#bin	chrom	chromStart	chromEnd	name	pubMedID	author	pubDate	journal	title	trait	initSample	replSample	region	genes	riskAllele	riskAlFreq	pValue	pValueDesc	orOrBeta	ci95	platform	cnv
592	chr1	1005805	1005806	rs3934834	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	1p36.33	NR	rs3934834-G	0.80	6E-7	(females + males)	0.11	[NR] kg increase	Illumina [318237]	N
593	chr1	1079197	1079198	rs11260603	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p36.33	NR	rs11260603-C	0.217058243435692	4E-7	(IGP7)	0.2608	[0.16-0.36] unit increase	Illumina [~ 2500000] (imputed)	N
594	chr1	1247493	1247494	rs12103	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.33	NR	rs12103-A	0.1834	1E-9	(EA)	1.1046834	[1.07-1.14]	Affymetrix, Illumina [~ 9000000] (imputed)	N
594	chr1	1247493	1247494	rs12103	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.33	NR	rs12103-A	0.1834	3E-11	(EA)	1.0906081	[1.06-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
594	chr1	1247493	1247494	rs12103	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.33	NR	rs12103-A	0.1834	6E-7	(EA)	1.082054	[1.05-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
594	chr1	1247493	1247494	rs12103	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1p36.33	TNFRSF18, TNFRSF4	rs12103-A	0.182	8E-13		1.099	[1.059-1.139]	Affymetrix, Illumina [1230000] (imputed)	N
598	chr1	1723030	1723031	rs9660180	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p36.33	GNB1	rs9660180-A	0.499	8E-7	(EA)	0.017	[0.01-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
598	chr1	1723030	1723031	rs9660180	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p36.33	GNB1	rs9660180-A	0.491	6E-7		0.016	[0.0099-0.0229] kg/m2 increase	Affymetrix, Illumina [2550021]	N
600	chr1	2069171	2069172	rs425277	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p36.33	PRKCZ	rs425277-T	0.28	2E-8		0.022	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
600	chr1	2069680	2069681	rs3753242	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	1p36.33	PRKCZ	rs3753242-?	0.06	1E-6	(risperidone)			Affymetrix [492900]	N
601	chr1	2205580	2205581	rs12045693	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p36.33	NR	rs12045693-C	0.573032700580098	3E-6	(IGP56)	0.1539	[0.089-0.219] unit decrease	Illumina [~ 2500000] (imputed)	N
603	chr1	2387100	2387101	rs4648845	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p36.32	NR	rs4648845-T	NR	2E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
603	chr1	2387100	2387101	rs4648845	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	1p36.32	PLCH2	rs4648845-T	0.527	9E-10		1.072	[1.049-1.097]	Affymetrix, Illumina [9005918] (imputed)	N
603	chr1	2392647	2392648	rs2477686	22197933	Hu Z	2011-12-25	Nat Genet	A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.	Non-obstructive azoospermia	981 Han Chinese ancestry cases, 1,657 Han Chinese ancestry controls	1,946 Han Chinese ancestry cases, 4,077 Han Chinese ancestry controls	1p36.32	MMEL1, PEX10	rs2477686-?	NR	6E-12		1.39	[1.26-1.52]	Affymetrix [587347]	N
603	chr1	2452978	2452979	rs12073504	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.32	PANK4	rs12073504-G	0.033	5E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
604	chr1	2501337	2501338	rs10797432	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	1p36.32	MMEL1, PLCH2, TNFRSF14	rs10797432-C	0.522	3E-12		1.078	[1.041-1.116]	Affymetrix, Illumina [1230000] (imputed)	N
604	chr1	2501515	2501516	rs10910092	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.32	NR	rs10910092-?	NR	1E-11	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
604	chr1	2502779	2502780	rs6667605	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.32	NR	rs6667605-G	0.51	3E-10	(EA)	1.0831845		Affymetrix, Illumina [~ 9000000] (imputed)	N
604	chr1	2502779	2502780	rs6667605	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.32	NR	rs6667605-G	0.51	1E-6	(EA)	1.0500121		Affymetrix, Illumina [~ 9000000] (imputed)	N
604	chr1	2513215	2513216	rs734999	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	1p36.32	MMEL1, PLCH2, C1orf93, TNFRSF14	rs734999-C	0.52	3E-9		1.05	[1.01-1.09]	Affymetrix, Illumina [~ 1100000] (imputed)	N
604	chr1	2526745	2526746	rs3748816	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	1p36.32	MMEL1, TNFRSF14	rs3748816-?	0.66	3E-9		1.12	[1.09-1.18]	Illumina [292387]	N
604	chr1	2553623	2553624	rs3890745	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	1p36.32	TNFRSF14	rs3890745-?		1E-6		1.18	[1.1-1.27]	Affymetrix, Illumina [1831729] (imputed)	N
604	chr1	2553623	2553624	rs3890745	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	1p36.32	TNFRSF14	rs3890745-T	0.68	4E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2716259] (imputed)	N
604	chr1	2553623	2553624	rs3890745	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	1p36.32	MMEL1, TNFRSF14	rs3890745-T	0.67	1E-7		1.12	[NR]	Affymetrix, Illumina [at least 315971] (imputed)	N
605	chr1	2709163	2709164	rs4648356	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1p36.32	MMEL1	rs4648356-C	NR	1E-14		1.14	[1.12-1.16]	Illumina [465434]	N
608	chr1	3083711	3083712	rs2651899	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	1p36.32	PRDM16	rs2651899-C	0.41	4E-14		1.09	[1.07-1.11]	Affymetrix, Illumina [~ 2300000] (imputed)	N
608	chr1	3083711	3083712	rs2651899	21666692	Chasman DI	2011-06-12	Nat Genet	Genome-wide association study reveals three susceptibility loci for common migraine in the general population.	Migraine	5,122 European ancestry cases, 18,108 European ancestry controls	3,831 European ancestry cases, 13,889 European ancestry controls	1p36.32	PRDM16	rs2651899-C	0.43	4E-9		1.11	[1.07-1.15]	Affymetrix, Illumina [2608509] (imputed)	N
608	chr1	3091586	3091587	rs61759167	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	1p36.32	PRDM16	rs61759167-T	0.231	4E-13		0.047	[0.034-0.059] unit increase	Illumina [7428049] (imputed)	N
609	chr1	3255538	3255539	rs2483280	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	QRS duration	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	1p36.32	PRDM16	rs2483280-A	0.26	2E-11		0.75	[NR] unit decrease	Affymetrix [2100000] (imputed)	N
610	chr1	3280252	3280253	rs6658356	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	1p36.32	PRDM16, ARHGEF16, MEFGF6	rs6658356-A	0.06	2E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
610	chr1	3300806	3300807	rs868688	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	1p36.32	PRDM16	rs868688-?	NR	7E-7	(AA)	1.89	[1.28-3.57]	Affymetrix, Illumina [NR] (imputed)	N
611	chr1	3413996	3413997	rs12725009	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	1p36.32	NR	rs12725009-A	0.015	2E-7		4.46	[2.54-7.94]	Illumina [7261187] (imputed)	N
612	chr1	3649561	3649562	rs9662633	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p36.32	TP73	rs9662633-A	0.05	6E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
612	chr1	3651030	3651031	rs12562437	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p36.32	TP73, CCDC27, KIAA0495, LRRC47	rs12562437-T	0.04	2E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
612	chr1	3651408	3651409	rs10910018	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p36.32	TP73, CCDC27, KIAA0495, LRRC47	rs10910018-A	0.04	2E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
612	chr1	3651408	3651409	rs10910018	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p36.32	TP73, CCDC27, KIAA0495, LRRC47	rs10910018-A	0.04	2E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
612	chr1	3669355	3669356	rs76597070	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.32	CCDC27	rs76597070-A	0.0050	3E-6	(Calorimeter activity )	0.03	[NR] counts/d increase	Illumina [899892]	N
613	chr1	3691527	3691528	rs1175550	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Cu levels)	2,603 European ancestry individuals	NA	1p36.32	CCDC27, LOC388588, KIAA0562, DFFB, LRRC47	rs1175550-A	NR	5E-10		0.198	[0.14-0.26] unit decrease	Illumina [> 2500000] (imputed)	N
616	chr1	4183005	4183006	rs10915437	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	1p36.32	AJAP1	rs10915437-?	0.64	3E-8		1.16	[1.1-1.22]	Affymetrix, Illumina [~ 2300000] (imputed)	N
616	chr1	4193550	4193551	rs12568266	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1p36.32	hCG_2036596, LOC644357	rs12568266-A	0.029	6E-10		5.02	[2.86-8.8]	Illumina [1556551]	N
617	chr1	4315203	4315204	rs966321	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Factor VII	886 European ancestry individuals	NA	1p36.32	intergenic	rs966321-?	0.47	8E-6				Affymetrix [70897]	N
618	chr1	4444538	4444539	rs239339	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.32	LOC644357	rs239339-A	0.095	3E-6	(Urinary free dopamine: creatinine)	0.03	[NR] unit increase	Illumina [899892]	N
619	chr1	4559900	4559901	rs4654438	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	1p36.32	AJAP1	rs4654438-T	0.4593	2E-6		1.6269	[NR] unit decrease	Illumina [1216189] (imputed)	N
620	chr1	4614821	4614822	rs241257	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	1p36.32	intergenic	rs241257-A		9E-6	(AA, factor score analysis)	0.17	[NR] unit increase	Affymetrix [up to 730090]	N
620	chr1	4620995	4620996	rs12120353	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	1p36.32	intergenic	rs12120353-A		3E-6	(AA, case-control analysis)	2.13	[NR]	Affymetrix [up to 730090]	N
620	chr1	4668669	4668670	rs3896439	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	1p36.32	AJAP1	rs3896439-?	NR	2E-8	(DMFS5max, DMFS5)			Illumina [518997]	N
622	chr1	4853687	4853688	rs932350	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	1p36.32	AJAP1, C1orf174	rs932350-C	0.67	3E-7	(DWRT-dr)	0.1122	[0.07-0.155] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
622	chr1	4853687	4853688	rs932350	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	1p36.32	AJAP1, C1orf174	rs932350-C	0.67	3E-6	(VPWL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
622	chr1	4853687	4853688	rs932350	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	1p36.32	AJAP1, C1orf174	rs932350-C	0.67	2E-6	(VPWL-dr)			Affymetrix, Illumina [NR] (imputed)	N
624	chr1	5170711	5170712	rs7513590	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	1p36.32	intergenic	rs7513590-?	0.10	5E-6	(height)	0.31	[0.17-0.45] mm decrease	Illumina [316730]	N
625	chr1	5354843	5354844	rs912988	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	1p36.32	intergenic	rs912988-T	0.3630374	6E-6	(% improvement - SSRI treated - 2 weeks)	0.1825	[0.1-0.26] unit increase	Affymetrix, Illumina [1200000] (imputed)	N
628	chr1	5661008	5661009	rs7528859	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	1p36.31	intergenic	rs7528859-A	0.4	5E-6		1.12	[1.07-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
628	chr1	5707815	5707816	rs4845812	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	1p36.31	AK125078	rs4845812-T		5E-6		0.2917	unit decrease	Illumina [5767231] (imputed)	N
630	chr1	5913620	5913621	rs548726	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	1p36.31	NPHP4	rs548726-?	NR	5E-7				Affymetrix, Illumina [~ 1300000]	N
631	chr1	6149121	6149122	rs2273042	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1p36.31	RNF207	rs2273042-A	0.11	7E-9		0.94	[0.63-1.25] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
632	chr1	6279369	6279370	rs846111	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1p36.31	RNF207	rs846111-C	0.283	7E-40		1.73	[1.48-1.98] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
632	chr1	6279369	6279370	rs846111	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	1p36.31	RNF207	rs846111-C	0.29	4E-16		1.49	[1.00-1.98] ms increase	Affymetrix, Illumina [2557000] (imputed)	N
632	chr1	6279369	6279370	rs846111	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	1p36.31	NPHP4, CHDS, ACOT7, PLEKHG5, KLH21, RNF207	rs846111-C	0.28	1E-16		1.75	[1.41-2.09] msec increase	Affymetrix, Illumina [up to 2543686] (imputed)	N
635	chr1	6577870	6577871	rs4243830	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p36.31	NOL9	rs4243830-C	0.11	8E-6	(EA, men)	0.03	[0.017-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
635	chr1	6631430	6631431	rs11587438	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	1p36.31	TAS1R1	rs11587438-T	0.83	4E-6	(basophil count)	0.075	[0.05-0.11] unit increase	Illumina [2178645] (imputed)	N
636	chr1	6737211	6737212	rs189918	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p36.31	NR	rs189918-C	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
639	chr1	7113111	7113112	rs11120822	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		1p36.31	CAMTA1	rs11120822-C	NR	1E-6		0.0931	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
640	chr1	7292228	7292229	rs7524258	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	1p36.23	CAMTA1	rs7524258-T	0.40	8E-6		1.16	[NR]	Illumina [7659573] (imputed)	N
642	chr1	7504140	7504141	rs75562159	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	1p36.23	CAMTA1	rs75562159-A	0.01	9E-6		2.7027025	[2.27-3.13]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
642	chr1	7521584	7521585	rs1616122	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	1p36.23	CAMTA1, VAMP3	rs1616122-T	0.506	5E-6	(Orange)	1.85	[1.41-2.42]	Affymetrix [~ 2500000] (imputed)	N
642	chr1	7528845	7528846	rs1149332	24770850	Cousminer DL	2014-04-25	Hum Mol Genet	Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.	Puberty onset	6,147 European ancestry girls, 3,769 European ancestry boys	Up to 1,376 European ancestry individuals	1p36.23	CAMTA1	rs1149332-T	0.26	5E-6		0.062	[0.035-0.089] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
642	chr1	7532289	7532290	rs1149336	24770850	Cousminer DL	2014-04-25	Hum Mol Genet	Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.	Puberty onset (breast development)	6,147 European ancestry girls	NA	1p36.23	CAMTA1	rs1149336-T	0.27	9E-7		0.09	[0.055-0.125] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
643	chr1	7721359	7721360	rs3011925	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p36.23	NR	rs3011925-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
645	chr1	7879062	7879063	rs2797685	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	1p36.23	VAMP3	rs2797685-A	0.19	7E-9		1.05	[1.01-1.10]	Affymetrix, Illumina [953241] (imputed)	N
645	chr1	7961205	7961206	rs227163	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p36.23	TNFRSF9	rs227163-C	0.42	3E-9	(East Asian)	1.11	[1.08-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
646	chr1	8021972	8021973	rs35675666	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1p36.23	TNFRSF9	rs35675666-G	0.838	1E-15		1.112	[1.07-1.156]	Affymetrix, Illumina [1230000] (imputed)	N
646	chr1	8021972	8021973	rs35675666	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	1p36.23	PARK7, TNFRSF9, ERFFI1, UTS2	rs35675666-G	0.83	5E-9		1.08	[1.02-1.15]	Affymetrix, Illumina [~ 1100000] (imputed)	N
646	chr1	8022196	8022197	rs3766606	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.23	NR	rs3766606-C	0.83	6E-14	(EA)	1.143554		Affymetrix, Illumina [~ 9000000] (imputed)	N
646	chr1	8022196	8022197	rs3766606	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.23	NR	rs3766606-A	0.83	5E-9	(EA)	1.1060587		Affymetrix, Illumina [~ 9000000] (imputed)	N
646	chr1	8042825	8042826	rs161802	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Ischemic stroke	12,389 cases, 62,004 controls	NA	1p36.23	PARK7	rs161802-T	NR	2E-7		1.1111	[1.08-1.16]	Affymetrix, Illumina [~ 2500000] (imputed)	N
646	chr1	8046671	8046672	rs12727642	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	1p36.23	PARK7, TNFRSF9	rs12727642-A	0.19	9E-8		1.14	[1.09-1.20]	Illumina [292387]	N
646	chr1	8095499	8095500	rs225132	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Ischemic stroke	12,389 cases, 62,004 controls	NA	1p36.23	ERRFI1	rs225132-G	NR	6E-8		1.1236	[1.08-1.16]	Affymetrix, Illumina [~ 2500000] (imputed)	N
647	chr1	8150637	8150638	rs72634258	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.23	NR	rs72634258-?	NR	1E-19	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
648	chr1	8264111	8264112	rs417065	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	1p36.23	SLC45A1, TNFRSF9	rs417065-A	0.258	8E-7		1.17	[1.1-1.24]	Illumina [up to 4778154] (imputed)	N
648	chr1	8275283	8275284	rs421490	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	1p36.23	SLC45A1	rs421490-A	0.882	3E-6		0.01	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
648	chr1	8338354	8338355	rs438895	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	1p36.23	intergenic	rs438895-G	NR	7E-6	(Education)	0.384	[0.22-0.55] unit increase	Illumina [628922]	N
648	chr1	8357220	8357221	rs11121152	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1p36.23	SLC45A1	rs11121152-?	NR	8E-6	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
648	chr1	8386729	8386730	rs9628987	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	1p36.23	SLC45A1	rs9628987-?,rs2289731-?,rs12711517-?,rs2305016-?,rs7535752-?	0.76	5E-6	(Haplotype - ?????)	1.23	[1.12-1.35]	Illumina [1006480]	N
648	chr1	8386729	8386730	rs9628987	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	1p36.23		rs9628987-?,rs7535752-?	NR	5E-6	(Haplotype-?????)			Illumina [1006480]	N
649	chr1	8390053	8390054	rs12142465	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p36.23	NR	rs12142465-C	NR	2E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
649	chr1	8390887	8390888	rs2289731	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	1p36.23	SLC45A1	rs9628987-?,rs2289731-?,rs12711517-?,rs2305016-?,rs7535752-?	0.76	5E-6	(Haplotype - ?????)	1.23	[1.12-1.35]	Illumina [1006480]	N
649	chr1	8394235	8394236	rs12711517	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	1p36.23	SLC45A1	rs9628987-?,rs2289731-?,rs12711517-?,rs2305016-?,rs7535752-?	0.76	5E-6	(Haplotype - ?????)	1.23	[1.12-1.35]	Illumina [1006480]	N
649	chr1	8395440	8395441	rs2305016	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	1p36.23	SLC45A1	rs9628987-?,rs2289731-?,rs12711517-?,rs2305016-?,rs7535752-?	0.76	5E-6	(Haplotype - ?????)	1.23	[1.12-1.35]	Illumina [1006480]	N
649	chr1	8395559	8395560	rs7535752	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	1p36.23	SLC45A1	rs9628987-?,rs2289731-?,rs12711517-?,rs2305016-?,rs7535752-?	0.76	5E-6	(Haplotype - ?????)	1.23	[1.12-1.35]	Illumina [1006480]	N
649	chr1	8395559	8395560	rs7535752	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	1p36.23		rs9628987-?,rs7535752-?	NR	5E-6	(Haplotype-?????)			Illumina [1006480]	N
649	chr1	8422675	8422676	rs2252865	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	1p36.23	SLC45A1, RERE, ENO1	rs2252865-T	NR	5E-7	(5 degree of freedom test)	1.03	[1.00-1.06]	NR [1252901] (imputed)	N
649	chr1	8422675	8422676	rs2252865	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	1p36.23	NR	rs2252865-?	NR	3E-6		1.08	[1.04-1.11]	Affymetrix, Illumina [1252901] (imputed)	N
649	chr1	8425899	8425900	rs3753275	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	1p36.23	intergenic	rs3753275-T	0.824	4E-7		0.03	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
649	chr1	8447721	8447722	rs2120461	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	1p36.23	RERE	rs2120461-T	0.67	3E-6	(FNBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
649	chr1	8487322	8487323	rs301797	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p36.23	NR	rs301797-A	NR	5E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
649	chr1	8489301	8489302	rs301799	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	1p36.23	NR	rs301799-C		3E-6		1.11	[1.06-1.17]	Affymetrix, Illumina [up to 3437411] (imputed)	N
649	chr1	8495944	8495945	rs301801	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	1p36.23	RERE	rs301801-C	0.33	5E-9		0.016	[0.010-0.022] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
649	chr1	8495944	8495945	rs301801	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	1p36.23	RERE	rs301801-C	0.33	3E-8	(EA)	0.016	[0.01-0.022] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
649	chr1	8495944	8495945	rs301801	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	1p36.23	RERE	rs301801-C	NR	2E-8		0.008	[0.0060-0.0100] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
650	chr1	8526141	8526142	rs4908760	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	1p36.23	RERE	rs4908760-G	0.37	7E-15		1.36	[1.26-1.48]	Illumina [520460]	N
651	chr1	8759553	8759554	rs12025126	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Vertical cup-disc ratio	7,360 European ancestry individuals	4,455 European ancestry individuals	1p36.23	RERE	rs12025126-C	0.29	6E-8		0.01	[0.007-0.015] mm2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
654	chr1	9151324	9151325	rs12080794	23726668	Hunter AM	2013-05-30	J Psychiatr Res	A genome-wide association study of a sustained pattern of antidepressant response.	Response to antidepressant treatment (citalopram)	869 European, Hispanic, African American, Asian, mixed race and other ancestry sustained response individuals, 247 European, Hispanic, African American, Asian, mixed race and other ancestry unsustained response individuals	394 European ancestry sustained response individuals, 191 European ancestry unsustained response individuals	1p36.23	NR	rs12080794-?	NR	9E-6		1.75	[1.33-2.27]	Affymetrix [430198]	N
654	chr1	9154621	9154622	rs11121321	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	1p36.23	NR	rs11121321-T	NR	5E-6		0.82	[0.47-1.17] unit increase	NR [5896100] (imputed)	N
655	chr1	9292281	9292282	rs9434723	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p36.22	H6PD	rs9434723-A	0.155	9E-13		0.029	[0.021-0.037] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
656	chr1	9317603	9317604	rs6662509	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	1p36.22	H6PD	rs6662509-T	0.15	3E-10		1.23	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
656	chr1	9408958	9408959	rs11121380	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	1p36.22	SPSB1	rs11121380-?	0.07	5E-8	(CSJC , EA, RF-)	11.11	[NR] unit increase	Illumina [534053]	N
656	chr1	9411468	9411469	rs11121382	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	1p36.22	SPSB1	rs11121382-C	NR	4E-6		0.099	[0.056-0.142] unit decrease	Affymetrix [736996]	N
656	chr1	9432389	9432390	rs9308447	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	1p36.22	SPSB1	rs9308447-?	NR	5E-7	(DMFS5mand)			Illumina [518997]	N
658	chr1	9673842	9673843	rs11121451	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	1p36.22	NR	rs11121451-?		3E-7	(PCB170)	1.55	[0.96-2.14] unit decrease	Illumina [8736858] (imputed)	N
658	chr1	9673842	9673843	rs11121451	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	1p36.22	NR	rs11121451-?		1E-7	(PCB180)	1.66	[1.05-2.27] unit decrease	Illumina [8736858] (imputed)	N
658	chr1	9674171	9674172	rs11121452	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	1p36.22	NR	rs11121452-?		7E-8	(PCB206)	1.74	[1.11-2.37] unit decrease	Illumina [8736858] (imputed)	N
659	chr1	9789149	9789150	rs14271	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1p36.22	PIK3CD, C1orf200, FLJ16126	rs14271-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
660	chr1	9879348	9879349	rs114190122	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1p36.22	intergenic	rs114190122-G	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
663	chr1	10286175	10286176	rs17396340	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	1p36.22	KIF1B	rs17396340-A	NR	3E-8		0.008	[0.0041-0.0119] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
663	chr1	10353111	10353112	rs10492972	18997785	Aulchenko YS	2008-11-09	Nat Genet	Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.	Multiple sclerosis	45 European ancestry cases,195 European ancestry controls	1,316 European ancestry cases, 1,423 European ancestry controls, 1,318 cases and 1,507 controls from 756 families	1p36.22	KIF1B	rs10492972-C	0.27	3E-10		1.34	[1.23-1.48]	Affymetrix [~ 250000]	N
664	chr1	10385470	10385471	rs17401966	20676096	Zhang H	2010-08-01	Nat Genet	Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers.	Hepatocellular carcinoma	348 Chinese ancestry cases, 359 Chinese ancestry controls	2,121 Chinese ancestry cases, 1,748 Chinese ancestry controls	1p36.22	UBE4B, KIF1B, PGD	rs17401966-A	0.72	2E-18		1.64	[1.49-1.82]	Affymetrix [294566]	N
665	chr1	10556096	10556097	rs636291	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	1p36.22	PEX14	rs636291-A	0.16	2E-8	(EA, early-onset)	1.18	[1.12-1.24]	Affymetrix, Illumina [up to 16852405] (imputed)	N
665	chr1	10566214	10566215	rs616488	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	1p36.22	PEX14	rs616488-A	0.665	1E-8		1.1	[1.06-1.14]	Illumina [NR]	N
665	chr1	10566214	10566215	rs616488	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	1p36.22	PEX14	rs616488-A	0.67	2E-10		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
665	chr1	10581657	10581658	rs2056417	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	1p36.22	PEX14	rs2056417-A	0.3027	4E-7		0.0658	[0.041-0.091] unit decrease	Illumina [2400000] (imputed)	N
666	chr1	10638603	10638604	rs12741973	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (rim area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	1p36.22	PEX14	rs12741973-C	NR	7E-6		0.167	[0.087-0.247] unit decrease	Illumina [~ 2740000] (imputed)	N
666	chr1	10694906	10694907	rs61776290	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	1p36.22	NR	rs61776290-T	0.11	2E-7		1.48	[1.32-1.64]	Illumina [4058415] (imputed)	N
667	chr1	10750431	10750432	rs516243	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	1p36.22	intergenic	rs516243-A	0.49	9E-6		1.11	[1.06-1.17]	Affymetrix, Illumina [~ 2300000] (imputed)	N
667	chr1	10796865	10796866	rs880315	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	1p36.22	CASZ1	rs880315-C	0.63	6E-10		0.97	[0.66-1.28] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
667	chr1	10796865	10796866	rs880315	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	1p36.22	CASZ1	rs880315-C	0.63	2E-9				Affymetrix, Illumina [2485448] (imputed)	N
667	chr1	10796865	10796866	rs880315	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	1p36.22	CASZ1	rs880315-C	0.63	8E-8		0.46	[0.28-0.64] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
667	chr1	10796865	10796866	rs880315	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	1p36.22	CASZ1	rs880315-C	0.65	7E-7	(Systolic)	0.74	[0.45-1.03] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
667	chr1	10796865	10796866	rs880315	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	1p36.22	CASZ1	rs880315-C	0.65	3E-10	(Diastolic)	0.56	[0.38-0.74] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
667	chr1	10799576	10799577	rs12046278	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Systolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	1p36.22	CASZ1	rs12046278-T	0.64	5E-6		0.53	[0.29-0.77] mm Hg decrease	Affymetrix, Illumina [2533153] (imputed)	N
669	chr1	11033081	11033082	rs12565727	22693459	Li R	2012-05-31	PLoS Genet	Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.	Male-pattern baldness	3,891 European ancestry cases, 8,915 European ancestry controls	NA	1p36.22	TARDBP	rs12565727-A	0.789	9E-11		1.33	[1.22-1.45]	Affymetrix, Illumina [2391230] (imputed)	N
669	chr1	11046854	11046855	rs9430161	22327514	Postel-Vinay S	2012-02-12	Nat Genet	Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.	Ewing sarcoma	Up to 427 European ancestry cases, up to 4,352 European ancestry controls	661 European ancestry cases, 1,299 European ancestry controls	1p36.22	TARDBP	rs9430161-G	0.79	1E-20		2.2	[1.77-2.72]	NR [286966]	N
670	chr1	11171225	11171226	rs17036350	21665993	Han S	2011-06-10	Hum Mol Genet	Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.	Corneal curvature	2,008 Chinese ancestry inidividuals, 2,281 Malay ancestry individuals	2,142 Asian Indian ancestry individuals, 929 Chinese ancestry children	1p36.22	FRAP1	rs17036350-T	0.20	4E-13		0.178	[0.11-0.25] unit increase	Illumina [462291]	N
671	chr1	11280993	11280994	rs74225573	24963161	Chen P	2014-06-24	Hum Mol Genet	CMPK1 and RBP3 are associated with corneal curvature in Asian populations.	Corneal curvature	3,178 Chinese ancestry individuals, 2,138 Malay ancestry individuals, 2,124 Asian Indian ancestry individuals	2,473 Chinese ancestry individuals, 2,747 Japanese ancestry individuals	1p36.22	MTOR	rs74225573-C	0.18	6E-18		0.16	[0.12-0.20] unit increase	Illumina [~ 7000000] (imputed)	N
671	chr1	11284335	11284336	rs10779751	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p36.22	MTOR	rs10779751-A	0.29	2E-6		0.016	[0.0092-0.0222] kg/m2 increase	Affymetrix, Illumina [2550021]	N
671	chr1	11284335	11284336	rs10779751	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p36.22	MTOR	rs10779751-A	0.277	9E-6	(EA)	0.015	[0.0084-0.0218] kg/m2 increase	Affymetrix, Illumina [2550021]	N
674	chr1	11736599	11736600	rs2336030	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p36.22	MAD2L2	rs2336030-C	0.65	1E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
674	chr1	11788563	11788564	rs4846033	18347602	Sullivan PF	2008-03-18	Mol Psychiatry	Genomewide association for schizophrenia in the CATIE study: results of stage 1.	Schizophrenia	417 European ancestry cases, 411 European ancestry controls, 217 African American cases, 219 African American controls, 104 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry cases, 103 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry controls	NA	1p36.22	intergenic	rs4846033-?	0.01	4E-6		2.87	[NR]	Affymetrix [492900]	N
675	chr1	11838645	11838646	rs12134663	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	1p36.22	MTHFR	rs12134663-A	0.8	3E-21		0.101	[0.079-0.123] unit decrease	Affymetrix, Illumina [2090256] (imputed)	N
675	chr1	11852515	11852516	rs17375901	19597492	Benjamin EJ	2009-07-13	Nat Genet	Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.	Atrial fibrillation	3,413 cases, 37,105 referents	2,145 cases, 4,073 controls	1p36.22	NPPA, MTHFR	rs17375901-T	0.053	6E-7		1.26		Affymetrix, Illumina [~ 2500000] (imputed)	N
675	chr1	11856377	11856378	rs1801133	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	1p36.22	MTHFR	rs1801133-A	0.34	4E-104		0.1583	[0.14-0.17] unit increase	Affymetrix, Illumina [2090256] (imputed)	N
675	chr1	11856377	11856378	rs1801133	20031578	Pare G	2009-04-01	Circ Cardiovasc Genet	Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.	Homocysteine levels	13,974 European ancestry females	840 European ancestry females	1p36.22	MTHFR	rs1801133-A	0.33	8E-35	(WGHS)	0.05	[NR] unit increase	Illumina [336469]	N
675	chr1	11862777	11862778	rs17367504	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	1p36.22	NPPB, MTHFR	rs17367504-G	0.17	2E-16	(Mean Arterial Pressure)	0.534	[0.40-0.66] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
675	chr1	11862777	11862778	rs17367504	19430483	Newton-Cheh C	2009-05-10	Nat Genet	Genome-wide association study identifies eight loci associated with blood pressure.	Systolic blood pressure	34,433 European ancestry individuals	Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals	1p36.22	NPPA, CLCN6, NPPB, AGTRAP, MTHFR	rs17367504-G	0.14	2E-13		0.85	[0.63-1.07] mm Hg decrease	Affymetrix, Illumina [2497993] (imputed)	N
675	chr1	11899032	11899033	rs1023252	21273288	Del Greco M F	2011-01-27	Hum Mol Genet	Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.	Natriuretic peptide levels	1,325 European ancestry individuals	1,746 European ancestry individuals	1p36.22	CLCN6	rs1023252-T	0.26	4E-16		0.2	[0.16-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
675	chr1	11919270	11919271	rs198389	25561047	Musani SK	2015-01-05	Circ Cardiovasc Genet	Genome-Wide Association Analysis of Plasma B-Type Natriuretic Peptide in African Americans: The Jackson Heart Study.	B-type natriuretic peptide	2,790 Black individuals	NA	1p36.22	NPPB	rs198389-G	0.4	1E-9		0.18	[0.12-0.24] unit increase	Affymetrix [2500000] (imputed)	N
676	chr1	11958722	11958723	rs12085006	19744961	Hazra A	2009-09-10	Hum Mol Genet	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	Folate pathway vitamin levels	3,305 European ancestry females, 1,458 European ancestry males	NA	1p36.22	MTHFR	rs12085006-?	0.43	6E-10	(Plasma homocysteine)	0.04	[0.020-0.060] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
676	chr1	12046062	12046063	rs2336384	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	1p36.22	MFN2	rs2336384-G	NR	1E-8		2.172	[1.42-2.92] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
677	chr1	12068940	12068941	rs6686734	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1p36.22	MFN2	rs6686734-?	NR	1E-6	(Atopic dermatitis)			Affymetrix, Illumina [~ 5200000]	N
678	chr1	12266590	12266591	rs5746061	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	28,610 European ancestry individuals	13,959 European ancestry individuals	1p36.22	TNFRSF1B	rs5746061-G	0.23	9E-6	(Combined gender)	0.011	[0.0071-0.0149] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
679	chr1	12373747	12373748	rs6685273	25896417	Nakada TA	2015-04-17	J Innate Immun	VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.	Cytokine-stimulated IL-6 production	60 European ancestry lymphoblastoid cell lines	NA	1p36.22	VPS13D	rs6685273-T	0.068	4E-7				Illumina [2300000]	N
679	chr1	12373747	12373748	rs6685273	25896417	Nakada TA	2015-04-17	J Innate Immun	VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.	Cytokine and corticosteroid-stimulated IL-6 production	60 European ancestry lymphoblastoid cell lines	NA	1p36.22	VPS13D	rs6685273-T	0.068	4E-7				Illumina [2300000]	N
681	chr1	12614847	12614848	rs3924048	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	1p36.21	DHRS3	rs3924048-G	0.4	2E-8	(EA)	0.016	[0.010-0.022] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
681	chr1	12614847	12614848	rs3924048	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	1p36.21	DHRS3	rs3924048-G	0.4	1E-10		0.016	[0.010-0.022] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
682	chr1	12741239	12741240	rs2489260	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.21	AADACL4	rs2489260-A	0.145	8E-6	(Sitting height )	0.04	[NR] cm increase	Illumina [899892]	N
691	chr1	13906526	13906527	rs2885135	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	1p36.21	NR	rs2885135-?		9E-6				Affymetrix, Illumina [1348798]	N
697	chr1	14792534	14792535	rs2480054	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	1p36.21	NR	rs2480054-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
702	chr1	15339959	15339960	rs6429703	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)	150 Japanese ancestry cases, 166 Japanese ancestry controls	NA	1p36.21	RP1-21O18.1	rs6429703-T	0.078	8E-6	(Allelic model)	2.942	[1.802-4.804]	Illumina [733202]	N
702	chr1	15347639	15347640	rs6667220	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	1p36.21	RP1-21O18.1	rs6667220-G	0.26	8E-6	(IL6)			Illumina [588352]	N
703	chr1	15548635	15548636	rs10737909	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	1p36.21	intergenic	rs10737909-?	0.54	2E-7		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
705	chr1	15792425	15792426	rs2901964	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	1p36.21	ELA2A	rs2901964-?	0.37	5E-6		5.26	[NR]	Affymetrix [512497]	N
707	chr1	16071009	16071010	rs59905655	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.21	TMEM82	rs59905655-A	0.043	2E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
707	chr1	16080170	16080171	rs12725198	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	1p36.21	FBLIM1	rs12725198-A	NR	3E-6	(Dichotomous variable)	1.85	[1.43-2.39]	Affymetrix, Illumina [~ 2500000] (imputed)	N
709	chr1	16299311	16299312	rs10927875	21459883	Villard E	2011-04-01	Eur Heart J	A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.	Dilated cardiomyopathy	1,179 European ancestry cases, 1,108 European ancestry controls	1,165 European ancestry cases, 1,302 European ancestry controls	1p36.13	ZBTB17	rs10927875-?	NR	1E-9		1.32	[1.19-1.43]	Illumina [517382]	N
710	chr1	16393356	16393357	rs9442235	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	1p36.13	FAM131C	rs9442235-?	0.4154	6E-6	(PC1)			Illumina [475971]	N
710	chr1	16505319	16505320	rs1497406	22010049	Middelberg RP	2011-11-01	Hum Mol Genet	Loci affecting gamma-glutamyl transferase in adults and adolescents show age &#x000d7; SNP interaction and cardiometabolic disease associations.	Gamma gluatamyl transferase levels	12,526 European ancestry individuals	NA	1p36.13	intergenic	rs1497406-T	0.41	4E-8		0.078	[0.051-0.105] unit decrease	Illumina [2380486] (imputed)	N
710	chr1	16505319	16505320	rs1497406	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	1p36.13	EPHA2, RSG1	rs1497406-G	0.56	3E-19		3.8	[2.70-4.80] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
716	chr1	17216330	17216331	rs6586513	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	Allergic rhinitis	3,933 European ancestry cases, 8,965 European ancestry controls	NA	1p36.13	CROCC	rs6586513-C	0.29	4E-6		1.24	[1.13-1.36]	Affymetrix, Illumina [2217510] (imputed)	N
717	chr1	17306674	17306675	rs2284746	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	1p36.13	MFAP2	rs2284746-C	0.72	2E-25		0.06	[0.046-0.074] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
717	chr1	17306674	17306675	rs2284746	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p36.13	MFAP2	rs2284746-C	0.475	1E-40		0.04	[0.034-0.046] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
717	chr1	17306674	17306675	rs2284746	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	1p36.13	MFAP2	rs2284746-G	0.52	5E-15		1.17	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
717	chr1	17306674	17306675	rs2284746	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	1p36.13	MFAP2	rs2284746-?	NR	2E-11	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
717	chr1	17306674	17306675	rs2284746	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	1p36.13	MFAP2	rs2284746-G	0.52	8E-16	(FEV1/FVC)	0.04	[0.030-0.050] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
717	chr1	17306674	17306675	rs2284746	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p36.13	MFAP2	rs2284746-C	0.48	4E-29		0.04	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
717	chr1	17331675	17331676	rs3738814	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	1p36.13	ATP13A2	rs3738814-A	0.3	1E-24		0.061	[0.047-0.075] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
717	chr1	17331675	17331676	rs3738814	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	1p36.13	ATP13A2, SDHB	rs3738814-A	0.35	2E-7		0.06	[0.04-0.08] cm increase	Illumina [420885]	N
719	chr1	17591678	17591679	rs3003429	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	1p36.13	PADI3	rs3003429-T	NR	4E-7	(FEV1, Pack-years)			NR [~ 2500000] (imputed)	N
719	chr1	17613808	17613809	rs12568771	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	1p36.13	PADI4, PADI3, PADI1	rs12568771-G	NR	2E-6		1.12	[NR]	Illumina [> 1000000] (imputed)	N
719	chr1	17672729	17672730	rs2301888	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p36.13	PADI4	rs2301888-G	0.65	6E-9	(EA)	1.11	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
719	chr1	17672729	17672730	rs2301888	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p36.13	PADI4	rs2301888-G	0.58	1E-18		1.13	[1.10-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
719	chr1	17672729	17672730	rs2301888	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p36.13	PADI4	rs2301888-G	0.41	8E-13	(East Asian)	1.19	[1.14-1.25]	Affymetrix, Illumina [up to 9739303] (imputed)	N
719	chr1	17674536	17674537	rs2240335	21505073	Terao C	2011-04-19	Hum Mol Genet	The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.	Rheumatoid arthritis	1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls	4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls	1p36.13	PADI4	rs2240335-?	NR	2E-8				Illumina [241523]	N
719	chr1	17674536	17674537	rs2240335	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	1p36.13	PADI4	rs2240335-?		2E-8		1.5	[NR]	Illumina [441398]	N
720	chr1	17722362	17722363	rs7538876	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	1p36.13	RCC2, PADI6	rs7538876-A	0.356	8E-17		1.25	[NR]	Illumina [24988228] (imputed)	N
720	chr1	17722362	17722363	rs7538876	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	1p36.13	RCC2, PADI6	rs7538876-A		7E-14		1.25	[1.18-1.32]	Illumina [38500000] (imputed)	N
720	chr1	17722362	17722363	rs7538876	18849993	Stacey SN	2008-10-12	Nat Genet	Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.	Basal cell carcinoma	930 European ancestry cases, 33,117 European ancestry controls	1,216 European ancestry cases, 2,844 European ancestry controls	1p36.13	RCC2, ARHGEF10L, PADI4, PADI6	rs7538876-A	0.35	4E-12		1.28	[1.19-1.37]	Illumina [304083]	N
721	chr1	17834741	17834742	rs2254135	22095909	Lange CM	2011-11-16	Hepatology	Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	707 European ancestry cases	NA	1p36.13	ARHGEF10L	rs2254135-T	NR	3E-6		0.269	[0.16-0.38] ug/L increase	NR [NR]	N
721	chr1	17919816	17919817	rs6693036	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.13	ARHGEF10L	rs6693036-G	0.048	3E-6	(TG )	0.04	[NR] mg/dL increase	Illumina [899892]	N
724	chr1	18244706	18244707	rs6686929	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.13	ACTL8	rs6686929-G	0.486	3E-6	(Ghrelin )	0.03	[NR] pg/100 uL increase	Illumina [899892]	N
724	chr1	18294486	18294487	rs16861326	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	1p36.13	IGSF21	rs16861326-?	0.02	2E-6		17.85	[NR]	Affymetrix [512497]	N
728	chr1	18795254	18795255	rs3007729	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	1p36.13	KLHDC7A, IGSF21	rs3007729-T	0.65	5E-6		1.35	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
729	chr1	18903901	18903902	rs2816062	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	1p36.13	KLHDC7A, PAX7	rs2816062-G	0.42	9E-6	(men)	0.091	[0.05-0.132] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
729	chr1	18979873	18979874	rs742071	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	1p36.13	PAX7	rs742071-T	NR	7E-9	(Meta-All, NSCL/P)	1.316	[1.126-1.537]	NR [497084]	N
729	chr1	18990250	18990251	rs2236835	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	1p36.13	PAX7	rs2236835-A	0.04	8E-6		0.128	[0.071-0.185] unit decrease	Affymetrix, Illumina [557887] (imputed)	N
730	chr1	19032271	19032272	rs2236824	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	1p36.13	PAX7	rs2236824-?	NR	2E-6	(SF10)			Affymetrix [5476100] (imputed)	N
730	chr1	19108548	19108549	rs6669119	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	1p36.13	PAX7	rs6669119-T	NR	1E-6	(All)	0.14	[0.018-0.262] unit decrease	Illumina [6900000] (imputed)	N
731	chr1	19139516	19139517	rs12063142	20070850	Edwards TL	2010-01-13	Ann Hum Genet	Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.	Parkinson's disease	1,752 European ancestry cases, 1,745 European ancestry controls	NA	1p36.13	TAS1R2	rs12063142-?	NR	5E-7				Illumina [495715] (imputed)	N
731	chr1	19201918	19201919	rs6695033	25649651	Wang X	2015-02-03	J Alzheimers Dis	Genetic Determinants of Survival in Patients with Alzheimer's Disease.	Alzheimer's disease (survival time)	983 cases	NA	1p36.13	ALDH4A1	rs6695033-?		3E-6		2.71	[NR]	Illumina [803323]	N
731	chr1	19206333	19206334	rs28441017	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	1p36.13	ALDH4A1, TAS1R2	rs28441017-G	0.827	9E-6		0.086	[0.049-0.123] unit decrease	Illumina [6150213] (imputed)	N
731	chr1	19234133	19234134	rs28530674	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	1p36.13	NR	rs28530674-?	0.04	3E-7		1.826	[NR]	Illumina [1468075]	N
732	chr1	19321494	19321495	rs16862426	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	1p36.13	intergenic	rs16862426-C	0.03	9E-8			[NR]	Affymetrix [398699]	N
732	chr1	19332075	19332076	rs7523455	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	1p36.13	intergenic	rs7523455-A	0.19	2E-7			[NR]	Affymetrix [398699]	N
732	chr1	19349280	19349281	rs28829049	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p36.13	NR	rs28829049-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
732	chr1	19386584	19386585	rs12123383	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	1p36.13	intergenic	rs12123383-?	NR	4E-6	(SF1)			Affymetrix [5476100] (imputed)	N
734	chr1	19568971	19568972	rs710865	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	1p36.13	KIAA0090, MRT04, AKR7L	rs710865-?	0.38	1E-7				Illumina [448293]	N
735	chr1	19718823	19718824	rs7667	22482804	Ellinghaus D	2012-04-06	Am J Hum Genet	Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.	Crohn's disease and psoriasis	2,529 European ancestry psoriasis cases, 2,142 European ancestry Crohn's disease cases, 10,460 European ancestry controls	Up to 3,187 European ancestry psoriasis cases, 4,073 European ancestry Crohn's disease cases, 10,100 European ancestry controls	1p36.13	CAPZB	rs7667-?	NR	8E-6	(opposite-effect analysis)	1.11	[NR]	Affymetrix, Illumina, Perlegen [1116213] (imputed)	N
735	chr1	19761428	19761429	rs12136530	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	1p36.13	CAPZB	rs12136530-A	0.793	3E-6		0.16	[0.091-0.229] unit increase	Illumina [6391392] (imputed)	N
735	chr1	19765517	19765518	rs12045440	21565293	Teumer A	2011-05-13	Am J Hum Genet	Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.	Thyroid volume	3,620 European ancestry individuals	1,290 European ancestry individuals	1p36.13	CAPZB	rs12045440-T	0.664	3E-14	(thyroid volume)	0.067	[0.05-0.09] unit increase	Affymetrix [2748910] (imputed)	N
735	chr1	19765517	19765518	rs12045440	21565293	Teumer A	2011-05-13	Am J Hum Genet	Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.	Thyroid volume	3,620 European ancestry individuals	1,290 European ancestry individuals	1p36.13	CAPZB	rs12045440-T	0.664	2E-11	(goiter)	1.38	[1.26-1.51]	Affymetrix [2748910] (imputed)	N
736	chr1	19827779	19827780	rs6683419	24852370	Zhan M	2014-05-22	Hum Mol Genet	Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.	Serum thyroid-stimulating hormone levels	1,346 Han Chinese ancestry individuals	3,235 She Chinese ancestry individuals	1p36.13	MINOS1, NBL1, CAPZB	rs6683419-G	0.265	3E-7		0.027	[NR] unit increase	Illumina [8503852] (imputed)	N
736	chr1	19839114	19839115	rs12138950	21565293	Teumer A	2011-05-13	Am J Hum Genet	Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.	Thyroid volume	3,620 European ancestry individuals	1,290 European ancestry individuals	1p36.13	CAPZB	rs12138950-A	0.847	3E-18	(thyroid volume)	0.102	[0.08-0.12] unit decrease	Affymetrix [2748910] (imputed)	N
736	chr1	19841173	19841174	rs10799824	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	1p36.13	CAPZB	rs10799824-A	0.161	4E-21	(TSH)	0.113	[0.089-0.137] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr1	19841173	19841174	rs10799824	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	1p36.13	CAPZB	rs10799824-A	0.161	3E-14	(TSH - Females)	0.123	[0.092-0.154] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr1	19841173	19841174	rs10799824	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	1p36.13	CAPZB	rs10799824-A	0.161	1E-8	(TSH - Males)	0.099	[0.066-0.132] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr1	19843353	19843354	rs10917468	21565293	Teumer A	2011-05-13	Am J Hum Genet	Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.	Thyroid volume	3,620 European ancestry individuals	1,290 European ancestry individuals	1p36.13	CAPZB	rs10917468-C	0.217	1E-14	(goiter)	1.52	[1.37-1.69]	Affymetrix [2748910] (imputed)	N
736	chr1	19861105	19861106	rs10917477	22494929	Rawal R	2012-04-16	Hum Mol Genet	Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.	Thyroid function	3,736 European ancestry individuals	3,727 European ancestry individuals	1p36.13	CAPZB	rs10917477-A	0.511	2E-8		0.058	[0.038-0.078] unit decrease	Affymetrix, Illumina [2524918] (imputed)	N
738	chr1	20140035	20140036	rs1317209	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	1p36.13	RNF186, OTUD3, PLA2G2E	rs1317209-T	NR	2E-10		1.34	[NR]	Illumina [266047]	N
738	chr1	20142865	20142866	rs3806308	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.13	NR	rs3806308-G	0.62	6E-39	(EA)	1.1850245		Affymetrix, Illumina [~ 9000000] (imputed)	N
738	chr1	20142865	20142866	rs3806308	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	1p36.13	RNF186, OTUD3, PLA2G2E	rs3806308-G	NR	3E-8		1.15		Illumina [266047]	N
738	chr1	20142865	20142866	rs3806308	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	1p36.13	RNF186	rs3806308-?	0.63	7E-9		1.28		Illumina [280748]	N
738	chr1	20171859	20171860	rs6426833	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.13	NR	rs6426833-A	0.54	3E-76	(EA)	1.2616084		Affymetrix, Illumina [~ 9000000] (imputed)	N
738	chr1	20171859	20171860	rs6426833	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.13	NR	rs6426833-?	NR	1E-55	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
738	chr1	20171859	20171860	rs6426833	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.13	NR	rs6426833-A	0.54	3E-36	(EA)	1.1322339		Affymetrix, Illumina [~ 9000000] (imputed)	N
738	chr1	20171859	20171860	rs6426833	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	1p36.13	intergenic	rs6426833-A	0.542	2E-68		1.265	[1.221-1.31]	Affymetrix, Illumina [1230000] (imputed)	N
738	chr1	20171859	20171860	rs6426833	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	1p36.13	intergenic	rs6426833-A	0.54	4E-35		1.3	[1.25-1.35]	Affymetrix, Illumina [~ 1100000] (imputed)	N
738	chr1	20171859	20171860	rs6426833	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	1p36.13	RNF186, OTUD3, PLA2G2E	rs6426833-A	NR	2E-21		1.3	[NR]	Illumina [266047]	N
738	chr1	20171859	20171860	rs6426833	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	1p36.13	OTUD3, PLA2G2E	rs6426833-?	NR	2E-11				Affymetrix [NR]	N
738	chr1	20171859	20171860	rs6426833	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	1p36.13	OTUD3, PLA2G2E	rs6426833-G	0.54	5E-13		1.37		Illumina [280748]	N
739	chr1	20200989	20200990	rs4654903	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	1p36.13	RNF186, OTUD3, PLA2G2E	rs4654903-?	0.75	7E-9		1.56	[1.35-1.82]	Illumina [581060]	N
739	chr1	20227722	20227723	rs4654925	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	1p36.13	OTUD3	rs4654925-G	0.52	9E-22		1.41	[1.30-1.54]	Affymetrix [1897764] (imputed)	N
741	chr1	20455219	20455220	rs12722987	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.12	PLA2G2D	rs12722987-A	0.178	7E-6	(BMI z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
745	chr1	21031041	21031042	rs2296225	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	1p36.12	NR	rs2296225-?	0.08	1E-7		1.626	[NR]	Illumina [1468075]	N
748	chr1	21410230	21410231	rs4654899	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	1p36.12	EIF4G3	rs4654899-A	0.33	8E-9	(Right superior frontal gyrus)	969.5	[NR] unit decrease	Affymetrix [517946]	N
748	chr1	21410230	21410231	rs4654899	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	1p36.12	EIF4G3	rs4654899-A	0.33	2E-6	(Left superior frontal gyrus)	787.0	[NR] unit decrease	Affymetrix [517946]	N
749	chr1	21583310	21583311	rs212524	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p36.12	ECE1	rs212524-T	0.404	5E-12		0.021	[0.015-0.027] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
750	chr1	21654734	21654735	rs213032	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.12	ECE1	rs213032-G	0.281	6E-6	(Sleep duration )	0.03	[NR] min/d increase	Illumina [899892]	N
751	chr1	21766452	21766453	rs1976403	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	1p36.12	ALPL, NBPF3	rs1976403-C	0.40	2E-50		3.6	[3.0-4.2] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
751	chr1	21771996	21771997	rs12118362	25147783	Keene KL	2014-08-06	Front Public Health	Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.	Vitamin B levels in ischemic stroke	1,725 European ancestry cases, 258 African ancestry cases, 117 cases	NA	1p36.12	NBPF3	rs12118362-A	0.213	2E-7	(Vitamin B6)	0.172	[NR] unit increase	Illumina [737081]	N
751	chr1	21786067	21786068	rs4654748	19744961	Hazra A	2009-09-10	Hum Mol Genet	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	Folate pathway vitamin levels	3,305 European ancestry females, 1,458 European ancestry males	NA	1p36.12	NBPF3	rs4654748-?	0.48	4E-11	(Plasma PLP)	0.1	[0.080-0.120] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
751	chr1	21786067	21786068	rs4654748	19303062	Tanaka T	2009-03-18	Am J Hum Genet	Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.	Folate pathway vitamin levels	2,934 European ancestry individuals	686 European ancestry individuals	1p36.12	ALPL	rs4654748-C	0.50	8E-18	(vitamin B6)	1.45	[0.90-2.00] ng/ml decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
751	chr1	21820989	21820990	rs10799701	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	1p36.12	ALPL	rs10799701-A	0.435	3E-20	(SM-14 + 6 other traits)	0.131	[NR] unit decrease	Affymetrix, Illumina [534665]	N
751	chr1	21821756	21821757	rs1780324	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	1p36.12	ALPL, RAP1GAP, NBPF3	rs1780324-T	0.43	7E-15	(ALP)	0.03	[0.023-0.039] U/L increase	Affymetrix, Illumina [up to 496032]	N
751	chr1	21823291	21823292	rs1697421	25147783	Keene KL	2014-08-06	Front Public Health	Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.	Vitamin B levels in ischemic stroke	1,725 European ancestry cases, 258 African ancestry cases, 117 cases	NA	1p36.12	ALPL	rs1697421-T	0.471	7E-10	(Vitamin B6)	0.173	[NR] unit increase	Illumina [737081]	N
751	chr1	21823291	21823292	rs1697421	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	1p36.12	ALPL	rs1697421-T	0.52	3E-14	(ADSGEGDFXAEGGGVR/ADpSGEGDFXAEGGGVR)	0.042	[0.03-0.054] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
751	chr1	21823291	21823292	rs1697421	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	1p36.12	ALPL	rs1697421-T	0.52	2E-20	(DSGEGDFXAEGGGVR/ADpSGEGDFXAEGGGVR)	0.056	[0.044-0.068] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
751	chr1	21823291	21823292	rs1697421	20558539	Kestenbaum B	2010-06-17	J Am Soc Nephrol	Common genetic variants associate with serum phosphorus concentration.	Phosphorus levels	16,264 European ancestry individuals	5,444 individuals	1p36.12	ALPL, NBPF3	rs1697421-A	0.49	1E-27		0.05	[NR] mg/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
751	chr1	21837754	21837755	rs16825455	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)	428 Japanese ancestry cases, 743 Japanese ancestry controls	NA	1p36.12	ALPL	rs16825455-T	0.605	9E-6	(Dominant model)	1.425	[1.193-1.702]	Illumina [733202]	N
751	chr1	21875915	21875916	rs885814	22569225	Krintel SB	2012-05-06	Pharmacogenet Genomics	Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis.	Response to TNF-alpha inhibitors in rheumatoid arthritis	196 European ancestry cases	NA	1p36.12	ALPL	rs885814-?	NR	6E-6	(Change in DAS28)			Illumina [486450]	N
752	chr1	21890385	21890386	rs1256335	19744961	Hazra A	2009-09-10	Hum Mol Genet	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	Folate pathway vitamin levels	3,305 European ancestry females, 1,458 European ancestry males	NA	1p36.12	ALPL	rs1256335-?	0.21	1E-15	(Plasma PLP)	0.14	[0.10-0.18] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
752	chr1	21896766	21896767	rs1256328	26272126	Oddsson A	2015-08-14	Nat Commun	Common and rare variants associated with kidney stones and biochemical traits.	Kidney stones	5,149 European ancestry cases, 279,870 European ancestry controls (includes non-array genotyped, whole-genome imputed individuals)	NA	1p36.12	ALPL	rs1256328-T	0.1779	6E-10		1.21	[NR]	Illumina [28300000] (imputed)	N
752	chr1	21904528	21904529	rs2242420	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	1p36.12	ALPL	rs2242420-T	0.18	5E-13	(ALP)	0.163	[0.12-0.21] unit increase	Illumina [561583]	N
755	chr1	22373623	22373624	rs2501276	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune response to smallpox vaccine (IL-6)	Up to 512 European ancestry individuals, 199 African American individuals	NA	1p36.12	CDC42	rs2501276-A		2E-7	(AA)			Illumina [NR]	N
756	chr1	22422720	22422721	rs10917151	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?,rs16826658-?,rs7521902-?	0.134	8E-7	(Haplotype - ATTGA)	1.25	[NR]	Illumina [580699]	N
756	chr1	22422720	22422721	rs10917151	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?	0.709	6E-6	(Haplotype - GCC)	1.19	[NR]	Illumina [580699]	N
756	chr1	22422720	22422721	rs10917151	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?	0.152	7E-9	(Haplotype - ATT)	1.28	[NR]	Illumina [580699]	N
756	chr1	22439519	22439520	rs4654783	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?,rs16826658-?,rs7521902-?	0.134	8E-7	(Haplotype - ATTGA)	1.25	[NR]	Illumina [580699]	N
756	chr1	22439519	22439520	rs4654783	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?	0.709	6E-6	(Haplotype - GCC)	1.19	[NR]	Illumina [580699]	N
756	chr1	22439519	22439520	rs4654783	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?	0.152	7E-9	(Haplotype - ATT)	1.28	[NR]	Illumina [580699]	N
756	chr1	22447315	22447316	rs3765350	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	1p36.12	WNT4	rs3765350-A	NR	4E-9	(EA)	0.1159	[0.077-0.155] unit increase	Illumina [~ 2500000] (imputed)	N
756	chr1	22447315	22447316	rs3765350	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	1p36.12	WNT4	rs3765350-A	0.78	7E-10		0.107	[0.074-0.140] unit increase	Illumina [~ 2500000] (imputed)	N
756	chr1	22447315	22447316	rs3765350	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	1p36.12	WNT4	rs3765350-A	NR	6E-8	(EA)	0.1071	[0.068-0.146] unit increase	Illumina [~ 2500000] (imputed)	N
756	chr1	22447315	22447316	rs3765350	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	1p36.12	WNT4	rs3765350-A	0.78	3E-8		0.097	[0.062-0.132] unit increase	Illumina [~ 2500000] (imputed)	N
756	chr1	22450486	22450487	rs2235529	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	1p36.12	WNT4	rs2235529-C	NR	3E-7	(EA)	0.1173	[0.072-0.162] unit increase	Illumina [~ 2500000] (imputed)	N
756	chr1	22450486	22450487	rs2235529	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	1p36.12	WNT4	rs2235529-C	0.85	1E-8		0.117	[0.076-0.158] unit increase	Illumina [~ 2500000] (imputed)	N
756	chr1	22450486	22450487	rs2235529	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?,rs16826658-?,rs7521902-?	0.134	8E-7	(Haplotype - ATTGA)	1.25	[NR]	Illumina [580699]	N
756	chr1	22450486	22450487	rs2235529	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?	0.709	6E-6	(Haplotype - GCC)	1.19	[NR]	Illumina [580699]	N
756	chr1	22450486	22450487	rs2235529	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?	0.152	7E-9	(Haplotype - ATT)	1.28	[NR]	Illumina [580699]	N
756	chr1	22450486	22450487	rs2235529	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	LOC100289113, ZBTB40, WNT4	rs2235529-A	0.153	3E-9		1.3	[1.19-1.41]	Illumina [580699]	N
756	chr1	22468214	22468215	rs3820282	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	1p36.12	WNT4	rs3820282-?	NR	8E-8	(Serous)	1.12	[1.07-1.17]	Illumina [up to 10962898] (imputed)	N
756	chr1	22468214	22468215	rs3820282	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	1p36.12	WNT4	rs3820282-?	NR	2E-8		1.11	[1.06-1.15]	Illumina [up to 10962898] (imputed)	N
756	chr1	22485870	22485871	rs16826658	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?,rs16826658-?,rs7521902-?	0.134	8E-7	(Haplotype - ATTGA)	1.25	[NR]	Illumina [580699]	N
756	chr1	22485870	22485871	rs16826658	20601957	Uno S	2010-07-04	Nat Genet	A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.	Endometriosis	1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls	484 Japanese ancestry cases, 3,974 Japanese ancestry controls	1p36.12	WNT4	rs16826658-G	0.523	2E-6		1.2	[1.11-1.29]	Illumina [460945]	N
756	chr1	22490723	22490724	rs7521902	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	1p36.12	WNT4	rs10917151-?,rs4654783-?,rs2235529-?,rs16826658-?,rs7521902-?	0.134	8E-7	(Haplotype - ATTGA)	1.25	[NR]	Illumina [580699]	N
756	chr1	22490723	22490724	rs7521902	23104006	Nyholt DR	2012-10-28	Nat Genet	Genome-wide association meta-analysis identifies new endometriosis risk loci.	Endometriosis	3,181 European ancestry cases, 8,075 European ancestry controls, 1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls	1,044 Japanese ancestry, 4,017 Japanese ancestry controls	1p36.12	WNT4	rs7521902-A	0.238	3E-11		1.19	[1.13-1.25]	Illumina [407632]	N
756	chr1	22490723	22490724	rs7521902	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	1p36.12	WNT4	rs7521902-A	0.31	1E-10	(LSBMD)	0.05	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
756	chr1	22490723	22490724	rs7521902	20852632	Goode EL	2010-09-19	Nat Genet	A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.	Ovarian cancer	1,768 European ancestry cases, 2,354 European ancestry controls	8,709 European ancestry cases, 51,764 European ancestry controls	1p36.12	NR	rs7521902-?	NR	5E-6		1.12	[1.07-1.18]	Illumina [2056878] (imputed)	N
756	chr1	22492886	22492887	rs3920498	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	1p36.12	WNT4	rs3920498-G	NR	1E-10	(EA)	0.139	[0.097-0.181] unit increase	Illumina [~ 2500000] (imputed)	N
756	chr1	22492886	22492887	rs3920498	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	1p36.12	WNT4	rs3920498-G	0.8	2E-12		0.134	[0.097-0.171] unit increase	Illumina [~ 2500000] (imputed)	N
756	chr1	22499529	22499530	rs17360053	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.12	WNT4	rs17360053-G	0.19	9E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
757	chr1	22573941	22573942	rs909814	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p36.12	NR	rs909814-C	0.57460965776591	7E-6	(IGP14)	0.1421	[0.08-0.204] unit increase	Illumina [~ 2500000] (imputed)	N
757	chr1	22573941	22573942	rs909814	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Testosterone levels	1,589 European ancestry female individuals	NA	1p36.12	intergenic	rs909814-T	0.39	9E-7		0.103	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
757	chr1	22587727	22587728	rs72647484	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	1p36.12	WNT4, CDC42	rs72647484-?	0.91	1E-8		1.24	[1.15-1.33]	Affymetrix, Illumina [~ 10000000] (imputed)	N
758	chr1	22698446	22698447	rs7524102	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	1p36.12	RP11-415K20.1, WNT4	rs7524102-G	0.21	3E-9		1.28	[1.17-1.41]	Illumina [234939]	N
758	chr1	22698446	22698447	rs7524102	21533022	Duncan EL	2011-04-21	PLoS Genet	Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.	Bone mineral density	900 European ancestry female individuals with low hip bone mineral density, 1,055 European ancestry female individuals with high hip bone mineral density	20,898 European ancestry female individuals	1p36.12	ZBTB40	rs7524102-G	NR	9E-7	(total hip)	0.44	[NR] unit decrease	Illumina [2543887] (imputed)	N
758	chr1	22698446	22698447	rs7524102	21533022	Duncan EL	2011-04-21	PLoS Genet	Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.	Bone mineral density	900 European ancestry female individuals with low hip bone mineral density, 1,055 European ancestry female individuals with high hip bone mineral density	20,898 European ancestry female individuals	1p36.12	ZBTB40	rs7524102-G	NR	1E-6	(femoral neck)	0.14	[NR] unit decrease	Illumina [2543887] (imputed)	N
758	chr1	22698446	22698447	rs7524102	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	1p36.12	intergenic	rs7524102-A	0.83	2E-13		1.1	[1.05-1.16]	Affymetrix, Illumina [~ 1100000] (imputed)	N
758	chr1	22698446	22698447	rs7524102	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	1p36.12	intergenic	rs7524102-A	0.83	3E-7		1.1	[1.00-1.21]	Affymetrix [NR]	N
758	chr1	22698446	22698447	rs7524102	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	1p36.12	ZBTB40	rs7524102-G	0.17	3E-10		0.09	[0.06-0.12] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
758	chr1	22698446	22698447	rs7524102	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (hip)	6,865 European ancestry individuals	8,510 European ancestry individuals	1p36.12	intergenic	rs7524102-A	0.82	1E-16		0.15	[0.11-0.18] s.d. decrease	Illumina [305051]	N
758	chr1	22698446	22698447	rs7524102	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	1p36.12	ZBTB40	rs7524102-A	0.82	9E-9		0.11	[0.07-0.15] s.d. decrease	Illumina [301019]	N
758	chr1	22698446	22698447	rs7524102	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (hip)	5,861 European ancestry individuals	7,925 European ancestry individuals	1p36.12	ZBTB40	rs7524102-A	0.82	5E-16		0.15	[0.11-0.19] s.d. decrease	Illumina [301019]	N
758	chr1	22700350	22700351	rs34920465	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.12	NR	rs34920465-?	NR	1E-10	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
758	chr1	22700350	22700351	rs34920465	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	1p36.12	ZBTB40	rs34920465-?	NR	3E-8	(FNK)			Affymetrix, Illumina [5842825] (imputed)	N
758	chr1	22700350	22700351	rs34920465	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	1p36.12	ZBTB40	rs34920465-?	NR	3E-13	(spine)			Affymetrix, Illumina [5842825] (imputed)	N
758	chr1	22702230	22702231	rs12568930	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p36.12	NR	rs12568930-A	0.84	4E-13	(EA)	1.1360025		Affymetrix, Illumina [~ 9000000] (imputed)	N
758	chr1	22702230	22702231	rs12568930	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1p36.12	intergenic	rs12568930-T	0.821	1E-17		1.095	[1.054-1.138]	Affymetrix, Illumina [1230000] (imputed)	N
758	chr1	22702857	22702858	rs6696981	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (spine)	6,865 European ancestry individuals	8,510 European ancestry individuals	1p36.12	intergenic	rs6696981-G	0.86	2E-8		0.12	[0.08-0.16] s.d. decrease	Illumina [305051]	N
758	chr1	22711472	22711473	rs6426749	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	1p36.12	ZBTB40	rs6426749-C	0.17	7E-57	(FNBMD)	0.11	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
758	chr1	22711472	22711473	rs6426749	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	1p36.12	ZBTB40	rs6426749-C	0.17	9E-8		0.08	[0.05-0.11] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
758	chr1	22737945	22737946	rs111724808	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p36.12	NR	rs111724808-?	NR	4E-7				Affymetrix [5486770] (imputed)	N
764	chr1	23504794	23504795	rs2806561	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p36.12	LUZP1	rs2806561-A	0.567	2E-20		0.027	[0.021-0.033] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
764	chr1	23536890	23536891	rs1738475	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p36.12	HTR1D	rs1738475-C	0.59	3E-12		0.025	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
765	chr1	23710474	23710475	rs2298632	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1p36.12	TCEA3	rs2298632-T	0.496	1E-14		0.7	[0.52-0.88] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
766	chr1	23766232	23766233	rs1077514	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	1p36.12	ASAP3	rs1077514-C	0.15	6E-9		0.03	[NR] unit decrease	NR [NR] (imputed)	N
768	chr1	24083648	24083649	rs2076346	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1p36.11	TCEB3	rs2076346-?	NR	1E-11	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
770	chr1	24300848	24300849	rs6667686	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.11	SRSF10, PNRC2	rs6667686-G	0.272	2E-6	(Calorimeter activity )	0.04	[NR] counts/d increase	Illumina [899892]	N
771	chr1	24431955	24431956	rs3934861	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	1p36.11	MYOM3	rs3934861-?	NR	4E-6		1.25	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
771	chr1	24497822	24497823	rs6698365	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	1p36.11	IL28RA	rs6698365-?		1E-6				NR [~ 3000000] (imputed)	N
771	chr1	24506048	24506049	rs3893319	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	1p36.11	IL28RA	rs3893319-?		1E-6				NR [~ 3000000] (imputed)	N
772	chr1	24518205	24518206	rs10794648	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	1p36.11	IL28RA	rs10794648-C	0.747	1E-6		1.2	[1.11-1.29]	Illumina [up to 4778154] (imputed)	N
772	chr1	24518205	24518206	rs10794648	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1p36.11	IFNLR1	rs10794648-?	NR	2E-9	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
772	chr1	24519919	24519920	rs4649203	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	1p36.11	IL28RA	rs4649203-A	0.73	7E-8		1.13	[1.05-1.22]	Illumina [535475]	N
772	chr1	24584489	24584490	rs6670533	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	1p36.11	GRHL3	rs6670533-?		6E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
772	chr1	24626173	24626174	rs10794657	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	1p36.11	NR	rs10794657-G	NR	2E-7		0.029	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
776	chr1	25044110	25044111	rs4601530	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p36.11	CLIC4	rs4601530-T	0.26	2E-12		0.028	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
777	chr1	25193154	25193155	rs3131513	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Alcohol dependence	7,188 European ancestry individuals	NA	1p36.11	NR	rs3131513-G	0.401	2E-6		0.353	[NR] unit decrease	Illumina [527829]	N
777	chr1	25273199	25273200	rs7551188	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	1p36.11	RUNX3	rs7551188-T	NR	9E-6		1.18	[1.10-1.28]	Illumina [4929034] (imputed)	N
777	chr1	25296742	25296743	rs10751776	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p36.11	NR	rs10751776-C	0.54112898484173	7E-6	(IGP69)	0.1484	[0.084-0.213] unit increase	Illumina [~ 2500000] (imputed)	N
778	chr1	25297183	25297184	rs11249215	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	1p36.11	RUNX3	rs11249215-A	0.47	9E-11				Illumina [2223620] (imputed)	N
778	chr1	25303575	25303576	rs10903122	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	1p36.11	RUNX3	rs10903122-?	0.52	2E-10		1.12	[1.09-1.18]	Illumina [292387]	N
778	chr1	25328008	25328009	rs6665019	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	1p36.11	intergenic	rs6665019-A	0.1211	5E-6	(Complete)	0.5008	[0.29-0.72] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
778	chr1	25402623	25402624	rs10903027	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p36.11	NR	rs10903027-C	0.707795287049399	5E-6	(IGP67)	0.1594	[0.091-0.228] unit increase	Illumina [~ 2500000] (imputed)	N
779	chr1	25497791	25497792	rs10158481	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	1p36.11	SYF2	rs10158481-T	0.72	3E-6	(women)	0.113	[0.066-0.16] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
780	chr1	25570080	25570081	rs1043879	21700265	Kullo IJ	2011-06-22	Am J Hum Genet	Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.	Erythrocyte sedimentation rate	1,979 European ancestry individuals	5,628 European ancestry individuals	1p36.11	C1orf63	rs1043879-?	NR	2E-9		0.09	[NR] unit decrease	Illumina [476395]	N
780	chr1	25674784	25674785	rs3091242	21700265	Kullo IJ	2011-06-22	Am J Hum Genet	Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.	Erythrocyte sedimentation rate	1,979 European ancestry individuals	5,628 European ancestry individuals	1p36.11	TMEM50A	rs3091242-?	NR	2E-13		0.1	[NR] unit decrease	Illumina [476395]	N
781	chr1	25747229	25747230	rs586178	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	1p36.11	LDLRAP1	rs586178-C	0.5	4E-9		0.037	[0.025-0.049] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
781	chr1	25747229	25747230	rs586178	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	1p36.11	LDLRAP1	rs586178-C	0.5	3E-9		0.037	[0.025-0.049] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
781	chr1	25768936	25768937	rs10903129	21700265	Kullo IJ	2011-06-22	Am J Hum Genet	Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.	Erythrocyte sedimentation rate	1,979 European ancestry individuals	5,628 European ancestry individuals	1p36.11	TMEM57	rs10903129-?	NR	5E-13		0.1	[NR] unit decrease	Illumina [476395]	N
781	chr1	25768936	25768937	rs10903129	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	1p36.11	TMEM57	rs10903129-G	0.54	5E-10		0.06	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
781	chr1	25775732	25775733	rs12027135	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1p36.11	LDLRAP1	rs12027135-A	0.46	2E-14		0.03	[NR] unit decrease	NR [NR] (imputed)	N
781	chr1	25775732	25775733	rs12027135	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	1p36.11	LDLRAP1	rs12027135-A	0.46	5E-12		0.027	[NR] unit decrease	NR [NR] (imputed)	N
781	chr1	25775732	25775733	rs12027135	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	1p36.11	TMEM57, LDLRAP1	rs12027135-A	0.47	1E-10		1.1	[0.75-1.45] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
781	chr1	25775732	25775733	rs12027135	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	1p36.11	TMEM57, LDLRAP1	rs12027135-A	0.47	4E-11		1.22	[0.85-1.59] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
787	chr1	26521139	26521140	rs11809207	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	1p36.11	CATSPER4	rs11809207-?	0.23	6E-8		0.07	[0.04-0.10] s.d. increase	Illumina [229216]	N
787	chr1	26568541	26568542	rs10902723	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.11	CEP85/CCDC21	rs10902723-G	0.411	9E-6	(TBF-b1 )	0.01	[NR] pg/mL increase	Illumina [899892]	N
788	chr1	26619648	26619649	rs6598955	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.11	UBXN11	rs6598955-A	0.256	7E-6	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
788	chr1	26619648	26619649	rs6598955	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.11	UBXN11	rs6598955-A	0.256	4E-6	(HOMA-IR)	0.03	[NR] unit increase	Illumina [899892]	N
788	chr1	26650549	26650550	rs11247915	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p36.11	AIM1L	rs11247915-A	0.233	5E-6	(Calorimeter activity )	0.03	[NR] counts/d increase	Illumina [899892]	N
789	chr1	26741543	26741544	rs7532866	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p36.11	LIN28	rs7532866-A	0.67	3E-8		0.021	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
790	chr1	26884863	26884864	rs3790645	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	1p36.11	RPS6KA1, LIN28A	rs3790645-?		6E-6	(MCRI)	0.34	[0.2-0.48] unit increase	Illumina [693128]	N
790	chr1	26929001	26929002	rs17162257	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	1p36.11	RPS6KA1	rs17162257-?		1E-6				Illumina [859311]	N
792	chr1	27138392	27138393	rs12748152	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	1p36.11	PIGV, NROB2	rs12748152-C	0.91	1E-6		0.05	[0.03-0.07] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
792	chr1	27138392	27138393	rs12748152	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	1p36.11	PIGV, NR0B2	rs12748152-T	0.09	1E-9		0.037	[NR] mg/dL increase	NR [NR] (imputed)	N
792	chr1	27138392	27138393	rs12748152	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1p36.11	PIGV, NR0B2	rs12748152-T	0.09	3E-12		0.05	[NR] unit increase	NR [NR] (imputed)	N
792	chr1	27138392	27138393	rs12748152	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1p36.11	PIGV, NR0B2	rs12748152-T	0.09	1E-15		0.051	[NR] unit decrease	NR [NR] (imputed)	N
793	chr1	27284912	27284913	rs79598313	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	1p36.11	PIGV, NROB2	rs79598313-T	0.02	7E-10		0.12	[0.083-0.157] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
796	chr1	27731650	27731651	rs11548323	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	1p36.11	NR	rs11548323-?	0.17	2E-6		1.396	[1.219-1.598] unit increase	Illumina [563945]	N
800	chr1	28262408	28262409	rs4409675	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		1p35.3	NR	rs4409675-T		2E-6		0.058	[NR] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
807	chr1	29141154	29141155	rs533123	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p35.3	NR	rs533123-A	NR	2E-7		1.08	[NR]	Illumina [7158791] (imputed)	N
808	chr1	29345026	29345027	rs2985334	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	1p35.3	EPB41	rs2985334-?		6E-6				Illumina [859311]	N
815	chr1	30185661	30185662	rs1866967	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	1p35.3	PTPRU	rs1866967-?	NR	5E-6	(rs8102476)	1.2195	[1.12-1.33]	Affymetrix, Illumina [1117531] (imputed)	N
815	chr1	30265651	30265652	rs6691847	23535911	Kitamoto T	2013-03-28	Hum Genet	Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.	Non-alcoholic fatty liver disease	392 Japanese ancestry cases, 934 Japanese ancestry controls	172 Japanese ancestry cases, 1,012 Japanese ancestry controls	1p35.3	PTPRU	rs6691847-C	0.77	7E-6		1.32	[0.98-1.77]	Illumina [261540]	N
817	chr1	30431559	30431560	rs1009080	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	1p35.2	NR	rs1009080-?	NR	3E-6		1.09	[1.05-1.13]	Affymetrix, Illumina [1252901] (imputed)	N
817	chr1	30432218	30432219	rs4949526	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	1p35.2	PTPRU	rs4949526-?	NR	4E-7		1.2805	[NR]	Affymetrix [722112]	N
817	chr1	30433950	30433951	rs1498232	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p35.2	NR	rs1498232-T	NR	7E-10		1.07	[NR]	Illumina [7158791] (imputed)	N
817	chr1	30433950	30433951	rs1498232	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	1p35.2	intergenic	rs1498232-T	0.296	3E-9		1.069	[1.046-1.093]	Affymetrix, Illumina [9005918] (imputed)	N
817	chr1	30437267	30437268	rs6694545	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	1p35.2	intergenic	rs6694545-A		1E-6	(Modelling analysis)	1.07	[1.04-1.11]	NR [1252901] (imputed)	N
817	chr1	30525713	30525714	rs2860031	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	1p35.2	intergenic	rs2860031-?	NR	3E-6		1.22	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
818	chr1	30567595	30567596	rs910696	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	1p35.2	intergenic	rs910696-?	0.31	3E-6	(CPD)	0.08	[NR] cigarettes per day increase	Illumina [~ 518000]	N
818	chr1	30627711	30627712	rs2180233	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	1p35.2	intergenic	rs2180233-C	0.31	9E-6				Perlegen [378332]	N
820	chr1	30925951	30925952	rs667153	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (total eye scanning length)	128 Han Chinese ancestry cases	NA	1p35.2	NR	rs667153-?		4E-6		80.91	[42.55-119.27] unit decrease	Illumina [498648]	N
823	chr1	31315592	31315593	rs4949316	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	1p35.2	intergenic	rs4949316-G	NR	9E-6		0.2127	unit increase	Illumina [5767231] (imputed)	N
827	chr1	31831869	31831870	rs7551345	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p35.2	NR	rs7551345-A	NR	4E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
828	chr1	31883924	31883925	rs4478858	23455491	Zuo L	2013-02-27	Drug Alcohol Depend	NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent.	Alcohol dependence	1,409 European ancestry cases, 1,518 European ancestry controls	6,438 European ancestry individuals from 1,645 affected families	1p35.2	NKAIN1, SNRNP40, ZCCHC17, FABP3, SERINC2	rs4478858-G	NR	3E-8		1.26		Illumina [805814]	N
830	chr1	32152517	32152518	rs4568876	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p35.2	COL16A1	rs4568876-T	0.597	5E-6		0.018	[0.01-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
831	chr1	32327944	32327945	rs11803434	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	1p35.2	NR	rs11803434-G	NR	2E-6	(phenotype 2)	3.57	[NR]	Illumina [> 8000000] (imputed)	N
843	chr1	33928757	33928758	rs12565140	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	1p35.1	NR	rs12565140-?	0.136	3E-7		1.425	[1.247-1.629] unit increase	Illumina [563945]	N
843	chr1	33945600	33945601	rs71647933	26629533	Meng W	2015-08-04	EBioMedicine	A Genome-wide Association Study Provides Evidence of Sex-specific Involvement of Chr1p35.1 (ZSCAN20-TLR12P) and Chr8p23.1 (HMGB1P46) With Diabetic Neuropathic Pain.	Neuropathic pain in type 2 diabetes	470 European ancestry male cases, 491 European ancestry female cases, 2,021 European ancestry male controls, 1,239 European ancestry female controls	NA	1p35.1	ZSCAN20, TLR12P	rs71647933-G	0.16	3E-7	(females)	2.31	[1.68-3.17]	Affymetrix, Illumina [6906962] (imputed)	N
843	chr1	33945830	33945831	rs35260355	26629533	Meng W	2015-08-04	EBioMedicine	A Genome-wide Association Study Provides Evidence of Sex-specific Involvement of Chr1p35.1 (ZSCAN20-TLR12P) and Chr8p23.1 (HMGB1P46) With Diabetic Neuropathic Pain.	Neuropathic pain in type 2 diabetes	470 European ancestry male cases, 491 European ancestry female cases, 2,021 European ancestry male controls, 1,239 European ancestry female controls	NA	1p35.1	ZSCAN20, TLR12P	rs35260355-T	0.16	4E-7		1.66	[1.37-2.02]	Affymetrix, Illumina [6906962] (imputed)	N
844	chr1	33983018	33983019	rs10798959	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	1p35.1	CSMD2	rs10798959-T		8E-6		0.2835	unit increase	Illumina [5767231] (imputed)	N
845	chr1	34173819	34173820	rs564148	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	1p35.1	CSMD2	rs564148-?	NR	9E-6	(SF10)			Affymetrix [5476100] (imputed)	N
845	chr1	34180841	34180842	rs16835742	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	1p35.1	CSMD2	rs16835742-?,rs7533254-?,rs528059-?,rs544991-?	NR	8E-8	(Brain structure)			Illumina [795637]	N
845	chr1	34181829	34181830	rs7533254	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	1p35.1	CSMD2	rs16835742-?,rs7533254-?,rs528059-?,rs544991-?	NR	8E-8	(Brain structure)			Illumina [795637]	N
845	chr1	34186192	34186193	rs528059	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	1p35.1	CSMD2	rs16835742-?,rs7533254-?,rs528059-?,rs544991-?	NR	8E-8	(Brain structure)			Illumina [795637]	N
845	chr1	34189428	34189429	rs544991	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	1p35.1	CSMD2	rs16835742-?,rs7533254-?,rs528059-?,rs544991-?	NR	8E-8	(Brain structure)			Illumina [795637]	N
846	chr1	34248063	34248064	rs476463	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	1p35.1	CSMD2	rs476463-?	0.12	1E-6				Illumina [448293]	N
847	chr1	34359857	34359858	rs2281597	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	1p35.1	CSMD2	rs2281597-?	NR	5E-7				Affymetrix [504219]	N
847	chr1	34424490	34424491	rs483069	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	1p35.1	CSMD2, HMGB4	rs483069-A	0.32	1E-6		0.46	[0.28-0.64] unit decrease	Illumina [NR] (imputed)	N
847	chr1	34439293	34439294	rs506546	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	1p35.1	CSMD2	rs506546-?	NR	1E-6	(Response)	1.32	[NR]	Illumina [~ 7000000] (imputed)	N
850	chr1	34750935	34750936	rs771390	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	1p35.1	C1orf94	rs771390-C	0.757	6E-7	(All GGE)	1.22	[1.12-1.32]	Affymetrix [4560000] (imputed)	N
851	chr1	34989236	34989237	rs10914967	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p34.3	GJB5	rs10914967-A	0.25	6E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
854	chr1	35289038	35289039	rs7526035	22648509	Wang KS	2012-05-31	J Mol Neurosci	PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.	Formal thought disorder in schizophrenia	835 European ancestry cases, 2,694 European ancestry controls	NA	1p34.3	GJA4	rs7526035-?	0.54	9E-6		1.29	[NR]	Affymetrix [729454]	N
857	chr1	35679186	35679187	rs60037734	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p34.3	NR	rs60037734-G	NR	7E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
857	chr1	35687814	35687815	rs673604	21499250	Spurdle AB	2011-04-17	Nat Genet	Genome-wide association study identifies a common variant associated with risk of endometrial cancer.	Endometrial cancer	1,265 European ancestry cases, 5,190 European ancestry controls	3,957 European ancestry cases, 6,886 European ancestry controls	1p34.3	SFPQ	rs673604-?	NR	6E-6		1.21	[1.12-1.32]	Illumina [519655]	N
858	chr1	35908450	35908451	rs2275247	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	1p34.3	KIAA0319L	rs2275247-?		1E-10	(lcSSc)	1.51	[NR]	Illumina [NR]	N
861	chr1	36283953	36283954	rs11264213	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p34.3	NR	rs11264213-A	NR	3E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
864	chr1	36571919	36571920	rs96067	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	1p34.3	COL8A2	rs96067-A	0.8	3E-11		0.03	[-0.0092-0.0692] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
864	chr1	36616940	36616941	rs7537052	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p34.3	NR	rs7537052-G	NR	3E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
866	chr1	36904719	36904720	rs6702784	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	1p34.3	C1orf102, LSCM10, MRPS15	rs6702784-C	0.07	4E-6		1.08	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
868	chr1	37162351	37162352	rs589249	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	1p34.3	GRIK3	rs589249-G	0.64	3E-7		1.2	[NR]	NR [1085772] (imputed)	N
874	chr1	37958812	37958813	rs9253	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	1p34.3	FLJ11730, BC016328	rs9253-?	0.18	4E-6	(RBCC)			Affymetrix [70897]	N
875	chr1	38082121	38082122	rs12039431	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	1p34.3	RSPO1	rs12039431-?	NR	1E-8		1.07	[1.03-1.11]	Illumina [up to 10962898] (imputed)	N
875	chr1	38082121	38082122	rs12039431	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	1p34.3	RSPO1	rs12039431-?	NR	1E-11	(Serous)	1.11	[1.07-1.16]	Illumina [up to 10962898] (imputed)	N
875	chr1	38092722	38092723	rs4074961	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	1p34.3	C1orf109, RSPO1, SNIP1, EPHA10, GNL2, DNALI1, CDCA8	rs4074961-T	0.4361	4E-13		0.0728	[0.053-0.092] unit increase	Illumina [2500000] (imputed)	N
876	chr1	38196840	38196841	rs731174	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	1p34.3	EPHA10	rs731174-?	NR	5E-6	(rs4430796)	1.27	[1.15-1.40]	Affymetrix, Illumina [1117531] (imputed)	N
876	chr1	38247152	38247153	rs12117544	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	1p34.3	RP11-109P14.2	rs12117544-?	NR	8E-6	(Colorword)			Illumina [up to 563855]	N
877	chr1	38278578	38278579	rs28411352	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p34.3	MTF1, INPP5B	rs28411352-T	0.25	6E-9	(EA)	1.1	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
877	chr1	38278578	38278579	rs28411352	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p34.3	MTF1, INPP5B	rs28411352-T	0.25	3E-12		1.11	[1.08-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
877	chr1	38279986	38279987	rs3748682	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	1p34.3	MTF1	rs3748682-T	0.749	9E-6		1.19	[1.10-1.28]	Illumina [870065]	N
879	chr1	38602072	38602073	rs7547921	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p34.3	POU3F1	rs7547921-A	0.09	8E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
879	chr1	38624128	38624129	rs12131057	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	1p34.3	POU3F1	rs12131057-G	0.76	4E-7		1.16	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
879	chr1	38633878	38633879	rs12140275	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p34.3	LOC339442	rs12140275-A	0.81	2E-9		1.11	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
879	chr1	38633878	38633879	rs12140275	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p34.3	LOC339442	rs12140275-A	0.75	4E-9	(EA)	1.11	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
880	chr1	38721662	38721663	rs11802770	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	1p34.3	POU3F1, LOC400750	rs11802770-T	NR	3E-6	(Smoking, ever/never)	0.01	[NR] unit increase	Affymetrix [706791]	N
882	chr1	38994114	38994115	rs11590421	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	1p34.3	LOC400750	rs11590421-?		2E-7				Illumina [859311]	N
885	chr1	39380384	39380385	rs4246511	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	1p34.3	RHBDL2	rs4246511-T	0.271	9E-17		0.24	[0.18-0.3] years increase	Affymetrix, Illumina [2551160] (imputed)	N
886	chr1	39551487	39551488	rs72634501	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	1p34.3	MACF1, PABPC4	rs72634501-T	0.77	8E-10		0.044	[0.03-0.058] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
890	chr1	40028179	40028180	rs4660293	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1p34.3	PABPC4	rs4660293-G	0.24	3E-18		0.035	[NR] unit decrease	NR [NR] (imputed)	N
890	chr1	40028179	40028180	rs4660293	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	1p34.3	MACF1, PABPC4	rs4660293-G	0.23	4E-10		0.48	[0.3-0.66] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
890	chr1	40064960	40064961	rs12037222	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	1p34.3	PABPC4	rs12037222-A	NR	6E-11		0.045	[0.03-0.06] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
890	chr1	40069938	40069939	rs3916164	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	1p34.2	HEYL	rs3916164-G	0.71	3E-10	(MCH)	0.008	[0.0072-0.0088] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
891	chr1	40132794	40132795	rs873917	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	1p34.2	NT5C1A	rs873917-T	0.29	8E-6	(susceptibilty)	1.16	[NR]	Illumina [288357]	N
893	chr1	40433770	40433771	rs3103778	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	PR interval	455 African American individuals	NA	1p34.2	MFSD2	rs3103778-G		9E-6		6.3	[NR] ms increase	Illumina [> 930000]	N
896	chr1	40883094	40883095	rs2235701	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p34.2	NR	rs2235701-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
899	chr1	41239510	41239511	rs4660456	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	1p34.2	NFYC	rs4660456-?	NR	4E-6				Illumina [874956]	N
901	chr1	41530870	41530871	rs6686842	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	1p34.2	SCMH1	rs6686842-C	0.56	2E-8		0.05	[0.02-0.08] s.d. decrease (males)	Affymetrix [402951]	N
902	chr1	41556252	41556253	rs6600365	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p34.2	SCMH1	rs6600365-T	0.569	2E-20		0.027	[0.021-0.033] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
903	chr1	41688937	41688938	rs11209718	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	1p34.2	SCMH1	rs11209718-T	0.44	3E-9		1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
903	chr1	41745769	41745770	rs2154319	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p34.2	SCMH1	rs2154319-T	0.75	2E-12		0.03	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
904	chr1	41832296	41832297	rs10218712	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA		NR	rs10218712-T	NR	4E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
904	chr1	41839821	41839822	rs4660531	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls		intergenic	rs4660531-T	NR	3E-6		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
905	chr1	41987867	41987868	rs654950	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	1p34.2	HIVEP3	rs654950-C	NR	9E-7	(Pi10, All)	0.011	[0.00022-0.02178] unit decrease	Illumina [7600000] (imputed)	N
906	chr1	42093014	42093015	rs752010	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	1p34.2	HIVEP3	rs752010-?	NR	2E-6	(Dominant)	1.7544	[1.41-2.22]	Affymetrix, Illumina [1621689] (imputed)	N
907	chr1	42297123	42297124	rs349423	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	1p34.2	HIVEP3	rs349423-A	0.03	9E-6		2.52	[1.67-3.79]	Illumina [1795103]	N
917	chr1	43596383	43596384	rs16830359	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	1p34.2	SLC2A1	rs16830359-?	NR	1E-7	(additive, recessive)			Affymetrix [361034]	N
917	chr1	43645410	43645411	rs621559	21460395	Gu J	2011-04-02	Cancer Prev Res (Phila)	A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer.	Telomere length	459 individuals	1,160 individuals	1p34.2	WDR65	rs621559-?	NR	2E-6		0.16	[NR] unit increase	Illumina [312531]	N
918	chr1	43688549	43688550	rs150404479	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	1p34.2	NR	rs150404479-?	NR	1E-6				NR [up to 8466825] (imputed)	N
918	chr1	43725243	43725244	rs1210898	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p34.2	NR	rs1210898-T	NR	3E-6		1.1	[NR]	Illumina [7158791] (imputed)	N
920	chr1	44005279	44005280	rs2819332	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	1p34.2	PTPRF	rs2819332-A	0.23	5E-6	(Meta)			Illumina [254145]	N
920	chr1	44037684	44037685	rs3001723	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p34.2	NR	rs3001723-A	NR	3E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
921	chr1	44100083	44100084	rs11210892	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	1p34.2	KDM4A, PTPRF	rs11210892-A	0.323	3E-10		1.0706638	[1.05-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
921	chr1	44117005	44117006	rs660899	22322875	Kim SJ	2012-02-09	Circ J	Genetic association of short sleep duration with hypertension incidence--a 6-year follow-up in the Korean genome and epidemiology study.	Hypertension risk in short sleep duration	4,965 Korean ancestry individuals	NA	1p34.2	JMJD2A	rs660899-?	NR	4E-6	SNP+sleep	7.22	[3.12-16.70]	Affymetrix [334750]	N
921	chr1	44121556	44121557	rs2274465	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1p34.2	KDM4A, PTPRP	rs2274465-C	0.66	2E-9		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
921	chr1	44129778	44129779	rs669446	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	1p34.2	JMJD2A	rs669446-T	0.31	5E-6	(Meta)			Illumina [254145]	N
922	chr1	44215827	44215828	rs2367725	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to event)	16,995 European ancestry individuals	NA	1p34.1	ST3GAL3	rs2367725-T	0.42	9E-6		1.08	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
923	chr1	44319372	44319373	rs3011225	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	1p34.1	ST3GAL3	rs3011225-G	0.22	7E-8	(Joint)			Illumina [254145]	N
924	chr1	44469030	44469031	rs1362153	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	1p34.1	NR	rs1362153-C	0.1	7E-6		1.47	[1.29-1.65]	Illumina [4058415] (imputed)	N
935	chr1	45978674	45978675	rs4660306	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	1p34.1	MMACHC	rs4660306-T	0.33	2E-9		0.0435	[0.03-0.057] unit increase	Affymetrix, Illumina [2090256] (imputed)	N
936	chr1	46084382	46084383	rs1053941	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p34.1	NASP	rs1053941-T	0.23	5E-11	(erythritol)	0.017	[0.011-0.023] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
939	chr1	46487551	46487552	rs2275426	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p34.1	MAST2	rs2275426-A	0.424	3E-6	(EA)	0.015	[0.0087-0.0213] kg/m2 increase	Affymetrix, Illumina [2550021]	N
939	chr1	46487551	46487552	rs2275426	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p34.1	MAST2	rs2275426-A	0.424	2E-6		0.014	[0.0084-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
943	chr1	46989471	46989472	rs17102247	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	1p33	DMBX1, MKNK1_AS1	rs17102247-C	0.05	4E-6	(men)	0.238	[0.14-0.34] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
943	chr1	46990680	46990681	rs7542172	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p33	DMBX1	rs7542172-A	0.15	2E-12	(erythritol)	0.024	[0.018-0.03] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
943	chr1	47045212	47045213	rs11211309	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	1p33	MKNK1, KCN1, MOBKL2C	rs11211309-A	NR	2E-6		1.41	[NR]	Illumina [up to 9792010] (imputed)	N
944	chr1	47179309	47179310	rs10789491	22095909	Lange CM	2011-11-16	Hepatology	Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	707 European ancestry cases	NA	1p33	KIAA0494	rs10789491-G	NR	1E-6		0.312	[0.19-0.44] ug/L increase	NR [NR]	N
945	chr1	47284922	47284923	rs12059860	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Testosterone levels	1,589 European ancestry female individuals	NA	1p33	CYP4B1	rs12059860-C	0.01	8E-6		0.619	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
946	chr1	47331965	47331966	rs6678639	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	1p33	CYP4A11	rs6678639-A	0.86	8E-86	(10-undecenoate (11:1n1)/X-11438)	0.085	[0.077-0.093] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
946	chr1	47347426	47347427	rs6663731	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p33	CYP4A11	rs6663731-A	0.89	1E-14	(tetradecanedioate)	0.062	[0.046-0.078] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
946	chr1	47347426	47347427	rs6663731	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p33	CYP4A11	rs6663731-A	0.88	5E-11	(hexadecanedioate)	0.045	[0.031-0.059] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
946	chr1	47396161	47396162	rs9333029	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p33	CYP4A11	rs9333029-A	0.87	2E-61	(10-undecenoate (11:1n1))	0.07	[0.062-0.078] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
946	chr1	47404185	47404186	rs9332998	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	1p33	CYP4A	rs9332998-C	0.135	5E-32	(SM-9 + 17 other traits)	0.159	[NR] unit decrease	Affymetrix, Illumina [534665]	N
946	chr1	47428557	47428558	rs150968551	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p33	NR	rs150968551-?	NR	4E-7				Affymetrix [5486770] (imputed)	N
948	chr1	47684676	47684677	rs977747	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p33	TAL1	rs977747-T	0.403	2E-8		0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
948	chr1	47684676	47684677	rs977747	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p33	TAL1	rs977747-T	0.391	9E-8	(EA)	0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
948	chr1	47693219	47693220	rs11211480	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	1p33	CYP4A22, LINC00853, PDZK1IP1, TAL1, STIL	rs11211480-G	0.5253	2E-6		1.9278966	[1.66-2.2]	Illumina [8809853] (imputed)	N
950	chr1	47854513	47854514	rs17103186	24963161	Chen P	2014-06-24	Hum Mol Genet	CMPK1 and RBP3 are associated with corneal curvature in Asian populations.	Corneal curvature	3,178 Chinese ancestry individuals, 2,138 Malay ancestry individuals, 2,124 Asian Indian ancestry individuals	2,473 Chinese ancestry individuals, 2,747 Japanese ancestry individuals	1p33	CMPK1	rs17103186-C	0.82	3E-12		0.11	[0.071-0.149] unit increase	Illumina [~ 7000000] (imputed)	N
950	chr1	47918820	47918821	rs527430	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	1p33	FOXD2	rs527430-G	0.39	4E-7	(Citalopram+Buspirone, General side effects)			Affymetrix [421789]	N
951	chr1	48009996	48009997	rs11582540	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	1p33	intergenic	rs11582540-?	NR	3E-6	(SF5)			Affymetrix [5476100] (imputed)	N
951	chr1	48019221	48019222	rs17420782	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety in major depressive disorder	1,080 European ancestry cases, 442 European ancestry controls	NA	1p33	RPL21P24	rs17420782-G	0.16	9E-6	(Quantitative)	0.55	[NR] unit increase	Illumina [471581]	N
951	chr1	48025062	48025063	rs685001	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p33	FOXD2	rs685001-C	0.362	9E-6	(LDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
951	chr1	48098405	48098406	rs2506991	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide)	54 Japanese ancestry cases, 39 Japanese ancestry controls	NA	1p33	LOC388630	rs2506991-G	0.269	2E-6	(Recessive model)	3.948	[2.101-7.418]	Illumina [733202]	N
953	chr1	48254781	48254782	rs6588505	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p33	LOC388630	rs6588505-A	0.322	9E-6	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
953	chr1	48321220	48321221	rs946836	22425255	Lopez LM	2012-03-15	Neurobiol Aging	A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity.	White matter integrity	535 European ancestry individuals	NA	1p33	LOC388630	rs946836-T	0.33	5E-6		0.3	[0.17-0.43] unit increase	Illumina [542050]	N
955	chr1	48549312	48549313	rs12036718	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	1p33	Intergenic	rs12036718-T	0.103	8E-6	(Trend model)	1.68	[0.95-2.99]	Illumina [508761]	N
960	chr1	49177149	49177150	rs186478	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	1p33	NR	rs186478-?		9E-6		0.21	unit increase	Illumina [1211988] (imputed)	N
963	chr1	49589846	49589847	rs657452	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p33	AGBL4	rs657452-A	0.397	2E-13		0.023	[0.017-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
963	chr1	49589846	49589847	rs657452	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p33	AGBL4	rs657452-A	0.394	5E-13	(EA)	0.023	[0.017-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
963	chr1	49589846	49589847	rs657452	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p33	AGBL4	rs657452-A	0.394	3E-7	(EA, men)	0.022	[0.013-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
963	chr1	49589846	49589847	rs657452	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p33	AGBL4	rs657452-A	0.394	2E-8	(EA, women)	0.023	[0.015-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
970	chr1	50559819	50559820	rs11583200	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p33	ELAVL4	rs11583200-C	0.407	6E-9		0.017	[0.012-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
970	chr1	50559819	50559820	rs11583200	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p33	ELAVL4	rs11583200-C	0.396	1E-8	(EA)	0.018	[0.012-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
970	chr1	50572095	50572096	rs12138061	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p33	NR	rs12138061-A	NR	6E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
971	chr1	50607028	50607029	rs12092053	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p33	ELAVL4	rs12092053-C	0.0040	6E-6	(IGFBP-1 )	0.02	[NR] ng/mL increase	Illumina [899892]	N
973	chr1	50909984	50909985	rs17106184	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	1p32.3	FAF1	rs17106184-G		4E-9		1.1	[1.07-1.14]	Affymetrix, Illumina [2500000] (imputed)	N
973	chr1	50937847	50937848	rs3827730	22064162	Edwards AC	2011-11-05	Psychiatr Genet	Genome-wide association study of comorbid depressive syndrome and alcohol dependence.	Depression and alcohol dependence	467 European ancestry cases, 407 European ancestry controls	NA	1p32.3	FAF1	rs3827730-?	NR	4E-6		1.72	[1.36-2.16]	Illumina [876476]	N
978	chr1	51546139	51546140	rs17391905	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	1p32.3	RNF11, CDKN2C, FAF1, C1orf185	rs17391905-G	0.05	3E-10		1.35	[0.90-1.80] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
980	chr1	51859241	51859242	rs6673480	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	1p32.3	EPS15	rs6673480-T	0.07	2E-6		1.35	[1.19-1.52]	Affymetrix, Illumina [2217510] (imputed)	N
993	chr1	53581669	53581670	rs3820201	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	1p32.3	SLC1A7	rs3820201-A	0.62	1E-6	(Hippocampal volume)			Illumina [2131250] (imputed)	N
994	chr1	53629584	53629585	rs6695567	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	1p32.3	SLC1A7	rs6695567-?	0.57	4E-6	(anti-dsDNA +)	1.32	[1.18-1.47]	Illumina [421318] (imputed)	N
994	chr1	53695881	53695882	rs13375749	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p32.3	CPT2	rs13375749-T	0.78	3E-28	(glutaroyl carnitine)	0.03	[0.024-0.036] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
995	chr1	53777630	53777631	rs2788032	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	1p32.3	LRP8	rs2788032-C	0.08	6E-6	(Hispanic, Alcohol intake)	0.15	[0.09-0.22] unit increase	Affymetrix [706791]	N
995	chr1	53845439	53845440	rs2185077	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p32.3	NR	rs2185077-T	NR	3E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
996	chr1	53871084	53871085	rs114216682	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Smoking cessation in chronic obstructive pulmonary disease	1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases	NA	1p32.3	FLJ40434	rs114216682-G	0.97	7E-8		4.49		Illumina [~ 6300000] (imputed)	N
996	chr1	53884456	53884457	rs1776421	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p32.3	NR	rs1776421-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
996	chr1	53958602	53958603	rs1298637	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Nicotine use	7,188 European ancestry individuals	NA	1p32.3	GLIS1	rs1298637-A	0.261	5E-6		5.972	[NR] unit increase	Illumina [527829]	N
996	chr1	53978118	53978119	rs6588480	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	1p32.3	GLIS1, DMRTB1, FLJ40434	rs6588480-A	0.15	8E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
998	chr1	54138853	54138854	rs1879734	26301497	Dina C	2015-08-24	Nat Genet	Genetic association analyses highlight biological pathways underlying mitral valve prolapse.	Mitral valve prolapse	1,442 European ancestry cases, 2,439 European ancestry controls	1,422 European ancestry cases, 6,779 European ancestry controls	1p32.3	GLIS1	rs1879734-T	0.28	1E-7		1.23	[1.14-1.33]	Affymetrix, Illumina [~ 4800000] (imputed)	N
999	chr1	54320336	54320337	rs11206226	22719876	Kawaguchi T	2012-06-14	PLoS One	Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.	Nonalcoholic fatty liver disease	529 Japanese ancestry cases, 932 Japanese ancestry controls	NA	1p32.3	YIPF1	rs11206226-A	0.848	5E-6		1.72	[1.35-2.22]	Illumina [484751]	N
999	chr1	54375569	54375570	rs2235544	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		1p32.3	NR	rs2235544-A	0.46	6E-7	(HD vs. controls)	1.3	[1.17-1.44]	Illumina [414804]	N
999	chr1	54375569	54375570	rs2235544	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	1p32.3	DIO1	rs2235544-A	0.51	8E-32	(FT4)	0.138	[0.11-0.16] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
999	chr1	54375569	54375570	rs2235544	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	1p32.3	DIO1	rs2235544-A	0.51	5E-15	(FT4-Males)	0.143	[0.11-0.18] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
999	chr1	54375569	54375570	rs2235544	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	1p32.3	DIO1	rs2235544-A	0.51	3E-18	(FT4-Females)	0.13	[0.1-0.16] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1000	chr1	54443864	54443865	rs114147144	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p32.3	NR	rs114147144-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1001	chr1	54572242	54572243	rs10788972	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	1p32.3	TCEANC2, LDLRAD1, TMEM59	rs10788972-?	0.435	6E-8		1.56	[NR]	Illumina [3922209] (imputed)	N
1002	chr1	54668277	54668278	rs1890566	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	1p32.3	intergenic	rs1890566-G	0.43	8E-7		1.06	[1.04-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1002	chr1	54673096	54673097	rs10888838	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	1p32.3	MRPL37	rs10888838-?	NR	4E-6	(Males)		[NR]	Illumina [283437]	N
1002	chr1	54696742	54696743	rs4061073	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p32.3	SSBP3	rs4061073-G	0.302	4E-6		0.015	[0.0087-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1004	chr1	54931395	54931396	rs12121623	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Food allergy	671 European ancestry child cases, 144 European ancestry non-allergic non-sensitized child controls, 234 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	1p32.3	SSBP3, ACOT11	rs12121623-?	NR	3E-7				Illumina [6459842] (imputed)	N
1005	chr1	55107018	55107019	rs1368882	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Non-substance related behavioral disinhibition	7,188 European ancestry individuals	NA	1p32.3	GLIS1	rs1368882-A	0.379	2E-6		1.752	[NR] unit increase	Illumina [527829]	N
1008	chr1	55480373	55480374	rs2149039	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	1p32.3	BSND	rs2149039-?	NR	7E-7	(Latino)	1.56	[1.22-2.17]	Affymetrix, Illumina [NR] (imputed)	N
1008	chr1	55496038	55496039	rs11206510	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	1p32.3	PCSK9	rs11206510-T	0.82	9E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1008	chr1	55496038	55496039	rs11206510	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	1p32.3	PCSK9	rs11206510-T	0.77	1E-10		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1008	chr1	55496038	55496039	rs11206510	19198609	Kathiresan S	2009-02-08	Nat Genet	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Myocardial infarction (early onset)	2,967 European ancestry cases, 3,075 European ancestry controls	9,746 European ancestry cases, 9,746 European ancestry controls	1p32.3	PCSK9	rs11206510-T	0.81	1E-8		1.15	[1.10-1.21]	Affymetrix [~ 2500000] (imputed)	N
1008	chr1	55496038	55496039	rs11206510	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	1p32.3	PCSK9	rs11206510-C	0.19	4E-8		0.09	[0.05-0.13] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1008	chr1	55496038	55496039	rs11206510	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	1p32.3	PCSK9	rs11206510-T	0.81	4E-11		3.04	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1008	chr1	55504649	55504650	rs2479409	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1p32.3	PCSK9	rs2479409-G	0.32	3E-50		0.064	[NR] unit increase	NR [NR] (imputed)	N
1008	chr1	55504649	55504650	rs2479409	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	1p32.3	PCSK9	rs2479409-G	0.32	2E-39		0.054	[NR] unit increase	NR [NR] (imputed)	N
1008	chr1	55504649	55504650	rs2479409	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	1p32.3	PCSK9	rs2479409-G	0.3	2E-28		2.01	[1.58-2.44] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1008	chr1	55504649	55504650	rs2479409	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	1p32.3	PCSK9	rs2479409-G	0.3	4E-24		1.96	[1.49-2.43] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1008	chr1	55505646	55505647	rs11591147	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	1p32.3	PCSK9	rs11591147-G	0.98	2E-92		0.528	[0.48-0.58] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1008	chr1	55505646	55505647	rs11591147	22331829	Chasman DI	2012-02-13	Circ Cardiovasc Genet	Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.	Response to statin therapy (LDL-C)	6,989 European ancestry individuals	NA	1p32.3	PCSK9	rs11591147-?	NR	5E-9	(baseline LDL-C)	5.0	[3.43-6.57] mg/dL decrease	Illumina [814418]	N
1008	chr1	55505646	55505647	rs11591147	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	LDL cholesterol	2,758 European ancestry individuals	18,544 European ancestry individuals	1p32.3	PCSK9	rs11591147-T	0.01	2E-44		0.47	[0.41-0.53] percentage SD decrease	Affymetrix [389878]	N
1008	chr1	55512994	55512995	rs2495478	22544364	Turnbull C	2012-04-29	Nat Genet	A genome-wide association study identifies susceptibility loci for Wilms tumor.	Wilms tumor	757 European ancestry cases, 1,879 European ancestry controls	1,488 European ancestry cases, 3,851 European ancestry controls	1p32.3	NR	rs2495478-T	0.04	1E-7		1.4	[1.15-1.72]	Illumina [599255]	N
1009	chr1	55584843	55584844	rs191448950	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	1p32.3	PCSK9	rs191448950-G	0.99	6E-73		0.468	[0.42-0.52] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1009	chr1	55590464	55590465	rs17111652	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	1p32.3	USP24	rs17111652-T	0.0475	9E-8	(O'Connor Slope)	0.071	[NR] unit decrease	Illumina [546355]	N
1009	chr1	55590464	55590465	rs17111652	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	1p32.3	USP24	rs17111652-T	0.047	5E-7	(Categorical PC20)	0.234	[NR] unit decrease	Illumina [546355]	N
1009	chr1	55625547	55625548	rs17111684	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	LDL cholesterol	7,861 African American individuals, 3,425 Hispanic individuals	7,138 African American individuals	1p32.3	PCSK9	rs17111684-A	0.12	2E-17	(AA)	9.01	[NR] unit decrease	Affymetrix [NR]	N
1010	chr1	55742836	55742837	rs12239436	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	1p32.3	intergenic	rs12239436-A	0.14	5E-6		0.0928	[0.053-0.133] unit increase	Affymetrix [~ 2740000] (imputed)	N
1010	chr1	55808142	55808143	rs207145	25352737	Ritchie MD	2014-09-19	Mol Vis	Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.	Age-related cataracts (age at onset)	5,503 European, Black, and other ancestry cases age 50 and older	NA	1p32.3	LOC645506, GOT2L1	rs207145-T	0.1237	8E-6		0.6722	[NR] unit decrease	Illumina [530101]	N
1011	chr1	55958029	55958030	rs1998013	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	1p32.3	USP24, PCSK9	rs1998013-?	0.02	5E-13				Illumina [~ 2000000] (imputed)	N
1012	chr1	56060950	56060951	rs10888935	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	1p32.3	intergenic	rs10888935-?	NR	7E-7	(Interleukin-6)			Affymetrix [2543887] (imputed)	N
1013	chr1	56108603	56108604	rs1165472	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		1p32.2	RP11-466L17.1	rs1165472-G	0.30	4E-6		2.36	[1.64-3.40]	Illumina [518577]	N
1013	chr1	56112773	56112774	rs10443215	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel)	62 Japanese ancestry cases, 42 Japanese ancestry controls	NA	1p32.2	LOC100507652	rs10443215-C	0.04	9E-6	(Allelic)	9.39	[2.77-31.8]	Illumina [555600]	N
1013	chr1	56116504	56116505	rs72669744	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	1p32.2	PCSK9	rs72669744-?	NR	1E-19	(L-LDL-FC)	0.59	[0.47-0.71] unit decrease	Illumina [~ 7700000] (imputed)	N
1014	chr1	56359812	56359813	rs6684428	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	1p32.2	PPAP2B	rs6684428-A	0.16	5E-7	(Smoker)	1.23	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
1018	chr1	56850685	56850686	rs11206801	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal AB1-42 levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	1p32.2	intergenic	rs11206801-A	NR	6E-8	(Controls)			Illumina [498205]	N
1019	chr1	56960122	56960123	rs11206830	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	1p32.2	NR	rs11206830-?	0.02	8E-8		2.162	[NR]	Illumina [1468075]	N
1019	chr1	56962820	56962821	rs17114036	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	1p32.2	PPAP2B	rs17114036-?		2E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1019	chr1	56962820	56962821	rs17114036	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	1p32.2	PPAP2B	rs17114036-?		3E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1019	chr1	56962820	56962821	rs17114036	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	1p32.2	PPAP2B	rs17114036-G	NR	1E-8		1.1494	[1.1-1.22]	Illumina [575000] (imputed)	N
1019	chr1	56962820	56962821	rs17114036	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	1p32.2	PPAP2B	rs17114036-A	0.91	4E-19		1.17	[1.13-1.22]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1019	chr1	56966349	56966350	rs17114046	21846871	Mehta NN	2011-08-01	Circ Cardiovasc Genet	A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 6,996 South Asian ancestry cases, 15,062 controls	21,408 cases, 19,185 controls	1p32.2	PPAP2B	rs17114046-?	NR	3E-7				Illumina [~ 57500]	N
1019	chr1	56966349	56966350	rs17114046	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	1p32.2	PPAP2B	rs17114046-?	NR	2E-7				Illumina [574919]	N
1020	chr1	57126918	57126919	rs2746347	22286170	Cusanovich DA	2012-01-27	Hum Mol Genet	The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.	Lymphocyte counts	462 Hutterite individuals	NA	1p32.2	PRKAA2	rs2746347-?	NR	4E-7				Affymetrix [279749]	N
1021	chr1	57231990	57231991	rs12410615	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	1p32.2	NR	rs12410615-?	NR	2E-6		4.505	[2.73-6.28] unit decrease	Illumina [498648]	N
1021	chr1	57241866	57241867	rs857160	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	1p32.2	C1orf168	rs857160-T		4E-6		100.41	[57.58-143.24] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
1021	chr1	57243453	57243454	rs17372114	22843503	Qi Q	2012-07-26	Hum Mol Genet	Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.	Resistin levels	3,248 European ancestry individuals	659 European ancestry individuals	1p32.2	C1orf168	rs17372114-T	0.59	5E-7		0.04	[0.020-0.060] unit increase	Affymetrix, Illumina [2543887] (imputed)	N
1021	chr1	57269520	57269521	rs6662617	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p32.2	C1orf168	rs6662617-G	0.271	9E-6	(Diet protein )	0.02	[NR] %energy increase	Illumina [899892]	N
1024	chr1	57625931	57625932	rs17541203	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	1p32.2	DAB1	rs17541203-C	0.082	2E-6	(Single Height-female)	0.13	[0.073-0.187] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1024	chr1	57656610	57656611	rs1394397	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p32.2	NR	rs1394397-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1026	chr1	57805549	57805550	rs10159302	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	1p32.2	NR	rs10159302-?	NR	9E-6	(progression)			Illumina [NR]	N
1027	chr1	57966527	57966528	rs1341320	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	1p32.2	DAB1	rs1341320-G	0.064	5E-6		0.18	[0.1-0.26] unit decrease	Illumina [2316178] (imputed)	N
1029	chr1	58256543	58256544	rs35738462	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	1p32.2	NR	rs35738462-T	0.57	2E-6		1.32	[1.20-1.44]	Illumina [4058415] (imputed)	N
1029	chr1	58319827	58319828	rs985795	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	1p32.2	DAB1	rs985795-T	0.946	2E-6		0.094	[0.055-0.133] unit decrease	Illumina [6150213] (imputed)	N
1030	chr1	58367235	58367236	rs6679454	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-10)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	1p32.2	DAB1	rs6679454-G		3E-7	(AA)			Illumina [NR]	N
1033	chr1	58757914	58757915	rs527409	21221998	Kim JJ	2011-01-09	Hum Genet	A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease.	Kawasaki disease	186 Korean ancestry child cases, 600 Korean ancestry controls	514 East Asian ancestry child cases, 1,042 East Asian ancestry controls	1p32.2	DAB1	rs527409-T	0.02	1E-6	(KD)	2.9	[1.85-4.54]	Affymetrix [641760]	N
1035	chr1	59036624	59036625	rs638065	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		1p32.1	intergenic	rs638065-?	NR	8E-6				Illumina [~ 2400000] (imputed)	N
1036	chr1	59162147	59162148	rs2811893	21310492	Huang YC	2011-02-08	Ophthalmology	Genome-wide association study of diabetic retinopathy in a Taiwanese population.	Diabetic retinopathy	174 Han Chinese ancestry Type 2 diabetes cases, 575 Han Chinese ancestry Type 2 diabetes controls, 100 Han Chinese ancestry non-diabetic controls	NA	1p32.1	MYSM1	rs2811893-T	NR	3E-7				Illumina [~ 550000]	N
1037	chr1	59325625	59325626	rs4601609	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	1p32.1	JUN	rs4601609-?	0.04517	5E-6	(PRM)			Illumina [475971]	N
1040	chr1	59690601	59690602	rs12402265	25420145	Debette S	2014-11-24	Nat Genet	Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.	Cervical artery dissection	1,393 European ancestry cases, 14,416 European ancestry controls	659 European ancestry cases, 2,648 European ancestry controls	1p32.1	FGGY	rs12402265-A	0.27	2E-7		1.23	[1.14-1.33]	Illumina [472862]	N
1040	chr1	59762467	59762468	rs835367	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p32.1	FGGY	rs835367-G	0.371	2E-6	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
1041	chr1	59799160	59799161	rs17119280	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	1p32.1	FGGY	rs17119280-?	NR	7E-6	(SAS)			Affymetrix [492000]	N
1041	chr1	59853318	59853319	rs7534016	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p32.1	FGGY	rs7534016-G	0.255	5E-6	(HOMA-IR)	0.03	[NR] unit increase	Illumina [899892]	N
1043	chr1	60084515	60084516	rs12727131	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	1p32.1	FGGY	rs12727131-?	NR	3E-6				Illumina [874956]	N
1043	chr1	60121427	60121428	rs72666268	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	1p32.1	NR	rs72666268-?	NR	6E-8		0.3331	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1048	chr1	60691587	60691588	rs17120400	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	1p32.1	C1orf87	rs17120400-?	0.9	4E-6	(Age 20-60 years)	1.69	[1.35-2.13]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1050	chr1	61041874	61041875	rs12565755	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	1p32.1	intergenic	rs12565755-?	0.14	5E-8	(CHAQ, EA, RF-)	0.39	[NR] unit decrease	Illumina [534053]	N
1050	chr1	61059258	61059259	rs2989476	21738484	Smith EN	2011-06-30	PLoS Genet	Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.	Bipolar disorder	1,190 European and unknown ancestry cases, 401 European and unknown ancestry controls	16,179 individuals	1p32.1	NFIA	rs2989476-C	NR	3E-6		1.16	[NR]	Affymetrix [703019]	N
1050	chr1	61059258	61059259	rs2989476	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	1p32.1	NR	rs2989476-?	NR	2E-6	(dominant)			Affymetrix [NR]	N
1051	chr1	61095557	61095558	rs472913	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	1p32.1	NF1A	rs472913-C	0.50	2E-7		1.18	[1.11-1.25]	Affymetrix, Illumina [2366197] (imputed)	N
1051	chr1	61205468	61205469	rs1514178	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	1p32.1	NFIA	rs1514178-T	NR	2E-7	(EPA)	0.07	[NR] % increase	Affymetrix, Illumina [NR]	N
1053	chr1	61417728	61417729	rs1572312	25729143	Ahmetov I	2014-10-21	Biol Sport	Genome-wide association study identifies three novel genetic markers associated with elite endurance performance.	Maximal oxygen uptake response	15 Russian ancestry male long endurance athletes, 17 Russian ancestry female long endurance athletes, 31 Russian ancestry middle and short endurance athletes, 17 Russian ancestry middle and short endurance athletes	NA	1p31.3	NFIA-AS2	rs1572312-C	NR	2E-6	(FLE, MMSE, FMSE, MA, FA)			Illumina [1140419]	N
1055	chr1	61620495	61620496	rs334699	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	1p31.3	NFIA	rs334699-A	0.052	6E-7	(TSH - Males)	0.149	[0.09-0.208] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr1	61620495	61620496	rs334699	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	1p31.3	NFIA	rs334699-A	0.052	5E-12	(TSH)	0.141	[0.1-0.182] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr1	61620495	61620496	rs334699	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	1p31.3	NFIA	rs334699-A	0.052	2E-7	(TSH - Females)	0.143	[0.09-0.196] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1056	chr1	61791862	61791863	rs6691768	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	1p31.3	NFIA	rs6691768-?	0.62	1E-7		1.11	[1.06-1.15]	Illumina [292387]	N
1056	chr1	61815798	61815799	rs41350144	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs41350144-T	0.477	3E-7	(SM vs. NSM)	2.269	[1.66-3.11]	Affymetrix [703012]	N
1056	chr1	61820071	61820072	rs17121983	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs17121983-?,rs7556462-?	NR	4E-7	(rs17121983-C, rs7556462-C)	2.26	[NR]	Affymetrix [703012]	N
1056	chr1	61821818	61821819	rs7556462	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs7556462-?,rs4915737-?	NR	4E-7	(rs7556462-C, rs4915737-C)	2.26	[NR]	Affymetrix [703012]	N
1056	chr1	61821818	61821819	rs7556462	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs17121983-?,rs7556462-?	NR	4E-7	(rs17121983-C, rs7556462-C)	2.26	[NR]	Affymetrix [703012]	N
1056	chr1	61822282	61822283	rs4915737	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs7556462-?,rs4915737-?	NR	4E-7	(rs7556462-C, rs4915737-C)	2.26	[NR]	Affymetrix [703012]	N
1056	chr1	61824388	61824389	rs41453448	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs41453448-?,rs1125777-?,rs12568010-?	NR	2E-7	(rs41453448-?, rs1125777-?, rs12568010-?)	2.5	[NR]	Affymetrix [703012]	N
1056	chr1	61831889	61831890	rs1125777	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs41453448-?,rs1125777-?,rs12568010-?	NR	2E-7	(rs41453448-?, rs1125777-?, rs12568010-?)	2.5	[NR]	Affymetrix [703012]	N
1056	chr1	61831889	61831890	rs1125777	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs1125777-?,rs12568010-?	NR	2E-7	(rs1125777-?, rs12568010-?)	2.34	[NR]	Affymetrix [703012]	N
1056	chr1	61831937	61831938	rs12568010	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs41453448-?,rs1125777-?,rs12568010-?	NR	2E-7	(rs41453448-?, rs1125777-?, rs12568010-?)	2.5	[NR]	Affymetrix [703012]	N
1056	chr1	61831937	61831938	rs12568010	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	1p31.3	NF1A	rs1125777-?,rs12568010-?	NR	2E-7	(rs1125777-?, rs12568010-?)	2.34	[NR]	Affymetrix [703012]	N
1057	chr1	61897966	61897967	rs2207790	23463857	Ritchie MD	2013-03-05	Circulation	Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.	Electrocardiographic conduction measures	5,272 European ancestry indiviudals	40,407 European ancestry individuals	1p31.3	NFIA	rs2207790-A	0.461	6E-18	(QRS duration - CHARGE)	0.5956	[NR] msec decrease	Illumina [528508]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	8E-6	(BMI )	0.02	[NR] kg/m2 increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	7E-6	(Sleep energy expenditure )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	7E-6	(Leptin )	0.02	[NR] ng/mL increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	7E-6	(Bone mineral content )	0.02	[NR] kg increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	6E-6	(Total energy expenditure )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	3E-7	(Lean body mass )	0.03	[NR] kg increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	3E-7	(Fat free mass )	0.03	[NR] kg increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	3E-6	(Hip circumference )	0.02	[NR] cm increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	2E-7	(Trunk fat mass )	0.04	[NR] kg increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	2E-7	(Fat mass )	0.04	[NR] kg increase	Illumina [899892]	N
1060	chr1	62380297	62380298	rs1056513	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.3	INADL	rs1056513-A	0.495	1E-7	(Weight )	0.03	[NR] kg increase	Illumina [899892]	N
1062	chr1	62594676	62594677	rs2481665	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.3	INADL	rs2481665-T	0.57	6E-7		0.015	[0.0089-0.0207] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1062	chr1	62594676	62594677	rs2481665	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.3	INADL	rs2481665-T	0.566	7E-6	(EA, men)	0.019	[0.01-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1062	chr1	62594676	62594677	rs2481665	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.3	INADL	rs2481665-T	0.564	2E-7	(EA)	0.016	[0.0098-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1064	chr1	62901806	62901807	rs631106	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p31.3	NR	rs631106-?	NR	6E-8	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1064	chr1	62912918	62912919	rs10158897	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	1p31.3	USP1	rs10158897-T	0.2	9E-6	(LDL)	0.021	mmol/L decrease	Affymetrix, Illumina [up to 2249917] (imputed)	N
1065	chr1	62920007	62920008	rs636523	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	1p31.3	DOCK7	rs636523-G	0.2	5E-7	(LDL)	0.021	mmol/L decrease	Affymetrix, Illumina [up to 2249917] (imputed)	N
1065	chr1	62924447	62924448	rs9988450	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	1p31.3	ANGPTL3, DOCK7	rs9988450-C	0.68	6E-34		0.077	[0.065-0.089] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1065	chr1	62931631	62931632	rs1167998	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p31.3	ANGPTL3	rs1167998-?	NR	4E-9	(VLDL.small, fasting)	1.505	[NR] unit decrease	Illumina [335603]	N
1065	chr1	62931631	62931632	rs1167998	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Triglycerides	17,100 European ancestry individuals, 715 Orcadian individuals	NA	1p31.3	DOCK7	rs1167998-C	0.32	2E-12		0.09	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1065	chr1	62950857	62950858	rs10889332	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	1p31.3	DOCK7, ANGPTL3	rs10889332-?	0.29	8E-15				Illumina [~ 2000000] (imputed)	N
1065	chr1	62969401	62969402	rs1168029	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	1p31.3	ANGPTL3	rs1168029-?	NR	3E-13	(MobCH)	0.13	[0.091-0.169] unit increase	Illumina [~ 7700000] (imputed)	N
1065	chr1	62996837	62996838	rs1168013	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	1p31.3	DOCK7, ANGPTL3	rs1168013-G	0.65	6E-8		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1065	chr1	63025941	63025942	rs2131925	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	1p31.3	ANGPTL3	rs2131925-G	0.34	3E-74		0.066	[NR] mg/dL decrease	NR [NR] (imputed)	N
1065	chr1	63025941	63025942	rs2131925	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1p31.3	ANGPTL3	rs2131925-G	0.34	3E-32		0.049	[NR] unit decrease	NR [NR] (imputed)	N
1065	chr1	63025941	63025942	rs2131925	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	1p31.3	ANGPTL3	rs2131925-G	0.34	4E-80		0.075	[NR] unit decrease	NR [NR] (imputed)	N
1065	chr1	63025941	63025942	rs2131925	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	1p31.3	DOCK7, ANGPTL3	rs2131925-G	0.32	9E-43		4.94	[4.16-5.72] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1065	chr1	63025941	63025942	rs2131925	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	1p31.3	DOCK7, ANGPTL3	rs2131925-G	0.32	3E-18		1.59	[1.22-1.96] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1065	chr1	63025941	63025942	rs2131925	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	1p31.3	DOCK7, ANGPTL3	rs2131925-G	0.32	5E-41		2.6	[2.21-2.99] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1066	chr1	63049550	63049551	rs11207995	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	1p31.3	ANGPTL3, DOCK7	rs11207995-A	0.67	2E-34		0.076	[0.064-0.088] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1066	chr1	63049550	63049551	rs11207995	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	1p31.3	DOCK7	rs11207995-C	0.22	6E-10	(TC)	0.012	[0.00024-0.02376] mmol/L decrease	Affymetrix, Illumina [up to 2249917] (imputed)	N
1066	chr1	63049592	63049593	rs1748195	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p31.3	USP1	rs1748195-G	0.3299	7E-8	(EA)	1.0702562	[1.05-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1066	chr1	63049592	63049593	rs1748195	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	Triglycerides	8,684 European ancestry individuals	9,741 European ancestry individuals	1p31.3	ANGPTL3	rs1748195-C	0.70	2E-10		7.12	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1066	chr1	63078221	63078222	rs10889348	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	1p31.3	ANGPTL3, DOCK7	rs10889348-A	0.67	2E-11		0.043	[0.031-0.055] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1066	chr1	63118195	63118196	rs10889353	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Triglycerides	8,993 Japanese ancestry individuals	NA	1p31.3	ANGPTL3	rs10889353-C	0.14	2E-9		0.126	[0.085-0.167] unit decrease	Illumina [561583]	N
1066	chr1	63118195	63118196	rs10889353	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p31.3	ANGPTL3	rs10889353-?	NR	7E-10	(VLDL.small, whole)	1.323	[NR] unit decrease	Illumina [335603]	N
1066	chr1	63118195	63118196	rs10889353	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p31.3	ANGPTL3	rs10889353-?	NR	3E-10	(VLDL.medium, fasting)	1.32	[NR] unit decrease	Illumina [335603]	N
1066	chr1	63118195	63118196	rs10889353	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p31.3	ANGPTL3	rs10889353-?	NR	2E-11	(TG.by.NMR, fasting)	0.035	[NR] unit decrease	Illumina [335603]	N
1066	chr1	63118195	63118196	rs10889353	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p31.3	ANGPTL3	rs10889353-?	NR	1E-14	(VLDL.total, whole)	2.973	[NR] unit decrease	Illumina [335603]	N
1066	chr1	63118195	63118196	rs10889353	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p31.3	ANGPTL3	rs10889353-?	NR	1E-13	(TG.by.NMR, whole)	0.033	[NR] unit decrease	Illumina [335603]	N
1066	chr1	63118195	63118196	rs10889353	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p31.3	ANGPTL3	rs10889353-?	NR	1E-12	(VLDL.total, fasting)	2.688	[NR] unit decrease	Illumina [335603]	N
1066	chr1	63118195	63118196	rs10889353	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	1p31.3	DOCK7	rs10889353-C	0.32	8E-6		0.06	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1066	chr1	63118195	63118196	rs10889353	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	1p31.3	DOCK7	rs10889353-C	0.32	4E-12		0.08	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1066	chr1	63118195	63118196	rs10889353	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	1p31.3	ANGPTL3	rs10889353-C	0.33	3E-7		0.05	[0.01-0.09] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1066	chr1	63128080	63128081	rs1168103	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	1p31.3	DOCK7, ATG4C, USP1	rs1168103-T	NR	7E-7		4.968	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1067	chr1	63191776	63191777	rs12130333	18193044	Kathiresan S	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	Triglycerides	2,758 individuals	18,544 individuals	1p31.3	DOCK7, ANGPTL3, ATG4C	rs12130333-T	0.22	2E-8		0.11	[0.07-0.15] percentage SD decrease	Affymetrix [389878]	N
1067	chr1	63199935	63199936	rs6679002	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p31.3	ANGPTL3	rs6679002-T	0.59	2E-15	(X-03094)	0.014	[0.01-0.018] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1069	chr1	63474880	63474881	rs4915863	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	1p31.3	ATG4C	rs4915863-A	0.1	9E-6		0.00275	[0.0015-0.004] unit increase	Affymetrix [1219546] (imputed)	N
1069	chr1	63480729	63480730	rs17124318	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Weight	1,780 Filipino ancestry females	NA	1p31.3	ATG4C	rs17124318-C	0.87	4E-6		3.98	[2.30-5.66] kg increase	Affymetrix [2073674] (imputed)	N
1069	chr1	63480729	63480730	rs17124318	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Body mass index	1,780 Filipino ancestry females	NA	1p31.3	ATG4C	rs17124318-C	0.87	6E-7		0.07	[0.04-0.10] unit increase	Affymetrix [2073674] (imputed)	N
1070	chr1	63586972	63586973	rs7526034	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	1p31.3	LOC199897	rs7526034-?	NR		<1 x 10-6 (multiple phenotypes)			Illumina [530992]	N
1070	chr1	63591128	63591129	rs10493340	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Blood pressure	Up to 1,327 individuals	NA	1p31.3	intergenic	rs10493340-?	NR	2E-6	(SBP)			Affymetrix [70897]	N
1074	chr1	64108770	64108771	rs2269241	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	1p31.3	PGM1	rs2269241-G	0.19	4E-7		1.1	[1.02-1.18]	Affymetrix, Illumina [841622] (imputed)	N
1074	chr1	64127467	64127468	rs2749097	21665994	Kutalik Z	2011-06-10	Hum Mol Genet	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	Alcohol consumption (transferrin glycosylation)	5,181 European ancestry individuals	2,284 European ancestry individauls	1p31.3	PGM1	rs2749097-G	0.19	2E-9	(CDT percent)	0.12	[0.08-0.16] unit decrease	Affymetrix [390631] (imputed)	N
1077	chr1	64538960	64538961	rs1747924	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	1p31.3	ROR1	rs1747924-A	0.767	7E-6		1.1111112	[1.06-1.16]	Illumina [866891] (imputed)	N
1079	chr1	64868351	64868352	rs11208446	22085899	Chen G	2011-11-16	Eur J Hum Genet	UGT1A1 is a major locus influencing bilirubin levels in African Americans.	Bilirubin levels	619 African American individuals	NA	1p31.3	RNU7-62P	rs11208446-A	0.275	9E-6		0.12	[0.067-0.172] unit increase	Affymetrix [808465]	N
1084	chr1	65412136	65412137	rs17127169	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	1p31.3	NR	rs17127169-G	0.085	5E-6	(EA)	0.08	[0.047-0.113] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1084	chr1	65515532	65515533	rs478665	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	1p31.3	NR	rs478665-?	0.05	1E-6		1.772	[1.407-2.233] unit increase	Illumina [563945]	N
1087	chr1	65815658	65815659	rs1413885	22216198	Athanasiadis G	2011-12-28	PLoS One	A genome-wide association study of the Protein C anticoagulant pathway.	Anticoagulant levels	397 European ancestry individuals from 21 families	NA	1p31.3	DNAJC6	rs1413885-C	0.322	3E-7	(fPS)	0.428	[NR] SD increase	Illumina [283437]	N
1087	chr1	65816566	65816567	rs10789181	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1p31.3	LEPR	rs10789181-A	0.39	4E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1088	chr1	65979279	65979280	rs11208659	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	1p31.3	LEPR	rs11208659-C	0.08	2E-9		1.42	[1.27-1.59]	Affymetrix [~ 2000000] (imputed)	N
1088	chr1	65992624	65992625	rs1751492	20167575	Sun Q	2010-02-22	Hum Mol Genet	Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.	Soluble leptin receptor levels	684 European ancestry type 2 diabetes female cases, 820 European ancestry female controls	875 European ancestry male individuals	1p31.3	LEPR	rs1751492-C	0.30	6E-13	(Nurses Health Study)	7.6	[5.64-9.56] % decrease	Affymetrix [2543887] (imputed)	N
1089	chr1	66086193	66086194	rs10889569	23844046	Dorajoo R	2013-07-02	PLoS One	Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?	C-reactive protein	2,179 Chinese ancestry individuals, 2,275 Malay ancestry individuals, 2,238 Asian Indian ancestry individuals	NA	1p31.3	LEPR	rs10889569-T	0.778	9E-9		0.05	[NR] unit increase	Illumina [up to 1745429] (imputed)	N
1089	chr1	66089781	66089782	rs6700896	19567438	Elliott P	2009-07-01	JAMA	Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.	C-reactive protein	17,967 European ancestry and Indian Asian ancestry individuals	13,615 European ancestry and Indian Asian ancestry Individuals	1p31.3	LEPR	rs6700896-T	NR	3E-14		14.8	[12.0-17.6] % decrease	Affymetrix, Illumina, Perlegen [~ 1400000] (imputed)	N
1089	chr1	66102256	66102257	rs1805096	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	1p31.3	LEPR	rs1805096-A	0.451	2E-9	(HA women)	0.113	[0.064-0.162] unit decrease	Affymetrix [up to 2203609] (imputed)	N
1089	chr1	66105943	66105944	rs1892534	18439548	Ridker PM	2008-04-24	Am J Hum Genet	Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.	C-reactive protein	6,345 European ancestry female individuals	NA	1p31.3	LEPR	rs1892534-A	NR	7E-21		0.17	[NR] mg/dl decrease	Illumina [336108]	N
1089	chr1	66117828	66117829	rs1938492	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	1p31.3	LEPR	rs1938492-A	0.62	5E-14	(EA)	0.008	[0.006-0.01] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
1089	chr1	66161460	66161461	rs4420065	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	1p31.3	LEPR	rs4420065-C	NR	4E-62		0.09	[0.08-0.10] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1089	chr1	66169678	66169679	rs12753193	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	1p31.3	LEPR	rs12753193-G	0.45	4E-7	(CRP)	0.13	[-0.02-0.27] mmol/l decrease	Illumina [329091]	N
1089	chr1	66170361	66170362	rs17407594	25223902	Go MJ	2014-09-16	Genomics	A genome-wide association study identifies a LEPR gene as a novel predisposing factor for childhood fasting plasma glucose.	Fasting plasma glucose (childhood)	484 Korean ancestry children	776 Korean ancestry children	1p31.3	LEPR	rs17407594-A	NR	5E-8		0.157	[0.10-0.21] mmol/l increase	Illumina [747076]	N
1090	chr1	66279124	66279125	rs4384209	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	1p31.3	PDE4B	rs4384209-G	NR	2E-6		0.126	[0.073-0.179] unit increase	Illumina [628922]	N
1090	chr1	66310864	66310865	rs10493389	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Echocardiographic traits	Up to 1,238 European ancestry individuals	NA	1p31.3	PDE4B	rs10493389-?	NR	7E-6	(LAD)			Affymetrix [70897]	N
1091	chr1	66324511	66324512	rs12129719	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p31.3	NR	rs12129719-A	NR	1E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1092	chr1	66520997	66520998	rs2455012	24847357	Ye Z	2014-05-09	Front Genet	Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.	Staphylococcus aureus infection	309 European ancestry cases, 2,925 European ancestry controls	NA	1p31.3	PDE4B	rs2455012-T	0.04519	7E-7		2.17	[1.59-2.93]	Illumina [508921]	N
1093	chr1	66689108	66689109	rs17423910	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	1p31.3	PDE4B	rs17423910-G	0.17	6E-6	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
1094	chr1	66762465	66762466	rs546784	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1p31.3	PDE4B	rs546784-A	0.457	9E-6		1.4	[1.20-1.62]	Affymetrix [444044]	N
1094	chr1	66769099	66769100	rs6683977	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1p31.3	PDE4B	rs6683977-C	0.449	5E-6		1.41	[1.22-1.64]	Affymetrix [444044]	N
1096	chr1	67046125	67046126	rs1867631	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	1p31.3	SGIP1	rs1867631-A	0.2892	5E-6		0.1071	[0.060-0.154] years decrease	NR [NR]	N
1097	chr1	67123056	67123057	rs6681460	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	1p31.3	SGIP1	rs6681460-?	0.3755	7E-6	(ACL)	1.827	[NR]	Affymetrix [906600]	N
1100	chr1	67590460	67590461	rs11209002	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1100	chr1	67590460	67590461	rs11209002	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1100	chr1	67597118	67597119	rs3762318	22019778	Zhang F	2011-10-23	Nat Genet	Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.	Leprosy	706 Han Chinese ancestry cases, 5,581 Han Chinese ancestry controls	3,301 Han Chinese ancestry cases, 5,299 Han Chinese ancestry controls	1p31.3	IL23R	rs3762318-A	0.10	3E-11		1.45	[1.30-1.61]	NR [1701673] (imputed)	N
1100	chr1	67597976	67597977	rs2024825	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	1p31.3	IL23R	rs2024825-A	0.895	4E-33		1.5873016	[NR]	Illumina [4577171] (imputed)	N
1100	chr1	67600100	67600101	rs12069782	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p31.3	NR	rs12069782-?	NR	3E-7				Affymetrix [5486770] (imputed)	N
1100	chr1	67601131	67601132	rs11209003	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1100	chr1	67601131	67601132	rs11209003	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1100	chr1	67627827	67627828	rs117633859	25108386	Hou S	2014-08-10	Nat Genet	Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.	Vogt-Koyanagi-Harada syndrome	774 Han Chinese ancestry cases, 2,009 Han Chinese ancestry controls	764 Han Chinese ancestry cases, 3594 Han Chinese ancestry controls	1p31.3	C1orf141, IL23R	rs117633859-G	0.095	3E-21		1.82	[1.60-2.05]	Affymetrix, Illumina [2208258] (imputed)	N
1101	chr1	67635949	67635950	rs2295359	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	1p31.3	IL23R	rs2295359-A	0.344	8E-8	(EA, conditional on rs12564022)	1.15	[1.09-1.21]	Illumina [up to 4778154] (imputed)	N
1101	chr1	67648595	67648596	rs76418789	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	1p31.3	IL23R	rs76418789-G	0.931	2E-10		2.06	[1.64-2.58]	Illumina [5664371] (imputed)	N
1101	chr1	67653009	67653010	rs2064689	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67653009	67653010	rs2064689	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67670212	67670213	rs1004819	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67670212	67670213	rs1004819	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67670754	67670755	rs12564022	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	1p31.3	IL23R	rs12564022-T	0.275	2E-9	(EA)	1.17	[1.11-1.23]	Illumina [up to 4778154] (imputed)	N
1101	chr1	67670915	67670916	rs2902440	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67670915	67670916	rs2902440	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67675515	67675516	rs11805303	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	1p31.3	IL23R	rs11805303-T	0.32	6E-12		1.39	[1.22-1.58]	Affymetrix [469557]	N
1101	chr1	67681668	67681669	rs7517847	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p31.3	NR	rs7517847-C	0.56	1E-159	(EA)	1.3990791		Affymetrix, Illumina [~ 9000000] (imputed)	N
1101	chr1	67681668	67681669	rs7517847	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	8,631 European ancestry individuals	NA	1p31.3	IL23R	rs7517847-T	0.578	4E-6		0.19	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1101	chr1	67681668	67681669	rs7517847	17435756	Rioux JD	2007-04-15	Nat Genet	Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.	Crohn's disease	946 cases, 977 controls	530 trios, 353 cases, 207 controls	1p31.3	IL23R	rs7517847-?	0.40	3E-12				Illumina [304413]	N
1101	chr1	67685597	67685598	rs11465802	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67685597	67685598	rs11465802	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67694201	67694202	rs2201841	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	1p31.3	IL23R	rs2201841-C	NR	1E-13		1.16	[NR]	Illumina [266047]	N
1101	chr1	67694201	67694202	rs2201841	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	1p31.3	IL23R	rs2201841-G	0.30	3E-8		1.13	[NR]	Perlegen [~ 2500000] (imputed)	N
1101	chr1	67694201	67694202	rs2201841	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67694201	67694202	rs2201841	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67702525	67702526	rs11465804	20570966	McGovern DP	2010-06-22	Hum Mol Genet	Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.	Crohn's disease	896 European ancestry cases, 3,204 European ancestry controls	1,174 European ancestry cases, 357 European ancestry controls	1p31.3	IL23R	rs11465804-?	NR	1E-6		1.89	[1.47-2.44]	Illumina [304825]	N
1101	chr1	67702525	67702526	rs11465804	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	1p31.3	IL23R	rs11465804-T	0.93	7E-63		2.5	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1101	chr1	67702525	67702526	rs11465804	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67702525	67702526	rs11465804	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67705957	67705958	rs11209026	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1p31.3	IL23R	rs11209026-?	NR	2E-10	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1101	chr1	67705957	67705958	rs11209026	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1p31.3	IL12RB2, IL23R	rs11209026-G	0.933	8E-161		2.013	[1.885-2.15]	Affymetrix, Illumina [1230000] (imputed)	N
1101	chr1	67705957	67705958	rs11209026	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	1p31.3	IL23R	rs11209026-G	NR	4E-14		2.84	[NR]	Illumina [508934]	N
1101	chr1	67705957	67705958	rs11209026	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	1p31.3	IL12RB2, C1orf141, SERBP1, SLC35D1, IL23R	rs11209026-G	0.921	1E-18		2.2	[2.10-2.35]	Affymetrix, Illumina [1060934] (imputed)	N
1101	chr1	67705957	67705958	rs11209026	22293688	Huang J	2012-02-01	Eur J Hum Genet	1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.	Crohn's disease	16,179 European ancestry individuals	NA	1p31.3	IL23R	rs11209026-?	NR	4E-21		3.18	[2.91-3.44]	NR [6233112] (imputed)	N
1101	chr1	67705957	67705958	rs11209026	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	1p31.3	IL23R	rs11209026-G	0.93	2E-17				Illumina [2223620] (imputed)	N
1101	chr1	67705957	67705958	rs11209026	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	1p31.3	IL23R	rs11209026-G	0.94	5E-28		1.74	[1.57-1.92]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1101	chr1	67705957	67705958	rs11209026	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	1p31.3	IL23R	rs11209026-G	0.932	1E-64		2.66	[2.36-3.00]	Affymetrix, Illumina [953241] (imputed)	N
1101	chr1	67705957	67705958	rs11209026	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	1p31.3	IL23R	rs11209026-?	NR	7E-7		1.49	[1.27-1.74]	Illumina [535475]	N
1101	chr1	67705957	67705958	rs11209026	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	1p31.3	IL23R	rs11209026-?	0.94	9E-14		1.89	[1.56-2.27]	Illumina [288662]	N
1101	chr1	67705957	67705958	rs11209026	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	1p31.3	IL23R	rs11209026-?	NR	3E-10				Affymetrix [NR]	N
1101	chr1	67705957	67705958	rs11209026	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	1p31.3	IL23R	rs11209026-?	0.93	1E-8		1.79		Illumina [280748]	N
1101	chr1	67705957	67705958	rs11209026	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	1p31.3	IL23R	rs11209026-?	0.94	7E-11		2.56	[1.92-3.45]	Illumina [NR]	N
1101	chr1	67705957	67705958	rs11209026	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67705957	67705958	rs11209026	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67705957	67705958	rs11209026	17447842	Libioulle C	2007-03-05	PLoS Genet	Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.	Crohn's disease	547 European ancestry cases, 928 European ancestry controls	1,266 European ancestry cases, 559 European ancestry controls, Up to 428 European ancestry trios	1p31.3	IL23R	rs11209026-?	0.92	2E-18		2.92	[NR]	Illumina [302451]	N
1101	chr1	67708154	67708155	rs80174646	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p31.3	NR	rs80174646-C	0.93	4E-62	(EA)	1.614317		Affymetrix, Illumina [~ 9000000] (imputed)	N
1101	chr1	67719128	67719129	rs1343151	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67719128	67719129	rs1343151	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67722566	67722567	rs10889676	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67722566	67722567	rs10889676	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67725119	67725120	rs10889677	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	1p31.3	IL23R	rs10889677-A	0.30	1E-8		1.29		Illumina [280748]	N
1101	chr1	67725119	67725120	rs10889677	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67725119	67725120	rs10889677	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67726103	67726104	rs9988642	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67726103	67726104	rs9988642	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67728017	67728018	rs12567232	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67728017	67728018	rs12567232	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67730054	67730055	rs6669582	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67730054	67730055	rs6669582	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67730627	67730628	rs10789230	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.97	2E-7		2.56	[1.75-3.70]	Perlegen [164279]	N
1101	chr1	67730627	67730628	rs10789230	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	1p31.3	IL23R	rs11209003-?,rs11209002-?,rs2064689-?,rs1004819-?,rs2902440-?,rs11465802-?,rs2201841-?,rs11465804-?,rs11209026-?,rs1343151-?,rs10889676-?,rs10889677-?,rs9988642-?,rs12567232-?,rs6669582-?,rs10789230-?	0.23	1E-8		1.38	[1.23-1.53]	Perlegen [164279]	N
1101	chr1	67731367	67731368	rs7547569	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p31.3	NR	rs7547569-?	NR	2E-170	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1101	chr1	67747414	67747415	rs12119179	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1p31.3	retro-DNAJB6	rs12119179-?	NR	6E-13	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1101	chr1	67753507	67753508	rs1495965	20622879	Mizuki N	2010-07-11	Nat Genet	Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Beh&#x000e7;et's disease susceptibility loci.	Behcet's disease	611 Japanese ancestry cases, 737 Japanese ancestry controls	119 Korean ancestry cases, 140 Korean ancestry controls, 1,215 Turkish cases, 1,279 Turkish controls	1p31.3	IL12RB2, IL23R	rs1495965-G	0.51	2E-11		1.35	[1.24-1.47]	Affymetrix [320438]	N
1101	chr1	67760139	67760140	rs924080	20622878	Remmers EF	2010-07-11	Nat Genet	Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Beh&#x000c3;&#x000a7;et's disease.	Behcet's disease	1,215 Turkish ancestry cases, 1,278 Turkish ancestry controls	Up to 111 Turkish ancestry cases, 225 Turkish ancestry controls, 189 Middle Eastern Arab ancestry cases, 163 Middle Eastern Arab ancestry controls, 227 European ancestry cases, 203 European ancestry controls, 688 East Asian ancestry cases, 791 East Asian ancestry controls	1p31.3	IL12RB2, IL23R	rs924080-?	NR	7E-9		1.28	[1.18-1.39]	Illumina [311459]	N
1102	chr1	67790597	67790598	rs17129789	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	1p31.3	IL12RB2	rs17129789-C	0.18	9E-20		1.52	[1.39-1.67]	Illumina [507467]	N
1102	chr1	67822376	67822377	rs3790567	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	1p31.3	IL12RB2	rs3790567-A	0.232	8E-12		1.48	[NR]	Illumina [276459]	N
1102	chr1	67822376	67822377	rs3790567	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	1p31.3	IL12RB2	rs3790567-A	0.24	3E-11		1.51	[1.33-1.70]	Illumina [305724]	N
1104	chr1	68105452	68105453	rs344924	23478653	Han JY	2013-03-12	Pharmacogenomics J	A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.	Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer	139 individuals	NA	1p31.3	intergenic	rs344924-?	NR	3E-7	(Recessive model)	4.9	[2.70-9.0]	Affymetrix [334127]	N
1108	chr1	68633923	68633924	rs1367448	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)	184 Japanese ancestry cases, 459 Japanese ancestry controls	NA	1p31.3	LOC100289178	rs1367448-C	0.526	5E-6	(Dominant model)	1.554	[1.212-1.993]	Illumina [733202]	N
1108	chr1	68635074	68635075	rs1430742	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	1p31.3	GPR177	rs1430742-C	0.21	3E-13		0.11	[0.07-0.14] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
1108	chr1	68635389	68635390	rs2566755	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	1p31.3	GPR177	rs2566755-C	0.21	2E-12		0.1	[0.07-0.13] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
1108	chr1	68647715	68647716	rs12407028	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	1p31.3	WLS	rs12407028-T	0.6	3E-45	(LSBMD)	0.08	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1108	chr1	68657509	68657510	rs1430740	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	1p31.3	GPR177	rs1430740-?	NR	1E-11	(spine)			Affymetrix, Illumina [5842825] (imputed)	N
1109	chr1	68785212	68785213	rs11209261	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	1p31.3	GPR177	rs11209261-?	0.24	3E-6	(FEV1 65%)	1.2346	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
1110	chr1	68927512	68927513	rs435066	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.3	NR	rs435066-C	0.196103507788162	7E-6	(IGP71)	0.1774	[0.1-0.255] unit decrease	Illumina [~ 2500000] (imputed)	N
1110	chr1	68927512	68927513	rs435066	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.3	NR	rs435066-C	0.196103507788162	5E-6	(IGP70)	0.1801	[0.1-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1110	chr1	68927512	68927513	rs435066	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.3	NR	rs435066-C	0.195968165182547	8E-6	(IGP72)	0.1763	[0.099-0.254] unit increase	Illumina [~ 2500000] (imputed)	N
1110	chr1	68927512	68927513	rs435066	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.3	NR	rs435066-C	0.195964786286732	4E-6	(IGP62)	0.1812	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1110	chr1	68927512	68927513	rs435066	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.3	NR	rs435066-C	0.195829321603564	7E-6	(IGP63)	0.1765	[0.1-0.253] unit increase	Illumina [~ 2500000] (imputed)	N
1114	chr1	69369836	69369837	rs7551318	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.2	DEPDC1	rs7551318-T	0.933	7E-7	(EA, men)	0.062	[0.038-0.087] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1115	chr1	69558138	69558139	rs3123012	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	1p31.2	intergenic	rs3123012-T	0.0901	5E-6		2.3069	[1.95-2.67]	Illumina [8809853] (imputed)	N
1115	chr1	69579251	69579252	rs4147141	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	1p31.2	intergenic	rs4147141-?	NR	8E-6	(binary)			Perlegen [429981]	N
1115	chr1	69579251	69579252	rs4147141	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	1p31.2	intergenic	rs4147141-?	NR	6E-6	(count)			Perlegen [429981]	N
1116	chr1	69684996	69684997	rs4650135	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	1p31.2	intergenic	rs4650135-?		2E-6	(M)	29.56	[17.8-41.32] unit decrease	Illumina [693128]	N
1116	chr1	69684996	69684997	rs4650135	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	1p31.2	intergenic	rs4650135-?	NR	5E-6	(binary)			Perlegen [429981]	N
1117	chr1	69788481	69788482	rs10789285	25939698	Tsoi LC	2015-05-05	Nat Commun	Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.	Psoriasis	3,994 European ancestry cases, 7,699 European ancestry controls	6,268 European ancestry cases,  14,172 European ancestry controls, 5,033 cases, 5,707 controls	1p31.1	LRRC7	rs10789285-G	0.25	3E-9		1.12	[NR]	Illumina [696365] (imputed)	N
1119	chr1	70084796	70084797	rs11809230	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	1p31.1	NR	rs11809230-T	NR	6E-6		0.29	[0.17-0.41] unit increase	NR [5896100] (imputed)	N
1120	chr1	70147865	70147866	rs181704351	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (age at onset)	5,148 European ancestry users	NA	1p31.1	NR	rs181704351-T		5E-6		0.46	[0.28-0.64] unit increase	NR [5896100] (imputed)	N
1120	chr1	70154440	70154441	rs1417437	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	1p31.1	LRRC7	rs1417437-?	0.65	9E-6	(CL_CLP)	1.25	[1.37-1.14]	Illumina [NR]	N
1120	chr1	70154440	70154441	rs1417437	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	1p31.1	LRRC7	rs1417437-?	0.64	4E-6	(CLP)	1.3	[1.47-1.16]	Illumina [NR]	N
1120	chr1	70207078	70207079	rs10889850	24348519	Namjou B	2013-12-03	Front Genet	EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.	Body mass index	up to 2,860 European ancestry children	NA	1p31.1	LRRC7	rs10889850-?	NR	2E-6		4.78	[NR] z score decrease	Affymetrix, Illumina [up to 583824] (imputed)	N
1121	chr1	70335681	70335682	rs2226284	22322875	Kim SJ	2012-02-09	Circ J	Genetic association of short sleep duration with hypertension incidence--a 6-year follow-up in the Korean genome and epidemiology study.	Hypertension risk in short sleep duration	4,965 Korean ancestry individuals	NA	1p31.1	LRRC7	rs2226284-?	NR	3E-8	SNP+sleep	5.91	[3.15-11.11]	Affymetrix [334750]	N
1121	chr1	70355980	70355981	rs12037173	21784300	Mick E	2011-07-13	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of the child behavior checklist dysregulation profile.	Attention deficit hyperactivity disorder	341 ADHD case offspring from 339 trios	NA	1p31.1	LRRC7	rs12037173-?	NR	4E-6				Illumina [835136]	N
1122	chr1	70404539	70404540	rs1023008	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.1	LRRC7	rs1023008-T	0.481	6E-6	(Light activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1125	chr1	70887098	70887099	rs672203	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)	64 Japanese ancestry cases, 27 Japanese ancestry controls	NA	1p31.1	CTH	rs672203-A	0.52	2E-6	(Dominant)	5.33	[2.59-11.0]	Illumina [555600]	N
1126	chr1	70921172	70921173	rs10458561	20921969	Aberg K	2010-10-05	Pharmacogenomics J	Genome-wide association study of antipsychotic-induced QTc interval prolongation.	Antipsychotic-induced QTc interval prolongation	738 European, African American, Hispanic, and other ancestry Schizophrenia cases	NA	1p31.1	intergenic	rs10458561-?	NR	4E-7	(Risperidone)			Affymetrix [492000]	N
1126	chr1	70995561	70995562	rs2651244	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p31.1	NR	rs2651244-G	0.61	2E-6	(EA)	1.063159		Affymetrix, Illumina [~ 9000000] (imputed)	N
1126	chr1	70995561	70995562	rs2651244	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1p31.1	intergenic	rs2651244-G	0.599	2E-8		1.015	[0.986-1.044]	Affymetrix, Illumina [1230000] (imputed)	N
1127	chr1	71073920	71073921	rs1932064	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	1p31.1	Intergenic	rs1932064-T	0.7	6E-6	(Dominant model)	1.62	[1.05-2.51]	Illumina [508761]	N
1130	chr1	71443149	71443150	rs909848	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.1	NR	rs909848-C	0.60707254318789	7E-6	(IGP27)	0.1434	[0.081-0.206] unit increase	Illumina [~ 2500000] (imputed)	N
1130	chr1	71458857	71458858	rs1883460	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	1p31.1	PTGER3, ZRANB2	rs1883460-T	0.39	2E-6	(ALL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
1134	chr1	72071128	72071129	rs10493485	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	1p31.1	NEGR1	rs10493485-?	0.29	2E-6	(tPA)			Affymetrix [70897]	N
1135	chr1	72134584	72134585	rs7531932	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p31.1	NR	rs7531932-A	NR	4E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1136	chr1	72274472	72274473	rs12141391	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	1p31.1	NEGR1	rs12141391-A	0.02	7E-6				Illumina [502033]	N
1139	chr1	72635995	72635996	rs12134600	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	1p31.1	intergenic	rs12134600-A	0.116	6E-8		0.038	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1140	chr1	72751184	72751185	rs3101336	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	NEGR1	rs3101336-C	0.614	2E-16	(EA, men)	0.035	[0.026-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1140	chr1	72751184	72751185	rs3101336	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	NEGR1	rs3101336-C	0.613	3E-26	(EA)	0.033	[0.027-0.039] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1140	chr1	72751184	72751185	rs3101336	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	NEGR1	rs3101336-C	0.611	9E-17	(EA, women)	0.033	[0.026-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1140	chr1	72751184	72751185	rs3101336	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	NEGR1	rs3101336-C	0.611	6E-26		0.032	[0.026-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1140	chr1	72751184	72751185	rs3101336	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1p31.1	NEGR1	rs3101336-T	0.4	5E-13		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1140	chr1	72751184	72751185	rs3101336	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	1p31.1	NEGR1	rs3101336-C	0.60	2E-8		1.21	[1.13-1.29]	Affymetrix [~ 2000000] (imputed)	N
1140	chr1	72751184	72751185	rs3101336	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1p31.1	NEGR1	rs3101336-C	0.61	1E-13	(Obesity class II)	1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1140	chr1	72765115	72765116	rs2568958	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1p31.1	NEGR1	rs2568958-A	0.61	4E-16	(Overweight)	1.06	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1140	chr1	72765115	72765116	rs2568958	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	1p31.1	NEGR1	rs2568958-A	0.6	2E-14		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1140	chr1	72765115	72765116	rs2568958	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	1p31.1	NEGR1	rs2568958-A	0.58	2E-8		3.37	[2.19-4.55] percentage SD increase	Illumina [305846]	N
1140	chr1	72765115	72765116	rs2568958	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	1p31.1	NEGR1	rs2568958-A	0.58	1E-11		3.77	[2.67-4.87] % SD increase	Illumina [305846]	N
1140	chr1	72812439	72812440	rs2815752	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	1p31.1	NEGR1	rs2815752-A	0.61	2E-22		0.13	[0.09-0.17] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1140	chr1	72812439	72812440	rs2815752	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	1p31.1	NEGR1	rs2815752-A	0.62	6E-8		0.1	[0.04-0.16] kg/m2 increase	Affymetrix, Illumina [2399588] (imputed)	N
1140	chr1	72823712	72823713	rs990871	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p31.1	NEGR1	rs990871-T	0.61	4E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1140	chr1	72837238	72837239	rs7531118	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1p31.1	NEGR1	rs7531118-C	0.56	2E-17	(Obesity class I)	1.08	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1140	chr1	72838405	72838406	rs10789336	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	1p31.1	NEGR1	rs10789336-A	0.62	1E-6		0.042	[0.024-0.060] unit increase	Affymetrix, Illumina [557887] (imputed)	N
1140	chr1	72838528	72838529	rs1993709	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	1p31.1	NEGR1	rs1993709-G	0.81	5E-13		1.38	[1.26-1.50]	Affymetrix [~ 2000000] (imputed)	N
1144	chr1	73278614	73278615	rs35998080	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p31.1	NR	rs35998080-T	NR	8E-11		1.07	[NR]	Illumina [7158791] (imputed)	N
1146	chr1	73635890	73635891	rs12755164	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p31.1	NR	rs12755164-A	NR	4E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1147	chr1	73768365	73768366	rs12129573	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	1p31.1	LRRIQ3	rs12129573-A	0.358	2E-12		1.078	[1.056-1.101]	Affymetrix, Illumina [9005918] (imputed)	N
1147	chr1	73789323	73789324	rs10890032	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p31.1	NR	rs10890032-T	NR	7E-11		1.07	[NR]	Illumina [7158791] (imputed)	N
1148	chr1	73824908	73824909	rs10789369	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	1p31.1	intergenic	rs10789369-A	0.383	4E-10		1.095	[1.07-1.12]	Affymetrix, Illumina [9871789]	N
1149	chr1	73957814	73957815	rs61765555	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p31.1	NR	rs61765555-C	NR	9E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1149	chr1	74054059	74054060	rs2341260	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	1p31.1	LRRIQ3	rs2341260-T	NR	4E-6	(Continous Variable)	0.05	[0.03-0.07] ug/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1150	chr1	74082374	74082375	rs6424555	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p31.1	NR	rs6424555-T	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1150	chr1	74083034	74083035	rs2341263	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	1p31.1	LRRIQ3	rs2341263-C		3E-6		0.04	[0.02-0.06] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1152	chr1	74339166	74339167	rs11210359	21057379	Curtis D	2010-11-04	Psychiatr Genet	Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.	Bipolar disorder and schizophrenia	506 European ancestry bipolar 1 disorder cases, 523 European ancestry schizophrenia cases, 505 European ancestry controls	NA	1p31.1	LRRIQ3	rs11210359-?	NR	8E-6				Affymetrix [302482]	N
1157	chr1	74991401	74991402	rs1514177	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1p31.1	TNNI3K	rs1514177-C	0.43	5E-9	(Obesity class I)	1.06	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1157	chr1	74991643	74991644	rs1514175	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	1p31.1	TNNI3K	rs1514175-A	0.43	3E-11		0.06	[0.042-0.078] unit increase	Affymetrix, Illumina [557887] (imputed)	N
1157	chr1	74991643	74991644	rs1514175	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	1p31.1	TNNI3K	rs1514175-A	0.43	8E-14		0.07	[0.03-0.11] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1157	chr1	74993062	74993063	rs1514174	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1p31.1	TNNI3K	rs1514174-C	0.44	1E-8	(Overweight)	1.04	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1157	chr1	74993062	74993063	rs1514174	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	1p31.1	TNNI3K	rs1514174-C	0.47	6E-6	(Pubertal growth, females)	0.08	[0.045-0.115] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1157	chr1	75002192	75002193	rs12566985	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	FPGT-TNNI3K	rs12566985-G	0.455	2E-15		0.024	[0.018-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1157	chr1	75002192	75002193	rs12566985	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	FPGT-TNNI3K	rs12566985-G	0.448	1E-7	(EA, men)	0.022	[0.014-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1157	chr1	75002192	75002193	rs12566985	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	FPGT-TNNI3K	rs12566985-G	0.446	3E-15	(EA)	0.024	[0.018-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1157	chr1	75002192	75002193	rs12566985	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	FPGT-TNNI3K	rs12566985-G	0.444	1E-11	(EA, women)	0.027	[0.019-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1157	chr1	75006719	75006720	rs7514705	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1p31.1	TNNI3K, TYW3	rs7514705-C	0.56	2E-16		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1158	chr1	75235316	75235317	rs3931020	22843503	Qi Q	2012-07-26	Hum Mol Genet	Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.	Resistin levels	3,248 European ancestry individuals	659 European ancestry individuals	1p31.1	TYW3, CRYZ	rs3931020-C	0.69	6E-12		0.05	[0.030-0.070] unit increase	Affymetrix, Illumina [2543887] (imputed)	N
1159	chr1	75298781	75298782	rs11161851	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p31.1	TYW3	rs11161851-T	0.57	7E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1163	chr1	75770624	75770625	rs1249675	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	1p31.1	SLC44A5	rs1249675-?	NR	7E-6				NR [~ 2000000]	N
1164	chr1	75913825	75913826	rs1857353	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Whole-brain volume (Alzheimer's disease interaction)	434 European ancestry mild cognitive impairment cases, 245 European ancestry Alzheimer's disease cases, 284 European ancestry controls	NA	1p31.1	SLC44A5	rs1857353-?	NR	2E-6		0.016	[NR] unit decrease	Illumina [478011]	N
1165	chr1	76106674	76106675	rs211718	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	1p31.1	ACADM	rs211718-T	0.304	2E-71	(SM-5 + 17 other traits)	0.16	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1165	chr1	76106674	76106675	rs211718	20037589	Illig T	2009-12-27	Nat Genet	A genome-wide perspective of genetic variation in human metabolism.	Metabolite levels	1,029 European ancestry individuals	1,202 European ancestry individuals	1p31.1	ACADM	rs211718-C	0.31	1E-63	(C12/C10)	14.6	[NR] % variance	Affymetrix [517480]	N
1165	chr1	76135945	76135946	rs7552404	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	1p31.1	ACADM	rs7552404-A	0.687	4E-35	(Decenoylcarnitine)	0.0817	[0.069-0.095] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1165	chr1	76135945	76135946	rs7552404	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	1p31.1	ACADM	rs7552404-A	0.6861	3E-34	(Decanoylcarnitine)	0.1331	[0.11-0.15] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1165	chr1	76135945	76135946	rs7552404	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	1p31.1	ACADM	rs7552404-A	0.6836	2E-49	(Octanoylcarnitine)	0.1411	[0.12-0.16] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1165	chr1	76135945	76135946	rs7552404	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p31.1	ACADM	rs7552404-A	0.7	3E-43	(decanoylcarnitine)	0.056	[0.048-0.064] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1165	chr1	76135945	76135946	rs7552404	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p31.1	ACADM	rs7552404-A	0.7	1E-77	(octanoylcarnitine)	0.075	[0.067-0.083] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1166	chr1	76161888	76161889	rs4949874	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	1p31.1	ACADM	rs4949874-T	0.7	2E-172	(acetylcarnitine/hexanoylcarnitine)	0.073	[0.067-0.079] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1166	chr1	76216329	76216330	rs11161521	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p31.1	ACADM	rs11161521-T	0.7	6E-100	(hexanoylcarnitine)	0.07	[0.064-0.076] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1166	chr1	76216329	76216330	rs11161521	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p31.1	ACADM	rs11161521-T	0.7	1E-63	(cis-4-decenoyl carnitine)	0.061	[0.053-0.069] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1166	chr1	76275099	76275100	rs1144333	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	1p31.1	MSH4	rs1144333-G	0.096	4E-6	(HRTSE)	1.32	[0.75-1.89] unit decrease	Illumina [799713]	N
1168	chr1	76463071	76463072	rs12095069	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	1p31.1	ASB17	rs12095069-T	0.107	9E-7	(HRTSE)	1.36	[0.81-1.91] unit decrease	Illumina [799713]	N
1168	chr1	76477206	76477207	rs12122440	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	1p31.1	ST6	rs12122440-C	0.16	2E-6	(Single Height)	0.08	[0.049-0.111] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1168	chr1	76484013	76484014	rs12753569	20691247	Verweij KJ	2010-08-04	Biol Psychol	A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.	Personality dimensions	5,117 European ancestry individuals from 2567 families	NA	1p31.1	intergenic	rs12753569-G	0.49	8E-6	(Persistence)	0.1	[NR] unit decrease	Affymetrix, Illumina [1252387] (imputed)	N
1169	chr1	76599095	76599096	rs289698	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	1p31.1	ST6GALNAC3	rs289698-?	NR	4E-6			[NR]	Illumina [283437]	N
1170	chr1	76772327	76772328	rs10873876	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	1p31.1	SIAT7C	rs10873876-T	0.15	4E-6		1.55	[1.20-1.80]	Affymetrix [307944]	N
1171	chr1	76839535	76839536	rs12144344	24740207	Moy KA	2014-04-16	Am J Clin Nutr	Genome-wide association study of circulating vitamin D-binding protein.	Serum vitamin D-binding protein levels	1,380 European ancestry males	NA	1p31.1	ST6GALNAC3	rs12144344-T	0.44	6E-7		396.39	[239.18-553.60] nmol/L increase	Illumina [591610]	N
1171	chr1	76899463	76899464	rs4949718	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (aspartate transaminase)	484 Korean ancestry children	NA	1p31.1	ST6GALNAC3	rs4949718-A	0.402	1E-6		0.026	[0.016-0.036] unit increase	Illumina [747076]	N
1171	chr1	76899463	76899464	rs4949718	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	1p31.1	ST6GALNAC3	rs4949718-A	0.402	2E-7		0.053	[0.033-0.073] unit increase	Illumina [747076]	N
1173	chr1	77126372	77126373	rs551585	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	1p31.1	ST6GALNAC5	rs551585-?		3E-7				Illumina [859311]	N
1173	chr1	77148418	77148419	rs17099448	25827505	Swaminathan S	2015-03-14	J Affect Disord	Characteristics of Bipolar I patients grouped by externalizing disorders.	Bipolar disorder	472 non-externalizing cases, 796 externalizing cases	436 non-externalizing European ancestry cases, 801 externalizing European ancestry cases	1p31.1	ST6GALNAC3	rs17099448-?		3E-6	(externalizing vs. non-externalizing)	2.1584287	[NR]	Affymetrix [677171]	N
1179	chr1	77945634	77945635	rs6695572	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	AK5	rs6695572-A	0.188	7E-6	(EA)	0.022	[0.012-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1179	chr1	77945634	77945635	rs6695572	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	AK5	rs6695572-A	0.188	7E-6		0.022	[0.012-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1180	chr1	78048330	78048331	rs17381664	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1p31.1	ZZZ3	rs17381664-C	0.39	3E-8	(Obesity II)	1.09	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1183	chr1	78446760	78446761	rs12401738	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	FUBP1	rs12401738-A	0.355	6E-10	(EA, women)	0.026	[0.018-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1183	chr1	78446760	78446761	rs12401738	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	FUBP1	rs12401738-A	0.352	1E-10	(EA)	0.021	[0.015-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1183	chr1	78446760	78446761	rs12401738	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	FUBP1	rs12401738-A	0.347	2E-10		0.02	[0.014-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1184	chr1	78623625	78623626	rs17391694	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p31.1	NR	rs17391694-A	0.88	3E-9	(EA)	1.1264268		Affymetrix, Illumina [~ 9000000] (imputed)	N
1184	chr1	78623625	78623626	rs17391694	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p31.1	GIPC2	rs17391694-T	0.123	4E-16		0.043	[0.033-0.053] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1184	chr1	78623625	78623626	rs17391694	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	1p31.1	intergenic	rs17391694-C	0.889	3E-9		1.134	[1.077-1.194]	Affymetrix, Illumina [1230000] (imputed)	N
1184	chr1	78623625	78623626	rs17391694	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p31.1	GIPC2	rs17391694-T	0.12	2E-11		0.042	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1186	chr1	78819944	78819945	rs2352039	26083657	Stafford-Smith M	2015-06-17	Kidney Int	Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.	Acute kidney injury in coronary artery bypass surgery (creatinine rise)	873 European ancestry cases	380 European ancestry cases	1p31.1	MGC27382	rs2352039-A	0.156	2E-6		8.9	[5.2-12.6] unit increase	Illumina [530716] (imputed)	N
1186	chr1	78887207	78887208	rs648425	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	1p31.1	PTGFR, MGC27382	rs648425-T	0.02	8E-7	(drinks/week)	0.317	[0.082-0.552] unit decrease	Affymetrix [2500000] (imputed)	N
1187	chr1	78987301	78987302	rs672561	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.1	NR	rs672561-C	0.257740490431687	9E-6	(IGP8)	0.1677	[0.094-0.242] unit increase	Illumina [~ 2500000] (imputed)	N
1188	chr1	79093817	79093818	rs273259	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	1p31.1	IFI44L	rs273259-A	0.702	6E-12		1.41	[1.28-1.55]	Illumina [8129524] (imputed)	N
1188	chr1	79093817	79093818	rs273259	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures	929 European ancestry MMR vaccine-related febrile seizures cases, 1,070 European ancestry MMR vaccine-unrelated febrile seizures cases, 4,118 European ancestry controls	Up to 408 European ancestry MMR vaccine-related febrile seizures cases, Up to 1,034 European ancestry MMR vaccine-unrelated febrile seizures cases, Up to 1,645 European ancestry controls	1p31.1	IFI44L	rs273259-A	0.694	1E-9	(MMR-related vs MMR-unrelated)	1.42	[1.27-1.59]	Illumina [up to 8129553] (imputed)	N
1189	chr1	79176867	79176868	rs4650376	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.1	NR	rs4650376-C	0.126317908441268	2E-6	(IGP21)	0.2355	[0.14-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
1189	chr1	79227955	79227956	rs1937020	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	1p31.1	intergenic	rs1937020-T	0.681	4E-6		0.041	[0.023-0.059] unit decrease	Illumina [6150213] (imputed)	N
1189	chr1	79238014	79238015	rs4650608	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	1p31.1	IFI44L	rs4650608-?		8E-9	(SCZ or BP vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
1189	chr1	79238014	79238015	rs4650608	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	1p31.1	IFI44L, IFI44	rs4650608-T	NR	1E-6	(5 degree of freedom test)	1.06	[1.03-1.09]	NR [1252901] (imputed)	N
1189	chr1	79238014	79238015	rs4650608	22182935	Chen DT	2011-12-20	Mol Psychiatry	Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.	Bipolar disorder	5,568 European ancestry cases, 7,187 European ancestry controls, 1,000 Taiwanese ancestry cases, 1,000 Taiwanese ancestry controls	1,115 European ancestry cases, 2,728 European ancestry controls	1p31.1	PTGFR	rs4650608-T	NR	8E-9				Affymetrix, Illumina [748555]	N
1189	chr1	79254761	79254762	rs12730292	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	1p31.1	intergenic	rs12730292-C	NR	5E-6		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
1189	chr1	79263804	79263805	rs10873998	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	1p31.1	ELTD1	rs10873998-T		4E-6	(Modelling analysis)	1.06	[1.03-1.09]	NR [1252901] (imputed)	N
1191	chr1	79509108	79509109	rs6687262	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.1	NR	rs6687262-C	0.553310385988398	4E-7	(IGP37)	0.1576	[0.097-0.219] unit decrease	Illumina [~ 2500000] (imputed)	N
1191	chr1	79509108	79509109	rs6687262	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.1	NR	rs6687262-C	0.553040158270174	5E-7	(IGP38)	0.1567	[0.096-0.218] unit decrease	Illumina [~ 2500000] (imputed)	N
1191	chr1	79509108	79509109	rs6687262	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p31.1	NR	rs6687262-C	0.552969396260018	2E-6	(IGP31)	0.1461	[0.085-0.207] unit decrease	Illumina [~ 2500000] (imputed)	N
1195	chr1	80000647	80000648	rs3000140	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.1	ADH5P2	rs3000140-A	0.027	2E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1196	chr1	80134122	80134123	rs7533906	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	1p31.1	FAM69A	rs7533906-?	NR	4E-6		1.2982	[NR]	Affymetrix [722112]	N
1197	chr1	80243000	80243001	rs12024204	21151130	Painter JN	2010-12-12	Nat Genet	Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.	Endometriosis	3,194 European ancestry cases, 7,060 European ancestry controls	2,392 European ancestry cases, 2,271 European ancestry controls	1p31.1	intergenic	rs12024204-G	0.52	6E-6		1.22	[1.07-1.18]	Illumina [504723]	N
1198	chr1	80477879	80477880	rs10493631	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.1	HMGB1P18	rs10493631-G	0.306	5E-6	(Sleep duration )	0.04	[NR] min/d increase	Illumina [899892]	N
1200	chr1	80734580	80734581	rs11162963	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to event)	16,995 European ancestry individuals	NA	1p31.1	ELTD1	rs11162963-T	0.63	4E-6		1.09	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1201	chr1	80839277	80839278	rs1937787	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	1p31.1	ELTD1	rs1937787-T	0.84	7E-7		0.27	[0.17-0.37] unit decrease	Affymetrix, Illumina [up to 2600000] (imputed)	N
1202	chr1	80911113	80911114	rs12118390	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	1p31.1	NR	rs12118390-?	0.022	3E-7		2.253	[1.658-3.06] unit increase	Illumina [563945]	N
1202	chr1	80974828	80974829	rs7539892	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	1p31.1	ELTD1, LPHN2	rs7539892-G	0.93	9E-6		0.096	[0.053-0.139] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1211	chr1	82074851	82074852	rs11809789	22085899	Chen G	2011-11-16	Eur J Hum Genet	UGT1A1 is a major locus influencing bilirubin levels in African Americans.	Bilirubin levels	619 African American individuals	NA	1p31.1	RP5-837I24.4	rs11809789-A	0.014	6E-6		0.396	[0.226-0.565] unit increase	Affymetrix [808465]	N
1212	chr1	82247247	82247248	rs11163372	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	1p31.1	LPHN2	rs11163372-T	0.188	3E-6	(Novelty seeking)	0.19	unit increase	Affymetrix, Illumina [1252222] (imputed)	N
1213	chr1	82398543	82398544	rs6681544	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	1p31.1	LPHN2	rs6681544-C		6E-6		0.04	[0.03-0.06] unit increase	Affymetrix [~ 2500000] (imputed)	N
1216	chr1	82765051	82765052	rs1770678	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.1	LPHN2	rs170678-G	0.07	7E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1218	chr1	83054798	83054799	rs10874322	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	1p31.1	TTLL7	rs10874322-?	NR	2E-6				Affymetrix, Illumina [~ 1300000]	N
1219	chr1	83220433	83220434	rs17498581	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	1p31.1	LPHN2, TTLL7	rs17498581-T	0.1	9E-6		0.024	[0.012-0.036] unit increase	Affymetrix, Illumina [2378986] (imputed)	N
1220	chr1	83269969	83269970	rs480745	25599974	Zhang H	2015-01-19	Genet Epidemiol	A Genome-Wide Association Study of Early Spontaneous Preterm Delivery.	Spontaneous preterm birth (preterm birth)	916 pre-term birth neonates, 935 term birth neonates	243 pre-term birth neonates, 149 term birth neonates	1p31.1	LPHN2	rs480745-?	0.91	7E-7		1.75	[NR]	Affymetrix [797196]	N
1220	chr1	83311834	83311835	rs11163585	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	1p31.1	intergenic	rs11163585-?	0.24	9E-7	(perphenazine-HDL)			Affymetrix [492900]	N
1221	chr1	83489843	83489844	rs12742923	22628157	Levine AJ	2012-05-24	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults.	HIV-associated dementia	1,287 European ancestry HIV-infected male individuals	NA	1p31.1	intergenic	rs12742923-T	NR	8E-7	(NCI)			Illumina [~ 2500000] (imputed)	N
1223	chr1	83692382	83692383	rs2389438	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p31.1	TTLL7	rs2389438-C	0.815	2E-6	(EA, women)	0.028	[0.016-0.04] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1227	chr1	84232747	84232748	rs17129289	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.1	TTLL7	rs17129289-G	0.011	7E-6	(Sleep duration )	0.02	[NR] min/d increase	Illumina [899892]	N
1227	chr1	84254550	84254551	rs7552393	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	1p31.1	intergenic	rs7552393-?	NR	5E-7	(TNFA)			Affymetrix [70897]	N
1227	chr1	84254734	84254735	rs7539409	20061627	Heinzen EL	2009-09-11	J Alzheimers Dis	Genome-wide scan of copy number variation in late-onset Alzheimer's disease.	Alzheimer's disease	331 European ancestry cases, 368 European ancestry controls	NA	1p31.1	TTLL7	rs7539409-?	0.18	1E-6				Illumina [~ 550000]	N
1228	chr1	84314269	84314270	rs12723316	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p31.1	NR	rs12723316-G	NR	4E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1228	chr1	84387631	84387632	rs10465746	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.1	TTLL7	rs10465746-A	0.447	8E-6	(AST )	0.03	[NR] U/L increase	Illumina [899892]	N
1230	chr1	84622512	84622513	rs903263	23001122	Orr N	2012-09-23	Nat Genet	Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.	Breast cancer (male)	823 European ancestry cases, 2,795 European ancestry controls	438 European ancestry cases, 474 European ancestry controls	1p31.1	PRKACB	rs903263-?	NR	1E-6		1.27	[1.10-1.34]	Illumina [447760]	N
1231	chr1	84761347	84761348	rs1085093	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	1p31.1	GLTP	rs1085093-?	0.45	3E-6	(HDL-cholesterol)			Illumina [308011]	N
1231	chr1	84792972	84792973	rs315553	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p31.1	SAMD13	rs315553-C	0.173	4E-6	(Hip circumference change )	0.05	[NR] cm/y increase	Illumina [899892]	N
1232	chr1	84865229	84865230	rs12144715	22095909	Lange CM	2011-11-16	Hepatology	Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	707 European ancestry cases	NA	1p31.1	DNASE2B	rs12144715-T	NR	7E-6		0.636	[0.36-0.91] ug/L decrease	NR [NR]	N
1232	chr1	84868960	84868961	rs604708	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p22.3	NR	rs604708-C	0.970210567603748	8E-6	(IGP56)	0.4114	[0.23-0.59] unit decrease	Illumina [~ 2500000] (imputed)	N
1235	chr1	85226298	85226299	rs1750491	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	1p22.3	LPAR3	rs1750491-?	NR	2E-6	(LPAR3)			Illumina [518997]	N
1235	chr1	85268242	85268243	rs10782529	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity change in response to statin therapy	2,673 European ancestry cases, 2,656 European ancestry controls	NA	1p22.3	EDG7	rs10782529-C	0.36	4E-6	(percent change)	1.7	[1.11-2.29] percent increase	Illumina [796174]	N
1235	chr1	85290408	85290409	rs9728717	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	1p22.3	EDG7	rs9728717-T	NR	9E-6		0.14	[0.079-0.201] unit increase	Illumina [628922]	N
1235	chr1	85311191	85311192	rs1983853	18840781	Grant SF	2008-10-07	Diabetes	Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.	Type 1 diabetes	563 European ancestry cases, 1,146 European ancestry controls, 483 European ancestry trios	3,303 European ancestry cases, 4,673 European ancestry controls	1p22.3	EDG7	rs1983853-?	NR	2E-6		1.2	[1.11-1.29]	Illumina [up to 1000000]	N
1236	chr1	85350657	85350658	rs1886644	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	1p22.3	LPAR3	rs1886644-?		6E-6	(M)	22.9	[12.28-33.52] unit decrease	Illumina [693128]	N
1236	chr1	85356877	85356878	rs4243774	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking cessation	366 Bangladeshi ancestry former smoker males, 87 Bangladeshi ancestry former smoker females, 1,471 Bangladeshi ancestry current smoker males, 111 Bangladeshi ancestry current smoker females	NA	1p22.3	NR	rs4243774-?		2E-6				Illumina [1211988] (imputed)	N
1239	chr1	85772008	85772009	rs233100	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1p22.3	DDAH1	rs233100-G	NR	1E-6		1.08	[1.07-1.1]	Illumina [465434]	N
1239	chr1	85793745	85793746	rs2268667	25245031	Luneburg N	2014-09-21	Circ Cardiovasc Genet	Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.	Asymmetrical dimethylarginine levels	3,742 European ancestry individuals, 2,992 individuals	1,151  European ancestry individuals	1p22.3	DDAH1	rs2268667-A	0.343	4E-31		0.022	[0.018-0.026] unit increase	Affymetrix, Illumina [up to 2200000] (imputed)	N
1239	chr1	85797109	85797110	rs28489187	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	1p22.3	DDAH1	rs28489187-G	0.216	1E-20		0.259	[0.20-0.31] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1239	chr1	85797109	85797110	rs28489187	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	1p22.3	DDAH1	rs28489187-G	0.216	1E-40		0.37	[0.32-0.42] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1239	chr1	85845997	85845998	rs1884139	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	1p22.3	DDAH1	rs1884139-T	0.371	1E-18		0.18	[0.14-0.22] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1242	chr1	86125752	86125753	rs10493773	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	1p22.3	ZNHIT6, COL24A1	rs10493773-G	0.29	9E-6	(women)	0.082	[0.047-0.117] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1246	chr1	86707582	86707583	rs61800638	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	1p22.3	COL24A1	rs61800638-G	0.0438	2E-6		3.387534	[2.88-3.89]	Illumina [8809853] (imputed)	N
1248	chr1	86910263	86910264	rs2249296	25557950	Alonso A	2014-12-31	Gastroenterology	Identification of Risk Loci for Crohn's Disease Phenotypes Using a Genome-wide Association Study.	Crohn's disease-related phenotypes	up to 1,090 Southern European ancestry Crohn's disease cases	up to 1,296 Southern European ancestry Crohn's disease cases	1p22.3	CLCA2	rs2249296-C	0.78	1E-6	(Ileal involvement)	1.69	[1.35-2.13]	Illumina [539846]	N
1248	chr1	87003471	87003472	rs11161841	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	1p22.3	intergenic	rs11161841-A	0.114	7E-7		0.178	[0.3-0.44] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1249	chr1	87051200	87051201	rs1953652	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p22.3	NR	rs1953652-C	0.653295152202937	9E-6	(IGP57)	0.1426	[0.08-0.206] unit increase	Illumina [~ 2500000] (imputed)	N
1249	chr1	87051200	87051201	rs1953652	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p22.3	NR	rs1953652-C	0.653295152202937	5E-6	(IGP13)	0.147	[0.084-0.21] unit increase	Illumina [~ 2500000] (imputed)	N
1249	chr1	87051200	87051201	rs1953652	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p22.3	NR	rs1953652-C	0.653295152202937	4E-6	(IGP53)	0.1488	[0.086-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
1253	chr1	87613357	87613358	rs7553864	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	1p22.3	AK002179	rs7553864-?	0.39	3E-6	(SMKDU)	0.08	[NR] years increase	Illumina [~ 518000]	N
1254	chr1	87705030	87705031	rs6576878	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	1p22.3	LMO4	rs6576878-G	0.43	6E-6	(eosinophil count)	0.053	[0.03-0.07] unit increase	Illumina [2178645] (imputed)	N
1256	chr1	88064856	88064857	rs72953990	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Gait rhythm	2,946 individuals	NA	1p22.3	LMO4	rs72953990-A	0.14	2E-8	(Single support time)	0.0069	[0.0045-0.0093] unit increase	Illumina [6200000] (imputed)	N
1256	chr1	88064856	88064857	rs72953990	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Gait rhythm	2,946 individuals	NA	1p22.3	LMO4	rs72953990-A	0.14	2E-7		0.192	[0.12-0.26] unit decrease	Illumina [6200000] (imputed)	N
1257	chr1	88132379	88132380	rs983332	18615156	Liu C	2008-07-10	Mol Med	Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.	Response to TNF antagonist treatment	89 European ancestry cases	NA	1p22.3	LMO4	rs983332-A	0.21	5E-6				Illumina [283348]	N
1258	chr1	88226328	88226329	rs35214987	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	1p22.3	intergenic	rs35214987-G	0.4779	9E-7	(Phonemic Fluency)	3.3262	[2.02-4.63] unit increase	Affymetrix [> 371951] (imputed)	N
1261	chr1	88625635	88625636	rs12032672	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	1p22.2	PKN2	rs12032672-C	0.332	1E-6	(Red)	1.99	[1.50-2.62]	Affymetrix [~ 2500000] (imputed)	N
1261	chr1	88651770	88651771	rs10923038	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	1p22.2	PKN2	rs10923038-C	0.34	4E-7				Affymetrix [2500000] (imputed)	N
1262	chr1	88802011	88802012	rs2179965	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	1p22.2	intergenic	rs2179965-?	NR	1E-6	(F3)			Affymetrix [70897]	N
1264	chr1	89123442	89123443	rs6699417	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p22.2	PKN2	rs6699417-T	0.61	5E-9		0.021	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1265	chr1	89139040	89139041	rs7551732	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p22.2	PKN2	rs7551732-A	0.608	6E-20		0.027	[0.021-0.033] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1265	chr1	89146233	89146234	rs12145922	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	1p22.2	CCBL2, PKN2	rs12145922-A	0.61	4E-11		2.8	[2.20-3.40] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1266	chr1	89341407	89341408	rs17130643	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p22.2	GTF2B	rs17130643-A	0.0060	4E-6	(sICAM-1 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
1271	chr1	90022795	90022796	rs922107	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)	150 Japanese ancestry cases, 166 Japanese ancestry controls	NA	1p22.2	LRRC8B	rs922107-G	0.211	3E-6	(Recessive model)	1.788	[1.25-2.558]	Illumina [733202]	N
1271	chr1	90025518	90025519	rs922106	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)	218 Japanese ancestry cases, 364 Japanese controls	NA	1p22.2	LRRC8B	rs922106-T	0.202	9E-7	(Recessive model)	1.679	[1.277-2.207]	Illumina [733202]	N
1272	chr1	90112430	90112431	rs10754283	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	1p22.2	LRRC8C	rs10754283-?		5E-6				Illumina [859311]	N
1274	chr1	90343950	90343951	rs12091709	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	1p22.2	LRRC8D	rs12091709-?	NR	3E-6		0.1154	[0.067-0.164] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
1275	chr1	90539763	90539764	rs2813746	20197096	Stein JL	2010-03-01	Neuroimage	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.	Brain structure (hippocampal volume)	162 European ancestry Alzheimer's disease cases, 343 European ancestry amnestic mild cognitive impairment cases, 193 European ancestry healthy elderly controls	NA	1p22.2	ZNF326	rs2813746-C	0.46	2E-6		148.1	[NR] unit increase	Illumina [546314]	N
1278	chr1	90875887	90875888	rs2136093	20360315	Uher R	2010-04-01	Am J Psychiatry	Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.	Response to antidepressants	706 European ancestry individuals	NA	1p22.2	intergenic	rs2136093-?	0.31	4E-7	(whole sample)	8.3	[NR] unit decrease	Illumina [539391]	N
1278	chr1	90943906	90943907	rs2390582	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Coronary artery calcification	Up to 678 individuals	NA	1p22.2	intergenic	rs2390582-?	NR	1E-6				Affymetrix [70897]	N
1281	chr1	91252862	91252863	rs10922924	25383866	Kirkpatrick RM	2014-11-10	PLoS One	Results of a "GWAS Plus:" General Cognitive Ability Is Substantially Heritable and Massively Polygenic.	General cognitive ability	7,100 European ancestry individuals	NA	1p22.2	intergenic	rs10922924-?	NR	1E-6				Illumina [2546647] (imputed)	N
1281	chr1	91288129	91288130	rs3843306	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	1p22.2	intergenic	rs3843306-?	NR	5E-6	(FEV1 decline in asthmatics)	0.1763	[0.10-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
1283	chr1	91569688	91569689	rs164898	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	1p22.2	ZNF644	rs164898-?	0.27	6E-6	(WHR)			Illumina [308011]	N
1287	chr1	92077096	92077097	rs1192415	21307088	Khor CC	2011-02-09	Hum Mol Genet	Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.	Optic disc area	2,132 Indian ancestry individuals, 2,313 Malay ancestry individuals	9,326 European ancestry individuals	1p22.1	CDC7, TGFBR3	rs1192415-G	NR	8E-17	(Asian)	0.0959	[NR] mm2 increase	Illumina [551808]	N
1287	chr1	92077096	92077097	rs1192415	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Optic disc parameters	7,360 European ancestry individuals	4,455 European ancestry individuals	1p22.1	TGFBR3, CDC7	rs1192415-G	0.18	3E-28		0.06	[0.05-0.07] mm increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1287	chr1	92077096	92077097	rs1192415	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (disc area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	1p22.1	HSP90B3P	rs1192415-A	NR	3E-7		0.245	[0.14-0.35] unit decrease	Illumina [~ 2740000] (imputed)	N
1287	chr1	92077408	92077409	rs4658101	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	1p22.1	CDC7, TGFBR3	rs4658101-A	NR	1E-15		0.015	[0.011-0.019] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1287	chr1	92080058	92080059	rs1192419	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	1p22.1	CDC7, TGFBR3	rs1192419-A	0.18	8E-56		0.087	[0.075-0.099] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1287	chr1	92080058	92080059	rs1192419	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	1p22.1	CDC7, TGFBR3	rs1192419-A	0.18	4E-38	(EA)	0.085	[0.071-0.099] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1288	chr1	92169003	92169004	rs3767574	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	1p22.1	NR	rs3767574-?		2E-7	(PCB126)	0.28	[0.18-0.38] unit increase	Illumina [8736858] (imputed)	N
1288	chr1	92194321	92194322	rs11165354	23209189	Tabassum R	2012-12-03	Diabetes	Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.	Type 2 diabetes	1,101 Indo-European ancestry cases, 1,027 Indo-European ancestry controls	3,607 Indo-European ancestry cases, 2,924 Indo-European ancestry controls, 1,184 Dravidian ancestry cases, 1,061 Dravidian ancestry controls, 11,285 European ancestry cases, 11,285 European ancestry controls	1p22.1	TGFBR3	rs11165354-A	0.78	4E-6	(All South Asians)	1.17	[1.10-1.25]	Illumina [536420]	N
1288	chr1	92211019	92211020	rs17131547	19249006	Xiong DH	2009-02-25	Am J Hum Genet	Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.	Bone mineral density	1,000 European ancestry individuals	4,925 European ancestry individuals, 350 Chinese ancestry hip fracture cases, 350 Chinese ancestry hip fracture controls, 2,955 Chinese ancestry individuals, 908 West African ancestry males	1p22.1	TGFBR3	rs17131547-?		1E-6	(spine BMD)	0.4974	unit decrease	Affymetrix [379319]	N
1291	chr1	92554282	92554283	rs34856868	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p22.1	BTBD8	rs34856868-G	0.97	1E-8	(EA)	1.2156452		Affymetrix, Illumina [~ 9000000] (imputed)	N
1291	chr1	92554282	92554283	rs34856868	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p22.1	BTBD8	rs34856868-A	0.97	2E-6	(EA)	1.2122864		Affymetrix, Illumina [~ 9000000] (imputed)	N
1291	chr1	92554282	92554283	rs34856868	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p22.1	BTBD8	rs34856868-A	0.0060	2E-6	(BMD )	0.04	[NR] g/cm2 increase	Illumina [899892]	N
1294	chr1	92968311	92968312	rs11164654	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	1p22.1	GVI1, EVI5	rs11164654-C	0.79	2E-8		0.041	[0.027-0.055] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1294	chr1	92968311	92968312	rs11164654	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	1p22.1	GVI1, EVI5	rs11164654-C	0.79	1E-9		0.044	[0.03-0.058] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1294	chr1	93009437	93009438	rs7515577	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	1p22.1	EVI5	rs7515577-C	0.23	2E-8		0.037	[NR] unit decrease	NR [NR] (imputed)	N
1294	chr1	93009437	93009438	rs7515577	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	1p22.1	GVI1, EVI5	rs7515577-C	0.21	3E-8		1.18	[0.71-1.65] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1295	chr1	93148376	93148377	rs11810217	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1p22.1	EVI5	rs11810217-A	NR	6E-15		1.15	[1.13-1.16]	Illumina [465434]	N
1296	chr1	93303602	93303603	rs6604026	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	1p22.1	RPL5, EVI5	rs6604026-G	0.28	3E-6		1.17	[NR]	Illumina [302098]	N
1296	chr1	93303602	93303603	rs6604026	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	1p22.1	RPL5	rs6604026-C	0.29	8E-6		1.15	[1.08-1.22]	Affymetrix [334923]	N
1297	chr1	93323970	93323971	rs10874746	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p22.1	RPL5	rs10874746-T	0.37	7E-11		0.024	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1297	chr1	93401836	93401837	rs12745968	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	1p22.1	NR	rs12745968-?	NR	8E-7		1.2527	[NR]	Affymetrix [722112]	N
1297	chr1	93426166	93426167	rs945631	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	1p22.1	NR	rs945631-A	0.0302	3E-6	(Trans/trans-18:2, EA)	0.0057	[0.0033-0.0081] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1298	chr1	93521091	93521092	rs520885	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	1p22.1	MTF2	rs520885-?		5E-6				Illumina [5970354] (imputed)	N
1305	chr1	94462768	94462769	rs17110736	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	1p22.1	ABCA4	rs17110736-?	0.35	5E-6		2.08	[1.52-2.86]	Affymetrix [832357]	N
1306	chr1	94533013	94533014	rs1931575	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		1p22.1	ABCA4	rs1931575-T	NR	2E-6		0.0178	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1306	chr1	94553437	94553438	rs560426	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	1p22.1	NR	rs560426-G	NR	3E-12	(Meta-All, NSCL/P)	1.42	[1.243-1.623]	NR [497084]	N
1306	chr1	94553437	94553438	rs560426	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	1p22.1	IRF6	rs560426-G	NR	5E-10	(Meta-All, NSCLP)			NR [497084]	N
1306	chr1	94611299	94611300	rs2774920	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	1p22.1	ABCA4, ARHGAP29	rs2774920-G	0.085	1E-6		0.0513	[NR] % increase	Affymetrix, Illumina [2522393] (imputed)	N
1307	chr1	94674725	94674726	rs2274788	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	1p22.1	GCLM	rs2274788-C	0.25	1E-6	(EA-triglyceride response)	23.07	[13.8-32.34] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1307	chr1	94721659	94721660	rs12750249	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1p22.1	NR	rs12750249-C	0.256632781737194	4E-6	(IGP32)	0.165	[0.095-0.235] unit decrease	Illumina [~ 2500000] (imputed)	N
1310	chr1	95029580	95029581	rs1146509	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p21.3	NR	rs1146509-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
1310	chr1	95052475	95052476	rs2022309	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	1p21.3	F3	rs2022309-G	0.701	4E-8	(D-dimer)	0.244	[0.16-0.33] unit decrease	Illumina [NR] (imputed)	N
1310	chr1	95053352	95053353	rs12029080	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	1p21.3	F3	rs12029080-G	0.31	6E-52		10.4	[6.6-14.3] % increase	Affymetrix, Illumina [2522393] (imputed)	N
1310	chr1	95070040	95070041	rs7542900	22238593	Palmer ND	2012-01-04	PLoS One	A genome-wide association search for type 2 diabetes genes in African Americans.	Type 2 diabetes	965 African American cases, 1,029 African American controls	2,167 African American cases, 2,288 African American controls	1p21.3	SLC44A3, F3	rs7542900-C	0.56	6E-6		1.16	[1.09-1.25]	Affymetrix [832357]	N
1310	chr1	95081444	95081445	rs4474258	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU)	116 Japanese ancestry cases, 108 Japanese ancestry controls	NA	1p21.3	LOC100130235	rs4474258-A	0.43	5E-6	(Recessive)	1.89	[1.29-2.75]	Illumina [555600]	N
1312	chr1	95334186	95334187	rs17520351	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	1p21.3	SLC44A3	rs17520351-C		4E-6		0.2	[0.12-0.29] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1312	chr1	95387207	95387208	rs860873	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		1p21.3	CNN3	rs860873-A	NR	2E-14		0.1472	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1313	chr1	95485824	95485825	rs2391388	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		1p21.3	TMEM56, ALG14, RWDD3, CNN3	rs2391388-C	0.451	3E-11		0.178	[0.125-0.23] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1313	chr1	95515636	95515637	rs6675668	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		1p21.3	TMEM56, ALG14	rs6675668-T	0.49	2E-18		0.1651	[0.128-0.202] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1313	chr1	95549535	95549536	rs9437689	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	1p21.3	ALG14	rs9437689-?	NR	5E-8	(proportions)	0.7	[NR] % increase	Illumina [NR] (imputed)	N
1315	chr1	95692309	95692310	rs1414896	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (AST)	236 European ancestry cases	NA	1p21.3	intergenic	rs1414896-G	0.40	2E-6		0.26	[NR] unit increase	Illumina [324623]	N
1315	chr1	95697528	95697529	rs6671200	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		1p21.3	RWDD3	rs6671200-A	NR	2E-15		0.2461	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1316	chr1	95921696	95921697	rs2391672	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p21.3	NR	rs2391672-A	NR	2E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1318	chr1	96089730	96089731	rs1858111	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	1p21.3	RWDD3	rs1858111-G	0.567	4E-14		0.039	[0.029-0.05] unit decrease	Illumina [7428049] (imputed)	N
1318	chr1	96145967	96145968	rs6693882	19207018	Kim H	2009-02-01	Pharmacogenomics	Genome-wide association study of acute post-surgical pain in humans.	Pain	112 European ancestry individuals	NA	1p21.3	NR	rs6693882-?	NR	2E-6	(post-operative pain onset time)			Affymetrix [374975]	N
1319	chr1	96255064	96255065	rs9285624	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	1p21.3	RWDD3, TMEM56	rs9285624-C	0.09	9E-6	(DWRT-dr)	0.16	[0.089-0.231] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1319	chr1	96276197	96276198	rs10747472	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p21.3	FLJ31662	rs10747472-C	0.676	8E-6	(EA)	0.018	[0.01-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1319	chr1	96276197	96276198	rs10747472	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p21.3	FLJ31662	rs10747472-C	0.676	6E-6		0.018	[0.01-0.0252] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1322	chr1	96625496	96625497	rs1222043	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	1p21.3	NR	rs1222043-C	0.036	6E-6		3.41	[2.00-5.80]	Illumina [7261187] (imputed)	N
1322	chr1	96712520	96712521	rs498154	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p21.3	NR	rs498154-G	NR	9E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1324	chr1	96924096	96924097	rs11165643	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p21.3	PTBP2	rs11165643-T	0.583	6E-9	(EA, women)	0.023	[0.015-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1324	chr1	96924096	96924097	rs11165643	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p21.3	PTBP2	rs11165643-T	0.583	4E-7	(EA, men)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1324	chr1	96924096	96924097	rs11165643	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p21.3	PTBP2	rs11165643-T	0.583	2E-12	(EA)	0.022	[0.016-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1324	chr1	96924096	96924097	rs11165643	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p21.3	PTBP2	rs11165643-T	0.574	1E-13		0.022	[0.016-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1324	chr1	96943993	96943994	rs1973993	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	1p21.3	NR	rs1973993-C	0.63	1E-6		2.71	[1.61-3.81] percentage SD increase	Illumina [305846]	N
1324	chr1	96944796	96944797	rs1555543	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	1p21.3	PTBP2	rs1555543-C	0.59	4E-10		0.06	[0.02-0.10] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1325	chr1	97037082	97037083	rs10783050	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	1p21.3	NR	rs10783050-C	0.36	4E-6		2.6	[1.50-3.70] % SD increase	Illumina [305846]	N
1325	chr1	97113914	97113915	rs12071951	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	1p21.3	PTBP2	rs12071951-?	NR	5E-7		1.14	[NR]	Affymetrix [745006]	N
1326	chr1	97164342	97164343	rs7544736	19571811	Purcell SM	2009-07-01	Nature	Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.	Schizophrenia	3,322 European ancestry cases, 3,587 European ancestry controls	4,692 European ancestry cases, 15,493 European ancestry controls	1p21.3	PTBP2	rs7544736-G	0.18	6E-7		1.25		Affymetrix [739995]	N
1327	chr1	97375843	97375844	rs76620758	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	1p21.3	NR	rs76620758-?	NR	2E-6	(EA)	0.6556	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1328	chr1	97442228	97442229	rs3002271	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p21.3	DPYD	rs3002271-A	0.566	2E-6		0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1328	chr1	97442228	97442229	rs3002271	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p21.3	DPYD	rs3002271-A	0.565	4E-6	(EA)	0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1331	chr1	97819666	97819667	rs11165846	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	1p21.3	DPYD	rs11165846-?	NR	9E-6				Illumina [874956]	N
1331	chr1	97834524	97834525	rs76869799	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p21.3	NR	rs76869799-G	NR	1E-7		1.1764705	[NR]	Illumina [7158791] (imputed)	N
1335	chr1	98375447	98375448	rs11165924	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1p21.3	DPYD	rs11165924-A	0.69	2E-9		0.03	[0.018-0.042] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1336	chr1	98471701	98471702	rs77177281	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p21.3	NR	rs77177281-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1336	chr1	98501983	98501984	rs1702294	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	1p21.3	DPYD, MIR137	rs1702294-C	0.809	3E-19		1.1273957	[1.1-1.16]	Affymetrix, Illumina [9005918] (imputed)	N
1336	chr1	98502933	98502934	rs1625579	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	1p21.3	DPYD, MIR137	rs1625579-?	0.801	2E-11	(Modelling analysis)			NR [1252901] (imputed)	N
1336	chr1	98502933	98502934	rs1625579	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	1p21.3	MIR137	rs1625579-T	0.80	2E-11		1.12	[1.09-1.16]	Affymetrix, Illumina [1252901] (imputed)	N
1336	chr1	98512126	98512127	rs2660304	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p21.3	NR	rs2660304-T	NR	1E-17		1.12	[NR]	Illumina [7158791] (imputed)	N
1336	chr1	98552831	98552832	rs1198588	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	1p21.3	DPYD, MIR137	rs1198588-T	0.786	2E-12		1.1249	[1.09-1.16]	Affymetrix, Illumina [9871789]	N
1336	chr1	98552831	98552832	rs1198588	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	1p21.3	DPYD, has-mir-137	rs1198588-?	NR	5E-7		1.12	[NR]	Affymetrix [745006]	N
1336	chr1	98562259	98562260	rs1198575	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	1p21.3	intergenic	rs1198575-T	0.189	2E-6		0.026	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1337	chr1	98687690	98687691	rs12129731	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p21.3	NR	rs12129731-T	NR	6E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1341	chr1	99177252	99177253	rs9727115	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	1p21.3	SNX7	rs9727115-G	0.64	2E-7				Affymetrix, Illumina [~ 2500000] (imputed)	N
1342	chr1	99348835	99348836	rs11166135	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	1p21.3	LPPR5	rs11166135-?	NR	1E-6	(DMFS3)			Illumina [518997]	N
1343	chr1	99386292	99386293	rs1571500	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	1p21.3	SNX7, PAP2D	rs1571500-?	NR	2E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1343	chr1	99420367	99420368	rs309064	24903457	Kim YK	2014-06-05	BMC Med Genet	Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions.	Blood pressure (anthropometric measures interaction)	7,486 Korean ancestry individuals	4,544 East Asian ancestry individuals	1p21.3	PAP2D	rs309064-C	0.03	2E-6	(DBP, Height interaction)	0.19	[0.11-0.27] unit increase	Affymetrix [1573409] (imputed)	N
1343	chr1	99453286	99453287	rs10443196	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p21.3	LPPR5	rs10443196-G	0.273	9E-6	(LDL )	0.04	[NR] mg/dL increase	Illumina [899892]	N
1344	chr1	99524046	99524047	rs10747502	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p21.3	PAP2D	rs10747502-A	0.061	5E-7	(Light activity )	0.04	[NR] %awake time increase	Illumina [899892]	N
1344	chr1	99524046	99524047	rs10747502	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		1p21.3	LOC100129620	rs10747502-?	0.08	1E-9			[NR]	Affymetrix, Illumina [152234]	N
1344	chr1	99589378	99589379	rs303386	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin)	59 Japanese ancestry cases, 155 Japanese ancestry controls	NA	1p21.3	LOC100129620	rs303386-A	0.429	4E-6	(Dominant model)	2.238	[1.448-3.46]	Illumina [733202]	N
1344	chr1	99589378	99589379	rs303386	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)	106 Japanese ancestry cases, 187 Japanese ancestry controls	NA	1p21.3	LOC100129620	rs303386-A	0.444	4E-6	(Dominant)	1.766	[1.256-2.483]	Illumina [733202]	N
1346	chr1	99782956	99782957	rs12743824	23213074	Adams LA	2012-12-05	Hepatology	Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	126 European ancestry adolescent cases, 802 European ancestry adolescent controls	NA	1p21.2	LPPR4	rs12743824-C	0.441	5E-6		2.3	[-0.05200-4.65200]	Illumina [2078805] (imputed)	N
1348	chr1	100049784	100049785	rs7543130	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Aortic root size	12,612 European ancestry individuals	4,094 European ancestry individuals	1p21.2	PALMD	rs7543130-A	0.49	1E-7		0.03	[0.02-0.04] cm increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1349	chr1	100268990	100268991	rs6689305	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity (interaction)	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	1p21.2	FRRS1, AGL	rs6689305-?	0.19	9E-6				Illumina [565404]	N
1350	chr1	100335976	100335977	rs17121403	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	1p21.2	intergenic	rs17121403-?	NR	7E-6	(FEV1 decline in asthmatics)	0.8328	[0.47-1.20] unit decrease	Illumina [~ 2500000] (imputed)	N
1358	chr1	101331535	101331536	rs12048904	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1p21.2	VCAM1, EXTL2	rs12048904-A	NR	4E-8	(Conditioned on rs11581062)	1.09	[1.08-1.11]	Illumina [465434]	N
1358	chr1	101331535	101331536	rs12048904	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1p21.2	EXTL2	rs12048904-A	NR	4E-8		1.09	[1.08-1.11]	Illumina [465434]	N
1358	chr1	101407518	101407519	rs11581062	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1p21.2	SLC30A7, VCAM1	rs11581062-G	NR	3E-10		1.12	[1.1-1.13]	Illumina [465434]	N
1359	chr1	101466053	101466054	rs11583043	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p21.2	SLC30A, EDG1	rs11583043-A	0.2658	6E-8	(EA)	1.0797532	[1.05-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1359	chr1	101466053	101466054	rs11583043	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p21.2	EDG1, SLC30A	rs11583043-A	0.2658	2E-6	(EA)	1.0553302	[1.03-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1359	chr1	101540998	101540999	rs17450029	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	1p21.2	DPH5	rs17450029-T	0.23	3E-6	(Tri-Tetra/cyclic antidepressants)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1359	chr1	101551925	101551926	rs17410015	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	1p21.2	intergenic	rs17410015-?	0.063	2E-6	(perphenazine-triglycerides)			Affymetrix [492900]	N
1360	chr1	101621445	101621446	rs7534824	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	1p21.2	LOC101928334	rs7534824-A	0.967	9E-7	(Asian, 25 years or older)	2.304	[1.651-3.214]	Affymetrix, Illumina [NR] (imputed)	N
1362	chr1	101880004	101880005	rs2338971	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	1p21.2	HUSEYO	rs2338971-C	0.773	5E-10		1.32	[1.26-1.38]	Illumina [811597]	N
1362	chr1	101880004	101880005	rs2338971	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	1p21.2	HUSEYO	rs2338971-C	0.773	4E-10	(Sporadic)	1.35	[1.27-1.43]	Illumina [811597]	N
1362	chr1	101938476	101938477	rs1948368	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	1p21.2	NR	rs1948368-?	0.51	6E-6		1.15	[NR]	Affymetrix [1769948] (imputed)	N
1367	chr1	102577020	102577021	rs11578152	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1p21.1	OLFM3	rs11578152-G	0.44	5E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1368	chr1	102726398	102726399	rs17126268	24351856	Nanayakkara S	2013-12-18	J Occup Health	An integrative study of the genetic, social and environmental determinants of chronic kidney disease characterized by tubulointerstitial damages in the North Central Region of Sri Lanka.	Glomerular filtration rate	301 Sri Lankan Sinhalese ancestry cases, 276 Sri Lankan Sinhalese ancestry controls	NA	1p21.1	OLFM3	rs17126268-C	0.10	7E-7		2.78	[NR] unit increase	Illumina [543848]	N
1370	chr1	102959666	102959667	rs11164530	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	1p21.1	OLFM3, COL11A1	rs11164530-C	0.85	2E-6	(Women)	0.014369881	[0.0084-0.0203] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1371	chr1	103133908	103133909	rs10874639	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	1p21.1	COL11A1	rs10874639-?	0.12	3E-6	(Fibrinogen)			Illumina [496032]	N
1372	chr1	103203106	103203107	rs1376359	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1p21.1	NR	rs1376359-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
1373	chr1	103379917	103379918	rs3753841	22922875	Vithana EN	2012-08-26	Nat Genet	Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.	Glaucoma (primary angle closure)	1,281 East Asian ancestry cases, 1,987 East Asian ancestry controls, 337 South Indian ancestry cases, 2,538 South Indian ancestry controls, 236 South East Asian ancestry cases, 5,083 South East Asian ancestry controls	1,545 East Asian ancestry cases, 3,756 East Asian ancestry controls, 165 Saudi Arabian ancestry cases, 175 Saudi Arabian ancestry controls, 127 European ancestry cases, 4,703 European ancestry controls, 80 Indian ancestry cases, 309 Indian ancestry controls	1p21.1	COL11A1	rs3753841-G	NR	9E-10		1.2	[NR]	Illumina [493501]	N
1374	chr1	103459536	103459537	rs11809524	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	1p21.1	COL11A1	rs11809524-T	0.85	9E-6	(FNBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1378	chr1	104019630	104019631	rs7524694	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p21.1	intergenic	rs7524694-G	0.131	7E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
1383	chr1	104598940	104598941	rs3934285	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p21.1	FTLP17	rs3934285-A	0.214	2E-6	(Trunk fat mass )	0.03	[NR] kg increase	Illumina [899892]	N
1383	chr1	104598940	104598941	rs3934285	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p21.1	FTLP17	rs3934285-A	0.214	2E-6	(Fat mass )	0.03	[NR] kg increase	Illumina [899892]	N
1383	chr1	104598940	104598941	rs3934285	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p21.1	FTLP17	rs3934285-A	0.214	2E-6	(Fat mass )	0.03	[NR] % increase	Illumina [899892]	N
1384	chr1	104852737	104852738	rs10881542	22922875	Vithana EN	2012-08-26	Nat Genet	Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.	Glaucoma (primary angle closure)	1,281 East Asian ancestry cases, 1,987 East Asian ancestry controls, 337 South Indian ancestry cases, 2,538 South Indian ancestry controls, 236 South East Asian ancestry cases, 5,083 South East Asian ancestry controls	1,545 East Asian ancestry cases, 3,756 East Asian ancestry controls, 165 Saudi Arabian ancestry cases, 175 Saudi Arabian ancestry controls, 127 European ancestry cases, 4,703 European ancestry controls, 80 Indian ancestry cases, 309 Indian ancestry controls	1p21.1	NR	rs10881542-?	NR	2E-6		1.18	[NR]	Illumina [493501]	N
1396	chr1	106430286	106430287	rs11184708	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	1p21.1	CDK4PS, LOC727839	rs11184708-T	0.13	2E-6	(Hispanic, Smoking, ever/never)	0.03	[0.02-0.04] unit increase	Affymetrix [706791]	N
1398	chr1	106640942	106640943	rs12408810	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	1p21.1	PRMT6	rs12408810-C	0.87	9E-6		1.25	[1.13-1.38]	Affymetrix [~ 2000000] (imputed)	N
1400	chr1	106835942	106835943	rs1330225	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	1p21.1	PRMT6	rs1330225-C	0.01	7E-9	(MAP, during intervention)	5.16	[3.42-6.90] mmHg decrease	Affymetrix [2216774] (imputed)	N
1400	chr1	106835942	106835943	rs1330225	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	1p21.1	PRMT6	rs1330225-C	0.01	1E-8	(DBP, during intervention)	5.48	[3.60-7.36] mmHg decrease	Affymetrix [2216774] (imputed)	N
1403	chr1	107336300	107336301	rs12097821	22197933	Hu Z	2011-12-25	Nat Genet	A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.	Non-obstructive azoospermia	981 Han Chinese ancestry cases, 1,657 Han Chinese ancestry controls	1,946 Han Chinese ancestry cases, 4,077 Han Chinese ancestry controls	1p13.3	PRMT6	rs12097821-?	NR	6E-10		1.25	[1.17-1.34]	Affymetrix [587347]	N
1404	chr1	107430594	107430595	rs17440619	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	1p13.3	intergenic	rs17440619-?	NR	2E-6		2.79	[1.83-4.25]	Illumina [4196861] (imputed)	N
1404	chr1	107432575	107432576	rs12726652	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	1p13.3	intergenic	rs12726652-?	0.26	5E-7	(quetiapine)			Affymetrix [492900]	N
1404	chr1	107463642	107463643	rs12125971	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	1p13.3	PRMT6	rs12125971-?	NR	7E-6	(High intelligence)	6.93	[3.99-9.87] unit increase	Illumina [795637]	N
1405	chr1	107546374	107546375	rs17496332	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	1p13.3	PRMT6	rs17496332-A	0.67	2E-7	(Men)	0.027	[0.017-0.037] nmol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1405	chr1	107546374	107546375	rs17496332	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	1p13.3	PRMT6	rs17496332-A	0.67	1E-11	(Men + Women)	0.028	[0.020-0.036] nmol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1405	chr1	107577831	107577832	rs4118325	19754311	Le Clerc S	2009-09-15	J Infect Dis	Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).	AIDS	85 European ancestry cases, 2,049 European ancestry controls	NA	1p13.3	intergenic	rs4118325-G	0.81	6E-7		4.17	[2.17-8.33]	Illumina [291119]	N
1407	chr1	107830857	107830858	rs10494067	21079607	Wang K	2010-11-16	Mol Psychiatry	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	Anorexia nervosa	1,033 European ancestry cases, 3,733 European ancestry controls	NA	1p13.3	NTNG1	rs10494067-?	0.06	6E-6				Illumina [~ 598000]	N
1410	chr1	108188857	108188858	rs17019602	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	1p13.3	VAV3	rs17019602-G	0.19	8E-7	(EA)	1.19	[NR]	Illumina [> 1000000] (imputed)	N
1410	chr1	108188857	108188858	rs17019602	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	1p13.3	VAV3	rs17019602-G	0.19	7E-9		1.17	[NR]	Illumina [> 1000000] (imputed)	N
1411	chr1	108302921	108302922	rs12142335	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)	176 Japanese ancestry cases, 471 Japanese ancestry controls	NA	1p13.3	VAV3	rs12142335-A	0.004	8E-6	(Dominant model)	9.713	[3.175-29.71]	Illumina [733202]	N
1411	chr1	108322534	108322535	rs7521681	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	1p13.3	VAV3	rs7521681-A		7E-7		1.1491	[1.09-1.2]	Illumina [up to 4972397] (imputed)	N
1411	chr1	108343086	108343087	rs7537605	25429627	Oryoji D	2014-11-27	J Clin Endocrinol Metab	Identification of a Hashimoto thyroiditis susceptibility locus via a genome-wide comparison with Graves' disease.	Hashimoto thyroiditis versus Graves' disease	263 Japanese ancestry Hashimoto thyroiditis cases, 260 Japanese ancestry Graves' disease cases	181 Japanese ancestry Hashimoto thyroiditis cases, 286 Japanese ancestry Graves' disease cases	1p13.3	VAV3	rs7537605-?	0.277	4E-8		1.77	[1.44-2.17]	Illumina [546173]	N
1411	chr1	108356819	108356820	rs12126655	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Plasma thyroid-stimulating hormone levels	2,789 Korean ancestry individuals	829 Korean ancestry individuals	1p13.3	VAV3	rs12126655-G	0.35	2E-8		0.138	[0.089-0.187] uIU/L increase	Affymetrix [1418709] (imputed)	N
1411	chr1	108366015	108366016	rs4915077	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	1p13.3	VAV3	rs4915077-C	0.084	8E-10		1.302	[1.20-1.41]	Illumina [870065]	N
1414	chr1	108673404	108673405	rs2000260	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	1p13.3	SLC25A24	rs2000260-A	0.57	7E-7		1.32	[NR]	Illumina [1468075]	N
1419	chr1	109392836	109392837	rs1277203	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	261 Japanese ancestry cases, 262 Japanese ancestry controls	NA	1p13.3	AKNAD1	rs1277203-A	0.626	9E-6	(Recessive model)	1.615	[1.243-2.098]	Illumina [733202]	N
1419	chr1	109417678	109417679	rs7523050	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	1p13.3	AKNAD1, STXBP3, GPSM2, CLCC1	rs7523050-A	0.14	5E-6	(multivariate)			Illumina [319818]	N
1419	chr1	109417678	109417679	rs7523050	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	1p13.3	AKNAD1, STXBP3, GPSM2, CLCC1	rs7523050-A	0.14	4E-6	(univariate, lower trunk)			Illumina [319818]	N
1419	chr1	109417678	109417679	rs7523050	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	1p13.3	AKNAD1, STXBP3, GPSM2, CLCC1	rs7523050-A	0.14	1E-6	(univariate, leg)			Illumina [319818]	N
1422	chr1	109710506	109710507	rs61797053	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	1p13.3	KIAA1324	rs61797053-A	NR	2E-6	(WAP, Cases)	0.67	[0.4-0.94] unit increase	Illumina [7600000] (imputed)	N
1422	chr1	109807282	109807283	rs6657811	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	1p13.3	CELSR2, SORT1	rs6657811-T	0.12	2E-9		0.057	[0.039-0.075] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1422	chr1	109817191	109817192	rs7528419	22003152	Grallert H	2011-10-14	Eur Heart J	Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.	Lipoprotein-associated phospholipase A2 activity and mass	12,126 European ancestry individuals, 1,538 individuals	NA	1p13.3	CELSR2	rs7528419-A	0.79	1E-17	(Activity concentrations)	0.035	[0.027-0.043] unit increase	Affymetrix, Illumina [2661766] (imputed)	N
1422	chr1	109817589	109817590	rs12740374	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity and mass	6,851 European ancestry individuals	13,664 European ancestry individuals	1p13.3	SORT1	rs12740374-T	0.22	2E-22	(activity)	0.0344	[0.027-0.042] ng/ml decrease	Illumina [796174]	N
1422	chr1	109817589	109817590	rs12740374	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	1p13.3	CELSR2, PSRC1, SORT1	rs12740374-T	0.25	9E-29		0.1815	[0.15-0.21] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1422	chr1	109817589	109817590	rs12740374	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	1p13.3	CELSR2, PSRC1, SORT1	rs12740374-T	0.21	2E-42		0.23	[0.19-0.27] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1422	chr1	109817837	109817838	rs660240	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	1p13.3	CELSR2	rs660240-T	0.22	2E-22	(LDL)	0.17	[0.14-0.20] mmol/l decrease	Illumina [NR] (imputed)	N
1422	chr1	109817837	109817838	rs660240	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	1p13.3	CELSR2	rs660240-A	0.21	1E-26		0.04	[0.03-0.05] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1422	chr1	109818305	109818306	rs629301	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1p13.3	SORT1	rs629301-G	0.24	5E-241		0.167	[NR] unit decrease	NR [NR] (imputed)	N
1422	chr1	109818305	109818306	rs629301	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	1p13.3	SORT1	rs629301-G	0.24	2E-170		0.134	[NR] unit decrease	NR [NR] (imputed)	N
1422	chr1	109818305	109818306	rs629301	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	1p13.3	CELSR2, PSRC1, SORT1	rs629301-G	0.22	1E-170		5.65	[5.24-6.06] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1422	chr1	109818305	109818306	rs629301	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	1p13.3	CELSR2, PSRC1, SORT1	rs629301-G	0.22	6E-131		5.41	[4.94-5.88] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1422	chr1	109818529	109818530	rs646776	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	1p13.3	CELSR2, SORT1	rs646776-T	0.22	2E-91		0.146	[0.13-0.16] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1422	chr1	109818529	109818530	rs646776	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	1p13.3	CELSR2, SORT1	rs646776-T	0.22	2E-64		0.12	[0.11-0.13] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1422	chr1	109818529	109818530	rs646776	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	1p13.3	CELSR2, PSRC1, SORT1	rs646776-T	NR	6E-10		1.14	[1.09-1.19]	Illumina [574919]	N
1422	chr1	109818529	109818530	rs646776	21239051	Reilly MP	2011-01-14	Lancet	Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.	Coronary artery disease	1,808 European ancestry cases, 915 European ancestry controls	10,585 European ancestry cases, 6,468 European ancestry controls	1p13.3	SORT1	rs646776-T	0.79	8E-11		1.33	[1.22-1.44]	Affymetrix, Illumina [> 2400000] (imputed)	N
1422	chr1	109818529	109818530	rs646776	21087763	Carrasquillo MM	2010-12-10	Am J Hum Genet	Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.	Progranulin levels	518 European ancestry controls	459 European ancestry controls	1p13.3	CELSR2, PSRC1, SORT1	rs646776-G	0.21	2E-30		0.18	[0.16-0.20] ng/ml decrease	Illumina [313504]	N
1422	chr1	109818529	109818530	rs646776	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	1p13.3	CELSR2, PSRC1, SORT1	rs646776-C	0.19	4E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
1422	chr1	109818529	109818530	rs646776	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p13.3	CELSR2, PSRC1, SPRT1	rs646776-?	NR	4E-39	(APOB.assay, fasting)	5.251	[NR] unit decrease	Illumina [335603]	N
1422	chr1	109818529	109818530	rs646776	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p13.3	CELSR2, PSRC1, SPRT1	rs646776-?	NR	2E-53	(APOB.assay, whole)	5.205	[NR] unit decrease	Illumina [335603]	N
1422	chr1	109818529	109818530	rs646776	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p13.3	CELSR2, PSRC1, SPRT1	rs646776-?	NR	2E-27	(LDL.total, whole)	0.042	[NR] unit decrease	Illumina [335603]	N
1422	chr1	109818529	109818530	rs646776	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	1p13.3	CELSR2, PSRC1, SPRT1	rs646776-?	NR	2E-20	(LDL.total, fasting)	0.043	[NR] unit decrease	Illumina [335603]	N
1422	chr1	109818529	109818530	rs646776	19198609	Kathiresan S	2009-02-08	Nat Genet	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Myocardial infarction (early onset)	2,967 European ancestry cases, 3,075 European ancestry controls	9,746 European ancestry cases, 9,746 European ancestry controls	1p13.3	CELSR2, PSRC1, SORT1	rs646776-T	0.81	8E-12		1.19	[1.13-1.26]	Affymetrix [~ 2500000] (imputed)	N
1422	chr1	109818529	109818530	rs646776	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	1p13.3	CELSR2	rs646776-G	0.22	8E-23		0.16	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1422	chr1	109818529	109818530	rs646776	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	1p13.3	CELSR2	rs646776-G	0.22	9E-22		0.13	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1422	chr1	109818529	109818530	rs646776	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	LDL cholesterol	4,763 Northern Finnish founder individuals	NA	1p13.3	CELSR2, PSRC1, SORT1	rs646776-G	0.21	2E-12		0.16	[0.11-0.20] mmol/l decrease	Illumina [329091]	N
1422	chr1	109818529	109818530	rs646776	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	LDL cholesterol	2,758 European ancestry individuals	18,544 European ancestry individuals	1p13.3	PSRC1, CELSR2, SORT1	rs646776-C	0.24	3E-29		0.16	[0.14-0.18] percentage SD decrease	Affymetrix [389878]	N
1422	chr1	109819295	109819296	rs3902354	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Cholesterol, total	3,701 Mexican ancestry individuals	5,114 Mexican ancestry individuals, 903 Mexican ancestry individuals from 73 dyslipidemic families	1p13.3	CELSR2	rs3902354-A	NR	1E-8		0.15	[NR] unit increase	Illumina [1661241] (imputed)	N
1422	chr1	109821510	109821511	rs602633	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	1p13.3	SORT1	rs602633-T	NR	1E-8		1.1111	[1.08-1.15]	Illumina [575000] (imputed)	N
1422	chr1	109822165	109822166	rs599839	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	1p13.3	SORT1	rs599839-?		8E-17				Affymetrix, Illumina [up to 2500000] (imputed)	N
1422	chr1	109822165	109822166	rs599839	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	1p13.3	SORT1	rs599839-?		1E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1422	chr1	109822165	109822166	rs599839	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	1p13.3	CELSR2, PSRC1, SORT1	rs599839-G	0.06	2E-19	(LDL)	5.2254	[4.09-6.37] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1422	chr1	109822165	109822166	rs599839	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	1p13.3	SORT1	rs599839-A	0.78	3E-10		1.11	[1.08-1.15]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1422	chr1	109822165	109822166	rs599839	20442857	Suchindran S	2010-04-29	PLoS Genet	Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.	Lipoprotein-associated phospholipase A2 activity and mass	6,668 European ancestry individuals	NA	1p13.3	PSRC1	rs599839-G	0.22	3E-15	(activity)	5.5	[NR] nmol/ml/min decrease	Affymetrix [360811]	N
1422	chr1	109822165	109822166	rs599839	18262040	Sandhu MS	2008-02-09	Lancet	LDL-cholesterol concentrations: a genome-wide association study.	LDL cholesterol	11,685 European ancestry individuals	Up to 4,979 European ancestry individuals	1p13.3	CELSR2, PSRC1	rs599839-G	0.19	1E-33		0.16	[0.14-0.18] mmol/L decrease	Affymetrix, Illumina [up to 461986]	N
1422	chr1	109822165	109822166	rs599839	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	1p13.3	CELSR2, PSRC1, SORT1	rs599839-A	0.77	6E-33		5.48	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1422	chr1	109822165	109822166	rs599839	18179892	Wallace C	2008-01-10	Am J Hum Genet	Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.	LDL cholesterol	1,955 European ancestry hypertensive individuals	2,033 European ancestry individuals from 519 families, 1,461 European ancestry twins	1p13.3	PSRC1, CELSR2	rs599839-G	0.24	1E-7		0.95	[0.93-0.97] mMol/l increase	Affymetrix [400496]	N
1422	chr1	109822165	109822166	rs599839	17634449	Samani NJ	2007-07-18	N Engl J Med	Genomewide association analysis of coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	875 European ancestry cases, 1,644 European ancestry controls	1p13.3	PSRC1	rs599839-A	0.77	4E-9		1.29	[1.18-1.40]	Affymetrix [377857]	N
1424	chr1	109999837	109999838	rs1933182	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	1p13.3	AMIGO1, SORT1, ATXN7L2, SYPL2, CYB561D1, PSMA5	rs1933182-A	0.30	1E-7	(eGFRcrea)	0.01	[0.006-0.010] ml/min/1.73m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1424	chr1	110031187	110031188	rs12049330	20125088	Shi J	2010-02-02	Mol Psychiatry	Genome-wide association study of recurrent early-onset major depressive disorder.	Major depressive disorder	1,020 European ancestry cases, 1,636 European ancestry controls	NA	1p13.3	ATXN7L2, SYPL2, CYB561D1	rs12049330-G	0.14	6E-6		1.44		Affymetrix [671424]	N
1424	chr1	110042443	110042444	rs1043274	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p13.3	CYB561D1	rs1043274-A	0.026	9E-6	(TC )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1424	chr1	110082885	110082886	rs7550711	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		1p13.3	GPR61	rs7550711-T	NR	5E-6		0.2743	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1425	chr1	110119731	110119732	rs6537837	20125088	Shi J	2010-02-02	Mol Psychiatry	Genome-wide association study of recurrent early-onset major depressive disorder.	Major depressive disorder	1,020 European ancestry cases, 1,636 European ancestry controls	NA	1p13.3	GNAT2, GNAI3, AMPD2	rs6537837-T	0.17	1E-6		1.43		Affymetrix [671424]	N
1425	chr1	110147320	110147321	rs17024258	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1p13.3	GNAT2	rs17024258-T	0.04	9E-12	(Obesity I)	1.25	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1425	chr1	110154687	110154688	rs17024393	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p13.3	GNAT2	rs17024393-C	0.043	2E-13		0.061	[0.045-0.077] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1425	chr1	110154687	110154688	rs17024393	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p13.3	GNAT2	rs17024393-C	0.04	7E-14	(EA)	0.066	[0.049-0.083] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1425	chr1	110154687	110154688	rs17024393	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p13.3	GNAT2	rs17024393-C	0.04	2E-7	(EA, men)	0.061	[0.038-0.083] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1425	chr1	110154687	110154688	rs17024393	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p13.3	GNAT2	rs17024393-C	0.039	4E-10	(EA, women)	0.071	[0.049-0.094] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1426	chr1	110299690	110299691	rs11102001	25551457	Baumert J	2014-12-31	PLoS One	No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects.	Fibrinogen levels (smoking status, alcohol consumption or body mass index interaction)	up to 80,607 European ancestry individuals	NA	1p13.3	EPS8L3	rs11102001-A	0.59	7E-7	(Alcohol consumption)	0.057	[0.033-0.081] g/L increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1426	chr1	110352476	110352477	rs10494112	21623375	Albagha OM	2011-05-29	Nat Genet	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.	Paget's disease	741 European ancestry cases, 2,699 European ancestry controls	1,474 European ancestry cases, 1,671 European ancestry controls	1p13.3	CSF1, EPS8LS	rs10494112-G	0.20	7E-35		1.72	[1.57-1.87]	Illumina [2487078] (imputed)	N
1427	chr1	110366082	110366083	rs484959	20436471	Albagha OM	2010-05-02	Nat Genet	Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.	Paget's disease	692 European ancestry cases, 1,001 European ancestry controls	256 European ancestry cases, 488 European ancestry controls	1p13.3	CSF1	rs484959-?	0.51	5E-24		1.82	[1.61-2.04]	Illumina [294663]	N
1427	chr1	110405270	110405271	rs6537883	23834954	Kobayashi D	2013-07-08	Mol Pain	Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.	Sensory disturbances after bilateral sagittal split ramus osteotomy	Up to 105 individuals	Up to 200 individuals	1p13.3	CSF1	rs6537883-?	NR	3E-6	(Hypoesthesia, Dominant)			Illumina [243229]	N
1427	chr1	110439479	110439480	rs333960	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p13.3	CSF1	rs333960-G	0.144	2E-7	(QUICKl)	0.04	[NR] unit increase	Illumina [899892]	N
1428	chr1	110618729	110618730	rs1466788	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p13.3	ALX3	rs1466788-A	0.41	3E-16	(carnitine)	0.007	[0.005-0.009] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1429	chr1	110645326	110645327	rs17025426	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p13.3	UBL4B, FAM40A, SLC6A17, ALX3	rs17025426-C	0.94	2E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1429	chr1	110652879	110652880	rs514341	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	1p13.3	NR	rs514341-T	0.08	6E-6		1.5	[1.32-1.68]	Illumina [4058415] (imputed)	N
1430	chr1	110770222	110770223	rs958798	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	1p13.3	KCNC4	rs958798-T	0.17	4E-7		0.03	[NR] unit increase	Illumina [2380486] (imputed)	N
1432	chr1	111033808	111033809	rs4839431	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	1p13.3	CYMP	rs4839431-A		2E-7	(AA)			Illumina [NR]	N
1433	chr1	111237684	111237685	rs12061304	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	1p13.3	intergenic	rs12061304-?	0.10	1E-6				Affymetrix [253903]	N
1433	chr1	111258769	111258770	rs343604	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	1p13.3	KCNA3	rs343604-T	0.08	1E-6	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
1434	chr1	111356840	111356841	rs1389724	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p13.3	NR	rs1389724-T	NR	4E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1435	chr1	111417914	111417915	rs2885805	21993531	Kuparinen T	2011-10-13	Genes Immun	Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.	Cytomegalovirus antibody response	1,485 European ancestry sero-postitive individuals, 648 European ancestry sero-negative individuals	NA	1p13.3	CD53	rs2885805-A	0.28	5E-6		0.207	[0.12-0.30] unit decrease	Illumina [546677]	N
1435	chr1	111463623	111463624	rs12567355	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p13.3	CD53	rs12567355-A	0.026	9E-6	(BMD )	0.04	[NR] g/cm2 increase	Illumina [899892]	N
1437	chr1	111684275	111684276	rs1335645	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	1p13.3	CEPT1, DENND2D	rs1335645-A	0.88	7E-9		4.3	[3.50-5.20] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1438	chr1	111837134	111837135	rs7411387	25338677	Kariuki SN	2014-10-23	Genes Immun	Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.	Interferon alpha levels in systemic lupus erythematosus	88 European ancestry high interferon alpha cases, 322 European ancestry low interferon alpha cases	715 European ancestry cases, 450 African American cases	1p13.2	CHIA, RP11-165H20.1, C1orf88	rs7411387-C	NR	3E-6	(EA)	1.61	[1.24-2.10]	Illumina [291943]	N
1440	chr1	112107668	112107669	rs10776733	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p13.2	ADORA3	rs10776733-A	0.36	7E-6	(Fat mass deposition )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1440	chr1	112107668	112107669	rs10776733	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p13.2	ADORA3	rs10776733-A	0.36	7E-6	(Fat mass change )	0.03	[NR] kg/y increase	Illumina [899892]	N
1440	chr1	112107668	112107669	rs10776733	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p13.2	ADORA3	rs10776733-A	0.36	7E-6	(Energy storage )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1440	chr1	112192121	112192122	rs494453	20548944	Hsu YH	2010-06-10	PLoS Genet	An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.	Osteoporosis-related phenotypes	2,038 European ancestry female individuals, 1,531 European ancestry male individuals	5,595 European ancestry female individuals, 2,126 European ancestry male individuals	1p13.2	RAP1A	rs494453-C	0.24	4E-8	(NW, men & women)			Affymetrix [433510]	N
1441	chr1	112273484	112273485	rs1546924	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p13.2	FAM212B	rs1546924-T	0.485	5E-6		0.014	[0.0078-0.02] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1442	chr1	112392359	112392360	rs12044963	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	1p13.2	KCND3	rs12044963-A		9E-10	(AA)			Illumina [NR]	N
1442	chr1	112416362	112416363	rs2788612	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	1p13.2	KCND3	rs2788612-?	0.05	6E-16	(Prostate cancer, rectal incontinence, univariable analysis)	0.18	[NR] unit increase	Illumina [2417493] (imputed)	N
1442	chr1	112437343	112437344	rs2798334	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	P wave duration	16,468 European ancestry individuals	NA	1p13.2	KCND3	rs2798334-T	0.289	8E-11		0.918	[0.64-1.19] unit decrease	Illumina [2300000] (imputed)	N
1442	chr1	112437343	112437344	rs2798334	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1p13.2	KCND3	rs2798334-C	0.73	1E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1443	chr1	112464375	112464376	rs17029069	22683750	Sinner MF	2012-06-06	Heart Rhythm	A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.	Cardiac repolarization	7,482 European ancestry individuals	7,151 European ancestry individuals	1p13.2	KCND3	rs17029069-T	0.356	8E-6		1.29	[1.15-1.44]	Affymetrix, Illumina [2523555] (imputed)	N
1444	chr1	112610894	112610895	rs12143327	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1p13.2	LOC643355, AF357532	rs12143327-A	0.081	5E-8		3.14	[2.05-4.83]	Illumina [1556551]	N
1446	chr1	112856569	112856570	rs7555668	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	1p13.2	RP5-965F6.2	rs7555668-?	NR	3E-6	(Symbol Search)			Illumina [up to 563855]	N
1447	chr1	113046394	113046395	rs351365	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	1p13.2	WNT2B	rs351365-C	0.743	7E-7		1.1235955	[1.08-1.18]	Illumina [866891] (imputed)	N
1448	chr1	113189052	113189053	rs10745332	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	1p13.2	MOV10	rs10745332-A	0.82	3E-9		0.96	[0.61-1.31] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1448	chr1	113189052	113189053	rs10745332	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	1p13.2	MOV10	rs10745332-A	0.82	3E-9				Affymetrix, Illumina [2485448] (imputed)	N
1448	chr1	113189052	113189053	rs10745332	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	1p13.2	MOV10	rs10745332-A	0.82	8E-8		0.53	[0.33-0.73] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1448	chr1	113190806	113190807	rs17030613	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	1p13.2	ST7L, CAPZA1	rs17030613-C	0.49	8E-6	(Systolic)	0.49	[0.27-0.71] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1448	chr1	113190806	113190807	rs17030613	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	1p13.2	ST7L, CAPZA1	rs17030613-C	0.49	1E-8	(Diastolic)	0.38	[0.24-0.52] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1448	chr1	113202570	113202571	rs12120956	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p13.2	CAPZA1	rs12120956-A	0.229	2E-12		0.025	[0.017-0.033] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1448	chr1	113216542	113216543	rs2932538	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	1p13.2	MOV10	rs2932538-G	0.75	1E-9		0.388	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1448	chr1	113216542	113216543	rs2932538	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	1p13.2	MOV10	rs2932538-G	0.75	3E-7		0.049	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1448	chr1	113216542	113216543	rs2932538	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	1p13.2	MOV10	rs2932538-G	0.75	1E-9		0.24	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1448	chr1	113216542	113216543	rs2932538	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	1p13.2	MOV10	rs2932538-G	0.74	8E-6	(Mean Arterial Pressure)	0.252	[0.14-0.36] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1449	chr1	113313562	113313563	rs11590090	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	1p13.2	intergenic	rs11590090-?	NR	3E-6	(count)			Perlegen [429981]	N
1455	chr1	114053117	114053118	rs17507884	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	1p13.2	MAGI3	rs17507884-?		1E-6		0.466	[NR] unit decrease	Illumina [5970354] (imputed)	N
1455	chr1	114080070	114080071	rs2153977	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	1p13.2	MAGI3	rs2153977-T	NR	4E-7		1.491		Illumina [514008]	N
1456	chr1	114173409	114173410	rs1230666	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	1p13.2	MAG13, PTPN22	rs1230666-A	0.16	2E-8		0.0269	[0.014-0.039] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
1456	chr1	114226142	114226143	rs61742849	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	1p13.2	PHTF1, MAGI3	rs61742849-G	0.975	6E-6		0.179	[0.1-0.26] unit decrease	Illumina [6150213] (imputed)	N
1457	chr1	114303807	114303808	rs6679677	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	1p13.2	DCLRE1B, PTPN22	rs6679677-C	0.907	2E-15		1.196	[1.129-1.268]	Affymetrix, Illumina [1230000] (imputed)	N
1457	chr1	114303807	114303808	rs6679677	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	1p13.2	PHTF1, RSBN1, PTPN22	rs6679677-A	0.091	3E-13		1.361	[1.25-1.48]	Illumina [870065]	N
1457	chr1	114303807	114303808	rs6679677	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	1p13.2	PTPN22	rs6679677-A	NR	1E-40				Affymetrix [up to 335565]	N
1457	chr1	114303807	114303808	rs6679677	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	1p13.2	PTPN22	rs6679677-?	0.10	6E-42		1.79	[1.65-1.94]	Affymetrix, Illumina [at least 315971] (imputed)	N
1457	chr1	114303807	114303808	rs6679677	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	1p13.2	PTPN22	rs6679677-A	0.10	5E-26		1.82	[1.59-2.09]	Affymetrix [469557]	N
1457	chr1	114303807	114303808	rs6679677	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	1p13.2	PTPN22	rs6679677-A	0.10	6E-25		1.98	[1.72-2.27]	Affymetrix [469557]	N
1457	chr1	114303807	114303808	rs6679677	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	1p13.2	PHTF1, PTPN22	rs6679677-A	0.10	8E-24		1.89	[1.67-2.13]	Affymetrix [NR]	N
1457	chr1	114377567	114377568	rs2476601	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p13.2	NR	rs2476601-?	NR	4E-17	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1457	chr1	114377567	114377568	rs2476601	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	1p13.2	PHTF1, PTPN22	rs2476601-A	NR	7E-20		2.7073		Illumina [514008]	N
1457	chr1	114377567	114377568	rs2476601	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	1p13.2	PTPN22	rs2476601-?		5E-33		1.77	[1.61-1.95]	Affymetrix, Illumina [1831729] (imputed)	N
1457	chr1	114377567	114377568	rs2476601	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p13.2	PTPN22	rs2476601-A	0.09	9E-170	(EA)	1.8	[1.73-1.88]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1457	chr1	114377567	114377568	rs2476601	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	1p13.2	PTPN22	rs2476601-A	0.11	8E-10		1.71	[1.44-2.02]	Illumina [274256]	N
1457	chr1	114377567	114377568	rs2476601	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	1p13.2	PTPN22	rs2476601-A	NR	2E-111	(T1D)	2.0	[NR]	Affymetrix, Illumina [NR]	N
1457	chr1	114377567	114377568	rs2476601	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	1p13.2	PTPN22	rs2476601-?	NR	1E-8	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
1457	chr1	114377567	114377568	rs2476601	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	1p13.2	PTPN22	rs2476601-G	0.907	4E-9		1.26	[1.17-1.37]	Affymetrix, Illumina [953241] (imputed)	N
1457	chr1	114377567	114377568	rs2476601	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	1p13.2	PTPN22	rs2476601-A	0.10	9E-74		1.94	[1.81-2.08]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1457	chr1	114377567	114377568	rs2476601	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	1p13.2	PTPN22	rs2476601-A	0.095	1E-7		1.39	[1.23-1.57]	Illumina [520460]	N
1457	chr1	114377567	114377568	rs2476601	19503088	Gregersen PK	2009-06-07	Nat Genet	REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.	Rheumatoid arthritis	2,418 European ancestry cases, 4,504 European ancestry controls	2,604 cases, 2,882 controls	1p13.2	PTPN22	rs2476601-?	NR	2E-21				Illumina [278502]	N
1457	chr1	114377567	114377568	rs2476601	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	1p13.2	PTPN22	rs2476601-?	NR	9E-85				Affymetrix, Illumina [841622] (imputed)	N
1457	chr1	114377567	114377568	rs2476601	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	1p13.2	PTPN22	rs2476601-G	0.90	1E-8		1.31	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1457	chr1	114377567	114377568	rs2476601	17804836	Plenge RM	2007-09-05	N Engl J Med	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.	Rheumatoid arthritis	1,522 European ancestry cases, 1,850 European ancestry controls	1,053 European ancestry cases, 1,858 European ancestry controls	1p13.2	PTPN22	rs2476601-?	0.10	2E-11		1.72	[NR]	Illumina [297086]	N
1457	chr1	114377567	114377568	rs2476601	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	1p13.2	PTPN22	rs2476601-A	0.09	1E-7		1.8	[1.44-2.24]	Illumina [543071]	N
1457	chr1	114377567	114377568	rs2476601	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	1p13.2	PTPN22	rs2476601-T	0.09	2E-80		1.98	[1.82-2.15]	Affymetrix [NR]	N
1458	chr1	114429460	114429461	rs2358994	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	1p13.2	BCL2L15	rs2358994-A	NR	2E-11		1.8688		Illumina [514008]	N
1458	chr1	114444593	114444594	rs12079716	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p13.2	SYT6, AP4B1, PHTF1, MAGI3, OLFML3, RSBN1, PTPN22	rs12079716-C	0.0030	2E-6	(Total cysteine )	0.03	[NR] umol/L increase	Illumina [899892]	N
1458	chr1	114448388	114448389	rs11552449	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	1p13.2	BCL2L15, AP4B1, DCLRE1B, HIPK1, PTPN22	rs11552449-T	0.17	2E-8		1.07	[1.04-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1459	chr1	114607363	114607364	rs79079833	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p13.2	SYT6	rs79079833-G	0.011	2E-6	(Hcy )	0.03	[NR] umol/L increase	Illumina [899892]	N
1459	chr1	114670968	114670969	rs2774307	23319801	Rafiq S	2013-01-14	Cancer Res	Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.	Breast cancer (prognosis)	536 European ancestry early-onset cases	1,516 European ancestry early-onset cases	1p13.2	SYT6	rs2774307-?	0.26	8E-6		1.3	[1.16-1.47]	Illumina [487496]	N
1459	chr1	114677947	114677948	rs529989	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	1p13.2	NR	rs529989-C	0.443	6E-6		8.56	[NR] unit decrease	Illumina [527829]	N
1460	chr1	114715583	114715584	rs2774292	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	1p13.2	NR	rs2774292-?	NR	3E-6		2.0874	[NR]	Affymetrix [722112]	N
1461	chr1	114948280	114948281	rs6537825	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33, BCAS2, DENND2C	rs6537825-A	NR	3E-8		1.4	[NR]	Illumina [702234] (imputed)	N
1461	chr1	114948280	114948281	rs6537825	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?,rs11102807-?	0.382	4E-8	(AGTTGTCCA)			Illumina [702234] (imputed)	N
1461	chr1	114948280	114948281	rs6537825	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?	0.382	6E-8	(AGTTGTCC)			Illumina [702234] (imputed)	N
1461	chr1	114948280	114948281	rs6537825	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?	0.382	6E-8	(AGTTGTC)			Illumina [702234] (imputed)	N
1461	chr1	114948280	114948281	rs6537825	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?	0.382	2E-7	(AGTTGT)			Illumina [702234] (imputed)	N
1462	chr1	114959539	114959540	rs11582563	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?,rs11102807-?	0.382	4E-8	(AGTTGTCCA)			Illumina [702234] (imputed)	N
1462	chr1	114959539	114959540	rs11582563	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?	0.382	6E-8	(AGTTGTCC)			Illumina [702234] (imputed)	N
1462	chr1	114959539	114959540	rs11582563	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?	0.382	6E-8	(AGTTGTC)			Illumina [702234] (imputed)	N
1462	chr1	114959539	114959540	rs11582563	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?	0.382	2E-7	(AGTTGT)			Illumina [702234] (imputed)	N
1462	chr1	114973689	114973690	rs11585926	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?,rs11102807-?	0.382	4E-8	(AGTTGTCCA)			Illumina [702234] (imputed)	N
1462	chr1	114973689	114973690	rs11585926	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?	0.382	6E-8	(AGTTGTCC)			Illumina [702234] (imputed)	N
1462	chr1	114973689	114973690	rs11585926	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?	0.382	6E-8	(AGTTGTC)			Illumina [702234] (imputed)	N
1462	chr1	114973689	114973690	rs11585926	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?	0.382	2E-7	(AGTTGT)			Illumina [702234] (imputed)	N
1462	chr1	114996323	114996324	rs11589568	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?,rs11102807-?	0.382	4E-8	(AGTTGTCCA)			Illumina [702234] (imputed)	N
1462	chr1	114996323	114996324	rs11589568	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?	0.382	6E-8	(AGTTGTCC)			Illumina [702234] (imputed)	N
1462	chr1	114996323	114996324	rs11589568	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?	0.382	6E-8	(AGTTGTC)			Illumina [702234] (imputed)	N
1462	chr1	114996323	114996324	rs11589568	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?	0.382	2E-7	(AGTTGT)			Illumina [702234] (imputed)	N
1462	chr1	114999276	114999277	rs7511633	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?,rs11102807-?	0.382	4E-8	(AGTTGTCCA)			Illumina [702234] (imputed)	N
1462	chr1	114999276	114999277	rs7511633	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?	0.382	6E-8	(AGTTGTCC)			Illumina [702234] (imputed)	N
1462	chr1	114999276	114999277	rs7511633	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?	0.382	6E-8	(AGTTGTC)			Illumina [702234] (imputed)	N
1462	chr1	114999276	114999277	rs7511633	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?	0.382	2E-7	(AGTTGT)			Illumina [702234] (imputed)	N
1462	chr1	115039118	115039119	rs6661053	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?,rs11102807-?	0.382	4E-8	(AGTTGTCCA)			Illumina [702234] (imputed)	N
1462	chr1	115039118	115039119	rs6661053	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?	0.382	6E-8	(AGTTGTCC)			Illumina [702234] (imputed)	N
1462	chr1	115039118	115039119	rs6661053	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?	0.382	6E-8	(AGTTGTC)			Illumina [702234] (imputed)	N
1462	chr1	115039118	115039119	rs6661053	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?	0.382	2E-7	(AGTTGT)			Illumina [702234] (imputed)	N
1462	chr1	115040931	115040932	rs11102800	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?,rs11102807-?	0.382	4E-8	(AGTTGTCCA)			Illumina [702234] (imputed)	N
1462	chr1	115040931	115040932	rs11102800	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?	0.382	6E-8	(AGTTGTCC)			Illumina [702234] (imputed)	N
1462	chr1	115040931	115040932	rs11102800	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?	0.382	6E-8	(AGTTGTC)			Illumina [702234] (imputed)	N
1462	chr1	115052707	115052708	rs3827735	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?,rs11102807-?	0.382	4E-8	(AGTTGTCCA)			Illumina [702234] (imputed)	N
1462	chr1	115052707	115052708	rs3827735	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?	0.382	6E-8	(AGTTGTCC)			Illumina [702234] (imputed)	N
1462	chr1	115061583	115061584	rs11102807	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33	rs6537825-?,rs11582563-?,rs11585926-?,rs11589568-?,rs7511633-?,rs6661053-?,rs11102800-?,rs3827735-?,rs11102807-?	0.382	4E-8	(AGTTGTCCA)			Illumina [702234] (imputed)	N
1462	chr1	115073875	115073876	rs10858047	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33, BCAS2	rs10858047-?,rs11587400-?,rs1877455-?	0.444	8E-8	(rs10858047-T, rs11587400-C, rs1877455-T)			Illumina [702234] (imputed)	N
1462	chr1	115079657	115079658	rs11587400	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33, BCAS2	rs11587400-?,rs1877455-?	0.449	7E-8	(rs11587400-C, rs1877455-T)			Illumina [702234] (imputed)	N
1462	chr1	115079657	115079658	rs11587400	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33, BCAS2	rs10858047-?,rs11587400-?,rs1877455-?	0.444	8E-8	(rs10858047-T, rs11587400-C, rs1877455-T)			Illumina [702234] (imputed)	N
1463	chr1	115099091	115099092	rs1877455	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33, BCAS2	rs11587400-?,rs1877455-?	0.449	7E-8	(rs11587400-C, rs1877455-T)			Illumina [702234] (imputed)	N
1463	chr1	115099091	115099092	rs1877455	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	TRIM33, BCAS2	rs10858047-?,rs11587400-?,rs1877455-?	0.444	8E-8	(rs10858047-T, rs11587400-C, rs1877455-T)			Illumina [702234] (imputed)	N
1464	chr1	115239815	115239816	rs926938	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	NRAS, CASDE1, AMPD	rs926938-?,rs8453-?,rs10489525-?	0.465	9E-8	(rs926938-A, rs8453-G, rs10489525-G)			Illumina [702234] (imputed)	N
1464	chr1	115239815	115239816	rs926938	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	AMPD1, NRAS, CSDE1	rs926938-A	0.50	4E-8		1.27	[NR]	Illumina [702234] (imputed)	N
1464	chr1	115239815	115239816	rs926938	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	AMPD1, NRAS, CASDE1	rs926938-?,rs8453-?	0.481	3E-8	(rs926938-A, rs8453-G)			Illumina [702234] (imputed)	N
1464	chr1	115259598	115259599	rs8453	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	NRAS, CASDE1, AMPD	rs926938-?,rs8453-?,rs10489525-?	0.465	9E-8	(rs926938-A, rs8453-G, rs10489525-G)			Illumina [702234] (imputed)	N
1464	chr1	115259598	115259599	rs8453	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	AMPD1, NRAS, CASDE1	rs926938-?,rs8453-?	0.481	3E-8	(rs926938-A, rs8453-G)			Illumina [702234] (imputed)	N
1464	chr1	115263684	115263685	rs10489525	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	1p13.2	NRAS, CASDE1, AMPD	rs926938-?,rs8453-?,rs10489525-?	0.465	9E-8	(rs926938-A, rs8453-G, rs10489525-G)			Illumina [702234] (imputed)	N
1467	chr1	115619633	115619634	rs55675132	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1p13.2	NR	rs55675132-C	NR	2E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1467	chr1	115677945	115677946	rs12134493	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	1p13.2	TSPAN2	rs12134493-A	0.12	5E-8		1.18	[1.11-1.26]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1467	chr1	115677945	115677946	rs12134493	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	1p13.2	TSPAN2	rs12134493-A	0.12	5E-14		1.14	[1.10-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1467	chr1	115734090	115734091	rs195204	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (heaviness of drinking)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	1p13.2	intergenic	rs195204-T	0.24	9E-6		0.1	[NR] unit increase	Illumina [~ 300000]	N
1469	chr1	115875644	115875645	rs4332358	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	1p13.2	NR	rs4332358-?	NR	5E-6		1.2615	[NR]	Affymetrix [722112]	N
1469	chr1	115921354	115921355	rs7552722	23535911	Kitamoto T	2013-03-28	Hum Genet	Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.	Non-alcoholic fatty liver disease	392 Japanese ancestry cases, 934 Japanese ancestry controls	172 Japanese ancestry cases, 1,012 Japanese ancestry controls	1p13.2	NGF	rs7552722-A	0.32	7E-6		1.27	[1.00-1.61]	Illumina [261540]	N
1473	chr1	116427566	116427567	rs11590526	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	1p13.1	intergenic	rs11590526-T	0.077	9E-6		0.039	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1475	chr1	116740449	116740450	rs4839516	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		1p13.1	intergenic	rs4839516-A	0.31	4E-7		0.079	[0.05-0.108] unit increase	Illumina [~ 2400000] (imputed)	N
1475	chr1	116761693	116761694	rs74346392	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1p13.1	intergenic	rs74346392-G	0.005	7E-6		7.7	[2.7-21.93]	Illumina [1556551]	N
1477	chr1	117038286	117038287	rs12025416	21244703	Wang JH	2011-01-18	Genome Med	Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.	Multiple sclerosis	2,124 cases, 6,720 controls	1,618 cases, 1,988 controls	1p13.1	CD58	rs12025416-?	NR	1E-7		1.45	[1.25-1.69]	Affymetrix, Illumina [~ 2560000] (imputed)	N
1478	chr1	117100956	117100957	rs1335532	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1p13.1	CD58	rs1335532-A	NR	3E-16		1.22	[1.19-1.24]	Illumina [465434]	N
1478	chr1	117100956	117100957	rs1335532	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	1p13.1	CD58	rs1335532-A	0.87	1E-7		1.28	[NR]	Illumina [302098]	N
1478	chr1	117104214	117104215	rs2300747	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	1p13.1	CD58	rs2300747-A	0.91	6E-9		1.37	[NR]	Affymetrix, Illumina [2529394]	N
1478	chr1	117104214	117104215	rs2300747	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	1p13.1	CD58	rs2300747-A	0.88	3E-10		1.3	[1.14-1.47]	Affymetrix, Illumina [~ 2560000] (imputed)	N
1478	chr1	117129710	117129711	rs17036023	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	1p13.1	IGSF3	rs17036023-?	NR	5E-6				Affymetrix [786195]	N
1479	chr1	117263789	117263790	rs624988	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1p13.1	CD2	rs624988-T	0.4	8E-10	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1481	chr1	117469780	117469781	rs2806864	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	1p13.1	PTGFRN	rs2806864-?	0.15	6E-7		6.42	[NR]	Affymetrix [512497]	N
1483	chr1	117751364	117751365	rs12046117	19116933	Hinks A	2009-01-01	Arthritis Rheum	Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis.	Arthritis (juvenile idiopathic)	279 European ancestry cases, 184 European ancestry controls	up to 654 European ancestry cases, 2,024 European ancestry controls	1p12	VTCN1	rs12046117-?	0.09	1E-6		1.58	[1.29-1.94]	Affymetrix [88862]	N
1491	chr1	118816728	118816729	rs7527203	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1p12	SPAG17	rs7527203-A	0.013	2E-6	(Total T3 )	0.03	[NR] ng/dL increase	Illumina [899892]	N
1491	chr1	118849761	118849762	rs7513464	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	1p12	SPAG17	rs7513464-C	0.37	2E-32		0.063	[0.051-0.075] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1491	chr1	118852974	118852975	rs12731372	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	SPAG17	rs12731372-C	0.7659	5E-7		0.02	[0.012-0.028] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1491	chr1	118852974	118852975	rs12731372	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	SPAG17	rs12731372-C	0.7625	1E-7	(EA)	0.0213	[0.013-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1491	chr1	118855586	118855587	rs9428104	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p12	SPAG17	rs9428104-A	0.247	3E-36		0.043	[0.037-0.049] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1491	chr1	118855586	118855587	rs9428104	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1p12	SPAG17	rs9428104-A	0.24	6E-23		0.041	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1491	chr1	118864601	118864602	rs7536458	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	1p12	SPAG17	rs7536458-G	0.25	1E-10		0.064	[0.044-0.084] unit decrease	Affymetrix, Illumina [2193675] (imputed)	N
1491	chr1	118864615	118864616	rs7534091	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	1p12	SPAG17	rs7534091-A	0.74	2E-16		1.22	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1491	chr1	118868404	118868405	rs17038182	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Height	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	1p12	intergenic	rs17038182-C	0.42	5E-7		0.3	[0.18-0.42] cm decrease	Affymetrix [2156535] (imputed)	N
1492	chr1	118883972	118883973	rs12735613	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	1p12	SPAG17	rs12735613-A	0.24	4E-11		0.08	[0.05-0.11] s.d. decrease (males)	Affymetrix [402951]	N
1492	chr1	118902977	118902978	rs2474937	23708190	Hu Z	2013-05-26	Nat Genet	A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.	Congenital heart malformation	945 Han Chinese ancestry cases, 1,246 Han Chinese ancestry controls	2,160 Han Chinese ancestry cases, 3,866 Han Chinese ancestry controls	1p12	TBX15, SPAG17	rs2474937-C	0.08	8E-10		1.4	[1.26-1.56]	Illumina [708275]	N
1493	chr1	119030697	119030698	rs10923574	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Folding of antihelix	4,919 Latin American individuals	NA	1p12	NR	rs10923574-?	NR	4E-7	(FDR adjusted)			Illumina [671038]	N
1493	chr1	119144431	119144432	rs10802047	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	1p12	intergenic	rs10802047-?	0.38	2E-6		0.25	[0.15-0.36] unit decrease	Illumina [2095209]	N
1496	chr1	119497153	119497154	rs12143789	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs12143789-C	0.209	7E-6	(EA, men)	0.0274	[0.015-0.039] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1496	chr1	119497153	119497154	rs12143789	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs12143789-C	0.2064	7E-6	(men)	0.0273	[0.015-0.039] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1496	chr1	119497153	119497154	rs12143789	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs12143789-C	0.2055	8E-9	(EA)	0.0244	[0.016-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1496	chr1	119497153	119497154	rs12143789	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs12143789-C	0.2028	4E-9		0.0246	[0.016-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1496	chr1	119503842	119503843	rs984222	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	1p12	TBX15, WARS2	rs984222-G	0.64	9E-25		0.03	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
1496	chr1	119504360	119504361	rs9659323	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1p12	TBX15	rs9659323-A	0.553	7E-7	(EA, men)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1496	chr1	119531496	119531497	rs1106529	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs1106529-A	0.7579	5E-9	(EA, men)	0.0343	[0.023-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1496	chr1	119531496	119531497	rs1106529	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs1106529-A	0.7541	2E-18	(EA)	0.035	[0.027-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1496	chr1	119531496	119531497	rs1106529	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs1106529-A	0.7525	2E-19		0.0349	[0.027-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1496	chr1	119531496	119531497	rs1106529	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs1106529-A	0.7515	6E-9	(men)	0.033	[0.022-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1496	chr1	119531496	119531497	rs1106529	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs1106529-A	0.7511	3E-13	(women)	0.0377	[0.028-0.048] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1496	chr1	119531496	119531497	rs1106529	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15	rs1106529-A	0.7499	3E-12	(EA, women)	0.0365	[0.026-0.047] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1497	chr1	119574586	119574587	rs2645294	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15, WARS2	rs2645294-T	0.5834	1E-7	(EA, men)	0.0266	[0.017-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1497	chr1	119574586	119574587	rs2645294	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15, WARS2	rs2645294-T	0.5797	2E-19	(EA)	0.0312	[0.024-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1497	chr1	119574586	119574587	rs2645294	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15, WARS2	rs2645294-T	0.579	7E-8	(men)	0.0264	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1497	chr1	119574586	119574587	rs2645294	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15, WARS2	rs2645294-T	0.5774	2E-20		0.0309	[0.024-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1497	chr1	119574586	119574587	rs2645294	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15, WARS2	rs2645294-T	0.5752	2E-14	(EA, women)	0.035	[0.026-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1497	chr1	119574586	119574587	rs2645294	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1p12	TBX15, WARS2	rs2645294-T	0.5749	7E-15	(women)	0.0346	[0.026-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1499	chr1	119875729	119875730	rs17023457	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Folding of antihelix	4,919 Latin American individuals	NA	1p12	TBX15	rs17023457-C	0.39	1E-11		0.087	unit decrease	Illumina [671038]	N
1499	chr1	119875729	119875730	rs17023457	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear morphology	4,919 Latin American individuals	NA	1p12	TBX15	rs17023457-C	0.39	5E-12				Illumina [671038]	N
1499	chr1	119875729	119875730	rs17023457	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Antitragus size	4,919 Latin American individuals	NA	1p12	TBX15	rs17023457-C	0.39	2E-8		0.06	unit decrease	Illumina [671038]	N
1500	chr1	119952775	119952776	rs12141041	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p12	HAO2	rs12141041-T	0.47	2E-12	(alpha-hydroxyisovalerate)	0.025	[0.017-0.033] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1500	chr1	120017926	120017927	rs7551641	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1p12	HSD3B1, LOC391076, LOC391077, LOC644213	rs7551641-C	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1502	chr1	120209754	120209755	rs1163251	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1p12	PHGDH	rs1163251-T	0.6	7E-27	(serine)	0.019	[0.015-0.023] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1502	chr1	120255125	120255126	rs478093	23378610	Xie W	2013-02-01	Diabetes	Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.	Metabolite levels	1,004 European ancestry individuals	339 European ancestry individuals	1p12	PHGDH	rs478093-G	0.71	2E-14	(serine)			Affymetrix [909508] (imputed)	N
1502	chr1	120257575	120257576	rs477992	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Amino acid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	1p12	PHGDH	rs477992-A	0.3081	3E-21	(Serine)	0.0397	[0.031-0.048] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1502	chr1	120257575	120257576	rs477992	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	1p12	PHGDH	rs477992-A	0.313	3E-14	(serine)	0.051	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1502	chr1	120264822	120264823	rs12144094	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1p12	PHGDH	rs12144094-C	0.844	2E-9		0.025	[0.017-0.033] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1503	chr1	120437883	120437884	rs2641348	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p12	NR	rs2641348-A	0.89	4E-6	(EA)	1.0770205		Affymetrix, Illumina [~ 9000000] (imputed)	N
1503	chr1	120437883	120437884	rs2641348	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1p12	NR	rs2641348-G	0.89	1E-9	(EA)	1.1290045		Affymetrix, Illumina [~ 9000000] (imputed)	N
1503	chr1	120451189	120451190	rs3897478	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	1p12	ADAM30	rs3897478-T	0.891	2E-11		1.161	[1.101-1.224]	Affymetrix, Illumina [1230000] (imputed)	N
1504	chr1	120517958	120517959	rs10923931	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	1p12	NOTCH2, ADAM30	rs10923931-T	0.11	4E-8		1.13	[1.08-1.17]	Affymetrix, Illumina [2202892] (imputed)	N
1509	chr1	121200489	121200490	rs6600671	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	1p11.2	intergenic	rs6600671-?	NR	6E-7	(NeckZ1rf)			Affymetrix [70897]	N
1510	chr1	121280612	121280613	rs11249433	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	1p11.2	intergenic	rs11249433-G	0.4	2E-26		1.09	[1.07-1.11]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1510	chr1	121280612	121280613	rs11249433	19330030	Thomas G	2009-03-29	Nat Genet	A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).	Breast cancer	1,145 European ancestry cases, 1,142 European ancestry controls	8,625 European ancestry cases, 9,657 European ancestry controls	1p11.2	intergenic	rs11249433-C	0.39	7E-10		1.16	[1.09-1.24] (Het)	Illumina [528173]	N
1691	chr1	144992180	144992181	rs2863344	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	1q21.2	PDE4DIP	rs2863344-?	NR	2E-6				NR [~ 2000000]	N
1694	chr1	145395603	145395604	rs12091564	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	1q21.1	HFE2	rs12091564-?,rs10218795-?	(CC)	2E-7	(Coronary artery disease)			Affymetrix [407576]	N
1694	chr1	145416055	145416056	rs10218795	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	1q21.1	HFE2	rs12091564-?,rs10218795-?	(CC)	2E-7	(Coronary artery disease)			Affymetrix [407576]	N
1696	chr1	145645605	145645606	rs12744221	23962720	Speed D	2013-08-19	Hum Mol Genet	A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.	Epilepsy (remission after treatment)	889 European and unknown ancestry epilepsy cases	NA	1q21.1	NR	rs12744221-C	0.65	6E-6		1.66	[NR]	Illumina [6923995] (imputed)	N
1696	chr1	145723644	145723645	rs1967017	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	1q21.1	PDZK1	rs1967017-C	0.53	5E-9		0.065	[0.043-0.087] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1696	chr1	145723644	145723645	rs1967017	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	1q21.1	PDZK1	rs1967017-T	0.47	4E-8	(Urate)	3.33	[2.15-4.51] umol/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1696	chr1	145723738	145723739	rs1471633	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	1q21.1	PDZK1	rs1471633-C	0.53	2E-6	(men)	0.068	[0.041-0.095] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1696	chr1	145723738	145723739	rs1471633	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	1q21.1	PDZK1	rs1471633-A	0.46	1E-29		0.059	[0.049-0.069] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1696	chr1	145725688	145725689	rs12129861	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	1q21.1	PDZK1	rs12129861-A	0.46	3E-9		0.06	[0.042-0.083] mg/dl decrease	Affymetrix, Illumina [2493963] (imputed)	N
1696	chr1	145727682	145727683	rs1797052	24152035	Goodbourn PT	2013-10-23	Genes Brain Behav	Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.	Contrast sensitivity	985 European ancestry individuals	NA	1q21.1	PDZK1	rs1797052-?	0.0547	8E-9		5.72	[NR] unit increase	Illumina [642758]	N
1702	chr1	146508933	146508934	rs12122100	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	1q21.1	NR	rs12122100-?	NR	1E-6	(progression)			Illumina [NR]	N
1703	chr1	146560563	146560564	rs11239930	21502085	Troyer JL	2011-05-01	J Infect Dis	Genome-wide association study implicates PARD3B-based AIDS restriction.	AIDS progression	755 European ancestry seroconverter cases	NA	1q21.1	NBPF14	rs11239930-?	0.58	2E-6		1.47	[NR]	Affymetrix [700022]	N
1704	chr1	146693228	146693229	rs2354432	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	1q21.1	FMO5	rs2354432-?	NR	6E-6			[NR]	Illumina [283437]	N
1705	chr1	146854835	146854836	rs4950322	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	1q21.1	CHD1L	rs4950322-?	0.21	7E-7	(Hgb)			Illumina [496032]	N
1705	chr1	146854835	146854836	rs4950322	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	1q21.1	CHD1L	rs4950322-?	0.21	2E-7	(Resistin)			Illumina [496032]	N
1706	chr1	146979515	146979516	rs631288	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1q21.2	NR	rs631288-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1706	chr1	146996479	146996480	rs11240074	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	1q21.2	BCL9, CHD1L	rs11240074-?	NR	6E-6		0.21	[0.11-0.31] unit increase	Illumina [1075436] (imputed)	N
1706	chr1	147020455	147020456	rs594206	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)	64 Japanese ancestry cases, 27 Japanese ancestry controls	NA	1q21.2	BCL9	rs594206-A	0.78	6E-7	(Dominant)	36.3	[4.58-287]	Illumina [555600]	N
1707	chr1	147083113	147083114	rs583583	23382809	Xu C	2013-01-29	PLoS One	BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies.	Schizophrenia (negative symptoms)	1,774 European ancestry cases, 2,726 European ancestry controls		1q21.2	BCL9	rs583583-A	0.28	6E-7		1.3	[NR]	Affymetrix [729454]	N
1708	chr1	147226261	147226262	rs12724666	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	1q21.2	PDZK1P1	rs12724666-A	NR	9E-8	(WAP, All)	1.1	[0.71-1.49] unit increase	Illumina [7600000] (imputed)	N
1708	chr1	147226790	147226791	rs1891498	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	1q21.2	GJA5	rs1891498-?	NR	9E-6	(Digit Span Forward)			Illumina [up to 563855]	N
1728	chr1	149892871	149892872	rs11205277	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	1q21.2	SV2A	rs11205277-A	0.67	1E-12		0.046	[0.032-0.06] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1728	chr1	149892871	149892872	rs11205277	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Birth length	28,459 European ancestry individuals	16,145 European ancestry individuals, 280 Moroccan ancestry individuals, 284 Surinamese ancestry individuals, 319 Turkish ancestry individuals, 651 Chinese ancestry individuals	1q21.2	SF3B4	rs11205277-A	0.373	8E-6		0.041	[0.023-0.059] unit decrease	Affymetrix, Illumina [2201971] (imputed)	N
1728	chr1	149892871	149892872	rs11205277	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1q21.2	SF3B4	rs11205277-A	0.58	5E-32		0.046	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1728	chr1	149892871	149892872	rs11205277	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	1q21.2	Histone class 2A, MTMR11, SV2A, SF3B4	rs11205277-G	0.44	1E-10		5.1	[3.53-6.67] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1728	chr1	149906412	149906413	rs11205303	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	1q21.2	SF3B4	rs11205303-C	0.34	2E-16		0.087	[0.065-0.109] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
1728	chr1	149906412	149906413	rs11205303	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	1q21.2	MTMR11	rs11205303-C	0.38	4E-23		1.25	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1728	chr1	149914356	149914357	rs1061955	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q21.2	OTUD7B	rs1061955-A	0.014	4E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1728	chr1	149938897	149938898	rs3767627	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1q21.2	OTUD7B	rs3767627-T	0.844	4E-19		0.036	[0.028-0.044] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1729	chr1	150008789	150008790	rs12073359	25963547	Wilson CL	2015-05-11	Cancer	Genetic and clinical factors associated with obesity among adult survivors of childhood cancer: A report from the St. Jude Lifetime Cohort.	Obesity in adult survivors of childhood cancer not exposed to cranial radiation	359 obese individuals, 861 non-obese individuals	NA	1q21.2	VPS45	rs12073359-?	NR	5E-6		1.7	(1.4-2.1)	Affymetrix [NR] (imputed)	N
1729	chr1	150031489	150031490	rs140505938	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q21.2	NR	rs140505938-C	NR	4E-10		1.098901	[NR]	Illumina [7158791] (imputed)	N
1729	chr1	150031489	150031490	rs140505938	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	1q21.2	ANP32E, APH1A, C1orf51, C1orf54, CA14, OTUD7B, PLEKHO1, VPS45	rs140505938-T	0.836	4E-10		1.0940919	[1.06-1.13]	Affymetrix, Illumina [9005918] (imputed)	N
1729	chr1	150066383	150066384	rs12058524	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	1q21.2	VPS45	rs12058524-T	0.15	2E-6		0.223	[0.13-0.32] unit decrease	Affymetrix [2366856] (imputed)	N
1730	chr1	150114082	150114083	rs7517537	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	1q21.2	VPS45	rs7517537-T	0.14	2E-6		0.227	[0.13-0.32] unit decrease	Affymetrix [2366856] (imputed)	N
1731	chr1	150278388	150278389	rs12403795	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	1q21.2	NR	rs12403795-A	0.142	5E-6		12.28	[NR] unit decrease	Illumina [527829]	N
1731	chr1	150324283	150324284	rs11587682	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	1q21.2	NR	rs11587682-C	NR	7E-6	(5 degree of freedom test)	1.086	[1.05-1.12]	NR [1252901] (imputed)	N
1733	chr1	150540180	150540181	rs72700829	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q21.2	NR	rs72700829-C	NR	3E-8		1.1363636	[NR]	Illumina [7158791] (imputed)	N
1734	chr1	150658286	150658287	rs17599629	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	1q21.3	NR	rs17599629-G	0.21	9E-6		1.12	[1.06-1.17]	Affymetrix [up to 19977088] (imputed)	N
1734	chr1	150658286	150658287	rs17599629	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	1q21.3	NR	rs17599629-G	0.21	1E-6	(European)	1.14	[1.08-1.20]	Affymetrix [up to 19977088] (imputed)	N
1734	chr1	150658286	150658287	rs17599629	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	1q21.3	GOLPH3L	rs17599629-G	0.22	6E-11	(EA)	1.1	[1.07-1.13]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1734	chr1	150658286	150658287	rs17599629	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	1q21.3	GOLPH3L	rs17599629-G	0.22	3E-9		1.08	[1.06-1.11]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1734	chr1	150727538	150727539	rs2230061	24064335	Pei YF	2013-10-08	Hum Mol Genet	Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.	Fat body mass	6,433 European ancestry individuals, 709 African American individuals, 408 Hispanic individuals, 1,622 Han Chinese ancestry individuals	4,967 European ancestry individuals, 2,740 Han Chinese ancestry individuals	1q21.3	CTSS	rs2230061-A	NR	4E-8	(Adjusted by Lean body mass)	0.06	[0.040-0.080] unit decrease	Affymetrix, Illumina [4325550] (imputed)	N
1735	chr1	150860470	150860471	rs7412746	21983785	Macgregor S	2011-10-09	Nat Genet	Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.	Melanoma	2,168 European ancestry cases, 4,387 European ancestry controls	5,193 European ancestry cases, 15,144 European ancestry controls	1q21.3	ARNT, SETDB1, LASS2, ANXA9, MCL1, CTSK	rs7412746-T	0.55	9E-11		1.15	[NR]	Illumina [5480804] (imputed)	N
1736	chr1	150940624	150940625	rs267738	23585552	Kirin M	2013-04-11	Hum Mol Genet	Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.	Rhegmatogenous retinal detachment	867 European ancestry cases, 1,953 European ancestry controls	1,966 European ancestry cases, 5,918 European ancestry controls	1q21.3	PRUNE, ARNT, ANXA9, CERS2, MCL1, SETBD1, CTSK, CTSS, GOLPH3L, FAM63A, HORMAD1, ADAMTSL4, ENSA	rs267738-A	0.275	1E-7		1.23	[1.14-1.33]	Illumina [299737]	N
1736	chr1	150950061	150950062	rs4970988	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	1q21.3	ARNT	rs4970988-A	0.36	1E-7	(network)	0.028	[0.018-0.038] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1736	chr1	150951476	150951477	rs267734	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	1q21.3	SETDB1, LASS2, ANXA9, PRUNE, FAM63A, BNIPL	rs267734-C	0.20	1E-12	(eGFRcrea)	0.01	[0.004-0.016] ml/min/1.73m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1736	chr1	150958835	150958836	rs267733	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1q21.3	ANXA9, CERS2	rs267733-G	0.16	5E-9		0.033	[NR] unit decrease	NR [NR] (imputed)	N
1736	chr1	150961868	150961869	rs1722784	21926416	Amos CI	2011-09-22	Hum Mol Genet	Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.	Melanoma	1,804 European ancestry cases, 1,026 European ancestry controls	6,483 European and Middle East/North African ancestry cases, 23,324 European and Middle East/North African ancestry controls	1q21.3	ANXA9	rs1722784-?	NR	2E-6		1.12	[NR]	Illumina [818977]	N
1737	chr1	151103152	151103153	rs4357530	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q21.3	SEMA6C	rs4357530-G	0.334	3E-6		0.015	[0.0085-0.0211] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1737	chr1	151103152	151103153	rs4357530	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q21.3	SEMA6C	rs4357530-G	0.325	5E-6	(EA, women)	0.019	[0.011-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1737	chr1	151103152	151103153	rs4357530	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q21.3	SEMA6C	rs4357530-G	0.323	2E-6	(EA)	0.016	[0.0095-0.0225] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1739	chr1	151344740	151344741	rs2769264	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Cu levels)	2,603 European ancestry individuals	NA	1q21.3	PSMB4, POGZ, SELENBP1	rs2769264-G	NR	3E-20		0.313	[0.25-0.38] unit increase	Illumina [> 2500000] (imputed)	N
1743	chr1	151786371	151786372	rs3790515	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	1q21.3	RORC	rs3790515-T	0.08	3E-7		0.79	[0.54-1.04] unit increase	Illumina [NR] (imputed)	N
1743	chr1	151801679	151801680	rs4845604	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q21.3	NR	rs4845604-G	0.85	1E-18	(EA)	1.1778549		Affymetrix, Illumina [~ 9000000] (imputed)	N
1743	chr1	151801679	151801680	rs4845604	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q21.3	NR	rs4845604-G	0.85	1E-17	(EA)	1.1315535		Affymetrix, Illumina [~ 9000000] (imputed)	N
1743	chr1	151801679	151801680	rs4845604	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q21.3	NR	rs4845604-A	0.85	1E-7	(EA)	1.0955864		Affymetrix, Illumina [~ 9000000] (imputed)	N
1743	chr1	151801679	151801680	rs4845604	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1q21.3	RORC	rs4845604-G	0.857	4E-16		1.144	[1.098-1.192]	Affymetrix, Illumina [1230000] (imputed)	N
1743	chr1	151839837	151839838	rs12566232	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1q21.3	THEM4	rs12566232-A	0.71	6E-19	(X-13431--nonanoylcarnitine)	0.045	[0.035-0.055] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1743	chr1	151858887	151858888	rs6685187	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1q21.3	THEM4	rs6685187-A	0.41	3E-26	(X12442--5,8-tetradecadienoate)	0.043	unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1743	chr1	151882855	151882856	rs10788817	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	1q21.3	THEM4	rs10788817-G	0.54	3E-13	(3-hydroxydecanoate)	0.11	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1743	chr1	151895092	151895093	rs10788819	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	1q21.3	AL450992.4	rs10788819-T	NR	2E-8				Illumina [~ 1000000] (imputed)	N
1743	chr1	151897376	151897377	rs3007711	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	1q21.3	intergenic	rs3007711-?	NR	9E-6	(SCL)	0.051	[0.027-0.075] unit decrease	Illumina [527829]	N
1743	chr1	151907172	151907173	rs10494270	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	1q21.3	THEM4	rs10494270-A	0.7153	5E-13	(Nonaylcarnitine)	0.0687	[0.05-0.087] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1744	chr1	151930644	151930645	rs6693388	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	1q21.3	THEM4	rs6693388-T	0.69	4E-38	(linoleate (18:2n6)/X-12442--5,8-tetradecadienoate)	0.041	[0.035-0.047] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1744	chr1	152037514	152037515	rs3124314	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	1q21.3	AL591893.2	rs3124314-T	NR	4E-6				Illumina [~ 1000000] (imputed)	N
1745	chr1	152062766	152062767	rs17646946	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	1q21.3	TCHH	rs17646946-A	0.20	2E-42	(hair curl)	0.29	[NR] unit decrease	Illumina [535076]	N
1745	chr1	152083324	152083325	rs11803731	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	1q21.3	TCHH	rs11803731-A	0.82	3E-31		6.11	[NR] % variance	Illumina [~ 1000000] (imputed)	N
1745	chr1	152162105	152162106	rs12130219	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1q21.3	FLG-AS1	rs12130219-?	NR	1E-23	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
1745	chr1	152168739	152168740	rs55879323	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1q21.3	FLG-AS1	rs55879323-?	NR	3E-12	(Atopic dermatitis)			Affymetrix, Illumina [~ 5200000]	N
1746	chr1	152300816	152300817	rs3126085	21666691	Sun LD	2011-06-13	Nat Genet	Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population.	Atopic dermatitis	1,012 Han Chinese ancestry cases, 1,362 Han Chinese ancestry controls	3,624 Han Chinese ancestry cases, 12,197 Han Chinese ancestry controls, 1,806 European ancestry cases, 3,256 European ancestry controls	1q21.3	FLG	rs3126085-A	0.58	6E-12		1.22	[NR]	Illumina [491905]	N
1747	chr1	152316589	152316590	rs3120665	20691247	Verweij KJ	2010-08-04	Biol Psychol	A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.	Personality dimensions	5,117 European ancestry individuals from 2567 families	NA	1q21.3	intergenic	rs3120665-G	0.16	4E-6	(Novelty Seeking)	0.14	[NR] unit decrease	Affymetrix, Illumina [1252387] (imputed)	N
1747	chr1	152318160	152318161	rs3120667	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders	543 European ancestry female cases, 1,116 European ancestry female controls	NA	1q21.3	FLG, FLG2, CRNN	rs3120667-A	0.845	2E-6		0.118	[0.069-0.167] unit decrease	Illumina [6150213] (imputed)	N
1748	chr1	152440175	152440176	rs11205006	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	1q21.3	FLG	rs11205006-A	NR	2E-25		1.615	[1.543-1.691]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1748	chr1	152440909	152440910	rs12144049	25865352	Schaarschmidt H	2015-04-10	J Allergy Clin Immunol	A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.	Atopic dermatitis	870 European ancestry cases, 5,293 European ancestry controls	1,383  European ancestry cases, 1,728 European ancestry controls	1q21.3	EDC	rs12144049-C	0.279	1E-16		1.39	[NR]	Affymetrix [1623390] (imputed)	N
1748	chr1	152440909	152440910	rs12144049	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1q21.3	RP1-91G5.3	rs12144049-?	NR	3E-30	(Atopic dermatitis)	1.54	[1.37-1.73]	Affymetrix, Illumina [~ 5200000]	N
1748	chr1	152442288	152442289	rs6661961	23886662	Weidinger S	2013-07-25	Hum Mol Genet	A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.	Atopic dermatitis	1563 European ancestry cases, 4,054 European ancestry controls	2,286 European ancestry cases, 3,160 European ancestry controls	1q21.3	FLG	rs6661961-T	NR	9E-11		0.338	[0.24-0.44] unit increase	Illumina [2406139] (imputed)	N
1748	chr1	152454254	152454255	rs471144	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1q21.3	RP1-91G5.3, LCE5A	rs471144-?	NR	2E-12	(Atopic dermatitis)	1.54	[1.37-1.73]	Affymetrix, Illumina [~ 5200000]	N
1748	chr1	152454590	152454591	rs908922	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	1q21.3	LCE5A	rs908922-A	NR	4E-6				Illumina [~ 1000000] (imputed)	N
1748	chr1	152487916	152487917	rs73004856	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q21.3	CRCT1	rs73004856-A	0.024	3E-6	(NEFA )	0.02	[NR] mmol/L increase	Illumina [899892]	N
1748	chr1	152492558	152492559	rs4845783	21804549	Torgerson DG	2011-07-31	Nat Genet	Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.	Asthma	2,088 European ancestry cases, 1,612 African American and African Caribbean cases, 1,688 Hispanic cases	2,727 European ancestry cases, 2,147 African American and African Caribbean cases, 2,299 Hispanic cases	1q21.3	CRCT1	rs4845783-?	NR	6E-6				Affymetrix, Illumina [> 2000000] (imputed)	N
1748	chr1	152493153	152493154	rs499697	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	1q21.3	LCE3E	rs499697-G	0.29	1E-10	(hair curl)	0.13	[NR] unit increase	Illumina [535076]	N
1748	chr1	152532741	152532742	rs10888499	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1q21.3	LCE3E	rs10888499-?	NR	5E-25	(Atopic dermatitis)	1.49	[1.38-1.61]	Affymetrix, Illumina [~ 5200000]	N
1748	chr1	152537953	152537954	rs10888501	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	1q21.3	intergenic	rs10888501-?	NR	1E-6	(olanzapine)	9.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
1748	chr1	152550017	152550018	rs4085613	19169255	Zhang XJ	2009-01-25	Nat Genet	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	Psoriasis	1,139 Han Chinese ancestry cases, 1,132 Han Chinese ancestry controls	5,721 Chinese ancestry cases, 7,340 Chinese ancestry controls	1q21.3	LCE3D, LCE3A	rs4085613-A	0.43	7E-30		1.32	[1.25-1.39]	Illumina [494902]	N
1748	chr1	152551275	152551276	rs4112788	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	1q21.3	LCE3D	rs4112788-?	NR	3E-10		1.29	[1.19-1.40]	Illumina [535475]	N
1749	chr1	152592280	152592281	rs1581803	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1q21.3	LCE3A	rs1581803-?	NR	2E-12	(Psoriasis)	1.22	[1.15-1.30]	Affymetrix, Illumina [~ 5200000]	N
1749	chr1	152603841	152603842	rs4845459	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	1q21.3	LCE region	rs4845459-A	0.651	6E-11	(EA)	1.25	[1.17-1.34]	Illumina [up to 4778154] (imputed)	N
1749	chr1	152603841	152603842	rs4845459	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	1q21.3	LCE region	rs4845459-A	0.651	5E-17		1.27	[1.2-1.35]	Illumina [up to 4778154] (imputed)	N
1749	chr1	152603841	152603842	rs4845459	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	1q21.3	LCE region	rs4845459-A	0.61	1E-7	(Chinese)	1.32	[1.19-1.46]	Illumina [up to 4778154] (imputed)	N
1750	chr1	152757094	152757096	rs77199844	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1q21.3	LCE1E	rs77199844-?	NR	2E-17	(Atopic dermatitis)	1.23	[1.15-1.32]	Affymetrix, Illumina [~ 5200000]	N
1751	chr1	152886873	152886874	rs34599045	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1q21.3	NR	rs34599045-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1752	chr1	152989320	152989321	rs4363385	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1q21.3	SNORA31, SPRR3, SPRR1B	rs4363385-?	NR	2E-15	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
1755	chr1	153479997	153479998	rs4845552	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	1q21.3	S100A5	rs4845552-?	NR	6E-6				Illumina [516645]	N
1757	chr1	153640826	153640827	rs7536700	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		1q21.3	NR	rs7536700-A	0.07	9E-6	(non t11;14 and t4;14 IgH translocations vs. controls)	1.86	[1.42-2.46]	Illumina [414804] (imputed)	N
1757	chr1	153640826	153640827	rs7536700	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		1q21.3	NR	rs7536700-A	0.07	4E-6	(Any IgH translocation vs. controls)	1.53	[1.28-1.84]	Illumina [414804] (imputed)	N
1758	chr1	153769399	153769400	rs9426935	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	1q21.3	LOC343052	rs9426935-C	0.49	5E-6		96.63	[NR] unit decrease	Illumina [2380200] (imputed)	N
1758	chr1	153774275	153774276	rs4434872	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	1q21.3	LOC343052	rs4434872-T	0.263	8E-6		0.08	[NR] unit increase	Illumina [948658]	N
1758	chr1	153848995	153848996	rs7414227	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	1q21.3	GATAD2B	rs7414227-G	0.49	3E-6		99.5	[NR] unit decrease	Illumina [2380200] (imputed)	N
1759	chr1	153913769	153913770	rs2252508	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	1q21.3	DENND4B	rs2252508-G	0.47	5E-6		97.78	[NR] unit decrease	Illumina [2380200] (imputed)	N
1759	chr1	153939129	153939130	rs11264736	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	1q21.3	SLC39A1	rs11264736-T	0.47	4E-6		98.69	[NR] unit decrease	Illumina [2380200] (imputed)	N
1761	chr1	154252859	154252860	rs7521837	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q21.3	NR	rs7521837-T	NR	9E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1763	chr1	154418878	154418879	rs4537545	19567438	Elliott P	2009-07-01	JAMA	Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.	C-reactive protein	17,967 European ancestry and Indian Asian ancestry individuals	13,615 European ancestry and Indian Asian ancestry Individuals	1q21.3	IL6R	rs4537545-T	NR	2E-14		11.5	[8.5-14.4] % decrease	Affymetrix, Illumina, Perlegen [~ 1400000] (imputed)	N
1763	chr1	154420086	154420087	rs61812598	25340798	Kauwe JS	2014-10-23	PLoS Genet	Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.	Cerebrospinal fluid levels of Alzheimer's disease-related proteins	574 individuals	NA	1q21.3	IL6R, TDRD10, SHE, UBE2Q1, ADAR	rs61812598-G	NR	6E-63	(Interleukin-6 receptor)			Illumina [5815690] (imputed)	N
1763	chr1	154426263	154426264	rs4129267	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	1q21.3	IL6R	rs4129267-T	0.39	6E-27	(EA)	0.011	[0.009-0.013] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
1763	chr1	154426263	154426264	rs4129267	21907864	Ferreira MA	2011-09-10	Lancet	Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.	Asthma	12,475 European ancestry cases, 19,967 European ancestry controls	3,322 European ancestry cases, 22,036 European ancestry controls	1q21.3	IL6R	rs4129267-T	0.37	2E-8		1.09	[1.06-1.12]	Illumina [NR] (imputed)	N
1763	chr1	154426263	154426264	rs4129267	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	1q21.3	IL6R	rs4129267-C	NR	2E-48		0.079	[0.07-0.09] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1763	chr1	154426263	154426264	rs4129267	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	1q21.3	IL6R	rs4129267-?	0.37	2E-57	(sIL-6R)			Illumina [496032]	N
1763	chr1	154426263	154426264	rs4129267	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	1q21.3	IL6R	rs4129267-?	NR	7E-6	(ppFEF)			Affymetrix [70897]	N
1763	chr1	154426969	154426970	rs2228145	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1q21.3	IL6R	rs2228145-A	0.6	5E-6	(EA)	1.07	[1.04-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1763	chr1	154426969	154426970	rs2228145	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1q21.3	IL6R	rs2228145-A	0.6	4E-9		1.08	[1.05-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1763	chr1	154437895	154437896	rs2229238	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	1q21.3	ILR6	rs2229238-?	NR	7E-7		1.45	[NR]	Affymetrix [~ 5000000] (imputed)	N
1765	chr1	154685540	154685541	rs16830122	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	1q21.3	KCNN3	rs16830122-A	0.13	2E-6		1.17	[1.10-1.25]	NR [NR]	N
1765	chr1	154754193	154754194	rs6691316	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q21.3	KCNN3	rs6691316-G	0.318	9E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1765	chr1	154754193	154754194	rs6691316	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q21.3	KCNN3	rs6691316-G	0.318	7E-6	(AST/ALT)	0.03	[NR] unit increase	Illumina [899892]	N
1766	chr1	154814267	154814268	rs6666258	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	1q21.3	KCNN3, PMVK	rs6666258-C	0.30	2E-14		1.18	[1.13-1.23]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1766	chr1	154814352	154814353	rs13376333	20173747	Ellinor PT	2010-02-21	Nat Genet	Common variants in KCNN3 are associated with lone atrial fibrillation.	Atrial fibrillation	1,335 European ancestry cases, 12,844 European ancestry controls	1,164 European ancestry cases, 3,607 European ancestry controls	1q21.3	KCNN3	rs13376333-T	0.30	2E-21		1.52	[1.40-1.64]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1766	chr1	154834182	154834183	rs1218582	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	1q21.3	ADAM15, ADAR, CKS1B, DCST1, DCST2, EFNA3, EFNA4, LOC10050, FLAD1, KCNN3, LENEP, LOC100505666, MIR4258, PBXIP1, DPM3, PYGO2, EFNA1, SHC1, SLC50A1, ZBTB7B, PMVK	rs1218582-G	0.45	2E-8		1.06	[1.03-1.09]	Illumina [~ 2600000] (imputed)	N
1766	chr1	154849770	154849771	rs12069356	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q21.3	NR	rs12069356-A	NR	2E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1766	chr1	154855054	154855055	rs1630500	24842889	Vacic V	2014-05-19	Hum Mol Genet	Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.	Parkinson's disease	1,130 Ashkenazi Jewish cases, 2,611 Ashkenazi Jewish controls	306 Ashkenazi Jewish cases, 2,583 Ashkenazi Jewish controls	1q21.3	GBA	rs1630500-?	0.045	2E-8		1.75	[1.43-2.15]	Affymetrix, Illumina [1069161] (imputed)	N
1767	chr1	154990296	154990297	rs2242194	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q21.3	NR	rs2242194-G	NR	2E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1767	chr1	154991388	154991389	rs905938	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q21.3	DCST2	rs905938-T	0.7437	3E-10		0.0249	[0.017-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1767	chr1	154991388	154991389	rs905938	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q21.3	DCST2	rs905938-T	0.7427	7E-10	(EA)	0.0249	[0.017-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1767	chr1	154991388	154991389	rs905938	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q21.3	DCST2	rs905938-T	0.7427	5E-10	(EA, women)	0.0337	[0.023-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1767	chr1	154991388	154991389	rs905938	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q21.3	DCST2	rs905938-T	0.7427	3E-10	(women)	0.0333	[0.023-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1767	chr1	154991388	154991389	rs905938	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Birth length	28,459 European ancestry individuals	16,145 European ancestry individuals, 280 Moroccan ancestry individuals, 284 Surinamese ancestry individuals, 319 Turkish ancestry individuals, 651 Chinese ancestry individuals	1q21.3	DCST2	rs905938-C	0.24	2E-8		0.046	[0.030-0.062] unit increase	Affymetrix, Illumina [2201971] (imputed)	N
1768	chr1	155098904	155098905	rs11264330	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q22	EFNA1	rs11264330-A	0.06	5E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1768	chr1	155108166	155108167	rs12726330	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	1q22	GBA	rs12726330-?	NR	5E-8		1.71	[NR]	Illumina [2500000] (imputed)	N
1768	chr1	155126947	155126948	rs10908458	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	1q22	DPM3, EFNA1, PKLR	rs10908458-T	0.58	2E-15		3.7	[3.10-4.20] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1768	chr1	155135035	155135036	rs35749011	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	1q22	GBA, SYT11	rs35749011-A	0.017	1E-29		1.824	[1.72-1.93]	Illumina [7893274] (imputed)	N
1768	chr1	155151492	155151493	rs11264341	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	1q22	TRIM46, PKLR	rs11264341-T	0.43	6E-19		0.05	[0.038-0.062] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1768	chr1	155155730	155155731	rs4971100	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	1q22	MUC1	rs4971100-A	NR	4E-7	(EA)	0.02982	(0.01832-0.04132) mg/dl increase	Illumina [up to 509150]	N
1768	chr1	155155730	155155731	rs4971100	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	1q22	MUC1	rs4971100-A	NR	1E-7		0.0262	[NR] mg/dl increase	Illumina [up to 509150]	N
1768	chr1	155162066	155162067	rs4072037	26129866	Hu N	2015-06-30	Gut	Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.	Gastric cancer	2,350 East Asian ancestry cases, 2,708 East Asian ancestry controls	7,408  East Asian ancestry cases, 7,548  East Asian ancestry controls	1q22	MUC1	rs4072037-A	NR	7E-8		1.32	[1.19-1.45]	Illumina [556896]	N
1768	chr1	155162066	155162067	rs4072037	26098866	Helgason H	2015-06-22	Nat Genet	Loss-of-function variants in ATM confer risk of gastric cancer.	Gastric cancer	2,500 European ancestry cases, 205,652 European ancestry controls (includes non-array genotyped, whole genome imputed individuals)	NA	1q22	MTX1, HCN3, MUC1	rs4072037-?,rs760077-?	NR	2E-9		1.27	[NR]	Illumina [~ 25000000] (imputed)	N
1768	chr1	155162066	155162067	rs4072037	26058915	Tin A	2015-05-29	BMC Genet	Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study.	Magnesium levels	2,737 African American individuals	942 African American individuals	1q22	MUC1	rs4072037-C	0.32	9E-12		0.012	[NR] mmol/L decrease	Affymetrix [14825944] (imputed)	N
1768	chr1	155162066	155162067	rs4072037	20729852	Abnet CC	2010-08-22	Nat Genet	A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.	Esophageal cancer and gastric cancer	1,625 Chinese ancestry gastric cancer cases, 1,898 Chinese ancestry ESCC cases, 2,100 Chinese ancestry controls	NA	1q22	NR	rs4072037-A	0.84	4E-7	(Total gastric)	1.33	[1.19-1.49]	Illumina [551152]	N
1768	chr1	155162066	155162067	rs4072037	20700443	Meyer TE	2010-08-05	PLoS Genet	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	Magnesium levels	15,366 European ancestry individuals	8,463 European ancestry individuals	1q22	MUC1	rs4072037-C	0.46	2E-36		0.01	[0.008-0.012] mmol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1768	chr1	155178781	155178782	rs760077	26098866	Helgason H	2015-06-22	Nat Genet	Loss-of-function variants in ATM confer risk of gastric cancer.	Gastric cancer	2,500 European ancestry cases, 205,652 European ancestry controls (includes non-array genotyped, whole genome imputed individuals)	NA	1q22	MTX1, HCN3, MUC1	rs4072037-?,rs760077-?	NR	2E-9		1.27	[NR]	Illumina [~ 25000000] (imputed)	N
1768	chr1	155184974	155184975	rs140081212	26098866	Helgason H	2015-06-22	Nat Genet	Loss-of-function variants in ATM confer risk of gastric cancer.	Gastric cancer	2,500 European ancestry cases, 205,652 European ancestry controls (includes non-array genotyped, whole genome imputed individuals)	NA	1q22	MTX1, HCN3, MUC1	rs140081212-G	0.646	8E-10		1.2658228	[1.18-1.37]	Illumina [~ 25000000] (imputed)	N
1768	chr1	155184974	155184975	rs140081212	26098866	Helgason H	2015-06-22	Nat Genet	Loss-of-function variants in ATM confer risk of gastric cancer.	Gastric adenocarcinoma (histologically verified)	2,043 European ancestry cases, 202,533 European ancestry controls	NA	1q22	MTX1, HCN3, MUC1	rs140081212-G	0.646	2E-8		1.2658228	[1.16-1.37]	Illumina [~ 25000000] (imputed)	N
1769	chr1	155194979	155194980	rs2049805	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	1q22	MTX1, GBA	rs2049805-T	0.17	2E-12		0.0072	[0.0052-0.0092] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
1772	chr1	155682869	155682870	rs490608	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q22	NR	rs490608-?	NR	1E-6	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1774	chr1	155868624	155868625	rs2282301	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	1q22	RIT1	rs2282301-A	0.23	7E-6	(int, MW)	2.88	[NR] unit increase	Perlegen [429901]	N
1774	chr1	155876612	155876613	rs3856261	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q22	NR	rs3856261-G	NR	3E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1774	chr1	155878731	155878732	rs670523	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q22	NR	rs670523-A	0.329	6E-9	(EA)	1.0770509	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1774	chr1	155878731	155878732	rs670523	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1q22	RIT1, MSTO1, UBQLN4	rs670523-A	0.324	6E-11		1.06	[1.028-1.092]	Affymetrix, Illumina [1230000] (imputed)	N
1774	chr1	155927751	155927752	rs2364403	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	1q22	ARHGEF2	rs2364403-A	0.2	1E-6	(Meta)			Illumina [254145]	N
1775	chr1	156030036	156030037	rs34372695	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	1q22	SYT11	rs34372695-T	0.03	4E-12		1.47	[1.35-1.59]	Illumina [7689524] (imputed)	N
1776	chr1	156169609	156169610	rs2072499	25877299	Kristiansen W	2015-04-15	Hum Mol Genet	Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.	Testicular germ cell tumor	1,326 European ancestry cases, 6,687 European ancestry controls	710 European ancestry case-parent triads, 289 European ancestry cases, 290 European ancestry controls	1q22	SLC20A44	rs2072499-G	0.354	3E-7		1.22	[NR]	Illumina [610240]	N
1776	chr1	156169609	156169610	rs2072499	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	1q22	SLC25A44	rs2072499-G	0.35	3E-8		1.19	[1.08-1.30]	Illumina [307291]	N
1776	chr1	156197379	156197380	rs2984613	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	1q22	PMF1, BGLAP	rs2984613-C	0.65	2E-8				Affymetrix, Illumina [14227402] (imputed)	N
1776	chr1	156197379	156197380	rs2984613	24656865	Woo D	2014-03-18	Am J Hum Genet	Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.	Intracerebral hemorrhage	664 European ancestry lobar cases, 881 European ancestry nonlobar cases, 1,481 European ancestry controls	513 European ancestry cases, 634 African American cases, 534 Hispanic cases, 1,552 European ancestry controls, 449 African American controls, 260 Hispanic controls	1q22	PMF1, SLC25A44	rs2984613-C	0.68	2E-10	(nonlobar)	1.33	[1.22-1.46]	Affymetrix, Illumina [5258103] (imputed)	N
1777	chr1	156255455	156255456	rs6684514	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	1q22	CCT3, TMEM79, c1orf85	rs6684514-G	0.76	1E-23		0.09	[0.070-0.110] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
1777	chr1	156255455	156255456	rs6684514	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin concentration	14,377 Japanese ancestry individuals	NA	1q22	CCT3, BGLAP, PAQR6, SMG5, TMEM79, C1orf182, C1orf85, VHLL	rs6684514-A	0.21	3E-9		0.086	[0.057-0.115] unit decrease	Illumina [561583]	N
1777	chr1	156341493	156341494	rs7525133	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1q22	RHBG	rs7525133-A	0.09	5E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1777	chr1	156356479	156356480	rs6686886	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1q22	CCT3, C1orf182, C1orf61, RHBG	rs6686886-G	0.14	9E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1778	chr1	156446241	156446242	rs2274316	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	1q22	MEF2D, APOA1BP	rs2274316-C	0.36	1E-7		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1778	chr1	156446241	156446242	rs2274316	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	1q22	MEF2D, APOA1BP	rs2274316-C	0.36	1E-8		1.07	[1.05-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1778	chr1	156456300	156456301	rs3790455	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	1q22	MEF2D	rs3790455-C	0.34	7E-11		1.2	[1.14-1.27]	Illumina [1246388] (imputed)	N
1780	chr1	156700650	156700651	rs12145743	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1q23.1	HDGF, PMVK	rs12145743-G	0.34	2E-8		0.02	[NR] unit increase	NR [NR] (imputed)	N
1781	chr1	156827702	156827703	rs115699453	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	1q23.1	NR	rs115699453-?		3E-7	(PCB169)	1.21	[0.74-1.68] unit decrease	Illumina [8736858] (imputed)	N
1781	chr1	156869046	156869047	rs12566888	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	1q23.1	PEAR1	rs12566888-A	0.103	5E-19	(epinephrine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
1781	chr1	156869046	156869047	rs12566888	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	1q23.1	PEAR1	rs12566888-A	0.102	4E-16	(ADP)			Affymetrix, Illumina [~ 2330000] (imputed)	N
1783	chr1	157130565	157130566	rs6427356	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	1q23.1	ETV3L, ETV3	rs6427356-G	0.28	8E-6				Perlegen [378332]	N
1786	chr1	157437509	157437510	rs6686423	22044751	Foster MC	2011-11-01	BMC Med Genet	Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.	Renal sinus fat	2,809 European ancestry individuals	NA	1q23.1	FCRL5	rs6686423-A	0.31	8E-6		0.194	[0.11-0.28] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1787	chr1	157669277	157669278	rs3761959	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	1q23.1	FCRL3	rs3761959-A	0.40	2E-13		1.23	[1.17-1.30]	Illumina [486049]	N
1787	chr1	157669277	157669278	rs3761959	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1q23.1	FCRL3	rs3761959-G	NR	3E-6		1.08	[1.06-1.09]	Illumina [465434]	N
1787	chr1	157670756	157670757	rs11264799	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	1q23.1	FCRL3	rs11264799-C	0.775	2E-7		1.135	[1.082-1.191]	Illumina [3792949] (imputed)	N
1787	chr1	157670815	157670816	rs7528684	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	1q23.1	FCRL3	rs7528684-T	NR	1E-11	(I-A2A)	1.52	[NR]	Affymetrix, Illumina [NR]	N
1787	chr1	157674996	157674997	rs2317230	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1q23.1	FCRL3	rs2317230-T	0.42	2E-7		1.07	[1.04-1.09]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1790	chr1	158058108	158058109	rs6427419	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q23.1	KIRREL	rs6427419-C	0.353	8E-6	(Diet fat )	0.03	[NR] %energy increase	Illumina [899892]	N
1791	chr1	158091416	158091417	rs12068986	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	1q23.1	intergenic	rs12068986-?	NR	4E-7	(Alpha peak frequency, occipital	0.084	[0.053-0.115] unit decrease	Illumina [527829]	N
1794	chr1	158575728	158575729	rs857684	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	1q23.1	OR10Z1, OR6Y1, SPTA1	rs857684-C	0.74	4E-16	(EA, MCHC)	0.006	[-0.01556-0.02756] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1794	chr1	158585414	158585415	rs2779116	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	1q23.1	SPTA1	rs2779116-T	0.27	3E-9		0.02	[0.01-0.03] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1795	chr1	158612547	158612548	rs857721	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Other erythrocyte phenotypes	24,167 European ancestry individuals	9,456 European ancestry individuals	1q23.1	SPTA1	rs857721-A	NR	1E-10	(MCHC)	0.0	[0.001-0.002] g/dl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1796	chr1	158744059	158744060	rs2325694	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	1q23.1	NR	rs2325694-A	0.0322	2E-6	(Trans/trans-18:2, EA)	0.0056	[0.0032-0.008] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1796	chr1	158744230	158744231	rs2325695	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	1q23.1	NR	rs2325695-A	0.9679	2E-6	(Trans/trans-18:2, EA)	0.0056	[0.0032-0.008] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1797	chr1	158932554	158932555	rs1101999	21804549	Torgerson DG	2011-07-31	Nat Genet	Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.	Asthma	2,088 European ancestry cases, 1,612 African American and African Caribbean cases, 1,688 Hispanic cases	2,727 European ancestry cases, 2,147 African American and African Caribbean cases, 2,299 Hispanic cases	1q23.1	PYHIN1	rs1101999-?	NR	4E-9				Affymetrix, Illumina [> 2000000] (imputed)	N
1797	chr1	158971085	158971086	rs4657616	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	1q23.1	DARC	rs4657616-G	0.099	5E-47	(AA, WBC)	0.0612	[0.053-0.07] unit increase	Illumina [544917]	N
1798	chr1	159002221	159002222	rs861318	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q23.1	MNDA, AIM2, IFI16	rs861318-A	0.12	1E-6	(Diet carbohydrate )	0.04	[NR] g/d increase	Illumina [899892]	N
1798	chr1	159005648	159005649	rs1772408	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	1q23.1	IFI16	rs1772408-?	NR	8E-7				Illumina [472854]	N
1798	chr1	159012645	159012646	rs2570916	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Neutrophil count in HIV-infection	2,547 individuals	NA	1q23.1	PYHIN1, IFI16, AIM2	rs2570916-?	0.4191	3E-6		0.041722316	[NR] unit decrease	Illumina [5954294] (imputed)	N
1798	chr1	159062435	159062436	rs2518564	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	1q23.1	DARC	rs2518564-A	0.1725	1E-149	(AA)	0.1905	[0.18-0.20] unit increase	Illumina [NR] (imputed)	N
1798	chr1	159062435	159062436	rs2518564	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	1q23.1	DARC	rs2518564-?	NR	7E-69		0.0365	[0.032-0.041] unit increase	Illumina [NR] (imputed)	N
1799	chr1	159147451	159147452	rs3026968	22291609	Naitza S	2012-01-26	PLoS Genet	A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.	Inflammatory biomarkers	4,694 Sardinian individuals	1,392 Sardinian individuals	1q23.2	CADM3	rs3026968-T	0.12	9E-14	(MCP-1)			Affymetrix [~ 1900000] (imputed)	N
1799	chr1	159148512	159148513	rs1474747	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	1q23.2	IGSF4B	rs1474747-?	NR	3E-6	(MCP1)			Affymetrix [70897]	N
1799	chr1	159173886	159173887	rs3027009	22744181	Hai R	2012-06-29	Sci China Life Sci	Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche.	Lean body mass and age at menarche (combined)	801 Han Chinese ancestry female individuals	1,692 European ancestry female individuals	1q23.2	DARC	rs3027009-?	NR	7E-7	(Bivariate)			Affymetrix [909622]	N
1799	chr1	159174682	159174683	rs2814778	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Neutrophil count in HIV-infection	2,547 individuals	NA	1q23.2	MPTX, DARC, CADM3	rs2814778-C	0.31	3E-17		0.11156583	[NR] unit decrease	Illumina [5954294] (imputed)	N
1799	chr1	159174682	159174683	rs2814778	22037903	Crosslin DR	2011-10-30	Hum Genet	Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.	White blood cell count	12,046 European ancestry individuals, 1,487 African ancestry individuals	NA	1q23.2	DARC	rs2814778-A	0.18	7E-55	(AA)	1.35	[1.19-1.51] K/ul increase	Illumina [532566]	N
1799	chr1	159174682	159174683	rs2814778	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	1q23.2	DARC	rs2814778-?	NR	1E-8				Illumina [874956]	N
1799	chr1	159175353	159175354	rs12075	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	1q23.2	intergenic	rs12075-A	0.577	1E-6		0.022	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1799	chr1	159175353	159175354	rs12075	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q23.2	FCER1A, OR10J1, DARC, OR10J5	rs12075-A	0.436	1E-21	(MCP1 )	0.1	[NR] pg/mL increase	Illumina [899892]	N
1799	chr1	159175353	159175354	rs12075	23017229	Voruganti VS	2012-09-24	Cytokine	Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children.	Monocyte chemoattractant protein-1	815 Hispanic children	NA	1q23.2	DARC	rs12075-A	0.43	1E-21				Illumina [NR]	N
1799	chr1	159175353	159175354	rs12075	22291609	Naitza S	2012-01-26	PLoS Genet	A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.	Inflammatory biomarkers	4,694 Sardinian individuals	1,392 Sardinian individuals	1q23.2	DARC	rs12075-A	0.49	4E-51	(MCP-1)			Affymetrix [~ 1900000] (imputed)	N
1799	chr1	159175353	159175354	rs12075	22037903	Crosslin DR	2011-10-30	Hum Genet	Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.	White blood cell count	12,046 European ancestry individuals, 1,487 African ancestry individuals	NA	1q23.2	DARC	rs12075-G	0.08	5E-24	(AA)	1.27	[1.03-1.51] K/ul increase	Illumina [532566]	N
1799	chr1	159175526	159175527	rs13962	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	1q23.2	DARC	rs13962-A	NR	2E-11		0.09	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
1799	chr1	159196764	159196765	rs10489849	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	1q23.2	IGSF4B	rs10489849-?	NR	1E-6	(MCP1)			Affymetrix [70897]	N
1799	chr1	159218265	159218266	rs3845624	22291609	Naitza S	2012-01-26	PLoS Genet	A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.	Inflammatory biomarkers	4,694 Sardinian individuals	1,392 Sardinian individuals	1q23.2	DARC	rs3845624-C	0.47	2E-11	(hsCRP)			Affymetrix [~ 1900000] (imputed)	N
1800	chr1	159272059	159272060	rs2251746	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	1q23.2	FCER1A	rs2251746-C	NR	5E-26		0.09	[NR] unit increase	Affymetrix [2540223] (imputed)	N
1800	chr1	159272059	159272060	rs2251746	18846228	Weidinger S	2008-08-22	PLoS Genet	Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.	IgE levels	1,530 European ancesrty individuals	9,769 European ancestry individuals	1q23.2	FCER1A	rs2251746-C	0.26	2E-20		19.2	[NR] % decrease	Affymetrix [353569]	N
1800	chr1	159278250	159278251	rs2494250	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	1q23.2	FCER1A, OR10J3	rs2494250-?	NR	1E-14	(MCP1)			Affymetrix [70897]	N
1800	chr1	159308070	159308071	rs12074934	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1q23.2	OR10J3, OR10J7P	rs12074934-C	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
1800	chr1	159326879	159326880	rs4656784	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	1q23.2	OR10J3	rs4656784-G	NR	2E-16		0.08	[NR] unit increase	Affymetrix [2540223] (imputed)	N
1800	chr1	159342438	159342439	rs6687840	20237162	Bozaoglu K	2010-03-17	J Clin Endocrinol Metab	Chemerin, a novel adipokine in the regulation of angiogenesis.	Chemerin levels	858 Mexican American family members and individuals	NA	1q23.2	OR10J3	rs6687840-?	NR	7E-6				Illumina [542944]	N
1800	chr1	159357683	159357684	rs4446959	20237162	Bozaoglu K	2010-03-17	J Clin Endocrinol Metab	Chemerin, a novel adipokine in the regulation of angiogenesis.	Chemerin levels	858 Mexican American family members and individuals	NA	1q23.2	OR10J1	rs4446959-?	NR	8E-6				Illumina [542944]	N
1801	chr1	159405958	159405959	rs4128725	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	1q23.2	OR10J1	rs4128725-?	NR	4E-12	(MCP1)			Affymetrix [70897]	N
1801	chr1	159453936	159453937	rs4133289	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	1q23.2	OR10J1, OR10J5	rs4133289-?	0.19	2E-7	(Hgb)			Affymetrix [70897]	N
1801	chr1	159462380	159462381	rs4325129	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q23.2	OR10J1, OR10J5	rs4325129-G	0.148	6E-6	(MCP1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1803	chr1	159647987	159647988	rs12093699	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	1q23.2	CRP	rs12093699-?	0.29	6E-6	(CRP)			Illumina [496032]	N
1803	chr1	159655517	159655518	rs726640	22492993	Doumatey AP	2012-04-05	Hum Mol Genet	C-reactive protein (CRP) promoter polymorphisms influence circulating CRP levels in a genome-wide association study of African Americans.	C-reactive protein	837 African American individuals	486 West African ancestry individuals	1q23.2	CRPP1, CRP	rs726640-?	NR	2E-13		0.44	[0.32-0.56] log mg/dl increase	Affymetrix [2366856] (imputed)	N
1803	chr1	159674932	159674933	rs876537	21647738	Wu Y	2011-06-07	Inflammation	Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.	C-reactive protein	1,709 Filipino ancestry female individuals	NA	1q23.2	CRP	rs876537-C	0.43	1E-9		0.288	[0.20-0.38] unit increase	Affymetrix [2073674] (imputed)	N
1803	chr1	159676170	159676171	rs16842559	23844046	Dorajoo R	2013-07-02	PLoS One	Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?	C-reactive protein	2,179 Chinese ancestry individuals, 2,275 Malay ancestry individuals, 2,238 Asian Indian ancestry individuals	NA	1q23.2	CRP	rs16842559-T	0.887	4E-21		0.106	[NR] unit increase	Illumina [up to 1745429] (imputed)	N
1803	chr1	159678815	159678816	rs2794520	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	1q23.2	CRP	rs2794520-C	NR	2E-186		0.16	[0.15-0.17] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1803	chr1	159678815	159678816	rs2794520	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	1q23.2	CRP	rs2794520-A	0.36	3E-22	(CRP)	0.47	[0.32-0.62] mmol/l decrease	Illumina [329091]	N
1803	chr1	159678815	159678816	rs2794520	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	1q23.2	CRP	rs2794520-?	NR	3E-8	(CRP average 2,6,7)			Affymetrix [70897]	N
1803	chr1	159680867	159680868	rs2808630	18385676	Amos CI	2008-04-03	Nat Genet	Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.	Lung cancer	1,154 European ancestry cases, 1,137 European ancestry controls	2,724 European ancestry cases, 3,694 European ancestry controls	1q23.2	CRP	rs2808630-G	NR	7E-6		1.22	[1.10-1.35]	Illumina [317498]	N
1803	chr1	159684664	159684665	rs3091244	18439548	Ridker PM	2008-04-24	Am J Hum Genet	Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.	C-reactive protein	6,345 European ancestry female individuals	NA	1q23.2	CRP	rs3091244-?	NR	6E-28		0.2	[NR] mg/dl increase	Illumina [336108]	N
1803	chr1	159685135	159685136	rs3093059	21196492	Okada Y	2010-12-31	Hum Mol Genet	Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.	C-reactive protein	10,112 Japanese ancestry individuals	2,742 Japanese ancestry individuals	1q23.2	CRP	rs3093059-G	0.12	4E-21		0.161	[0.13-0.19] unit increase	Illumina [477784]	N
1803	chr1	159691558	159691559	rs1341665	22291609	Naitza S	2012-01-26	PLoS Genet	A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.	Inflammatory biomarkers	4,694 Sardinian individuals	1,392 Sardinian individuals	1q23.2	CRP	rs1341665-A	0.963	2E-20	(hsCRP)			Affymetrix [~ 1900000] (imputed)	N
1803	chr1	159692536	159692537	rs12068753	25266886	Kim JJ	2014-09-30	Pediatr Cardiol	Common Variants in the CRP Promoter are Associated with a High C-Reactive Protein Level in Kawasaki Disease.	Inflammatory biomarkers in Kawasaki disease	178 Korean ancestry cases	473 Korean ancestry cases	1q23.2	CRP	rs12068753-A	0.144	1E-13	(C-reactive protein)	3.97	[2.95-4.99] mg/dL increase	Illumina [646914]	N
1803	chr1	159692572	159692573	rs2808634	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	1q23.2	FCER1A, DUSP23, OR10J1, APCS, DARC, IFI16, OR10J5, CRP, OR10J3, OLFML2B, FCRL6	rs2808634-T	0.156	3E-10	(AA women)	0.153	[0.11-0.20] unit decrease	Affymetrix [up to 2203609] (imputed)	N
1803	chr1	159698548	159698549	rs7553007	24763700	Vinayagamoorthy N	2014-04-24	PLoS One	New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.	C-reactive protein levels	7,626 Korean ancestry individuals	903 Korean ancestry individuals	1q23.2	CRP	rs7553007-C	0.369	2E-16		0.164	[NR] unit increase	Affymetrix [1219546] (imputed)	N
1803	chr1	159698548	159698549	rs7553007	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	1q23.2	FCER1A, DUSP23, OR10J1, APCS, DARC, IFI16, OR10J5, CRP, OR10J3, OLFML2B, FCRL6	rs7553007-T	0.228	1E-37	(AA women)	0.272	[0.23-0.31] unit decrease	Affymetrix [up to 2203609] (imputed)	N
1803	chr1	159698548	159698549	rs7553007	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	1q23.2	CRP	rs7553007-G	0.344	1E-9	(HA women)	0.129	[0.078-0.180] unit increase	Affymetrix [up to 2203609] (imputed)	N
1803	chr1	159698548	159698549	rs7553007	19567438	Elliott P	2009-07-01	JAMA	Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.	C-reactive protein	17,967 European ancestry and Indian Asian ancestry individuals	13,615 European ancestry and Indian Asian ancestry Individuals	1q23.2	CRP	rs7553007-A	NR	8E-44		20.7	[18.9-23.4] % decrease	Affymetrix, Illumina, Perlegen [~ 1400000] (imputed)	N
1803	chr1	159700038	159700039	rs11265260	18439552	Reiner AP	2008-04-24	Am J Hum Genet	Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.	C-reactive protein	909 European ancestry individuals	5,106 European ancestry individuals	1q23.2	CRP	rs11265260-?	NR	7E-6				Illumina [317000]	N
1803	chr1	159710516	159710517	rs11265263	21396408	Miller EK	2011-03-25	Vaccine	Atopy history and the genomics of wheezing after influenza vaccination in children 6-59 months of age.	Vaccine-related adverse events	6 European ancestry cases,55 European ancestry controls	NA	1q23.2	intergenic	rs11265263-?	0.04	3E-6	(wheezing)			Illumina [468458]	N
1803	chr1	159753182	159753183	rs4233356	21787189	Nyberg F	2011-07-01	Pharmacogenomics	Interstitial lung disease in gefitinib-treated Japanese patients with non-small-cell lung cancer: genome-wide analysis of genetic data.	Interstitial lung disease	80 Japanese ancestry cases, 194 Japanese ancestry controls	NA	1q23.2	DUSP23	rs4233356-T	NR	9E-6		2.51	[1.64-3.84]	Illumina, Perlegen [465816]	N
1804	chr1	159818512	159818513	rs6659742	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	1q23.2	C10ORF204	rs6659742-?	NR	7E-7	(OCB negative vs. controls)	1.99	[1.52-2.61]	Illumina [495970]	N
1804	chr1	159856428	159856429	rs2501324	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	1q23.2	CCDC19	rs2501324-?	0.01	2E-10		0.14	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
1804	chr1	159886421	159886422	rs12122337	25557950	Alonso A	2014-12-31	Gastroenterology	Identification of Risk Loci for Crohn's Disease Phenotypes Using a Genome-wide Association Study.	Crohn's disease-related phenotypes	up to 1,090 Southern European ancestry Crohn's disease cases	up to 1,296 Southern European ancestry Crohn's disease cases	1q23.2	TAGLN2	rs12122337-G	0.06	1E-6	(CDC Perianal)	2.2	[1.56-3.07]	Illumina [539846]	N
1806	chr1	160077853	160077854	rs6688363	23241943	Clark SL	2012-12-12	Pharmacogenet Genomics	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	Response to antipsychotic treatment	Up to 421 European ancestry Schizophrenia cases, up to 214 African American individuals, up to 103 individuals	NA	1q23.2	ATP1A2	rs6688363-T	0.166	2E-7	(Effect of Olanzapine on CGI-S)			Affymetrix [492900]	N
1808	chr1	160421915	160421916	rs16832015	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	1q23.2	VANGL2	rs16832015-?	0.01081	2E-6	(IED)			Illumina [475971]	N
1809	chr1	160464910	160464911	rs1265883	23612905	Zhao SX	2013-04-29	Hum Mol Genet	Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.	Graves' disease	1,442 Han Chinese ancestry cases, 1,468 Han Chinese ancestry controls	7,891 Han Chinese ancestry cases, 8,351 Han Chinese ancestry controls	1q23.2	SLAMF6	rs1265883-C	0.1	2E-18		1.34	[1.25-1.43]	Illumina [8019905] (imputed)	N
1809	chr1	160516307	160516308	rs6427528	23555300	Cui J	2013-03-28	PLoS Genet	Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis.	Response to anti-TNF treatment in rheumatoid arthritis	733 European ancestry cases	139 European ancestry cases, 151 Japanese ancestry cases	1q23.3	CD84	rs6427528-A	0.08	2E-6	(Etanercept, EA)			Illumina [~ 2000000] (imputed)	N
1810	chr1	160630142	160630143	rs11265461	22479419	Liou YJ	2012-03-27	PLoS One	Genome-wide association study of treatment refractory schizophrenia in Han Chinese.	Schizophrenia (treatment resistant)	522 Han Chinese ancestry cases, 806 Han Chinese ancestry controls	273 Han Chinese ancestry cases	1q23.3	SLAMF1	rs11265461-C	0.41	2E-7		1.45	[1.26-1.67]	Affymetrix [694436]	N
1811	chr1	160743748	160743749	rs12068654	24700089	Miura K	2014-04-04	J Med Virol	Genome-wide association study of HPV-associated cervical cancer in Japanese women.	Cervical cancer	226 Japanese ancestry cases, 186 Japanese ancestry controls	NA	1q23.3	intergenic	rs12068654-T	0.885	5E-6		3.23	[2.06-6.93]	Affymetrix [556045]	N
1811	chr1	160746075	160746076	rs576523	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	1q23.3	intergenic	rs576523-?	NR	2E-7				NR [~ 2000000]	N
1812	chr1	160830267	160830268	rs4656940	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	1q23.3	CD244, ITLN1	rs4656940-A	0.801	6E-7		1.15	[1.09-1.21]	Affymetrix, Illumina [953241] (imputed)	N
1812	chr1	160852045	160852046	rs2274910	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	1q23.3	ITLN1	rs2274910-C	0.68	1E-9		1.14	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1812	chr1	160854525	160854526	rs2297559	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q23.3	NR	rs2297559-?	NR	2E-11	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1812	chr1	160856963	160856964	rs4656958	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q23.3	NR	rs4656958-G	0.68	3E-9	(EA)	1.0859073		Affymetrix, Illumina [~ 9000000] (imputed)	N
1812	chr1	160856963	160856964	rs4656958	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q23.3	NR	rs4656958-A	0.68	5E-7	(EA)	1.0694069		Affymetrix, Illumina [~ 9000000] (imputed)	N
1812	chr1	160856963	160856964	rs4656958	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1q23.3	CD244, ITLN1, CD48, SLAMF1, F11R, USF1, SLAMF7, ARHGAP30	rs4656958-G	0.686	7E-9		1.061	[1.029-1.094]	Affymetrix, Illumina [1230000] (imputed)	N
1814	chr1	161200486	161200487	rs4073054	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1q23.3	NR1I3	rs4073054-A	0.63	4E-19	(X-10395)	0.016	[0.012-0.02] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1815	chr1	161272440	161272441	rs4657015	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1q23.3	LOC642502, PCP4L1, MPZ, SDHC	rs4657015-G	0.58	8E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1816	chr1	161405052	161405053	rs72717009	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1q23.3	FCGR2A	rs72717009-T	0.12	5E-7	(EA)	1.12	[1.07-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1816	chr1	161405052	161405053	rs72717009	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1q23.3	FCGR2A	rs72717009-T	0.1	1E-7		1.13	[1.08-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1816	chr1	161463586	161463587	rs7535475	24039173	McGrath LM	2013-09-13	Am J Med Genet B Neuropsychiatr Genet	Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia.	Functional impairment in major depressive disorder, bipolar disorder and schizophrenia	2,246 European ancestry individuals	NA	1q23.3	FCGR2A, FCGR3A, HSPA6	rs7535475-?	NR	3E-6	(MCS)			Affymetrix [1633452] (imputed)	N
1816	chr1	161472157	161472158	rs10800309	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q23.3	NR	rs10800309-?	NR	4E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1816	chr1	161472157	161472158	rs10800309	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q23.3	NR	rs10800309-?	NR	6E-37	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1816	chr1	161472157	161472158	rs10800309	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	1q23.3	FCGR2A, FCGR2C	rs10800309-A	NR	3E-9		1.23	[NR]	Illumina [266047]	N
1816	chr1	161479744	161479745	rs1801274	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q23.3	NR	rs1801274-A	0.5	1E-41	(EA)	1.1863672		Affymetrix, Illumina [~ 9000000] (imputed)	N
1816	chr1	161479744	161479745	rs1801274	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q23.3	NR	rs1801274-A	0.5	9E-36	(EA)	1.1334659		Affymetrix, Illumina [~ 9000000] (imputed)	N
1816	chr1	161479744	161479745	rs1801274	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q23.3	NR	rs1801274-G	0.5	9E-11	(EA)	1.0816648		Affymetrix, Illumina [~ 9000000] (imputed)	N
1816	chr1	161479744	161479745	rs1801274	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	1q23.3	FCGR2A	rs1801274-?	NR	9E-6				Illumina [NR]	N
1816	chr1	161479744	161479745	rs1801274	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1q23.3	FCGR2A, FCGR3A, FCGR2B, HSPA6, FCGR3B, FCRLA	rs1801274-A	0.509	2E-38		1.124	[1.092-1.157]	Affymetrix, Illumina [1230000] (imputed)	N
1816	chr1	161479744	161479745	rs1801274	22081228	Khor CC	2011-11-13	Nat Genet	Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.	Kawasaki disease	405 European ancestry cases, 6,252 European ancestry controls	605 European ancestry cases and 1,349 European ancestry controls from 740 families, 135 cases and 270 controls from 135 families, 1,028 East Asian ancestry cases, 1,512 East Asian ancestry controls	1q23.3	FCGR2A	rs1801274-A	0.47	7E-11		1.32	[1.22-1.44]	Illumina [494236]	N
1816	chr1	161479744	161479745	rs1801274	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	1q23.3	FCGR2A, FCGR2B, HSPA6	rs1801274-A	0.51	2E-20		1.21	[1.16-1.26]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1816	chr1	161479744	161479745	rs1801274	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	1q23.3	FCGR2A	rs1801274-?	0.78	2E-12		1.59	[1.39-1.82]	Illumina [513923]	N
1817	chr1	161484209	161484210	rs368433	23652523	Mayerle J	2013-05-08	JAMA	Identification of genetic loci associated with Helicobacter pylori serologic status.	Helicobacter pylori serologic status	2,623 European ancestry high titer cases, 7,862 European ancestry low or no titer controls	NA	1q23.3	FCGR2A, HSPA6	rs368433-C	0.84	2E-8		1.37	[1.23-1.54]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1817	chr1	161540856	161540857	rs67418890	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	1q23.3	FCGR2A, FCGR2B	rs67418890-?	NR	1E-10	(XL-HDL-CE)	0.19	[0.13-0.25] unit increase	Illumina [~ 7700000] (imputed)	N
1818	chr1	161659800	161659801	rs114931935	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis in chronic obstructive pulmonary disease	1,662 European ancestry cases, 3,777 European ancestry controls	NA	1q23.3	ATF6, RPL31P11	rs114931935-A	0.04	5E-7		1.88	[1.47-2.40]	Illumina [NR] (imputed)	N
1819	chr1	161826614	161826615	rs3767633	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q23.3	NR	rs3767633-T	0.145416417670683	8E-6	(IGP39)	0.2053	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
1820	chr1	161915500	161915501	rs10918270	19772629	Latourelle JC	2009-09-22	BMC Med Genet	Genomewide association study for onset age in Parkinson disease.	Parkinson's disease (age of onset)	857 European ancestry familial cases, 440 idiopathic cases	747 European ancestry idiopathic cases	1q23.3	ATF6	rs10918270-A	NR	8E-6		2.26	[NR] years decrease	Illumina, Perlegen [1861750] (imputed)	N
1820	chr1	161946726	161946727	rs2340727	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	1q23.3	DARC	rs2340727-A	NR	2E-23	(WBC)	0.0229	[0.018-0.027] unit increase	Illumina [544917]	N
1820	chr1	161953399	161953400	rs12039519	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1q23.3	NR	rs12039519-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
1820	chr1	161981024	161981025	rs6669543	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs6669543-T	0.258	2E-39		1.46	[1.24-1.68] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1820	chr1	161991236	161991237	rs4656345	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs4656345-A	0.085	1E-19		4.73	[3.71-5.75] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1821	chr1	162014631	162014632	rs2880058	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	1q23.3	NOS1AP	rs2880058-G	0.32	2E-10		0.19	[0.13-0.25] unit increase	Illumina [~ 318327]	N
1821	chr1	162033889	162033890	rs12143842	25055868	Sano M	2014-07-23	Hum Mol Genet	Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.	Electrocardiographic traits	2,994 Japnese ancestry individuals	6,805 Korean ancestry individuals	1q23.3	NOS1AP	rs12143842-T	0.39	4E-18	(QT)	3.888	[NR] unit increase	Illumina [~ 2500000]	N
1821	chr1	162033889	162033890	rs12143842	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs12143842-T	0.24	1E-213		3.5	[3.28-3.72] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1821	chr1	162033889	162033890	rs12143842	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	1q23.3	NOS1AP	rs12143842-C	0.80	2E-15		3.14	[2.38-3.90] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1821	chr1	162033889	162033890	rs12143842	19587794	Nolte IM	2009-07-09	PLoS One	Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.	QT interval	3,558 European ancestry individuals	29,527 European ancestry individuals	1q23.3	NOS1AP, OLFML2B	rs12143842-T	0.25	1E-83		0.18	[NR] unit increase	Affymetrix, Illumina [~ 2399142] (imputed)	N
1821	chr1	162033889	162033890	rs12143842	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	1q23.3	NOS1AP	rs12143842-T	0.24	2E-78		2.88	[2.43-3.33] ms increase	Affymetrix, Illumina [2557000] (imputed)	N
1821	chr1	162033889	162033890	rs12143842	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	1q23.3	NOS1AP	rs12143842-T	0.26	2E-78		3.15	[2.81-3.49] msec increase	Affymetrix, Illumina [up to 2543686] (imputed)	N
1821	chr1	162085308	162085309	rs1415259	20062061	Chambers JC	2010-01-10	Nat Genet	Genetic variation in SCN10A influences cardiac conduction.	Electrocardiographic traits	6,543 Indian Asian ancestry individuals	6,243 Indian Asian ancestry individuals, 5,370 European ancestry individuals	1q23.3	NOS1AP	rs1415259-A	0.39	7E-10	(QTc interval)	2.53	[1.73-3.33] ms decrease	Illumina [303309]	N
1821	chr1	162085684	162085685	rs10494366	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	1q23.3	NOS1AP	rs10494366-G	0.39	5E-22	(QT interval)	12.2	[9.72-14.68] % s.d. increase	Illumina [306060]	N
1821	chr1	162085684	162085685	rs10494366	16648850	Arking DE	2006-04-30	Nat Genet	A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.	QT interval	100 European ancestry > 445ms female individuals, 100 European ancestry < 386ms female individuals	200 European ancestry > 85th pct female individuals, 200 European ancestry < 15th pct female individuals, 4,451 European ancestry individuals	1q23.3	NOS1AP	rs10494366-?		1E-10				Affymetrix [88500]	N
1821	chr1	162089317	162089318	rs76662883	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q23.3	NOS1AP	rs76662883-A	0.0060	9E-6	(Hip circumference )	0.03	[NR] cm increase	Illumina [899892]	N
1821	chr1	162112909	162112910	rs16857031	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs16857031-G	0.132	7E-61		2.37	[2.1-2.64] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1821	chr1	162112909	162112910	rs16857031	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	1q23.3	NOS1AP	rs16857031-G	0.14	1E-34		2.63	[2.28-2.97] msec increase	Affymetrix, Illumina [up to 2543686] (imputed)	N
1821	chr1	162133116	162133117	rs12029454	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	1q23.3	NOS1AP	rs12029454-A	0.15	3E-45		2.98	[2.63-3.32] msec increase	Affymetrix, Illumina [up to 2543686] (imputed)	N
1822	chr1	162168153	162168154	rs17457880	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs17457880-A	0.055	3E-10		1.9	[1.31-2.49] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1822	chr1	162179631	162179632	rs4657172	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs4657172-C	0.125	1E-8		0.81	[0.54-1.08] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1822	chr1	162182676	162182677	rs3934467	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs3934467-T	0.222	3E-129		2.74	[2.52-2.96] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1822	chr1	162191102	162191103	rs7545047	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs7545047-A	0.049	9E-14		1.78	[1.31-2.25] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1822	chr1	162195737	162195738	rs4657175	22726844	Kim JW	2012-06-20	Am J Hum Genet	A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval.	QT interval	6,805 Korean ancestry individuals	7,373 East Asian ancestry individuals	1q23.3	NOS1AP	rs4657175-?	NR	1E-9		1.709	[1.156-2.261] ms increase	Affymetrix [352228]	N
1822	chr1	162210609	162210610	rs4657178	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	1q23.3	NOS1AP	rs4657178-T	0.33	7E-33		2.19	[1.76-2.62] ms increase	Affymetrix, Illumina [2557000] (imputed)	N
1822	chr1	162261825	162261826	rs17460657	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs17460657-C	0.045	3E-16		4.6	[3.5-5.7] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1823	chr1	162304275	162304276	rs347313	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index (change over time)	2,643 Bangladeshi ancestry females, 2,340 Bangladeshi ancestry males	NA	1q23.3	NOS1AP	rs347313-G	0.322	2E-8	(females)	0.249	[0.16-0.34] unit increase	Illumina [1208102] (imputed)	N
1823	chr1	162318497	162318498	rs347272	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs347272-A	0.132	1E-37		1.8	[1.53-2.07] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1823	chr1	162319523	162319524	rs11577628	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		1q23.3	NOS1AP	rs11577628-A	0.92	5E-6		0.123	[0.07-0.176] unit decrease	Illumina [~ 2400000] (imputed)	N
1823	chr1	162381287	162381288	rs164133	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q23.3	NOS1AP	rs164133-C	0.264	3E-11		0.72	[0.5-0.94] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1827	chr1	162821290	162821291	rs1912453	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	1q23.3	C1orf110	rs1912453-?	0.41	9E-6		1.07	[1.04-1.11]	Affymetrix, Illumina [2708280] (imputed)	N
1828	chr1	163053288	163053289	rs2063142	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (rapamycin)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	1q23.3	RGS4, RGS5	rs2063142-?	NR	4E-6		0.29	[NR] unit decrease	Affymetrix, Illumina [1348798]	N
1829	chr1	163075020	163075021	rs1507740	22550155	Edelstein LC	2012-05-01	Circulation	Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress.	Platelet thrombus formation	125 European ancestry individuals, 116 African American individuals	NA	1q23.3	intergenic	rs1507740-?	NR	5E-6	(AA)	0.013215	[0.0076-0.0189] unit increase	Illumina [at least 620901]	N
1829	chr1	163142554	163142555	rs12035879	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	1q23.3	RGS5	rs12035879-A	0.419	4E-6		0.048	[0.028-0.068] unit increase	Illumina [747076]	N
1829	chr1	163165028	163165029	rs2662776	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	1q23.3	RGS5	rs2662776-A	0.467	3E-6		0.066	[0.015-0.117] unit increase	Illumina [6391392] (imputed)	N
1831	chr1	163441285	163441286	rs4076764	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	1q23.3	RGS5	rs4076764-T	0.649	3E-9		0.033	[0.022-0.044] unit increase	Illumina [7428049] (imputed)	N
1832	chr1	163500710	163500711	rs3001089	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (moderate to severe)	5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls	2,651 cases and their relatives	1q23.3	NUF2	rs3001089-?	NR	5E-7	(AA)			Illumina [up to 701491] (imputed)	N
1834	chr1	163727922	163727923	rs7521492	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q23.3	NR	rs7521492-A	NR	4E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1835	chr1	163956502	163956503	rs424950	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Sex hormone-binding globulin levels	1,598 European ancestry female individuals	NA	1q23.3	intergenic	rs424950-C	0.48	5E-6		0.076	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
1841	chr1	164689761	164689762	rs1387389	23319801	Rafiq S	2013-01-14	Cancer Res	Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.	Breast cancer (prognosis)	536 European ancestry early-onset cases	1,516 European ancestry early-onset cases	1q23.3	PBX1	rs1387389-?	0.36	4E-6		1.28	[1.16-1.43]	Illumina [487496]	N
1841	chr1	164739170	164739171	rs6670655	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Height	1,792 Filipino ancestry females	NA	1q23.3	PBX1	rs6670655-T	0.18	3E-6		1.26	[0.74-1.78] cm increase	Affymetrix [2073674] (imputed)	N
1844	chr1	165107978	165107979	rs60624478	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	1q23.3	LMX1A, PBX1	rs60624478-A	NR	6E-6	(PhysVAS)	1.17	[0.66-1.68] unit increase	Illumina [586062]	N
1845	chr1	165180088	165180089	rs1532815	21177773	Moyer AM	2010-12-22	Toxicol Sci	Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study.	Response to acetaminophen (hepatotoxicity)	60 European ancestry lymphoblastoid cell lines, 56 African American lymphoblastoid cell lines, 60 Han Chinese American lymphoblastoid cell lines	NA	1q23.3	LMX1A	rs1532815-?	0.34	6E-7				Affymetrix, Illumina [1348864]	N
1846	chr1	165394881	165394882	rs466639	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1q23.3	RXRG	rs466639-C	0.87	2E-24		0.08	[0.066-0.094] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1846	chr1	165394881	165394882	rs466639	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	1q23.3	RXRG	rs466639-T	0.13	1E-13		4.2	[3.02-5.38] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1846	chr1	165403902	165403903	rs285480	21368711	Alliey-Rodriguez N	2011-03-02	Psychiatr Genet	Genome-wide association study of personality traits in bipolar patients.	Personality traits in bipolar disorder	1,951 European ancestry cases	NA	1q23.3	RXRG	rs285480-?	NR	4E-7	(ZKPQ-sensation seeking)			Affymetrix [702866]	N
1846	chr1	165409094	165409095	rs10800098	19754311	Le Clerc S	2009-09-15	J Infect Dis	Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).	AIDS	85 European ancestry cases, 2,049 European ancestry controls	NA	1q23.3	RXRG	rs10800098-A	0.05	4E-6		3.29	[2.08-5.20]	Illumina [291119]	N
1847	chr1	165448156	165448157	rs10918196	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	1q23.3	LOC400794	rs10918196-C	0.41	9E-6		93.94	[NR] unit increase	Illumina [2380200] (imputed)	N
1848	chr1	165616587	165616588	rs6686643	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	1q24.1	MGST3	rs6686643-?	NR	7E-6		0.003	[NR] unit increase	Illumina [478011]	N
1849	chr1	165687204	165687205	rs4656461	25173105	Gharahkhani P	2014-08-31	Nat Genet	Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,155 European ancestry cases, 1,922 European ancestry controls	3,548 European ancestry cases, 9,496 European ancestry controls	1q24.1	TMCO1	rs4656461-G	NR	5E-13		1.38	[1.30-1.46]	Illumina [7594768] (imputed)	N
1849	chr1	165687204	165687205	rs4656461	21532571	Burdon KP	2011-05-01	Nat Genet	Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.	Glaucoma	590 European ancestry cases, 3,956 European ancestry controls	892 European ancestry advanced cases, 4,582 European ancestry less severe cases	1q24.1	TMCO1	rs4656461-G	0.12	6E-14		1.51	[1.35-1.68]	Illumina [298778]	N
1849	chr1	165718978	165718979	rs7555523	25173106	Hysi PG	2014-08-31	Nat Genet	Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.	Intraocular pressure	7,738 Asian ancestry individuals, 27,558 European ancestry individuals	NA	1q24.1	TMCO1	rs7555523-C	NR	2E-9		0.235	[0.16-0.31] mm Hg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1849	chr1	165718978	165718979	rs7555523	22570627	van Koolwijk LM	2012-05-03	PLoS Genet	Common genetic determinants of intraocular pressure and primary open-angle glaucoma.	Intraocular pressure	11,972 European ancestry individuals	7,482 European ancestry individuals	1q24.1	TMCO1	rs7555523-C	0.12	2E-8		0.28	[0.18-0.37] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1849	chr1	165736879	165736880	rs7518099	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	1q24.1	TMCO1	rs7518099-G	0.14	8E-8		0.94	[0.55-1.33] mmHg increase	Illumina [466573]	N
1850	chr1	165831648	165831649	rs4657482	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	1q24.1	UCK2	rs4657482-A	NR	6E-6		1.43	[1.22-1.67]	Illumina [NR]	N
1850	chr1	165831648	165831649	rs4657482	19483681	Rapley EA	2009-05-31	Nat Genet	A genome-wide association study of testicular germ cell tumor.	Testicular germ cell tumor	730 cases, 1,435 controls	571 cases, 1,806 controls	1q24.1	intergenic	rs4657482-A	0.33	2E-6		1.14	[0.99-1.31]	Illumina [307666]	N
1850	chr1	165873391	165873392	rs3790672	25877299	Kristiansen W	2015-04-15	Hum Mol Genet	Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.	Testicular germ cell tumor	1,326 European ancestry cases, 6,687 European ancestry controls	710 European ancestry case-parent triads, 289 European ancestry cases, 290 European ancestry controls	1q24.1	UCK2	rs3790672-C	0.281	2E-7		1.23	[NR]	Illumina [610240]	N
1850	chr1	165873391	165873392	rs3790672	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	1q24.1	UCK2	rs3790672-C	0.28	2E-8		1.2	[1.09-1.33]	Illumina [307291]	N
1856	chr1	166669935	166669936	rs513088	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q24.1	NR	rs513088-G	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1857	chr1	166794216	166794217	rs2312236	25456346	Nievergelt CM	2014-10-30	Psychoneuroendocrinology	Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.	Post-traumatic stress disorder	940 European, Hispanic, Native American, African American, East Asian and other ancestry cases, 2,554 European, Hispanic, Native American, African American, East Asian and other ancestry trauma-exposed controls	313 European ancestry cases, 178 European ancestry trauma-exposed controls	1q24.1	POGK	rs2312236-T	0.056	3E-6	(Hispanic)	3.31	[2.81-3.81]	Illumina [21693469] (imputed)	N
1858	chr1	166861595	166861596	rs1040393	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q24.1	NR	rs1040393-C	NR	7E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1858	chr1	166951868	166951869	rs6688613	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	1q24.1	MAEL	rs6688613-T	0.24	3E-6	(EA, less than 25 years)	1.309	[1.170-1.465]	Affymetrix, Illumina [NR] (imputed)	N
1859	chr1	167046454	167046455	rs73028893	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1q24.1	NR	rs73028893-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
1860	chr1	167156499	167156500	rs9803659	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	1q24.1	POU2F1	rs9803659-C	NR	4E-6	(ALT)	0.03	[0.018-0.042] U/L decrease	Affymetrix, Illumina [up to 496032]	N
1862	chr1	167408669	167408670	rs840016	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	1q24.2	CD247	rs840016-C	0.58	2E-6		1.11	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1862	chr1	167411383	167411384	rs864537	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	1q24.2	CD247	rs864537-?	NR	2E-11				Illumina [472854]	N
1862	chr1	167411383	167411384	rs864537	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	1q24.2	CD247	rs864537-?	0.61	4E-7		1.1	[1.06-1.15]	Illumina [292387]	N
1862	chr1	167420424	167420425	rs2056626	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	1q24.2	CD247	rs2056626-?	NR	3E-6	(IcSSc)	1.23	[1.12-1.33]	Illumina [NR] (imputed)	N
1862	chr1	167420424	167420425	rs2056626	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	1q24.2	CD247	rs2056626-T	0.61	1E-6		1.2	[1.12-1.30]	Illumina [489814]	N
1862	chr1	167420424	167420425	rs2056626	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	1q24.2	CD247	rs2056626-?	0.59	3E-9		1.16	[1.11-1.23]	Illumina [279621]	N
1864	chr1	167718498	167718499	rs4145462	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	1q24.2	MPZL1	rs4145462-T	0.05	1E-6				Affymetrix [614963]	N
1865	chr1	167903078	167903079	rs10489202	22037555	Shi Y	2011-10-30	Nat Genet	Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.	Schizophrenia	3,750 Han Chinese ancestry cases, 6,468 Han Chinese ancestry controls	4,383 Han Chinese ancestry cases, 4,539 Han Chinese ancestry controls	1q24.2	BRP44, DCAF6	rs10489202-A	0.141	1E-8		1.23	[1.15-1.32]	Affymetrix [546561]	N
1870	chr1	168475009	168475010	rs72637224	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	1q24.2	XCL2	rs72637224-T	NR	3E-7	(Perc15, All)	3.6	[1.25-5.95] unit increase	Illumina [7600000] (imputed)	N
1870	chr1	168494993	168494994	rs75565482	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	1q24.2	XCL2	rs75565482-A	NR	1E-6	(Perc15, Cases)	5.1	[1.96-8.24] unit increase	Illumina [7600000] (imputed)	N
1871	chr1	168618640	168618641	rs1412337	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Morbidity-free survival	558 individuals	NA	1q24.2	DPT	rs1412337-?	NR	2E-9				Affymetrix [70897]	N
1871	chr1	168632982	168632983	rs7518687	25705159	Hong Y	2014-12-31	Genomics Inform	Genome-wide association study of hepatitis in korean populations.	Hepatitis	1,500 Korean ancestry cases, 1,500 Korean ancestry controls	NA	1q24.2	intergenic	rs7518687-A	NR	1E-10		1.19	[NR]	NR [352000]	N
1872	chr1	168689939	168689940	rs545833	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q24.2	ATP1B1	rs545833-T	0.266	4E-17		0.9	[0.68-1.12] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1872	chr1	168720620	168720621	rs7534485	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1q24.2	DPT, LOC391132	rs7534485-G	0.464	8E-6		2.2	[1.55-3.13]	Illumina [1556551]	N
1873	chr1	168942828	168942829	rs10800398	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	1q24.2	ATP1B1	rs10800398-?	NR	8E-6	(Males)		[NR]	Illumina [283437]	N
1874	chr1	169070449	169070450	rs12061601	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q24.2	ATP1B1	rs12061601-C	0.117	3E-21		1.41	[1.12-1.7] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1874	chr1	169073345	169073346	rs1320976	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	1q24.2	ATP1B1	rs1320976-A	0.25	2E-10		2.06	[1.43-2.69] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1875	chr1	169099036	169099037	rs10919070	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q24.2	ATP1B1	rs10919070-C	0.126	1E-31		1.68	[1.41-1.95] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1875	chr1	169099482	169099483	rs10919071	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	1q24.2	ATP1B1	rs10919071-A	0.87	1E-15		2.05	[1.48-2.62] ms increase	Affymetrix, Illumina [2557000] (imputed)	N
1875	chr1	169100094	169100095	rs11809180	25055868	Sano M	2014-07-23	Hum Mol Genet	Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.	Electrocardiographic traits	2,994 Japnese ancestry individuals	6,805 Korean ancestry individuals	1q24.2	ATP1B1	rs11809180-G	0.335	1E-6	(QT)			Illumina [~ 2500000]	N
1875	chr1	169101059	169101060	rs12079745	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q24.2	ATP1B1	rs12079745-A	0.059	1E-10		1.34	[0.93-1.75] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1875	chr1	169135126	169135127	rs16861990	22672568	Heit JA	2012-06-05	J Thromb Haemost	A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.	Venous thromboembolism	1,503 European and other ancestry cases, 1,459 European and other ancestry controls	1,407 cases, 1,418 controls	1q24.2	NME7	rs16861990-C	0.099	2E-12		2.02	[1.66-2.45]	Illumina [~ 2500000] (imputed)	N
1875	chr1	169135126	169135127	rs16861990	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	1q24.2	NME7	rs16861990-C	0.061	2E-6		0.0614	[NR] % increase	Affymetrix, Illumina [2522393] (imputed)	N
1877	chr1	169446182	169446183	rs1983546	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q24.2	ATP1B1	rs1983546-G	0.348	1E-15		0.81	[0.61-1.01] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1878	chr1	169477573	169477574	rs6687813	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	1q24.2	F5	rs6687813-A	0.06	2E-14		10.1	[2.7-17.9] % increase	Affymetrix, Illumina [2522393] (imputed)	N
1878	chr1	169481222	169481223	rs6427196	23650146	Tang W	2013-05-05	Genet Epidemiol	A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Venous thromboembolism	1,618 European ancestry cases, 42,881 European ancestry controls	3,231 European ancestry cases, 3,536 European ancestry controls	1q24.2	F5	rs6427196-C	0.93	4E-51		2.07	[1.89-2.28]	Affymetrix, Illumina [2543885] (imputed)	N
1878	chr1	169491554	169491555	rs2420371	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	1q24.2	F5	rs2420371-G	0.18	4E-80	(ACVn ratio)	1.16	[1.04-1.28] unit decrease	Illumina [472123]	N
1878	chr1	169498974	169498975	rs6030	23703922	Li WD	2013-01-02	Obesity (Silver Spring)	A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.	Uric acid levels	487 European ancestry obese individuals, 472 non-obese individuals	NA	1q24.2	F5	rs6030-?	NR	3E-6	(Obese)			Illumina [~ 550000]	N
1878	chr1	169511754	169511755	rs4524	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls	1q24.2	F5	rs4524-T	0.736	3E-11		1.2	[1.14-1.26]	Affymetrix, Illumina [6751884] (imputed)	N
1878	chr1	169514005	169514006	rs1018827	21980494	Germain M	2011-09-27	PLoS One	Genetics of venous thrombosis: insights from a new genome wide association study.	Venous thromboembolism	1,542 European ancestry cases, 1,110 European ancestry controls	NA	1q24.2	NME7, SLC19A2, F5	rs1018827-A	0.12	2E-26		2.52	[NR]	Illumina [481002]	N
1878	chr1	169519048	169519049	rs6025	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q24.2	SELP, SELE, SELL	rs6025-G	0.97	3E-8	(EA)	1.1942284		Affymetrix, Illumina [~ 9000000] (imputed)	N
1878	chr1	169519048	169519049	rs6025	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls	1q24.2	F5	rs6025-T	0.033	1E-96		3.25	[2.91-3.64]	Affymetrix, Illumina [6751884] (imputed)	N
1878	chr1	169519048	169519049	rs6025	22672568	Heit JA	2012-06-05	J Thromb Haemost	A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.	Venous thromboembolism	1,503 European and other ancestry cases, 1,459 European and other ancestry controls	1,407 cases, 1,418 controls	1q24.2	F5	rs6025-T	0.063	2E-22		3.57	[2.76-4.60]	Illumina [~ 2500000] (imputed)	N
1878	chr1	169543130	169543131	rs12406092	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	1q24.2	F5	rs12406092-A	0.3	3E-9		0.028	[0.018-0.038] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1878	chr1	169543130	169543131	rs12406092	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	1q24.2	F5	rs12406092-A	0.3	2E-6	(EA)	0.027	[0.015-0.039] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1878	chr1	169550962	169550963	rs6703865	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	1q24.2	SELP, F5	rs6703865-A	0.08	1E-9	(Hippocampal volume)			Illumina [2131250] (imputed)	N
1878	chr1	169551681	169551682	rs6028	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	1q24.2	SELP, F5	rs6028-C	NR	3E-9		0.226	[0.14-0.31] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1878	chr1	169563950	169563951	rs6136	20167578	Barbalic M	2010-02-18	Hum Mol Genet	Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.	Soluble levels of adhesion molecules	Up to 9,813 European ancestry individuals	NA	1q24.2	SELP	rs6136-T	NR	4E-61	(P-Selectin)	22.6	[19.86-25.34] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1878	chr1	169580289	169580290	rs2235302	20167578	Barbalic M	2010-02-18	Hum Mol Genet	Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.	Soluble levels of adhesion molecules	Up to 9,813 European ancestry individuals	NA	1q24.2	SELP	rs2235302-T	NR	4E-16	(P-Selectin)	7.3	[5.54-9.06] % decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1879	chr1	169608916	169608917	rs1569476	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	1q24.2	SELP	rs1569476-?	NR	3E-7		0.003	[NR] unit increase	Illumina [478011]	N
1879	chr1	169651043	169651044	rs7531806	24399259	He L	2014-01-07	Nat Commun	Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne.	Acne (severe)	1,031 Han Chinese ancestry cases, 1,031 Han Chinese ancestry controls	1,860 Han Chinese ancestry cases, 3,660 Han Chinese ancestry controls	1q24.2	SELL	rs7531806-A	0.4207	1E-8	(fixed effect model)	1.22	[1.12-1.28]	Illumina [809305]	N
1881	chr1	169995801	169995802	rs1541160	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	1q24.2	KIFAP3	rs1541160-C	NR	2E-8	(survival)	0.58	[0.38-0.78] years increase	Illumina [288357]	N
1882	chr1	170128607	170128608	rs495524	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	1q24.2	intergenic	rs495524-T	0.42	2E-6			[NR]	Affymetrix [398699]	N
1884	chr1	170372502	170372503	rs10919388	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.2	GORAB	rs10919388-C	0.7226	3E-9	(EA)	0.0239	[0.016-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1884	chr1	170372502	170372503	rs10919388	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.2	GORAB	rs10919388-C	0.7211	5E-10	(EA, women)	0.0326	[0.022-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1884	chr1	170372502	170372503	rs10919388	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.2	GORAB	rs10919388-C	0.7203	2E-10		0.0246	[0.017-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1884	chr1	170372502	170372503	rs10919388	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.2	GORAB	rs10919388-C	0.7189	5E-11	(women)	0.0334	[0.023-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1886	chr1	170569316	170569317	rs3903239	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	1q24.2	PRRX1	rs3903239-G	0.45	8E-14		1.14	[1.10-1.17]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1886	chr1	170633895	170633896	rs659580	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	1q24.2	PRRX1	rs659580-T	NR	1E-6	(EA)	1.28	[0.71-1.85] unit increase	Affymetrix [~ 2300000] (imputed)	N
1888	chr1	170906757	170906758	rs184483498	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	1q24.3	NR	rs184483498-A	0.071	8E-6		2.53	[1.68-3.80]	Illumina [7261187] (imputed)	N
1889	chr1	170966011	170966012	rs28588043	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	1q24.3	NR	rs28588043-?		4E-6		0.16	unit increase	Illumina [1211988] (imputed)	N
1890	chr1	171080614	171080615	rs7061710	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	1q24.3	FMO3	rs7061710-C	0.23	8E-14	(X-11786--methylcysteine)	0.045	[0.033-0.057] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1890	chr1	171091874	171091875	rs1795240	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	1q24.3	FMO3, FMO6P	rs1795240-A	0.43	5E-8		112.27	[NR] unit decrease	Illumina [2380200] (imputed)	N
1891	chr1	171261192	171261193	rs6660565	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	1q24.3	FMO1	rs6660565-?	0.72	2E-6	(Dominant)	1.12	[1.07-1.18]	Affymetrix [319222]	N
1892	chr1	171356248	171356249	rs10912872	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	1q24.3	NR	rs10912872-?	NR	3E-8		0.1102	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1893	chr1	171557599	171557600	rs2421847	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		1q24.3	PRRC2C	rs2421847-?	0.04	9E-7		0.26	unit decrease	Illumina [NR] (imputed)	N
1894	chr1	171652977	171652978	rs11799420	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal atrophy	325 European ancestry older adult individuals	NA	1q24.3	VAMP4	rs11799420-?		4E-6				Affymetrix [at least 734550] (imputed)	N
1896	chr1	171949749	171949750	rs10914144	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	1q24.3	DNM3	rs10914144-T	NR	2E-8		0.11	[NR] unit increase	Illumina [476395]	N
1896	chr1	171949749	171949750	rs10914144	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	1q24.3	DNM3	rs10914144-T	NR	2E-12		3.417	[2.46-4.37] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1896	chr1	171949749	171949750	rs10914144	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	1q24.3	DNM3	rs10914144-C	NR	1E-24		0.014	[0.012-0.016] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1896	chr1	171949749	171949750	rs10914144	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	1q24.3	DNM3	rs10914144-C	NR	2E-14		0.01	[0.009-0.017] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1897	chr1	172053286	172053287	rs17346452	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1q24.3	DNM3	rs17346452-T	0.73	1E-23		0.04	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1897	chr1	172083880	172083881	rs6694089	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1q24.3	DNM3	rs6694089-A	0.279	4E-33		0.039	[0.033-0.045] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1898	chr1	172189888	172189889	rs678962	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	1q24.3	DNM3	rs678962-G	0.22	3E-8		5.4	[3.44-7.36] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1898	chr1	172193819	172193820	rs12410416	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	1q24.3	DNM3	rs12410416-T	0.69	2E-10		0.028	[0.016-0.04] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1898	chr1	172199572	172199573	rs479336	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	1q24.3	DNM3	rs479336-T	0.74	9E-15	(FNBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1898	chr1	172219994	172219995	rs12075079	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	1q24.3	DNM3	rs12075079-G	0.21	7E-12		1.2	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1899	chr1	172241250	172241251	rs2421992	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1q24.3	DNM3	rs2421992-?	NR	5E-8	(Conditioned on rs17346452)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1899	chr1	172346547	172346548	rs1011731	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	1q24.3	PIGC, DNM3	rs1011731-G	0.43	1E-17		0.03	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
1899	chr1	172348950	172348951	rs12077769	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	1q24.3	DNM3	rs12077769-A	NR	4E-6		4.631	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1899	chr1	172352989	172352990	rs714515	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.3	DNM3, PIGC	rs714515-G	0.4369	1E-15		0.0272	[0.021-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1899	chr1	172352989	172352990	rs714515	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.3	DNM3, PIGC	rs714515-G	0.4352	9E-11	(women)	0.029	[0.02-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1899	chr1	172352989	172352990	rs714515	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.3	DNM3, PIGC	rs714515-G	0.4334	3E-7	(men)	0.025	[0.015-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1899	chr1	172352989	172352990	rs714515	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.3	DNM3, PIGC	rs714515-G	0.43	9E-7	(EA, men)	0.0247	[0.015-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1899	chr1	172352989	172352990	rs714515	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.3	DNM3, PIGC	rs714515-G	0.4285	4E-15	(EA)	0.027	[0.02-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1899	chr1	172352989	172352990	rs714515	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q24.3	DNM3, PIGC	rs714515-G	0.4271	2E-10	(EA, women)	0.0289	[0.02-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1902	chr1	172710999	172711000	rs859637	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	1q24.3	TNFSF18, TNFSF4, FASLG	rs859637-A	0.49	2E-6		1.1	[1.06-1.14]	Illumina [292387]	N
1903	chr1	172844351	172844352	rs6425143	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q24.3	NR	rs6425143-?	NR	3E-22	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1903	chr1	172853459	172853460	rs7517810	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q24.3	NR	rs7517810-A	0.2361	1E-7	(EA)	1.0629416	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1903	chr1	172853459	172853460	rs7517810	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	1q24.3	TNFSF18, TNFSF4, FASLG	rs7517810-T	0.246	2E-15		1.22	[1.16-1.28]	Affymetrix, Illumina [953241] (imputed)	N
1903	chr1	172862233	172862234	rs9286879	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	1q24.3	TNFSF18, FASLG	rs9286879-G	0.249	6E-22		1.125	[1.083-1.167]	Affymetrix, Illumina [1230000] (imputed)	N
1903	chr1	172862233	172862234	rs9286879	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	1q24.3	intergenic	rs9286879-G	0.24	2E-9		1.19	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1903	chr1	172863947	172863948	rs2157453	24999842	Garner C	2014-07-07	PLoS One	Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.	Celiac disease	1,550 European ancestry cases, 3,084 European ancestry controls	NA	1q24.3	TNFSF18, TNFSF4, FASLG	rs2157453-?	NR	8E-7		1.29	[1.17-1.42]	Illumina [517345]	N
1904	chr1	172898376	172898377	rs12035082	17554261	Parkes M	2007-06-06	Nat Genet	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.	Crohn's disease	1,748 cases, 2,938 controls	1,182 European ancestry cases, 2,024 European ancestry controls	1q24.3	intergenic	rs12035082-?	0.40	2E-7		1.14	[1.02-1.27]	Affymetrix [see WTCCC]	N
1906	chr1	173191474	173191475	rs2205960	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	1q25.1	TNFSF4	rs2205960-T	0.25	3E-12		1.36		Illumina [2100739] (imputed)	N
1906	chr1	173191474	173191475	rs2205960	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	1q25.1	TNFSF4	rs2205960-A	0.27	3E-32		1.46	[1.37-1.56]	Illumina [493955]	N
1906	chr1	173226194	173226195	rs704840	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	1q25.1	TNFSF4	rs704840-?	NR	4E-7		1.182	[NR]	Illumina [NR]	N
1907	chr1	173284198	173284199	rs4916321	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		1q25.1	AK127238	rs4916321-?		7E-6	(Cluxel size)			Illumina [208975]	N
1907	chr1	173300839	173300840	rs17346536	25881214	Shah AA	2015-02-27	Heart Surg Forum	Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.	Vein graft stenosis in coronary artery bypass grafting	361 European ancestry cases, 160 European ancestry controls	NA	1q25.1	TNFSF4	rs17346536-G	0.42	9E-6				Illumina [905781]	N
1907	chr1	173301515	173301516	rs1342038	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	1q25.1	TNFSF4, LOC730070	rs1342038-G	0.64	4E-6		1.49	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
1907	chr1	173309712	173309713	rs10798269	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	1q25.1	intergenic	rs10798269-?	0.64	1E-7		1.22	[1.14-1.32]	Illumina [317501]	N
1907	chr1	173349724	173349725	rs2105325	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1q25.1	LOC100506023	rs2105325-C	0.79	7E-13		1.12	[1.08-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1907	chr1	173349724	173349725	rs2105325	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	1q25.1	LOC100506023	rs2105325-C	0.74	3E-11	(EA)	1.12	[1.08-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1912	chr1	174015260	174015261	rs61826828	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q25.1	NR	rs61826828-A	NR	9E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1916	chr1	174552810	174552811	rs17301853	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	1q25.1	intergenic	rs17301853-?	0.88	1E-6		1.16	[1.1-1.25]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1916	chr1	174552810	174552811	rs17301853	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	1q25.1	intergenic	rs17301853-?	0.88	7E-6		1.19	[1.1-1.28]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1921	chr1	175120078	175120079	rs6701037	21703634	Wang KS	2011-06-22	J Psychiatr Res	A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.	Alcohol dependence	1,283 European ancestry cases, 1,416 European ancestry controls	1,650 European ancestry cases and 1,684 European ancestry controls from 778 nuclear families	1q25.1	KIAA0040	rs6701037-C	0.46	2E-7				Illumina [up to 818773]	N
1922	chr1	175296447	175296448	rs3766680	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	1q25.1	TNR	rs3766680-?	NR	4E-6	(FWLTA)			Affymetrix [70897]	N
1925	chr1	175715605	175715606	rs17312292	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		1q25.1	NR	rs17312292-C		7E-6		0.88	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1931	chr1	176423139	176423140	rs4471226	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	1q25.2	PAPPA2	rs4471226-C	0.1	3E-6		0.097	[0.056-0.138] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
1932	chr1	176565306	176565307	rs909941	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs909941-G,rs10489478-A	NR	5E-6		2.11	[NR]	Illumina [534390]	N
1932	chr1	176566349	176566350	rs10489478	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs909941-G,rs10489478-A	NR	5E-6		2.11	[NR]	Illumina [534390]	N
1932	chr1	176566349	176566350	rs10489478	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs10489478-A,rs240104-G	NR	5E-6		2.11	[NR]	Illumina [534390]	N
1932	chr1	176571430	176571431	rs240104	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs10489478-A,rs240104-G	NR	5E-6		2.11	[NR]	Illumina [534390]	N
1932	chr1	176589731	176589732	rs12139318	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs12139318-C,rs3795320-C	NR	6E-6		2.0	[NR]	Illumina [534390]	N
1932	chr1	176591290	176591291	rs3795320	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs12139318-C,rs3795320-C	NR	6E-6		2.0	[NR]	Illumina [534390]	N
1932	chr1	176603839	176603840	rs7529392	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs7529392-A,rs12133739-A	NR	3E-6			[NR]	Illumina [534390]	N
1932	chr1	176604563	176604564	rs12133739	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs7529392-A,rs12133739-A	NR	3E-6			[NR]	Illumina [534390]	N
1932	chr1	176604563	176604564	rs12133739	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs12133739-A,rs10913237-A	NR	3E-6		2.173913	[NR]	Illumina [534390]	N
1932	chr1	176630415	176630416	rs10913237	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs12133739-A,rs10913237-A	NR	3E-6		2.173913	[NR]	Illumina [534390]	N
1932	chr1	176630415	176630416	rs10913237	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs10913237-A,rs10798473-G	NR	3E-6		2.1691973	[NR]	Illumina [534390]	N
1932	chr1	176646382	176646383	rs10798473	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs10913237-A,rs10798473-G	NR	3E-6		2.1691973	[NR]	Illumina [534390]	N
1932	chr1	176646999	176647000	rs17546000	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs17546000-A,rs10454444-G	NR	3E-6		2.1691973	[NR]	Illumina [534390]	N
1932	chr1	176649180	176649181	rs10454444	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs17546000-A,rs10454444-G	NR	3E-6		2.1691973	[NR]	Illumina [534390]	N
1932	chr1	176649180	176649181	rs10454444	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs10454444-G,rs726252-G	NR	3E-6		2.1691973	[NR]	Illumina [534390]	N
1932	chr1	176649180	176649181	rs10454444	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs10454444-?	NR	2E-6		2.17	[1.59-3.03]	Illumina [534390]	N
1932	chr1	176660246	176660247	rs726252	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	1q25.2	PAPPA2	rs10454444-G,rs726252-G	NR	3E-6		2.1691973	[NR]	Illumina [534390]	N
1933	chr1	176792248	176792249	rs1325598	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	1q25.2	PAPPA2	rs1325598-A	0.24	5E-11		0.044	[0.03-0.058] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1933	chr1	176792248	176792249	rs1325598	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1q25.2	PAPPA2	rs1325598-A	0.43	1E-9		0.022	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1937	chr1	177280120	177280121	rs6670165	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q25.2	NR	rs6670165-T	NR	5E-8		1.08	[NR]	Illumina [7158791] (imputed)	N
1937	chr1	177280120	177280121	rs6670165	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	1q25.2	FAM5B	rs6670165-T	0.184	4E-8		1.075	[1.047-1.103]	Affymetrix, Illumina [9005918] (imputed)	N
1939	chr1	177568798	177568799	rs16851585	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	1q25.2	intergenic	rs16851585-?	0.08	5E-6	(EA)	1.3	[1.16-1.45]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1940	chr1	177621200	177621201	rs1572511	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	1q25.2	SEC16B	rs1572511-?		3E-6				Illumina [859311]	N
1940	chr1	177722906	177722907	rs12140439	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	1q25.2	SEC16B	rs12140439-C	0.31	1E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
1941	chr1	177766020	177766021	rs75608493	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q25.2	NR	rs75608493-C	NR	3E-7		1.09	[NR]	Illumina [7158791] (imputed)	N
1941	chr1	177852579	177852580	rs633715	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1q25.2	SEC16B	rs633715-C	0.2	7E-20	(Overweight)	1.08	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1941	chr1	177852579	177852580	rs633715	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1q25.2	SEC16B	rs633715-C	0.19	9E-23	(Obesity class I)	1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1941	chr1	177852579	177852580	rs633715	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	1q25.2	SEC16B	rs633715-C	0.19	4E-19	(Obesity class II)	1.19	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1941	chr1	177852579	177852580	rs633715	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	1q25.2	SEC16B	rs633715-C	0.19	5E-12		1.21	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1941	chr1	177852579	177852580	rs633715	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	1q25.2	SEC16B	rs633715-C	0.20	2E-8		2.6	[1.62-3.58] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1941	chr1	177855516	177855517	rs516636	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	1q25.2	SEC16B	rs516636-A	0.22	3E-9		0.05	[0.034-0.066] unit increase	Illumina [2178018] (imputed)	N
1942	chr1	177873209	177873210	rs574367	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	1q25.2	SEC16B	rs574367-T	0.21	2E-19		0.058	[0.045-0.071] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1942	chr1	177889479	177889480	rs543874	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q25.2	SEC16B	rs543874-G	0.195	2E-40		0.05	[0.042-0.057] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1942	chr1	177889479	177889480	rs543874	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q25.2	SEC16B	rs543874-G	0.194	1E-33	(EA, women)	0.06	[0.051-0.07] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1942	chr1	177889479	177889480	rs543874	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q25.2	SEC16B	rs543874-G	0.193	3E-35	(EA)	0.048	[0.041-0.056] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1942	chr1	177889479	177889480	rs543874	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q25.2	SEC16B	rs543874-G	0.192	3E-11	(EA, men)	0.034	[0.024-0.044] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1942	chr1	177889479	177889480	rs543874	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1q25.2	SEC16B	rs543874-A	0.8	1E-15		0.05	[0.038-0.062] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1942	chr1	177889479	177889480	rs543874	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	1q25.2	SEC16B	rs543874-G	0.19	4E-11		0.081	[0.059-0.103] unit increase	Affymetrix, Illumina [557887] (imputed)	N
1942	chr1	177889479	177889480	rs543874	23583978	Monda KL	2013-04-14	Nat Genet	A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.	Body mass index	37,956 African American individuals, 1,188 Nigerian ancestry individuals	27,661 African America/Afro-Caribbean individuals, 4,607 Sub-Saharan African ancestry individuals, 123,706 European ancestry inidividuals	1q25.2	SEC16B	rs543874-G	0.25	2E-13	(AA and Sub-Saharan)	0.06	[0.044-0.076] unit increase	Affymetrix, Illumina [3283202] (imputed)	N
1942	chr1	177889479	177889480	rs543874	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	1q25.2	SEC16B	rs543874-G	0.19	4E-23		0.22	[0.16-0.28] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1942	chr1	177913518	177913519	rs10913469	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	1q25.2	SEC16B, RASAL2	rs10913469-C	0.2	1E-8		3.82	[2.51-5.13] percentage SD increase	Illumina [305846]	N
1942	chr1	177913518	177913519	rs10913469	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	1q25.2	SEC16B, RASAL2	rs10913469-C	0.2	6E-8		3.36	[2.14-4.58] % SD increase	Illumina [305846]	N
1944	chr1	178142207	178142208	rs316274	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	1q25.2	RASAL2	rs316274-?		8E-7	(AA)			Illumina [NR]	N
1946	chr1	178471221	178471222	rs12760731	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q25.2	RASAL2	rs12760731-A	0.062	5E-6	(Weight change )	0.03	[NR] kg/y increase	Illumina [899892]	N
1946	chr1	178491878	178491879	rs12023718	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q25.2	C1orf49	rs12023718-G	0.072	6E-6	(Hip circumference change )	0.03	[NR] cm/y increase	Illumina [899892]	N
1946	chr1	178515311	178515312	rs4650994	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1q25.2	ANGPTL1	rs4650994-G	0.49	7E-9		0.021	[NR] unit increase	NR [NR] (imputed)	N
1951	chr1	179071755	179071756	rs1325195	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	1q25.2	ABL2	rs1325195-A	0.59	5E-6		1.17	[1.10-1.26]	Affymetrix, Illumina [2217510] (imputed)	N
1954	chr1	179469313	179469314	rs12047808	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (age of onset)	978 European ancestry cases, 883 European ancestry controls	NA	1q25.2	C1orf125	rs12047808-?	0.13	6E-6			[NR]	Illumina [551642]	N
1959	chr1	180130722	180130723	rs55946907	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	1q25.2	QSOX1, CEP350	rs55946907-C	0.901	9E-6		0.066	[0.037-0.095] unit decrease	Illumina [6150213] (imputed)	N
1963	chr1	180645440	180645441	rs7527074	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	1q25.3	XPR1	rs7527074-?	NR	9E-6				Affymetrix [786195]	N
1965	chr1	180962281	180962282	rs1411478	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	1q25.3	STX6	rs1411478-?	0.58	4E-11		1.27	[1.19-1.37]	Illumina [531451]	N
1969	chr1	181426909	181426910	rs2332267	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	1q25.3	CACNA1E	rs2332267-T	0.05	8E-6	(AA)	0.42	[0.24-0.6] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1970	chr1	181590857	181590858	rs199950	25378290	McQueen MB	2014-11-07	Behav Genet	The National Longitudinal Study of Adolescent to Adult Health (Add Health) Sibling Pairs Genome-Wide Data.	Body mass index (change over time)	917 European ancestry individuals, 677 African American individuals, 209 Hispanic individuals, 73 Asian ancestry individuals, 8 Native American ancestry individuals, 2 individuals	NA	1q25.3	CACNA1E	rs199950-G	0.31	3E-6		1.0	[0.58-1.42] unit increase	Illumina [717411]	N
1970	chr1	181655751	181655752	rs3845441	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q25.3	NR	rs3845441-C	0.127711492920748	7E-6	(IGP31)	0.2083	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
1973	chr1	182021282	182021283	rs7554182	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	1q25.3	ZNF648	rs7554182-?		6E-8	(AA)	48.5	[NR]	Illumina [936149]	N
1974	chr1	182081959	182081960	rs10911021	23982368	Qi L	2013-08-28	JAMA	Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes.	Cardiovascular heart disease in diabetics	669 European ancestry cases, 1,641 European ancestry controls	848 European ancestry cases, 1,030 European ancestry controls	1q25.3	GLUL, ZNF648	rs10911021-C	0.679	2E-8		1.36	[1.22-1.51]	Affymetrix [2543016]	N
1974	chr1	182144118	182144119	rs2489279	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	1q25.3	ZNF648	rs2489279-C	0.69	4E-9		0.038	[0.026-0.05] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1974	chr1	182168884	182168885	rs1689800	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1q25.3	ZNF648	rs1689800-G	0.35	5E-20		0.034	[NR] unit decrease	NR [NR] (imputed)	N
1974	chr1	182168884	182168885	rs1689800	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	1q25.3	ZNF648	rs1689800-G	0.35	3E-10		0.47	[0.31-0.63] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1977	chr1	182549018	182549019	rs533259	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		1q25.3	RNASEL	rs533259-?		6E-9	(Cluxel size)			Illumina [208975]	N
1980	chr1	182973490	182973491	rs10752881	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	1q25.3	NR	rs10752881-A	0.39	5E-6	(East Asian)	1.07	[1.04-1.10]	Affymetrix, Illumina [2400000] (imputed)	N
1981	chr1	183081193	183081194	rs10911251	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	1q25.3	LAMC1	rs10911251-A	0.57	9E-8		1.09	[1.06-1.13]	Affymetrix, Illumina [2708280] (imputed)	N
1982	chr1	183116530	183116531	rs12565776	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	1q25.3	LAMC1	rs12565776	NR	5E-6				Illumina [NR]	N
1982	chr1	183170947	183170948	rs1028771	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	1q25.3	LAMC2	rs1028771-A	0.97	4E-6		0.2188	[0.13-0.31] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1982	chr1	183176429	183176430	rs525410	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	1q25.3	LAMC2	rs525410-?	0.49	6E-7	(anti-dsDNA +)	1.33	[1.19-1.47]	Illumina [421318] (imputed)	N
1982	chr1	183180259	183180260	rs16860537	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	1q25.3	NMNAT2	rs16860537-?	NR	5E-6	(ACA)	1.496	[NR]	Illumina [NR]	N
1983	chr1	183255907	183255908	rs41314643	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	1q25.3	LAMC1, LAMC2, NMNAT2	rs41314643-C	0.0159	1E-6		5.2714815	[4.6-5.95]	Illumina [8809853] (imputed)	N
1983	chr1	183266181	183266182	rs4652795	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q25.3	NMNAT2	rs4652795-G	0.471	5E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1983	chr1	183358404	183358405	rs2078087	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q25.3	NMNAT2	rs2078087-A	0.139	1E-6	(AST/ALT)	0.03	[NR] unit increase	Illumina [899892]	N
1985	chr1	183616883	183616884	rs10911390	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	1q25.3	APOBEC4	rs10911390-T	0.06	6E-6		1.13		Illumina [2100739] (imputed)	N
1987	chr1	183837031	183837032	rs4651156	20360315	Uher R	2010-04-01	Am J Psychiatry	Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.	Response to antidepressants	706 European ancestry individuals	NA	1q25.3	RGL1	rs4651156-?	0.29	3E-6	(nortriptyline)	12.6	[NR] unit decrease	Illumina [539391]	N
1987	chr1	183852913	183852914	rs10797919	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	1q25.3	GLT25D2, RGL1	rs10797919-G	0.59	9E-6				Perlegen [378332]	N
1988	chr1	184002873	184002874	rs756199	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	1q25.3	GLT25D2	rs756199-G	0.42	7E-6		0.05	[0.03-0.07] cm increase	Illumina [420885]	N
1988	chr1	184007118	184007119	rs3814333	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1q25.3	GLT25D2	rs3814333-T	0.323	5E-51		0.049	[0.043-0.055] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1988	chr1	184007118	184007119	rs3814333	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	1q25.3	GLT25D2	rs3814333-T	0.33	2E-13		1.17	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1988	chr1	184018474	184018475	rs1926872	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	1q25.3	GLT25D2	rs1926872-T	0.52	1E-18		0.043	[0.031-0.055] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1988	chr1	184020944	184020945	rs2274432	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	1q25.3	GLT25D2, C1orf19	rs2274432-T	0.37	8E-9		5.3	[3.54-7.06] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1988	chr1	184023528	184023529	rs1046934	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1q25.3	TSEN15	rs1046934-A	0.64	2E-31		0.044	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1993	chr1	184649502	184649503	rs10911628	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	1q25.3	EDEM3	rs10911628-A	0.073	2E-13		1.954	[1.77-2.16]	Illumina [NR]	N
1993	chr1	184677463	184677464	rs3736757	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q25.3	EDEM3	rs3736757-A	0.473	6E-6	(Fat mass )	0.03	[NR] % increase	Illumina [899892]	N
1994	chr1	184761364	184761365	rs682331	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q25.3	FAM129A	rs682331-G	0.437	4E-6	(Head circumference )	0.02	[NR] cm increase	Illumina [899892]	N
1996	chr1	185014001	185014002	rs3753573	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q25.3	RNF2	rs3753573-A	0.0020	2E-6	(Total antioxidants )	0.03	[NR] mM increase	Illumina [899892]	N
2001	chr1	185684622	185684623	rs74133262	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	1q25.3	NR	rs74133262-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
2002	chr1	185794882	185794883	rs13375391	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QRS duration	455 African American individuals	NA	1q31.1	HMCN1	rs13375391-A		9E-6		5.82	[NR] ms increase	Illumina [> 930000]	N
2006	chr1	186258228	186258229	rs1293970	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	1q31.1	PRG4	rs1293970-?	NR	7E-7	(20x)			NR [2092490]	N
2006	chr1	186258228	186258229	rs1293970	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	1q31.1	PRG4	rs1293970-?	NR	3E-6	(10x)			NR [2092490]	N
2006	chr1	186258228	186258229	rs1293970	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	1q31.1	PRG4	rs1293970-?	NR	2E-6	(Vehicle)			NR [2092490]	N
2008	chr1	186632316	186632317	rs10911902	18347602	Sullivan PF	2008-03-18	Mol Psychiatry	Genomewide association for schizophrenia in the CATIE study: results of stage 1.	Schizophrenia	417 European ancestry cases, 411 European ancestry controls, 217 African American cases, 219 African American controls, 104 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry cases, 103 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry controls	NA	1q31.1	intergenic	rs10911902-?	0.17	2E-6		1.79	[NR]	Affymetrix [492900]	N
2009	chr1	186725002	186725003	rs4140564	18471798	Valdes AM	2008-05-08	Am J Hum Genet	Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis.	Knee osteoarthritis	357 European ancestry cases, 285 European ancestry controls	1,177 European ancestry cases, 2,372 European ancestry controls	1q31.1	PTGS2, PLA2G4A	rs4140564-?	0.05	3E-6		1.59	[1.31-1.94]	Illumina [413461]	N
2010	chr1	186825715	186825716	rs114333818	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	1q31.1	NR	rs114333818-A	NR	7E-6		1.3513513	[NR]	Illumina [up to 9792010] (imputed)	N
2010	chr1	186870071	186870072	rs12720541	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	1q31.1	PLA2G4A	rs12720541-T	0.264	9E-6	(GAE)	1.21	[1.10-1.35]	Affymetrix [4560000] (imputed)	N
2010	chr1	186875458	186875459	rs10798069	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q31.1	PTGS2, PLA2G4A	rs10798069-C	0.51	2E-7	(EA)	1.0524286		Affymetrix, Illumina [~ 9000000] (imputed)	N
2010	chr1	186875458	186875459	rs10798069	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q31.1	PTGS2, PLA2G4A	rs10798069-A	0.51	4E-9	(EA)	1.0729233		Affymetrix, Illumina [~ 9000000] (imputed)	N
2014	chr1	187412041	187412042	rs2244067	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	1q31.1	intergenic	rs2244067-T	NR	7E-6		0.2142	unit increase	Illumina [5767231] (imputed)	N
2016	chr1	187661529	187661530	rs953554	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	1q31.1	NR	rs953554-?		6E-6	(males)			Illumina [1211988] (imputed)	N
2016	chr1	187681622	187681623	rs4521954	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	1q31.1	NR	rs4521954-A	0.295	5E-6	(Total trans-18:1, EA)	0.0476	[0.027-0.068] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2018	chr1	187902980	187902981	rs655167	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	1q31.1	LOC100129274	rs655167-A	0.124	7E-6		1.259	[1.14-1.39]	Illumina [870065]	N
2019	chr1	188085832	188085833	rs10489764	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	1q31.1	FAM5C	rs10489764-?		8E-6				Illumina [859311]	N
2022	chr1	188379427	188379428	rs12125250	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	1q31.1	intergenic	rs12125250-C	NR	4E-6	(Foreign Policy)	0.124	[0.071-0.177] unit decrease	Illumina [628922]	N
2022	chr1	188383315	188383316	rs12142669	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q31.1	intergenic	rs12142669-A	0.104	3E-6	(DBP )	0.03	[NR] mmHg increase	Illumina [899892]	N
2030	chr1	189413174	189413175	rs12408261	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	1q31.1	NR	rs12408261-?		3E-6		0.28	unit decrease	Illumina [1211988] (imputed)	N
2031	chr1	189589338	189589339	rs10489759	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	1q31.1	LOC647132	rs10489759-?		8E-8	(EA)			Illumina [NR]	N
2032	chr1	189723622	189723623	rs10737562	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	1q31.1	intergenic	rs10737562-?	0.50	7E-6	(anti-dsDNA +)	1.3	[1.16-1.45]	Illumina [421318] (imputed)	N
2033	chr1	189861403	189861404	rs1400544	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Subclinical atherosclerosis traits (other)	Up to 984 individuals	NA	1q31.1	intergenic	rs1400544-?	NR	6E-6	(CCA IMT)			Affymetrix [70897]	N
2035	chr1	190057679	190057680	rs2419374	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide ideation score in major depressive disorder	358 European ancestry individuals	NA	1q31.1	BRINP3, FAM5C	rs2419374-A	0.19	1E-6		3.456	Suicidal ideation score increase	Illumina [794207]	N
2035	chr1	190066385	190066386	rs1935881	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Echocardiographic traits	Up to 1,238 European ancestry individuals	NA	1q31.1	FAM5C	rs1935881-?	NR	6E-6	(LAD)			Affymetrix [70897]	N
2036	chr1	190239906	190239907	rs10920678	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q31.1	FAM5C	rs10920678-A	0.441	1E-6	(EA)	0.015	[0.0086-0.0208] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2036	chr1	190239906	190239907	rs10920678	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q31.1	FAM5C	rs10920678-A	0.439	9E-7		0.014	[0.0087-0.0201] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2041	chr1	190841672	190841673	rs2053302	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	1q31.2	FAM5C, LOC647132	rs2053302-T	0.18	4E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
2041	chr1	190940626	190940627	rs12139672	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q31.2	NR	rs12139672-G	NR	4E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2046	chr1	191559355	191559356	rs10801047	17554261	Parkes M	2007-06-06	Nat Genet	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.	Crohn's disease	1,748 cases, 2,938 controls	1,182 European ancestry cases, 2,024 European ancestry controls	1q31.2	intergenic	rs10801047-?	0.08	3E-8		1.47	[1.22-1.76]	Affymetrix [see WTCCC]	N
2049	chr1	191939787	191939788	rs17403780	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q31.2	NR	rs17403780-T	0.910622742901786	1E-6	(IGP10)	0.3351	[0.2-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
2049	chr1	191939787	191939788	rs17403780	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q31.2	NR	rs17403780-T	0.910603886426346	6E-6	(IGP45)	0.3134	[0.18-0.45] unit decrease	Illumina [~ 2500000] (imputed)	N
2049	chr1	191939787	191939788	rs17403780	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q31.2	NR	rs17403780-T	0.910564153517364	7E-6	(IGP68)	0.3113	[0.18-0.45] unit decrease	Illumina [~ 2500000] (imputed)	N
2053	chr1	192431997	192431998	rs12067906	22763476	Zhang D	2012-07-05	Hypertens Res	Genome-wide linkage and association scans for pulse pressure in Chinese twins.	Blood pressure	63 Chinese ancestry dizygotic twin pairs	NA	1q31.2	PPP3CA, RGS21	rs12067906-?	NR	9E-7				Affymetrix [~ 900000]	N
2053	chr1	192536812	192536813	rs2816316	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	1q31.2	RGS1	rs2816316-?	0.84	2E-17		1.25	[1.19-1.32]	Illumina [292387]	N
2053	chr1	192536812	192536813	rs2816316	18311140	Hunt KA	2008-03-02	Nat Genet	Newly identified genetic risk variants for celiac disease related to the immune response.	Celiac disease	767 European ancestry cases, 1,422 European ancestry controls	1,643 European ancestry cases, 3,406 European ancestry controls	1q31.2	RGS1	rs2816316-C	NR	3E-11		1.39	[1.26-1.53]	Illumina [310605]	N
2053	chr1	192541020	192541021	rs1323292	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1q31.2	RGS1	rs1323292-A	NR	2E-8		1.12	[1.1-1.14]	Illumina [465434]	N
2054	chr1	192587862	192587863	rs10921219	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	1q31.2	intergenic	rs10921219-?		4E-6	(overall survival)	1.9	[1.44-2.49]	Illumina [729737]	N
2055	chr1	192806240	192806241	rs7550636	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	1q31.2	RGS2	rs7550636-T	0.88	4E-6	(AA)	0.25	[0.13-0.37] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
2057	chr1	192995212	192995213	rs9427573	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	1q31.2	UCHL5	rs9427573-?	NR	5E-6		2.56	[1.71-3.82]	Illumina [948142]	N
2062	chr1	193625232	193625233	rs6678275	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	1q31.2	intergenic	rs6678275-C	0.169	3E-7		1.09	[1.05-1.13]	Illumina [7055881] (imputed)	N
2063	chr1	193734899	193734900	rs2025934	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1q31.2	CDC73	rs2025934-G	0.93	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
2064	chr1	193921547	193921548	rs606149	20516156	Lewis CM	2010-06-01	Am J Psychiatry	Genome-wide association study of major recurrent depression in the U.K. population.	Major depressive disorder	1,636 European ancestry cases, 1,594 European ancestry controls	1,418 European ancestry cases, 1,918 European ancestry controls	1q31.3	LOC647167	rs606149-?	0.46	3E-6		1.25	[NR]	Illumina [471747]	N
2064	chr1	193962389	193962390	rs71642944	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	1q31.3	CDC73	rs71642944-A	0.05	7E-7	(Hispanic)			Affymetrix, Illumina [14227402] (imputed)	N
2067	chr1	194357335	194357336	rs4428865	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	1q31.3	LOC102723336	rs4428865-?		7E-7				Illumina [5970354] (imputed)	N
2069	chr1	194530913	194530914	rs3001167	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q31.3	EEF1A1P14	rs3001167-G	0.316	3E-6	(Adiponectin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
2072	chr1	194995130	194995131	rs11580861	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	1q31.3	NR	rs11580861-T	0.031	3E-7		3.3	[2.08-5.22]	Illumina [7261187] (imputed)	N
2076	chr1	195492344	195492345	rs1582156	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	1q31.3	intergenic	rs1582156-?		4E-6	(PC2)	0.0716	[NR] unit decrease	Illumina [4167292] (imputed)	N
2076	chr1	195531422	195531423	rs1890645	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	1q31.3	intergenic	rs1890645-?	0.30	4E-6		2.98	[1.88-4.73]	Illumina [346110]	N
2078	chr1	195790657	195790658	rs6677435	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	1q31.3	intergenic	rs6677435-?	NR	9E-6	(EA)			Illumina [37426733] (imputed)	N
2079	chr1	195914272	195914273	rs7517337	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	1q31.3	KCNT2	rs7517337-?	NR	2E-6		0.003	[NR] unit increase	Illumina [478011]	N
2080	chr1	196042661	196042662	rs7512769	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	1q31.3	NR	rs7512769-?	NR	2E-6		1.2898	[NR]	Affymetrix [722112]	N
2085	chr1	196620916	196620917	rs3753394	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	1q31.3	CFHR1, CFHR3, CFH	rs3753394-C	0.43	7E-11	(Serum level of C3)	0.05	[0.030-0.070] g/L decrease	Illumina [1940245] (imputed)	N
2085	chr1	196642232	196642233	rs800292	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		1q31.3	CFH	rs800292-A	0.23	5E-41		0.15	[0.13-0.17] unit decrease	Affymetrix, Illumina [2397181]	N
2085	chr1	196646175	196646176	rs1329424	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	1q31.3	CFH	rs1329424-T	0.38	2E-31	(EA)	1.41	[1.33-1.49]	Affymetrix, Illumina [~ 2500000] (imputed)	N
2085	chr1	196646175	196646176	rs1329424	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	1q31.3	CFH	rs1329424-T	0.351	6E-16		1.88	[1.68-2.10]	Illumina [~ 2500000] (imputed)	N
2085	chr1	196654323	196654324	rs1061147	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	1q31.3	CFH	rs1061147-A	0.37	7E-32		1.4	[1.32-1.48]	Affymetrix, Illumina [~ 2500000] (imputed)	N
2085	chr1	196659236	196659237	rs1061170	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	1q31.3	CFH	rs1061170-?	0.371	5E-67		2.78	[2.5-3.13]	Affymetrix, Illumina [6036699] (imputed)	N
2085	chr1	196659236	196659237	rs1061170	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	1q31.3	CFH	rs1061170-?	0.371	1E-108		2.78	[2.5-3.03]	Affymetrix, Illumina [6036699] (imputed)	N
2085	chr1	196659236	196659237	rs1061170	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	1q31.3	CFH	rs1061170-C	0.37	1E-261		2.41	[NR]	Affymetrix [6036699] (imputed)	N
2085	chr1	196659236	196659237	rs1061170	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	1q31.3	CFH	rs1061170-?	NR	4E-117				Affymetrix [632932]	N
2085	chr1	196660260	196660261	rs10801555	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	1q31.3	CFH	rs10801555-A	0.40	2E-47		2.33	[2.08-2.63]	Illumina [2272849] (imputed)	N
2085	chr1	196673992	196673993	rs1831282	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (extreme sampling)	720 European ancestry grade 5 cases, 513 European ancestry grade 1 controls	70 European ancestry grade 5 cases, 73 European ancestry grade 1 controls	1q31.3	CFHR4, CFHR5, KCNT2, CFH	rs1831282-?	0.53	9E-24		2.63	[2.17-3.13]	Affymetrix [2543887] (imputed)	N
2085	chr1	196673992	196673993	rs1831282	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	1q31.3	CFHR4, CFHR5, KCNT2, CFH	rs1831282-?	0.55	1E-31		2.38	[2.08-2.78]	Affymetrix [2543887] (imputed)	N
2085	chr1	196679454	196679455	rs10737680	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	1q31.3	CFH	rs10737680-?	NR	8E-38		1.69	[NR]	Illumina [4471719] (imputed)	N
2085	chr1	196679454	196679455	rs10737680	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	1q31.3	CFH	rs10737680-A	0.64	1E-434		2.43	[2.39-2.47]	Affymetrix, Illumina [2442884] (imputed)	N
2085	chr1	196679454	196679455	rs10737680	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	1q31.3	CFH	rs10737680-A	0.566	2E-76		3.11	[2.76-3.51]	Illumina [~ 2500000] (imputed)	N
2085	chr1	196686917	196686918	rs6677604	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	1q31.3	CFHR3, CFHR1	rs6677604-G	0.8	5E-14		1.35	[NR]	Illumina [> 1000000] (imputed)	N
2085	chr1	196686917	196686918	rs6677604	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	1q31.3	CFHR3	rs6677604-G	0.93	7E-7	(East Asian)	1.57	[NR]	Illumina [> 1000000] (imputed)	N
2085	chr1	196686917	196686918	rs6677604	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	1q31.3	CFHR3	rs6677604-G	0.8	2E-9	(EA)	1.3	[NR]	Illumina [> 1000000] (imputed)	N
2085	chr1	196686917	196686918	rs6677604	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	1q31.3	CFHR1, CFHR4, CHFR2, CFHR3, CFHR5, CFH	rs6677604-?	0.77 (EA)	3E-10		1.47	[NR]	Illumina [498322]	N
2085	chr1	196696932	196696933	rs1410996	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	1q31.3	CFHR4	rs1410996-G	0.585	1E-9	(FXIIIA)	0.203	[0.14-0.27] unit increase	Illumina [NR] (imputed)	N
2085	chr1	196696932	196696933	rs1410996	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	1q31.3	CFH	rs1410996-?	NR	2E-111				Affymetrix [632932]	N
2085	chr1	196701050	196701051	rs380390	15761122	Klein RJ	2005-03-10	Science	Complement factor H polymorphism in age-related macular degeneration.	Age-related macular degeneration	96 European ancestry cases, 50 European ancestry controls	NA	1q31.3	CFH	rs380390-C	0.70 (HapMap CEU)	4E-8		4.6	[2.0-11]	Affymetrix [103611]	N
2085	chr1	196702809	196702810	rs1329428	20861866	Kopplin LJ	2010-09-23	Genes Immun	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Age-related macular degeneration	684 European ancestry cases, 188 European ancestry controls	1,896 European ancestry cases, 1,866 European ancestry controls	1q31.3	CFH	rs1329428-?	NR	3E-64		2.78	[NR]	Affymetrix [> 361556] (imputed)	N
2086	chr1	196760416	196760417	rs426736	20694013	Davila S	2010-08-08	Nat Genet	Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.	Meningococcal disease	475 European ancestry cases, 4,703 European ancestry controls	929 European ancestry cases, 1,351 European ancestry controls	1q31.3	CFHR3, CFH	rs426736-?	0.84	5E-13		1.59	[1.41-1.82]	Illumina [518920]	N
2086	chr1	196844592	196844593	rs6428370	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	1q31.3	intergenic	rs6428370-G	0.32	7E-6		1.43	[1.20-1.60]	Affymetrix [307944]	N
2087	chr1	196886769	196886770	rs4915559	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	1q31.3	CFHR4	rs4915559-T	0.759	7E-19	(FXIIIA)	0.339	[0.26-0.41] unit increase	Illumina [NR] (imputed)	N
2087	chr1	196973182	196973183	rs12116643	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	1q31.3	CFHR4	rs12116643-T	0.84	5E-30	(FXIIIA)	0.515	[0.43-0.6] unit increase	Illumina [NR] (imputed)	N
2088	chr1	197020657	197020658	rs2990510	22704111	Hotaling JM	2012-06-13	J Urol	Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.	Erectile dysfunction in type 1 diabetes	125 European ancestry cases, 403 European ancestry controls	NA	1q31.3	F13B	rs2990510-G	0.305	6E-6				Illumina [840354]	N
2088	chr1	197070775	197070776	rs10922162	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	1q31.3	CFHR4	rs10922162-C	0.839	2E-30	(FXIIIA)	0.521	[0.43-0.61] unit increase	Illumina [NR] (imputed)	N
2089	chr1	197155020	197155021	rs7410943	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	1q31.3	CFHR4	rs7410943-A	0.531	3E-19	(FXIIIB)	0.301	[0.23-0.37] unit increase	Illumina [NR] (imputed)	N
2090	chr1	197293422	197293423	rs114726755	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q31.3	NR	rs114726755-T	NR	3E-6		1.1627907	[NR]	Illumina [7158791] (imputed)	N
2090	chr1	197306098	197306099	rs2786111	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	1q31.3	F13B, ASPM, CRB1, ZBTB41, CFHR5	rs2786111-C	NR	5E-6	(Recessive)	2.26	[1.60-3.19]	Affymetrix, Illumina [1621689] (imputed)	N
2090	chr1	197325907	197325908	rs2786098	20032318	Sleiman PM	2009-12-23	N Engl J Med	Variants of DENND1B associated with asthma in children.	Asthma	793 European ancestry cases, 1,988 European ancestry controls	917 European ancestry cases, 1,546 European ancestry controls, 1,667 African American cases, 2,045 African American controls	1q31.3	DENND1B, CRB1	rs2786098-?	0.848	9E-11	(EA)	1.43		Illumina [~ 550000]	N
2090	chr1	197325907	197325908	rs2786098	20032318	Sleiman PM	2009-12-23	N Engl J Med	Variants of DENND1B associated with asthma in children.	Asthma	793 European ancestry cases, 1,988 European ancestry controls	917 European ancestry cases, 1,546 European ancestry controls, 1,667 African American cases, 2,045 African American controls	1q31.3	CRB1, DENND1B	rs2786098-?	NR	2E-13			[NR]	Illumina [~ 550000]	N
2092	chr1	197629341	197629342	rs1775453	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	1q31.3	DENND1B	rs1775453-C	0.26	2E-7				Affymetrix [2500000] (imputed)	N
2092	chr1	197631140	197631141	rs2488389	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q31.3	NR	rs2488389-A	0.2092	9E-8	(EA)	1.0841732	[1.05-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2092	chr1	197631140	197631141	rs2488389	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q31.3	NR	rs2488389-A	0.2092	9E-15	(EA)	1.1191661	[1.09-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2092	chr1	197631140	197631141	rs2488389	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1q31.3	C1orf53	rs2488389-A	0.22	8E-13		1.115	[1.077-1.153]	Affymetrix, Illumina [1230000] (imputed)	N
2093	chr1	197701278	197701279	rs2488397	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q31.3	NR	rs2488397-?	NR	5E-16	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
2093	chr1	197727641	197727642	rs1998598	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	1q31.3	DENND1B	rs1998598-G	0.302	9E-9		1.04	[1.00-1.09]	Affymetrix, Illumina [953241] (imputed)	N
2093	chr1	197781197	197781198	rs12134279	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	1q31.3	DENND1B	rs12134279-T	0.20	2E-14		1.34	[1.25-1.45]	Illumina [507467]	N
2099	chr1	198469161	198469162	rs10922438	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide)	168 Japanese ancestry cases, 335 Japanese ancestry controls	NA	1q31.3	ATP6V1G3	rs10922438-T	0.106	6E-6	(Allelic model)	2.301	[1.608-3.293]	Illumina [733202]	N
2100	chr1	198595505	198595506	rs12127588	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	1q31.3	ATP6V1G3, PTPRC	rs12127588-A	0.21	7E-10		0.09	[0.061-0.119] unit increase	Illumina [561583]	N
2100	chr1	198598662	198598663	rs7555082	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q31.3	PTPRC	rs7555082-A	0.1069	3E-9	(EA)	1.1006883	[1.07-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2100	chr1	198598662	198598663	rs7555082	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q31.3	PTPRC	rs7555082-A	0.1069	1E-10	(EA)	1.1317531	[1.09-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2100	chr1	198601704	198601705	rs76181804	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q31.3	NR	rs76181804-?	NR	1E-10	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
2100	chr1	198656406	198656407	rs2359952	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	1q31.3	PTPRC	rs2359952-A	0.6	4E-7		1.31	[1.13-1.51]	Illumina [480391]	N
2103	chr1	199007207	199007208	rs7529925	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	1q32.1	MIR181A1	rs7529925-C	0.28	8E-9	(EA, RBCC)	0.014	[0.010-0.018] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
2105	chr1	199356515	199356516	rs16844716	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	1q32.1	intergenic	rs16844716-?	0.09	9E-6		1.65	[1.32-2.07]	Affymetrix [832357]	N
2109	chr1	199798338	199798339	rs6427782	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1q32.1	NR5A2	rs6427782-A	0.51	5E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
2110	chr1	199965167	199965168	rs10919791	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls	1q32.1	NR5A2	rs10919791-?	NR	1E-11		1.27	[1.18-1.33]	Illumina [608202]	N
2110	chr1	200007431	200007432	rs3790844	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	1q32.1	NR5A2	rs3790844-?	NR	3E-6		1.2048193	[1.11-1.3]	Illumina [866891] (imputed)	N
2110	chr1	200007431	200007432	rs3790844	20101243	Petersen GM	2010-01-24	Nat Genet	A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.	Pancreatic cancer	3,851 European, Chinese and other ancestry cases, 3,934 European, Chinese and other ancestry controls	NA	1q32.1	NR5A2	rs3790844-T	0.76	2E-10		1.3	[1.19-1.41]	Illumina [551766]	N
2111	chr1	200101919	200101920	rs2816958	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q32.1	NR	rs2816958-G	0.89	1E-18	(EA)	1.1982042		Affymetrix, Illumina [~ 9000000] (imputed)	N
2111	chr1	200101919	200101920	rs2816958	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q32.1	NR	rs2816958-G	0.89	4E-10	(EA)	1.1040689		Affymetrix, Illumina [~ 9000000] (imputed)	N
2111	chr1	200101919	200101920	rs2816958	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	1q32.1	intergenic	rs2816958-G	0.887	2E-17		1.23	[1.161-1.302]	Affymetrix, Illumina [1230000] (imputed)	N
2111	chr1	200107424	200107425	rs2737618	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	1q32.1	NR5A2	rs2737618-A	0.07	7E-6		0.311	[0.18-0.45] unit increase	Affymetrix [2366856] (imputed)	N
2112	chr1	200266502	200266503	rs6678676	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q32.1	NR	rs6678676-C	NR	2E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2115	chr1	200548744	200548745	rs10800713	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Tandem gait	2,946 individuals	NA	1q32.1	KIF14	rs10800713-A	0.73	3E-7	(Sum sidestep distance)	2.431	[1.51-3.36] unit decrease	Illumina [6200000] (imputed)	N
2116	chr1	200672905	200672906	rs7512898	19389651	Smith JG	2009-02-15	Heart Rhythm	Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.	Electrocardiographic conduction measures	1,262 Kosraen individuals	NA	1q32.1	NR	rs7512898-?	0.41	5E-6	(PR segment)			Affymetrix [338049]	N
2117	chr1	200826768	200826769	rs2292096	22116939	Guo Y	2011-11-24	Hum Mol Genet	Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.	Epilepsy	504 Han Chinese ancestry cases, 2,947 Han Chinese ancestry controls	583 Han Chinese ancestry cases, 497 Han Chinese ancestry controls	1q32.1	CAMSAP1L1	rs2292096-?	NR	1E-8		1.59	[NR]	Illumina [461024]	N
2117	chr1	200874228	200874229	rs35730213	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q32.1	NR	rs35730213-?	NR	8E-45	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
2117	chr1	200877561	200877562	rs7554511	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q32.1	NR	rs7554511-C	0.72	7E-31	(EA)	1.1808171		Affymetrix, Illumina [~ 9000000] (imputed)	N
2117	chr1	200877561	200877562	rs7554511	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q32.1	NR	rs7554511-A	0.72	2E-27	(EA)	1.1616178		Affymetrix, Illumina [~ 9000000] (imputed)	N
2117	chr1	200877561	200877562	rs7554511	25082827	Julia A	2014-07-31	Hum Mol Genet	A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.	Ulcerative colitis	up to 7,483 European ancestry cases, up to 21,211 European ancestry controls	1,073 European ancestry cases, 1,279 European ancestry controls	1q32.1	KIF21B	rs7554511-?	NR	5E-6	(Southern European)	1.41	[1.22-1.64]	Illumina [546271]	N
2117	chr1	200877561	200877562	rs7554511	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1q32.1	KIF21B	rs7554511-C	0.725	1E-32		1.164	[1.128-1.202]	Affymetrix, Illumina [1230000] (imputed)	N
2117	chr1	200877561	200877562	rs7554511	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	1q32.1	C1orf106	rs7554511-C	0.72	2E-13		1.19	[1.14-1.25]	Affymetrix, Illumina [~ 1100000] (imputed)	N
2117	chr1	200877561	200877562	rs7554511	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	1q32.1	C1orf106, KIF21B	rs7554511-C	0.726	2E-7		1.14	[1.08-1.19]	Affymetrix, Illumina [953241] (imputed)	N
2117	chr1	200877561	200877562	rs7554511	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	1q32.1	KIF21B	rs7554511-?	NR	1E-6				Affymetrix [NR]	N
2117	chr1	200881594	200881595	rs7522462	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	1q32.1	C1orf106, KIF21B	rs7522462-G	NR	2E-9		1.11	[1.1-1.13]	Illumina [465434]	N
2117	chr1	200892136	200892137	rs296547	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	1q32.1	intergenic	rs296547-?	0.64	4E-9		1.12	[1.09-1.16]	Illumina [292387]	N
2118	chr1	200935865	200935866	rs11584383	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	1q32.1	KIF21B, C1orf81, CACNA1S	rs11584383-C	NR	2E-7		1.11	[NR]	Illumina [266047]	N
2118	chr1	200935865	200935866	rs11584383	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	1q32.1	intergenic	rs11584383-T	0.70	1E-11		1.18	[NR]	Affymetrix, Illumina [635547] (imputed)	N
2118	chr1	200951306	200951307	rs72749142	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q32.1	NR	rs72749142-G	NR	3E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
2118	chr1	200960306	200960307	rs2297909	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	1q32.1	NR	rs2297909-A		2E-6	(Modelling analysis)	1.06	[1.04-1.09]	NR [1252901] (imputed)	N
2118	chr1	200960306	200960307	rs2297909	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	1q32.1	KIF21B	rs2297909-G	0.68	5E-12				Illumina [2223620] (imputed)	N
2119	chr1	201081942	201081943	rs2281845	21931568	Geller F	2011-09-08	PLoS Genet	Genome-wide association study identifies four loci associated with eruption of permanent teeth.	Permanent tooth development	5,088 European ancestry females	2,994 European ancestry individuals, 161 individuals	1q32.1	CACNA1S	rs2281845-T	0.38	8E-17		0.103	[0.08-0.12] unit decrease	Illumina [521741]	N
2120	chr1	201262431	201262432	rs860554	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	1q32.1	PKP1	rs860554-?	0.05	5E-8				Affymetrix [253903]	N
2121	chr1	201328704	201328705	rs45576635	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	1q32.1	TNNT2	rs45576635-A	0.0323	9E-6	(Ordinal II)	1.1179	[0.63-1.61] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2121	chr1	201345486	201345487	rs12564445	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	1q32.1	TNNT2	rs12564445-A	NR	5E-8	(Dichotomous variable)	2.33	[1.72-3.16]	Affymetrix, Illumina [~ 2500000] (imputed)	N
2121	chr1	201345486	201345487	rs12564445	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	1q32.1	TNNT2	rs12564445-A	NR	5E-8	(Dichotomous variable)	2.33	[1.72-3.16]	Affymetrix, Illumina [~ 2500000] (imputed)	N
2123	chr1	201594664	201594665	rs2068824	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	1q32.1	NAV1	rs2068824-C		6E-6				Illumina [944512] (imputed)	N
2123	chr1	201630954	201630955	rs586688	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q32.1	NAV1	rs586688-A	0.092	8E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
2124	chr1	201784286	201784287	rs2820292	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q32.1	NAV1	rs2820292-C	0.556	2E-8	(EA, men)	0.023	[0.015-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2124	chr1	201784286	201784287	rs2820292	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q32.1	NAV1	rs2820292-C	0.555	5E-6	(EA, women)	0.018	[0.01-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2124	chr1	201784286	201784287	rs2820292	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q32.1	NAV1	rs2820292-C	0.555	2E-10	(EA)	0.02	[0.013-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2124	chr1	201784286	201784287	rs2820292	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q32.1	NAV1	rs2820292-C	0.547	5E-10		0.018	[0.012-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2125	chr1	201884951	201884952	rs2819348	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	1q32.1	ATP2B4	rs2819348-C	0.318	3E-6		0.078	[0.045-0.111] cup size increase	Illumina [7422970] (imputed)	N
2125	chr1	201952573	201952574	rs4950806	21862451	Benyamin B	2011-08-23	Hum Mol Genet	GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.	Butyrylcholinesterase levels	6,879 European ancestry adult individuals	1,260 European ancestry adult individuals, 652 European ancestry adolescent individuals	1q32.1	RNPEP	rs4950806-T	0.40	9E-16		0.14	[0.10-0.18] SD decrease	Illumina [2383238] (imputed)	N
2127	chr1	202149438	202149439	rs4511180	25456346	Nievergelt CM	2014-10-30	Psychoneuroendocrinology	Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.	Post-traumatic stress disorder	940 European, Hispanic, Native American, African American, East Asian and other ancestry cases, 2,554 European, Hispanic, Native American, African American, East Asian and other ancestry trauma-exposed controls	313 European ancestry cases, 178 European ancestry trauma-exposed controls	1q32.1	PTPRV	rs4511180-A	0.268	8E-7	(African American)	4.178	[3.62-4.74]	Illumina [21693469] (imputed)	N
2127	chr1	202160969	202160970	rs3100127	25456346	Nievergelt CM	2014-10-30	Psychoneuroendocrinology	Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.	Post-traumatic stress disorder	940 European, Hispanic, Native American, African American, East Asian and other ancestry cases, 2,554 European, Hispanic, Native American, African American, East Asian and other ancestry trauma-exposed controls	313 European ancestry cases, 178 European ancestry trauma-exposed controls	1q32.1	LGR6	rs3100127-A	0.25	1E-6	(African American)	4.31	[3.73-4.89]	Illumina [21693469] (imputed)	N
2127	chr1	202187175	202187176	rs6678914	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	1q32.1	LGR6, UBE2T, PTPN7	rs6678914-?	0.59	1E-8		1.1	[1.06-1.13]	Illumina [NR]	N
2129	chr1	202391742	202391743	rs12739262	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q32.1	PPP1R12B	rs12739262-A	0.262	1E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
2129	chr1	202469722	202469723	rs12734338	24778558	Domarkiene I	2013-12-01	Balkan J Med Genet	RTN4 and FBXL17 Genes are Associated with Coronary Heart Disease in Genome-Wide Association Analysis of Lithuanian Families.	Coronary heart disease	31 European ancestry cases and 63 European ancestry controls from 32 families	NA	1q32.1	PPP1R12B	rs12734338-G	NR	3E-7		29.0	[3.95-212.9]	Illumina [646445]	N
2129	chr1	202469722	202469723	rs12734338	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	1q32.1	UBE2T, PPP1R12B, SYT2	rs12734338-C		3E-7				Illumina [944512] (imputed)	N
2130	chr1	202637303	202637304	rs141860749	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	1q32.1	SYT2	rs141860749-A	0.01	4E-7		8.9	[NR]	Affymetrix [4893794] (imputed)	N
2134	chr1	203155881	203155882	rs4950928	18403759	Ober C	2008-04-09	N Engl J Med	Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.	YKL-40 levels	632 Hutterite individuals	443 European ancestry cases, 491 European ancestry controls, 206 European ancestry individuals	1q32.1	CHI3L1	rs4950928-G	0.29	1E-13		0.3	[NR] ng/ml decrease	Affymetrix [290325]	N
2135	chr1	203164188	203164189	rs115384187	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	1q32.1	MYBPH, ADORA1, CHI3L1, CHIT1	rs115384187-A	0.0125	9E-6		6.4585	[5.64-7.28]	Illumina [8809853] (imputed)	N
2136	chr1	203372484	203372485	rs1539143	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q32.1	FMOD	rs1539143-G	0.173	1E-6	(Trunk fat mass )	0.04	[NR] kg increase	Illumina [899892]	N
2137	chr1	203492719	203492720	rs13303128	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	1q32.1	OPTC	rs13303128-C		9E-6		0.2833	unit increase	Illumina [5767231] (imputed)	N
2138	chr1	203651926	203651927	rs1541252	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin concentration	7,943 African American children, 6,234 European ancestry children	NA	1q32.1	ATP2B4	rs1541252-?	NR	9E-8				Illumina [544917]	N
2138	chr1	203654023	203654024	rs10900585	22895189	Timmann C	2012-08-15	Nature	Genome-wide association study indicates two novel resistance loci for severe malaria.	Malaria	1,325 African ancestry, 828 African ancestry controls	2,229 African ancestry cases, 3,526 African ancestry controls	1q32.1	ATP2B4	rs10900585-T	0.62	2E-10		1.64	[NR]	Affymetrix [4205739] (imputed)	N
2139	chr1	203766330	203766331	rs4951011	25038754	Cai Q	2014-07-20	Nat Genet	Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.	Breast cancer	2,867 Chinese ancestry cases, 2,285 Chinese ancestry controls, 2,246 Korean ancestry cases, 2,052 Korean ancestry controls	5,029 Chinese ancestry cases, 5,302 Chinese ancestry controls, 6,066 Korean ancestry cases, 8,003 Korean ancestry controls, 6,572 Japanese ancestry cases, 6,539 Japanese ancestry controls, 16,003 European ancestry cases, 41,335 European ancestry controls	1q32.1	ZC3H11A	rs4951011-G	0.282	9E-9	(East Asian)	1.09	[1.06-1.12]	Affymetrix [up to 1930412] (imputed)	N
2142	chr1	204103617	204103618	rs2293335	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	1q32.1	ETNK2	rs2293335-?	0.3	5E-6	(Age 20-60 years)	1.35	[1.19-1.54]	Affymetrix, Illumina [up to 17585496] (imputed)	N
2142	chr1	204112983	204112984	rs3795578	21177773	Moyer AM	2010-12-22	Toxicol Sci	Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study.	Response to acetaminophen (hepatotoxicity)	60 European ancestry lymphoblastoid cell lines, 56 African American lymphoblastoid cell lines, 60 Han Chinese American lymphoblastoid cell lines	NA	1q32.1	ETNK2	rs3795578-?	0.40	7E-6				Affymetrix, Illumina [1348864]	N
2143	chr1	204274518	204274519	rs7534537	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		1q32.1	PLEKHA6	rs7534537-T	NR	3E-6		0.0587	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2145	chr1	204516024	204516025	rs2290854	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Breast Cancer in BRCA1 mutation carriers	1,426 European ancestry cases, 1,301 European ancestry controls	6,031 European ancestry cases, 5,933 European ancestry controls	1q32.1	MDM4	rs2290854-A	0.31	1E-7		1.13	[1.08-1.18]	Illumina [2568349] (imputed)	N
2145	chr1	204518841	204518842	rs4245739	24325915	Purrington KS	2013-12-09	Carcinogenesis	Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.	Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative)	1,529 European ancestry cases, 3,399 European ancestry controls	2,148 European ancestry cases, 1,309 European ancestry controls	1q32.1	MDM4	rs4245739-C		4E-6		1.19	[1.11-1.29]	Illumina [NR] (imputed)	N
2145	chr1	204518841	204518842	rs4245739	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	1q32.1	LRRN2, PIK3C2B, MDM4	rs4245739-?	0.26	2E-12		1.14	[1.10-1.18]	Illumina [NR]	N
2145	chr1	204518841	204518842	rs4245739	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	1q32.1	LRRN2, PIK3C2B, LOC127841, MDM4, PPP1R15B, PLEKHA6	rs4245739-A	0.75	2E-11		1.1	[1.05-1.14]	Illumina [~ 2600000] (imputed)	N
2145	chr1	204572070	204572071	rs12143943	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	1q32.1	MDM4	rs12143943-?	0.413	5E-6	(PAL8)			Illumina [475971]	N
2145	chr1	204576982	204576983	rs11584700	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 101,069 European ancestry individuals	25,490 European ancestry individuals	1q32.1	LRRN2	rs11584700-?	0.22	8E-12	(College)	1.09	[NR]	Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)	N
2145	chr1	204589100	204589101	rs3789044	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	1q32.1	intergenic	rs3789044-A	0.219	5E-8		0.028	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2145	chr1	204599294	204599295	rs7551222	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q32.1	NR	rs7551222-A	NR	5E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
2147	chr1	204767304	204767305	rs11240285	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1q32.1	LRRN2, NFASC	rs11240285-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
2147	chr1	204784017	204784018	rs7552806	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	1q32.1	NFASC	rs7552806-?	NR	3E-6	(DMFS5,DMFS5max)			Illumina [518997]	N
2147	chr1	204784017	204784018	rs7552806	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	1q32.1	NFASC	rs7552806-?	NR	3E-6	(DMFS5, DMFS5max)			Illumina [518997]	N
2147	chr1	204828040	204828041	rs12043259	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
2148	chr1	204877651	204877652	rs2247208	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	1q32.1	NFASC	rs2247208-?		8E-6				Illumina [859311]	N
2148	chr1	204917579	204917580	rs2068666	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	1q32.1	NFASC	rs2068666-G	0.0813	9E-6		2.38	[2.00-2.76]	Illumina [8809853] (imputed)	N
2149	chr1	205035454	205035455	rs16937	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q32.1	NR	rs16937-A	NR	5E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
2150	chr1	205180409	205180410	rs76872152	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q32.1	DSTYK	rs76872152-A	0.062	5E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
2150	chr1	205235989	205235990	rs1668873	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	1q32.1	TMCC2	rs1668873-G	NR	1E-20		0.01	[0.01-0.014] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
2150	chr1	205237136	205237137	rs1668871	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	1q32.1	TMCC2	rs1668871-C	NR	3E-14		2.804	[2.08-3.53] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2150	chr1	205244952	205244953	rs1172130	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	1q32.1	TMCC2	rs1172130-G	NR	4E-27		0.011	[0.009-0.013] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2150	chr1	205249449	205249450	rs9660992	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	1q32.1	CNTN2, RBBP5, RIPK5, TMCC2	rs9660992-A	0.57	3E-13		0.11	[NR] unit increase	Illumina [476395]	N
2152	chr1	205458162	205458163	rs6680582	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	1q32.1	PCTK3	rs6680582-A	0.072	5E-7		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2152	chr1	205483594	205483595	rs12127944	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q32.1	NR	rs12127944-C	0.911226779053085	4E-6	(IGP75)	0.3151	[0.18-0.45] unit increase	Illumina [~ 2500000] (imputed)	N
2152	chr1	205483594	205483595	rs12127944	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q32.1	NR	rs12127944-C	0.911099744252874	6E-6	(IGP74)	0.3115	[0.18-0.45] unit increase	Illumina [~ 2500000] (imputed)	N
2153	chr1	205638221	205638222	rs12409639	23269536	Sun J	2012-12-27	Hum Genet	Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population.	Prostate-specific antigen levels	1,999 Chinese ancestry males	1,496 Chinese ancestry males	1q32.1	SLC45A3, NUCKS1, RAB7L1, SLC41A1, FLJ32569	rs12409639-A	0.11	2E-19		0.2	[NR] % increase	Illumina [> 709211] (imputed)	N
2153	chr1	205638463	205638464	rs16856139	24919509	Terao C	2014-06-11	J Med Genet	A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population.	Prostate-specific antigen levels	1,086 Japanese ancestry males	1,302 Japanese ancestry males	1q32.1	SLC45A3	rs16856139-?	NR	2E-11		0.084	[0.059-0.109] unit increase	Illumina [303283]	N
2153	chr1	205642789	205642790	rs2153904	25434496	Kim S	2014-11-27	Gene	Genetic variants at 1q32.1, 10q11.2 and 19q13.41 are associated with prostate-specific antigen for prostate cancer screening in two Korean population-based cohort studies.	Prostate-specific antigen levels	554 Korean ancestry individuals	1,575 Korean ancestry individuals	1q32.1	SLC45A3	rs2153904-C	0.5	1E-13		0.13	[0.091-0.169] unit decrease	Affymetrix [2163106] (imputed)	N
2154	chr1	205676262	205676263	rs12748961	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	1q32.1	SLC45A3, NUKS1	rs12748961-T	0.51	4E-8	(basophil count)	0.064	[0.04-0.08] unit increase	Illumina [2178645] (imputed)	N
2154	chr1	205678125	205678126	rs16856186	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	1q32.1	intergenic	rs16856186-?	NR	9E-6	(FEV1 decline in asthmatics)	0.2684	[0.15-0.39] unit increase	Illumina [~ 2500000] (imputed)	N
2154	chr1	205685351	205685352	rs951366	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	1q32.1	NUCKS1, RAB7L1	rs951366-T	0.6	2E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
2154	chr1	205689806	205689807	rs823094	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	1q32.1	NUCKS1, RAB7L1	rs823094-G	0.43	2E-7	(Single Height)	0.05	[0.03-0.07] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2154	chr1	205696614	205696615	rs1775154	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	1q32.1	NUCKS1	rs1775154-A	0.43	6E-7		0.45	[0.27-0.63] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2154	chr1	205712529	205712530	rs188212039	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	1q32.1	NR	rs188212039-G	0.998	5E-6		1.792	[1.02-2.56] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
2154	chr1	205713377	205713378	rs823128	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	1q32.1	PARK16, NUCKS1	rs823128-A	0.97	7E-8		1.52	[NR]	Illumina [463185]	N
2154	chr1	205719531	205719532	rs823114	24842889	Vacic V	2014-05-19	Hum Mol Genet	Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.	Parkinson's disease	1,130 Ashkenazi Jewish cases, 2,611 Ashkenazi Jewish controls	306 Ashkenazi Jewish cases, 2,583 Ashkenazi Jewish controls	1q32.1	PARK16	rs823114-?	0.59	3E-6		1.33	[1.20-1.47]	Affymetrix, Illumina [1069161] (imputed)	N
2154	chr1	205723571	205723572	rs823118	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	1q32.1	NUCKS1, RAB7L1	rs823118-T	0.559	2E-16		1.122	[1.09-1.15]	Illumina [7893274] (imputed)	N
2154	chr1	205725345	205725346	rs823123	25434496	Kim S	2014-11-27	Gene	Genetic variants at 1q32.1, 10q11.2 and 19q13.41 are associated with prostate-specific antigen for prostate cancer screening in two Korean population-based cohort studies.	Prostate-specific antigen levels	554 Korean ancestry individuals	1,575 Korean ancestry individuals	1q32.1	NUCKS1, RAB7L1	rs823123-G	0.16	5E-13		0.19	[0.13-0.25] unit increase	Affymetrix [2163106] (imputed)	N
2154	chr1	205752664	205752665	rs947211	19915576	Satake W	2009-11-15	Nat Genet	Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.	Parkinson's disease	988 Japanese ancestry cases, 2,521 Japanese ancestry controls	933 Japanese ancestry cases, 15,753 Japanese ancestry controls	1q32.1	SLC45A3, PARK16, PM20D1, NUCKS1, RAB7L1, SLC41A1	rs947211-?	NR	2E-12		1.3	[1.21-1.39]	Illumina [435470]	N
2154	chr1	205756483	205756484	rs6679073	25434496	Kim S	2014-11-27	Gene	Genetic variants at 1q32.1, 10q11.2 and 19q13.41 are associated with prostate-specific antigen for prostate cancer screening in two Korean population-based cohort studies.	Prostate-specific antigen levels	554 Korean ancestry individuals	1,575 Korean ancestry individuals	1q32.1	SLC41A1	rs6679073-C	0.5	4E-15		0.15	[0.11-0.19] unit decrease	Affymetrix [2163106] (imputed)	N
2154	chr1	205757823	205757824	rs1775148	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	1q32.1	SLC41A1	rs1775148-C	0.27	4E-8		1.06	[1.04-1.08]	Affymetrix, Illumina [up to 16852405] (imputed)	N
2154	chr1	205764639	205764640	rs823156	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	1q32.1	SLC41A1	rs823156-A	0.82	1E-7		1.21	[1.12-1.30]	Illumina [522782]	N
2155	chr1	205880178	205880179	rs74546197	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	1q32.1	SLC26A9	rs74546197-?	NR	3E-6	(Response)	2.17	[NR]	Illumina [~ 7000000] (imputed)	N
2155	chr1	205896234	205896235	rs11240594	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment	738 European ancestry, African American, and other ancestry cases	NA	1q32.1	SLC26A9	rs11240594-?	0.19	1E-7	(Olanzapine, processing speed)			Affymetrix [492900]	N
2156	chr1	205914756	205914757	rs4077468	23670970	Blackman SM	2013-05-13	Diabetes	Genetic modifiers of cystic fibrosis-related diabetes.	Cystic fibrosis-related diabetes	644 cystic fibrosis-related diabetes cases, 2,415 cystic fibrosis controls	124 cystic fibrosis-related diabetes cases, 570 cystic fibrosis controls	1q32.1	SLC26A9	rs4077468-A	0.58	1E-9		1.39	[1.25-1.54]	Illumina [549869]	N
2156	chr1	205917210	205917211	rs7419134	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	1q32.1	SLC26A9	rs7419134-A	NR	2E-6		4.726	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2161	chr1	206626827	206626828	rs2483058	23031429	Surakka I	2012-10-03	Twin Res Hum Genet	A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.	Cholesterol and Triglycerides	1,720 European ancestry monozygotic twins	1,261 European ancestry monozygotic twins	1q32.1	SRGAP2	rs2483058-C	NR	9E-7	(HDL)	0.203	[0.13-0.28] unit increase	Illumina [~ 2500000] (imputed)	N
2162	chr1	206715850	206715851	rs11118993	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	1q32.1	RASSF5	rs11118993-A	0.4787	9E-6	(Ordinal II)	0.2051	[0.11-0.3] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2163	chr1	206939903	206939904	rs3024505	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q32.1	NR	rs3024505-A	0.1573	5E-43	(EA)	1.2520686	[1.22-1.28]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2163	chr1	206939903	206939904	rs3024505	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q32.1	NR	rs3024505-A	0.1573	4E-25	(EA)	1.1797599	[1.15-1.21]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2163	chr1	206939903	206939904	rs3024505	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	1q32.1	IL20, IL10, IL24, IL19, PIGR, MAPKAPK2, FAIM3, RASSF5	rs3024505-A	0.16	7E-42		1.208	[1.163-1.254]	Affymetrix, Illumina [1230000] (imputed)	N
2163	chr1	206939903	206939904	rs3024505	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	1q32.1	IL10	rs3024505-G	NR	5E-10	(T1D)	1.2	[NR]	Affymetrix, Illumina [NR]	N
2163	chr1	206939903	206939904	rs3024505	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	1q32.1	IL10, IL19	rs3024505-A	0.16	6E-17		1.25	[1.19-1.32]	Affymetrix, Illumina [~ 1100000] (imputed)	N
2163	chr1	206939903	206939904	rs3024505	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	1q32.1	IL10, IL19	rs3024505-T	0.157	2E-14		1.12	[1.07-1.17]	Affymetrix, Illumina [953241] (imputed)	N
2163	chr1	206939903	206939904	rs3024505	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	1q32.1	IL19, IL10	rs3024505-T	NR	1E-8		1.28	[NR]	Illumina [266047]	N
2163	chr1	206939903	206939904	rs3024505	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	1q32.1	IL10	rs3024505-?	0.83	2E-9		1.19	[1.10-1.30]	Affymetrix, Illumina [841622] (imputed)	N
2163	chr1	206939903	206939904	rs3024505	18836448	Franke A	2008-10-05	Nat Genet	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.	Ulcerative colitis	1,167 European ancestry cases, 777 European ancestry controls	1,855 European ancestry cases, 3,091 European ancestry controls	1q32.1	IL10	rs3024505-T	0.15	1E-12		1.46	[1.31-1.62]	Affymetrix [355262]	N
2163	chr1	206943967	206943968	rs3024493	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	1q32.1	NR	rs3024493-?	NR	2E-50	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
2163	chr1	206943967	206943968	rs3024493	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	1q32.1	IL10	rs3024493-T	0.16	1E-12		1.35	[1.22-1.50]	Affymetrix [1897764] (imputed)	N
2163	chr1	206943967	206943968	rs3024493	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	1q32.1	IL10	rs3024493-?	NR	8E-8				Affymetrix [NR]	N
2163	chr1	206944644	206944645	rs1518111	20622878	Remmers EF	2010-07-11	Nat Genet	Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Beh&#x000c3;&#x000a7;et's disease.	Behcet's disease	1,215 Turkish ancestry cases, 1,278 Turkish ancestry controls	Up to 111 Turkish ancestry cases, 225 Turkish ancestry controls, 189 Middle Eastern Arab ancestry cases, 163 Middle Eastern Arab ancestry controls, 227 European ancestry cases, 203 European ancestry controls, 688 East Asian ancestry cases, 791 East Asian ancestry controls	1q32.1	IL10	rs1518111-?	NR	4E-18		1.45	[1.34-1.58]	Illumina [311459]	N
2163	chr1	206946633	206946634	rs1800871	20622879	Mizuki N	2010-07-11	Nat Genet	Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Beh&#x000e7;et's disease susceptibility loci.	Behcet's disease	611 Japanese ancestry cases, 737 Japanese ancestry controls	119 Korean ancestry cases, 140 Korean ancestry controls, 1,215 Turkish cases, 1,279 Turkish controls	1q32.1	IL10	rs1800871-T	0.31	1E-14		1.45	[1.32-1.60]	Affymetrix [320438]	N
2164	chr1	207009909	207009910	rs2243170	25649651	Wang X	2015-02-03	J Alzheimers Dis	Genetic Determinants of Survival in Patients with Alzheimer's Disease.	Alzheimer's disease (survival time)	983 cases	NA	1q32.1	IL19	rs2243170-?		7E-7		1.65	[NR]	Illumina [803323]	N
2164	chr1	207032750	207032751	rs574773	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	1q32.1	intergenic	rs574773-T	NR	2E-6	(Trust)	0.197	[0.12-0.28] unit increase	Illumina [628922]	N
2166	chr1	207269857	207269858	rs3813948	20212171	Buil A	2010-03-08	Blood	C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.	C4b binding protein levels	352 European ancestry related individuals	NA	1q32.1	C4BPB, C4BPA	rs3813948-C		4E-10	(%a7b0)			Illumina [283437]	N
2169	chr1	207652175	207652176	rs17045328	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	1q32.2	CR2	rs17045328-G	0.30	7E-6	(Malay)	1.38	[1.20-1.59]	Illumina [~ 2000000] (imputed)	N
2169	chr1	207692048	207692049	rs6656401	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	1q32.2	CR1	rs6656401-A	0.197	6E-24		1.18	[1.14-1.22]	Illumina [7055881] (imputed)	N
2169	chr1	207692048	207692049	rs6656401	19734903	Lambert JC	2009-09-06	Nat Genet	Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.	Alzheimer's disease	2,032 European ancestry cases, 5,328 European ancestry controls	3,978 European ancestry cases, 3,297 European ancestry controls	1q32.2	CR1	rs6656401-?,rs3818361-?	0.18	3E-10	(AA)	1.22	[1.15-1.30]	Illumina [537029]	N
2170	chr1	207750567	207750568	rs679515	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	1q32.2	CR1	rs679515-T	0.21	4E-9		1.22	[1.14-1.30]	NR [NR]	N
2170	chr1	207757514	207757515	rs12034598	22291609	Naitza S	2012-01-26	PLoS Genet	A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.	Inflammatory biomarkers	4,694 Sardinian individuals	1,392 Sardinian individuals	1q32.2	CR1	rs12034598-A	0.408	9E-14	(ESR)			Affymetrix [~ 1900000] (imputed)	N
2170	chr1	207784967	207784968	rs3818361	21460840	Hollingworth P	2011-04-03	Nat Genet	Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.	Alzheimer's disease	6,688 European ancestry cases, 13,685 European ancestry controls	13,182 European ancestry cases, 26,161 European ancestry controls	1q32.2	CR1	rs3818361-?	0.19	4E-14		1.18	[1.13-1.24]	Affymetrix, Illumina [496763]	N
2170	chr1	207784967	207784968	rs3818361	19734903	Lambert JC	2009-09-06	Nat Genet	Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.	Alzheimer's disease	2,032 European ancestry cases, 5,328 European ancestry controls	3,978 European ancestry cases, 3,297 European ancestry controls	1q32.2	CR1	rs6656401-?,rs3818361-?	0.18	3E-10	(AA)	1.22	[1.15-1.30]	Illumina [537029]	N
2170	chr1	207786288	207786289	rs6701713	21460841	Naj AC	2011-04-03	Nat Genet	Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	8,309 European ancestry cases, 7,366 European ancestry controls	10,523 European ancestry cases, 28,231 European ancestry controls	1q32.2	CR1	rs6701713-A	0.20	5E-10		1.16	[1.11-1.22]	Affymetrix, Illumina [2324889] (imputed)	N
2170	chr1	207803594	207803595	rs12034383	21700265	Kullo IJ	2011-06-22	Am J Hum Genet	Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.	Erythrocyte sedimentation rate	1,979 European ancestry individuals	5,628 European ancestry individuals	1q32.2	CR1	rs12034383-G	0.41	2E-28		0.13	[NR] unit decrease	Illumina [476395]	N
2170	chr1	207872289	207872290	rs7527798	21700265	Kullo IJ	2011-06-22	Am J Hum Genet	Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.	Erythrocyte sedimentation rate	1,979 European ancestry individuals	5,628 European ancestry individuals	1q32.2	CR1L	rs7527798-?	NR	2E-9		0.1	[NR] unit increase	Illumina [476395]	N
2170	chr1	207875174	207875175	rs4844614	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	LDL cholesterol	4,763 Northern Finnish founder individuals	NA	1q32.2	CR1L	rs4844614-A	0.32	2E-7		0.1	[0.06-0.14] mmol/l increase	Illumina [329091]	N
2171	chr1	207930202	207930203	rs2724384	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures	929 European ancestry MMR vaccine-related febrile seizures cases, 1,070 European ancestry MMR vaccine-unrelated febrile seizures cases, 4,118 European ancestry controls	Up to 408 European ancestry MMR vaccine-related febrile seizures cases, Up to 1,034 European ancestry MMR vaccine-unrelated febrile seizures cases, Up to 1,645 European ancestry controls	1q32.2	CD46	rs2724384-A	0.766	2E-9	(MMR-related vs MMR-unrelated)	1.47	[1.30-1.66]	Illumina [up to 8129553] (imputed)	N
2171	chr1	207938235	207938236	rs7545126	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q32.2	CD46	rs7545126-A	0.065	9E-6	(TG )	0.03	[NR] mg/dL increase	Illumina [899892]	N
2171	chr1	207940852	207940853	rs11118555	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	1q32.2	CD46	rs11118555-A	0.124	4E-26		0.612	[0.48-0.75] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
2171	chr1	207977082	207977083	rs7523273	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q32.2	NR	rs7523273-A	NR	4E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
2171	chr1	207977082	207977083	rs7523273	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	1q32.2	C1orf132, CD46, CR1L	rs7523273-A	0.685	4E-8		1.063	[1.040-1.087]	Affymetrix, Illumina [9005918] (imputed)	N
2172	chr1	208014921	208014922	rs1318653	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	1q32.2	CD46, CD34	rs1318653-T	0.774	1E-10		1.43	[1.28-1.59]	Illumina [8129524] (imputed)	N
2172	chr1	208014921	208014922	rs1318653	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures	929 European ancestry MMR vaccine-related febrile seizures cases, 1,070 European ancestry MMR vaccine-unrelated febrile seizures cases, 4,118 European ancestry controls	Up to 408 European ancestry MMR vaccine-related febrile seizures cases, Up to 1,034 European ancestry MMR vaccine-unrelated febrile seizures cases, Up to 1,645 European ancestry controls	1q32.2	intergenic	rs1318653-T	0.771	2E-9	(MMR-related vs MMR-unrelated)	1.48	[1.30-1.67]	Illumina [up to 8129553] (imputed)	N
2172	chr1	208024819	208024820	rs12731740	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Biomedical quantitative traits	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	1q32.2	CD46, LOC148696	rs12731740-T	0.10	3E-9	(pulse rate)	1.09	[0.72-1.44] beats per minute increase	Affymetrix [2156535] (imputed)	N
2172	chr1	208039470	208039471	rs1967689	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	1q32.2	CD34, CD46	rs1967689-?	0.75	5E-6	(EA)	1.18	[1.1-1.25]	Affymetrix, Illumina [~ 2500000] (imputed)	N
2172	chr1	208039470	208039471	rs1967689	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	1q32.2	CD34, CD46	rs1967689-?	0.75	5E-6		1.18	[1.1-1.25]	Affymetrix, Illumina [~ 2500000] (imputed)	N
2172	chr1	208128721	208128722	rs2745967	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	1q32.2	CD34	rs2745967-G	0.37	7E-8		5.4	[3.48-7.32] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2172	chr1	208129064	208129065	rs11578508	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	1q32.2	CD34	rs11578508-A	0.665	4E-10	(Conditonal on rs11118555)	0.51	[0.39-0.63] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
2177	chr1	208757585	208757586	rs17259784	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	1q32.2	PLXNA2	rs17259784-?	NR	6E-6	(recessive)			Affymetrix [361034]	N
2179	chr1	208973632	208973633	rs72748303	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	1q32.2	NR	rs72748303-A	0.023	6E-6		3.33	[1.98-5.60]	Illumina [7261187] (imputed)	N
2179	chr1	208994935	208994936	rs17013497	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	1q32.2	intergenic	rs17013497-T	0.135	7E-6		0.03	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2179	chr1	209002219	209002220	rs12406463	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children	1,686 Bangladeshi women	NA	1q32.2	NR	rs12406463-?		9E-6		0.36	unit decrease	Illumina [1211988] (imputed)	N
2179	chr1	209007777	209007778	rs12408989	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	1q32.2	NR	rs12408989-?		7E-6		0.34	unit decrease	Illumina [1211988] (imputed)	N
2179	chr1	209007777	209007778	rs12408989	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children	1,686 Bangladeshi women	NA	1q32.2	NR	rs12408989-?		3E-6		0.38	unit decrease	Illumina [1211988] (imputed)	N
2182	chr1	209334216	209334217	rs4382726	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	1q32.2	intergenic	rs4382726-?	NR	4E-6	(SF4)			Affymetrix [5476100] (imputed)	N
2184	chr1	209712888	209712889	rs6703183	23624525	Deng M	2013-04-28	Nat Genet	Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	506 Han Chinese ancestry cases, 1,859 Han Chinese ancestry controls	706 Han Chinese ancestry cases, 1,777 Han Chinese ancestry controls	1q32.2	CAMK1G	rs6703183-A	0.3416	3E-8		1.312	[NR]	Illumina [473683]	N
2185	chr1	209727256	209727257	rs12130212	21935397	Paternoster L	2011-09-15	PLoS One	Genome-wide population-based association study of extremely overweight young adults--the GOYA study.	Obesity (extreme)	2,633 European ancestry extremely obese adult cases, 2,740 European ancestry controls	29,181 European ancestry individuals	1q32.2	CAMK1G	rs12130212-T	NR	2E-6				Illumina [545349]	N
2186	chr1	209964079	209964080	rs2235371	25775280	Sun Y	2015-03-16	Nat Commun	Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.	Nonsyndromic cleft lip with or without cleft palate	858 Chinese ancestry cases, 1,248 Chinese ancestry controls	1,663 Chinese ancestry cases,  1,874 Chinese ancestry controls	1q32.2	IRF6	rs2235371-C	NR	9E-22		1.49	[1.37-1.61]	Affymetrix [842556]	N
2186	chr1	209970609	209970610	rs59043219	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease (APOE e4 interaction)	10,352 APOE e4+ cases, 9,207 APOE e4+ controls, 7,184 APOE e4- cases, 26,968 APOE e4- controls	1,250 APOE e4+ European ancestry cases, 536 APOE e4+ European ancestry controls, 718 APOE e4- European ancestry cases, 1,699 APOE e4- European ancestry controls	1q32.2	IRF6	rs59043219-A	0.37	9E-6		1.19	[1.10-1.28]	NR [NR]	N
2186	chr1	209977110	209977111	rs861020	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	1q32.2	IRF6	rs861020-A	NR	3E-12	(Meta-All, NSCL/P)	1.443	[1.273-1.635]	NR [497084]	N
2187	chr1	209988046	209988047	rs10863790	20436469	Beaty TH	2010-05-02	Nat Genet	A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.	Cleft lip	825 European ancestry trios, 1,038 Asian ancestry trios	2,194 Asian ancestry family members, 322 South Asian ancestry family members, 3,830 European ancestry family members, 1,769 South and Central American ancestry family members	1q32.2	IRF6	rs10863790-?	0.80	1E-14		1.72	[1.49-1.98]	Illumina [589945]	N
2187	chr1	209989269	209989270	rs642961	19270707	Birnbaum S	2009-03-08	Nat Genet	Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.	Orofacial clefts	224 European ancestry cases, 383 European ancestry controls	246 cases, 954 controls	1q32.2	IRF6	rs642961-A	NR	2E-6				Illumina [521176]	N
2191	chr1	210536024	210536025	rs7527939	23142968	Betcheva ET	2012-11-07	Psychiatr Genet	Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene.	Schizophrenia	188 European ancestry cases, 376 European ancestry controls	99 European ancestry cases, 328 European ancestry controls	1q32.2	HHAT	rs7527939-C	NR	6E-9		2.63	[1.89-3.66]	Illumina [495089]	N
2194	chr1	210898262	210898263	rs1934620	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	1q32.2	NR	rs1934620-A	.8656	8E-6		4.2462	[NR] unit decrease	Illumina [1200000] (imputed)	N
2196	chr1	211168758	211168759	rs1501550	23381795	Verweij N	2013-02-04	Hypertension	Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.	Circulating vasoactive peptide levels	3,444 European ancestry individuals	3,230 European ancestry individuals	1q32.2	KCNH1	rs1501550-A	0.21	2E-6	(ADM)	0.011	[0.0071-0.0149] nmol/l decrease	Illumina [2269099] (imputed)	N
2200	chr1	211691705	211691706	rs7553035	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	1q32.3	RD3	rs7553035-T	0.07	4E-6		0.37	[0.21-0.53] unit increase	Illumina [2675979] (imputed)	N
2200	chr1	211738466	211738467	rs116493700	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	1q32.3	intergenic	rs116493700-G	0.005	7E-6		7.7	[2.7-21.93]	Illumina [1556551]	N
2201	chr1	211918243	211918244	rs11119805	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		1q32.3	LPGAT1	rs11119805-A	0.123	3E-9		0.168	[0.113-0.223] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2203	chr1	212091947	212091948	rs2808382	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	1q32.3	INTS7	rs2808382-C	0.0469	8E-6		2.7742	[2.33-3.22]	Illumina [8809853] (imputed)	N
2203	chr1	212155007	212155008	rs17018311	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	1q32.3	INTS7	rs17018311-?	NR	2E-8	(Irritable)	4.21	[NR] unit increase	Affymetrix [703012]	N
2204	chr1	212237797	212237798	rs10863936	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1q32.3	DTL	rs10863936-A	0.53	2E-9		0.021	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
2205	chr1	212392162	212392163	rs6540731	23358156	Benyamin B	2013-01-29	Mol Psychiatry	Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.	Intelligence (childhood)	12,441 European ancestry children	5,548 European ancestry children	1q32.3	NR	rs6540731-A	0.415	9E-6		0.05	[0.028-0.072] unit decrease	Affymetrix, Illumina [138093] (imputed)	N
2209	chr1	212873430	212873431	rs2221593	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	1q32.3	BATF3	rs2221593-T	0.203	3E-8		1.15	[NR]	Illumina [4577171] (imputed)	N
2211	chr1	213126564	213126565	rs3002288	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Eye color	3871 European ancestry individuals	2,496 European ancestry individuals	1q32.3	VASH2	rs3002288-A	NR	7E-8	(Brown eye color)	0.22	[0.14-0.30] unit decrease	Affymetrix, Illumina [2469762] (imputed)	N
2214	chr1	213597840	213597841	rs320461	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide	317 European ancestry cases, 1,233 European ancestry controls	NA	1q32.3	intergenic	rs320461-A	0.23	4E-6		1.697	[1.356-2.123]	Illumina [794207]	N
2216	chr1	213834642	213834643	rs4655303	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	1q32.3	intergenic	rs4655303-T	NR	5E-6		0.2187	unit increase	Illumina [5767231] (imputed)	N
2216	chr1	213855587	213855588	rs17706439	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	1q32.3	intergenic	rs17706439-A	0.17	3E-6		0.18	[0.10-0.26] unit increase	Illumina [~ 318327]	N
2217	chr1	213910493	213910494	rs1704198	23818313	Kim HJ	2012-11-06	Obesity (Silver Spring)	Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.	Obesity	756 Mongolian ancestry individuals from 55 families	1,301 Korean ancestry individuals	1q32.3	PROX1	rs1704198-A	0.19	4E-7	(WC)			Illumina [567072]	N
2218	chr1	214118089	214118090	rs340849	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	1q32.3	intergenic	rs340849-?	NR	8E-6		1.69	[1.33-2.13]	Illumina [2505093] (imputed)	N
2218	chr1	214125126	214125127	rs17762192	20064070	Herbeck JT	2010-02-15	J Infect Dis	Multistage genomewide association study identifies a locus at 1q41 associated with rate of HIV-1 disease progression to clinical AIDS.	HIV-1 progression	51 European ancestry rapid progressor male cases, 57 European ancestry moderate progressor male cases, 48 European ancestry long-term progressor male cases	590 European ancestry seroconverter male cases	1q32.3	PROX1	rs17762192-G	0.59	2E-6		1.45	[NR]	Affymetrix [345926]	N
2218	chr1	214147888	214147889	rs7529073	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q32.3	NR	rs7529073-C	NR	6E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
2218	chr1	214154718	214154719	rs2075423	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	1q32.3	PROX1	rs2075423-G	0.66	2E-6		1.08	[1.04-1.12]	Affymetrix, Illumina [2500000] (imputed)	N
2218	chr1	214159255	214159256	rs340874	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	1q32.3	PROX1	rs340874-?	NR	4E-9				Affymetrix, Illumina [~ 2400000] (imputed)	N
2218	chr1	214159255	214159256	rs340874	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	1q32.3	PROX1	rs340874-C	0.52	7E-12	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
2218	chr1	214159255	214159256	rs340874	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	1q32.3	PROX1	rs340874-C	0.52	5E-6	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
2218	chr1	214161819	214161820	rs340839	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	1q32.3	PROX1	rs340839-A	0.47	4E-10		0.039	[0.027-0.051] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2219	chr1	214261349	214261350	rs1440620	23372041	Chu AY	2013-01-30	Hum Mol Genet	Novel locus including FGF21 is associated with dietary macronutrient intake.	Dietary macronutrient intake	33,533 European ancestry individuuals	38,360 European ancestry individuuals	1q32.3	PROXI	rs1440620-T	0.65	1E-6	(Protein - model 2)	0.116	[0.069-0.163] percent decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
2221	chr1	214457008	214457009	rs9308433	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q32.3	NR	rs9308433-C	0.408306478651685	2E-6	(IGP42)	0.1494	[0.088-0.211] unit decrease	Illumina [~ 2500000] (imputed)	N
2221	chr1	214457008	214457009	rs9308433	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q32.3	NR	rs9308433-C	0.408224476833108	4E-6	(IGP2)	0.1457	[0.084-0.207] unit decrease	Illumina [~ 2500000] (imputed)	N
2222	chr1	214618184	214618185	rs4472734	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	1q41	PTPN14	rs4472734-T	0.48	1E-9		0.024	[0.012-0.036] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
2222	chr1	214629615	214629616	rs12757404	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	1q41	PTPN14	rs12757404-A	0.45	2E-6	(TG)	0.01	mmol/L decrease	Affymetrix, Illumina [up to 2249917] (imputed)	N
2222	chr1	214674924	214674925	rs17042140	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Plasma thyroid-stimulating hormone levels	2,789 Korean ancestry individuals	829 Korean ancestry individuals	1q41	PTPN14	rs17042140-T	0.46	4E-6		0.105	[0.060-0.150] uIU/L increase	Affymetrix [1418709] (imputed)	N
2224	chr1	214830616	214830617	rs438034	21659360	Wade R	2011-06-09	Haematologica	Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.	Response to antineoplastic agents	356 European ancestry cases	380 European ancestry cases	1q41	CENPF	rs438034-T	NR	5E-6		1.88	[1.44-2.46]	Illumina [326385]	N
2224	chr1	214954938	214954939	rs6695352	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	1q41	intergenic	rs6695352-?	0.5	4E-6		1.1	[1.05-1.15]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2233	chr1	216056347	216056348	rs17025548	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q41	NR	rs17025548-G	0.165189309375	8E-6	(IGP10)	0.1954	[0.11-0.28] unit decrease	Illumina [~ 2500000] (imputed)	N
2233	chr1	216136619	216136620	rs3845529	25234806	Dijkstra AE	2014-09-18	Eur Respir J	Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.	Chronic mucus hypersecretion	342 European ancestry cases, 1,006 European ancestry controls	130 European ancestry cases, 2,313 European ancestry controls	1q41	USH2A	rs3845529-?	0.58	3E-6		1.45	[NR]	Illumina [522636]	N
2236	chr1	216504268	216504269	rs7532570	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q41	NR	rs7532570-G	0.0626114699331849	6E-6	(IGP49)	0.2924	[0.17-0.42] unit increase	Illumina [~ 2500000] (imputed)	N
2237	chr1	216632947	216632948	rs10495024	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Testosterone levels	1,589 European ancestry female individuals	NA	1q41	intergenic	rs10495024-C	0.36	6E-6		0.103	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
2238	chr1	216716319	216716320	rs12145418	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	1q41	ESRRG	rs12145418-T	0.274	2E-6	(Recessive model)	1.331	[1.104-1.604]	Illumina [733202]	N
2238	chr1	216716536	216716537	rs12757165	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	1q41	ESRRG	rs12757165-?	NR	1E-7	(additive)			Affymetrix [361034]	N
2238	chr1	216738787	216738788	rs7553212	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		1q41	ESRRG	rs7553212-?	0.32	7E-6		0.07	[0.031-0.109] unit increase	Illumina [4058415] (imputed)	N
2238	chr1	216756820	216756821	rs17669622	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Mean arterial pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	1q41	ESRRG	rs17669622-A	0.25	9E-7	(drinks/week)	0.094	[0.049-0.139] unit decrease	Affymetrix [2500000] (imputed)	N
2241	chr1	217058478	217058479	rs1436900	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	1q41	ESRRG	rs1436900-T	NR	7E-6		0.142	[0.058-0.226] unit decrease	Illumina [~ 2740000] (imputed)	N
2242	chr1	217200882	217200883	rs2377360	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	1q41	ESRRG	rs2377360-G	0.2632403	9E-6	(remission - SSRI treated - 12 weeks)	1.6	[1.39-1.81]	Affymetrix, Illumina [1200000] (imputed)	N
2243	chr1	217356400	217356401	rs2221285	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	1q41	ESRRG	rs2221285-?	NR	9E-6	(EA)	2.15	[1.19-3.11] unit increase	Affymetrix, Illumina [2033301]	N
2244	chr1	217527023	217527024	rs1497828	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	1q41	ESRRG, GPATCH2	rs1497828-?	0.63	4E-6		1.41	[1.22-1.64]	Affymetrix [832357]	N
2246	chr1	217718131	217718132	rs2059397	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1q41	GPATCH2	rs2059397-G	0.03	6E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
2247	chr1	217914388	217914389	rs12120588	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	1q41	SPATA17	rs12120588-T	0.42	6E-6	(women)	0.077	[0.044-0.11] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
2252	chr1	218598468	218598469	rs4846480	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (severe)	3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls	2,651 cases and their relatives	1q41	TGFB2	rs4846480-A	0.75	8E-9				Illumina [up to 701491] (imputed)	N
2252	chr1	218604677	218604678	rs1890995	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	1q41	TGFB2	rs1890995-A	0.73	6E-13		0.033	[0.019-0.047] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
2252	chr1	218609701	218609702	rs6684205	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1q41	TGFB2	rs6684205-A	0.71	2E-12		0.028	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
2252	chr1	218615450	218615451	rs991967	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1q41	TGFB2	rs991967-A	0.717	2E-26		0.034	[0.028-0.040] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2253	chr1	218635078	218635079	rs7512679	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	1q41	TGFB2	rs7512679-T	NR	5E-7	(%LAA-950, All)	0.092	[0.057-0.127] unit increase	Illumina [7600000] (imputed)	N
2253	chr1	218698026	218698027	rs1690789	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	1q41	TGFB2	rs1690789-C	0.51	8E-9	(Moderate Centrilobular)	0.02	[0.016-0.024] unit decrease	Illumina [6942916] (imputed)	N
2253	chr1	218698026	218698027	rs1690789	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	1q41	TGFB2	rs1690789-C	0.51	7E-9	(normal, EA)	0.03	[0.022-0.038] unit increase	Illumina [6942916] (imputed)	N
2253	chr1	218698026	218698027	rs1690789	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	1q41	TGFB2	rs1690789-C	0.51	3E-9	(Moderate Centrilobular, EA)	0.02	[0.016-0.024] unit decrease	Illumina [6942916] (imputed)	N
2253	chr1	218698026	218698027	rs1690789	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	1q41	TGFB2	rs1690789-C	0.51	3E-8	(normal)	0.03	[0.022-0.038] unit increase	Illumina [6942916] (imputed)	N
2253	chr1	218705813	218705814	rs1018040	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	1q41	intergenic	rs1018040-?	NR	8E-6	(binary)			Perlegen [429981]	N
2253	chr1	218705813	218705814	rs1018040	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	1q41	intergenic	rs1018040-?	NR	5E-6	(binary)			Perlegen [429981]	N
2254	chr1	218844905	218844906	rs1159268	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	1q41	LOC643723, LOC728463, RRP15, TGFB2	rs1159268-A	0.3513	4E-8		1.17	[1.08-1.26]	Illumina [7300000] (imputed)	N
2254	chr1	218860067	218860068	rs993925	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	1q41	TGFB2	rs993925-T	0.31	1E-8	(FEV1/FVC)	0.034	[0.022-0.046] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2255	chr1	218931904	218931905	rs12037343	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	1q41	LOC643723	rs12037343-T	0.0609	3E-6		2.2172	[NR] unit increase	Illumina [1216189] (imputed)	N
2255	chr1	218975474	218975475	rs12411277	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1q41	TGFB2	rs12411277-A	0.368	2E-13		0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2255	chr1	218995272	218995273	rs7552186	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	1q41	LYPLAL1	rs7552186-C	0.62	3E-8		1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
2260	chr1	219644223	219644224	rs2605100	19557161	Lindgren CM	2009-06-26	PLoS Genet	Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.	Adiposity	38,580 European ancestry individuals	Up to 102,064 European ancestry individuals	1q41	LYPLAL1	rs2605100-G	0.692	3E-8	(WHR in women)	0.04	[0.03-0.05] z-score unit increase	Affymetrix, Illumina [2573738] (imputed)	N
2260	chr1	219651132	219651133	rs12022722	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1q41	LYPLAL1	rs12022722-T	0.47	2E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
2260	chr1	219657162	219657163	rs11118316	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1q41	LYPLAL1	rs11118316-A	0.44	3E-9	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
2260	chr1	219673827	219673828	rs1417066	22763110	Loughlin	2012-07-03	Lancet	Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.	Osteoarthritis	7,410 European ancestry cases, 11,009 European ancestry controls	7,473 European ancestry cases, 42,938 European ancestry controls	1q41	NR	rs1417066-G	NR	1E-6		1.07	[1.04-1.10]	Illumina [485491]	N
2260	chr1	219676041	219676042	rs2791553	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	1q41	LYPLAL1	rs2791553-G	0.60	5E-7		0.02	[0.012-0.028] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2261	chr1	219693219	219693220	rs2820464	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Waist-hip ratio	4,774 European ancestry high waist-to-hip ratio individuals, 5,481 European ancestry low waist-to-hip ratio individuals	3,351 European ancestry high waist-to-hip ratio individuals, 3,352 European ancestry low waist-to-hip ratio individuals	1q41	LYPLAL1	rs2820464-G	0.66	7E-9		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
2261	chr1	219700518	219700519	rs2785980	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	1q41	LYPLAL1	rs2785980-?		2E-8				Affymetrix, Illumina [~ 2400000] (imputed)	N
2261	chr1	219727778	219727779	rs3001032	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	1q41	LYPLAL1	rs3001032-T	0.70	4E-8		0.02	[0.012-0.028] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2261	chr1	219743718	219743719	rs11118346	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1q41	LYPLAL1	rs11118346-T	0.47	2E-12		0.025	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
2261	chr1	219748817	219748818	rs2820446	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	1q41	LYPLAL1	rs2820446-C		2E-6		1.05	[1.03-1.07]	Affymetrix, Illumina [2500000] (imputed)	N
2261	chr1	219750716	219750717	rs4846567	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	1q41	LYPLAL1	rs4846567-G	0.71	7E-21		0.03	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
2261	chr1	219753508	219753509	rs2820443	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q41	LYPLAL1	rs2820443-T	0.7209	5E-20		0.0337	[0.026-0.041] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
2261	chr1	219753508	219753509	rs2820443	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q41	LYPLAL1	rs2820443-T	0.7204	3E-35	(women)	0.0613	[0.051-0.071] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
2261	chr1	219753508	219753509	rs2820443	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q41	LYPLAL1	rs2820443-T	0.7168	6E-35	(EA, women)	0.0616	[0.052-0.071] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
2261	chr1	219753508	219753509	rs2820443	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	1q41	LYPLAL1	rs2820443-T	0.7167	5E-21	(EA)	0.0349	[0.028-0.042] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
2261	chr1	219753508	219753509	rs2820443	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	1q41	LYPLAL1, SLC30A10, ZC3H11B	rs2820443-T		7E-16	(WHRadjBMI, women)			Affymetrix, Illumina [2846694] (imputed)	N
2261	chr1	219775431	219775432	rs994767	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	1q41	LOC388739, LOC728518, ZC3H11B	rs994767-A	0.4085	1E-11		0.0716	[0.051-0.092] unit decrease	Illumina [2500000] (imputed)	N
2268	chr1	220601622	220601623	rs7512221	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	1q41	MARK1	rs7512221-G	0.04	7E-6	(univariate, lower trunk)			Illumina [319818]	N
2268	chr1	220658233	220658234	rs12563333	22205951	Kerner B	2011-12-21	PLoS One	Genome-wide association study in bipolar patients stratified by co-morbidity.	Bipolar disorder	1,000 European ancestry cases, 1,034 European ancestry controls	NA	1q41	MARK1	rs12563333-?	NR	6E-8	(Latent Class 1)			Affymetrix [728331]	N
2270	chr1	220914919	220914920	rs337161	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	1q41	intergenic	rs337161-?	NR	3E-6	(SAS)			Affymetrix [492000]	N
2270	chr1	220929355	220929356	rs1494373	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	1q41	MOSC2	rs1494373-?	NR	6E-6	(SAS)			Affymetrix [492000]	N
2270	chr1	220973562	220973563	rs2642442	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1q41	MOSC1	rs2642442-C	0.33	5E-11		0.036	[NR] unit decrease	NR [NR] (imputed)	N
2270	chr1	220973562	220973563	rs2642442	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	1q41	MOSC1	rs2642442-C	0.33	3E-11		0.035	[NR] unit decrease	NR [NR] (imputed)	N
2270	chr1	220973562	220973563	rs2642442	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	1q41	MOSC1	rs2642442-T	0.32	6E-11		1.09	[0.7-1.48] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2270	chr1	220973562	220973563	rs2642442	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	1q41	MOSC1	rs2642442-T	0.32	5E-13		1.38	[0.95-1.81] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2270	chr1	220975336	220975337	rs1874124	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	1q41	MOSC1	rs1874124-C	0.86	5E-10		0.054	[0.036-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2270	chr1	220977332	220977333	rs6693017	21493818	Shaw SY	2011-04-21	Circ Cardiovasc Genet	Genetic and clinical correlates of early-outgrowth colony-forming units.	Monocyte early outgrowth colony forming units	1,654 European ancestry individuals	NA	1q41	MOSC1	rs6693017-G	0.15	3E-7		0.24	[0.14-0.34] unit increase	Affymetrix [~ 2500000] (imputed)	N
2271	chr1	221010204	221010205	rs12073837	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	1q41	MOSC1	rs12073837-T	0.19	2E-6		1.39	[0.82-1.96] unit increase	Illumina [660740]	N
2271	chr1	221028507	221028508	rs11118620	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	1q41	LOC100129376	rs11118620-?	0.29	7E-6	(EA)	1.15	[0.98-1.35]	Affymetrix, Illumina [2478304] (imputed)	N
2271	chr1	221111779	221111780	rs7542375	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q41	HLX	rs7542375-C	0.431	2E-6	(Total cysteine )	0.02	[NR] umol/L increase	Illumina [899892]	N
2275	chr1	221551538	221551539	rs12733856	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	1q41	LOC400804	rs12733856-A	0.382	3E-6	(AA)	1.56	[0.97-2.51]	Affymetrix [up to 2366858] (imputed)	N
2275	chr1	221617075	221617076	rs12032381	20971583	Ojwang JO	2010-10-22	J Hand Surg Am	Genome-wide association scan of Dupuytren's disease.	Dupuytren's disease	37 European ancestry cases, 36 European ancestry controls	NA	1q41	LOC100132626	rs12032381-C	0.083	6E-6		6.22	[2.37-16.31]	Illumina [251837]	N
2279	chr1	222045445	222045446	rs6691170	20972440	Houlston RS	2010-10-24	Nat Genet	Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.	Colorectal cancer	3,334 European ancestry cases, 4,628 European ancestry controls	14,851 European ancestry cases, 15,569 European ancestry controls	1q41	DUSP10	rs6691170-T	NR	1E-9		1.06	[1.03-1.09]	Illumina [up to 550000] (imputed)	N
2279	chr1	222061021	222061022	rs11118883	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	1q41	DUSP10	rs11118883-A	0.35	5E-6		1.12	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
2279	chr1	222164947	222164948	rs6687758	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	1q41	DUSP10	rs6687758-G	0.24	9E-9	(East Asian)	1.12	[1.08-1.17]	Affymetrix, Illumina [2400000] (imputed)	N
2279	chr1	222164947	222164948	rs6687758	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	1q41	intergenic	rs6687758-?	0.81	6E-8		1.27	[1.16-1.39]	Illumina [531451]	N
2279	chr1	222164947	222164948	rs6687758	20972440	Houlston RS	2010-10-24	Nat Genet	Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.	Colorectal cancer	3,334 European ancestry cases, 4,628 European ancestry controls	14,851 European ancestry cases, 15,569 European ancestry controls	1q41	DUSP10	rs6687758-G	NR	2E-9		1.09	[1.06-1.12]	Illumina [up to 550000] (imputed)	N
2280	chr1	222195001	222195002	rs2378497	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	1q41	DUSP10	rs2378497-G	0.08	4E-6	(AA)	0.33	[0.19-0.47] unit increase	Illumina [up to 905285]	N
2280	chr1	222245257	222245258	rs10863681	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	1q41	intergenic	rs10863681-G		6E-6		0.2262	unit increase	Illumina [5767231] (imputed)	N
2280	chr1	222271766	222271767	rs873549	20711176	Nakashima M	2010-08-15	Nat Genet	A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.	Keloid	178 Japanese ancestry cases, 906 Japanese ancestry controls	621 Japanese ancestry cases, 2,271 Japanese ancestry controls	1q41	intergenic	rs873549-C	0.28	6E-23		1.77	[1.58-1.99]	Illumina [452038]	N
2284	chr1	222788061	222788062	rs3002142	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	1q41	intergenic	rs3002142-G	0.145640074211503	7E-6		0.050391905	[0.028-0.072] unit decrease	Illumina [1632371] (imputed)	N
2285	chr1	222823528	222823529	rs17465637	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	1q41	MIA3	rs17465637-C	0.74	1E-8		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2285	chr1	222823528	222823529	rs17465637	19198609	Kathiresan S	2009-02-08	Nat Genet	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Myocardial infarction (early onset)	2,967 European ancestry cases, 3,075 European ancestry controls	9,746 European ancestry cases, 9,746 European ancestry controls	1q41	MIA3	rs17465637-C	0.72	1E-9		1.14	[1.10-1.19]	Affymetrix [~ 2500000] (imputed)	N
2285	chr1	222823528	222823529	rs17465637	17634449	Samani NJ	2007-07-18	N Engl J Med	Genomewide association analysis of coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	875 European ancestry cases, 1,644 European ancestry controls	1q41	MIA3	rs17465637-C	0.71	1E-6		1.2	[1.12-1.30]	Affymetrix [377857]	N
2285	chr1	222923350	222923351	rs6683071	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	1q41	FAM177B	rs6683071-?	0.2016	4E-6	(PC1)			Illumina [475971]	N
2293	chr1	223906826	223906827	rs7539624	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q41	NR	rs7539624-A	NR	8E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
2293	chr1	223920444	223920445	rs140084787	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	1q41	CAPN2	rs140084787-C	0.982	6E-6		3.25	[1.95-5.41]	Illumina [8129524] (imputed)	N
2293	chr1	223977518	223977519	rs12723025	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	1q41	TP53BP2	rs12723025-?	NR	9E-6		0.56	unit increase	NR [at least 1978803] (imputed)	N
2295	chr1	224256347	224256348	rs10916248	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	1q42.11	FBX028	rs10916248-A	0.8	5E-6	(Sulfonylurea Hypoglycemic agents)			Affymetrix, Illumina [~ 2500000] (imputed)	N
2298	chr1	224538939	224538940	rs11579964	21042317	Wray NR	2010-11-02	Mol Psychiatry	Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.	Major depressive disorder	2,431 European ancestry cases, 3,673 European ancestry controls	3,332 European ancestry cases, 3,228 European ancestry controls	1q42.11	CNIH4, NVL, WDR26	rs11579964-C	0.84	4E-6		1.19	[NR]	Affymetrix, Illumina [1251157] (imputed)	N
2306	chr1	225590674	225590675	rs16844841	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q42.12	NR	rs16844841-C	0.0583146565158979	4E-6	(IGP11)	0.3163	[0.18-0.45] unit increase	Illumina [~ 2500000] (imputed)	N
2306	chr1	225592926	225592927	rs16844846	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q42.12	NR	rs16844846-G	0.0584601113241195	4E-6	(IGP61)	0.3154	[0.18-0.45] unit decrease	Illumina [~ 2500000] (imputed)	N
2306	chr1	225592926	225592927	rs16844846	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q42.12	NR	rs16844846-G	0.0583315441465594	6E-6	(IGP58)	0.311	[0.18-0.45] unit decrease	Illumina [~ 2500000] (imputed)	N
2308	chr1	225901005	225901006	rs10915864	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q42.12	ENAH	rs10915864-G	0.264	2E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
2309	chr1	226082424	226082425	rs1223245	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	1q42.12	NR	rs1223245-A	0.3578	5E-6		0.11	[0.061-0.15] unit increase	Affymetrix, Illumina [2403520] (imputed)	N
2313	chr1	226564690	226564691	rs3219090	21983785	Macgregor S	2011-10-09	Nat Genet	Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.	Melanoma	2,168 European ancestry cases, 4,387 European ancestry controls	5,193 European ancestry cases, 15,144 European ancestry controls	1q42.12	PARP1	rs3219090-C	0.67	9E-8		1.15	[NR]	Illumina [5480804] (imputed)	N
2315	chr1	226790000	226790001	rs41314284	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q42.12	NR	rs41314284-T	NR	2E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
2315	chr1	226855888	226855889	rs10916025	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	1q42.12	ITPKB	rs10916025-G	0.80	6E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
2317	chr1	227018918	227018919	rs6692729	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	1q42.13	intergenic	rs6692729-?	NR	7E-6	(SCR Amplitude)	0.02	[0.010-0.030] unit decrease	Illumina [527829]	N
2319	chr1	227386970	227386971	rs6671926	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	1q42.13	CDC42BPA	rs6671926-A	0.08	4E-14		0.067	[0.049-0.085] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2319	chr1	227386970	227386971	rs6671926	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	1q42.13	CDC42BPA	rs6671926-A	0.08	2E-12	(EA)	0.067	[0.047-0.087] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2319	chr1	227386970	227386971	rs6671926	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	1q42.13	CDC42BPA	rs6671926-A	0.08	2E-7		0.025	[0.015-0.035] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
2321	chr1	227667789	227667790	rs12410462	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	1q42.13	intergenic	rs12410462-A	0.122	4E-7	(% improvement - 12 weeks)	1.259	[1.16-1.36]	Affymetrix, Illumina [1200000] (imputed)	N
2322	chr1	227750067	227750068	rs6696239	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	1q42.13	ZNF678	rs6696239-A	0.187	7E-24		0.038	[0.03-0.046] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2322	chr1	227797949	227797950	rs1390401	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	1q42.13	ZNF678	rs1390401-A	0.82	5E-9		0.04	[0.01-0.08] s.d. increase (males)	Affymetrix [402951]	N
2323	chr1	227911882	227911883	rs10799445	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	1q42.13	JMJD4	rs10799445-A	0.77	2E-13		0.032	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
2325	chr1	228153916	228153917	rs849898	26227905	Hu Y	2015-07-31	Mol Neurobiol	A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.	Parkinson's disease	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	1q42.13	WNT9A, LOC728728	rs849898-?	NR	1E-6		2.73	[1.96-3.79]	Illumina [862198]	N
2328	chr1	228585561	228585562	rs564309	25271088	Singh A	2014-10-01	Eur J Hum Genet	Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.	Hip circumference (psychosocial stress interaction)	2,460 European ancestry individuals, 548 Chinese ancestry individuals,   1,547 African American individuals, 1,250 Hispanic individuals	3,157 European ancestry individuals	1q42.13	TRIM11	rs564309-?	NR	4E-6	(Hispanics)			Affymetrix [528298]	N
2329	chr1	228703288	228703289	rs1925714	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	1q42.13	RNF187	rs1925714-G	0.86	2E-7		2.8571	[NR]	Affymetrix [up to 4467279] (imputed)	N
2331	chr1	228880114	228880115	rs6426514	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	1q42.13	RHOU	rs6426514-A	0.06	2E-6	(Punjabi Sikhs)	1.51	[1.27 - 1.78]	Illumina [1232008] (imputed)	N
2332	chr1	228996621	228996622	rs801112	20844546	Adachi S	2010-09-16	J Hum Genet	Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population.	Endometriosis	696 Japanese ancestry cases, 825 Japanese ancestry controls	NA	1q42.13	RHOU	rs801112-C	0.11	5E-6		1.65	[1.33-2.05]	Affymetrix [282838]	N
2332	chr1	228997834	228997835	rs801114	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	1q42.13	RHOU	rs801114-G	0.33	8E-14		1.23	[NR]	Illumina [24988228] (imputed)	N
2332	chr1	228997834	228997835	rs801114	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	1q42.13	RHOU	rs801114-G		2E-13		1.25	[1.17-1.32]	Illumina [38500000] (imputed)	N
2332	chr1	228997834	228997835	rs801114	18849993	Stacey SN	2008-10-12	Nat Genet	Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.	Basal cell carcinoma	930 European ancestry cases, 33,117 European ancestry controls	1,216 European ancestry cases, 2,844 European ancestry controls	1q42.13	RHOU	rs801114-G	0.33	6E-12		1.28	[1.19-1.37]	Illumina [304083]	N
2332	chr1	229019147	229019148	rs11585386	22773346	Edwards DR	2012-07-07	Age (Dordr)	Linkage and association of successful aging to the 6q25 region in large Amish kindreds.	Aging	263 Amish individuals aged 80 years or older	NA	1q42.13	RHOU, RAB4A	rs11585386-?	0.05	5E-6				Affymetrix [630309]	N
2334	chr1	229285857	229285858	rs9793739	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	1q42.13	RHOU	rs9793739-?	NR	5E-7	(Comparatively Older)			Affymetrix, Illumina [~ 1400000] (imputed)	N
2334	chr1	229285857	229285858	rs9793739	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	1q42.13	LOC648390, RHOU	rs9793739-?	NR	4E-6				Affymetrix, Illumina [~ 1400000] (imputed)	N
2334	chr1	229336845	229336846	rs16849553	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Mean arterial pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	1q42.13	RAB4A	rs16849553-C	0.009	7E-7	(Oz alcohol/week)	1.452	[0.95-1.95] unit increase	Affymetrix [2500000] (imputed)	N
2337	chr1	229718000	229718001	rs12049351	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (plasma)	9,260 European ancestry individuals		1q42.13	ABCB10, TAF5L, URB2, GALNT2GALNT2	rs12049351-C	0.79	1E-6		0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [2421770]	N
2338	chr1	229804994	229804995	rs10495285	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	1q42.13	KIAA0133, URB2	rs10495285-?		4E-7				Affymetrix, Illumina [1348798]	N
2341	chr1	230272623	230272624	rs11807834	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q42.13	NR	rs11807834-A	NR	8E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
2341	chr1	230281155	230281156	rs4846835	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	1q42.13	GALNT2	rs4846835-A	0.1984	4E-6	(Complete)	0.4595	[0.26-0.66] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2341	chr1	230281155	230281156	rs4846835	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	1q42.13	GALNT2	rs4846835-A	0.1959	2E-6	(Primary)	0.3966	[0.23-0.56] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2342	chr1	230294915	230294916	rs2144300	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		1q42.13	GALNT2	rs2144300-C	0.39	3E-6		0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [2397181]	N
2342	chr1	230294915	230294916	rs2144300	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	Triglycerides	8,684 European ancestry individuals	9,741 European ancestry individuals	1q42.13	GALNT2	rs2144300-C	0.40	8E-7		4.25	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
2342	chr1	230294915	230294916	rs2144300	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	1q42.13	GALNT2	rs2144300-T	0.6	3E-14		1.11	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
2342	chr1	230295690	230295691	rs4846914	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	1q42.13	GALNT2	rs4846914-G	0.41	7E-31		0.04	[NR] mg/dL increase	NR [NR] (imputed)	N
2342	chr1	230295690	230295691	rs4846914	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1q42.13	GALNT2	rs4846914-G	0.41	4E-41		0.048	[NR] unit decrease	NR [NR] (imputed)	N
2342	chr1	230295690	230295691	rs4846914	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	1q42.13	GALNT2	rs4846914-G	0.39	2E-14		2.76	[2.02-3.5] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2342	chr1	230295690	230295691	rs4846914	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	1q42.13	GALNT2	rs4846914-G	0.4	4E-21		0.61	[0.47-0.75] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2342	chr1	230295690	230295691	rs4846914	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	1q42.13	GALNT2	rs4846914-G	0.40	4E-8		0.05	[0.01-0.09] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
2342	chr1	230295690	230295691	rs4846914	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	HDL cholesterol	2,758 individuals	18,544 individuals	1q42.13	GALNT2	rs4846914-G	0.40	2E-13		0.07	[0.05-0.09] percentage SD decrease	Affymetrix [389878]	N
2342	chr1	230295690	230295691	rs4846914	18193044	Kathiresan S	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	Triglycerides	2,758 individuals	18,544 individuals	1q42.13	GALNT2	rs4846914-G	0.40	7E-15		0.08	[0.06-0.10] percentage SD increase	Affymetrix [389878]	N
2342	chr1	230295788	230295789	rs10127775	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	1q42.13	GALNT2	rs10127775-?	0.44	1E-9				Illumina [~ 2000000] (imputed)	N
2342	chr1	230304913	230304914	rs10864728	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	1q42.13	GALNT2	rs10864728-A	0.39	5E-16		0.052	[0.04-0.064] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2342	chr1	230304987	230304988	rs10489615	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	1q42.13	GALNT2	rs10489615-G	0.60	4E-9		0.02	[0.01-0.03] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
2342	chr1	230307181	230307182	rs4846922	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	1q42.13	GALNT2	rs4846922-T	0.39	4E-8	(HDL)	0.08	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
2342	chr1	230307221	230307222	rs4846923	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	1q42.13	GALNT2	rs4846923-G	0.71	1E-16		0.055	[0.041-0.069] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2342	chr1	230388988	230388989	rs3761944	23303382	Hong KW	2013-01-10	J Hum Genet	Genome-wide association study of serum albumin:globulin ratio in Korean populations.	Hematology traits	4,637 East Asian ancestry individuals	4,205 East Asian ancestry individuals	1q42.13	GALNT2	rs3761944-C	0.224	8E-6	(ALB/GLB)	0.016	[0.0082-0.0238] unit increase	Affymetrix [290659]	N
2344	chr1	230674825	230674826	rs701157	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	1q42.2	LOC729257	rs701157-C	0.45	4E-6				Perlegen [378332]	N
2346	chr1	230922950	230922951	rs12038826	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		1q42.2	CAPN9	rs12038826-?	0.071	7E-6			[NR]	Affymetrix, Illumina [152234]	N
2348	chr1	231172280	231172281	rs4074493	24954085	Della-Morte D	2014-06-14	J Neurol Sci	Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.	Carotid plaque burden (smoking interaction)	665 Hispanic individuals	264 Hispanic indivduals	1q42.2	FAM89A	rs4074493-C	0.44	7E-6		0.36	[0.20-0.52] unit increase	Affymetrix [722379]	N
2349	chr1	231270635	231270636	rs12023396	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q42.2	TRIM67	rs12023396-G	0.181	4E-7	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
2353	chr1	231816841	231816842	rs12042938	21483430	Carless MA	2011-04-12	Mol Psychiatry	Impact of DISC1 variation on neuroanatomical and neurocognitive phenotypes.	Neuranatomic and neurocognitive phenotypes	857 Mexican American individuals	NA	1q42.2	DISC1	rs12042938-C	0.48	4E-36				Illumina [543031]	N
2353	chr1	231844346	231844347	rs12044355	19118814	Beecham GW	2009-01-03	Am J Hum Genet	Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.	Alzheimer's disease	492 European ancestry cases, 496 European ancestry controls	238 European ancestry cases, 220 European ancestry controls	1q42.2	DISC1	rs12044355-?	NR	9E-6				Illumina [~ 2500000] (imputed)	N
2354	chr1	231899703	231899704	rs2793086	21659360	Wade R	2011-06-09	Haematologica	Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.	Response to antineoplastic agents	356 European ancestry cases	380 European ancestry cases	1q42.2	DISC1	rs2793086-C	NR	9E-6		3.01	[1.51-6.01]	Illumina [326385]	N
2356	chr1	232155150	232155151	rs16856202	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	1q42.2	DISC1	rs16856202-C	0.04	8E-6	(susceptibilty)	2.0	[NR]	Illumina [288357]	N
2356	chr1	232246026	232246027	rs10746514	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	1q42.2	SIA1L2, DISC2, DISC1	rs10746514-A	0.42	1E-6	(LDL, sum)			Illumina [~ 2500000] (imputed)	N
2358	chr1	232444454	232444455	rs9725031	24677629	Wolf EJ	2014-03-27	Depress Anxiety	A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.	Post-traumatic stress disorder	484 European ancestry trauma-exposed individuals	NA	1q42.2	SIPA1L2	rs9725031-?		8E-6		1.13	[0.64-1.62] unit increase	Illumina [1197702]	N
2358	chr1	232519149	232519150	rs669408	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	1q42.2	SIPA1L2	rs669408-C	0.41	1E-6		1.33	[1.18-1.49]	Illumina [2057134] (imputed)	N
2360	chr1	232664610	232664611	rs10797576	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	1q42.2	SIPA1L2	rs10797576-T	0.14	5E-10		1.131	[1.09-1.17]	Illumina [7893274] (imputed)	N
2360	chr1	232669271	232669272	rs11589828	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	1q42.2	LOC729336	rs11589828-?	NR	8E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
2360	chr1	232756025	232756026	rs10495332	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	1q42.2	SIPA1L2	rs10495332-T	0.0227	8E-6		4.119	[NR] unit decrease	Illumina [1216189] (imputed)	N
2364	chr1	233294776	233294777	rs7550169	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	1q42.2	PCNXL2	rs7550169-C	0.312	2E-6	(EA, women)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2365	chr1	233339210	233339211	rs4649444	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	1q42.2	PCNXL2	rs4649444-A	0.205	1E-6	(n-6 PUFA)			Affymetrix [590000]	N
2365	chr1	233340153	233340154	rs12027542	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	1q42.2	PCNXL2	rs12027542-A	0.61	4E-7	(Malay)	1.41	[1.23-1.61]	Illumina [~ 2000000] (imputed)	N
2367	chr1	233643855	233643856	rs10910200	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	1q42.2	KIAA1804, KCNK1	rs10910200-G	0.25	6E-6		1.35	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
2368	chr1	233719983	233719984	rs11800854	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	1q42.2	KIAA1804, KCNK1	rs11800854-G	0.947	4E-6	(A. actino)	8.12	[2.73-24.11]	Affymetrix [~ 2500000] (imputed)	N
2368	chr1	233719983	233719984	rs11800854	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	1q42.2	KIAA1804, KCNK1	rs11800854-G	0.947	3E-7	(Red)	12.3	[3.70-41.3]	Affymetrix [~ 2500000] (imputed)	N
2374	chr1	234583617	234583618	rs10489896	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	1q42.2	TARBP1	rs10489896-?	NR	6E-6	(F2)			Affymetrix [70897]	N
2375	chr1	234662889	234662890	rs271738	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder	836 European ancestry cases, 2,093 European ancestry controls	NA	1q42.2	IRF2BP2	rs271738-A	NR	5E-6		1.32	[NR]	Affymetrix [745006]	N
2375	chr1	234726011	234726012	rs744487	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	1q42.2	intergenic	rs744487-A	0.72	5E-6		0.069	[0.039-0.099] unit decrease	Affymetrix [~ 2740000] (imputed)	N
2375	chr1	234726355	234726356	rs11581667	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q42.2	NR	rs11581667-C	0.745277716510903	4E-6	(IGP64)	0.196	[0.11-0.28] unit increase	Illumina [~ 2500000] (imputed)	N
2376	chr1	234816553	234816554	rs482329	22247754	Murray SS	2012-01-11	PLoS One	Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias.	Life threatening arrhythmia	607 European ancestry cases, 297 European ancestry controls	NA	1q42.3	IRF2BP2	rs482329-C	0.61	6E-6		1.6		Illumina [NR] (imputed)	N
2376	chr1	234853267	234853268	rs557933	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	1q42.3	IRF2BP2	rs557933-C	0.54	2E-16		0.049	[0.037-0.061] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2376	chr1	234858596	234858597	rs514230	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	1q42.3	IRF2BP2	rs514230-T	0.54	1E-11		0.041	[0.029-0.053] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2376	chr1	234858596	234858597	rs514230	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	1q42.3	IRF2BP2	rs514230-A	0.48	9E-12		0.036	[NR] unit decrease	NR [NR] (imputed)	N
2376	chr1	234858596	234858597	rs514230	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	1q42.3	IRF2BP2	rs514230-A	0.48	5E-14		0.039	[NR] unit decrease	NR [NR] (imputed)	N
2376	chr1	234858596	234858597	rs514230	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	1q42.3	IRF2BP2, TOMM20	rs514230-A	0.48	9E-12		1.13	[0.78-1.48] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2376	chr1	234858596	234858597	rs514230	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	1q42.3	IRF2BP2, TOMM20	rs514230-A	0.48	5E-14		1.36	[0.97-1.75] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2377	chr1	234984987	234984988	rs2069084	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	1q42.3	intergenic	rs2069084-?	NR	6E-6	(progression)			Illumina [NR]	N
2378	chr1	235033235	235033236	rs6586354	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio)	Up to 829 European ancestry cases	NA	1q42.3	intergenic	rs6586354-A	0.226	1E-7		0.2802	[NR] unit decrease	Affymetrix [686595]	N
2378	chr1	235092599	235092600	rs908327	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	1q42.3	TOMM20	rs908327-C		5E-10	(AA)			Illumina [NR]	N
2379	chr1	235267126	235267127	rs11577354	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q42.3	TOMM20	rs11577354-G	0.445	7E-6	(RQmax)	0.04	[NR] increase	Illumina [899892]	N
2382	chr1	235600128	235600129	rs6429082	19557161	Lindgren CM	2009-06-26	PLoS Genet	Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.	Adiposity	38,580 European ancestry individuals	Up to 102,064 European ancestry individuals	1q42.3	TBCE	rs6429082-C	0.46	3E-7	(WC)			Affymetrix, Illumina [2573738] (imputed)	N
2383	chr1	235720897	235720898	rs291353	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	1q42.3	GNG4	rs291353-?	NR	6E-6	(age at natural menopause)			Affymetrix [70897]	N
2386	chr1	236179868	236179869	rs3768080	21478494	Nan H	2011-04-09	Hum Mol Genet	Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.	Cutaneous nevi	9,136 European ancestry individuals	3,581 European ancestry individuals	1q42.3	NID1	rs3768080-A	0.51	7E-8		0.07	[0.05-0.09] unit decrease	Affymetrix, Illumina [2318094] (imputed)	N
2386	chr1	236186696	236186697	rs12401457	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	1q42.3	NID1	rs12401457-G	0.88	9E-6	(men)	0.097	[0.054-0.14] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
2387	chr1	236313126	236313127	rs7520258	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	1q42.3	GPR137B	rs7520258-?	0.07	5E-7	(olanzapine)			Affymetrix [492900]	N
2389	chr1	236470733	236470734	rs12135191	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	28,610 European ancestry individuals	13,959 European ancestry individuals	1q42.3	ERO1LB, EDARADD	rs12135191-C	0.52	1E-7	(Combined gender)	0.008	[0.0041-0.0119] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
2389	chr1	236490677	236490678	rs12134040	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	1q42.3	ERO1LB, EDARADD	rs12134040-G	0.44	6E-6	(Women)	0.00955155	[0.0054-0.0137] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
2392	chr1	236912056	236912057	rs12048046	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	1q43	ACTN2	rs12048046-T	0.9	3E-6	(Age 20-81 years)	1.52	[1.28-1.81]	Affymetrix, Illumina [up to 17585496] (imputed)	N
2393	chr1	237048675	237048676	rs2275565	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	1q43	MTR	rs2275565-T	0.21	2E-10		0.0542	[0.037-0.072] unit decrease	Affymetrix, Illumina [2090256] (imputed)	N
2395	chr1	237266602	237266603	rs7554607	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	1q43	RYR2	rs7554607-A	0.56	2E-6		1.49	[1.20-1.70]	Affymetrix [307944]	N
2395	chr1	237349737	237349738	rs6683225	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q43	RYR2	rs6683225-G	0.433	2E-6	(Cystathionine )	0.03	[NR] umol/L increase	Illumina [899892]	N
2395	chr1	237355984	237355985	rs268786	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q43	RYR2	rs268786-C	0.014	8E-6	(Free T3 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
2397	chr1	237598415	237598416	rs7529251	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q43	NR	rs7529251-C	0.907539242683476	3E-7	(IGP16)	0.2765	[0.17-0.38] unit decrease	Illumina [~ 2500000] (imputed)	N
2397	chr1	237621238	237621239	rs1478912	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	1q43	RYR2	rs1478912-?	NR	6E-6				Affymetrix, Illumina [~ 1300000]	N
2399	chr1	237852082	237852083	rs876793	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	1q43	RYR2	rs876793-C	0.2	3E-7	(TG)	0.009	mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
2400	chr1	237911003	237911004	rs2819770	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Exercise treadmill test traits	Up to 1,238 European ancestry individuals	NA	1q43	RYR2	rs2819770-?	NR	4E-6	(S2EHR)			Affymetrix [70897]	N
2400	chr1	237913280	237913281	rs10925507	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (age at onset)	5,148 European ancestry users	NA	1q43	NR	rs10925507-A		8E-6		0.27	[0.17-0.37] unit increase	NR [5896100] (imputed)	N
2400	chr1	237990121	237990122	rs2819742	21386754	Marciante KD	2011-03-06	Pharmacogenet Genomics	Cerivastatin, genetic variants, and the risk of rhabdomyolysis.	Cerivastatin-induced rhabdomyolysis	168 European ancestry cases, 636 European ancestry controls, 17 cases, 96 controls	NA	1q43	RYR2	rs2819742-G	0.62	2E-7		2.08	[1.59-2.78]	Illumina [292461]	N
2401	chr1	238103500	238103501	rs2499604	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (AST)	236 European ancestry cases	NA	1q43	ZP4	rs2499604-A	0.44	2E-6		0.39	[NR] unit decrease	Illumina [324623]	N
2403	chr1	238308601	238308602	rs1361277	24736177	Sprooten E	2014-04-13	Neuroimage	Common genetic variants and gene expression associated with white matter microstructure in the human brain.	White matter microstructure (global fractional anisotropy)	727 Mexican American individuals from 65 families, 49 Mexican American individuals	NA	1q43	intergenic	rs1361277-?		2E-8				Illumina [929187]	N
2403	chr1	238409444	238409445	rs12084151	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	1q43	intergenic	rs12084151-G	0.9493	7E-6	(Ordinal I)	0.3896	[0.22-0.56] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2405	chr1	238669775	238669776	rs6692700	23698163	Gong J	2013-05-21	Nutrients	Genome-wide association study of serum selenium concentrations.	Serum selenium levels	582 European ancestry individuals	621 European ancestry individuals	1q43	NA	rs6692700-?	NR	2E-6		0.04	[0.024-0.056] mg/dL increase	Illumina [2474333]	N
2406	chr1	238722871	238722872	rs1410258	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	1q43	NR	rs1410258-?	NR	5E-6		2.572	[NR]	Illumina [4196861] (imputed)	N
2406	chr1	238724740	238724741	rs10754644	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	1q43	intergenic	rs10754644-G	NR	7E-6		0.09	[0.051-0.129] unit increase	Illumina [628922]	N
2406	chr1	238785308	238785309	rs72763355	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	1q43	intergenic	rs72763355-A		5E-6		297.72	[169.58-425.86] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
2407	chr1	238908352	238908353	rs2689154	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	1q43	MIPEPP2	rs2689154-G	0.17	6E-6		1.2	[1.11-1.29]	Affymetrix [666141]	N
2409	chr1	239075713	239075714	rs1915279	22310353	Man M	2012-02-07	Pharmacogenomics J	Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.	Treatment response for severe sepsis	1,446 individuals	NA	1q43	KRT18P32	rs1915279-?	NR	2E-6	(GG vs. not GG)			Illumina [856627]	N
2410	chr1	239209133	239209134	rs1033023	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q43	NR	rs1033023-A	NR	2E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
2411	chr1	239397103	239397104	rs1339738	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q43	NR	rs1339738-C	0.0857549797772829	7E-6	(IGP49)	0.2911	[0.16-0.42] unit increase	Illumina [~ 2500000] (imputed)	N
2411	chr1	239436541	239436542	rs2820037	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Hypertension	1,952 European ancestry cases, 2,938 European ancestry controls	NA	1q43	CHRM3, ZP4, RYR2	rs2820037-T	0.14	8E-7		1.54	[1.03-2.31]	Affymetrix [469557]	N
2412	chr1	239571363	239571364	rs2883428	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	1q43	XM_003960025.1	rs2883428-A	0.75	4E-7	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
2412	chr1	239571363	239571364	rs2883428	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	1q43	XM_003960025.1	rs2883428-A	0.75	4E-7				Affymetrix, Illumina [14227402] (imputed)	N
2413	chr1	239601968	239601969	rs6677208	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	1q43	CHRM3	rs6677208-?	NR	3E-6				Illumina [874956]	N
2413	chr1	239635248	239635249	rs11805526	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	1q43	intergenic	rs11805526-T	0.0213	7E-6	(Ordinal)	1.3355	[0.75-1.92] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2413	chr1	239644170	239644171	rs13373941	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q43	LOC100505872	rs13373941-C	0.0060	8E-6	(TNF-a )	0.03	[NR] pg/mL increase	Illumina [899892]	N
2415	chr1	239970096	239970097	rs12059546	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	1q43	CHRM3	rs12059546-G	.172	4E-8	(JME)	1.42	[1.26-1.61]	Affymetrix [4560000] (imputed)	N
2415	chr1	239988848	239988849	rs7536133	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	1q43	CHRM3	rs7536133-?	NR	9E-6	(Theta power, Cz)	0.077	[0.044-0.11] unit decrease	Illumina [527829]	N
2417	chr1	240222689	240222690	rs78037194	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q43	NR	rs78037194-G	NR	3E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
2418	chr1	240283735	240283736	rs11810574	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	1q43	CHRM3	rs11810574-G	0.15	4E-6	(AA-triglyceride response)	23.12	[13.34-32.9] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
2418	chr1	240361445	240361446	rs16839632	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	1q43	FMN2	rs16839632-G	0.07	8E-6		0.131	[0.074-0.188] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
2419	chr1	240445595	240445596	rs17672135	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	(see Samani 2007)	1q43	intergenic	rs17672135-T	0.87	2E-6		1.43	[1.23-1.64]	Affymetrix [469557]	N
2420	chr1	240597213	240597214	rs9287237	23437003	Paternoster L	2013-02-21	PLoS Genet	Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.	Bone mineral density	up to 5,878 European ancestry individuals	up to 1,052 European ancestry individuals	1q43	FMN2	rs9287237-T	0.15	2E-9	(Trabecular vBMD)	0.19	[0.13-0.25] unit increase	Illumina [2401124] (imputed)	N
2420	chr1	240605051	240605052	rs12091371	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		1q43	FMN2	rs12091371-?	0.07	7E-8		0.17	unit decrease	Illumina [NR] (imputed)	N
2420	chr1	240625430	240625431	rs16840114	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	1q43	FMN2	rs16840114-C	0.06	9E-6	(Temperament)	0.25	[NR] unit increase	Affymetrix [677643]	N
2421	chr1	240706106	240706107	rs10495471	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	1q43	GREM2	rs10495471-?		2E-7	(AA)			Illumina [NR]	N
2422	chr1	240846123	240846124	rs4659996	22199011	Murabito JM	2011-12-23	Circ Cardiovasc Genet	Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.	Ankle-brachial index	38,376 European ancestry individuals, 2,133 Erasmus Rucphen individuals, 1,183 Old Order Amish individuals	16,717 European ancestry individuals	1q43	GREM2	rs4659996-A	0.48	7E-6		0.004	[0.0022-0.0058] unit decrease	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
2422	chr1	240904627	240904628	rs4611001	25199915	Broer L	2014-09-08	J Gerontol A Biol Sci Med Sci	GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.	Longevity (90 years and older)	6,036 European ancestry cases, 3,757 European ancestry controls	NA	1q43	RGS7	rs4611001-A	0.97	2E-6		1.79	1.41-2.27	Affymetrix, Illumina [2500000] (imputed)	N
2423	chr1	240987753	240987754	rs7544372	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q43	RGS7	rs7544372-G	0.211	9E-6	(Vitamin B12 )	0.03	[NR] pmol/L increase	Illumina [899892]	N
2425	chr1	241188281	241188282	rs679992	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	1q43	intergenic	rs679992-T	0.5	1E-6	(AA)	1.09	[1.05-1.13]	Affymetrix, Illumina [2579389] (imputed)	N
2429	chr1	241755566	241755567	rs1053221	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q43	KMO	rs1053221-G	0.111	1E-6	(Urinary creatinine )	0.04	[NR] mmol/d increase	Illumina [899892]	N
2429	chr1	241774285	241774286	rs16841877	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	1q43	NR	rs16841877-?		6E-6		0.33	unit decrease	Illumina [1211988] (imputed)	N
2429	chr1	241774285	241774286	rs16841877	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children	1,686 Bangladeshi women	NA	1q43	NR	rs16841877-?		6E-6		0.34	unit decrease	Illumina [1211988] (imputed)	N
2430	chr1	241878546	241878547	rs12569163	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	1q43	WDR64	rs12569163-?	0.12	2E-6				Affymetrix, Illumina [1348798]	N
2430	chr1	241892234	241892235	rs9782914	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	1q43	NR	rs9782914-G	0.145	8E-6	(Illicit drug use)			Illumina [527829]	N
2430	chr1	241894085	241894086	rs10926554	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	1q43	WDR64	rs10926554-A	0.126	3E-6		13.13	[NR] unit decrease	Illumina [527829]	N
2431	chr1	242040774	242040775	rs1635501	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	1q43	EXO1	rs1635501-C	0.478	8E-10		0.164	[0.11-0.22] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
2433	chr1	242274907	242274908	rs10803016	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	1q43	PLD5	rs10803016-T	0.52	7E-6	(AA)	0.16	[0.082-0.238] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
2434	chr1	242366281	242366282	rs2653165	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	1q43	PLD5	rs2653165-?		9E-6				Affymetrix, Illumina [1348798]	N
2435	chr1	242522041	242522042	rs2919024	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q43	NR	rs2919024-G	0.012337327027027	7E-6	(IGP20)	0.6788	[0.38-0.97] unit decrease	Illumina [~ 2500000] (imputed)	N
2435	chr1	242531653	242531654	rs1439523	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	1q43	NR	rs1439523-C	0.983777045475011	4E-6	(IGP16)	0.6089	[0.35-0.87] unit increase	Illumina [~ 2500000] (imputed)	N
2436	chr1	242710042	242710043	rs1553441	26207136	Cho CH	2015-07-06	Psychiatry Investig	CDH13 and HCRTR2 May Be Associated with Hypersomnia Symptom of Bipolar Depression: A Genome-Wide Functional Enrichment Pathway Analysis.	Hypersomnia during a major depressive episode in bipolar disorder	263 European ancestry cases with hypersomnia, 112 European ancestry cases without hypersomnia	NA	1q43	PLD5	rs1553441-?		6E-6	(adaptative permutation)	2.44	[NR] (Non-permuted)	Affymetrix [703012]	N
2437	chr1	242874884	242874885	rs6676375	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	1q43	PLD5	rs6676375-T	0.87	8E-7		3.0303	[NR]	Affymetrix [up to 4467279] (imputed)	N
2438	chr1	242955562	242955563	rs12751297	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q43	PLD5, RSL24D1P4	rs12751297-A	0.262	1E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
2439	chr1	243129402	243129403	rs61841072	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	1q43	NR	rs61841072-G	NR	7E-6		1.3157895	[NR]	Illumina [up to 9792010] (imputed)	N
2441	chr1	243290641	243290642	rs55716084	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	1q43	CEP170	rs55716084-A	0.13	3E-6	(Dominant model)	1.59	[NR]	Illumina [1795103]	N
2442	chr1	243412935	243412936	rs4658552	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	1q43	SDCCAG8, AKT3	rs4658552-T	0.632	2E-6		0.021	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2442	chr1	243449880	243449881	rs3818802	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q43	NR	rs3818802-A	NR	2E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
2442	chr1	243483753	243483754	rs12145833	20421936	Scherag A	2010-04-22	PLoS Genet	Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.	Obesity (early onset extreme)	1,138 European ancestry cases, 1,120 European ancestry normal or lean controls	1,181 European ancestry cases, 1,960 European ancestry normal or lean controls, 981 European ancestry cases  and 1,430 European ancestry controls from 715 families	1q43	SDCCAG8	rs12145833-T	NR	5E-7		1.19	[1.05-1.37]	Affymetrix, Illumina [1596878] (imputed)	N
2442	chr1	243518150	243518151	rs2802728	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	1q43	SDCCAG8	rs2802728-T	0.9	6E-6		0.026	[0.014-0.038] unit increase	Affymetrix, Illumina [2378986] (imputed)	N
2443	chr1	243544826	243544827	rs1538774	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	1q43	SDCCAG8	rs1538774-G	0.74	3E-8		1.09	[1.06-1.12]	Affymetrix, Illumina [9871789]	N
2443	chr1	243555104	243555105	rs77149735	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q43	NR	rs77149735-A	NR	6E-9		1.32	[NR]	Illumina [7158791] (imputed)	N
2443	chr1	243555104	243555105	rs77149735	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	1q43	AKT3, SDCCAG8	rs77149735-A	0.0191	4E-9		1.317	[1.202-1.444]	Affymetrix, Illumina [9005918] (imputed)	N
2443	chr1	243608966	243608967	rs6703335	24166486	Sleiman P	2013-10-29	Sci Rep	GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.	Schizophrenia, schizoaffective disorder or bipolar disorder	11,985 European, African American, Asian, other and unknown ancestry schizophrenia cases, 377 European, African American, Asian, other and unknown ancestry schizoaffective disorder cases, 1,032 bipolar disorder cases, 34,676 European, African American, Asian, other and unknown ancestry controls	2652 individuals	1q43	SDCCAG8	rs6703335-?	0.562	4E-9				Affymetrix, Illumina [NR] (imputed)	N
2443	chr1	243608966	243608967	rs6703335	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	1q43	NR	rs6703335-?	NR	5E-8		1.09	[1.06-1.13]	Affymetrix, Illumina [1252901] (imputed)	N
2444	chr1	243663892	243663893	rs14403	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	1q44	AKT3, CEP170	rs14403-C	0.773	2E-8		1.1	[1.07-1.13]	Affymetrix, Illumina [9871789]	N
2444	chr1	243690490	243690491	rs13376709	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	1q44	NR	rs13376709-C	NR	6E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2445	chr1	243835185	243835186	rs320320	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	1q44	AKT3	rs320320-A	0.80	1E-7	(EA)	1.659	[0.74-2.58] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2445	chr1	243835185	243835186	rs320320	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	1q44	AKT3	rs320320-A	0.48	5E-6	(AA)	4.03	[2.31-5.75] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2446	chr1	243943083	243943084	rs4132509	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	1q44	AKT3	rs4132509-A	0.21	2E-6		0.18	[0.10-0.26] unit decrease	Illumina [~ 318327]	N
2446	chr1	244015992	244015993	rs4430311	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	1q44	AKT3	rs4430311-?	NR	6E-6	(Trauma exposed controls; EA)			Illumina [up to 871502]	N
2447	chr1	244138989	244138990	rs10927094	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	1q44	LOC339529	rs10927094-C	0.36	3E-6		0.06	[0.035-0.085] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
2447	chr1	244167800	244167801	rs12127679	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	1q44	ZNF238	rs12127679-T	0.19	1E-6	(AA-triglyceride response)	22.31	[13.24-31.38] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
2447	chr1	244173871	244173872	rs10927101	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	1q44	AKT3, ZNF238	rs10927101-A	0.38	2E-6		1.33	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
2447	chr1	244176423	244176424	rs476141	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	1q44	AKT3, ZNF238	rs476141-A	0.51	1E-7		1.37	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
2448	chr1	244240447	244240448	rs2500488	25134534	Chen K	2014-08-19	Nat Commun	Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.	Epithelial ovarian cancer	1,044 Han Chinese ancestry cases, 1,172 Han Chinese ancestry controls	1,452 Han Chinese ancestry cases, 2,803 Han Chinese ancestry controls	1q44	ZNF238, ADSS	rs2500488-C	0.33	4E-6		1.472	[1.246-1.739]	Illumina [710714]	N
2449	chr1	244390563	244390564	rs10429924	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	1q44	intergenic	rs10429924-?	NR	1E-6	(EA)	1.61	[NR]	Illumina [up to 531195]	N
2450	chr1	244511175	244511176	rs4658627	22560479	Forno E	2012-05-02	J Allergy Clin Immunol	Genome-wide association study of the age of onset of childhood asthma.	Asthma (childhood onset)	573 European ancestry children	107 European ancestry children, 591 Hispanic children, 233 children	1q44	C1orf100	rs4658627-A	0.2418	6E-6		0.13	[NR] unit decrease	Illumina [512296]	N
2450	chr1	244533213	244533214	rs3101457	22832964	David SP	2012-05-22	Transl Psychiatry	Genome-wide meta-analyses of smoking behaviors in African Americans.	Smoking behavior	Up to 32,389 African American individuals	NA	1q44	C1orf100	rs3101457-A	0.75	3E-7	(CPD)	0.041	[0.025-0.057] unit increase	Affymetrix, Illumina [~ 2900000] (imputed)	N
2450	chr1	244576716	244576717	rs3102460	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q44	ADSS	rs3102460-G	0.358	4E-6	(IGFBP-1 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
2451	chr1	244605035	244605036	rs3003214	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	1q44	ADSS	rs3003214-A	0.3176	5E-6	(Complete)	0.37	[0.21-0.53] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2453	chr1	244916618	244916619	rs7534801	26268530	Ramanan VK	2015-08-11	Brain	GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.	Longitudinal change in brain amyloid plaque burden	41 European ancestry Alzheimer's disease cases, 294 European ancestry Mild Cognitive Impairment cases, 160 European ancestry cognitively normal individuals	NA	1q44	intergenic	rs7534801-?	0.21	3E-6		0.51	[0.29-0.73] unit decrease	Illumina [6112217] (imputed)	N
2453	chr1	244916886	244916887	rs10737896	26268530	Ramanan VK	2015-08-11	Brain	GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.	Longitudinal change in brain amyloid plaque burden	41 European ancestry Alzheimer's disease cases, 294 European ancestry Mild Cognitive Impairment cases, 160 European ancestry cognitively normal individuals	NA	1q44	intergenic	rs10737896-?	0.21	3E-6		0.51	[0.29-0.73] unit decrease	Illumina [6112217] (imputed)	N
2459	chr1	245733607	245733608	rs10924245	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	1q44	KIF26B	rs10924245-?	NR	7E-6	(Mood symptoms)	0.1661	[NR] unit decrease	Affymetrix [696491]	N
2460	chr1	245863221	245863222	rs10924309	26348319	Myung W	2015-09-08	Transl Psychiatry	A genome-wide association study of antidepressant response in Koreans.	Response to serotonin reuptake inhibitors in non-psychotic unipolar depression	263 Korean ancestry responder cases, 218 Korean ancestry non-responder cases	118 Korean ancestry responder cases, 112 Korean ancestry non-responder cases	1q44	KIF26B, SMYD3	rs10924309-?	NR	6E-6				Affymetrix [505435] (imputed)	N
2463	chr1	246223119	246223120	rs6693295	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	1q44	intergenic	rs6693295-T	0.19	6E-6		1.14	[1.08-1.21]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2463	chr1	246223119	246223120	rs6693295	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	1q44	intergenic	rs6693295-T	0.19	9E-6		1.15	[1.08-1.23]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2464	chr1	246372879	246372880	rs10802346	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	1q44	SMYD3	rs10802346-C	0.15	8E-6		0.076	[0.043-0.109] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
2466	chr1	246661235	246661236	rs11800820	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q44	SMYD3	rs11800820-A	0.164	4E-6	(Total energy expenditure RQ)	0.03	[NR] unit increase	Illumina [899892]	N
2466	chr1	246661235	246661236	rs11800820	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	1q44	SMYD3	rs11800820-A	0.164	4E-6	(Fat oxidation )	0.03	[NR] %NPEE increase	Illumina [899892]	N
2471	chr1	247214877	247214878	rs4925540	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	1q44	ZNF670	rs4925540-?	NR	2E-6				Affymetrix, Illumina [~ 1300000]	N
2471	chr1	247261124	247261125	rs6670062	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	1q44	NR	rs6670062-T	0.0218	2E-6	(Trans/trans-18:2, EA)	0.0046	[0.0026-0.0066] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2472	chr1	247348188	247348189	rs3738443	21314694	Kendler KS	2011-02-11	Alcohol Clin Exp Res	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Alcohol dependence	2,357 European ancestry individuals, 812 African American individuals	NA	1q44	ZNF124	rs3738443-A	0.033	4E-6	(AA)			Affymetrix [NR]	N
2473	chr1	247583676	247583677	rs10925015	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		1q44	NLRP3	rs10925015-?	NR	8E-6				Illumina [~ 2400000] (imputed)	N
2474	chr1	247600300	247600301	rs1539019	20031576	Dehghan A	2009-04-01	Circ Cardiovasc Genet	Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.	Fibrinogen	22,096 European ancestry individuals	17,686 European ancestry female individuals	1q44	NLRP3	rs1539019-A	0.37	1E-8		0.04	[0.03-0.05] g/L decrease	Affymetrix, Illumina [~ 2661766] (imputed)	N
2474	chr1	247601594	247601595	rs12239046	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	1q44	NLRP3	rs12239046-C	NR	1E-15		0.047	[0.04-0.06] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2474	chr1	247605598	247605599	rs10157379	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	1q44	NLRP3	rs10157379-T	0.62	1E-19	(EA)	0.01	[0.008-0.012] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
2474	chr1	247623871	247623872	rs4604732	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	8,631 European ancestry individuals	NA	1q44	OR2B11	rs4604732-T	0.82	2E-6		0.08	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2474	chr1	247653411	247653412	rs10802516	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	1q44	OR2W5	rs10802516-?	NR	6E-6	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
2474	chr1	247675558	247675559	rs7550918	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	1q44	LOC148824	rs7550918-T	NR	3E-11		3.133	[2.21-4.06] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2474	chr1	247689531	247689532	rs1881797	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	1q44	OR2C3	rs1881797-C	0.18	7E-6		1.52	[1.20-1.80]	Affymetrix [307944]	N
2475	chr1	247781568	247781569	rs1144815	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	1q44	intergenic	rs1144815-?		9E-6				NR [~ 3000000] (imputed)	N
2477	chr1	248016377	248016378	rs72772787	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	1q44	TRIM58	rs72772787-?	NR	4E-6	(Response)	2.34	[NR]	Illumina [~ 7000000] (imputed)	N
2477	chr1	248039450	248039451	rs3811444	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	1q44	TRIM58	rs3811444-T	0.32	5E-11	(OA)	0.127	[NR] unit decrease	Affymetrix [~ 2500000] (imputed)	N
2477	chr1	248039450	248039451	rs3811444	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	1q44	TRIM58	rs3811444-T	0.35	5E-10	(EA, RBCC)	0.018	[0.012-0.024] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
2477	chr1	248039450	248039451	rs3811444	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	1q44	TRIM58	rs3811444-C	NR	6E-9		3.346	[2.22-4.47] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2477	chr1	248046271	248046272	rs11204538	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	1q44	TRIM58	rs11204538-C	0.16	2E-8		0.091	[0.060-0.122] unit decrease	Illumina [561583]	N
2477	chr1	248058549	248058550	rs1337875	26029870	Ye Z	2015-06-01	Nat Genet	Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma.	Sporadic pituitary adenoma	771 Han Chinese cases, 2,788 Han Chinese controls	2,542 Han Chinese cases, 3,620 Han Chinese controls	1q44	NR	rs1337875-G	NR	6E-6		1.37	[NR]	Illumina [720770]	N
2480	chr1	248496862	248496863	rs4481887	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	1q44	OR2M7	rs4481887-G	0.74	7E-24	(asparagus anosmia)	1.67	[NR]	Illumina [535076]	N
2486	chr1	249168435	249168436	rs12032643	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		1q44	intergenic	rs12032643-?	0.896	1E-9			[NR]	Affymetrix, Illumina [152234]	N
585	chr2	38937	38938	rs11542478	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	2p25.3	FAM110C	rs11542478-A	0.10	9E-6	(4-choice RT)	0.19	[0.11-0.27] unit increase	Illumina [~ 610000]	N
585	chr2	112495	112496	rs300774	21423239	Willour VL	2011-03-25	Mol Psychiatry	A genome-wide association study of attempted suicide.	Suicide attempts in bipolar disorder	1,201 European and unknown ancestry attempters, 1,497 European and unknown ancestry non-attempters	1,295 attempters, 1,822 non-attempters	2p25.3	intergenic	rs300774-A	0.18	5E-8		1.22	[NR]	Affymetrix, Illumina [2408051] (imputed)	N
586	chr2	184389	184390	rs13033859	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	2p25.3	SH3YL1	rs13033859-?	NR	4E-6			[NR]	Illumina [283437]	N
587	chr2	315214	315215	rs4643574	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	2p25.3	AC079779.6	rs4643574-?	NR	5E-6	(Digit Span Forward)			Illumina [up to 563855]	N
588	chr2	443280	443281	rs4854307	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	2p25.3	intergenic	rs4854307-C	0.34	2E-6		0.0263	[0.016-0.036] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
589	chr2	594365	594366	rs11885103	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	2p25.3	TMEM18	rs11885103-A	0.44	2E-6	(Right HG area)	9.74	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
589	chr2	614167	614168	rs2947411	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2p25.3	TMEM18	rs2947411-A	0.17	2E-19		0.06	[0.046-0.074] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
589	chr2	614167	614168	rs2947411	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	2p25.3	TMEM18	rs2947411-A	0.17	2E-8		2.8	[1.82-3.78] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
589	chr2	622530	622531	rs939583	24064335	Pei YF	2013-10-08	Hum Mol Genet	Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.	Body mass index	8,463 European ancestry individuals, 7,478 African American individuals, 3,348 Hispanic individuals, 1,624 Han Chinese ancestry individuals	4,979 European ancestry individuals, 2,740 Han Chinese ancestry individuals	2p25.3	TMEM18	rs939583-C	NR	1E-7		0.07	[0.050-0.090] kg/m2 decrease	Affymetrix, Illumina [4325550] (imputed)	N
589	chr2	622826	622827	rs2867125	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	2p25.3	TMEM18	rs2867125-C	0.83	3E-49		0.31	[0.25-0.37] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
589	chr2	624033	624034	rs6711012	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	2p25.3	TMEM18	rs6711012-C	0.82	6E-35	(Overweight)	1.11	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
589	chr2	624033	624034	rs6711012	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	2p25.3	TMEM18	rs6711012-C	0.82	3E-40	(Obesity class I)	1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
589	chr2	624677	624678	rs2903492	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	2p25.3	TMEM18	rs2903492-A	0.83	6E-15		1.26	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
589	chr2	629243	629244	rs12463617	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	2p25.3	TMEM18	rs12463617-C	0.91	2E-12		0.0634	[0.046-0.081] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
589	chr2	629243	629244	rs12463617	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	2p25.3	TMEM18	rs12463617-A	0.15	3E-17		0.1	[0.076-0.124] unit decrease	Affymetrix, Illumina [557887] (imputed)	N
589	chr2	629243	629244	rs12463617	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	2p25.3	TMEM18	rs12463617-C	0.85	2E-13		1.42	[1.29-1.56]	Affymetrix [~ 2000000] (imputed)	N
589	chr2	632027	632028	rs11127485	20421936	Scherag A	2010-04-22	PLoS Genet	Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.	Obesity (early onset extreme)	1,138 European ancestry cases, 1,120 European ancestry normal or lean controls	1,181 European ancestry cases, 1,960 European ancestry normal or lean controls, 981 European ancestry cases  and 1,430 European ancestry controls from 715 families	2p25.3	TMEM18	rs11127485-T	NR	2E-7		1.23	[1.08-1.41]	Affymetrix, Illumina [1596878] (imputed)	N
589	chr2	632347	632348	rs13021737	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p25.3	TMEM18	rs13021737-G	0.83	5E-54		0.06	[0.053-0.068] kg/m2 increase	Affymetrix, Illumina [2550021]	N
589	chr2	632347	632348	rs13021737	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p25.3	TMEM18	rs13021737-G	0.828	7E-40	(EA, women)	0.069	[0.058-0.079] kg/m2 increase	Affymetrix, Illumina [2550021]	N
589	chr2	632347	632348	rs13021737	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p25.3	TMEM18	rs13021737-G	0.828	4E-22	(EA, men)	0.052	[0.041-0.063] kg/m2 increase	Affymetrix, Illumina [2550021]	N
589	chr2	632347	632348	rs13021737	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p25.3	TMEM18	rs13021737-G	0.828	1E-50	(EA)	0.06	[0.052-0.068] kg/m2 increase	Affymetrix, Illumina [2550021]	N
589	chr2	634904	634905	rs6548238	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	2p25.3	TMEM18	rs6548238-C	0.84	1E-18		0.26	[0.19-0.34] kg/m2 increase	Affymetrix, Illumina [2399588] (imputed)	N
589	chr2	644952	644953	rs7561317	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	2p25.3	TMEM18	rs7561317-G	0.84	2E-18		6.47	[5.02-7.92] percentage SD increase	Illumina [305846]	N
589	chr2	644952	644953	rs7561317	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	2p25.3	TMEM18	rs7561317-G	0.84	4E-17		6.12	[4.69-7.55] % SD increase	Illumina [305846]	N
589	chr2	646363	646364	rs10189761	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	2p25.3	TMEM18	rs10189761-A	0.82	6E-24	(Obesity class II)	1.24	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
589	chr2	646673	646674	rs10190052	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	2p25.3	TMEM18	rs10190052-C		2E-7		1.07	[1.04-1.10]	Affymetrix, Illumina [2500000] (imputed)	N
590	chr2	663482	663483	rs12999373	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	2p25.3	TMEM18	rs12999373-?	NR	3E-6	(Baseline)	0.14	[0.081-0.199] ng/dL decrease	Affymetrix [2543887] (imputed)	N
590	chr2	663482	663483	rs12999373	22229870	Karns R	2012-01-09	Ann Hum Genet	Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.	Uric acid levels	1,300 European ancestry individuals	NA	2p25.3	TMEM18	rs12999373-A	0.27	2E-6		17.65	[NR] umol/L decrease	Affymetrix [2241249] (imputed)	N
590	chr2	679178	679179	rs1320333	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p25.3	TMEM18	rs1320333-A	0.057	8E-6	(Urinary creatinine )	0.03	[NR] mmol/d increase	Illumina [899892]	N
590	chr2	773277	773278	rs4380275	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (doxorubicin)	83 Japanese ancestry cases, 66 Japanese ancestry controls	NA	2p25.3	LOC339822	rs4380275-G	0.152	5E-6	(Recessive model)	3.604	[2.041-6.365]	Illumina [733202]	N
595	chr2	1407814	1407815	rs11675434	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	2p25.3	TPO	rs11675434-T	0.39	2E-16		1.21	[1.15-1.28]	Affymetrix, Illumina [up to 3437411] (imputed)	N
595	chr2	1407814	1407815	rs11675434	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	2p25.3	TPO	rs11675434-T	0.39	7E-13		0.0202	[0.011-0.029] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
595	chr2	1417243	1417244	rs2071403	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Thyroid peroxidase antibody positivity	377 Korean ancestry cases, 3,019 Korean ancestry anti-TPO controls	108 Korean ancestry cases, 734 Korean ancestry controls	2p25.3	TPO	rs2071403-?	0.62	1E-10		1.65	[1.50-1.80]	Affymetrix [1418709] (imputed)	N
595	chr2	1437987	1437988	rs1514687	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	2p25.3	CHST9	rs1514687-?		2E-7	(AA)	16.8	[NR]	Illumina [936149]	N
596	chr2	1557926	1557927	rs10206020	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p25.3	NR	rs10206020-C	0.188382478860703	3E-6	(IGP43)	0.1805	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
596	chr2	1557926	1557927	rs10206020	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p25.3	NR	rs10206020-C	0.188020994657168	4E-6	(IGP3)	0.1798	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
598	chr2	1777149	1777150	rs6735179	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	2p25.3	intergenic	rs6735179-?	0.346	1E-7	(perphenazine-triglycerides)			Affymetrix [492900]	N
599	chr2	1925992	1925993	rs2241685	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	2p25.3	MYT1L	rs2241685-?	NR	8E-6				Affymetrix [504219]	N
601	chr2	2225400	2225401	rs6548123	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	2p25.3	MYT1L	rs6548123-?	NR	6E-8	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
603	chr2	2406487	2406488	rs11679592	25082827	Julia A	2014-07-31	Hum Mol Genet	A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.	Ulcerative colitis	up to 7,483 European ancestry cases, up to 21,211 European ancestry controls	1,073 European ancestry cases, 1,279 European ancestry controls	2p25.3	MYTL	rs11679592-C	0.48	9E-6	(Southern European)	1.16	[1.03-1.31]	Illumina [546271]	N
603	chr2	2483625	2483626	rs12611820	25147783	Keene KL	2014-08-06	Front Public Health	Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.	Vitamin B levels in ischemic stroke	1,725 European ancestry cases, 258 African ancestry cases, 117 cases	NA	2p25.3	MYT1L	rs12611820-C	0.245	1E-6	(Vitamin B9 - Folate)	0.169	[NR] unit decrease	Illumina [737081]	N
604	chr2	2519512	2519513	rs10199521	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	2p25.3	MYT1L, LOC7029897	rs10199521-T	0.22	3E-6		1.46	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
604	chr2	2545733	2545734	rs181867028	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	2p25.3	NR	rs181867028-T	0.004	8E-6		0.911	[0.51-1.31] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
604	chr2	2590380	2590381	rs2598592	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	2p25.3	intergenic	rs2598592-?	0.39	7E-6				Illumina [565404]	N
605	chr2	2732876	2732877	rs896232	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2p25.3	MYT1L, TSSC1	rs896232-?		1E-6	(SI+M)	0.2	[0.082-0.318] unit decrease	Illumina [693128]	N
606	chr2	2843307	2843308	rs13403149	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	2p25.3	NR	rs13403149-?	NR	7E-6	(males)			Illumina [1211988] (imputed)	N
607	chr2	2926012	2926013	rs17491951	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity (interaction)	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	2p25.3	AK095310	rs17491951-?	0.38	7E-6				Illumina [565404]	N
610	chr2	3392074	3392075	rs10865541	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p25.3	TTC15/TRAPPC12	rs10865541-A	0.488	6E-6	(Testosterone )	0.03	[NR] ng/mL increase	Illumina [899892]	N
611	chr2	3472137	3472138	rs9309711	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	2p25.3	TTC15	rs9309711-C	0.7072	3E-6	(Ordinal I)	0.2055	[0.12-0.29] unit increase	Affymetrix, Illumina [NR] (imputed)	N
611	chr2	3476421	3476422	rs11675119	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	2p25.3	TTC15	rs11675119-A	0.2699	2E-7	(Ordinal II)	0.2541	[0.16-0.35] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
613	chr2	3677226	3677227	rs147056028	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	2p25.3	NR	rs147056028-?		3E-7	(PCB209)	1.53	[0.94-2.12] unit decrease	Illumina [8736858] (imputed)	N
613	chr2	3698370	3698371	rs13031619	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3701335	3701336	rs4849975	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3702732	3702733	rs11902059	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3703040	3703041	rs17445240	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3704829	3704830	rs13418767	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3706621	3706622	rs13384889	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3707422	3707423	rs6754459	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3709107	3709108	rs1965732	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3713657	3713658	rs17017879	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3714128	3714129	rs10173297	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3714260	3714261	rs7558370	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3715014	3715015	rs13395090	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs13031619-?,rs4849975-?,rs11902059-?,rs17445240-?,rs13418767-?,rs13384889-?,rs6754459-?,rs1965732-?,rs17017879-?,rs10173297-?,rs7558370-?,rs13395090-?	0.093	4E-6	(GGAGTCTGCACT)	0.329	[NR] unit increase	Illumina [430487]	N
613	chr2	3723025	3723026	rs11123610	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	2p25.3	ALLC	rs11123610-?		4E-7		0.367	[NR] unit increase	Illumina [430487]	N
613	chr2	3748970	3748971	rs6730148	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p25.3	ALLC, DCDC2C	rs6730148-G	0.074	2E-6	(Cortisol )	0.02	[NR] ng/mL increase	Illumina [899892]	N
614	chr2	3841419	3841420	rs11677370	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	2p25.3	intergenic	rs11677370-T	0.40	3E-6	(Indian)	1.35	[1.19-1.53]	Illumina [~ 2000000] (imputed)	N
617	chr2	4318975	4318976	rs11686135	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	2p25.3	intergenic	rs11686135-?	NR	4E-6	(FEV1/FVC decline in asthmatics)	0.3724	[0.21-0.53] unit decrease	Illumina [~ 2500000] (imputed)	N
621	chr2	4808026	4808027	rs825937	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	2p25.2	LINC01249	rs825937-C	0.83	2E-7	(EA, PP, Age 40-49)	0.83	[0.52-1.14] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
622	chr2	4895317	4895318	rs4971486	25963547	Wilson CL	2015-05-11	Cancer	Genetic and clinical factors associated with obesity among adult survivors of childhood cancer: A report from the St. Jude Lifetime Cohort.	Obesity in adult survivors of childhood cancer exposed to cranial radiation	365 obese individuals, 411 non-obese individuals	NA	2p25.2	SOX11	rs4971486-G	0.23	8E-8		1.99	(1.54-2.57)	Affymetrix [NR] (imputed)	N
625	chr2	5253597	5253598	rs1075309	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	2p25.2	SOX11	rs1075309-T	0.91	7E-7		2.8571	[NR]	Affymetrix [up to 4467279] (imputed)	N
626	chr2	5437542	5437543	rs13004938	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p25.2	SOX11	rs13004938-G	0.094	9E-6	(Bike energy expenditure )	0.04	[NR] kcal/min increase	Illumina [899892]	N
626	chr2	5462986	5462987	rs1524480	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p25.2	NR	rs1524480-G	NR	2E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
628	chr2	5664007	5664008	rs11894081	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	2p25.2	SOX11	rs11894081-T	0.55	4E-9		1.22	[1.2-1.22]	Illumina [4929034] (imputed)	N
630	chr2	5907879	5907880	rs16864170	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	2p25.2	SOX11	rs16864170-C	0.05	2E-7	(CKD)	1.3	[1.18-1.43]	Affymetrix, Illumina [~ 2500000] (imputed)	N
631	chr2	6052750	6052751	rs7586540	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	2p25.2	ERBB4	rs7586540-A	0.94	5E-6	(AA)	0.43	[0.25-0.61] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
631	chr2	6134939	6134940	rs1405262	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	2p25.2	NR	rs1405262-?	NR	6E-6	(progression)			Illumina [NR]	N
631	chr2	6139705	6139706	rs12993904	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	2p25.2	LOC150622, LOC400940	rs12993904-G	0.4783	9E-7		1.93	[1.67-2.19]	Illumina [8809853] (imputed)	N
631	chr2	6155556	6155557	rs10929925	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p25.2	LOC400940	rs10929925-C	0.557	1E-6	(EA)	0.015	[0.0091-0.0213] kg/m2 increase	Affymetrix, Illumina [2550021]	N
631	chr2	6155556	6155557	rs10929925	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p25.2	LOC400940	rs10929925-C	0.553	9E-8		0.016	[0.01-0.021] kg/m2 increase	Affymetrix, Illumina [2550021]	N
634	chr2	6461420	6461421	rs7591996	23727862	Savage SA	2013-06-02	Nat Genet	Genome-wide association study identifies two susceptibility loci for osteosarcoma.	Osteosarcoma	694 European ancestry cases, 2,703 European ancestry controls	247 European ancestry cases, 550 European ancestry controls	2p25.2	intergenic	rs7591996-C	NR	1E-8		1.39	[1.23-1.54]	Illumina [698968]	N
636	chr2	6694518	6694519	rs10495537	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2p25.2	LOC129607	rs10495537-T	0.32	5E-7	(men)			Affymetrix, Illumina [2500000] (imputed)	N
636	chr2	6697087	6697088	rs962528	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2p25.2	LOC129607	rs962528-T	0.32	8E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
639	chr2	7147972	7147973	rs6741819	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	2p25.1	RNF144A	rs6741819-?	0.305	2E-7	(perphenazine-triglycerides)			Affymetrix [492900]	N
646	chr2	8036259	8036260	rs2193071	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p25.1	LINC00299	rs2193071-A	0.0070	4E-6	(Vigorous activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
646	chr2	8053596	8053597	rs4669226	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		2p25.1	LOC339788	rs4669226-?		5E-6	(Cluxel size)			Illumina [208975]	N
647	chr2	8177463	8177464	rs17169	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	2p25.1	NR	rs17169-T	NR	1E-7	(phenotype 1)	2.97	[NR]	Illumina [> 8000000] (imputed)	N
647	chr2	8177463	8177464	rs17169	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	2p25.1	NR	rs17169-T	NR	1E-7	(phenotype 3)	2.97	[NR]	Illumina [> 8000000] (imputed)	N
649	chr2	8434184	8434185	rs3102947	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	2p25.1	ID2	rs3102947-G	NR	2E-7		0.06	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
649	chr2	8442247	8442248	rs10174949	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	2p25.1	ID2	rs10174949-A	0.2728	1E-7		0.0703	[0.044-0.096] unit decrease	Illumina [2400000] (imputed)	N
650	chr2	8530255	8530256	rs13008689	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	2p25.1	AC011747.3	rs13008689-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
651	chr2	8738902	8738903	rs4669297	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p25.1	NR	rs4669297-T	NR	5E-6		1.17	[NR]	Illumina [7158791] (imputed)	N
653	chr2	8949069	8949070	rs7587928	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	2p25.1	KIDINS220	rs7587928-?	NR	2E-7				Illumina [874956]	N
655	chr2	9250037	9250038	rs1109670	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	2p25.1	DDEF2	rs1109670-?	0.26	9E-6		1.38	[NR]	Illumina [551642]	N
655	chr2	9259597	9259598	rs9636252	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p25.1	NR	rs9636252-C	0.641289432131731	3E-6	(IGP8)	0.1514	[0.087-0.215] unit increase	Illumina [~ 2500000] (imputed)	N
655	chr2	9291233	9291234	rs73912949	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2p25.1	intergenic	rs73912949-G	0.007	3E-6		6.97	[2.7-17.99]	Illumina [1556551]	N
658	chr2	9645631	9645632	rs55794209	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	2p25.1	NR	rs55794209-A	0.066	3E-6		0.227	[0.13-0.32] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
658	chr2	9676412	9676413	rs17362650	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	2p25.1	NR	rs17362650-C	0.26	8E-6		1.33	[1.21-1.45]	Illumina [4058415] (imputed)	N
659	chr2	9721895	9721896	rs6432018	22174390	Rankinen T	2011-12-15	J Appl Physiol (1985)	Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs.	Heart rate variability traits	472 European ancestry individuals from 99 families	NA	2p25.1	YWHAQ	rs6432018-?	NR	8E-7				Illumina [320000]	N
659	chr2	9741534	9741535	rs55883249	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p25.1	NR	rs55883249-?	NR	2E-7	(Japanese)	0.6204	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
659	chr2	9823869	9823870	rs4669418	25353672	Fernandez-Navarro P	2014-10-29	Int J Cancer	Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.	Mammographic density	239 European ancestry low mammographic density females, 239 European ancestry high mammographic density females	NA	2p25.1	NR	rs4669418-A	0.597	9E-6		1.86	[1.41-2.47]	Illumina [575374]	N
660	chr2	9924386	9924387	rs2357266	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	2p25.1	intergenic	rs2357266-G	0.35	4E-6		0.02	[NR] unit decrease	Illumina [2380486] (imputed)	N
662	chr2	10117867	10117868	rs11902236	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	2p25.1	C2orf48, CYS1, GRHL1, KLF11, MIR4261, RRM2, TAF1B	rs11902236-A	0.27	3E-8		1.07	[1.03-1.10]	Illumina [~ 2600000] (imputed)	N
662	chr2	10200315	10200316	rs12692398	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	2p25.1	CYS1	rs12692398-A	0.2	3E-8	(EA, COPDGene + GenKOLS)	1.44	[1.26-1.64]	Illumina [NR] (imputed)	N
664	chr2	10380208	10380209	rs759341	25493955	Gorski M	2014-12-10	Kidney Int	Genome-wide association study of kidney function decline in individuals of European descent.	Kidney function decline traits	up to 45,530 European ancestry individuals	up to 18,028 European ancestry individuals	2p25.1	C2orf48, HPCAL1, RRM2	rs759341-A	0.31	3E-6	(CKDi25)	0.16	[NR] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
666	chr2	10710729	10710730	rs9287719	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	2p25.1	NOL10	rs9287719-C	0.46	3E-8		1.06	[1.04-1.08]	Affymetrix, Illumina [up to 16852405] (imputed)	N
666	chr2	10710729	10710730	rs9287719	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	2p25.1	NOL10	rs9287719-C	0.46	2E-8	(EA)	1.07	[1.04-1.09]	Affymetrix, Illumina [up to 16852405] (imputed)	N
668	chr2	10903411	10903412	rs1198872	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	2p25.1	ATP6V1C2	rs1198872-T	NR	2E-6	(Dichotomous variable)	2.04	[1.51-2.74]	Affymetrix, Illumina [~ 2500000] (imputed)	N
669	chr2	11040145	11040146	rs13396519	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	2p25.1	NR	rs13396519-?	NR	4E-6		8.753	[5.2-12.3] unit decrease	Illumina [498648]	N
670	chr2	11220561	11220562	rs6739054	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	2p25.1	AC062028.1	rs6739054-?	NR	2E-6	(PC1)			Illumina [up to 563855]	N
670	chr2	11255339	11255340	rs12692432	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	2p25.1	C2orf50, AX746649, FLJ33534	rs12692432-C		6E-6		0.2855	unit increase	Illumina [5767231] (imputed)	N
670	chr2	11257504	11257505	rs16857178	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p25.1	FLJ33534	rs16857178-A	0.043	9E-6	(Urinary creatinine )	0.04	[NR] mmol/d increase	Illumina [899892]	N
672	chr2	11510947	11510948	rs6716724	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	2p25.1	E2F6	rs6716724-?	0.18	6E-7	(Recessive)	1.39	[1.22-1.57]	Affymetrix [319222]	N
674	chr2	11727506	11727507	rs13394619	23104006	Nyholt DR	2012-10-28	Nat Genet	Genome-wide association meta-analysis identifies new endometriosis risk loci.	Endometriosis	3,181 European ancestry cases, 8,075 European ancestry controls, 1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls	1,044 Japanese ancestry, 4,017 Japanese ancestry controls	2p25.1	GREB1	rs13394619-G	0.521	6E-9		1.15	[1.09-1.20]	Illumina [407632]	N
674	chr2	11738090	11738091	rs1435547	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2p25.1	GREB1, E2F6, NTSR2	rs1435547-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
674	chr2	11758430	11758431	rs73175262	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p25.1	GREB1	rs73175262-A	0.053	9E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
674	chr2	11758430	11758431	rs73175262	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p25.1	GREB1	rs73175262-A	0.053	7E-8	(MCP1 )	0.05	[NR] pg/mL increase	Illumina [899892]	N
676	chr2	12037178	12037179	rs17605562	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	2p25.1	AC096559.2	rs17605562-T	NR	9E-6				Illumina [~ 1000000] (imputed)	N
676	chr2	12037491	12037492	rs4027132	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	2p25.1	NR	rs4027132-?	NR	3E-6	(recessive)			Affymetrix [NR]	N
678	chr2	12212444	12212445	rs16858228	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p24.3	ST13P1	rs16858228-G	0.146	1E-6	(Urinary creatinine )	0.04	[NR] mmol/d increase	Illumina [899892]	N
678	chr2	12252349	12252350	rs17551536	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	2p24.3	LOC729992, LOC100288243	rs17551536-G	0.13	5E-6		1.4706	[0.58-0.8]	Illumina [1795103]	N
680	chr2	12553837	12553838	rs11677203	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	2p24.3	LOC100506457	rs11677203-?	NR	6E-6	(Delta power, Cz)	0.055	[0.031-0.079] unit decrease	Illumina [527829]	N
680	chr2	12568995	12568996	rs10929808	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	2p24.3	NR	rs10929808-?	NR	4E-6		1.3678	[NR]	Affymetrix [722112]	N
681	chr2	12640740	12640741	rs1534422	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	2p24.3	intergenic	rs1534422-G	0.46	2E-6		1.08	[1.02-1.15]	Affymetrix, Illumina [841622] (imputed)	N
683	chr2	12890859	12890860	rs2113818	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	2p24.3	TRIB2	rs2113818-T	0.49	4E-8	(EA)	0.015	[0.0091-0.0209] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
683	chr2	12890859	12890860	rs2113818	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	2p24.3	TRIB2	rs2113818-T	0.49	1E-9		0.015	[0.011-0.019] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
683	chr2	12964496	12964497	rs10198628	22589742	Fox CS	2012-05-10	PLoS Genet	Genome-wide association of pericardial fat identifies a unique locus for ectopic fat.	Pericardial fat	5,487 European ancestry individuals	1,442 African American individuals, 1,399 Hispanic individuals, 761 Chinese ancestry individuals	2p24.3	TRIB2	rs10198628-?	NR	5E-14				Affymetrix [~ 2500000] (imputed)	N
683	chr2	12968899	12968900	rs10180496	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	2p24.3	TRIB2	rs10180496-?	NR	1E-7	(DMFS5, DMFS5mand)			Illumina [518997]	N
689	chr2	13682803	13682804	rs13405366	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2p24.3	TRIB2, FAM84A	rs13405366-A	0.024	1E-6		4.3	[2.28-8.12]	Illumina [1556551]	N
689	chr2	13726612	13726613	rs1877101	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2p24.3	TRIB2, FAM84A	rs1877101-G	0.004	7E-6		9.55	[2.88-31.66]	Illumina [1556551]	N
692	chr2	14029747	14029748	rs1598106	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p24.3	NR	rs1598106-C	0.408824843693694	2E-7	(IGP20)	0.1642	[0.1-0.23] unit decrease	Illumina [~ 2500000] (imputed)	N
693	chr2	14218093	14218094	rs360488	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	2p24.3	FAM84A	rs360488-A	NR	4E-7	(%LAA-950, All)	0.09	[0.016-0.164] unit increase	Illumina [7600000] (imputed)	N
694	chr2	14398051	14398052	rs16861531	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	2p24.3	intergenic	rs16861531-G	0.03	7E-7	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
697	chr2	14801500	14801501	rs7602441	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2p24.3	FAM84A	rs7602441-G	0.88	7E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
703	chr2	15482751	15482752	rs13403179	25935106	Kim KW	2015-04-30	J Allergy Clin Immunol	Genome-wide association study of recalcitrant atopic dermatitis in Korean children.	Recalcitrant atopic dermatitis	246 Korean ancestry child cases, 551 Korean ancestry adult controls	NA	2p24.3	NBAS	rs13403179-C	0.054	8E-8		2.947	[1.989-4.386]	Affymetrix [2501352] (imputed)	N
703	chr2	15509145	15509146	rs7572081	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	2p24.3	NBAS	rs7572081-?		5E-7				NR [~ 3000000] (imputed)	N
703	chr2	15512722	15512723	rs17668738	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	2p24.3	NBAS	rs17668738-T	0.92	4E-6		0.07	[0.031-0.109] unit decrease	Illumina [1632371] (imputed)	N
704	chr2	15664755	15664756	rs7581919	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	2p24.3	NAG	rs7581919-C	0.041	8E-6		1.85	[1.41-2.43]	Illumina [948658]	N
705	chr2	15729819	15729820	rs3755132	22544364	Turnbull C	2012-04-29	Nat Genet	A genome-wide association study identifies susceptibility loci for Wilms tumor.	Wilms tumor	757 European ancestry cases, 1,879 European ancestry controls	1,488 European ancestry cases, 3,851 European ancestry controls	2p24.3	MYCN, DDX1	rs3755132-G	0.14	1E-14		1.45	[1.29-1.64]	Illumina [599255]	N
705	chr2	15782470	15782471	rs807624	22544364	Turnbull C	2012-04-29	Nat Genet	A genome-wide association study identifies susceptibility loci for Wilms tumor.	Wilms tumor	757 European ancestry cases, 1,879 European ancestry controls	1,488 European ancestry cases, 3,851 European ancestry controls	2p24.3	MYCN, DDX1	rs807624-A	0.35	1E-14		1.33	[1.22-1.45]	Illumina [599255]	N
706	chr2	15863001	15863002	rs6431731	22479191	Pattaro C	2012-03-29	PLoS Genet	Genome-wide association and functional follow-up reveals new loci for kidney function.	Chronic kidney disease	74,354  European ancestry individuals	56,246 European ancestry individuals	2p24.3	DDX1	rs6431731-?	NR	4E-8		0.0127	[0.0082-0.0172] ml/min/1.73m^2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
706	chr2	15920322	15920323	rs2544523	24993907	Smolonska J	2014-07-03	Eur Respir J	Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.	Asthma or chronic obstructive pulmonary disease	920 European ancestry Asthma cases, 1,030 European ancestry Chronic obstructive pulmonary disease cases, 4,585 European ancestry controls	461 European ancestry Asthma cases, 118 European ancestry Chronic obstructive pulmonary disease cases, 656 European ancestry controls, 720 European, African American and Hispanic Asthma cases, 1,019 European, African American and Hispanic Chronic obstructive pulmonary disease cases, 19,173 European, African American and Hispanic controls, 1,106 Asthma cases, 1,806 Chronic obstructive pulmonary disease cases, 18,580 controls	2p24.3	MYCN, DDX1	rs2544523-T		1E-6		1.07	[NR]	Illumina [1811026]	N
706	chr2	15926167	15926168	rs2544527	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	2p24.3	MYCN, DDX1	rs2544527-T	NR	2E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
706	chr2	15926167	15926168	rs2544527	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	2p24.3	DDX1	rs2544527-T	NR	9E-6	(FEV1/FVC)	0.026	[0.014-0.038] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
706	chr2	15961598	15961599	rs7586898	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	2p24.3	AC113608.1	rs7586898-C	NR	2E-6				Illumina [~ 1000000] (imputed)	N
708	chr2	16191544	16191545	rs55678912	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	2p24.3	NR	rs55678912-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
710	chr2	16462144	16462145	rs57244888	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	2p24.3	MYCN, FAM49A	rs57244888-T	0.898	5E-12		1.32	[1.22-1.43]	Illumina [24988228] (imputed)	N
711	chr2	16639565	16639566	rs1346751	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	2p24.3	FAM49A	rs1346751-?		8E-6	(AA)	0.1	[NR]	Illumina [936149]	N
712	chr2	16715407	16715408	rs4441471	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	2p24.2	NR	rs4441471-?	NR	8E-7	(Meta-All, NSCL/P)			NR [497084]	N
717	chr2	17427584	17427585	rs11889338	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	2p24.2	intergenic	rs11889338-A	0.26	9E-6		1.55	[1.28-1.88]	Illumina [2505093] (imputed)	N
719	chr2	17609238	17609239	rs12185578	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2p24.2	RAD51AP2	rs12185578-A	0.23	9E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
720	chr2	17775031	17775032	rs4038131	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	2p24.2	VSNL1	rs4038131-?	0.93	6E-7		1.5384616	[NR]	Illumina [1847262] (imputed)	N
722	chr2	17988657	17988658	rs214034	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	2p24.2	intergenic	rs214034-?	NR	7E-6	(SF2)			Affymetrix [5476100] (imputed)	N
722	chr2	18037806	18037807	rs11680328	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p24.2	NR	rs11680328-T	NR	10E-7		1.0752687	[NR]	Illumina [7158791] (imputed)	N
724	chr2	18234445	18234446	rs16984239	17362836	Schymick JC	2007-02-20	Lancet Neurol	Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.	Amyotrophic lateral sclerosis	276 European ancestry cases, 271 European ancestry controls	NA	2p24.2	intergenic	rs16984239-?	NR	2E-6		2.1	[1.50-3.00]	Illumina [549062]	N
724	chr2	18243533	18243534	rs4075511	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	2p24.2	intergenic	rs4075511-?	NR	3E-6	(Irritable)	0.93	[NR] unit decrease	Affymetrix [703012]	N
724	chr2	18287518	18287519	rs12467348	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		2p24.2	intergenic	rs12467348-?	NR	9E-6		2.05	[NR]	Illumina [up to 810372] (imputed)	N
726	chr2	18509253	18509254	rs16984718	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	2p24.2	KCNS3, RDH14	rs16984718-G	0.98	2E-6		0.246	[0.14-0.35] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
726	chr2	18540643	18540644	rs7580332	18084291	van Es MA	2007-12-16	Nat Genet	Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	737 European ancestry cases, 721 European ancestry controls	1,030 European ancestry cases, 1,195 European ancestry controls	2p24.2	intergenic	rs7580332-?	0.45	9E-6		1.22	[1.09-1.35]	Illumina [311946]	N
728	chr2	18834650	18834651	rs1445130	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	2p24.2	NT5C1B	rs1445130-A	0.864	1E-7		0.056	[0.036-0.076] unit decrease	Illumina [6150213] (imputed)	N
730	chr2	19134747	19134748	rs1876040	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	2p24.2	AC092594.1	rs1876040-?	NR	6E-8	(Digit Span Backward)			Illumina [up to 563855]	N
732	chr2	19320802	19320803	rs12710696	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	2p24.1	intergenic	rs12710696-?	0.36	5E-8		1.1	[1.06-1.13]	Illumina [NR]	N
734	chr2	19629303	19629304	rs13398721	23478653	Han JY	2013-03-12	Pharmacogenomics J	A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.	Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer	139 individuals	NA	2p24.1	intergenic	rs13398721-?	NR	2E-7	(Recessive model)	7.1	[3.40-14.70]	Affymetrix [334127]	N
735	chr2	19781161	19781162	rs10856789	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p24.1	NR	rs10856789-?	NR	1E-7	(Native Hawaiian)	1.1678	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
737	chr2	19945576	19945577	rs2123536	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	2p24.1	TTC32, WDR35	rs2123536-T	0.39	7E-11		1.12	[1.08-1.16]	Affymetrix [~ 2200000] (imputed)	N
737	chr2	19958495	19958496	rs17564315	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	2p24.1	intergenic	rs17564315-?	NR	7E-7	(MCP1-TNF-a pattern prefenofibrate)			Affymetrix [2543887] (imputed)	N
737	chr2	19999345	19999346	rs6728440	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	2p24.1	intergenic	rs6728440-?	NR	2E-7	(hsCRP-IL6 pattern postfenofibrate)			Affymetrix [2543887] (imputed)	N
739	chr2	20261684	20261685	rs7565124	21621269	Aragam N	2011-05-26	J Affect Disord	Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.	Major depressive disorder	1,726 cases, 1,630 controls	NA	2p24.1	LAPTM4A	rs7565124-?		2E-6				Perlegen [433556]	N
740	chr2	20334722	20334723	rs6531209	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2p24.1	SDC1	rs6531209-?		3E-6				Illumina [859311]	N
740	chr2	20335708	20335709	rs4666360	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)	218 Japanese ancestry cases, 364 Japanese controls	NA	2p24.1	RPS16P2	rs4666360-C	0.114	3E-6	(Dominant model)	2.136	[1.546-2.95]	Illumina [733202]	N
740	chr2	20402379	20402380	rs1131351	25562672	Byrne EM	2014-12-09	J Clin Psychiatry	Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.	Seasonality	3,269 European ancestry individuals	887 Old order Amish individuals	2p24.1	SDC1	rs1131351-C	NR	8E-6		0.51	[0.29-0.73] unit increase	Affymetrix, Illumina [2354422] (imputed)	N
742	chr2	20688518	20688519	rs13021401	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	2p24.1	RHOB	rs13021401-T	0.23	3E-6		1.21	[1.12-1.31]	Illumina [489814]	N
744	chr2	20888264	20888265	rs13385191	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	2p24.1	C2orf43	rs13385191-G	NR	5E-6		1.17	[NR]	Illumina [4550396] (imputed)	N
744	chr2	20888264	20888265	rs13385191	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	2p24.1	C2orf43	rs13385191-G	0.44	8E-8		1.15	[1.10-1.21]	Illumina [510687]	N
744	chr2	20903014	20903015	rs4971516	21059979	Shen H	2010-11-08	Arch Intern Med	Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.	LDL cholesterol	841 Amish individuals	663 Amish inidividuals	2p24.1	APOB	rs4971516-?	0.06	2E-52	(LDL)			Affymetrix [369241]	N
744	chr2	20903014	20903015	rs4971516	21059979	Shen H	2010-11-08	Arch Intern Med	Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.	LDL cholesterol	841 Amish individuals	663 Amish inidividuals	2p24.1	APOB	rs4971516-?	0.06	2E-40	(total cholesterol)			Affymetrix [369241]	N
745	chr2	21100777	21100778	rs7569328	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	2p24.1	intergenic	rs7569328-T	0.15	1E-7		0.0995	[0.063-0.136] unit decrease	Affymetrix [~ 2740000] (imputed)	N
746	chr2	21123351	21123352	rs6711016	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	2p24.1	APOB	rs6711016-C	0.71	4E-8	(TG)	0.08	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
746	chr2	21133882	21133883	rs10198175	24882193	Winham SJ	2014-04-19	J Affect Disord	Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.	Binge eating behaviour and bipolar disorder	206 European ancestry cases with binge eating behavior, 723 European ancestry cases without binge eating behavior, 1,034 European ancestry controls	70 European ancestry cases with binge eating behavior, 758 European ancestry cases without binge eating behavior, 832 European ancestry controls	2p24.1	APOB	rs10198175-?	NR	1E-6		1.92	[NR]	Affymetrix [8466825] (imputed)	N
746	chr2	21135686	21135687	rs76588427	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	2p24.1	intergenic	rs76588427-A	0.017	3E-6		2.05	[1.52-2.76]	Illumina [611856]	N
746	chr2	21198899	21198900	rs11902417	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	2p24.1	APOB	rs11902417-G	0.78	4E-7		0.02	[0.01-0.03] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
746	chr2	21204024	21204025	rs6544366	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	2p24.1	APOB	rs6544366-T	0.22	2E-7		0.04	[0.03-0.05] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
746	chr2	21206182	21206183	rs6754295	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs6754295-?	NR	4E-47	(VLDL.small, fasting)	4.127	[NR] unit decrease	Illumina [335603]	N
746	chr2	21206182	21206183	rs6754295	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Triglycerides	17,100 European ancestry individuals, 715 Orcadian individuals	NA	2p24.1	APOB	rs6754295-C	0.25	3E-8		0.08	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
746	chr2	21206182	21206183	rs6754295	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	2p24.1	APOB	rs6754295-C	0.25	4E-8		0.07	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
746	chr2	21208210	21208211	rs7557067	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	2p24.1	APOB	rs7557067-G	0.22	9E-12		0.08	[0.04-0.12] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
746	chr2	21221034	21221035	rs4665710	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	2p24.1	APOB	rs4665710-C	0.76	1E-31		0.082	[0.068-0.096] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
746	chr2	21225280	21225281	rs1042034	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	2p24.1	APOB	rs1042034-C	0.22	1E-45		5.99	[5.11-6.87] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
746	chr2	21225280	21225281	rs1042034	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	2p24.1	APOB	rs1042034-C	0.22	1E-30		0.9	[0.72-1.08] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
746	chr2	21226559	21226560	rs2678379	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	2p24.1	APOB	rs2678379-A	0.24	7E-21		0.065	[0.051-0.079] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
746	chr2	21231523	21231524	rs676210	23247145	Makela KM	2012-12-17	Circ Cardiovasc Genet	Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium.	LDL (oxidized)	2,080 European ancestry individuals	4,238 European ancestry individuals	2p24.1	apoB	rs676210-G	0.77	3E-47		10.5	U/L increase	Illumina [2543887] (imputed)	N
746	chr2	21231523	21231524	rs676210	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs676210-?	NR	9E-56	(VLDL.total, whole)	6.384	[NR] unit decrease	Illumina [335603]	N
746	chr2	21231523	21231524	rs676210	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs676210-?	NR	4E-64	(VLDL.small, whole)	4.219	[NR] unit decrease	Illumina [335603]	N
746	chr2	21231523	21231524	rs676210	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs676210-?	NR	2E-9	(TG.assay, fasting)	0.047	[NR] unit decrease	Illumina [335603]	N
746	chr2	21231591	21231592	rs6413458	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity and mass	6,851 European ancestry individuals	13,664 European ancestry individuals	2p24.1	APOB	rs6413458-T	0.02	2E-7	(mass)	0.0398	[0.0088-0.0708] ng/ml decrease	Illumina [796174]	N
746	chr2	21232194	21232195	rs693	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	2p24.1	APOB	rs693-G	0.52	4E-17		0.1	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
746	chr2	21232194	21232195	rs693	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	2p24.1	APOB	rs693-G	0.52	9E-23		0.1	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
746	chr2	21232194	21232195	rs693	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	LDL cholesterol	4,763 Northern Finnish founder individuals	NA	2p24.1	APOB	rs693-A	0.41	3E-11		0.12	[0.09-0.16] mmol/l increase	Illumina [329091]	N
746	chr2	21232194	21232195	rs693	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	LDL cholesterol	2,758 European ancestry individuals	18,544 European ancestry individuals	2p24.1	APOB	rs693-A	0.48	1E-21		0.12	[0.10-0.14] percentage SD increase	Affymetrix [389878]	N
746	chr2	21232194	21232195	rs693	18193044	Kathiresan S	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	Triglycerides	2,758 individuals	18,544 individuals	2p24.1	APOB	rs693-A	0.48	2E-7		0.08	[0.04-0.12] percentage SD increase	Affymetrix [389878]	N
746	chr2	21232194	21232195	rs693	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Triglycerides	Up to 5,217 European ancestry individuals	NA	2p24.1	APOB	rs693-A	0.49	7E-7	(LDL)	1.0	% variance	Affymetrix [386731]	N
746	chr2	21232803	21232804	rs1041968	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	2p24.1	APOB	rs1041968-A	0.48	5E-54		0.095	[0.083-0.107] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
747	chr2	21237543	21237544	rs673548	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	2p24.1	APOB	rs673548-?	0.27	1E-13				Illumina [~ 2000000] (imputed)	N
747	chr2	21237543	21237544	rs673548	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	2p24.1	APOB	rs673548-G	0.73	1E-10	(HDL)	0.11	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
747	chr2	21237543	21237544	rs673548	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs673548-?	NR	5E-42	(VLDL.total, fasting)	6.624	[NR] unit decrease	Illumina [335603]	N
747	chr2	21237543	21237544	rs673548	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs673548-?	NR	4E-10	(TG.assay, whole)	0.041	[NR] unit decrease	Illumina [335603]	N
747	chr2	21237543	21237544	rs673548	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	2p24.1	APOB	rs673548-A	0.27	2E-8	(TG)	0.08	[0.05-0.11] mmol/l decrease	Illumina [329091]	N
747	chr2	21241504	21241505	rs12713956	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	LDL cholesterol	7,861 African American individuals, 3,425 Hispanic individuals	7,138 African American individuals	2p24.1	APOB	rs12713956-G	0.183	4E-8	(AA)	4.86	[NR] unit decrease	Affymetrix [NR]	N
747	chr2	21243999	21244000	rs10199768	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	2p24.1	APOB	rs10199768-T	0.47	8E-15	(LDL)	0.11	[0.083-0.137] mmol/l increase	Illumina [NR] (imputed)	N
747	chr2	21263899	21263900	rs1367117	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2p24.1	APOB	rs1367117-A	0.32	1E-182		0.119	[NR] unit increase	NR [NR] (imputed)	N
747	chr2	21263899	21263900	rs1367117	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	2p24.1	APOB	rs1367117-A	0.32	3E-139		0.1	[NR] unit increase	NR [NR] (imputed)	N
747	chr2	21263899	21263900	rs1367117	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	2p24.1	APOB	rs1367117-A	0.3	4E-114		4.05	[3.68-4.42] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
747	chr2	21263899	21263900	rs1367117	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	2p24.1	APOB	rs1367117-A	0.3	4E-96		4.16	[3.73-4.59] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
747	chr2	21263899	21263900	rs1367117	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs1367117-?	NR	6E-25	(LDL-C.assay, whole)	4.027	[NR] unit increase	Illumina [335603]	N
747	chr2	21263899	21263900	rs1367117	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs1367117-?	NR	2E-17	(LDL-C.assay, fasting)	3.916	[NR] unit increase	Illumina [335603]	N
747	chr2	21286056	21286057	rs515135	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	2p24.1	APOB	rs515135-C	0.83	2E-63		0.135	[0.12-0.15] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
747	chr2	21286056	21286057	rs515135	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	2p24.1	APOB	rs515135-A	0.19	2E-20		0.04	[0.03-0.05] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
747	chr2	21286056	21286057	rs515135	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	2p24.1	APOB	rs515135-T	0.20	5E-29		0.16	[0.12-0.20] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
747	chr2	21288320	21288321	rs562338	18262040	Sandhu MS	2008-02-09	Lancet	LDL-cholesterol concentrations: a genome-wide association study.	LDL cholesterol	11,685 European ancestry individuals	Up to 4,979 European ancestry individuals	2p24.1	APOB	rs562338-T	0.20	1E-9		0.04	[0.02-0.06] mmol/L decrease	Affymetrix, Illumina [up to 461986]	N
747	chr2	21288320	21288321	rs562338	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	2p24.1	APOB	rs562338-G	0.82	6E-22		4.89	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
747	chr2	21294974	21294975	rs541041	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	2p24.1	FLJ21820, GDF7, APOB	rs541041-G	0.16	8E-6	(LDL, sum)			Illumina [~ 2500000] (imputed)	N
748	chr2	21378804	21378805	rs312985	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs312985-?	NR	1E-17	(LDL.total, fasting)	0.041	[NR] unit decrease	Illumina [335603]	N
748	chr2	21389658	21389659	rs4635554	20657596	Johansen CT	2010-07-25	Nat Genet	Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.	Hypertriglyceridemia	463 European ancestry cases, 1,197 European ancestry controls	NA	2p24.1	APOB	rs4635554-G	0.31	2E-7		1.67	[1.38-2.02]	Affymetrix [~ 2100000] (imputed)	N
748	chr2	21397181	21397182	rs506585	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs506585-?	NR	3E-31	(APOB.assay, whole)	4.093	[NR] unit decrease	Illumina [335603]	N
748	chr2	21397181	21397182	rs506585	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs506585-?	NR	2E-22	(LDL.total, whole)	0.04	[NR] unit decrease	Illumina [335603]	N
748	chr2	21397181	21397182	rs506585	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p24.1	APOB	rs506585-?	NR	1E-25	(APOB.assay, fasting)	4.355	[NR] unit decrease	Illumina [335603]	N
748	chr2	21414141	21414142	rs503662	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	2p24.1	APOB	rs503662-T	0.652	3E-9		0.11	[0.075-0.145] unit decrease	Affymetrix [~ 2740000] (imputed)	N
749	chr2	21577742	21577743	rs219553	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	2p24.1	APOB	rs219553-?	0.42	7E-6		5.56	[NR]	Affymetrix [512497]	N
751	chr2	21840092	21840093	rs1117324	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	2p24.1	intergenic	rs1117324-?	0.156	3E-7	(risperidone-hip circumference)			Affymetrix [492900]	N
755	chr2	22297002	22297003	rs7600502	22788528	Kong M	2012-07-13	Int J Immunogenet	Genetic associations with C-reactive protein level and white blood cell count in the KARE study.	C-reactive protein and white blood cell count	8,722 individuals	NA	2p24.1	intergenic	rs7600502-G	0.053	3E-9	(WBC)	0.39	[NR] 10^3/ul decrease	Affymetrix [1701735] (imputed)	N
756	chr2	22530798	22530799	rs7562618	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p24.1	NR	rs7562618-C	NR	5E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
757	chr2	22568712	22568713	rs7569716	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (moderate to severe)	5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls	2,651 cases and their relatives	2p24.1	LOC645949	rs7569716-?	NR	1E-7	(AA)			Illumina [up to 701491] (imputed)	N
757	chr2	22576099	22576100	rs1605834	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	2p24.1	NR	rs1605834-?	NR	8E-6		1.3206	[NR]	Affymetrix [722112]	N
758	chr2	22736986	22736987	rs17043947	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	2p24.1	intergenic	rs17043947-T	0.04	2E-7		0.07	[NR] unit decrease	Illumina [2380486] (imputed)	N
758	chr2	22754465	22754466	rs1509378	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p24.1	NR	rs1509378-A	NR	2E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
759	chr2	22822158	22822159	rs13015955	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	2p24.1	intergenic	rs13015955-A	0.05	4E-7		0.179	[0.11-0.25] unit increase	Affymetrix [~ 2740000] (imputed)	N
761	chr2	23124557	23124558	rs10189050	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p24.1	KLHL29	rs10189050-C	0.053	4E-6	(Vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
761	chr2	23187503	23187504	rs2681019	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	2p24.1	KLHL29	rs2681019-?	0.28	8E-8		2.58	[1.82-3.66]	Affymetrix [832357]	N
762	chr2	23202247	23202248	rs7570259	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2p24.1	intergenic	rs7570259-?		6E-6	(SG)	1.59	[0.9-2.28] unit increase	Illumina [693128]	N
762	chr2	23238942	23238943	rs41458646	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	2p24.1	intergenic	rs41458646-G	0.17	8E-6				Affymetrix [614963]	N
763	chr2	23414650	23414651	rs1449984	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	2p24.1	intergenic	rs1449984-A	0.72	7E-6		0.15	[NR] unit decrease	Affymetrix, Illumina [up to 2500000] (imputed)	N
764	chr2	23548613	23548614	rs2577720	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p24.1	UBXD4	rs2577720-C	0.33	8E-6		0.82	[0.47-1.17] unit decrease	Illumina [660740]	N
764	chr2	23592144	23592145	rs2577704	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p24.1	NR	rs2577704-G	0.900979990049305	5E-6	(IGP51)	0.2366	[0.14-0.34] unit decrease	Illumina [~ 2500000] (imputed)	N
764	chr2	23592144	23592145	rs2577704	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p24.1	NR	rs2577704-G	0.900847768293775	3E-6	(IGP11)	0.2408	[0.14-0.34] unit decrease	Illumina [~ 2500000] (imputed)	N
765	chr2	23681923	23681924	rs7558233	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	2p24.1	NR	rs7558233-T	NR	8E-6		0.48	[0.26-0.7] unit increase	NR [5896100] (imputed)	N
766	chr2	23726718	23726719	rs76832595	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p24.1	NR	rs76832595-A	NR	2E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
767	chr2	23898316	23898317	rs4665630	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Hypertension	4,069 African American cases, 3,848 African American controls	1,372 African American cases, 1,482 African American controls	2p24.1	KLHL29	rs4665630-?	0.49	1E-7		1.2135922	[1.13-1.3]	Affymetrix [~ 2740000] (imputed)	N
767	chr2	23948952	23948953	rs7608623	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p24.1	KLHL29	rs7608623-C	0.229	6E-7	(Total T4 )	0.03	[NR] ug/dL increase	Illumina [899892]	N
767	chr2	23950972	23950973	rs61463699	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	2p24.1	NR	rs61463699-A	0.462	5E-7	(EA, men)	0.077	[0.048-0.106] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
768	chr2	24054646	24054647	rs35832626	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	2p23.3	ATAD2B	rs35832626-T	0.416	1E-8	(EA, men)	0.09	[0.059-0.121] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
769	chr2	24154191	24154192	rs11674248	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p23.3	ATAD2B, UBXN2A	rs11674248-A	0.254	3E-6	(Total T4 )	0.03	[NR] ug/dL increase	Illumina [899892]	N
769	chr2	24168187	24168188	rs60490158	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	2p23.3	NR	rs60490158-A	0.459	5E-7	(EA, men)	0.077	[0.048-0.106] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
769	chr2	24247513	24247514	rs7561273	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	2p23.3	ENSG00000173957, UBXD4, FKBP1B, FLJ21945	rs7561273-A	0.35	6E-6	(CRP)	0.22	[NR] mg/L decrease	Affymetrix [408775]	N
771	chr2	24496895	24496896	rs11680810	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	2p23.3	NR	rs11680810-T	0.194	5E-6	(EA, men)	0.099	[0.056-0.142] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
772	chr2	24521765	24521766	rs6707600	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	2p23.3	ITSN2	rs6707600-?	0.02	3E-6	(olanzapine)			Affymetrix [492900]	N
773	chr2	24692808	24692809	rs2165738	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	2p23.3	intergenic	rs2165738-C	0.27	4E-6		1.07	[1.01-1.13]	Affymetrix [up to 335565]	N
773	chr2	24694471	24694472	rs79480871	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	2p23.3	NCOA1, ITSN2	rs79480871-T	0.062	4E-8		1.34	[1.21-1.49]	Illumina [8363971] (imputed)	N
776	chr2	25036857	25036858	rs11895026	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	2p23.3	CENPO, ADCY3, POMC	rs11895026-A	0.24	1E-13		1.19	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
776	chr2	25040081	25040082	rs2278483	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p23.3	CENPO	rs2278483-T	0.235	8E-33		0.041	[0.035-0.047] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
776	chr2	25097643	25097644	rs13407913	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p23.3	NR	rs13407913-G	0.4306	9E-8	(EA)	1.0690905	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
776	chr2	25097643	25097644	rs13407913	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p23.3	NR	rs13407913-G	0.4306	2E-20	(EA)	1.0960438	[1.08-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
776	chr2	25097643	25097644	rs13407913	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p23.3	NR	rs13407913-G	0.4306	1E-21	(EA)	1.1213214	[1.1-1.14]	Affymetrix, Illumina [~ 9000000] (imputed)	N
776	chr2	25103107	25103108	rs2033654	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in non-asthmatics	6,025 European ancestry children, 567 children,  6,334 European ancestry adult individuals, 2,050 adult individuals	NA	2p23.3	ADCY3	rs2033654-A	0.42	2E-6	(Children)			Illumina [up to 527642]	N
776	chr2	25116976	25116977	rs7586879	23583978	Monda KL	2013-04-14	Nat Genet	A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.	Body mass index	37,956 African American individuals, 1,188 Nigerian ancestry individuals	27,661 African America/Afro-Caribbean individuals, 4,607 Sub-Saharan African ancestry individuals, 123,706 European ancestry inidividuals	2p23.3	ADCY3	rs7586879-T	0.34	4E-8	(AA and Sub-Saharan)	0.047	[0.029-0.065] unit increase	Affymetrix, Illumina [3283202] (imputed)	N
776	chr2	25118884	25118885	rs6545800	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2p23.3	ADCY3	rs6545800-T	0.445	6E-16		1.109	[1.077-1.141]	Affymetrix, Illumina [1230000] (imputed)	N
776	chr2	25131315	25131316	rs6545814	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	2p23.3	ADCY3, RBJ	rs6545814-G	0.45	1E-10		0.0331	[0.023-0.043] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
776	chr2	25131315	25131316	rs6545814	22344219	Wen W	2012-02-19	Nat Genet	Meta-analysis identifies common variants associated with body mass index in east Asians.	Body mass index	22,762 East Asian ancestry individuals, 2,522 Malay ancestry individuals, 2,431 Chinese, Malay and Asian Indian ancestry individuals	53,215 East Asian ancestry results, 2,118 Malay ancestry individuals	2p23.3	ADCY3, DNAJC27	rs6545814-G	0.45	1E-13		3.26	[1.77-4.75] % increase	Affymetrix, Illumina [2474474] (imputed)	N
776	chr2	25141537	25141538	rs11676272	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index	9,377 children and adolescents	3,918 European ancestry children and adolescents	2p23.3	ADCY3	rs11676272-A	0.514	1E-11	(age 8)	0.011	[0.0071-0.0149] unit decrease	Illumina [~ 2200000] (imputed)	N
776	chr2	25141537	25141538	rs11676272	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index	9,377 children and adolescents	3,918 European ancestry children and adolescents	2p23.3	ADCY3	rs11676272-A	0.514	1E-10	(age 1-17)			Illumina [~ 2200000] (imputed)	N
776	chr2	25141537	25141538	rs11676272	25044758	Stergiakouli E	2014-07-21	Obesity (Silver Spring)	Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3.	Height adjusted BMI	5,809 children	2,089 European ancestry children	2p23.3	ADCY3	rs11676272-G	0.48	4E-9		0.2	[0.13-0.27] unit increase	Illumina [2608006] (imputed)	N
776	chr2	25150295	25150296	rs10182181	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p23.3	ADCY3	rs10182181-G	0.468	8E-26		0.031	[0.025-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
776	chr2	25150295	25150296	rs10182181	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p23.3	ADCY3	rs10182181-G	0.463	6E-9	(EA, men)	0.023	[0.016-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
776	chr2	25150295	25150296	rs10182181	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p23.3	ADCY3	rs10182181-G	0.462	9E-24	(EA)	0.031	[0.025-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
776	chr2	25150295	25150296	rs10182181	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p23.3	ADCY3	rs10182181-G	0.46	4E-21	(EA, women)	0.037	[0.029-0.044] kg/m2 increase	Affymetrix, Illumina [2550021]	N
776	chr2	25150295	25150296	rs10182181	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	2p23.3	ADCY3, POMC	rs10182181-G	0.46	3E-14	(Overweight)	1.05	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
776	chr2	25150295	25150296	rs10182181	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	2p23.3	ADCY3, POMC	rs10182181-G	0.46	1E-17	(Obesity class I)	1.08	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
776	chr2	25158007	25158008	rs713586	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	2p23.3	ADCY3, RBJ, POMC	rs713586-C	0.47	6E-22		0.14	[0.10-0.18] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
776	chr2	25158280	25158281	rs713587	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in non-asthmatics	6,025 European ancestry children, 567 children,  6,334 European ancestry adult individuals, 2,050 adult individuals	NA	2p23.3	intergenic	rs713587-T	0.49	4E-6	(Children)			Illumina [up to 527642]	N
777	chr2	25169199	25169200	rs1172294	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	2p23.3	ADCY3, DNAJC27, POMC	rs1172294-G	0.45	1E-8	(Pubertal growth)	0.08	[0.053-0.107] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
777	chr2	25187598	25187599	rs4665736	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2p23.3	RBJ	rs4665736-T	0.55	1E-8		0.037	[0.023-0.051] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
777	chr2	25187598	25187599	rs4665736	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2p23.3	DNAJC27	rs4665736-T	0.54	7E-16		0.029	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
777	chr2	25276283	25276284	rs6733301	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	2p23.3	DTNB, ADCY3, RBJ, POMC, DNMT3A	rs6733301-G	0.87	8E-7		7.5	[4.56-10.44] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
778	chr2	25301754	25301755	rs478222	21980299	Bradfield JP	2011-09-29	PLoS Genet	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Type 1 diabetes	9,934 European ancestry cases, 16,956 European ancestry controls	1,120 European ancestry affected trios	2p23.3	EFR3B, 3NCOA1, C2orf79, CENPO, ADCY3, DNAJC27, POMC, DNMT3A	rs478222-?	0.59	4E-9		1.22	[NR]	Affymetrix, Illumina [~ 2540000] (imputed)	N
778	chr2	25305755	25305756	rs1530016	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in non-asthmatics	6,025 European ancestry children, 567 children,  6,334 European ancestry adult individuals, 2,050 adult individuals	NA	2p23.3	EFR3B	rs1530016-T	0.40	3E-6	(Children)			Illumina [up to 527642]	N
778	chr2	25352199	25352200	rs183823891	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p23.3	NR	rs183823891-T	NR	1E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
778	chr2	25369001	25369002	rs1561288	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	2p23.3	POMC	rs1561288-T	0.22	5E-8		0.055	[0.035-0.075] unit decrease	Affymetrix, Illumina [557887] (imputed)	N
778	chr2	25373297	25373298	rs13428823	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	2p23.3	POMC	rs13428823-G	0.37	6E-12		1.17	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
779	chr2	25463482	25463483	rs2289195	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p23.3	DNMT3A	rs2289195-A	0.43	2E-37		0.038	[0.032-0.044] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
779	chr2	25482969	25482970	rs11694842	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2p23.3	DNMT3A	rs11694842-A	0.92	4E-11		0.062	[0.042-0.082] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
779	chr2	25492466	25492467	rs13428812	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	2p23.3	DNMT3A	rs13428812-G	0.326	9E-10		1.06	[1.03-1.10]	Affymetrix, Illumina [953241] (imputed)	N
779	chr2	25539356	25539357	rs6722613	25064007	Nakajima M	2014-07-27	Nat Genet	A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.	Ossification of the posterior longitudinal ligament of the spine	1,112 Japanese ancestry cases, 6,810 Japanese ancestry controls	548 Japanese ancestry cases, 6,469 Japanese ancestry controls	2p23.3	NR	rs6722613-?	NR	5E-6		1.24	[1.13-1.36]	Illumina [5163786] (imputed)	N
780	chr2	25599171	25599172	rs141216273	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p23.3	NR	rs141216273-A	NR	5E-6		1.14	[NR]	Illumina [7158791] (imputed)	N
780	chr2	25613145	25613146	rs7577599	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		2p23.3	NR	rs7577599-A	0.81	6E-6	(Any IgH translocation vs. controls)	1.43	[1.22-1.67]	Illumina [414804] (imputed)	N
780	chr2	25633241	25633242	rs10180663	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		2p23.3	NR	rs10180663-A	0.69	2E-6	(t11;14 vs. controls)	1.64	[1.34-2.02]	Illumina [414804] (imputed)	N
780	chr2	25654048	25654049	rs7605235	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	2p23.3	DTNB	rs7605235-?		7E-6				NR [~ 3000000] (imputed)	N
780	chr2	25659243	25659244	rs6746082	22120009	Broderick P	2011-11-27	Nat Genet	Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.	Multiple myeloma	1,675 European ancestry cases, 5,903 European ancestry controls	169 European ancestry cases, 927 European ancestry controls	2p23.3	DTNB	rs6746082-A	0.79	4E-7		1.29	[1.17-1.42]	Illumina [422839]	N
782	chr2	25887557	25887558	rs11684202	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	2p23.3	DTNB	rs11684202-A	0.86	6E-6		0.0938	[0.053-0.134] unit decrease	Affymetrix [~ 2740000] (imputed)	N
782	chr2	25911303	25911304	rs11892454	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	2p23.3	DTNB	rs11892454-A	0.75	9E-6	(Left HG area)	13.16	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
784	chr2	26112517	26112518	rs12986445	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	2p23.3	DTNB, ASXL2	rs12986445-A	0.74	5E-6		0.17	[NR] unit increase	Illumina [12100000] (imputed)	N
784	chr2	26112517	26112518	rs12986445	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	2p23.3	DTNB, ASXL2	rs12986445-A	0.74	3E-6		0.18	[NR] unit increase	Illumina [12100000] (imputed)	N
785	chr2	26228206	26228207	rs112288323	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	2p23.3	U6, RAB10	rs112288323-T		2E-6		0.302	unit increase	Illumina [5767231] (imputed)	N
785	chr2	26249898	26249899	rs68184094	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	2p23.3	U6, RAB10	rs68184094-A		4E-6		0.2298	unit increase	Illumina [5767231] (imputed)	N
785	chr2	26249898	26249899	rs68184094	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	2p23.3	U6, RAB10	rs68184094-A	NR	2E-6		0.2363	unit increase	Illumina [5767231] (imputed)	N
785	chr2	26272601	26272602	rs13388915	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	2p23.3	RAB10	rs13388915-?		8E-6	(EA)			Illumina [NR]	N
787	chr2	26526418	26526419	rs6753473	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	2p23.3	GPR113	rs6753473-G	0.052	4E-6	(Additive model)			Affymetrix [271817]	N
788	chr2	26667129	26667130	rs3795958	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	2p23.3	OTOF, CCDC164	rs3795958-G		4E-6		0.2965	unit increase	Illumina [5767231] (imputed)	N
788	chr2	26667129	26667130	rs3795958	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	2p23.3	OTOF, CCDC164	rs3795958-G	NR	2E-6		0.2394	unit increase	Illumina [5767231] (imputed)	N
789	chr2	26782620	26782621	rs1011108	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	2p23.3	OTOF, C2Orf70, CIB4	rs1011108-T	0.341	2E-6	(P. gingi)	1.79	[1.40-2.27]	Affymetrix [~ 2500000] (imputed)	N
790	chr2	26928810	26928811	rs11126666	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p23.3	KCNK3	rs11126666-A	0.285	1E-8	(EA, men)	0.026	[0.017-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
790	chr2	26928810	26928811	rs11126666	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p23.3	KCNK3	rs11126666-A	0.283	1E-9	(EA)	0.021	[0.014-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
790	chr2	26928810	26928811	rs11126666	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p23.3	KCNK3	rs11126666-A	0.283	1E-9		0.02	[0.014-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
791	chr2	27083268	27083269	rs11887277	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p23.3	DPYSL5	rs11887277-A	0.458	5E-6	(Urinary creatinine )	0.04	[NR] mmol/d increase	Illumina [899892]	N
792	chr2	27152873	27152874	rs1371614	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	2p23.3	DPYSL5	rs1371614-?		2E-12				Affymetrix, Illumina [~ 2400000] (imputed)	N
793	chr2	27342893	27342894	rs7588926	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	2p23.3	CGREF1	rs7588926-?		9E-6				Affymetrix, Illumina [1348798]	N
794	chr2	27424635	27424636	rs1395	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p23.3	SLC5A6	rs1395-A	0.7	8E-11	(pantothenate)	0.017	[0.011-0.023] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
795	chr2	27587723	27587724	rs1058065	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p23.3	NR	rs1058065-G	0.97552739311682	4E-6	(IGP56)	0.54	[0.31-0.77] unit increase	Illumina [~ 2500000] (imputed)	N
795	chr2	27598096	27598097	rs4665972	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	Triglycerides	7,601 African American individuals, 3,335 Hispanic individuals	7,138 African American individuals	2p23.3	GCKR	rs4665972-T	0.123	1E-8	(AA)	0.065	[NR] unit increase	Affymetrix [NR]	N
795	chr2	27598096	27598097	rs4665972	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	2p23.3	SLC4A1AP, GCKR	rs4665972-T	0.448	1E-6		0.08	[0.047-0.113] cup size increase	Illumina [7422970] (imputed)	N
795	chr2	27635462	27635463	rs1728918	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	2p23.3	UCN	rs1728918-A	0.299	5E-16		1.123	[1.086-1.16]	Affymetrix, Illumina [1230000] (imputed)	N
796	chr2	27715415	27715416	rs2303369	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	2p23.3	FNDC4	rs2303369-T	0.388	2E-12		0.175	[0.13-0.22] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
796	chr2	27730939	27730940	rs1260326	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p23.3	NR	rs1260326-A	0.4059	1E-14	(EA)	1.080162	[1.06-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	26174136	Setoh K	2015-07-15	Nat Commun	Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels.	Serum alpha1-antitrypsin levels	3,294 Japanese ancestry individuals	6,065 Japanese ancestry individuals	2p23.3	GCKR	rs1260326-C	0.432	3E-16		2.05	[1.56-2.54] mg dl-1 increase	Illumina [6569727] (imputed)	N
796	chr2	27730939	27730940	rs1260326	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	2p23.3	GCKR	rs1260326-T	0.36	5E-88		0.123	[0.11-0.13] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
796	chr2	27730939	27730940	rs1260326	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	2p23.3	GCKR	rs1260326-T	0.36	3E-13		0.045	[0.033-0.057] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
796	chr2	27730939	27730940	rs1260326	25898920	Korostishevsky M	2015-04-22	Eur J Hum Genet	Genomics and metabolomics of muscular mass in community-based sample of UK females.	Blood metabolite levels	3,953 European ancestry individuals	NA	2p23.3	NR	rs1260326-?	NR	6E-56	(Mannose levels)			Illumina [2300000]	N
796	chr2	27730939	27730940	rs1260326	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	2p23.3	GCKR	rs1260326-C	0.58	8E-7		0.055	[0.033-0.077] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
796	chr2	27730939	27730940	rs1260326	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	2p23.3	GCKR	rs1260326-C	0.58	6E-6	(men)	0.065	[0.038-0.092] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
796	chr2	27730939	27730940	rs1260326	25646370	Matsuo H	2015-02-02	Ann Rheum Dis	Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.	Gout	945 Japanese ancestry cases, 1,213 Japanese ancestry controls	1,048 Japanese ancestry cases, 1,334 Japanese ancestry controls	2p23.3	GCKR	rs1260326-T	0.55	2E-12		1.36	[1.25-1.48]	Illumina [570442]	N
796	chr2	27730939	27730940	rs1260326	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption (cups per day)	91,462 European ancestry individuals	30,062 European ancestry individuals, 7,964 African American individuals	2p23.3	GCKR, FNDC4	rs1260326-T	0.41	7E-8		0.04	[0.020-0.060] unit decrease	Affymetrix, Illumina [2373958] (imputed)	N
796	chr2	27730939	27730940	rs1260326	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	2p23.3	GCKR	rs1260326-T	0.41	3E-148	(glucose/mannose)	0.041	[0.037-0.045] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p23.3	GCKR	rs1260326-T	0.41	6E-14	(alanine)	0.013	[0.0091-0.0169] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p23.3	GCKR	rs1260326-T	0.41	1E-77	(mannose)	0.044	[0.04-0.048] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	2p23.3	GCKR	rs1260326-T	0.44	3E-7	(TG)	0.07	mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
796	chr2	27730939	27730940	rs1260326	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	2p23.3	GCKR	rs1260326-T	0.39	2E-239		0.115	[NR] mg/dL increase	NR [NR] (imputed)	N
796	chr2	27730939	27730940	rs1260326	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	2p23.3	GCKR	rs1260326-T	0.39	3E-42		0.051	[NR] unit increase	NR [NR] (imputed)	N
796	chr2	27730939	27730940	rs1260326	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	2p23.3	GCKR	rs1260326-T	0.409	6E-13	(FPG)	0.0044	[NR] unit decrease	Illumina [up to 945994] (imputed)	N
796	chr2	27730939	27730940	rs1260326	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	2p23.3	GCKR	rs1260326-T	0.409	6E-11	(FCP)	0.0116	[NR] unit decrease	Illumina [up to 945994] (imputed)	N
796	chr2	27730939	27730940	rs1260326	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	Hypertriglyceridemia	1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls	2p23.3	ZNF512, KRTCAP3, FNDC4, IFT172, GCKR, PPM1G, NRBP1, C2orf16	rs1260326-?	0.26	2E-13		1.41	[1.31-1.51]	Illumina [1361436] (imputed)	N
796	chr2	27730939	27730940	rs1260326	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	2p23.3	GCKR	rs1260326-T	0.41	1E-44		0.074	[0.063-0.084] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
796	chr2	27730939	27730940	rs1260326	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity and mass	6,851 European ancestry individuals	13,664 European ancestry individuals	2p23.3	GCKR	rs1260326-T	0.44	5E-6	(mass)	0.0053	[-0.00215-0.01275] ng/ml decrease	Illumina [796174]	N
796	chr2	27730939	27730940	rs1260326	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	2p23.3	FNDC4, GCKR	rs1260326-T	0.56	4E-6	(Japanese)	0.031	[0.017-0.045] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	2p23.3	FNDC4, GCKR	rs1260326-T	0.44	6E-8		0.0179	[0.011-0.024] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	2p23.3	GCKR-FNDC4	rs1260326-T	0.41	4E-19		0.0138	[0.011-0.017] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	2p23.3	FNDC4, GCKR	rs1260326-T	0.56	2E-8	(Japanese)	0.027	[0.017-0.037] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	2p23.3	FNDC4, GCKR	rs1260326-T	0.41	3E-14	(EA)	0.0124	[0.0093-0.0155] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	2p23.3	GCKR	rs1260326-?	0.36	1E-12				Illumina [~ 2000000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	22558069	Osman W	2012-04-27	PLoS One	Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.	Non-albumin protein levels	Up to 9,103 Japanese ancestry individuals	Up to 1,629 Japanese ancestry individuals	2p23.3	GCKR	rs1260326-C	0.445	3E-9	(ALB)	0.08	[0.053-0.107] unit decrease	Illumina [2178644] (imputed)	N
796	chr2	27730939	27730940	rs1260326	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	2p23.3	GCKR	rs1260326-?	NR	3E-18	(Ala, Gln)	0.15	[0.11-0.19] unit decrease	Illumina [~ 7700000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	2p23.3	GCKR	rs1260326-T	NR	9E-10		2.334	[1.59-3.08] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	2p23.3	GCKR, C2orf16	rs1260326-T	0.38	4E-13		3.2	[2.40-4.0] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	2p23.3	GCKR	rs1260326-T	0.40	2E-8	(TRIG)	0.082	[0.053-0.111] mmol/l increase	Illumina [NR] (imputed)	N
796	chr2	27730939	27730940	rs1260326	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	2p23.3	GCKR	rs1260326-T	NR	5E-40		0.072	[0.06-0.08] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	2p23.3	GCKR	rs1260326-T	0.41	6E-133		8.76	[7.98-9.54] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	2p23.3	GCKR	rs1260326-T	0.41	7E-27		1.91	[1.54-2.28] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	20657596	Johansen CT	2010-07-25	Nat Genet	Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.	Hypertriglyceridemia	463 European ancestry cases, 1,197 European ancestry controls	NA	2p23.3	GCKR	rs1260326-T	0.41	7E-9		1.75	[1.45-2.12]	Affymetrix [~ 2100000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	2p23.3	FNDC4, IFT172, GCKR	rs1260326-T	0.41	3E-14	(eGFRcrea)	0.01	[0.007-0.011] ml/min/1.73 m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Triglycerides	8,993 Japanese ancestry individuals	NA	2p23.3	GCKR	rs1260326-C	0.45	1E-11		0.101	[0.072-0.13] unit decrease	Illumina [561583]	N
796	chr2	27730939	27730940	rs1260326	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	2p23.3	GCKR	rs1260326-C	0.44	4E-9	(ALB)	0.085	[0.056-0.114] unit decrease	Illumina [561583]	N
796	chr2	27730939	27730940	rs1260326	20081857	Saxena R	2010-01-17	Nat Genet	Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.	Two-hour glucose challenge	15,234 individuals	up to 30,620 European ancestry individuals	2p23.3	GCKR	rs1260326-T	NR	3E-10		0.07	[0.05-0.09] mmol/L increase	Affymetrix, Illumina [NR]	N
796	chr2	27730939	27730940	rs1260326	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p23.3	GCKR	rs1260326-?	NR	4E-32	(TG.assay, fasting)	0.075	[NR] unit increase	Illumina [335603]	N
796	chr2	27730939	27730940	rs1260326	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p23.3	GCKR	rs1260326-?	NR	4E-24	(VLDL.large, fasting)	0.362	[NR] unit increase	Illumina [335603]	N
796	chr2	27730939	27730940	rs1260326	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p23.3	GCKR	rs1260326-?	NR	3E-35	(TG.by.NMR, whole)	0.052	[NR] unit increase	Illumina [335603]	N
796	chr2	27730939	27730940	rs1260326	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p23.3	GCKR	rs1260326-?	NR	3E-29	(TG.by.NMR, fasting)	0.056	[NR] unit increase	Illumina [335603]	N
796	chr2	27730939	27730940	rs1260326	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p23.3	GCKR	rs1260326-?	NR	3E-28	(VLDL.large, whole)	0.342	[NR] unit increase	Illumina [335603]	N
796	chr2	27730939	27730940	rs1260326	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p23.3	GCKR	rs1260326-?	NR	1E-37	(TG.assay, whole)	0.07	[NR] unit increase	Illumina [335603]	N
796	chr2	27730939	27730940	rs1260326	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	2p23.3	GCKR	rs1260326-A	0.35	4E-10	(TG)	0.09	[0.06-0.12] mmol/l increase	Illumina [329091]	N
796	chr2	27730939	27730940	rs1260326	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	2p23.3	GCKR	rs1260326-T	0.45	2E-31		0.12	[0.08-0.16] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
796	chr2	27730939	27730940	rs1260326	18454146	Chambers JC	2008-05-04	Nat Genet	Common genetic variation near MC4R is associated with waist circumference and insulin resistance.	Waist circumference and related phenotypes	2,684 Indian Asian ancestry male individuals	7,394 Indian Asian ancestry individuals, 4,561 European ancestry individuals	2p23.3	GCKR	rs1260326-?	NR	4E-8	(triglycerides)			Illumina [308067]	N
796	chr2	27741236	27741237	rs780094	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p23.3	NR	rs780094-?	NR	4E-22	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
796	chr2	27741236	27741237	rs780094	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	2p23.3	GCKR	rs780094-C	0.59	6E-6		0.05	[0.028-0.072] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
796	chr2	27741236	27741237	rs780094	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	2p23.3	GCKR	rs780094-C	0.6	2E-8		0.085	[0.056-0.114] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
796	chr2	27741236	27741237	rs780094	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p23.3	GCKR	rs780094-T	0.386	6E-12		0.021	[0.015-0.027] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
796	chr2	27741236	27741237	rs780094	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	2p23.3	GCKR	rs780094-?	NR	4E-9		0.052	[0.034-0.070] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
796	chr2	27741236	27741237	rs780094	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	2p23.3	GCKR	rs780094-T	0.42	1E-10		0.017	[0.016-0.018] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
796	chr2	27741236	27741237	rs780094	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	Triglycerides	7,601 African American individuals, 3,335 Hispanic individuals	7,138 African American individuals	2p23.3	GCKR	rs780094-C	0.358	7E-9	(Hispanic)	0.0688	[NR] unit increase	Affymetrix [NR]	N
796	chr2	27741236	27741237	rs780094	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	2p23.3	GCKR	rs780094-?	NR	3E-10				Affymetrix, Illumina [~ 2400000] (imputed)	N
796	chr2	27741236	27741237	rs780094	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	2p23.3	GCKR	rs780094-?	NR	4E-24				Affymetrix, Illumina [~ 2400000] (imputed)	N
796	chr2	27741236	27741237	rs780094	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	2p23.3	GCKR	rs780094-A	0.36	6E-20	(TG)	0.13	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
796	chr2	27741236	27741237	rs780094	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	2p23.3	GCKR	rs780094-T	0.399	6E-53	(glucose/mannose + 54 other traits)	0.101	[NR] unit increase	Affymetrix, Illumina [534665]	N
796	chr2	27741236	27741237	rs780094	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	2p23.3	GCKR	rs780094-T	NR	9E-9	(DPA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
796	chr2	27741236	27741237	rs780094	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Urate levels	8,868 Japanese ancestry individuals	NA	2p23.3	GCKR	rs780094-T	0.57	5E-6		0.069	[0.040,0.098] unit increase	Illumina [561583]	N
796	chr2	27741236	27741237	rs780094	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting insulin-related traits	up to 38,238 European ancestry individuals	up to 62,264 European ancestry individuals	2p23.3	GCKR	rs780094-C	0.62	4E-20	(FI)			Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27741236	27741237	rs780094	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting insulin-related traits	up to 38,238 European ancestry individuals	up to 62,264 European ancestry individuals	2p23.3	GCKR	rs780094-C	0.62	3E-24	(HOMA-IR)			Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27741236	27741237	rs780094	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	2p23.3	GCKR	rs780094-C	0.62	6E-38	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27741236	27741237	rs780094	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	2p23.3	GCKR	rs780094-C	0.62	4E-20	(FI)			Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27741236	27741237	rs780094	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	2p23.3	GCKR	rs780094-C	0.62	3E-24	(HOMA-IR)			Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27741236	27741237	rs780094	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	2p23.3	GCKR	rs780094-T	0.42	1E-9		0.05	[0.035-0.068] mg/dl increase	Affymetrix, Illumina [2493963] (imputed)	N
796	chr2	27741236	27741237	rs780094	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Triglycerides	17,100 European ancestry individuals, 715 Orcadian individuals	NA	2p23.3	GCKR	rs780094-G	0.63	3E-20		0.1	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
796	chr2	27741236	27741237	rs780094	18439548	Ridker PM	2008-04-24	Am J Hum Genet	Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.	C-reactive protein	6,345 European ancestry female individuals	NA	2p23.3	GCKR	rs780094-A	NR	7E-15		0.14	[NR] mg/dl increase	Illumina [336108]	N
796	chr2	27741236	27741237	rs780094	18193044	Kathiresan S	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	Triglycerides	2,758 individuals	18,544 individuals	2p23.3	GCKR	rs780094-T	0.34	3E-14		0.13	[0.09-0.17] percentage SD increase	Affymetrix [389878]	N
796	chr2	27741236	27741237	rs780094	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	Triglycerides	8,684 European ancestry individuals	9,741 European ancestry individuals	2p23.3	GCKR	rs780094-T	0.39	6E-32		8.59	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
796	chr2	27741236	27741237	rs780094	18179892	Wallace C	2008-01-10	Am J Hum Genet	Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.	LDL cholesterol	1,955 European ancestry hypertensive individuals	2,033 European ancestry individuals from 519 families, 1,461 European ancestry twins	2p23.3	GCKR	rs780094-T	0.39	5E-7				Affymetrix [400496]	N
796	chr2	27742602	27742603	rs780093	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2p23.3	GCKR	rs780093-?		1E-6	(SG)	0.14	[0.081-0.199] unit increase	Illumina [693128]	N
796	chr2	27742602	27742603	rs780093	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		2p23.3	ZNF512, XAB1, GCKR, C2orf16	rs780093-T	0.41	1E-9		0.02	[0.014-0.027] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27742602	27742603	rs780093	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		2p23.3	GCKR	rs780093-T	NR	3E-6		0.1261	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27742602	27742603	rs780093	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	2p23.3	GCKR	rs780093-T	0.40	9E-11	(Women)	0.041	[0.029-0.053] nmol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
796	chr2	27742602	27742603	rs780093	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	2p23.3	GCKR	rs780093-T	0.40	7E-8	(Men)	0.026	[0.016-0.036] nmol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
796	chr2	27742602	27742603	rs780093	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	2p23.3	GCKR	rs780093-T	0.40	2E-16	(Men + Women)	0.032	[0.024-0.040] nmol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
796	chr2	27742602	27742603	rs780093	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	2p23.3	SLC4A1AP	rs780093-T	0.416	5E-6		0.072	[0.041-0.103] cup size increase	Illumina [7422970] (imputed)	N
796	chr2	27742602	27742603	rs780093	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Waist Circumference - Triglycerides (WC-TG)	22,161 European ancestry individuals	NA	2p23.3	GCKR	rs780093-A	NR	2E-12		0.19	[0.13-0.25] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27742602	27742603	rs780093	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Triglycerides-Blood Pressure (TG-BP)	22,161 European ancestry individuals	NA	2p23.3	GCKR	rs780093-A	NR	3E-10		0.18	[0.12-0.24] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27742602	27742603	rs780093	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	2p23.3	GCKR	rs780093-T	0.418	5E-11		1.15	[1.10-1.21]	Affymetrix, Illumina [953241] (imputed)	N
796	chr2	27742602	27742603	rs780093	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	2p23.3	GCKR	rs780093-T	0.40	4E-17	(Urate)	5.15	[3.95-6.35] umol/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27742602	27742603	rs780093	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	2p23.3	FNDC4, IFT172, GCKR, C2orf16	rs780093-T	NR	7E-6		0.02	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr2	27743153	27743154	rs780092	24023260	Wu Y	2013-09-10	J Lipid Res	Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.	Lipid traits	1,782 Filipino ancestry mothers	1,719 Filipino ancestry offsprings	2p23.3	GCKR	rs780092-A	0.68	2E-9	(TG)	0.08	[0.060-0.100] unit increase	Affymetrix [~ 3700000] (imputed)	N
796	chr2	27743153	27743154	rs780092	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Triglycerides	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	2p23.3	GCKR	rs780092-G	0.33	5E-27		0.05	[0.041-0.059] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
796	chr2	27743153	27743154	rs780092	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	2p23.3	GCKR	rs780092-G	0.33	5E-18	(ALB)	0.0232	[-0.02972-0.07612] g/dL decrease	Affymetrix [~ 2200000] (imputed)	N
796	chr2	27748623	27748624	rs1260333	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	2p23.3	GCKR	rs1260333-C	0.55	2E-19		0.05	[0.04-0.06] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
797	chr2	27801758	27801759	rs1919128	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Waist Circumference - Triglycerides (WC-TG)	22,161 European ancestry individuals	NA	2p23.3	C2orf16	rs1919128-A	NR	2E-9		0.18	[0.12-0.24] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
797	chr2	27815509	27815510	rs13022873	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Waist Circumference - Triglycerides (WC-TG)	22,161 European ancestry individuals	NA	2p23.3	ZNF512	rs13022873-A	NR	5E-9		0.17	[0.11-0.23] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
797	chr2	27840639	27840640	rs4666002	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	2p23.3	GCKR	rs4666002-?	NR	7E-11	(levels)	0.0	[1.10-0.70] % increase	Illumina [NR] (imputed)	N
797	chr2	27851917	27851918	rs3749147	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Waist Circumference - Triglycerides (WC-TG)	22,161 European ancestry individuals	NA	2p23.3	CCDC121	rs3749147-C	NR	1E-9		0.18	[0.12-0.24] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
797	chr2	27859316	27859317	rs111571364	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	2p23.3	GPN1	rs111571364-T	0.02	8E-6	(Age 20-60 years)	3.46	[2.01-5.97]	Affymetrix, Illumina [up to 17585496] (imputed)	N
797	chr2	27907472	27907473	rs17006206	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	2p23.3	SLC4A1AP	rs17006206-G	0.10	2E-6		2.05	[1.52-2.76]	Illumina [2505093] (imputed)	N
798	chr2	27995780	27995781	rs3736594	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	2p23.2	MRPL33	rs3736594-?		1E-15				Affymetrix, Illumina [~ 2400000] (imputed)	N
798	chr2	28033537	28033538	rs12474906	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p23.2	BRE, GPN1, MIR4263, MRPL33, RBKS, SLC4A1AP, SUPT7L	rs12474906-A	NR	4E-8		1.07	[NR]	Illumina [7158791] (imputed)	N
801	chr2	28347681	28347682	rs7601155	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist circumference	Up to 23,564 African American individuals	Up to 10,027 African American individuals	2p23.2	BRE	rs7601155-T	0.13	2E-7	(pooled)	0.06	[0.04-0.08] unit increase	Affymetrix, Illumina [3200000] (imputed)	N
803	chr2	28584314	28584315	rs7602568	26293465	Durda P	2015-08-20	Arterioscler Thromb Vasc Biol	Plasma Levels of Soluble Interleukin-2 Receptor ?: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan.	Soluble interleukin-2 receptor subunit alpha	2,964 European ancestry individuals, 683 African American individuals	4,464 European ancestry individuals	2p23.2	BRE, FOSL2	rs7602568-?		6E-6	(AA)			Illumina [2200000] (imputed)	N
803	chr2	28614793	28614794	rs925255	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p23.2	NR	rs925255-A	0.55	1E-16	(EA)	1.1052196		Affymetrix, Illumina [~ 9000000] (imputed)	N
803	chr2	28614793	28614794	rs925255	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2p23.2	FOSL2, BRE	rs925255-C	0.557	3E-15		1.092	[1.061-1.124]	Affymetrix, Illumina [1230000] (imputed)	N
803	chr2	28636739	28636740	rs2279990	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p23.2	NR	rs2279990-?	NR	3E-15	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
803	chr2	28646800	28646801	rs6547853	21980299	Bradfield JP	2011-09-29	PLoS Genet	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Type 1 diabetes	9,934 European ancestry cases, 16,956 European ancestry controls	1,120 European ancestry affected trios	2p23.2	FOSL2	rs6547853-?	0.60	8E-7		1.19	[NR]	Affymetrix, Illumina [~ 2540000] (imputed)	N
806	chr2	28973882	28973883	rs4372836	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p23.2	PPP1CB	rs4372836-T	0.309	9E-7		0.016	[0.0092-0.0218] kg/m2 increase	Affymetrix, Illumina [2550021]	N
808	chr2	29247996	29247997	rs13008299	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Diastolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	2p23.2	FAM179A	rs13008299-G	0.29	7E-8	(drinks/week)	0.068	[0.033-0.103] unit decrease	Affymetrix [2500000] (imputed)	N
808	chr2	29280760	29280761	rs882632	20125088	Shi J	2010-02-02	Mol Psychiatry	Genome-wide association study of recurrent early-onset major depressive disorder.	Major depressive disorder	1,020 European ancestry cases, 1,636 European ancestry controls	NA	2p23.2	FAM179A, C2orf71	rs882632-T	0.29	2E-6		1.34		Affymetrix [671424]	N
811	chr2	29743732	29743733	rs7578465	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p23.2	ALK	rs7578465-T	0.455	8E-6	(EA, men)	0.023	[0.013-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
813	chr2	29973280	29973281	rs13411840	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2p23.2	ALK	rs13411840-?		3E-6	(SI+M)	0.28	[-0.0336-0.5936] unit decrease	Illumina [693128]	N
817	chr2	30445025	30445026	rs7579944	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	2p23.1	LBH	rs7579944-?	NR	1E-8				Illumina [472854]	N
817	chr2	30449593	30449594	rs10175798	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2p23.1	LBH	rs10175798-A	0.62	4E-8	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
817	chr2	30449593	30449594	rs10175798	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2p23.1	LBH	rs10175798-A	0.54	1E-9		1.08	[1.06-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
817	chr2	30498652	30498653	rs13406665	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p23.1	NR	rs13406665-?	NR	3E-6	(Japanese)	0.4538	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
817	chr2	30526779	30526780	rs6708166	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	2p23.1	LBH	rs6708166-A	0.40	1E-6	(FVIII activity)	0.17	[0.09-0.25] IU/dL decrease	Illumina [442728]	N
821	chr2	30986744	30986745	rs78355147	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p23.1	NR	rs78355147-?	NR	5E-7	(Latino)	0.9913	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
822	chr2	31068018	31068019	rs12613372	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	2p23.1	GALNT14, CAPN13	rs12613372-G	0.07	2E-7	(AA)	1.24	[1.14-1.34]	Affymetrix, Illumina [2579389] (imputed)	N
823	chr2	31314554	31314555	rs1000916	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	2p23.1	GALNT14	rs1000916-?	NR	9E-6				Illumina [990115]	N
824	chr2	31376653	31376654	rs6543610	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	2p23.1	intergenic	rs6543610-C	0.02	1E-7			[NR]	Affymetrix [398699]	N
824	chr2	31402406	31402407	rs149864795	25407941	Sleiman PM	2014-11-19	Nat Commun	GWAS identifies four novel eosinophilic esophagitis loci.	Eosinophilic esophagitis	603 European ancestry cases, 3,637 European ancestry controls	333 European ancestry cases, 675 European ancestry controls	2p23.1	CAPN14	rs149864795-A	0.052	5E-10		2.216	[1.97-2.47]	Illumina [~ 2300000] (imputed)	N
824	chr2	31411286	31411287	rs77569859	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	2p23.1	CAPN14	rs77569859-G	0.05	3E-10		1.98	[NR]	Illumina [1468075]	N
825	chr2	31464384	31464385	rs649729	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	2p23.1	EHD3	rs649729-A	NR	4E-6		0.07	[NR] unit decrease	Illumina [476395]	N
825	chr2	31464384	31464385	rs649729	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	2p23.1	EHD3	rs649729-T	NR	1E-12		0.008	[0.006-0.01] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
825	chr2	31464828	31464829	rs647316	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	2p23.1	EHD3	rs647316-A	NR	3E-11		0.01	[0.006-0.014] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
825	chr2	31474241	31474242	rs597800	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Estradiol levels	1,583 European ancestry female individuals	NA	2p23.1	EHD3	rs597800-C	0.15	5E-7		0.148	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
825	chr2	31482299	31482300	rs625132	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	2p23.1	EHD3	rs625132-G	NR	9E-14		4.236	[3.12-5.35] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
826	chr2	31590784	31590785	rs761926	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p23.1	XDH	rs761926-G	0.37	4E-6	(Urinary free dopamine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
827	chr2	31810973	31810974	rs559555	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	2p23.1	SRD5A2	rs559555-A	0.56	1E-44	(X-11444/X-12844)	0.036	[0.03-0.042] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
827	chr2	31810973	31810974	rs559555	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p23.1	SRD5A2	rs559555-A	0.56	7E-19	(X-11470)	0.031	[0.023-0.039] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
827	chr2	31810973	31810974	rs559555	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p23.1	SRD5A2	rs559555-A	0.56	4E-22	(X-11444)	0.033	[0.027-0.039] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
831	chr2	32246194	32246195	rs139157003	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p22.3	NR	rs139157003-?	NR	7E-8	(AA)	1.6118	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
831	chr2	32278781	32278782	rs7577696	24182552	Matteini AM	2013-10-29	Cytokine	Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.	Inflammatory biomarkers	4,443 European ancestry older adult individuals	NA	2p22.3	SRD5A2, DPY30, SPAST, SLC30A6, NLRC4	rs7577696-G	0.41	3E-19	(IL18)	0.08	[0.060-0.100] unit increase	Illumina [2543887] (imputed)	N
835	chr2	32865520	32865521	rs1031261	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	2p22.3	TTC27	rs1031261-C	0.11	2E-6	(White matter hyperintensities)			Illumina [2131250] (imputed)	N
837	chr2	33059095	33059096	rs11680788	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	2p22.3	LINC00486	rs11680788-?	NR	8E-7		1.72	[1.39-2.13]	Affymetrix, Illumina [NR] (imputed)	N
837	chr2	33059095	33059096	rs11680788	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	2p22.3	LINC00486	rs11680788-?	NR	4E-8	(Latino)	2.13	[1.35-5.26]	Affymetrix, Illumina [NR] (imputed)	N
837	chr2	33121503	33121504	rs6728021	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune response to smallpox vaccine (IL-6)	Up to 512 European ancestry individuals, 199 African American individuals	NA	2p22.3	LTBP1	rs6728021-G		4E-8	(AA)			Illumina [NR]	N
839	chr2	33301946	33301947	rs542631	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	2p22.3	LTBP1	rs542631-A		1E-7	(EA)			Illumina [NR]	N
839	chr2	33360337	33360338	rs1545552	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	2p22.3	LTBP1	rs1545552-G	0.72	2E-10		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
839	chr2	33361424	33361425	rs6714546	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p22.3	LTBP1	rs6714546-A	0.279	2E-18		0.03	[0.024-0.036] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
839	chr2	33361424	33361425	rs6714546	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2p22.3	LTBP1	rs6714546-A	0.28	2E-9		0.026	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
840	chr2	33471191	33471192	rs3769528	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2p22.3	LTBP1	rs3769528-A	0.82	7E-22		0.059	[0.043-0.075] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
840	chr2	33471191	33471192	rs3769528	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	2p22.3	LTBP1	rs3769528-G	0.15	8E-8		0.08	[0.05-0.11] cm decrease	Illumina [420885]	N
840	chr2	33527298	33527299	rs41464348	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	2p22.3	LTBP1	rs41464348-T	0.35	7E-6		0.37	[NR] cm decrease	Affymetrix [334546]	N
842	chr2	33701889	33701890	rs13385731	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	2p22.3	RASGRP3	rs13385731-A	0.83	4E-6		1.3889		Illumina [2100739] (imputed)	N
842	chr2	33701889	33701890	rs13385731	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	2p22.3	RASGRP3	rs13385731-A	0.85	1E-15		1.43	[1.32-1.56]	Illumina [493955]	N
842	chr2	33776679	33776680	rs2367809	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	2p22.3	NR	rs2367809-?		7E-7	(PCB194)	0.26	[0.16-0.36] unit increase	Illumina [8736858] (imputed)	N
846	chr2	34284851	34284852	rs9308945	19421330	Yang HC	2009-05-07	PLoS One	Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.	Hypertension (young onset)	175 Han Chinese ancestry cases, 175 Han Chinese ancestry controls	833 Han Chinese ancestry cases, 833 Han Chinese ancestry controls	2p22.3	LOC344371, MYADML, FAM98A, RASGRP3	rs9308945-?,rs6711736-?,rs6729869-?,rs10495809-?	NR	3E-10				Affymetrix [91713]	N
846	chr2	34284983	34284984	rs6711736	19421330	Yang HC	2009-05-07	PLoS One	Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.	Hypertension (young onset)	175 Han Chinese ancestry cases, 175 Han Chinese ancestry controls	833 Han Chinese ancestry cases, 833 Han Chinese ancestry controls	2p22.3	LOC344371, MYADML, FAM98A, RASGRP3	rs9308945-?,rs6711736-?,rs6729869-?,rs10495809-?	NR	3E-10				Affymetrix [91713]	N
846	chr2	34285193	34285194	rs6729869	19421330	Yang HC	2009-05-07	PLoS One	Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.	Hypertension (young onset)	175 Han Chinese ancestry cases, 175 Han Chinese ancestry controls	833 Han Chinese ancestry cases, 833 Han Chinese ancestry controls	2p22.3	LOC344371, MYADML, FAM98A, RASGRP3	rs9308945-?,rs6711736-?,rs6729869-?,rs10495809-?	NR	3E-10				Affymetrix [91713]	N
846	chr2	34305256	34305257	rs10495809	19421330	Yang HC	2009-05-07	PLoS One	Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.	Hypertension (young onset)	175 Han Chinese ancestry cases, 175 Han Chinese ancestry controls	833 Han Chinese ancestry cases, 833 Han Chinese ancestry controls	2p22.3	LOC344371, MYADML, FAM98A, RASGRP3	rs9308945-?,rs6711736-?,rs6729869-?,rs10495809-?	NR	3E-10				Affymetrix [91713]	N
848	chr2	34480074	34480075	rs6733379	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	2p22.3	intergenic	rs6733379-G	0.28	4E-6				Perlegen [378332]	N
849	chr2	34631031	34631032	rs6543833	22116950	Schuh-Huerta SM	2011-11-24	Hum Reprod	Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.	Ovarian reserve	232 European ancestry female individuals, 200 African American female individuals	NA	2p22.3	MYADML	rs6543833-?		8E-8	(FSH levels - AA)			Affymetrix [677261]	N
849	chr2	34672920	34672921	rs10495822	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2p22.3	LOC100288911	rs10495822-?		8E-6				Illumina [859311]	N
852	chr2	35093292	35093293	rs7600259	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	2p22.3	intergenic	rs7600259-?	NR	1E-6	(SF9)			Affymetrix [5476100] (imputed)	N
855	chr2	35404010	35404011	rs968059	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p22.3	LOC100288911	rs968059-C	0.387	4E-6	(EA)	0.015	[0.0084-0.0206] kg/m2 increase	Affymetrix, Illumina [2550021]	N
855	chr2	35404010	35404011	rs968059	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p22.3	LOC100288911	rs968059-C	0.381	9E-7		0.015	[0.009-0.0208] kg/m2 increase	Affymetrix, Illumina [2550021]	N
856	chr2	35526917	35526918	rs6750486	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	2p22.3	intergenic	rs6750486-T	0.126	6E-6		0.1	[NR] unit increase	Illumina [948658]	N
857	chr2	35662796	35662797	rs13402855	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	2p22.3	intergenic	rs13402855-C	NR	2E-6		0.2262	unit increase	Illumina [5767231] (imputed)	N
863	chr2	36526435	36526436	rs1863080	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	2p22.3	CRIM1	rs1863080-?	0.10	8E-6	(brachial circumference)	0.31	[0.17-0.45] mm increase	Illumina [316730]	N
864	chr2	36675529	36675530	rs848512	23967269	Kim JH	2013-08-13	PLoS One	A genome-wide association study of total serum and mite-specific IgEs in asthma patients.	IgE levels in asthmatics	877 Korean ancestry cases	NA	2p22.2	CRIM1	rs848512-?		1E-6				Illumina [442089]	N
864	chr2	36683427	36683428	rs3755206	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2p22.2	CRIM1	rs3755206-T	0.87	1E-12		0.048	[0.03-0.066] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
865	chr2	36768874	36768875	rs711245	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p22.2	CRIM1	rs711245-A	0.332	4E-14		0.024	[0.018-0.03] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
866	chr2	36865754	36865755	rs74853015	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	2p22.2	NR	rs74853015-?		3E-7	(PCB170)	1.62	[0.99-2.25] unit decrease	Illumina [8736858] (imputed)	N
869	chr2	37354148	37354149	rs4233921	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2p22.2	EIF2AK2	rs4233921-?		2E-6	(SI+M)	0.12	[-0.0172-0.2572] unit decrease	Illumina [693128]	N
870	chr2	37467263	37467264	rs2041840	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	2p22.2	PRKD3, QPCT	rs2041840-C	0.62	9E-6		1.2	[NR]	Illumina [450000] (imputed)	N
871	chr2	37576135	37576136	rs3770752	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p22.2	NR	rs3770752-A	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
871	chr2	37592627	37592628	rs2373000	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	2p22.2	C2orf56, CEBPZ, PRKD3, SULT6B1, QPCT	rs2373000-T	0.402	7E-9		1.087	[1.06-1.11]	Affymetrix, Illumina [9871789]	N
872	chr2	37731664	37731665	rs960902	22569225	Krintel SB	2012-05-06	Pharmacogenet Genomics	Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis.	Response to TNF-alpha inhibitors in rheumatoid arthritis	196 European ancestry cases	NA	2p22.2	QPCT	rs960902-?	NR	8E-6	(Relative change in DAS28)			Illumina [486450]	N
873	chr2	37750979	37750980	rs4352210	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	2p22.2	intergenic	rs4352210-A	0.37	2E-6		0.14	[0.08-0.20] unit decrease	Illumina [~ 318327]	N
874	chr2	37940541	37940542	rs4670766	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	2p22.2	CDC42EP3	rs4670766-?	NR	2E-6		0.005	[NR] unit decrease	Illumina [478011]	N
874	chr2	37957479	37957480	rs13012266	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	2p22.2	intergenic	rs13012266-C		7E-6		0.2833	unit increase	Illumina [5767231] (imputed)	N
874	chr2	37960612	37960613	rs17511102	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	2p22.2	CDC42EP3	rs17511102-T	0.09	2E-8		1.4	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
874	chr2	37960612	37960613	rs17511102	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2p22.2	CDC42EP3	rs17511102-A	0.91	2E-18		0.06	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
874	chr2	37977016	37977017	rs604381	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	2p22.2	intergenic	rs604381-A	0.32	8E-6	(int, MW)	1.26	[NR] unit increase	Perlegen [429901]	N
875	chr2	38044343	38044344	rs4670779	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (spine)	6,865 European ancestry individuals	8,510 European ancestry individuals	2p22.2	LOC344382	rs4670779-T	0.32	4E-6		0.07	[0.04-0.10] s.d. decrease	Illumina [305051]	N
877	chr2	38276548	38276549	rs6750047	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	2p22.2	CYP1B1, RMDN2	rs6750047-A	0.43	7E-9		0.092	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
877	chr2	38277831	38277832	rs6741148	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	2p22.2	FAM82A1	rs6741148-?	0.33	4E-6		5.2	[NR]	Affymetrix [512497]	N
881	chr2	38916969	38916970	rs6741892	21339755	Liu X	2011-02-22	Mol Psychiatry	A non-synonymous polymorphism in galactose mutarotase (GALM) is associated with serotonin transporter binding potential in the human thalamus: results of a genome-wide association study.	5-HTT brain serotonin transporter levels	16 European, African American and Hispanic unmedicated bipolar disorder cases, 17 European, African American and Hispanic unmedicated major depressive disorder cases, 22 controls	51 European ancestry individuals	2p22.1	GALM	rs6741892-?	NR	5E-6	(thalamus)			Illumina [93247]	N
883	chr2	39101208	39101209	rs12479213	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p22.1	DHX57	rs12479213-A	0.281	9E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
883	chr2	39109557	39109558	rs3099950	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	2p22.1	NR	rs3099950-?	NR	8E-6	(survival)			Illumina [288357]	N
884	chr2	39216872	39216873	rs963731	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 3,111 controls	67 cases, 457 controls	2p22.1	SOS1	rs963731-?	NR	2E-7		2.41	[NR]	Illumina [533898] (imputed)	N
884	chr2	39216872	39216873	rs963731	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 1,986 controls	NA	2p22.1	SOS1	rs963731-?	NR	3E-6		2.42	[1.65-3.53]	Illumina [533898] (imputed)	N
888	chr2	39843196	39843197	rs7587205	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy)	394 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	2p22.1	AC007246.3	rs7587205-T	NR	4E-6	(AA)			Affymetrix [~ 2300000] (imputed)	N
889	chr2	39939535	39939536	rs17024218	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p22.1	LOC728730, TMEM178	rs17024218-G	0.014	2E-6	(Total T3 )	0.03	[NR] ng/dL increase	Illumina [899892]	N
889	chr2	39947720	39947721	rs2716734	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	2p22.1	TMEM178	rs2716734-?	0.14	2E-6		5.97	[NR]	Affymetrix [512497]	N
889	chr2	39959059	39959060	rs2540226	18957941	Terracciano A	2008-11-24	Mol Psychiatry	Genome-wide association scan for five major dimensions of personality.	Personality dimensions	3,972 Sardinian individuals	3,903 individuals	2p22.1	THUMPD2	rs2540226-T	0.53	3E-6	(agreeableness)	0.13	[NR] s.d. increase	Affymetrix [362129]	N
891	chr2	40115695	40115696	rs6721181	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	2p22.1	intergenic	rs6721181-?	NR	6E-7				Affymetrix [786195]	N
891	chr2	40181516	40181517	rs75847378	24770881	Nelson PT	2014-04-27	Acta Neuropathol	ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.	Alzheimer's disease	1443 cases and 99 controls	NA	2p22.1	SLC8A1-AS1	rs75847378-?	NR	7E-7				NR [4913579] (imputed)	N
892	chr2	40353276	40353277	rs6544311	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	2p22.1	SLC8A1	rs6544311-A	0.376	2E-10		0.65	[0.45-0.85] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
893	chr2	40396077	40396078	rs404005	22628157	Levine AJ	2012-05-24	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults.	HIV-associated dementia	1,287 European ancestry HIV-infected male individuals	NA	2p22.1	SLC8A1	rs404005-T	NR	3E-7	(SPEED)			Illumina [~ 2500000] (imputed)	N
893	chr2	40484944	40484945	rs3749056	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	2p22.1	NR	rs3749056-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
894	chr2	40578558	40578559	rs17025867	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	2p22.1	SLC8A1	rs17025867-A	0.02	2E-7		1.81	[1.45-2.27]	Affymetrix [~ 2000000] (imputed)	N
895	chr2	40662545	40662546	rs4629203	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p22.1	SLC8A1	rs4629203-G	0.429	3E-6	(Free T3 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
895	chr2	40748004	40748005	rs4952632	25055868	Sano M	2014-07-23	Hum Mol Genet	Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.	Electrocardiographic traits	2,994 Japnese ancestry individuals	6,805 Korean ancestry individuals	2p22.1	LOC400950, SLC8A1	rs4952632-C	0.389	6E-13	(PR)	2.325	[NR] unit increase	Illumina [~ 2500000]	N
895	chr2	40752981	40752982	rs12997023	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	2p22.1	SLC8A1	rs12997023-C	0.049	5E-14		1.69	[1.26-2.12] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
895	chr2	40757790	40757791	rs13017846	22726844	Kim JW	2012-06-20	Am J Hum Genet	A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval.	QT interval	6,805 Korean ancestry individuals	7,373 East Asian ancestry individuals	2p22.1	SLC8A1	rs13017846-G	0.42	8E-14		0.069	[0.038-0.100] unit decrease	Affymetrix [352228]	N
895	chr2	40760964	40760965	rs17026156	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	PR interval	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	2p22.1	SLC8A1	rs17026156-C	0.39	3E-14		2.08	[NR] unit increase	Affymetrix [2100000] (imputed)	N
898	chr2	41067985	41067986	rs7576600	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	2p22.1	NR	rs7576600-G	NR	3E-7	(phenotype 2)	5.26	[NR]	Illumina [> 8000000] (imputed)	N
899	chr2	41273630	41273631	rs17027130	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin)	59 Japanese ancestry cases, 155 Japanese ancestry controls	NA	2p22.1	LOC729984	rs17027130-C	0.387	3E-6	(Allelic model)	2.865	[1.844-4.452]	Illumina [733202]	N
900	chr2	41343220	41343221	rs2194437	25431337	Bouzigon E	2014-11-27	Clin Exp Allergy	A Common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults.	Fractional exhaled nitric oxide levels	610 European ancestry adult individuals, 601 Hutterite adult individuals	450 Talana adult individuals, 8,858 European ancestry children	2p22.1	SLC8A1, HNRNPA1P57	rs2194437-C	0.04	9E-7	(adults)	4.92	[NR] Z score decrease	Affymetrix, Illumina [247463] (imputed)	N
900	chr2	41383716	41383717	rs10469868	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	2p22.1	SLC8A1	rs10469868-?	NR	8E-6			[NR]	Illumina [283437]	N
901	chr2	41487070	41487071	rs4140752	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	2p22.1	LOC400950, SLC8A1	rs4140752-?		8E-7	(IL-6 response)			Illumina [NR]	N
905	chr2	42004996	42004997	rs719593	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	2p21	intergenic	rs719593-T	0.86	5E-6	(int, MC)	2.05	[NR] unit decrease	Perlegen [429901]	N
906	chr2	42080623	42080624	rs4305317	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	2p21	RPS12P4	rs4305317-?	NR	2E-6	(ACPA-negative RA vs controls)	1.45	[1.25-1.69]	Illumina [1723056] (imputed)	N
906	chr2	42080623	42080624	rs4305317	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	2p21	LDHAL3	rs4305317-?	NR	4E-8	(ACPA-positive RA vs ACPA-negative RA)			Illumina [1723056] (imputed)	N
907	chr2	42250548	42250549	rs7584262	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	2p21	PKDCC	rs7584262-T	0.23	1E-9	(FNBMD)	0.04	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
907	chr2	42276920	42276921	rs4952590	19961619	Castro-Giner F	2009-12-06	BMC Med Genet	A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).	Atopy	75 European ancestry atopy and asthma cases, 75 European ancestry atopy only cases, 75 European ancestry controls	429 European ancestry atopy cases, 222 European ancestry controls	2p21	SGK493	rs4952590-?	0.86	2E-6		1.92	[1.27-2.86]	Illumina [NR]	N
907	chr2	42287305	42287306	rs988958	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	2p21	PKDCC	rs988958-G	0.750	2E-10		1.3	[NR]	Illumina [8207076] (imputed)	N
910	chr2	42708404	42708405	rs1979755	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p21	KCNG3	rs1979755-C	0.549	4E-7		0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
910	chr2	42708404	42708405	rs1979755	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p21	KCNG3	rs1979755-C	0.547	8E-7	(EA)	0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
912	chr2	42981238	42981239	rs930421	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	2p21	OXER1	rs930421-?	NR	6E-6	(binary)			Perlegen [429981]	N
912	chr2	42985802	42985803	rs6719977	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	2p21	OXER1	rs6719977-?	NR	2E-6	(binary)			Perlegen [429981]	N
913	chr2	43015718	43015719	rs3816183	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	2p21	HAAO	rs3816183-T	0.246	4E-34		1.58	[NR]	Illumina [8207076] (imputed)	N
914	chr2	43141484	43141485	rs11679640	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	2p21	HAAO	rs11679640-C	0.8	4E-8	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
914	chr2	43141484	43141485	rs11679640	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	2p21	HAAO	rs11679640-C	0.8	2E-6				Affymetrix, Illumina [14227402] (imputed)	N
915	chr2	43325569	43325570	rs6718520	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	2p21	THADA	rs6718520-A	0.48	3E-8		1.17	[NR]	Affymetrix, Illumina [2529394]	N
915	chr2	43359060	43359061	rs12466022	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	2p21	intergenic	rs12466022-C	NR	6E-10		1.11	[1.1-1.13]	Illumina [465434]	N
915	chr2	43371541	43371542	rs1978648	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2p21	HAAO, ZFP36L2, THADA	rs1978648?		5E-7	(SI)	0.2	[0.082-0.318] unit increase	Illumina [693128]	N
917	chr2	43540124	43540125	rs7590268	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	2p21	THADA	rs7590268-G	NR	1E-8	(Meta-All, NSCL/P)	1.415	[1.225-1.636]	NR [497084]	N
917	chr2	43540124	43540125	rs7590268	20023658	Mangold E	2009-12-20	Nat Genet	Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.	Orofacial clefts	399 European ancestry cases, 1,318 European ancestry controls	655 European ancestry triads	2p21	THADA	rs7590268-G	0.22	9E-8		1.42	[1.26-1.59]	Illumina [521288]	N
917	chr2	43553948	43553949	rs1465618	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	2p21	THADA	rs1465618-?	0.23	2E-8		1.08	[1.03-1.12]	Illumina [541129]	N
917	chr2	43587503	43587504	rs6732426	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	2p21	THADA	rs6732426-T	NR	1E-7				Illumina [~ 1000000] (imputed)	N
917	chr2	43632475	43632476	rs17406451	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	2p21	THADA	rs17406451-?	NR	4E-6	(Males)		[NR]	Illumina [283437]	N
917	chr2	43638837	43638838	rs13429458	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	2p21	THADA	rs13429458-?	NR	6E-6	(SF4)			Affymetrix [5476100] (imputed)	N
917	chr2	43638837	43638838	rs13429458	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	2p21	NR	rs13429458-A	NR	4E-13		1.49	[NR]	Affymetrix [NR] (imputed)	N
917	chr2	43638837	43638838	rs13429458	21151128	Chen ZJ	2010-12-12	Nat Genet	Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.	Polycystic ovary syndrome	744 Han Chinese ancestry cases, 895 Han Chinese ancestry controls	3,338 Han Chinese ancestry cases, 5,792 Han Chinese ancestry controls	2p21	ZFP36L2, LOC100129726, THADA	rs13429458-A	0.91	2E-23		1.49	[1.39-1.61]	Affymetrix [611633]	N
918	chr2	43687878	43687879	rs17030845	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	2p21	THADA	rs17030845-C	NR	1E-10		3.577	[2.49-4.67] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
918	chr2	43721507	43721508	rs12478601	21151128	Chen ZJ	2010-12-12	Nat Genet	Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.	Polycystic ovary syndrome	744 Han Chinese ancestry cases, 895 Han Chinese ancestry controls	3,338 Han Chinese ancestry cases, 5,792 Han Chinese ancestry controls	2p21	ZFP36L2, LOC100129726, THADA	rs12478601-C	0.71	3E-23		1.39	[1.30-1.49]	Affymetrix [611633]	N
918	chr2	43732822	43732823	rs7578597	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	2p21	THADA	rs7578597-T	0.90	1E-9		1.15	[1.10-1.20]	Affymetrix, Illumina [2202892] (imputed)	N
919	chr2	43806917	43806918	rs10495903	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p21	NR	rs10495903-A	0.1316	3E-13	(EA)	1.1337671	[1.1-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
919	chr2	43806917	43806918	rs10495903	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2p21	intergenic	rs10495903-T	0.13	8E-12		1.086	[1.041-1.131]	Affymetrix, Illumina [1230000] (imputed)	N
919	chr2	43806917	43806918	rs10495903	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	2p21	THADA	rs10495903-T	0.129	2E-14		1.14	[1.09-1.20]	Affymetrix, Illumina [953241] (imputed)	N
919	chr2	43809346	43809347	rs78487399	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p21	NR	rs78487399-?	NR	8E-16	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
919	chr2	43817504	43817505	rs11897432	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	2p21	THADA	rs11897432-A	0.22	8E-7	(H19-ICR)			Illumina [515966]	N
921	chr2	44065089	44065090	rs6756629	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	2p21	ABCG5	rs6756629-G	0.92	3E-10		0.16	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
921	chr2	44065089	44065090	rs6756629	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	2p21	ABCG5	rs6756629-G	0.92	2E-11		0.15	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
921	chr2	44066246	44066247	rs11887534	17632509	Buch S	2007-07-15	Nat Genet	A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.	Gallstones	280 European ancestry cases, 360 European ancestry controls	1,833 European ancestry cases, 1,035 European ancestry controls, 167 Hispanic cases, 167 Hispanic controls	2p21	ABCG8	rs11887534-C	0.10	1E-14		2.2	[1.80-2.60]	Affymetrix [382492]	N
921	chr2	44072575	44072576	rs4299376	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2p21	ABCG5, ABCG58	rs4299376-G	0.31	4E-72		0.081	[NR] unit increase	NR [NR] (imputed)	N
921	chr2	44072575	44072576	rs4299376	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	2p21	ABCG8, ABCG5	rs4299376-G	0.31	3E-73		0.079	[NR] unit increase	NR [NR] (imputed)	N
921	chr2	44072575	44072576	rs4299376	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	2p21	ABCG8, ABCG5	rs4299376-G	0.3	2E-47		2.75	[2.36-3.14] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
921	chr2	44072575	44072576	rs4299376	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	2p21	ABCG8, ABCG5	rs4299376-G	0.3	4E-45		3.01	[2.58-3.44] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
921	chr2	44072575	44072576	rs4299376	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	2p21	ABCG8, ABCG5	rs4299376-?	NR	2E-8	(LDL-C.assay, fasting)	2.595	[NR] unit increase	Illumina [335603]	N
921	chr2	44073655	44073656	rs41360247	20529992	Teupser D	2010-06-07	Circ Cardiovasc Genet	Genetic regulation of serum phytosterol levels and risk of coronary artery disease.	Phytosterol levels	1,495 European ancestry individuals	2,917 European ancestry individuals	2p21	ABCG8	rs41360247-C	0.064	6E-25	(campesterol)	14.0	[NR] % decrease	Affymetrix [374370]	N
921	chr2	44073880	44073881	rs6544713	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	2p21	ABCG8	rs6544713-T	0.32	2E-20		0.15	[0.11-0.19] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
921	chr2	44074430	44074431	rs4245791	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	LDL cholesterol	7,861 African American individuals, 3,425 Hispanic individuals	7,138 African American individuals	2p21	ABCG8	rs4245791-G	0.143	1E-9	(AA)	5.97	[NR] unit increase	Affymetrix [NR]	N
921	chr2	44074430	44074431	rs4245791	20529992	Teupser D	2010-06-07	Circ Cardiovasc Genet	Genetic regulation of serum phytosterol levels and risk of coronary artery disease.	Phytosterol levels	1,495 European ancestry individuals	2,917 European ancestry individuals	2p21	ABCG8	rs4245791-C	0.322	2E-50	(campesterol)	12.0	[NR] % increase	Affymetrix [374370]	N
921	chr2	44075482	44075483	rs76866386	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	2p21	ABCG8	rs76866386-T	0.93	6E-33		0.139	[0.12-0.16] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
921	chr2	44079309	44079310	rs72875462	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	2p21	ABCG8	rs72875462-C	0.93	2E-35		0.148	[0.12-0.17] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
921	chr2	44135313	44135314	rs13387221	23358156	Benyamin B	2013-01-29	Mol Psychiatry	Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.	Intelligence (childhood)	12,441 European ancestry children	5,548 European ancestry children	2p21	NR	rs13387221-A	0.187	9E-6		0.064	[0.035-0.093] unit increase	Affymetrix, Illumina [138093] (imputed)	N
924	chr2	44480949	44480950	rs4953076	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	2p21	PPM1B	rs4953076-G	0.25	4E-9		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
925	chr2	44662474	44662475	rs13414205	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted TNF-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	2p21	CAMKMT	rs13414205-A		7E-8	(AA)			Illumina [NR]	N
926	chr2	44705614	44705615	rs698813	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)	57 Japanese ancestry cases, 63 Japanese ancestry controls	NA	2p21	C2orf34	rs698813-C	0.52	1E-6	(Allelic)	4.27	[2.35-7.76]	Illumina [555600]	N
926	chr2	44768201	44768202	rs2341459	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2p21	C2orf34	rs2341459-T	0.27	8E-10		0.025	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
926	chr2	44774201	44774202	rs897080	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p21	C2orf34	rs897080-T	0.743	2E-16		0.028	[0.022-0.034] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
928	chr2	45060476	45060477	rs114059891	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2p21	NR	rs114059891-?	NR	2E-6		0.52	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
929	chr2	45154907	45154908	rs528301	22488850	Zuo L	2012-04-04	Am J Med Genet B Neuropsychiatr Genet	Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls, 449 African American cases, 480 African American controls	NA	2p21	SIX3	rs528301-?	NR	5E-6				Illumina [805814]	N
929	chr2	45188352	45188353	rs895636	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	2p21	SIX2, SIX3	rs895636-?	NR	3E-13		0.069	[0.049-0.089] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
929	chr2	45188352	45188353	rs895636	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	2p21	SIX2, SIX3	rs895636-A	0.38	1E-12	(FPG)	0.0393	[0.029-0.050] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
931	chr2	45408268	45408269	rs6720296	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	2p21	LINC01121	rs6720296-?		5E-7	(disease-free survival)	1.74	[1.40-2.16]	Illumina [729737]	N
931	chr2	45408268	45408269	rs6720296	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	2p21	LINC01121	rs6720296-?		3E-6	(overall survival)	1.74	[1.38-2.19]	Illumina [729737]	N
931	chr2	45456389	45456390	rs885553	25781172	Avramopoulos D	2015-03-17	PLoS One	Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.	Bipolar disorder (inflammation and infection response interaction)	397 Ashkenazi Jewish bipolar disorder cases, 241  Ashkenazi Jewish controls	NA	2p21	LINC01121, SRBD1	rs885553-?		8E-7	(anti-HSV1)			Affymetrix [516638]	N
933	chr2	45646823	45646824	rs3213787	20363506	Meguro A	2010-04-02	Ophthalmology	Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility.	Glaucoma	305 Japanese ancestry cases, 355 Japanese ancestry controls	NA	2p21	SRBD1	rs3213787-A	0.81	3E-9		2.8	[1.96-3.99]	Affymetrix [325947]	N
934	chr2	45748276	45748277	rs34669198	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	2p21	SRBD1	rs34669198-?	NR	1E-6		0.3	[0.18-0.42] unit increase	Illumina [1075436] (imputed)	N
935	chr2	45999987	45999988	rs12622534	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2p21	PRKCE, SRBD1, EPAS1	rs12622534-A	0.407	2E-6		2.26	[1.6-3.19]	Illumina [1556551]	N
937	chr2	46176961	46176962	rs6751349	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	2p21	NR	rs6751349-A	0.36	8E-6		1.22	[0.69-1.75] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
937	chr2	46205038	46205039	rs13396424	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	2p21	PRKCE	rs13396424-G		8E-6		0.08	[0.04-0.11] unit increase	Affymetrix [~ 2500000] (imputed)	N
938	chr2	46321093	46321094	rs12373805	21041247	Perlis RH	2010-11-01	Am J Psychiatry	Genome-wide association study of suicide attempts in mood disorder patients.	Suicide risk	3,117 European ancestry Bipolar disorder cases, 1,273 European ancestry Major depressive disorder cases	2,698 European ancestry Bipolar disorder cases, 1,649 Major depressive disorder cases	2p21	intergenic	rs12373805-A	NR	9E-6		1.2169		Affymetrix [1922309] (imputed)	N
938	chr2	46332168	46332169	rs12712969	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	2p21	intergenic	rs12712969-?	NR	7E-6	(FEV1/FVC decline in non-asthmatics)	0.1472	[0.083-0.211] unit decrease	Illumina [~ 2500000] (imputed)	N
938	chr2	46353165	46353166	rs10495928	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Red blood cell count	14,392 Japanese ancestry individuals	NA	2p21	PRKCE	rs10495928-G	0.17	4E-8		0.087	[0.056-0.118] unit decrease	Illumina [561583]	N
938	chr2	46353165	46353166	rs10495928	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	2p21	PRKCE	rs10495928-A	0.83	5E-6	(Hb)	0.032	[0.018-0.046] unit increase	Illumina [561583]	N
938	chr2	46353165	46353166	rs10495928	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	2p21	PRKCE	rs10495928-G	NR	7E-13		0.06	[0.05-0.08] g/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
938	chr2	46355050	46355051	rs4953318	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	2p21	PRKCE	rs4953318-A	0.62	3E-19	(EA, PCV)	0.152	[0.12-0.19] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
938	chr2	46355847	46355848	rs13008603	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	2p21	PRKCE	rs13008603-A	0.163	4E-9	(Ht, AA)	0.277	[0.18-0.37] % decrease	Affymetrix, Illumina [NR]	N
938	chr2	46360906	46360907	rs10168349	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	2p21	PRKCE	rs10168349-G	0.83	5E-7	(Ht)	0.317	[0.193-0.44] unit increase	Illumina [561583]	N
938	chr2	46360906	46360907	rs10168349	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hematocrit	24,167 European ancestry individuals	9,456 European ancestry individuals	2p21	PRKCE	rs10168349-C	NR	4E-15		0.19	[0.14-0.23] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
939	chr2	46411206	46411207	rs281508	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	2p21	PRKCE	rs281508-?	NR	1E-6	(Recessive model)	0.77	unit increase	Illumina [542562]	N
940	chr2	46537603	46537604	rs7579899	21131975	Purdue MP	2010-12-05	Nat Genet	Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.	Renal cell carcinoma	3,772 European ancestry cases, 8,505 European ancestry controls	2,198 European ancestry cases, 4,918 European ancestry controls	2p21	EPAS1	rs7579899-?	0.40	2E-9		1.15	[1.10-1.21]	Illumina [586069]	N
940	chr2	46550768	46550769	rs7582701	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p21	NR	rs7582701-C	0.037394344593387	4E-6	(IGP74)	0.4338	[0.25-0.62] unit decrease	Illumina [~ 2500000] (imputed)	N
940	chr2	46550768	46550769	rs7582701	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p21	NR	rs7582701-C	0.0373370440481498	1E-6	(IGP69)	0.4547	[0.27-0.64] unit decrease	Illumina [~ 2500000] (imputed)	N
940	chr2	46550768	46550769	rs7582701	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p21	NR	rs7582701-C	0.0373185578689255	2E-6	(IGP75)	0.4488	[0.27-0.63] unit decrease	Illumina [~ 2500000] (imputed)	N
940	chr2	46550768	46550769	rs7582701	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p21	NR	rs7582701-C	0.0372783807743658	4E-6	(IGP76)	0.4309	[0.25-0.61] unit increase	Illumina [~ 2500000] (imputed)	N
940	chr2	46552600	46552601	rs4953345	25826619	Henrion MY	2015-03-31	PLoS One	Common Variation at 1q24.1 (ALDH9A1) Is a Potential Risk Factor for Renal Cancer.	Renal cell carcinoma	2,215 Western European ancestry cases, 8,566 Western European ancestry controls	2,844 European ancestry cases, 7,270 European ancestry controls	2p21	EPAS1	rs4953345-A	NR	5E-10	(Western European)	1.25	[1.17-1.33]	Illumina [up to 12182133] (imputed)	N
940	chr2	46634644	46634645	rs12623288	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	2p21	AC016912.4	rs12623288-A	NR	3E-6				Illumina [~ 1000000] (imputed)	N
940	chr2	46642248	46642249	rs2346177	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	2p21	intergenic	rs2346177-A	0.49	2E-6		0.0728	[0.043-0.102] unit increase	Affymetrix [~ 2740000] (imputed)	N
942	chr2	46826025	46826026	rs17818399	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Height	1,792 Filipino ancestry females	NA	2p21	PIGF, CRIPT	rs17818399-C	0.17	3E-7		1.13	[0.70-1.56] cm increase	Affymetrix [2073674] (imputed)	N
942	chr2	46886141	46886142	rs4953404	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Pulse pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	2p21	CRIPT, SOCS5	rs4953404-G	0.72	8E-7	(Days drinks/week)	0.006	[-0.01164-0.02364] unit increase	Affymetrix [2500000] (imputed)	N
942	chr2	46886141	46886142	rs4953404	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Pulse pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	2p21	CRIPT, SOCS5	rs4953404-G	0.72	1E-6	(Oz alcohol/week)	0.001	[-0.01076-0.01276] unit increase	Affymetrix [2500000] (imputed)	N
942	chr2	46921284	46921285	rs12474201	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2p21	SOCS5	rs12474201-A	0.35	3E-13		0.028	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
943	chr2	47016469	47016470	rs12615264	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Current cigarettes per day in chronic obstructive pulmonary disease	1,113 European ancestry cases	NA	2p21	SOCS5	rs12615264-T	0.03	3E-6		0.644	unit increase	Illumina [~ 6300000] (imputed)	N
943	chr2	47022542	47022543	rs76351433	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Current cigarettes per day in chronic obstructive pulmonary disease	1,113 European ancestry cases	NA	2p21	SOCS5	rs76351433-C	0.04	2E-7		0.692	unit increase	Illumina [~ 6300000] (imputed)	N
944	chr2	47107331	47107332	rs7560018	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	2p21	NR	rs7560018-A	NR	6E-6	(phenotype 2)	1.71	[NR]	Illumina [> 8000000] (imputed)	N
945	chr2	47229838	47229839	rs17540621	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	2p21	TTC7A, MCFD2, FLJ40172	rs17540621-C	0.06	2E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
945	chr2	47236435	47236436	rs61571577	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p21	NR	rs61571577-?	NR	5E-7	(Latino)	1.1768	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
945	chr2	47240011	47240012	rs10194115	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	2p21	TTC7A	rs10194115-?	0.07	5E-7		9.0	[NR]	Affymetrix [512497]	N
946	chr2	47399063	47399064	rs815815	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	2p21	CALM2	rs815815-?	0.19	7E-7		1.51	[1.28-1.77]	Affymetrix [832357]	N
947	chr2	47481640	47481641	rs10190105	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	2p21	NR	rs10190105-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
948	chr2	47679977	47679978	rs10514805	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	2p21	MSH2	rs10514805-?	NR	7E-6	(Alpha power, Cz)	0.172	[0.098-0.246] unit increase	Illumina [527829]	N
950	chr2	47844504	47844505	rs6544997	19890347	Birlea SA	2009-11-05	J Invest Dermatol	Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.	Vitiligo	32 Romanian founder cases, 44 European ancestry controls	NA	2p16.3	KCNK12	rs6544997-?	0.47	7E-6				Illumina [297342]	N
950	chr2	47885475	47885476	rs2969775	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis in Alzheimer's disease	1,039 European ancestry cases with psychosis, 610 European ancestry cases without psychosis, 260 European, African American and Native American ancestry cases with psychosis and 125 European, African American and Native American ancestry cases without psychosis from 264 families	NA	2p16.3	AC079250.1	rs2969775-?	0.63	2E-6		1.4705882	[NR]	Illumina [1882172] (imputed)	N
951	chr2	48047334	48047335	rs4381823	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	2p16.3	FBXO11	rs4381823-?	0.93	6E-6	(EA)	1.43	[NR]	NR [1085772] (imputed)	N
952	chr2	48169381	48169382	rs34198350	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	2p16.3	NR	rs34198350-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
952	chr2	48220335	48220336	rs17396122	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p16.3	NR	rs17396122-G	NR	10E-7		1.0869565	[NR]	Illumina [7158791] (imputed)	N
956	chr2	48646398	48646399	rs10454142	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	2p16.3	LHCGR	rs10454142-T	0.69	1E-7	(Men + Women)	0.023	[0.014-0.032] umol/L increase	Affymetrix, Illumina [2543887] (imputed)	N
956	chr2	48649704	48649705	rs7565792	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	2p16.3	NR	rs7565792-C	NR	7E-6	(5 degree of freedom test)	1.03	[1.00-1.06]	NR [1252901] (imputed)	N
957	chr2	48824500	48824501	rs3749146	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2p16.3	STON1	rs3749146-?		3E-6				Illumina [859311]	N
958	chr2	48978158	48978159	rs13405728	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	2p16.3	LHCGR	rs13405728-A	NR	4E-9		1.35	[NR]	Affymetrix [NR] (imputed)	N
958	chr2	48978158	48978159	rs13405728	21151128	Chen ZJ	2010-12-12	Nat Genet	Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.	Polycystic ovary syndrome	744 Han Chinese ancestry cases, 895 Han Chinese ancestry controls	3,338 Han Chinese ancestry cases, 5,792 Han Chinese ancestry controls	2p16.3	FSHR, GTF2A1L, LHCGR	rs13405728-A	0.76	8E-21		1.41	[1.30-1.49]	Affymetrix [611633]	N
960	chr2	49177600	49177601	rs7591064	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	2p16.3	FSHR	rs7591064-?	0.11	5E-6				Affymetrix, Illumina [1348798]	N
960	chr2	49201327	49201328	rs2268363	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	2p16.3	FSHR	rs2268363-?	0.18	5E-8		7.03	[NR]	Affymetrix [512497]	N
960	chr2	49201611	49201612	rs2268361	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	2p16.3	FSHR	rs2268361-C	0.504	1E-12		1.15	[NR]	Affymetrix [NR] (imputed)	N
962	chr2	49491809	49491810	rs10495970	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	2p16.3	FSHR	rs10495970-?		5E-7	(AA)	10.3	[NR]	Illumina [936149]	N
962	chr2	49498005	49498006	rs9636436	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	2p16.3	intergenic	rs9636436-?		2E-7	(AA)	11.1	[NR]	Illumina [936149]	N
963	chr2	49641555	49641556	rs17835319	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	2p16.3	FSHR	rs17835319-A	0.12	2E-6		0.74	[0.47-1.01] unit increase	Illumina [NR] (imputed)	N
964	chr2	49715020	49715021	rs12987465	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide)	54 Japanese ancestry cases, 39 Japanese ancestry controls	NA	2p16.3	FSHR	rs12987465-A	0.359	7E-6	(Recessive model)	2.597	[1.424-4.737]	Illumina [733202]	N
966	chr2	49955496	49955497	rs17039212	19165918	Graham RR	2008-08-01	Nat Genet	Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.	Systemic lupus erythematosus	431 European ancestry cases, 2,155 European ancestry controls	447 European ancestry trios, 293 trios	2p16.3	intergenic	rs17039212-?	0.10	9E-6			[NR]	Affymetrix [313238]	N
966	chr2	50047482	50047483	rs1401327	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	2p16.3	NRXN1	rs1401327-A	0.113	4E-8	(EA, 25 years or older)	1.157	[1.098-1.218]	Affymetrix, Illumina [NR] (imputed)	N
966	chr2	50047482	50047483	rs1401327	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	2p16.3	NRXN1	rs1401327-A	0.113	3E-7		1.139	[1.084-1.198]	Affymetrix, Illumina [NR] (imputed)	N
967	chr2	50184393	50184394	rs11681792	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	2p16.3	NR	rs11681792-A	0.179	4E-7	(Non-substance related behavioral disinhibition)			Illumina [527829]	N
970	chr2	50516017	50516018	rs1356888	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	2p16.3	NRXN1	rs1356888-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
972	chr2	50731317	50731318	rs6754640	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	2p16.3	NRXN1	rs6754640-A	0.452	1E-6	(Novelty seeking)	0.15	unit decrease	Affymetrix, Illumina [1252222] (imputed)	N
972	chr2	50744773	50744774	rs10176705	20691247	Verweij KJ	2010-08-04	Biol Psychol	A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.	Personality dimensions	5,117 European ancestry individuals from 2567 families	NA	2p16.3	NRXN1	rs10176705-T	0.37	9E-6	(Novelty Seeking)	0.1	[NR] unit increase	Affymetrix, Illumina [1252387] (imputed)	N
972	chr2	50748754	50748755	rs1014667	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p16.3	NR	rs1014667-?	NR	9E-8	(AA)	1.7115	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
972	chr2	50760502	50760503	rs6750634	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	2p16.3	NRXN1	rs6750634-A		4E-6		0.2936	unit decrease	Illumina [5767231] (imputed)	N
975	chr2	51136801	51136802	rs2193412	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	2p16.3	NRXN1	rs2193412-?	NR	4E-6	(Recessive model)	0.6	unit increase	Illumina [542562]	N
979	chr2	51667738	51667739	rs1206397	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	2p16.3	AC007402.3	rs1206397-?	0.0476	3E-7	(PAL6)			Illumina [475971]	N
979	chr2	51736993	51736994	rs1406428	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	2p16.3	intergenic	rs1406428-?	0.28	2E-7	(CSJC , RF+)	2.74	[NR] unit increase	Illumina [534053]	N
980	chr2	51873598	51873599	rs1606974	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2p16.3	NRXN1	rs1606974-A	0.124	5E-6		0.031	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
983	chr2	52260751	52260752	rs10203140	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	2p16.3	NR	rs10203140-?	NR	7E-6		16.64	[9.68-23.6] unit decrease	Illumina [498648]	N
985	chr2	52511793	52511794	rs17042688	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	2p16.3	NR	rs17042688-?	0.038	1E-6		1.911	[1.474-2.476] unit increase	Illumina [563945]	N
986	chr2	52600066	52600067	rs17042852	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	2p16.3	LOC730100	rs17042852-C	0.04	2E-7		2.82	[1.91-4.18]	Illumina [2292247] (imputed)	N
987	chr2	52703589	52703590	rs12619788	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	2p16.3	intergenic	rs12619788-G	NR	8E-6		0.112	[0.063-0.161] unit increase	Illumina [628922]	N
987	chr2	52706051	52706052	rs6545278	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	2p16.3	AC139712.2	rs6545278-?		8E-7	(EA, Inherited)	2.62	[1.76-3.90]	Illumina [2421290] (imputed)	N
987	chr2	52713806	52713807	rs1526687	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	2p16.3	LOC129656	rs1526687-T	NR	5E-6	(Continous Variable)	0.04	[0.02-0.06] ug/L increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
988	chr2	52949317	52949318	rs1349882	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	2p16.2	intergenic	rs1349882-T	0.395	5E-6		0.092	[0.053-0.131] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
989	chr2	52983772	52983773	rs350729	25562107	Israel E	2015-03-01	Am J Respir Crit Care Med	Genome-wide Association Study of Short Acting ss2-agonists: A Novel Genome Wide Significant Locus on Chromosome 2 Near ASB3.	Bronchodilator response in asthma	724 European ancestry individuals	439 European ancestry individuals	2p16.2	ASB3, SOCS, JUND, CEBPB	rs350729-?	NR	2E-10		2.26	[NR] unit decrease	Affymetrix [444088]	N
991	chr2	53237319	53237320	rs1160297	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	2p16.2	intergenic	rs1160297-?	0.43	1E-6	(Hgb)			Affymetrix [70897]	N
991	chr2	53266128	53266129	rs2357013	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	2p16.2	intergenic	rs2357013-?	0.45	6E-6	(Hgb)			Affymetrix [70897]	N
993	chr2	53502774	53502775	rs996712	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p16.2	ASB3	rs996712-G	0.34	8E-6	(Free T3 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
995	chr2	53756541	53756542	rs56148675	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	2p16.2	intergenic	rs56148675-T	0.942	5E-6		0.076	[0.043-0.109] unit decrease	Illumina [6150213] (imputed)	N
995	chr2	53782558	53782559	rs13407662	23041239	Traylor M	2012-10-05	Lancet Neurol	Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.	Stroke (ischemic)	12,389 European ancestry cases, 62,004 European ancestry controls	1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls	2p16.2	intergenic	rs13407662-T	0.04	5E-8	(SVD)	1.95	[1.53-2.48]	Affymetrix, Illumina [NR] (imputed)	N
999	chr2	54347749	54347750	rs1559040	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	2p16.2	ACYP2	rs1559040-?	0.11	4E-8	(Recessive)	1.54	[1.32-1.79]	Affymetrix [319222]	N
1000	chr2	54475865	54475866	rs11125529	23535734	Codd V	2013-04-01	Nat Genet	Identification of seven loci affecting mean telomere length and their association with disease.	Telomere length	37,684 European ancestry individuals	10,739 European ancestry individuals	2p16.2	ACYP2	rs11125529-C	0.858	8E-10		0.056	[0.036-0.076] unit decrease	Affymetrix, Illumina [2362330]	N
1002	chr2	54659706	54659707	rs4233949	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	2p16.2	SPTBN1	rs4233949-C	0.38	2E-18	(LSBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1002	chr2	54684556	54684557	rs11898505	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	730 East Asian ancestry individuals, 2,380 European ancestry individuals, 11,150 individuals	11,058 European ancestry individuals, 2,870 European and other ancestry individuals, 21,439 individuals	2p16.2	SPTBN1	rs11898505-G	0.64	4E-13	(BUA)	0.06	[0.05-0.08] unit decrease	Affymetrix, Illumina [up to 2609590] (imputed)	N
1002	chr2	54684556	54684557	rs11898505	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	2p16.2	SPTBN1	rs11898505-G	0.65	6E-6	(VOS)	0.05	[0.03-0.07] unit decrease	Affymetrix, Illumina [up to 2609590] (imputed)	N
1002	chr2	54684556	54684557	rs11898505	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	2p16.2	SPTBN1	rs11898505-A	0.34	2E-8		0.07	[0.05-0.09] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
1002	chr2	54684556	54684557	rs11898505	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (spine)	6,865 European ancestry individuals	8,510 European ancestry individuals	2p16.2	SPTBN1	rs11898505-G	0.68	4E-6		0.07	[0.04-0.10] s.d. decrease	Illumina [305051]	N
1002	chr2	54684556	54684557	rs11898505	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	2p16.2	SPTBN1	rs11898505-G	0.67	8E-7		0.08	[0.05-0.11] s.d. decrease	Illumina [301019]	N
1002	chr2	54718180	54718181	rs4557020	22685421	Fan Q	2012-06-07	PLoS Genet	Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.	Myopia (pathological)	2,789 Chinese ancestry individuals, 2,155 Malay ancestry individuals	NA	2p16.2	SPTBN1	rs4557020-T	0.37	3E-7		0.12	[0.081-0.159] mm decrease	Illumina [456634]	N
1004	chr2	54923765	54923766	rs354225	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p16.2	NR	rs354225-G	NR	3E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1005	chr2	55081375	55081376	rs12713280	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	2p16.1	intergenic	rs12713280-T	NR	6E-6	(Risk)	0.123	[0.070-0.176] unit increase	Illumina [628922]	N
1005	chr2	55144934	55144935	rs10496034	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	2p16.1	EML6	rs10496034-C	0.17	2E-6	(Asian, 25 years or older)	1.216	[1.122-1.318]	Affymetrix, Illumina [NR] (imputed)	N
1005	chr2	55156629	55156630	rs6726292	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	2p16.1	RTN4	rs6726292-G	0.73	1E-6		1.39	[1.22-1.59]	Illumina [457251]	N
1007	chr2	55418934	55418935	rs7588591	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	2p16.1	NR	rs7588591-?	NR	2E-6				NR [up to 8466825] (imputed)	N
1008	chr2	55516322	55516323	rs2589113	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	2p16.1	CCDC88A	rs2589113-T	0.48	2E-8		0.044	[0.028-0.060] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
1011	chr2	55843412	55843413	rs782590	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	2p16.1	SMEK2	rs782590-T	0.56	4E-8	(SBP)	0.09	[NR] mmHg increase	Illumina [1257079] (imputed)	N
1012	chr2	55973731	55973732	rs2163237	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p16.1	NR	rs2163237-C	0.671727695594125	5E-6	(IGP48)	0.1519	[0.087-0.217] unit decrease	Illumina [~ 2500000] (imputed)	N
1012	chr2	56008903	56008904	rs7577894	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	2p16.1	EFEMP1	rs7577894-T	0.39	1E-6	(site of onset)	1.41	[NR]	Illumina [288357]	N
1012	chr2	56025872	56025873	rs74760234	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p16.1	NR	rs74760234-?	NR	4E-7	(Latino)	1.2083	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1012	chr2	56067181	56067182	rs4146922	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2p16.1	PNPT1	rs4146922-A	0.82	1E-25		0.056	[0.042-0.07] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1012	chr2	56089539	56089540	rs1367226	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2p16.1	EFEMP1	rs1367226-?	NR	4E-8	(Conditioned on rs3791675)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1012	chr2	56096891	56096892	rs3791679	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p16.1	EFEMP1	rs3791679-A	0.766	2E-67		0.06	[0.052-0.068] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1012	chr2	56096891	56096892	rs3791679	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	2p16.1	EFEMP1	rs3791679-A	0.77	8E-16		1.22	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1012	chr2	56096891	56096892	rs3791679	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	2p16.1	EFEMP1	rs3791679-A	0.25	6E-9		0.07	[0.05-0.09] cm increase	Illumina [420885]	N
1012	chr2	56096891	56096892	rs3791679	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	2p16.1	EFEMP1, PNPT1	rs3791679-T	0.81	6E-11		5.8	[4.04-7.56] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1013	chr2	56108332	56108333	rs1346786	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	2p16.1	EFEMP1	rs1346786-T	0.31	8E-7	(EA)	0.015	[0.0091-0.0209] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1013	chr2	56108332	56108333	rs1346786	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	2p16.1	EFEMP1	rs1346786-T	0.31	4E-8		0.014	[0.0081-0.0199] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1013	chr2	56111308	56111309	rs3791675	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2p16.1	EFEMP1	rs3791675-T	0.77	1E-38		0.065	[0.051-0.079] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1013	chr2	56111308	56111309	rs3791675	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2p16.1	EFEMP1	rs3791675-T	0.23	3E-35		0.053	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1013	chr2	56111308	56111309	rs3791675	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Height	11,536 European ancestry individuals	NA	2p16.1	EFEMP1	rs3791675-C	0.77	3E-7		0.09	[0.04-0.14] SD increase	Illumina [559712] (imputed)	N
1013	chr2	56111308	56111309	rs3791675	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	2p16.1	EFEMP1	rs3791675-G	0.23	4E-6		0.45	[NR] cm increase	Affymetrix [334546]	N
1013	chr2	56111308	56111309	rs3791675	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Height	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	2p16.1	EFEMP1	rs3791675-G	0.22	2E-9		0.42	[0.28-0.56] cm increase	Affymetrix [2156535] (imputed)	N
1013	chr2	56111308	56111309	rs3791675	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	2p16.1	EFEMP1	rs3791675-C	0.77	2E-12		0.09	[0.05-0.12] s.d. increase (males)	Affymetrix [402951]	N
1013	chr2	56120852	56120853	rs1430193	24929828	Loth DW	2014-06-15	Nat Genet	Genome-wide association analysis identifies six new loci associated with forced vital capacity.	Forced vital capacity	52,253 European ancestry indiviudals	32,917 European ancestry individuals, 6,070 African American individuals, 849 Hispanic individuals, 8,637 East Asian ancestry individuals	2p16.1	EFEMP1	rs1430193-T	0.37	2E-12	(EA)	21.125	[15.25-27.00] ml decrease	Affymetrix, Illumina [2762059] (imputed)	N
1013	chr2	56135098	56135099	rs78857879	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	2p16.1	EFEMP1	rs78857879-A	0.1	3E-7	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1013	chr2	56135098	56135099	rs78857879	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	2p16.1	EFEMP1	rs78857879-A	0.1	2E-8				Affymetrix, Illumina [14227402] (imputed)	N
1013	chr2	56191469	56191470	rs2868985	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p16.1	NR	rs2868985-A	NR	3E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
1013	chr2	56195695	56195696	rs62164511	24929828	Loth DW	2014-06-15	Nat Genet	Genome-wide association analysis identifies six new loci associated with forced vital capacity.	Forced vital capacity	52,253 European ancestry indiviudals	32,917 European ancestry individuals, 6,070 African American individuals, 849 Hispanic individuals, 8,637 East Asian ancestry individuals	2p16.1	EFEMP1	rs62164511-A	0.902	2E-7	(AA)	84.664	[52.98-116.35] ml decrease	Affymetrix, Illumina [2762059] (imputed)	N
1015	chr2	56363376	56363377	rs6751715	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	2p16.1	intergenic	rs6751715-?	NR	1E-6	(progression)			Illumina [NR]	N
1016	chr2	56587748	56587749	rs6747380	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2p16.1	CCDC85A	rs6747380-A	0.17	6E-28		0.07	[0.056-0.084] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1016	chr2	56592082	56592083	rs17268785	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	2p16.1	CCDC85A	rs17268785-G	0.17	1E-10		3.2	[2.22-4.18] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1022	chr2	57404833	57404834	rs889956	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2p16.1	intergenic	rs889956-A	0.397	2E-7		0.023	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1027	chr2	57934054	57934055	rs13026414	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	2p16.1	intergenic	rs13026414-C	.576	2E-9	(All GGE)	1.23	[1.15-1.32]	Affymetrix [4560000] (imputed)	N
1027	chr2	57987592	57987593	rs11682175	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p16.1	NR	rs11682175-C	NR	1E-12		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1027	chr2	57987592	57987593	rs11682175	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	2p16.1	FANCL, VRK2	rs11682175-C	0.458	1E-11		1.0718113	[1.05-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
1027	chr2	58059802	58059803	rs2947349	25087078	Anney RJ	2014-07-30	Lancet Neurol	Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.	Epilepsy	405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls	NA	2p16.1	VRK2, FANCL	rs2947349-C	0.26	1E-8	(GGE)	1.23	[1.16-1.31]	Affymetrix, Illumina [NR] (imputed)	N
1028	chr2	58094872	58094873	rs2717068	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	2p16.1	intergenic	rs2717068-T	0.412	4E-7	(GAE)	1.27	[1.16-1.40]	Affymetrix [4560000] (imputed)	N
1028	chr2	58138191	58138192	rs75575209	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p16.1	NR	rs75575209-T	NR	1E-8		1.1111112	[NR]	Illumina [7158791] (imputed)	N
1029	chr2	58222927	58222928	rs2312147	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	2p16.1	VRK2	rs2312147-C	NR	3E-7		1.09	[NR]	Illumina [314868]	N
1031	chr2	58492344	58492345	rs9789483	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p16.1	NR	rs9789483-A	NR	1E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1033	chr2	58792376	58792377	rs929641	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p16.1	FLJ30838	rs929641-A	0.586	1E-7	(EA)	0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1033	chr2	58792376	58792377	rs929641	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p16.1	FLJ30838	rs929641-A	0.585	4E-7	(EA, women)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1033	chr2	58792376	58792377	rs929641	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p16.1	FLJ30838	rs929641-A	0.581	5E-8		0.016	[0.01-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1033	chr2	58833492	58833493	rs6731302	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	2p16.1	FANCL	rs6731302-A	0.44	2E-9	(Overweight)	1.04	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1034	chr2	58922920	58922921	rs35881094	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	2p16.1	FLJ30838	rs35881094-G	0.43	7E-6		1.16	[NR]	Illumina [7659573] (imputed)	N
1035	chr2	59036915	59036916	rs6719884	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	2p16.1	NR	rs6850606-A	0.48	3E-6		1.35	[1.19-1.53]	Illumina [274256]	N
1035	chr2	59036915	59036916	rs6719884	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	2p16.1	NR	rs6719884-A	0.40	3E-6		1.35	[1.19-1.52]	Illumina [274256]	N
1035	chr2	59072968	59072969	rs17552189	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	2p16.1	intergenic	rs17552189-?	NR	4E-6		1.4	[1.21-1.61]	Illumina [948142]	N
1036	chr2	59153053	59153054	rs78226650	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p16.1	NR	rs78226650-A	NR	8E-6		1.13	[NR]	Illumina [7158791] (imputed)	N
1036	chr2	59202028	59202029	rs111835151	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	2p16.1	NR	rs111835151-C	0.043	2E-6		0.288	[0.17-0.41] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1037	chr2	59282590	59282591	rs991964	21460842	Cha PC	2011-04-03	Nat Genet	A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.	Uterine fibroids	1,607 Japanese ancestry cases, 1,428 Japanese ancestry controls	3,439 Japanese ancestry cases, 3,244 Japanese ancestry controls	2p16.1	NR	rs991964-A	0.34	9E-6		1.15	[1.03-1.28]	Illumina [457044]	N
1037	chr2	59302876	59302877	rs887912	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	2p16.1	FANCL	rs887912-T	0.28	6E-9	(Obesity class II)	1.1	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1037	chr2	59302876	59302877	rs887912	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	2p16.1	FANCL	rs887912-T	0.28	1E-10	(Obesity class I)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1037	chr2	59302876	59302877	rs887912	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	2p16.1	FANCL	rs887912-T	0.29	2E-12		0.1	[0.06-0.14] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1037	chr2	59305624	59305625	rs1016287	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p16.1	FLJ30838	rs1016287-T	0.288	4E-6	(EA, men)	0.02	[0.012-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1037	chr2	59305624	59305625	rs1016287	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p16.1	FLJ30838	rs1016287-T	0.287	2E-11	(EA)	0.023	[0.016-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1037	chr2	59305624	59305625	rs1016287	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p16.1	FLJ30838	rs1016287-T	0.285	6E-9	(EA, women)	0.025	[0.017-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1037	chr2	59305624	59305625	rs1016287	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p16.1	FLJ30838	rs1016287-T	0.285	4E-12		0.023	[0.016-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1038	chr2	59499346	59499347	rs10490113	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Breast cancer	58 cases, 665 controls	NA	2p16.1	intergenic	rs10490113-?	NR	5E-6				Affymetrix [70897]	N
1039	chr2	59543375	59543376	rs181048070	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	2p16.1	LOC101927285	rs181048070-A	0.02	1E-6		2.0	[1.73-2.27]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
1041	chr2	59789704	59789705	rs10203166	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p16.1	NR	rs10203166-C	0.974135912544803	4E-6	(IGP5)	0.7988	[0.46-1.14] unit increase	Illumina [~ 2500000] (imputed)	N
1041	chr2	59881044	59881045	rs268067	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2p16.1	BCL11A	rs268067-A	0.8	3E-8		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1041	chr2	59890341	59890342	rs268073	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p16.1	FLJ30838	rs268073-C	0.201	5E-6	(EA, women)	0.027	[0.015-0.039] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1043	chr2	60111221	60111222	rs12991146	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	2p16.1	NR	rs12991146-?		9E-6		0.26	unit increase	Illumina [1211988] (imputed)	N
1043	chr2	60126310	60126311	rs145433814	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	2p16.1	intergenic	rs145433814-G	0.976	6E-6		0.239	[0.14-0.34] unit decrease	Illumina [6150213] (imputed)	N
1044	chr2	60281607	60281608	rs6712720	21493818	Shaw SY	2011-04-21	Circ Cardiovasc Genet	Genetic and clinical correlates of early-outgrowth colony-forming units.	Monocyte early outgrowth colony forming units	1,654 European ancestry individuals	NA	2p16.1	BCL11A	rs6712720-C	0.49	4E-6		0.16	[0.08-0.24] unit increase	Affymetrix [~ 2500000] (imputed)	N
1046	chr2	60459805	60459806	rs359268	23646285	Khor SS	2013-04-16	PeerJ	Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.	Hypersomnia (HLA-DQB1*06:02 negative)	125 Japanese ancestry cases, 562 Japanese ancestry controls		2p16.1	BCL11A	rs359268-C	0.431	1E-6	(recessive)	2.81	[1.84-4.30]	Affymetrix [508366] (imputed)	N
1046	chr2	60500143	60500144	rs10202231	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	2p16.1	intergenic	rs10202231-?	0.457	7E-7	(perphenazine-triglycerides)			Affymetrix [492900]	N
1046	chr2	60514992	60514993	rs4671386	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	2p16.1	AL833181, BCL11A, JB153659, PAPOLG, MIR4432, Mir_562	rs4671386-C	0.4251	2E-6		1.19	[1.11-1.3]	Illumina [7300000] (imputed)	N
1046	chr2	60534198	60534199	rs6545803	21810746	Chantarangsu S	2011-08-01	Clin Infect Dis	Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.	Nevirapine-induced rash	72 Thai ancestry nevirapine-induced rash HIV cases, 77 Thai ancestry nevirapine-tolerant rash HIV cases	88 Thai ancestry nevirapine-induced rash HIV cases, 145 Thai ancestry nevirapine-tolerant HIV cases	2p16.1	intergenic	rs6545803-G	0.50	6E-6				Illumina [499730]	N
1047	chr2	60568744	60568745	rs243088	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	2p16.1	BCL11A	rs243088-T	0.46	3E-6		1.09	[1.04-1.13]	Affymetrix, Illumina [2500000] (imputed)	N
1047	chr2	60584818	60584819	rs243021	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	2p16.1	BCL11A	rs243021-A		3E-15		1.08	[1.06-1.10]	Affymetrix, Illumina [2426886] (imputed)	N
1047	chr2	60608758	60608759	rs2540917	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	2p16.1	BCL11A	rs2540917-C	NR	1E-14		0.0	[0.002-0.004] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1047	chr2	60620285	60620286	rs243070	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	2p16.1	BCL11A	rs243070-T	0.72	4E-13	(EA, MCV)	0.181	[0.13-0.23] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1048	chr2	60713234	60713235	rs10189857	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60713234	60713235	rs10189857	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60714860	60714861	rs6545816	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60714860	60714861	rs6545816	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60715178	60715179	rs6545817	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60715178	60715179	rs6545817	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60718042	60718043	rs1427407	25372704	Mtatiro SN	2014-11-05	PLoS One	Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.	Fetal hemoglobin levels in sickle cell anemia	1,213 Tanzanian ancestry cases	321 Afro-Caribbean and Sub-Saharan African cases	2p16.1	BCL11A	rs1427407-?	0.78	4E-53		0.3	[NR] unit decrease	Illumina [15153765] (imputed)	N
1048	chr2	60718042	60718043	rs1427407	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60718042	60718043	rs1427407	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60718042	60718043	rs1427407	17767159	Menzel S	2007-09-02	Nat Genet	A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.	F-cell distribution	179 European ancestry individuals	90 European ancestry individuals	2p16.1	BCL11A	rs1427407-?	0.14	6E-31		13.1	[NR] % variance	Illumina [308015]	N
1048	chr2	60718346	60718347	rs7599488	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p16.1	NR	rs7599488-C	NR	6E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1048	chr2	60718346	60718347	rs7599488	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60718346	60718347	rs7599488	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60719073	60719074	rs1896294	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60719073	60719074	rs1896294	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60719969	60719970	rs766432	25042611	Griffin PJ	2014-07-19	Am J Hematol	The Genetics of Hemoglobin A2 Regulation in Sickle Cell Anemia.	Hemoglobin A2 levels in sickle cell anemia	618 African American cases	173 African American cases, 398 Chinese ancestry individuals	2p16.1	BCL11A	rs766432-C	0.29	3E-10				Illumina [NR]	N
1048	chr2	60719969	60719970	rs766432	23406172	Milton JN	2013-02-14	Br J Haematol	Genetic determinants of haemolysis in sickle cell anaemia.	Sickle cell anemia (haemolysis)	1,117 individuals	213 African ancestry, West African ancestry and Afro-Caribbean individuals, 745 individuals	2p16.1	BCL11A	rs766432-?	NR	9E-7		0.22	NR unit increase	Illumina [569554]	N
1048	chr2	60719969	60719970	rs766432	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60719969	60719970	rs766432	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60719969	60719970	rs766432	20183929	Nuinoon M	2009-11-19	Hum Genet	A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.	Beta thalassemia/hemoglobin E disease	235 Thai-Chinese ancestry mild cases, 383 Thai-Chinese ancestry severe cases	52 Indonesian ancestry mild cases, 122 Indonesian ancestry severe cases	2p16.1	BCL11A	rs766432-?	0.24	1E-10		2.8	[2.04-3.84]	Illumina [548094]	N
1048	chr2	60719969	60719970	rs766432	20018918	Solovieff N	2009-12-16	Blood	Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.	Fetal hemoglobin levels	848 Black cases	305 Black cases, 406 Chinese ancestry cases, 113 Thai ancestry cases	2p16.1	BCL11A	rs766432-C	0.33	1E-29	(African)	0.23	[NR] unit increase	Illumina [~ 600000]	N
1048	chr2	60719969	60719970	rs766432	20018918	Solovieff N	2009-12-16	Blood	Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.	Fetal hemoglobin levels	848 Black cases	305 Black cases, 406 Chinese ancestry cases, 113 Thai ancestry cases	2p16.1	BCL11A	rs766432-C	0.25	1E-7	(East Asian)	0.32	[NR] unit increase	Illumina [~ 600000]	N
1048	chr2	60720245	60720246	rs11886868	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60720245	60720246	rs11886868	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60720245	60720246	rs11886868	18245381	Uda M	2008-02-05	Proc Natl Acad Sci U S A	Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.	Fetal hemoglobin levels	4,305 European ancestry individuals	521 European ancestry individuals	2p16.1	BCL11A	rs11886868-T	0.80	7E-35		0.48	[NR] s.d. decrease in HbF	Affymetrix [362129]	N
1048	chr2	60720588	60720589	rs10195871	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60720588	60720589	rs10195871	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60720756	60720757	rs10172646	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60720756	60720757	rs10172646	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60720950	60720951	rs4671393	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60720950	60720951	rs4671393	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60721310	60721311	rs7584113	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60721310	60721311	rs7584113	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60721346	60721347	rs7557939	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60721346	60721347	rs7557939	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60722039	60722040	rs6706648	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60722039	60722040	rs6706648	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60722240	60722241	rs6738440	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60722240	60722241	rs6738440	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60723265	60723266	rs7565301	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60723265	60723266	rs7565301	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60723671	60723672	rs6729815	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60723671	60723672	rs6729815	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60724085	60724086	rs1896295	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60724085	60724086	rs1896295	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60724086	60724087	rs1896296	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60724086	60724087	rs1896296	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60725450	60725451	rs7606173	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.42	2E-7		1.07	[0.68-1.46] unit increase	Illumina [660740]	N
1048	chr2	60725450	60725451	rs7606173	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	2p16.1	BCL11A	rs10189857-?,rs6545816-?,rs6545817-?,rs1427407-?,rs7599488-?,rs1896294-?,rs766432-?,rs11886868-?,rs10195871-?,rs10172646-?,rs4671393-?,rs7584113-?,rs7557939-?,rs6706648-?,rs6738440-?,rs7565301-?,rs6729815-?,rs1896295-?,rs1896296-?,rs7606173-?	0.254	2E-16		1.98	[1.57-2.39] unit increase	Illumina [660740]	N
1048	chr2	60762501	60762502	rs2556378	22012869	Hinney A	2011-10-19	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study in German patients with attention deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	495 European ancestry child and adolescent cases, 1,300 European ancestry adult controls	1,023 European ancestry individuals from 320 families, 2455 European ancestry cases and 896 European ancestry controls from 2,064 trios	2p16.1	BCL11A	rs2556378-T	NR	7E-6				Illumina [487484]	N
1049	chr2	60888201	60888202	rs881952	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2p16.1	intergenic	rs881952-?		5E-6	(DI)	2.3	[1.28-3.32] unit decrease	Illumina [693128]	N
1049	chr2	60924019	60924020	rs7589998	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p16.1	LOC442017	rs7589998-G	0.0060	5E-6	(Diet fat )	0.03	[NR] g/d increase	Illumina [899892]	N
1050	chr2	61043833	61043834	rs13034020	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	2p16.1	REL	rs13034020-G	0.16	3E-6		1.28	[1.16-1.43]	Affymetrix, Illumina [1004829] (imputed)	N
1050	chr2	61066665	61066666	rs1432295	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	2p16.1	NR	rs1432295-G	0.4	1E-6		1.24	[NR]	Illumina [296129]	N
1050	chr2	61066665	61066666	rs1432295	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	2p16.1	REL	rs1432295-G	0.40	2E-8		1.22	[1.14-1.30]	Illumina [504374]	N
1050	chr2	61072566	61072567	rs35741374	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	2p16.1	AC010733.4	rs35741374-?	NR	4E-12	(Psoriasis)	1.2	[1.15-1.27]	Affymetrix, Illumina [~ 5200000]	N
1051	chr2	61080481	61080482	rs842625	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	2p16.1	REL	rs842625-G	0.556	2E-10		1.16	[1.11-1.21]	Illumina [up to 4778154] (imputed)	N
1051	chr2	61080481	61080482	rs842625	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	2p16.1	REL	rs842625-G	0.556	1E-8	(EA)	1.2	[1.13-1.28]	Illumina [up to 4778154] (imputed)	N
1051	chr2	61081541	61081542	rs702873	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	2p16.1	FLJ16341, REL	rs702873-T	NR	3E-11		1.216545	[1.18-1.25]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1051	chr2	61081541	61081542	rs702873	22170493	Ellinghaus E	2011-12-15	J Invest Dermatol	Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL.	Psoriatic arthritis	535 European ancestry cases, 3,432 European ancestry controls	1,931 European ancestry cases, 6,785 European ancestry controls	2p16.1	REL	rs702873-?	NR	2E-7		1.2	[1.13-1.28]	Illumina [1160703] (imputed)	N
1051	chr2	61081541	61081542	rs702873	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	2p16.1	REL	rs702873-G	0.56	4E-9		1.12	[1.04-1.20]	Illumina [535475]	N
1051	chr2	61091949	61091950	rs842636	20953189	Stuart PE	2010-10-17	Nat Genet	Genome-wide association analysis identifies three psoriasis susceptibility loci.	Psoriasis	Up to 1,831 cases, up to 2,546 controls	Up to 4,064 cases, up to 4,685 controls	2p16.1	NR	rs842636-G	0.56	6E-6		1.15	[NR]	Illumina, Perlegen [up to 7456344] (imputed)	N
1051	chr2	61124849	61124850	rs34695944	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2p16.1	REL	rs34695944-C	0.36	4E-16	(EA)	1.13	[1.09-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1051	chr2	61124849	61124850	rs34695944	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2p16.1	REL	rs34695944-C	0.27	2E-15		1.12	[1.09-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1051	chr2	61136128	61136129	rs13031237	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	2p16.1	REL	rs13031237-T	0.36	8E-7		1.13	[1.07-1.18]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1051	chr2	61163580	61163581	rs67766926	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	2p16.1	retro-NONO	rs67766926-?	NR	7E-9	(Shared)			Affymetrix, Illumina [~ 5200000]	N
1051	chr2	61164330	61164331	rs13017599	22170493	Ellinghaus E	2011-12-15	J Invest Dermatol	Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL.	Psoriatic arthritis	535 European ancestry cases, 3,432 European ancestry controls	1,931 European ancestry cases, 6,785 European ancestry controls	2p16.1	REL	rs13017599-?	NR	1E-8		1.27	[1.18-1.35]	Illumina [1160703] (imputed)	N
1051	chr2	61164330	61164331	rs13017599	19503088	Gregersen PK	2009-06-07	Nat Genet	REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.	Rheumatoid arthritis	2,418 European ancestry cases, 4,504 European ancestry controls	2,604 cases, 2,882 controls	2p16.1	REL	rs13017599-A	0.34	2E-12		1.21	[1.15-1.28]	Illumina [278502]	N
1051	chr2	61186828	61186829	rs13003464	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	2p16.1	PUS10, PEX13, REL, KIAA1841, C2orf74, PAPOLG, USP34	rs13003464-G	0.487	5E-9		1.05	[1.00-1.40]	Affymetrix, Illumina [1060934] (imputed)	N
1051	chr2	61186828	61186829	rs13003464	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	2p16.1	PUS10, REL, CCDC139	rs13003464-G	NR	7E-9		1.18	[NR]	Illumina [266047]	N
1051	chr2	61186828	61186829	rs13003464	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	2p16.1	AHSA2, REL	rs13003464-G	0.40	4E-13		1.15	[1.11-1.20]	Illumina [292387]	N
1051	chr2	61204855	61204856	rs7608910	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p16.1	NR	rs7608910-G	0.3909	1E-23	(EA)	1.1355296	[1.11-1.16]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1051	chr2	61204855	61204856	rs7608910	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p16.1	NR	rs7608910-G	0.3909	3E-36	(EA)	1.1347865	[1.12-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1051	chr2	61204855	61204856	rs7608910	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p16.1	NR	rs7608910-G	0.3909	3E-23	(EA)	1.1281834	[1.1-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1051	chr2	61204855	61204856	rs7608910	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2p16.1	AHSA2, REL, KIAA1841, C2orf74	rs7608910-G	0.394	9E-32		1.138	[1.105-1.171]	Affymetrix, Illumina [1230000] (imputed)	N
1051	chr2	61204855	61204856	rs7608910	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	2p16.1	PUS10	rs7608910-G	0.39	2E-14		1.19	[1.14-1.24]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1052	chr2	61217541	61217542	rs10188217	21298027	Festen EA	2011-01-27	PLoS Genet	A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.	Crohn's disease and celiac disease	3,230 European ancestry Crohn's disease cases, 768 European ancestry celiac disease cases, 6,251 European ancestry controls	1,835 European ancestry Crohn's disease cases, 3,149 European ancestry celiac disease cases, 6,383 European ancestry controls	2p16.1	PUS10	rs10188217-C	NR	1E-11	(combined)			Affymetrix, Illumina [471504]	N
1052	chr2	61224258	61224259	rs10181042	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	2p16.1	REL, C2orf74	rs10181042-T	0.42	7E-9		1.14	[1.09-1.19]	Affymetrix, Illumina [953241] (imputed)	N
1053	chr2	61472631	61472632	rs4671400	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2p15	NR	rs4671400-?	NR	5E-6	(AA)	0.805	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1055	chr2	61651527	61651528	rs115219852	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p15	NR	rs115219852-?	NR	7E-7	(Latino)	1.184	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1056	chr2	61772256	61772257	rs6545883	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	2p15	NR	rs6545883-?	0.52	5E-6		1.2	[1.11-1.25]	Affymetrix [> 333754] (imputed)	N
1057	chr2	61876964	61876965	rs2421332	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	2p15	LOC100132037, LOC647077	rs2421332-C	0.24	3E-9	(n-6 PUFA)			Affymetrix [590000]	N
1061	chr2	62452660	62452661	rs11900673	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	2p15	B3GNT2	rs11900673-T	0.28	1E-8		1.11	[1.07-1.15]	Affymetrix, Illumina [1948139]	N
1061	chr2	62461119	62461120	rs13385025	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2p15	B3GNT2	rs13385025-A	0.17	9E-7		1.11	[1.07-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1062	chr2	62551471	62551472	rs10865331	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p15	NR	rs10865331-A	0.377	4E-10	(EA)	1.0816035	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1062	chr2	62551471	62551472	rs10865331	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	2p15	intergenic	rs10865331-A	0.396	1E-9		1.098	[1.062-1.134]	Affymetrix, Illumina [1230000] (imputed)	N
1062	chr2	62551471	62551472	rs10865331	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	2p15	intergenic	rs10865331-A	0.37	7E-34				Illumina [2223620] (imputed)	N
1062	chr2	62551471	62551472	rs10865331	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	2p15	B3GNT2	rs10865331-A	0.40	2E-19		1.27	[1.18-1.37]	Illumina [288662]	N
1062	chr2	62552320	62552321	rs11679753	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p15	NR	rs11679753-?	NR	5E-11	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1063	chr2	62679508	62679509	rs76503615	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p15	NR	rs76503615-A	NR	8E-6		1.11	[NR]	Illumina [7158791] (imputed)	N
1063	chr2	62713532	62713533	rs6545946	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	2p15	TMEM17, EHBP1, CPAMD8, AK3	rs6545946-C	0.77	7E-9		1.16	[1.06-1.27]	Affymetrix, Illumina [1060934] (imputed)	N
1064	chr2	62817018	62817019	rs17576670	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p15	NR	rs17576670-?	NR	6E-7		0.3445	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1066	chr2	63053047	63053048	rs11688816	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p15	EHBP1	rs11688816-G	0.529	4E-7		0.015	[0.0091-0.0205] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1066	chr2	63053047	63053048	rs11688816	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p15	EHBP1	rs11688816-G	0.526	1E-6	(EA, women)	0.019	[0.011-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1066	chr2	63053047	63053048	rs11688816	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p15	EHBP1	rs11688816-G	0.525	2E-8	(EA)	0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1066	chr2	63131730	63131731	rs721048	18264098	Gudmundsson J	2008-02-10	Nat Genet	Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.	Prostate cancer	1,854 European ancestry cases, 21,372 European ancestry controls	8,239 European ancestry cases, 7,590 European ancestry controls	2p15	EHBP1	rs721048-A	0.19	8E-9		1.15	[1.10-1.21]	Illumina [310520]	N
1066	chr2	63149556	63149557	rs2710642	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2p15	EHBP1	rs2710642-G	0.35	6E-9		0.024	[NR] unit decrease	NR [NR] (imputed)	N
1067	chr2	63178110	63178111	rs2430386	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	2p15	EHBP1	rs2430386-T	0.5	9E-12		1.14	[1.10-1.18]	Illumina [1531807] (imputed)	N
1067	chr2	63301163	63301164	rs6545977	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	2p15	EHBP1	rs6545977-?	NR	5E-7				Illumina [541129]	N
1069	chr2	63511434	63511435	rs2138798	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p15	WDPCP	rs2138798-A	0.217	8E-7	(Urinary free norepinephrine: creatinine)	0.03	[NR] unit increase	Illumina [899892]	N
1070	chr2	63596835	63596836	rs11683229	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	2p15	LOC51057	rs11683229-?	0.15	6E-6	(IL6)			Illumina [496032]	N
1071	chr2	63777857	63777858	rs186133190	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	2p15	WDPCP	rs186133190-C	0.015	1E-6		0.44	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
1074	chr2	64207444	64207445	rs6546043	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	2p14	UGP2, VPS54	rs6546043-A	0.7116	7E-6		2.079	[1.76-2.40]	Illumina [8809853] (imputed)	N
1075	chr2	64349201	64349202	rs7604693	21221998	Kim JJ	2011-01-09	Hum Genet	A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease.	Kawasaki disease	186 Korean ancestry child cases, 600 Korean ancestry controls	514 East Asian ancestry child cases, 1,042 East Asian ancestry controls	2p14	PELI1	rs7604693-G	0.05	2E-6	(CAL)	2.7	[1.77-4.12]	Affymetrix [641760]	N
1076	chr2	64364631	64364632	rs6733160	23921680	Kim DS	2013-07-31	Int Arch Allergy Immunol	A genome-wide association study in Koreans identifies susceptibility loci for allergic nickel dermatitis.	Allergic dermatitis (nickel)	up to 24 Korean ancestry cases, 52 Korean ancestry controls	NA	2p14	PELI1	rs6733160-C	NR	7E-6	(2-fold positive reaction cases)	9.276	[NR]	Affymetrix [NR]	N
1077	chr2	64495626	64495627	rs1529102	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	2p14	RPL23AP37, LOC100128607	rs1529102-A	0.495	6E-6		0.07	[0.041-0.099] cup size increase	Illumina [7422970] (imputed)	N
1077	chr2	64503894	64503895	rs2698530	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron status biomarkers	336 European ancestry iron deficiency cases, 343 European ancestry controls	71 European ancestry iron deficiency cases, 161 European ancestry controls	2p14	intergenic	rs2698530-C	NR	4E-6	(Transferrin saturation)	20.0	[NR] unit decrease	Illumina [331060]	N
1077	chr2	64503894	64503895	rs2698530	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron status biomarkers	336 European ancestry iron deficiency cases, 343 European ancestry controls	71 European ancestry iron deficiency cases, 161 European ancestry controls	2p14	intergenic	rs2698530-C	NR	2E-7	(Total iron-binding capacity)	20.72	[NR] ug/dL increase	Illumina [331060]	N
1077	chr2	64503894	64503895	rs2698530	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron status biomarkers	336 European ancestry iron deficiency cases, 343 European ancestry controls	71 European ancestry iron deficiency cases, 161 European ancestry controls	2p14	intergenic	rs2698530-C	NR	1E-7	(Unsaturated iron-binding capacity)	28.75	[NR] ug/dL increase	Illumina [331060]	N
1081	chr2	65027623	65027624	rs11683197	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2p14	SERTAD2	rs11683197-T	0.72	5E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1082	chr2	65208073	65208074	rs10211524	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p14	SLC1A4	rs10211524-A	0.42	6E-16	(2-aminobutyrate)	0.019	[0.015-0.023] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1082	chr2	65208073	65208074	rs10211524	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	2p14	SLC1A4	rs10211524-?	0.39	3E-10				Illumina [~ 2000000] (imputed)	N
1082	chr2	65220909	65220910	rs2160387	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	2p14	SLC1A4	rs2160387-?	NR	3E-22	(Ala, Val)	0.17	[0.13-0.21] unit decrease	Illumina [~ 7700000] (imputed)	N
1083	chr2	65284622	65284623	rs2540948	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	2p14	CEP68	rs2540948-C	0.35	7E-9		0.036	[0.024-0.048] s.d. decrease	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1085	chr2	65595585	65595586	rs934734	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	952 Han Chinese ancestry cases, 943 Han Chinese ancestry controls	5,539 European ancestry cases, 20,169 European ancestry controls	2p14	SPRED2	rs934734-G		2E-8		1.142	[NR]	Affymetrix [1497047] (imputed)	N
1085	chr2	65595585	65595586	rs934734	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	2p14	SPRED2	rs934734-G	0.49	5E-10		1.13	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1085	chr2	65598299	65598300	rs1858037	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2p14	SPRED2	rs1858037-T	0.65	2E-9	(EA)	1.09	[1.06-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1085	chr2	65598299	65598300	rs1858037	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2p14	SPRED2	rs1858037-T	0.52	3E-15		1.11	[1.08-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1085	chr2	65598299	65598300	rs1858037	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2p14	SPRED2	rs1858037-T	0.16	1E-8	(East Asian)	1.19	[1.12-1.26]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1085	chr2	65608908	65608909	rs1876518	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	2p14	SPRED2	rs1876518-?	NR	2E-8				Illumina [472854]	N
1086	chr2	65667271	65667272	rs6740462	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p14	NR	rs6740462-A	0.74	6E-12	(EA)	1.0832434		Affymetrix, Illumina [~ 9000000] (imputed)	N
1086	chr2	65667271	65667272	rs6740462	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2p14	NR	rs6740462-C	0.74	2E-12	(EA)	1.1048803		Affymetrix, Illumina [~ 9000000] (imputed)	N
1086	chr2	65667271	65667272	rs6740462	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2p14	SPRED2	rs6740462-A	0.739	2E-8		1.081	[1.046-1.116]	Affymetrix, Illumina [1230000] (imputed)	N
1086	chr2	65752712	65752713	rs702885	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	2p14	intergenic	rs702885-?	NR	8E-6	(Theta power, Cz)	0.189	[0.11-0.27] unit decrease	Illumina [527829]	N
1086	chr2	65758524	65758525	rs3845817	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	2p14	intergenic	rs3845817-T	NR	2E-6		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
1086	chr2	65791580	65791581	rs897876	24892410	Leu HB	2014-06-03	PLoS One	A novel SNP associated with nighttime pulse pressure in young-onset hypertension patients could be a genetic prognostic factor for cardiovascular events in a general cohort in Taiwan.	Pulse pressure in young-onset hypertension	382 individuals	559 individuals	2p14	TGFA, FLJ16124	rs897876-T	0.406	2E-7	(Nighttime PP)	1.036	[0.45-1.62] unit increase	Illumina [560186]	N
1087	chr2	65862377	65862378	rs1457451	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	2p14	Q6ZNG6	rs1457451-?	NR	3E-6	(transferrin saturation)			Illumina [315887]	N
1090	chr2	66200647	66200648	rs1385167	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2p14	MEIS1	rs1385167-G	0.1556	1E-8		0.0265	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1090	chr2	66200647	66200648	rs1385167	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2p14	MEIS1	rs1385167-G	0.1549	3E-6	(men)	0.0315	[0.018-0.045] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1090	chr2	66200647	66200648	rs1385167	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2p14	MEIS1	rs1385167-G	0.1496	2E-7	(EA, men)	0.0363	[0.023-0.05] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1090	chr2	66200647	66200648	rs1385167	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2p14	MEIS1	rs1385167-G	0.1475	2E-9	(EA)	0.0293	[0.02-0.039] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1090	chr2	66258700	66258701	rs2699783	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	2p14	MIR4778	rs2699783-?	NR	7E-6				NR [up to 8466825] (imputed)	N
1094	chr2	66756975	66756976	rs3891585	23139255	Butler AM	2012-11-08	Circ Cardiovasc Genet	Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.	PR interval	13,415 African American individuals	NA	2p14	MEIS1	rs3891585-A	0.43	1E-11		2.13	[1.52-2.74] unit increase	Affymetrix, Illumina [2845108] (imputed)	N
1094	chr2	66760078	66760079	rs11678354	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	PR segment	16,468 European ancestry individuals	NA	2p14	MEIS1	rs11678354-A	0.361	5E-9		1.259	[0.84-1.68] unit increase	Illumina [2300000] (imputed)	N
1094	chr2	66764996	66764997	rs10865355	21347284	Smith JG	2011-02-10	PLoS Genet	Genome-wide association studies of the PR interval in African Americans.	PR interval	6,247 African American individuals	2,022 African American individuals	2p14	MEIS1	rs10865355-A	0.43	3E-9		2.89	[1.95-3.83] unit increase	Affymetrix [2147483647] (imputed)	N
1094	chr2	66771999	66772000	rs11897119	20062060	Pfeufer A	2010-01-10	Nat Genet	Genome-wide association study of PR interval.	PR interval	28,517 European ancestry individuals	NA	2p14	MEIS1	rs11897119-C	0.39	5E-11		1.36	[0.95-1.77] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1094	chr2	66781452	66781453	rs2300478	21779176	Winkelmann J	2011-07-14	PLoS Genet	Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.	Restless legs syndrome	922 European ancestry cases, 1,526 European ancestry controls	3,935 European ancestry cases, 5,754 European ancestry controls	2p14	MEIS1	rs2300478-G	0.24	3E-49		1.68	[1.57-1.81]	Affymetrix [301406]	N
1094	chr2	66781452	66781453	rs2300478	17637780	Winkelmann J	2007-07-18	Nat Genet	Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.	Restless legs syndrome	401 European ancestry cases, 1,644 European ancestry controls	906 European ancestry cases, 891 European ancestry controls, 255 French Canadian cases, 287 French Canadian controls	2p14	MEIS1	rs2300478-G	0.24	3E-28		1.74	[1.57-1.92]	Affymetrix [236758]	N
1095	chr2	66958803	66958804	rs10490193	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	2p14	MEIS1	rs10490193-A	NR	7E-6		4.494	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1095	chr2	66966065	66966066	rs2901879	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	2p14	MEIS1, DNMT3AP1	rs2901879-?	0.41-0.49	7E-7	(Red meat)	1.11	[1.06-1.16]	Affymetrix, Illumina [> 2700000] (imputed)	N
1096	chr2	67055114	67055115	rs17032597	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Milk allergy	291 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 614 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	2p14	LOC100289292, ETAA1	rs17032597-?	NR	2E-6				Illumina [6459842] (imputed)	N
1098	chr2	67243108	67243109	rs11886159	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2p14	NR	rs11886159-?	NR	4E-7		0.4335	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1098	chr2	67253621	67253622	rs72904859	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2p14	NR	rs72904859-?	NR	4E-7		0.4346	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1098	chr2	67297408	67297409	rs1833219	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	2p14	ETAA1	rs1833219-?	0.72	8E-6	(Age 20-81 years)	1.32	[1.16-1.49]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1098	chr2	67302742	67302743	rs17032980	25710658	Diouf B	2015-02-24	JAMA	Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia.	Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia	53 European ancestry cases with peripheral neuropathy, 156 cases without peripheral neuropathy, 10 African ancestry cases with peripheral neuropathy, 33 African ancestry cases without peripheral neuropathy, 1 Asian ancestry case with peripheral neuropathy, 1 Asian ancestry case without peripheral neuropathy, 14 Hispanic cases with peripheral neuropathy, 30 Hispanic cases without peripheral neuropathy, 8 cases with peripheral neuropathy, 15 cases without peripheral neuropathy	NA	2p14	ETAA1	rs17032980-?	NR	1E-8		3.17	[1.95-5.17]	Affymetrix [1576016] (imputed)	N
1100	chr2	67593802	67593803	rs962856	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	2p14	intergenic	rs962856-C	0.379	2E-8		1.12	[1.08-1.17]	Illumina [866891] (imputed)	N
1100	chr2	67601970	67601971	rs6739392	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist-hip ratio	up to 19,744 African American individuals	Up to 7,606 African American individuals	2p14	ETAA1	rs6739392-A	0.23	4E-6	(BMI_women)	0.06	[0.04-0.08] unit increase	Affymetrix, Illumina [3200000] (imputed)	N
1101	chr2	67639768	67639769	rs1486134	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	2p14	ETAA1	rs1486134-G	0.275	3E-9		1.14	[1.09-1.19]	Illumina [866891] (imputed)	N
1102	chr2	67864674	67864675	rs4141819	23104006	Nyholt DR	2012-10-28	Nat Genet	Genome-wide association meta-analysis identifies new endometriosis risk loci.	Endometriosis	3,181 European ancestry cases, 8,075 European ancestry controls, 1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls	1,044 Japanese ancestry, 4,017 Japanese ancestry controls	2p14	NR	rs4141819-C	0.309	9E-8		1.15	[1.09-1.21]	Illumina [407632]	N
1103	chr2	67942479	67942480	rs724568	20038947	Shyn SI	2009-12-29	Mol Psychiatry	Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.	Major depressive disorder (broad)	3,957 European ancestry cases, 3,428 European ancestry controls	NA	2p14	BC043421	rs724568-C	0.36	5E-6		1.17	[NR]	Affymetrix, Perlegen [2391203] (imputed)	N
1103	chr2	67973886	67973887	rs13432159	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	2p14	intergenic	rs13432159-G	0.08	9E-8	(Sertraline, General side effects)			Affymetrix [421789]	N
1103	chr2	67976787	67976788	rs6724422	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	2p14	intergenic	rs6724422-T	0.06	4E-7	(Sertraline, General side effects)			Affymetrix [421789]	N
1104	chr2	68070224	68070225	rs6747972	21779176	Winkelmann J	2011-07-14	PLoS Genet	Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.	Restless legs syndrome	922 European ancestry cases, 1,526 European ancestry controls	3,935 European ancestry cases, 5,754 European ancestry controls	2p14	intergenic	rs6747972-A	0.44	9E-11		1.23	[1.16-1.31]	Affymetrix [301406]	N
1105	chr2	68237912	68237913	rs146109287	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	2p14	intergenic	rs146109287-C	NR	2E-7	(Fixed effect)	0.1	[0.061-0.139] unit increase	Illumina [4736131] (imputed)	N
1106	chr2	68359896	68359897	rs4078978	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	2p14	WDR92	rs4078978-A		2E-18	(AA)			Illumina [NR]	N
1106	chr2	68386025	68386026	rs78556816	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	2p14	NR	rs78556816-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
1107	chr2	68495001	68495002	rs2120335	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p14	PPP3R1	rs2120335-A	0.406	8E-10		0.019	[0.013-0.025] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1108	chr2	68570771	68570772	rs9309413	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	2p14	PLEK	rs9309413-?	0.45	2E-9	(SM)			Affymetrix [187454]	N
1108	chr2	68579930	68579931	rs7578047	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	2p14	PLEK	rs7578047-C	0.142	4E-6	(Reaction)	0.22	[NR] unit decrease	Affymetrix [677643]	N
1108	chr2	68598954	68598955	rs17035378	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	2p14	PLEK	rs17035378-?	0.72	8E-9		1.14	[1.09-1.19]	Illumina [292387]	N
1108	chr2	68646782	68646783	rs7592330	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	2p13.3	FBXO48, C2orf13, PLEK	rs7592330-A	0.56	2E-7		1.15	[NR]	Affymetrix, Illumina [2529394]	N
1108	chr2	68647094	68647095	rs7595037	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	2p13.3	PLEK	rs7595037-A	NR	5E-11		1.11	[1.1-1.12]	Illumina [465434]	N
1108	chr2	68650996	68650997	rs6759808	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p13.3	LOC391383	rs6759808-G	0.194	4E-6	(AST/ALT)	0.03	[NR] unit increase	Illumina [899892]	N
1108	chr2	68652579	68652580	rs11126185	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p13.3	LOC391383	rs11126185-G	0.188	5E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1109	chr2	68733388	68733389	rs10208940	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	2p13.3	APLF	rs10208940-C	0.14	1E-6		0.083	[0.05-0.116] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1111	chr2	69033582	69033583	rs115522963	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	2p13.3	NR	rs115522963-T	0.003	3E-6		1.157	[0.67-1.65] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1111	chr2	69063908	69063909	rs10496166	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	2p13.3	intergenic	rs10496166-A	0.13	4E-6		0.18	[0.10-0.26] unit increase	Illumina [~ 318327]	N
1112	chr2	69198387	69198388	rs4254535	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	2p13.3	NR	rs4254535-?	NR	5E-6		1.12	[NR]	Illumina [511919]	N
1113	chr2	69287942	69287943	rs4315565	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	2p13.3	ANTXR1	rs4315565-A	0.20	1E-8		0.059	[0.039-0.079] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1116	chr2	69723709	69723710	rs7577851	19772629	Latourelle JC	2009-09-22	BMC Med Genet	Genomewide association study for onset age in Parkinson disease.	Parkinson's disease (age of onset)	857 European ancestry familial cases, 440 idiopathic cases	747 European ancestry idiopathic cases	2p13.3	AAK1	rs7577851-T	NR	9E-6		6.85	[NR] years decrease	Illumina, Perlegen [1861750] (imputed)	N
1117	chr2	69813457	69813458	rs12987661	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	2p13.3	AAK1	rs12987661-C		6E-6		0.13	[0.07-0.18] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1117	chr2	69839632	69839633	rs6546537	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	2p13.3	AAK1	rs6546537-C	0.28	6E-6	(EA)	0.05	[0.03-0.07] unit decrease	Illumina [up to 905285]	N
1118	chr2	69985434	69985435	rs7597155	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		2p13.3	ANXA4	rs7597155-A	NR	5E-6		0.0149	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1120	chr2	70151470	70151471	rs10205487	24954085	Della-Morte D	2014-06-14	J Neurol Sci	Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.	Carotid plaque burden (smoking interaction)	665 Hispanic individuals	264 Hispanic indivduals	2p13.3	MXD1	rs10205487-A	0.45	2E-6		0.38	[0.22-0.54] unit increase	Affymetrix [722379]	N
1120	chr2	70182804	70182805	rs7583236	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p13.3	SASP	rs7583236-G	0.247	4E-6	(Sedentary&light activity )	0.04	[NR] min/d increase	Illumina [899892]	N
1121	chr2	70368922	70368923	rs6708331	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p13.3	C2orf42	rs6708331-A	0.094	6E-6	(WC change )	0.04	[NR] cm/y increase	Illumina [899892]	N
1124	chr2	70665661	70665662	rs187293906	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	2p13.3	TGFA, ADD2, ASPRV1, Mir_548, ATP6V1B1, C2orf42, CD207, CLEC4F, FAM136A, FIGLA, LOC100133985, PCBP1, PCBP1-AS1, PCYOX1, SNRPG, TIA1, TRNA, TRNA_Gly, TRNA_Pseudo, VAX2	rs187293906-T	0.0015	5E-6		3.27	[1.65-6.49]	Illumina [7300000] (imputed)	N
1124	chr2	70697666	70697667	rs3771514	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p13.3	TGFA	rs3771514-A	0.386	8E-6	(Height z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
1124	chr2	70697719	70697720	rs3771512	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	2p13.3	TGFA	rs3771512-A	0.45	7E-6	(Right superior frontal gyrus)	740.3	[NR] unit increase	Affymetrix [517946]	N
1124	chr2	70736218	70736219	rs454305	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	2p13.3	TGFA	rs454305-?	NR	5E-6				Illumina [874956]	N
1124	chr2	70764687	70764688	rs432203	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	2p13.3	TGFA	rs432203-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1125	chr2	70869472	70869473	rs6733938	25353672	Fernandez-Navarro P	2014-10-29	Int J Cancer	Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.	Mammographic density	239 European ancestry low mammographic density females, 239 European ancestry high mammographic density females	NA	2p13.3	NR	rs6733938-G	0.155	5E-6		2.38	[1.61-3.45]	Illumina [575374]	N
1127	chr2	71063941	71063942	rs4852708	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p13.3	NR	rs4852708-C	0.875251656884876	9E-6	(IGP19)	0.2055	[0.11-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
1127	chr2	71133013	71133014	rs3771395	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		2p13.3	VAX2	rs3771395-G	0.16	2E-7		0.082	[NR] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1128	chr2	71255690	71255691	rs390966	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Erythema nodosum in inflammatory bowel disease	103 European ancestry cases, 5,653 European ancestry controls	NA	2p13.3	CD207, NAGK, CLEC4F, MCEE	rs390966-G	NR	3E-6		2.17	[1.60-3.00]	Illumina [2017629] (imputed)	N
1130	chr2	71525784	71525785	rs12612930	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	2p13.3	ZNF638	rs12612930-C	0.6	2E-10		0.1	[0.069-0.131] unit increase	Affymetrix [1532051] (imputed)	N
1130	chr2	71560664	71560665	rs3771381	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2p13.2	ZNF638	rs3771381-A	0.48	8E-19		0.045	[0.033-0.057] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1131	chr2	71584484	71584485	rs7568069	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p13.2	ZNF638	rs7568069-A	0.578	3E-13		0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1131	chr2	71688117	71688118	rs56988800	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	2p13.2	DYSF	rs56988800-?	NR	1E-7				Affymetrix [5486770] (imputed)	N
1132	chr2	71734897	71734898	rs12464624	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	2p13.2	DYSF	rs12464624-C	0.58	5E-6	(women)	0.082	[0.047-0.117] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1133	chr2	71958479	71958480	rs2900976	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	2p13.2	DYSF	rs2900976-?	0.30	1E-6	(Albumin)			Illumina [496032]	N
1137	chr2	72361504	72361505	rs3768644	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p13.2	NR	rs3768644-G	NR	1E-7		1.098901	[NR]	Illumina [7158791] (imputed)	N
1137	chr2	72361504	72361505	rs3768644	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	2p13.2	CYP26B1	rs3768644-G	0.899	7E-9		1.1061947	[1.07-1.14]	Affymetrix, Illumina [9005918] (imputed)	N
1143	chr2	73161550	73161551	rs2077586	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p13.2	NR	rs2077586-A	NR	2E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
1145	chr2	73419042	73419043	rs78944489	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p13.2	NR	rs78944489-C	NR	2E-6		1.1111112	[NR]	Illumina [7158791] (imputed)	N
1146	chr2	73623438	73623439	rs56145559	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p13.1	NR	rs56145559-T	NR	1E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
1147	chr2	73743981	73743982	rs9309473	21931564	Nicholson G	2011-09-08	PLoS Genet	A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.	Metabolite levels	142 European ancestry female twins	202 European ancestry individuals	2p13.1	NAT8, TPRKB, DUSP11, ALMS1	rs9309473-G	NR	1E-11	(N-ACu)	1.1	[0.85-1.35] unit increase	Illumina [2541644] (imputed)	N
1147	chr2	73746922	73746923	rs11884776	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	2p13.1	ALMS1	rs11884776-C	0.22	6E-17	(1.6975, N-Acetylated compunds)	0.35	[NR] unit increase	Illumina [713870] (imputed)	N
1147	chr2	73752367	73752368	rs10469966	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p13.1	NAT8	rs10469966-A	0.25	1E-51	(X-12093)	0.102	[0.088-0.116] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1147	chr2	73785357	73785358	rs6546847	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	2p13.1	ALMS1	rs6546847-A	0.22	5E-161	(2.0375, N-Acetylated compunds)	0.91	[NR] unit increase	Illumina [713870] (imputed)	N
1147	chr2	73785357	73785358	rs6546847	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	2p13.1	ALMS1	rs6546847-A	0.22	1E-17	(2.7875, N-Acetylated compunds)	0.34	[NR] unit increase	Illumina [713870] (imputed)	N
1148	chr2	73818935	73818936	rs13391552	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	2p13.1	NAT8	rs13391552-A	0.216	5E-252	(SM-2 + 2 other traits)	0.371	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1148	chr2	73837954	73837955	rs6546857	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	2p13.1	ALMS1	rs6546857-A	0.477	1E-23		0.09	[0.07-0.10] unit increase	Affymetrix [~ 2500000] (imputed)	N
1148	chr2	73868327	73868328	rs13538	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	2p13.1	NAT8	rs13538-A	0.78	5E-498	(N-acetylornithine/myo-inositol)	0.223	[0.21-0.23] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1148	chr2	73868327	73868328	rs13538	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p13.1	NAT8	rs13538-A	0.78	8E-157	(X-12510--2-aminooctanoic acid)	0.119	[0.11-0.13] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1148	chr2	73868327	73868328	rs13538	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	2p13.1	NAT8	rs13538-A	0.48	4E-66	(N-acetylornithine)	0.3	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1148	chr2	73868327	73868328	rs13538	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	2p13.1	NAT8	rs13538-A		2E-23		0.09	[0.07-0.10] unit increase	Affymetrix [~ 2500000] (imputed)	N
1148	chr2	73868327	73868328	rs13538	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	2p13.1	NAT8, NAT8B, ALMS1	rs13538-G	0.23	5E-14	(eGFRcrea)	0.01	[0.005-0.013] ml/min/1.73 m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1148	chr2	73900899	73900900	rs10206899	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p13.1	NAT8	rs10206899-T	0.78	8E-123	(X-11787)	0.04	[0.036-0.044] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1148	chr2	73900899	73900900	rs10206899	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p13.1	NAT8	rs10206899-T	0.78	5E-481	(N-acetylornithine)	0.221	[0.21-0.23] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1148	chr2	73900899	73900900	rs10206899	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2p13.1	NAT8	rs10206899-T	0.78	2E-14	(X-13477)	0.025	[0.019-0.031] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1148	chr2	73900899	73900900	rs10206899	23535967	Tin A	2013-03-28	J Hum Genet	Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.	Glomerular filtration rate	9,049 European ancestry individuals		2p13.1	NAT8	rs10206899-C	0.23	6E-9	(3-measure model)	1.1	[0.73-1.47] unit increase	Affymetrix [> 2500000] (imputed)	N
1148	chr2	73900899	73900900	rs10206899	23535967	Tin A	2013-03-28	J Hum Genet	Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.	Glomerular filtration rate	9,049 European ancestry individuals		2p13.1	NAT8	rs10206899-C	0.23	4E-8	(Single-measure model)	1.17	[0.76-1.58] unit increase	Affymetrix [> 2500000] (imputed)	N
1148	chr2	73900899	73900900	rs10206899	23535967	Tin A	2013-03-28	J Hum Genet	Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.	Glomerular filtration rate	9,049 European ancestry individuals		2p13.1	NAT8	rs10206899-C	0.23	2E-9	(6-measure model)	1.1	[0.75-1.45] unit increase	Affymetrix [> 2500000] (imputed)	N
1148	chr2	73900899	73900900	rs10206899	20383145	Chambers JC	2010-04-11	Nat Genet	Genetic loci influencing kidney function and chronic kidney disease.	Creatinine levels	23,812 European ancestry individuals	16,626 European ancestry individuals	2p13.1	NAT8, TPRKB, DUSP11, NAT8B, ALMS1	rs10206899-G	0.22	1E-15		1.0	[0.7-1.2] % decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1151	chr2	74202577	74202578	rs4852324	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	2p13.1	DGUOK, TET3	rs4852324-T	0.76	6E-14		1.2658		Illumina [2100739] (imputed)	N
1151	chr2	74208361	74208362	rs6705628	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	2p13.1	DGUOK, TET3	rs6705628-C	0.78	7E-17		1.3333		Illumina [2100739] (imputed)	N
1151	chr2	74245776	74245777	rs6546886	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	2p13.1	DGUOK, TET3	rs6546886-?	0.29	3E-6		2.13	[1.55-2.93]	Affymetrix [832357]	N
1153	chr2	74463565	74463566	rs13006863	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	2p13.1	SLC4A5	rs13006863-?	NR	3E-6	(Whole cohort; AA)			Illumina [up to 871502]	N
1153	chr2	74463565	74463566	rs13006863	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted TNF-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	2p13.1	SLC4A5	rs13006863-A		5E-7	(EA)			Illumina [NR]	N
1156	chr2	74939175	74939176	rs1137	22685421	Fan Q	2012-06-07	PLoS Genet	Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.	Myopia (pathological)	2,789 Chinese ancestry individuals, 2,155 Malay ancestry individuals	NA	2p13.1	SEMA4F	rs1137-C	0.16	4E-6		0.12	[0.061-0.179] mm increase	Illumina [456634]	N
1156	chr2	74972080	74972081	rs205611	21835309	Larsson M	2011-08-12	Am J Hum Genet	GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.	Iris characteristics	2,121 European ancestry individuals	499 European ancestry adolescent twins and siblings, 73 European ancestry adult individuals	2p13.1	AC007387.1	rs205611-A		1E-6	(Crypts)	0.12	[0.06-0.18] unit decrease	Illumina [274604] (imputed)	N
1157	chr2	75074966	75074967	rs681900	22087292	Sun L	2011-11-07	PLoS One	Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass.	Femoral neck bone geometry	1,627 Han Chinese ancestry individuals	2,286 European ancestry individuals	2p12	HK2	rs681900-?	NR	3E-6	(ALM-BR)			Affymetrix [689368]	N
1160	chr2	75419713	75419714	rs3771863	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		2p12	TACR1	rs3771863-?	NR	3E-9	(Strength - L-inferior parietal)			Illumina [428287]	N
1160	chr2	75459667	75459668	rs765684	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	2p12	TACR1	rs765684-G		9E-7	(WHR, men)			Affymetrix, Illumina [2846694] (imputed)	N
1160	chr2	75473915	75473916	rs7588010	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2p12	TACR1, FAM176A	rs7588010-A	0.357	4E-9		2.72	[1.93-3.84]	Illumina [1556551]	N
1163	chr2	75790488	75790489	rs17011455	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	2p12	FAM176A	rs17011455-?	0.01661	5E-6	(LAC)	5.211	[NR]	Affymetrix [906600]	N
1163	chr2	75792142	75792143	rs17011478	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2p12	FAM176A	rs17011478-A	0.176	6E-6	(Head circumference )	0.04	[NR] cm increase	Illumina [899892]	N
1163	chr2	75869827	75869828	rs12105510	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	2p12	intergenic	rs12105510-?		6E-6				NR [~ 3000000] (imputed)	N
1164	chr2	75926564	75926565	rs2298948	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	2p12	GCFC2	rs2298948-C	0.29	5E-8	(Hippocampal volume)			Illumina [2131250] (imputed)	N
1166	chr2	76184815	76184816	rs2583526	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Age of smoking initiation	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	2p12	NR	rs2583526-?		1E-6				Illumina [1211988] (imputed)	N
1166	chr2	76204988	76204989	rs12471016	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	8,631 European ancestry individuals	NA	2p12	C2orf3	rs12471016-T	0.086	4E-6		0.25	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1166	chr2	76240360	76240361	rs436000	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (fairness)	9,617 European ancestry individuals	NA	2p12	intergenic	rs436000-T	NR	8E-7		0.125	[0.076-0.174] unit increase	Illumina [628922]	N
1167	chr2	76375710	76375711	rs10204325	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (fairness)	9,617 European ancestry individuals	NA	2p12	intergenic	rs10204325-T	NR	1E-7		0.134	[0.085-0.183] unit increase	Illumina [628922]	N
1168	chr2	76455167	76455168	rs13027106	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p12	NR	rs13027106-C	NR	3E-7		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1170	chr2	76759574	76759575	rs74529274	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	2p12	intergenic	rs74529274-?	NR	9E-6	(SF8)			Affymetrix [5476100] (imputed)	N
1174	chr2	77223937	77223938	rs1470506	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p12	NR	rs1470506-C	0.595063458147818	4E-7	(IGP65)	0.16	[0.098-0.222] unit increase	Illumina [~ 2500000] (imputed)	N
1174	chr2	77223937	77223938	rs1470506	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p12	NR	rs1470506-C	0.594972305394561	6E-6	(IGP61)	0.1425	[0.081-0.204] unit increase	Illumina [~ 2500000] (imputed)	N
1174	chr2	77246330	77246331	rs6547115	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p12	NR	rs6547115-G	0.391438525144637	8E-6	(IGP76)	0.1432	[0.08-0.206] unit decrease	Illumina [~ 2500000] (imputed)	N
1176	chr2	77555905	77555906	rs13025652	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	2p12	LRRTM4, C2orf3	rs13025652-C	0.66	5E-6	(DWRT-dr)	0.0913	[0.052-0.131] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1177	chr2	77704888	77704889	rs61712019	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p12	NR	rs61712019-T	NR	1E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1179	chr2	77942843	77942844	rs11126630	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Middle childhood and early adolescence aggressive behavior	16,311 European ancestry individuals	NA	2p12	LRRTM4	rs11126630-T	0.52	6E-7				Affymetrix, Illumina [up to 3856236] (imputed)	N
1179	chr2	77942843	77942844	rs11126630	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	2p12	SNAR-H, LRRTM4	rs11126630-T	0.49	5E-8		0.03	[0.010-0.050] unit decrease	Affymetrix, Illumina [up to 3856236] (imputed)	N
1180	chr2	78075243	78075244	rs7595103	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	2p12	intergenic	rs7595103-A	0.64	7E-6				Perlegen [378332]	N
1184	chr2	78539665	78539666	rs2037723	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second to forced vital capacity ratio)	1,015 European ancestry individuals, 541 African American individuals	NA	2p12	NR	rs2037723-?		3E-6	(AA)			Illumina [up to 524000]	N
1184	chr2	78613673	78613674	rs72822868	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	2p12	SNAR-H	rs72822868-T	NR	5E-7	(Cases)	0.23	[0.14-0.32] unit increase	Illumina [6900000] (imputed)	N
1189	chr2	79198167	79198168	rs11683503	24152035	Goodbourn PT	2013-10-23	Genes Brain Behav	Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.	Contrast sensitivity	985 European ancestry individuals	NA	2p12	REG1A, CTNNA2, REG3G, REG1B	rs11683503-?	0.079	1E-7		4.41	[NR] unit increase	Illumina [642758]	N
1191	chr2	79506642	79506643	rs4566392	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p12	REG3A	rs4566392-A	0.107	7E-6	(EA, women)	0.037	[0.021-0.052] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1191	chr2	79506642	79506643	rs4566392	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p12	REG3A	rs4566392-A	0.107	6E-6		0.029	[0.016-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1191	chr2	79506642	79506643	rs4566392	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p12	REG3A	rs4566392-A	0.107	5E-6	(EA)	0.029	[0.017-0.042] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1191	chr2	79539987	79539988	rs13409348	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	2p12	CTNNA2	rs13409348-G	0.24	3E-6		1.2	[1.11-1.29]	Affymetrix, Illumina [2366197] (imputed)	N
1192	chr2	79624987	79624988	rs4852146	25411281	Dashti HS	2014-10-08	Am J Clin Nutr	Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations.	Circulating phylloquinone levels	2,138 European ancestry individuals	NA	2p12	CTNAA2	rs4852146-C	0.33	1E-7	(Model 2)	0.19	[0.11-0.27] unit increase	Affymetrix, Illumina [2543887] (imputed)	N
1192	chr2	79632346	79632347	rs2100290	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Alcohol consumption	7,188 European ancestry individuals	NA	2p12	NR	rs2100290-G	0.49	2E-6		3.443	[NR] unit decrease	Illumina [527829]	N
1192	chr2	79687251	79687252	rs399885	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	2p12	intergenic	rs399885-?	0.327	5E-7	(clozapine-heart rate)			Affymetrix [492900]	N
1193	chr2	79709353	79709354	rs7570469	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	2p12	intergenic	rs7570469-?	0.418	6E-7	(clozapine-heart rate)			Affymetrix [492900]	N
1194	chr2	79922801	79922802	rs11695685	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	2p12	CTNNA2	rs11695685-?	0.30	5E-7	(IL10)			Illumina [496032]	N
1194	chr2	79944107	79944108	rs13025833	25824743	Haryono SJ	2015-01-01	Asian Pac J Cancer Prev	A Pilot Genome-wide Association Study of Breast Cancer Susceptibility Loci in Indonesia.	Breast cancer	89 Indonesian ancestry cases, 46 Indonesian ancestry controls	NA	2p12	CTNNA2	rs13025833-A	0.52	1E-7		1.2	[1.13-1.33]	Affymetrix [292887]	N
1196	chr2	80119493	80119494	rs13034462	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	2p12	CTNNA2	rs13034462-?	NR	7E-6		0.0603	[0.034-0.087] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
1196	chr2	80187968	80187969	rs6752828	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2p12	CTNNA2	rs6752828-C	0.461	3E-7	(EA, men)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1197	chr2	80281172	80281173	rs6738962	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		2p12	CTNNA2	rs6738962-?	0.04	1E-8		0.18	unit decrease	Illumina [NR] (imputed)	N
1201	chr2	80794914	80794915	rs191655746	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	2p12	NR	rs191655746-?		3E-8	(PCB169)	1.73	[1.12-2.34] unit decrease	Illumina [8736858] (imputed)	N
1204	chr2	81157534	81157535	rs1826411	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p12	NR	rs1826411-?	NR	2E-7	(AA)	1.4592	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1204	chr2	81184768	81184769	rs7598737	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	2p12	NR	rs7598737-?	NR	7E-6		4.596	[2.68-6.52] unit decrease	Illumina [498648]	N
1205	chr2	81295336	81295337	rs113626797	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p12	NR	rs113626797-?	NR	5E-7	(AA)	1.4247	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1207	chr2	81574757	81574758	rs10208516	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	2p12	CTNNA2	rs10208516-?		7E-6				Affymetrix, Illumina [1348798]	N
1208	chr2	81668807	81668808	rs10496265	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	2p12	intergenic	rs10496265-?	NR	1E-8	(age at natural menopause)			Affymetrix [70897]	N
1208	chr2	81751123	81751124	rs10496262	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	2p12	intergenic	rs10496262-?	NR	3E-7	(age at natural menopause)			Affymetrix [70897]	N
1209	chr2	81822180	81822181	rs17020489	25042611	Griffin PJ	2014-07-19	Am J Hematol	The Genetics of Hemoglobin A2 Regulation in Sickle Cell Anemia.	Hemoglobin A2 levels in sickle cell anemia	618 African American cases	173 African American cases, 398 Chinese ancestry individuals	2p12	NR	rs17020489-A	0.3	3E-6	(AA)			Illumina [NR]	N
1209	chr2	81855724	81855725	rs6736587	24124408	Hong KW	2013-09-30	Genomics Inform	Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.	Orthostatic hypotension	667 Korean ancestry cases,  5,761 Korean ancestry controls	NA	2p12	CTNNA2	rs6736587-C	0.16	5E-8	(Delta SBP)	1.38	[NR] mmHg decrease	Affymetrix [333651]	N
1209	chr2	81856525	81856526	rs12615721	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	2p12	intergenic	rs12615721-?	NR	8E-6	(FEV1 decline in asthmatics)	0.3026	[0.17-0.44] unit decrease	Illumina [~ 2500000] (imputed)	N
1209	chr2	81872921	81872922	rs12052359	22085899	Chen G	2011-11-16	Eur J Hum Genet	UGT1A1 is a major locus influencing bilirubin levels in African Americans.	Bilirubin levels	619 African American individuals	NA	2p12	AC013262.1	rs12052359-A	0.062	7E-6		0.224	[0.127-0.321] unit increase	Affymetrix [808465]	N
1213	chr2	82352496	82352497	rs73939615	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p12	NR	rs73939615-?	NR	1E-6	(Latino)	1.2363	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1218	chr2	83029468	83029469	rs17022444	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	2p12	intergenic	rs17022444-?	NR	1E-10	(SAS)			Affymetrix [492000]	N
1220	chr2	83292564	83292565	rs10496288	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	2p12	intergenic	rs10496288-?,rs10496289-?	(GC)	2E-9				Affymetrix [405022]	N
1220	chr2	83293379	83293380	rs10496289	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	2p12	intergenic	rs10496288-?,rs10496289-?	(GC)	2E-9				Affymetrix [405022]	N
1227	chr2	84245167	84245168	rs13398848	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	2p11.2	intergenic	rs13398848-G	0.181	1E-6	(AA)	0.168	[NR] unit increase	Illumina [948658]	N
1227	chr2	84245167	84245168	rs13398848	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	2p11.2	intergenic	rs13398848-G	0.074	5E-6		1.59	[1.30-1.95]	Illumina [948658]	N
1227	chr2	84246585	84246586	rs1447537	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	2p11.2	intergenic	rs1447537-A	0.31	4E-6		0.15	[0.09-0.21] unit decrease	Illumina [~ 318327]	N
1228	chr2	84350916	84350917	rs1534238	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	2p11.2	intergenic	rs1534238-?	0.381	3E-6	(clozapine-triglycerides)			Affymetrix [492900]	N
1229	chr2	84444885	84444886	rs6547537	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p11.2	NR	rs6547537-G	0.784824532589286	4E-6	(IGP36)	0.1881	[0.11-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
1231	chr2	84709214	84709215	rs7581224	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	2p11.2	SUCLG1	rs7581224-T	0.14	2E-6	(AA)	0.2	[0.12-0.28] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1232	chr2	84906914	84906915	rs1918690	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	2p11.2	DNAH6	rs1918690-T	0.208	4E-9		1.27	[NR]	Illumina [8207076] (imputed)	N
1237	chr2	85545489	85545490	rs7428	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear protrusion	4,919 Latin American individuals	NA	2p11.2	NR	rs7428-?	NR	8E-7	(FDR adjusted)			Illumina [671038]	N
1238	chr2	85699749	85699750	rs7577642	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	2p11.2	SH2D6	rs7577642-?	0.27	7E-6	(sIL-6R)			Illumina [496032]	N
1238	chr2	85705676	85705677	rs11688246	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	2p11.2	NR	rs11688246-?	0.052	1E-7		1.832	[1.469-2.285] unit increase	Illumina [563945]	N
1239	chr2	85794296	85794297	rs10187424	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	2p11.2	NR	rs10187424-A	0.58	5E-6	(European)	1.11	[1.06-1.16]	Affymetrix [up to 19977088] (imputed)	N
1239	chr2	85794296	85794297	rs10187424	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	2p11.2	NR	rs10187424-A	0.58	3E-9		1.13	[1.08-1.17]	Affymetrix [up to 19977088] (imputed)	N
1239	chr2	85794296	85794297	rs10187424	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	2p11.2	GGCX, VAMP8, VAMP5, RNF181	rs10187424-A	0.59	3E-15		1.09	[1.06-1.12]	NR [2600000] (imputed)	N
1239	chr2	85806067	85806068	rs3731827	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	2p11.2	NR	rs3731827-T	0.584	1E-9		1.13	[1.09-1.18]	Affymetrix [up to 19977088] (imputed)	N
1243	chr2	86360572	86360573	rs2241437	21130132	Mick E	2010-12-01	Prog Neuropsychopharmacol Biol Psychiatry	Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.	Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)	140 child cases	NA	2p11.2	PTCD3	rs2241437-C	0.016	3E-6				Affymetrix [316934]	N
1247	chr2	86841068	86841069	rs745109	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2p11.2	NR	rs745109-?	NR	8E-7		0.155	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1247	chr2	86860630	86860631	rs114532231	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	2p11.2	intergenic	rs114532231-T	0.008	2E-6		0.684	[0.4-0.96] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1248	chr2	86974317	86974318	rs12997796	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2p11.2	NR	rs12997796-A	NR	2E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1249	chr2	87044315	87044316	rs6547705	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	2p11.2	CD8B	rs6547705-?	0.23	1E-8	(controlling for rs7571971)	1.28	[1.18-1.40]	Illumina [531451]	N
1257	chr2	88166460	88166461	rs9636470	22488850	Zuo L	2012-04-04	Am J Med Genet B Neuropsychiatr Genet	Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls, 449 African American cases, 480 African American controls	NA	2p11.2	RGPD2	rs9636470-?	NR	3E-8				Illumina [805814]	N
1258	chr2	88315792	88315793	rs12714207	19414484	Johnson AD	2009-05-04	Hum Mol Genet	Genome-wide association meta-analysis for total serum bilirubin levels.	Bilirubin levels	9,464 individuals	NA	2p11.2	KRCC1	rs12714207-T	0.32	5E-7		0.03	[0.01-0.05] umol/l decrease in log(tbil)	Affymetrix, Illumina [2555103] (imputed)	N
1259	chr2	88388537	88388538	rs2919856	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2p11.2	NR	rs2919856-T	0.545002280178174	2E-6	(IGP9)	0.1475	[0.087-0.208] unit increase	Illumina [~ 2500000] (imputed)	N
1260	chr2	88518439	88518440	rs7589728	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	2p11.2	THNSL2	rs7589728-?		5E-6				Illumina [5970354] (imputed)	N
1261	chr2	88659587	88659588	rs1659258	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2p11.2	THNSL2	rs1659258-A	0.92	2E-8	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1263	chr2	88895350	88895351	rs7571971	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	2p11.2	EIF2AK3	rs7571971-?	0.74	4E-13		1.33	[1.22-1.43]	Illumina [531451]	N
1263	chr2	88913272	88913273	rs867529	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2p11.2	EIF2AK3	rs867529-C	0.46	2E-14		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1263	chr2	88924621	88924622	rs11684404	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2p11.2	EIF2AK3	rs11684404-T	0.661	9E-25		0.032	[0.026-0.038] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1263	chr2	88924621	88924622	rs11684404	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2p11.2	EIF2AK3	rs11684404-T	0.67	1E-13		0.028	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1284	chr2	91697807	91697808	rs191753171	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	2p11.2	NR	rs191753171-?	NR	4E-6				NR [up to 8466825] (imputed)	N
1323	chr2	96841792	96841793	rs11886999	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	2q11.2	STARD7	rs11886999-T	NR	8E-6	(Continous Variable)	0.04	[0.02-0.06] ug/L increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1326	chr2	97228038	97228039	rs4907240	21184583	Zlojutro M	2010-11-02	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.	Event-related brain oscillations	431 European ancestry alcohol dependence cases, 340 European ancestry controls, 209 African American alcohol dependence cases, 84 African American controls	683 alcohol dependence cases and 412 controls from multiplex families	2q11.2	ARID5A	rs4907240-A	0.23	4E-6		0.254	[0.14-0.36] uV increase	Illumina [951071]	N
1328	chr2	97405439	97405440	rs2271893	22182935	Chen DT	2011-12-20	Mol Psychiatry	Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.	Bipolar disorder	5,568 European ancestry cases, 7,187 European ancestry controls, 1,000 Taiwanese ancestry cases, 1,000 Taiwanese ancestry controls	1,115 European ancestry cases, 2,728 European ancestry controls	2q11.2	LMAN2L	rs2271893-G	NR	2E-10				Affymetrix, Illumina [748555]	N
1328	chr2	97410948	97410949	rs6746896	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	2q11.2	LMAN2L, FER1L5, CNNM4	rs6746896-A	NR	2E-6		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
1328	chr2	97413487	97413488	rs2314398	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	2q11.2	intergenic	rs2314398-?	0.69	3E-6		1.17	[NR]	Affymetrix [1769948] (imputed)	N
1328	chr2	97500774	97500775	rs78381888	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q11.2	NR	rs78381888-A	NR	2E-7		1.09	[NR]	Illumina [7158791] (imputed)	N
1328	chr2	97500799	97500800	rs9948	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	2q11.2	CNNM3	rs9948-?	0.31	6E-6		4.9	[NR]	Affymetrix [512497]	N
1331	chr2	97886294	97886295	rs9631085	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q11.2	NR	rs9631085-A	NR	2E-6		1.13	[NR]	Illumina [7158791] (imputed)	N
1340	chr2	99083891	99083892	rs12617721	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	2q11.2	INPP4A	rs12617721-C	NR	7E-6		1.2	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1342	chr2	99239930	99239931	rs12618769	21738484	Smith EN	2011-06-30	PLoS Genet	Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.	Bipolar disorder	1,190 European and unknown ancestry cases, 401 European and unknown ancestry controls	16,179 individuals	2q11.2	MGAT4A	rs12618769-T	NR	1E-6		1.25	[NR]	Affymetrix [703019]	N
1342	chr2	99304793	99304794	rs885036	26222057	Pander J	2015-07-29	PLoS One	Genome Wide Association Study for Predictors of Progression Free Survival in Patients on Capecitabine, Oxaliplatin, Bevacizumab and Cetuximab in First-Line Therapy of Metastatic Colorectal Cancer.	Progression free survival in metastatic colorectal cancer (treatment interaction)	256 cases treated with CAPOX-B plus cetuximab, 264 cases treated with CAPOX-B	NA	2q11.2	GnT-IVa	rs885036-A		2E-8		2.13	[1.64-2.78]	Illumina [2850023] (imputed)	N
1343	chr2	99382891	99382892	rs7578035	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	2q11.2	MRPL30, MITD1, MGAT4A, LYG1, LYG2, LIPT1, EIF5B, C2orf55, C2orf15, TXNDC9, TSGA10, REV1	rs7578035-G	NR	3E-6		1.09	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
1343	chr2	99465501	99465502	rs6733011	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	2q11.2	intergenic	rs6733011-G	0.46	3E-6		1.17	[1.10-1.25]	Affymetrix, Illumina [2366197] (imputed)	N
1346	chr2	99876243	99876244	rs2200578	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q11.2	NR	rs2200578-C	0.788386317008014	4E-7	(IGP15)	0.1902	[0.12-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1350	chr2	100360349	100360350	rs7601137	25353672	Fernandez-Navarro P	2014-10-29	Int J Cancer	Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.	Mammographic density	239 European ancestry low mammographic density females, 239 European ancestry high mammographic density females	NA	2q11.2	NR	rs7601137-T	0.848	9E-6		2.32	[1.58-3.41]	Illumina [575374]	N
1351	chr2	100460653	100460654	rs7583877	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	2q11.2	AFF3	rs7583877-C	0.30	3E-7	(ESRD)	1.29	[1.17-1.42]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1351	chr2	100460653	100460654	rs7583877	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	2q11.2	AFF3	rs7583877-C	0.29	1E-8	(ESRD vs. non-ESRD)	1.29	[1.18-1.40]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1354	chr2	100806513	100806514	rs6712515	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2q11.2	intergenic	rs6712515-T	0.471	2E-9		0.026	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1354	chr2	100806939	100806940	rs11676922	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	952 Han Chinese ancestry cases, 943 Han Chinese ancestry controls	5,539 European ancestry cases, 20,169 European ancestry controls	2q11.2	AFF3	rs11676922-T		2E-8		1.133	[NR]	Affymetrix [1497047] (imputed)	N
1354	chr2	100806939	100806940	rs11676922	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	2q11.2	AFF3	rs11676922-T	0.46	1E-14		1.12	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1354	chr2	100818478	100818479	rs4851266	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 101,069 European ancestry individuals	25,490 European ancestry individuals	2q11.2	LOC150577	rs4851266-T	0.396	5E-11	(College)	1.05	[NR]	Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)	N
1354	chr2	100825366	100825367	rs9653442	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q11.2	AFF3	rs9653442-C	0.46	2E-18		1.11	[1.09-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1354	chr2	100825366	100825367	rs9653442	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q11.2	AFF3	rs9653442-C	0.46	1E-14	(EA)	1.12	[1.09-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1354	chr2	100825366	100825367	rs9653442	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	2q11.2	AFF3, LOC150577	rs9653442-G	0.46	5E-6		1.11	[1.05-1.17]	Affymetrix [NR]	N
1354	chr2	100835733	100835734	rs10865035	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	2q11.2	AFF3	rs10865035-A	0.47	2E-6		1.12	[1.07-1.17]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1358	chr2	101322308	101322309	rs2970992	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2q11.2	NPAS2, NMS	rs2970992-A	0.493	8E-6		0.02	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1358	chr2	101347300	101347301	rs182466621	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q11.2	NR	rs182466621-?	NR	8E-7	(AA)	1.3747	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1358	chr2	101347300	101347301	rs182466621	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q11.2	NR	rs182466621-?	NR	2E-7	(AA)	1.2926	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1358	chr2	101424330	101424331	rs7565981	22137330	Sanchez-Juan P	2011-11-30	Neurobiol Aging	Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.	Creutzfeldt-Jakob disease (variant)	93 European ancestry cases, 1,504 European ancestry controls	42 European ancestry cases	2q11.2	NPAS2	rs7565981-?	NR	4E-8		2.98	[2.03-4.35]	Affymetrix [287554]	N
1360	chr2	101592060	101592061	rs60866311	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q11.2	NR	rs60866311-?	NR	9E-7	(Latino)	0.7469	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1360	chr2	101668856	101668857	rs2278729	20548944	Hsu YH	2010-06-10	PLoS Genet	An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.	Osteoporosis-related phenotypes	2,038 European ancestry female individuals, 1,531 European ancestry male individuals	5,595 European ancestry female individuals, 2,126 European ancestry male individuals	2q11.2	TBC1D8	rs2278729-A	0.33	1E-7	(NSA, men)	0.19	[NR] unit decrease	Affymetrix [433510]	N
1362	chr2	101922169	101922170	rs6711606	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	2q11.2	RNF149	rs6711606-A	0.12	4E-6	(recessive)	2.81	[1.81-4.37]	Illumina [420236]	N
1363	chr2	101983661	101983662	rs4352251	26299439	Li WD	2015-08-24	Sci Rep	Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.	Adiponectin levels	737 European ancestry females	NA	2q11.2	CREG2	rs4352251-?		3E-6				Illumina [up to 550000]	N
1363	chr2	102029645	102029646	rs12620464	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	2q11.2	NR	rs12620464-?	0.143	1E-6		1.397	[1.221-1.579] unit increase	Illumina [563945]	N
1367	chr2	102613012	102613013	rs4321386	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Hormone measurements	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	2q11.2	NR	rs4321386-G	0.34	9E-8	(Testosterone)			Illumina [709211]	N
1368	chr2	102662887	102662888	rs10185424	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q11.2	NR	rs10185424-A	0.4604	1E-14	(EA)	1.1014192	[1.08-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1368	chr2	102662887	102662888	rs10185424	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q11.2	NR	rs10185424-A	0.4604	3E-9	(EA)	1.0748146	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1368	chr2	102663627	102663628	rs2310173	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	2q11.2	MAP4K4, IL1R2	rs2310173-T		3E-6	(Modelling analysis)	1.06	[1.03-1.08]	NR [1252901] (imputed)	N
1368	chr2	102663627	102663628	rs2310173	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	2q11.2	IL1R2	rs2310173-T	0.46	3E-12		1.09	[1.05-1.14]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1368	chr2	102663627	102663628	rs2310173	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	2q11.2	IL1R2	rs2310173-A	0.45	5E-7		1.18	[1.10-1.27]	Illumina [288662]	N
1368	chr2	102726660	102726661	rs12712127	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	2q12.1	IL1R1, IL1R2	rs12712127-A	0.41	3E-8	(EA)	0.006	[0.004-0.008] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
1368	chr2	102751649	102751650	rs6759556	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	2q12.1	IL1R1	rs6759556-A	NR	8E-6		4.478	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1369	chr2	102776201	102776202	rs13019803	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL1R1	rs13019803-T	0.11	6E-20		0.14	[0.1-0.18] unit decrease	Affymetrix [2500000] (imputed)	N
1369	chr2	102810167	102810168	rs1558648	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL1RL2	rs1558648-G	0.12	4E-16		0.13	[0.091-0.169] unit decrease	Affymetrix [2500000] (imputed)	N
1369	chr2	102851707	102851708	rs2302612	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL1RL2	rs2302612-C	0.17	2E-11		0.08	[0.06-0.1] unit decrease	Affymetrix [2500000] (imputed)	N
1369	chr2	102875586	102875587	rs1345301	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist circumference	Up to 23,564 African American individuals	Up to 10,027 African American individuals	2q12.1	IL1RL1, IL1RL2	rs1345301-A	0.75	5E-6	(men)	0.08	[0.041-0.119] unit increase	Affymetrix, Illumina [3200000] (imputed)	N
1369	chr2	102879463	102879464	rs10189629	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	2q12.1	IL1RL1, IL1RL2	rs10189629-A	0.1450	2E-16		0.1448	[0.11-0.18] unit decrease	Illumina [2400000] (imputed)	N
1370	chr2	102915661	102915662	rs11693697	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL1RL1	rs11693697-C	0.22	7E-11		0.08	[0.06-0.1] unit decrease	Affymetrix [2500000] (imputed)	N
1370	chr2	102932561	102932562	rs950880	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL1RL1	rs950880-A	0.39	7E-94		0.18	[0.16-0.20] unit decrease	Affymetrix [2500000] (imputed)	N
1370	chr2	102945415	102945416	rs76886731	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	2q12.1	IL18R1, IL18RAP	rs76886731-T	0.448	2E-23		1.24	[NR]	Illumina [4577171] (imputed)	N
1370	chr2	102948631	102948632	rs1420103	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL1RL1	rs1420103-A	0.23	1E-35		0.13	[0.11-0.15] unit increase	Affymetrix [2500000] (imputed)	N
1370	chr2	102953443	102953444	rs17639215	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL1RL1	rs17639215-A	0.13	2E-30		0.15	[0.13-0.17] unit increase	Affymetrix [2500000] (imputed)	N
1370	chr2	102953616	102953617	rs3771180	21804549	Torgerson DG	2011-07-31	Nat Genet	Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.	Asthma	2,088 European ancestry cases, 1,612 African American and African Caribbean cases, 1,688 Hispanic cases	2,727 European ancestry cases, 2,147 African American and African Caribbean cases, 2,299 Hispanic cases	2q12.1	IL1RL1	rs3771180-?	NR	2E-15				Affymetrix, Illumina [> 2000000] (imputed)	N
1370	chr2	102955081	102955082	rs13408661	23028483	Ramasamy A	2012-09-28	PLoS One	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Asthma	1,716 European ancestry cases, 16,888 European ancestry controls	4,035 European ancestry cases, 11,251 European ancestry controls	2q12.1	IL18R1, IL1RL1	rs13408661-G	0.84	1E-9		1.23	[1.15-1.31]	Affymetrix, Illumina [~ 2200000] (imputed)	N
1370	chr2	102957290	102957291	rs13029918	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL1RL1	rs13029918-G	0.05	2E-39		0.29	[0.25-0.33] unit decrease	Affymetrix [2500000] (imputed)	N
1370	chr2	102957715	102957716	rs1420101	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	2q12.1	IL1RL1	rs1420101-A	0.41	5E-14	(EA)	6.4	[4.7-8.1] % standard unit increase	Illumina [312179]	N
1370	chr2	102960209	102960210	rs3771175	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	2q12.1	IL18R1, IL1RL1, IL18RAP	rs3771175-T	0.86	5E-11		1.2	[1.14-1.28]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1370	chr2	102965391	102965392	rs12999542	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL1RL1	rs12999542-C	0.11	2E-27		0.15	[0.13-0.17] unit decrease	Affymetrix [2500000] (imputed)	N
1370	chr2	102966548	102966549	rs10197862	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	2q12.1	IL1RL1	rs10197862-A	0.85	4E-11		1.24	[1.16-1.32]	Illumina [up to 4972397] (imputed)	N
1370	chr2	102971199	102971200	rs9807989	22561531	Wan YI	2012-05-05	Thorax	Genome-wide association study to identify genetic determinants of severe asthma.	Asthma	933 European ancestry cases, 3,346 European ancestry controls	231 European ancestry cases, 1,345 European ancestry controls	2q12.1	IL18R1, IL1R1	rs9807989-?	NR	6E-8		1.33	[1.20-1.47]	Illumina [6103628] (imputed)	N
1370	chr2	102971864	102971865	rs13015714	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	2q12.1	IL18R1, IL1RL1, IL18RAP	rs13015714-G	0.412	8E-18		1.27	[1.20-1.34]	Illumina [606164]	N
1370	chr2	102971864	102971865	rs13015714	18311140	Hunt KA	2008-03-02	Nat Genet	Newly identified genetic risk variants for celiac disease related to the immune response.	Celiac disease	767 European ancestry cases, 1,422 European ancestry controls	1,643 European ancestry cases, 3,406 European ancestry controls	2q12.1	IL18R1, IL1RL1, SLC9A4, IL18RAP	rs13015714-C	NR	4E-9		1.28	[1.18-1.39]	Illumina [310605]	N
1370	chr2	102984278	102984279	rs1420098	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q12.1	NR	rs1420098-?	NR	2E-20	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1370	chr2	102986221	102986222	rs3771166	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	2q12.1	IL18R1	rs3771166-G	0.62	3E-9		1.15	[1.10-1.20]	Illumina [582892]	N
1371	chr2	103054448	103054449	rs2058660	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	2q12.1	IL12RL2, IL18R1, IL1RL1, IL18RAP	rs2058660-G	0.231	2E-12		1.19	[1.14-1.26]	Affymetrix, Illumina [953241] (imputed)	N
1371	chr2	103054766	103054767	rs11465699	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	IL18RAP	rs11465699-A	0.06	2E-8		0.14	[0.1-0.18] unit increase	Affymetrix [2500000] (imputed)	N
1371	chr2	103063368	103063369	rs6708413	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q12.1	NR	rs6708413-G	0.2376	9E-14	(EA)	1.0917488	[1.07-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1371	chr2	103063368	103063369	rs6708413	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q12.1	NR	rs6708413-G	0.2376	3E-16	(EA)	1.1225724	[1.09-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1371	chr2	103070567	103070568	rs917997	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2q12.1	IL18R1, IL1RL1, IL1R1, IL1RL2, IL18RAP, IL1R2	rs917997-T	0.231	3E-20		1.103	[1.067-1.14]	Affymetrix, Illumina [1230000] (imputed)	N
1371	chr2	103070567	103070568	rs917997	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	2q12.1	IL18R1, IL1RL1, IL1RL2, IL18RAP	rs917997-A	0.24	1E-15		1.19	[1.14-1.25]	Illumina [292387]	N
1371	chr2	103091539	103091540	rs17027258	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	2q12.1	SLC9A4	rs17027258-G	0.37	7E-6	(eosinophil count)	0.055	[0.04-0.08] unit decrease	Illumina [2178645] (imputed)	N
1371	chr2	103149099	103149100	rs1014286	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	2q12.1	SLC9A4	rs1014286-G	0.36	3E-33		0.11	[0.09-0.13] unit increase	Affymetrix [2500000] (imputed)	N
1373	chr2	103335440	103335441	rs33993717	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	2q12.1	MFSD9	rs33993717-?	NR	5E-6	(SF4)			Affymetrix [5476100] (imputed)	N
1373	chr2	103388593	103388594	rs12465996	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q12.1	NR	rs12465996-C	0.864479920980926	5E-6	(IGP1)	0.2431	[0.14-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
1373	chr2	103388593	103388594	rs12465996	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q12.1	NR	rs12465996-C	0.864380324681238	5E-6	(IGP41)	0.2423	[0.14-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
1374	chr2	103426176	103426177	rs2540277	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q12.1	NR	rs2540277-C	NR	7E-6		1.098901	[NR]	Illumina [7158791] (imputed)	N
1374	chr2	103512291	103512292	rs13402330	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	2q12.1	SCL9A2, MFSD9	rs13402330-A	0.19	6E-6	(AA-glucose response)	5.27	[3-7.54] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1375	chr2	103576087	103576088	rs12105421	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	2q12.1	intergenic	rs12105421-?		5E-7				Affymetrix [545513]	N
1376	chr2	103770237	103770238	rs6735786	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (hip)	6,865 European ancestry individuals	8,510 European ancestry individuals	2q12.1	NR	rs6735786-C	0.64	2E-6		0.07	[0.04-0.09] s.d. decrease	Illumina [305051]	N
1378	chr2	104036432	104036433	rs13390641	24903457	Kim YK	2014-06-05	BMC Med Genet	Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions.	Blood pressure (anthropometric measures interaction)	7,486 Korean ancestry individuals	4,544 East Asian ancestry individuals	2q12.1	TMEM182	rs13390641-A	0.11	5E-8	(SBP, BMI interaction)	0.59	[0.37-0.81] unit increase	Affymetrix [1573409] (imputed)	N
1380	chr2	104298540	104298541	rs264943	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	2q12.1	intergenic	rs264943-?	NR	7E-6				Illumina [990115]	N
1382	chr2	104573004	104573005	rs2119507	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	2q12.1	NR	rs2119507-T		4E-6				Illumina [2373249] (imputed)	N
1382	chr2	104578532	104578533	rs1036736	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	2q12.1	NR	rs1036736-T		4E-6				Illumina [2373249] (imputed)	N
1382	chr2	104580502	104580503	rs12613775	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	2q12.1	NR	rs12613775-T		4E-6				Illumina [2373249] (imputed)	N
1382	chr2	104587350	104587351	rs10193430	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	2q12.1	NR	rs10193430-A		4E-6				Illumina [2373249] (imputed)	N
1382	chr2	104589137	104589138	rs11903187	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	2q12.1	NR	rs11903187-A		4E-6				Illumina [2373249] (imputed)	N
1383	chr2	104667737	104667738	rs6758152	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	2q12.1	NR	rs6758152-T		3E-6				Illumina [2373249] (imputed)	N
1384	chr2	104808711	104808712	rs11890236	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q12.1	intergenic	rs11890236-G	0.035	9E-6	(Diet fat )	0.02	[NR] %energy increase	Illumina [899892]	N
1385	chr2	104983266	104983267	rs7570682	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	2q12.1	NR	rs7570682-?	NR	3E-6	(addtive)			Affymetrix [NR]	N
1387	chr2	105158637	105158638	rs17624523	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	2q12.1	POU3F3	rs17624523-?	NR	8E-6				Affymetrix, Illumina [~ 1300000]	N
1388	chr2	105378956	105378957	rs12615966	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	2q12.1	LOC284998	rs12615966-A	0.10	7E-6	(recessive)	3.15	[1.91-5.21]	Illumina [420236]	N
1392	chr2	105837597	105837598	rs6712932	17668382	Salonen JT	2007-06-26	Am J Hum Genet	Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.	Type 2 diabetes	201 Finland founder cases, 200 Finland founder controls, 200 Ashkenazi Jewish cases, 197 Ashkenazi Jewish controls, 99 European ancestry cases, 100 European ancestry controls	2,573 European ancestry cases, 2,776 European ancestry controls	2q12.1	intergenic	rs6712932-?	NR	6E-6		1.52	[1.27-1.82]	Illumina [315917]	N
1392	chr2	105864825	105864826	rs6758290	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2q12.1	GPR45	rs6758290-T	0.5	7E-13		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1392	chr2	105877869	105877870	rs17636747	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	2q12.1	TGFBRAP1	rs17636747-?	NR	4E-6	(Hispanic)	8.35	[3.41-20.46]	Illumina [2485249] (imputed)	N
1392	chr2	105897739	105897740	rs1020064	19754311	Le Clerc S	2009-09-15	J Infect Dis	Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).	AIDS	85 European ancestry cases, 2,049 European ancestry controls	NA	2q12.1	TGFBRAP1	rs1020064-G	0.77	7E-6		2.94	[1.75-5.00]	Illumina [291119]	N
1393	chr2	105910512	105910513	rs1030877	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q12.1	TGFBRAP1	rs1030877-G	0.35	6E-6	(IGFBP-1 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1397	chr2	106431855	106431856	rs6747023	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106433477	106433478	rs7589342	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106436365	106436366	rs12995333	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106437255	106437256	rs4851870	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106438935	106438936	rs1465641	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106439180	106439181	rs1465639	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106440058	106440059	rs6741172	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106443110	106443111	rs12995849	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106445280	106445281	rs2163350	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106454084	106454085	rs7589561	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106455548	106455549	rs4851095	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106457290	106457291	rs2377339	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs2377339-G	.0159	2E-8	(codependence - African ancestry men - adjusted analysis)			Illumina [859185]	N
1397	chr2	106457290	106457291	rs2377339	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs2377339-G	.0159	1E-11	(Opiates - African ancestry men - allelic test)	13.87	NR unit increase	Illumina [859185]	N
1397	chr2	106457290	106457291	rs2377339	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1397	chr2	106457647	106457648	rs2163349	23533358	Liu Z	2013-02-28	ScientificWorldJournal	NCK2 is significantly associated with opiates addiction in African-origin men.	Addiction	1,393 European ancestry females, 1,131 European ancestry males, 568 African ancestry females, 535 African ancestry males	NA	2q12.2	NCK2	rs12043259-?,rs6747023-?,rs7589342-?,rs12995333-?,rs4851870-?,rs1465641-?,rs1465639-?,rs6741172-?,rs12995849-?,rs2163350-?,rs7589561-?,rs4851095-?,rs2377339-?,rs2163349-?	NR	2E-11	(AGTTCAGATCTCGT - Opiates)			Illumina [859185]	N
1398	chr2	106615273	106615274	rs1669539	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	2q12.2	NCK2, C2orf40	rs1669539-T	0.74	1E-6		1.52	[0.89-2.15] mmHg increase	Illumina [1019297] (imputed)	N
1398	chr2	106642553	106642554	rs34487851	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	2q12.2	intergenic	rs34487851-G	0.7314	4E-6	(Ordinal II)	0.2523	[0.14-0.36] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1398	chr2	106642553	106642554	rs34487851	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	2q12.2	intergenic	rs34487851-G	0.7353	4E-6	(Case/control)	0.4143	[0.24-0.59] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1398	chr2	106642553	106642554	rs34487851	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	2q12.2	intergenic	rs34487851-G	0.7349	1E-6	(Ordinal)	0.297	[0.18-0.42] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1398	chr2	106642553	106642554	rs34487851	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	2q12.2	intergenic	rs34487851-G	0.7378	5E-6	(Complete)	0.4164	[0.24-0.6] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1406	chr2	107649439	107649440	rs12622528	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	2q12.3	NR	rs12622528-?	NR	2E-6		7.531	[4.55-10.51] unit decrease	Illumina [498648]	N
1406	chr2	107678487	107678488	rs1357692	22832961	Kamboh MI	2012-05-15	Transl Psychiatry	Genome-wide association study of Alzheimer's disease.	Alzheimer's disease	1,291 European ancestry cases, 938 European ancestry controls	509 European ancestry cases, 753 European ancestry controls, 2,218 cases, 2,583 controls	2q12.3	intergenic	rs1357692-?	NR	9E-6		1.16	[NR]	Illumina [2543888] (imputed)	N
1415	chr2	108884041	108884042	rs4638749	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	2q12.3	SULT1C3	rs4638749-G	0.76	6E-7	(EA, DBP, Age 60-69)	0.81	[0.5-1.12] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1415	chr2	108916043	108916044	rs4149423	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe size	4,919 Latin American individuals	NA	2q12.3	NR	rs4149423-?	NR	1E-7	(FDR adjusted)			Illumina [671038]	N
1416	chr2	108997261	108997262	rs4149433	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe attachment	4,919 Latin American individuals	NA	2q12.3	NR	rs4149433-?	NR	3E-7	(FDR adjusted)			Illumina [671038]	N
1416	chr2	108997261	108997262	rs4149433	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Helix rolling	4,919 Latin American individuals	NA	2q12.3	NR	rs4149433-?	NR	4E-8	(FDR adjusted)			Illumina [671038]	N
1416	chr2	108997261	108997262	rs4149433	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear protrusion	4,919 Latin American individuals	NA	2q12.3	NR	rs4149433-?	NR	2E-7	(FDR adjusted)			Illumina [671038]	N
1420	chr2	109513600	109513601	rs3827760	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe size	4,919 Latin American individuals	NA	2q13	EDAR	rs3827760-G	0.4	1E-12		0.117	unit decrease	Illumina [671038]	N
1420	chr2	109513600	109513601	rs3827760	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe attachment	4,919 Latin American individuals	NA	2q13	EDAR	rs3827760-G	0.4	2E-9		0.066	unit decrease	Illumina [671038]	N
1420	chr2	109513600	109513601	rs3827760	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Helix rolling	4,919 Latin American individuals	NA	2q13	EDAR	rs3827760-G	0.4	1E-12		0.103	unit decrease	Illumina [671038]	N
1420	chr2	109513600	109513601	rs3827760	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear protrusion	4,919 Latin American individuals	NA	2q13	EDAR	rs3827760-G	0.40	1E-10		0.108	unit decrease	Illumina [671038]	N
1420	chr2	109513600	109513601	rs3827760	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear morphology	4,919 Latin American individuals	NA	2q13	EDAR	rs3827760-G	0.4	1E-11				Illumina [671038]	N
1421	chr2	109599255	109599256	rs260674	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Tragus size	4,919 Latin American individuals	NA	2q13	NR	rs260674-?	NR	7E-7	(FDR adjusted)			Illumina [671038]	N
1421	chr2	109635256	109635257	rs4676049	20885792	Naj AC	2010-09-23	PLoS Genet	Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.	Alzheimer's disease (late onset)	931 cases, 1,104 controls	1,338 cases, 2,003 controls	2q13	intergenic	rs4676049-A	0.08	4E-8		1.76	[1.44-2.15]	Illumina [483399]	N
1426	chr2	110284235	110284236	rs9330316	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q13	SEPT10, SOWAHC	rs9330316-A	NR	5E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
1427	chr2	110381571	110381572	rs10496434	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Helix rolling	4,919 Latin American individuals	NA	2q13	NR	rs10496434-?	NR	9E-7	(FDR adjusted)			Illumina [671038]	N
1427	chr2	110399822	110399823	rs7580778	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe size	4,919 Latin American individuals	NA	2q13	NR	rs7580778-?	NR	7E-7	(FDR adjusted)			Illumina [671038]	N
1436	chr2	111599705	111599706	rs4849121	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	2q13	ACOXL	rs4849121-G	NR	4E-7		1.15	[1.09-1.22]	Illumina [444882]	N
1436	chr2	111607831	111607832	rs6732565	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q13	ACOXL	rs6732565-A	0.62	9E-9	(EA)	1.1	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1436	chr2	111607831	111607832	rs6732565	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q13	ACOXL	rs6732565-A	0.61	3E-8		1.07	[1.05-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1436	chr2	111616103	111616104	rs13401811	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	2q13	ACOXL, BCL2L11	rs13401811-G	0.81	2E-18		1.41	[1.30-1.52]	Illumina [549934]	N
1437	chr2	111707404	111707405	rs3789119	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	2q13	ACOXL	rs3789119-T	NR	4E-6		0.136	[0.079-0.193] unit decrease	Illumina [628922]	N
1437	chr2	111711088	111711089	rs2341917	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	2q13	ACOXL	rs2341917-G	0.145	3E-7	(IIV)	0.29	[0.17-0.41] unit increase	Illumina [799713]	N
1437	chr2	111711088	111711089	rs2341917	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	2q13	ACOXL	rs2341917-G	0.145	2E-6	(HRTSE)	1.17	[0.68-1.66] unit increase	Illumina [799713]	N
1437	chr2	111728481	111728482	rs4849303	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	2q13	ACOXL	rs4849303-?	0.47-0.54	1E-6	(Vegetable)	1.12	[1.08-1.18]	Affymetrix, Illumina [> 2700000] (imputed)	N
1437	chr2	111797457	111797458	rs17483466	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	2q13	ACOXL	rs17483466-G	0.2	4E-17		1.37	[NR]	Illumina [549934]	N
1437	chr2	111797457	111797458	rs17483466	22700719	Slager SL	2012-06-13	Blood	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,121 European ancestry cases, 3,745 European ancestry controls	861 European ancestry cases, 2,033 European ancestry controls	2q13	NR	rs17483466-?	0.80	5E-9		1.43	[1.27-1.61]	Affymetrix, Illumina [~ 1500000] (imputed)	N
1437	chr2	111797457	111797458	rs17483466	18758461	Di Bernardo MC	2008-08-31	Nat Genet	A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	505 European ancestry cases, 1,438 European ancestry controls	1,024 European ancestry cases, 1,677 European ancestry controls	2q13	ACOXL, BCL2L11	rs17483466-G	0.20	2E-10		1.39	[1.25-1.53]	Illumina [345665]	N
1437	chr2	111797530	111797531	rs3789080	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	2q13	ACOXL	rs3789080-?	NR	4E-6	(rs7127900)	1.4085	[1.22-1.64]	Affymetrix, Illumina [1117531] (imputed)	N
1438	chr2	111836537	111836538	rs7578982	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	2q13	ACOXL	rs7578982-T	0.55	4E-7	(monocyte count)	0.054	[0.03-0.07] unit increase	Illumina [2178645] (imputed)	N
1438	chr2	111849658	111849659	rs10207392	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	2q13	ACOXL	rs10207392-G	0.44	4E-11	(EA, MCV)	0.132	[0.083-0.181] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1438	chr2	111871896	111871897	rs1439287	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	2q13	ACOXL, BCL2L11	rs1439287-A	0.48	5E-15		1.37	[NR]	Illumina [450000] (imputed)	N
1439	chr2	111949326	111949327	rs6738028	21533175	Zhai G	2011-04-14	PLoS Genet	Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.	Dehydroepiandrosterone sulphate levels	14,846 European ancestry individuals	NA	2q13	BCL2L11	rs6738028-G	0.40	2E-8		0.04	[0.02-0.06] umol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1439	chr2	111989371	111989372	rs6720394	21151127	Melum E	2010-12-12	Nat Genet	Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.	Primary sclerosing cholangitis	715 European ancestry cases, 2,962 European ancestry controls	1,025 European ancestry cases, 2,174 European ancestry controls	2q13	BCL2L11	rs6720394-?	0.11	4E-8		1.29	[1.10-1.51]	Affymetrix [2466182] (imputed)	N
1439	chr2	112003866	112003867	rs2271404	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	2q13	LOC100505634	rs2271404-G	0.238	3E-7		1.17	[1.10-1.25]	Illumina [606164]	N
1442	chr2	112375962	112375963	rs1448190	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q13	ANAPC1	rs1448190-A	0.381	8E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1443	chr2	112470154	112470155	rs11122895	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	2q13	ANAPC1	rs11122895-T	0.39	2E-6		1.09	[1.05-1.13]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1443	chr2	112500034	112500035	rs17040773	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	2q13	ANAPC1	rs17040773-A	0.76	2E-9	(FNBMD)	0.04	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1444	chr2	112665200	112665201	rs17174870	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	2q13	MERTK	rs17174870-G	NR	1E-8		1.11	[1.09-1.13]	Illumina [465434]	N
1445	chr2	112770769	112770770	rs4374383	22841784	Patin E	2012-07-26	Gastroenterology	Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.	Hepatitis C induced liver fibrosis	1,161 European ancestry HCV-infected individuals	1,181 European ancestry HCV-infected individuals	2q13	MERTK	rs4374383-A	0.42	1E-9	(Duration F0-1/F3-4, transfused)			Illumina [780650] (imputed)	N
1451	chr2	113529182	113529183	rs6542095	20844546	Adachi S	2010-09-16	J Hum Genet	Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population.	Endometriosis	696 Japanese ancestry cases, 825 Japanese ancestry controls	NA	2q14.1	IL1A	rs6542095-C	0.72	3E-6		1.5	[1.27-1.78]	Affymetrix [282838]	N
1451	chr2	113529239	113529240	rs11677416	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	2q14.1	IL1A	rs11677416-?	0.25	7E-7	(olanzapine)			Affymetrix [492900]	N
1452	chr2	113663872	113663873	rs2708973	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	2q14.1	IL37	rs2708973-?		3E-6	(EA)	31.7	[NR]	Illumina [936149]	N
1452	chr2	113683874	113683875	rs10864907	23932459	Yao TC	2013-08-06	J Allergy Clin Immunol	Genome-wide association study of lung function phenotypes in a founder population.	Pulmonary function	1,144 Hutterite individuals	NA	2q14.1	IL37	rs10864907-?	NR	7E-6	(FEV1)			Affymetrix [246010]	N
1452	chr2	113691403	113691404	rs12467847	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	2q14.1	intergenic	rs12467847-?	NR	5E-6	(SF4)			Affymetrix [5476100] (imputed)	N
1453	chr2	113832311	113832312	rs6761276	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	2q14.1	IL1RN	rs6761276-?	0.37	7E-6	(IL1RA)			Illumina [496032]	N
1453	chr2	113832332	113832333	rs6743376	24182552	Matteini AM	2013-10-29	Cytokine	Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.	Inflammatory biomarkers	4,443 European ancestry older adult individuals	NA	2q14.1	IL1F10	rs6743376-A	0.43	2E-26	(IL-1ra)	0.13	[0.11-0.15] unit increase	Illumina [2543887] (imputed)	N
1453	chr2	113841029	113841030	rs6734238	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	2q14.1	NR	rs6734238-?	NR	2E-8		0.0117	[0.0076-0.0158] unit decrease	Illumina [NR] (imputed)	N
1453	chr2	113841029	113841030	rs6734238	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	2q14.1	IL1RN, IL1F10	rs6734238-A	0.58	6E-19	(EA)	0.009	[0.007-0.011] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
1453	chr2	113841029	113841030	rs6734238	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	2q14.1	IL1RN, IL1F10	rs6734238-G	0.446	9E-10	(AA women)	0.108	[0.073-0.143] unit decrease	Affymetrix [up to 2203609] (imputed)	N
1453	chr2	113841029	113841030	rs6734238	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	2q14.1	IL1F10	rs6734238-G	NR	2E-17		0.05	[0.04-0.06] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1453	chr2	113847627	113847628	rs11681884	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	2q14.1	IL1RN, IL1F10, IL36RN	rs11681884-T	0.43	6E-7		0.24	[0.14-0.34] unit decrease	Affymetrix, Illumina [up to 2600000] (imputed)	N
1453	chr2	113890372	113890373	rs4252023	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q14.1	IL1RN	rs4252023-A	0.058	2E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1454	chr2	113972944	113972945	rs752590	26075790	Kelemen LE	2015-06-15	Nat Genet	Genome-wide significant risk associations for mucinous ovarian carcinoma.	Mucinous ovarian carcinoma	1,003 European ancestry invasive cases, 641 European ancestry low malignant potential cases, 21,693 European ancestry controls	NA	2q14.1	PAX8	rs752590-?	0.21	3E-8		1.34	[1.21-1.49]	Illumina [15504273] (imputed)	N
1454	chr2	113978939	113978940	rs11123170	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	2q14.1	PAX8	rs11123170-G	0.35	3E-10		0.0051	[0.0035-0.0067] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
1454	chr2	114016400	114016401	rs72831838	26075790	Kelemen LE	2015-06-15	Nat Genet	Genome-wide significant risk associations for mucinous ovarian carcinoma.	Mucinous ovarian carcinoma	1,003 European ancestry invasive cases, 641 European ancestry low malignant potential cases, 21,693 European ancestry controls	NA	2q14.1	PAX8	rs72831838-?	0.14	8E-7	(Invasive Only)	1.39	[1.22-1.58]	Illumina [15504273] (imputed)	N
1455	chr2	114090411	114090412	rs1823125	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	2q14.1	PAX8, LOC101927400, CBWD2	rs1823125-G	0.26	1E-10		3.14	[NR] unit increase	Affymetrix, Illumina [2033301]	N
1462	chr2	114980966	114980967	rs3105491	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	2q14.1	ACTR3, DPP10	rs3105491-T	0.3	2E-6		1.52	[0.89-2.15] mmHg increase	Illumina [1019297] (imputed)	N
1462	chr2	115049817	115049818	rs4513299	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	2q14.1	intergenic	rs4513299-?	NR	4E-6	(Interleukin-6)			Affymetrix [2543887] (imputed)	N
1464	chr2	115213755	115213756	rs17048372	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	2q14.1	DPP10	rs17048372-?		2E-6	(overall survival)	1.91	[1.46-2.48]	Illumina [729737]	N
1464	chr2	115213755	115213756	rs17048372	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	2q14.1	DPP10	rs17048372-?		6E-6	(overall survival)	2.17	[1.55-3.03]	Illumina [729737]	N
1466	chr2	115586938	115586939	rs6732028	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q14.1	DPP10	rs6732028-G	0.247	3E-6	(Birth weight )	0.06	[NR] kg increase	Illumina [899892]	N
1471	chr2	116241185	116241186	rs1375144	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	2q14.1	NR	rs1375144-?	NR	2E-6	(addtive)			Affymetrix [NR]	N
1473	chr2	116491245	116491246	rs4308128	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide attempts in major depressive disorder	257 European ancestry cases, 300 European ancestry controls	NA	2q14.1	DPP10	rs4308128-A	0.43	4E-6		1.795	[1.401-2.300]	Illumina [794207]	N
1475	chr2	116655794	116655795	rs272000	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	2q14.1	intergenic	rs272000-?	NR	9E-6	(count)			Perlegen [429981]	N
1476	chr2	116829400	116829401	rs12623360	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	2q14.1	DPP10, DDX18	rs12623360-C	0.07	6E-6	(Men)	0.024764845	[0.014-0.035] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1490	chr2	118687231	118687232	rs11888485	21775986	Hinch AG	2011-07-20	Nature	The landscape of recombination in African Americans.	Recombination measurement	30,033 African American individuals	NA	2q14.1	CCDC93	rs11888485-?	0.92	3E-8	(African-enrichment)			Affymetrix, Illumina [3058149] (imputed)	N
1491	chr2	118835840	118835841	rs10490626	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2q14.1	INSIG2	rs10490626-A	0.08	2E-12		0.051	[NR] unit decrease	NR [NR] (imputed)	N
1491	chr2	118835840	118835841	rs10490626	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	2q14.1	INSIG2	rs10490626-A	0.08	6E-9		0.042	[NR] unit increase	NR [NR] (imputed)	N
1492	chr2	118889228	118889229	rs6726538	24700089	Miura K	2014-04-04	J Med Virol	Genome-wide association study of HPV-associated cervical cancer in Japanese women.	Cervical cancer	226 Japanese ancestry cases, 186 Japanese ancestry controls	NA	2q14.2	intergenic	rs6726538-A	0.3871	3E-6		1.946	[1.471-2.573]	Affymetrix [556045]	N
1493	chr2	119038597	119038598	rs1878526	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	2q14.2	INSIG2	rs1878526-A	0.22	1E-10	(LSBMD)	0.04	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1495	chr2	119395690	119395691	rs651477	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	2q14.2	EN1	rs651477-?	0.26	7E-6		1.38	[NR]	Illumina [551642]	N
1499	chr2	119845316	119845317	rs17189298	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal T-tau levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	2q14.2	intergenic	rs17189298-A	NR	3E-7	(Controls)			Illumina [498205]	N
1500	chr2	119936682	119936683	rs12623976	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	2q14.2	C1QL2	rs12623976-A	NR	8E-6		4.469	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1500	chr2	120023691	120023692	rs72840936	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	2q14.2	STEAP3	rs72840936-?	NR	3E-6	(EA)			Illumina [37426733] (imputed)	N
1501	chr2	120145654	120145655	rs1374313	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q14.2	DBI	rs1374313-G	0.343	9E-7	(Diet fat )	0.03	[NR] g/d increase	Illumina [899892]	N
1502	chr2	120321816	120321817	rs2587695	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	2q14.2	MGC33657	rs2587695-?	NR	3E-7				Affymetrix [504219]	N
1503	chr2	120328863	120328864	rs139257032	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	2q14.2	PCDP1	rs139257032-T	0.02	3E-7	(EA)	3.35	[2.12-5.30]	Illumina [NR] (imputed)	N
1504	chr2	120513132	120513133	rs13401620	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	2q14.2	EPB41L5	rs13401620-A	0.224	2E-6		0.095	[0.056-0.134] cup size decrease	Illumina [7422970] (imputed)	N
1506	chr2	120748570	120748571	rs11685222	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		2q14.2	intergenic	rs11685222-?	NR	4E-6		1.98	[NR]	Illumina [up to 810372] (imputed)	N
1508	chr2	121089730	121089731	rs17625845	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	2q14.2	INHBB	rs17625845-C	.205	5E-10		0.125	[.086-.164] cup size increase	Illumina [7422970] (imputed)	N
1509	chr2	121195180	121195181	rs7581710	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	2q14.2	INHBB	rs7581710-?	NR	2E-7	(WHR)			Illumina [~ 550000]	N
1510	chr2	121245121	121245122	rs4849887	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	2q14.2	intergenic	rs4849887-C	0.902	4E-11		1.1	[1.06-1.14]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1510	chr2	121245121	121245122	rs4849887	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	2q14.2	INHBB, GLI2, LOC84931	rs4849887-T	0.113	3E-11		0.166	[0.12-0.22] cup size increase	Illumina [7422970] (imputed)	N
1510	chr2	121282629	121282630	rs17050244	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	2q14.2	INHBB, GLI2	rs17050244-?	0.11	5E-7		1.28	[1.16-1.41]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1510	chr2	121301910	121301911	rs6721654	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	2q14.2	INHBB, GLI2	rs6721654-T	0.08	7E-6	(EA)	1.26	[1.14-1.40]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1510	chr2	121306439	121306440	rs17050272	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	2q14.2	INHBB	rs17050272-A	0.43	2E-10		0.035	[0.023-0.047] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1510	chr2	121309487	121309488	rs2030746	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2q14.2	LOC84931	rs2030746-T	0.4	9E-9		0.021	[NR] unit increase	NR [NR] (imputed)	N
1512	chr2	121612658	121612659	rs2166898	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2q14.2	GLI2	rs2166898-A	0.08	6E-8		0.052	[0.03-0.074] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1512	chr2	121620827	121620828	rs4143116	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q14.2	GLI2, FLJ14816, TFCP2L1	rs4143116-A	0.197	4E-6		2.28	[1.59-3.25]	Illumina [1556551]	N
1513	chr2	121701288	121701289	rs11122834	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	2q14.2	GLI2	rs11122834-?	0.29	5E-6		4.93	[NR]	Affymetrix [512497]	N
1514	chr2	121812223	121812224	rs4848143	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	2q14.2	intergenic	rs4848143-?	NR	9E-6				NR [~ 2000000]	N
1515	chr2	122018762	122018763	rs17006292	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	2q14.2	TFCP2L1	rs17006292-?	0.925	5E-9		4.17	[2.50-5.00]	Affymetrix [661736]	N
1524	chr2	123126478	123126479	rs10496584	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	2q14.3	intergenic	rs10496584-G	0.11	4E-6		158.69	[NR] unit increase	Illumina [2380200] (imputed)	N
1524	chr2	123127788	123127789	rs2037892	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	2q14.3	intergenic	rs2037892-A	0.11	5E-6		156.7	[NR] unit increase	Illumina [2380200] (imputed)	N
1524	chr2	123136889	123136890	rs1919922	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	2q14.3	intergenic	rs1919922-T	0.11	5E-6		155.52	[NR] unit increase	Illumina [2380200] (imputed)	N
1524	chr2	123141544	123141545	rs4848768	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	2q14.3	intergenic	rs4848768-G	0.11	6E-6		154.6	[NR] unit increase	Illumina [2380200] (imputed)	N
1525	chr2	123224399	123224400	rs4848780	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	2q14.3	TSN	rs4848780-T	0.335	8E-7	(Gliadin)	0.21	[NR] unit decrease	Illumina [944565] (imputed)	N
1525	chr2	123225622	123225623	rs17007761	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	2q14.3	LOC728241	rs17007761-A		1E-8	(AA)			Illumina [NR]	N
1525	chr2	123230796	123230797	rs2219089	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q14.3	NR	rs2219089-T	NR	8E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1525	chr2	123291021	123291022	rs1527243	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	2q14.3	TSN	rs1527243-?	0.43	1E-6		6.67	[NR]	Affymetrix [512497]	N
1528	chr2	123641610	123641611	rs17367118	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	2q14.3	intergenic	rs17367118-?	NR	9E-6	(count)			Perlegen [429981]	N
1534	chr2	124515040	124515041	rs13006237	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	2q14.3	NR	rs13006237-A		9E-6				Illumina [2373249] (imputed)	N
1538	chr2	124983055	124983056	rs1170612	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	2q14.3	CNTNAP5	rs1170612-?	NR	9E-6	(All)	1.37	[NR]	Illumina [up to 531195]	N
1538	chr2	124983055	124983056	rs1170612	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	2q14.3	CNTNAP5	rs1170612-?	NR	6E-6	(EA)	1.4	[NR]	Illumina [up to 531195]	N
1538	chr2	124998363	124998364	rs1367248	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	2q14.3	CNTNAP5	rs1367248-?	NR	3E-6	(CF-PWVLTA)			Affymetrix [70897]	N
1540	chr2	125256735	125256736	rs11899928	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q14.3	NR	rs11899928-C	0.0215231680017802	9E-6	(IGP14)	0.685	[0.38-0.99] unit increase	Illumina [~ 2500000] (imputed)	N
1540	chr2	125256735	125256736	rs11899928	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q14.3	NR	rs11899928-C	0.0215231680017802	3E-6	(IGP67)	0.7169	[0.42-1.02] unit increase	Illumina [~ 2500000] (imputed)	N
1540	chr2	125256735	125256736	rs11899928	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q14.3	NR	rs11899928-C	0.0215184841870824	8E-6	(IGP63)	0.6871	[0.39-0.99] unit decrease	Illumina [~ 2500000] (imputed)	N
1540	chr2	125281909	125281910	rs17727261	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	2q14.3	CNTNAP5	rs17727261-?	NR	5E-7	(risperidone)	10.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
1540	chr2	125291836	125291837	rs13021885	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q14.3	NR	rs13021885-C	0.932509117935024	8E-6	(IGP57)	0.3904	[0.22-0.56] unit decrease	Illumina [~ 2500000] (imputed)	N
1541	chr2	125327949	125327950	rs2901331	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	2q14.3	CNTNAP5	rs2901331-A	0.31	6E-6	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
1556	chr2	127330953	127330954	rs1550404	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	2q14.3	GYPC	rs1550404-?	NR	1E-6	(high intelligence)	7.05	[4.23-9.87] unit increase	Illumina [795637]	N
1557	chr2	127452763	127452764	rs10184704	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Pyoderma gangrenosum in inflammatory bowel disease	92 European ancestry cases, 5,664 European ancestry controls	NA	2q14.3	GYPC	rs10184704-C	NR	6E-6		2.3	[1.60-3.30]	Illumina [2017629] (imputed)	N
1558	chr2	127662896	127662897	rs13418717	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	2q14.3	LOC339760	rs13418717-?	0.20	3E-6	(AA)	1.46	[0.97-2.20]	Affymetrix, Illumina [2478304] (imputed)	N
1559	chr2	127758447	127758448	rs12993006	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	2q14.3	BIN1	rs12993006-T	0.21	4E-6		1.45	[1.349-1.56]	Illumina [NR]	N
1560	chr2	127852020	127852021	rs10207628	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	2q14.3	BIN1	rs10207628-?	0.81	1E-6		1.4084507	[NR]	Illumina [1847262] (imputed)	N
1560	chr2	127859412	127859413	rs10166461	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	2q14.3	BIN1	rs10166461-A	0.1733	4E-6	(Ordinal II)	0.2636	[0.15-0.38] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1560	chr2	127887984	127887985	rs12989701	21390209	Hu X	2011-02-24	PLoS One	Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	1,831 European ancestry cases, 1,764 European ancestry controls	751 cases, 751 controls	2q14.3	BIN1	rs12989701-?	NR	3E-10		1.23	[NR]	Affymetrix, Illumina [NR] (imputed)	N
1560	chr2	127889636	127889637	rs7561528	22832961	Kamboh MI	2012-05-15	Transl Psychiatry	Genome-wide association study of Alzheimer's disease.	Alzheimer's disease	1,291 European ancestry cases, 938 European ancestry controls	509 European ancestry cases, 753 European ancestry controls, 2,218 cases, 2,583 controls	2q14.3	BIN1	rs7561528-?	NR	6E-11		1.25	[NR]	Illumina [2543888] (imputed)	N
1560	chr2	127889636	127889637	rs7561528	21460841	Naj AC	2011-04-03	Nat Genet	Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	8,309 European ancestry cases, 7,366 European ancestry controls	10,523 European ancestry cases, 28,231 European ancestry controls	2q14.3	BIN1	rs7561528-A	0.35	4E-14		1.17	[1.13-1.22]	Affymetrix, Illumina [2324889] (imputed)	N
1560	chr2	127891426	127891427	rs4663105	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	2q14.3	BIN1	rs4663105-C	0.43	2E-12		1.19	[1.13-1.24]	NR [NR]	N
1560	chr2	127892809	127892810	rs6733839	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	2q14.3	BIN1	rs6733839-T	0.41	1E-9		1.2	[1.13-1.27]	NR [NR]	N
1560	chr2	127892809	127892810	rs6733839	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	2q14.3	BIN1	rs6733839-T	0.43	3E-6	(Primary)	0.3288	[0.19-0.47] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1560	chr2	127892809	127892810	rs6733839	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	2q14.3	BIN1	rs6733839-T	0.409	7E-44		1.22	[1.18-1.25]	Illumina [7055881] (imputed)	N
1560	chr2	127894614	127894615	rs744373	21627779	Antunez C	2011-05-31	Genome Med	The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.	Alzheimer's disease	319 European ancestry cases, 769 European ancestry controls, 2,690 cases, 2,237 controls	4,982 European ancestry cases, 7,961 European ancestry controls, 2,190 cases, 3,374 controls	2q14.3	BIN1	rs744373-?	NR	2E-9		1.18	[NR]	Affymetrix, Illumina [696707] (imputed)	N
1560	chr2	127894614	127894615	rs744373	21460840	Hollingworth P	2011-04-03	Nat Genet	Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.	Alzheimer's disease	6,688 European ancestry cases, 13,685 European ancestry controls	13,182 European ancestry cases, 26,161 European ancestry controls	2q14.3	BIN1	rs744373-?	0.29	3E-14		1.17	[1.12-1.21]	Affymetrix, Illumina [496763]	N
1560	chr2	127894614	127894615	rs744373	21390209	Hu X	2011-02-24	PLoS One	Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	1,831 European ancestry cases, 1,764 European ancestry controls	751 cases, 751 controls	2q14.3	BIN1	rs744373-?	NR	1E-10		1.19	[NR]	Affymetrix, Illumina [NR] (imputed)	N
1561	chr2	127950996	127950997	rs4321325	25376901	Munir MS	2014-11-05	Genet Epidemiol	Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.	Protein C levels	2,701 African American individuals	NA	2q14.3	CYP27C1	rs4321325-?	NR	4E-9	(Conditioned on rs7580658 and rs1799808)	0.2	[NR] unit increase	Affymetrix [2649157]	N
1561	chr2	127982644	127982645	rs7567389	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	2q14.3	CYP27C1	rs7567389-A	0.30	2E-6		0.03	[NR] unit decrease	Illumina [2380486] (imputed)	N
1562	chr2	128159260	128159261	rs7580658	25376901	Munir MS	2014-11-05	Genet Epidemiol	Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.	Protein C levels	2,701 African American individuals	NA	2q14.3	PROC	rs7580658-A	0.23	2E-12		0.15	[0.11-0.19] unit increase	Affymetrix [2649157]	N
1562	chr2	128176039	128176040	rs1799810	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	2q14.3	intergenic	rs1799810-T	0.41	9E-6		0.02	[NR] unit decrease	Illumina [2380486] (imputed)	N
1562	chr2	128177376	128177377	rs1158867	20802025	Tang W	2010-08-27	Blood	Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.	Protein C levels	8,048 European ancestry individuals	1,376 European ancestry individuals	2q14.3	PROC	rs1158867-C	0.42	4E-36		0.12	[0.10-0.14] ug/ml decrease	Affymetrix [2461269]	N
1563	chr2	128256056	128256057	rs334147	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2q14.3	intergenic	rs334147-T	0.929	9E-6		0.046	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1564	chr2	128351503	128351504	rs13419716	25376901	Munir MS	2014-11-05	Genet Epidemiol	Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.	Protein C levels	2,701 African American individuals	NA	2q14.3	MYO7B	rs13419716-?	NR	4E-9	(Conditioned on rs7580658 and rs1799808)	0.26	[NR] unit increase	Affymetrix [2649157]	N
1564	chr2	128396166	128396167	rs78022502	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		2q14.3	LIMS2	rs78022502-?	0.06	2E-6		0.23	unit decrease	Illumina [NR] (imputed)	N
1564	chr2	128421244	128421245	rs73954691	25483131	Ghassibe-Sabbagh M	2014-12-08	Sci Rep	T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.	Type 2 diabetes	1,384 Lebanese ancestry cases, 1,902 Lebanese ancestry controls	NA	2q14.3	LIMS2	rs73954691-G	0.98	3E-6		2.6	[1.74-3.88]	Illumina [5891794] (imputed)	N
1565	chr2	128502584	128502585	rs17015535	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	2q14.3	WDR33	rs17015535-A	0.91	6E-6	(AA)	0.38	[0.2-0.56] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1565	chr2	128519796	128519797	rs13013415	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second to forced vital capacity ratio)	1,015 European ancestry individuals, 541 African American individuals	NA	2q14.3	NR	rs13013415-?		3E-6	(AA)			Illumina [up to 524000]	N
1569	chr2	129029401	129029402	rs7561107	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q14.3	NR	rs7561107-?	NR	3E-6	(Latino)	1.0082	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1570	chr2	129143953	129143954	rs7565310	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	2q14.3	Intergenic	rs7565310-A	0.38	9E-6	(Trend model)	1.53	[1.27-1.84]	Illumina [508761]	N
1572	chr2	129478841	129478842	rs4662834	21106707	Gu J	2010-11-24	Hum Mol Genet	A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity.	Response to bleomycin (chromatid breaks)	673 European ancestry individuals	834 European ancestry individuals	2q14.3	NR	rs4662834-A	0.41	5E-6		0.08	[0.04-0.11] unit decrease	Illumina [539437]	N
1573	chr2	129504350	129504351	rs7561966	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		2q14.3	HS6ST1	rs7561966-A	NR	3E-6		0.6809	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1573	chr2	129542766	129542767	rs11690256	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	2q14.3	NR	rs11690256-T	0.349	2E-6		0.099	[0.058-0.14] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1574	chr2	129677414	129677415	rs115944785	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q14.3	NR	rs115944785-?	NR	2E-6	(EA)	0.402	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1576	chr2	129994331	129994332	rs1660895	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	2q21.1	NR	rs1660895-A	0.47	7E-7		1.3	[1.20-1.40]	Illumina [4058415] (imputed)	N
1577	chr2	130034011	130034012	rs837841	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)	147 Japanese ancestry cases, 233 Japanese ancestry controls	NA	2q21.1	LOC151121	rs837841-T	0.662	8E-6	(Recessive model)	1.279	[0.930-1.759]	Illumina [733202]	N
1577	chr2	130034325	130034326	rs7567687	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	2q21.1	RAB6C	rs7567687-?	0.47	8E-6	(Age 20-60 years)	1.32	[1.18-1.49]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1577	chr2	130034325	130034326	rs7567687	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	2q21.1	RAB6C	rs7567687-?	0.46	8E-7	(Age 20-81 years)	1.32	[1.18-1.47]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1578	chr2	130216042	130216043	rs4662945	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	2q21.1	LOC151121	rs4662945-?		3E-6				Affymetrix, Illumina [1348798]	N
1580	chr2	130467856	130467857	rs10189546	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	2q21.1	intergenic	rs10189546-G	0.88	2E-6		0.059	unit increase	Illumina [~ 6300000] (imputed)	N
1580	chr2	130468365	130468366	rs10928927	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	2q21.1	intergenic	rs10928927-T	0.84	3E-7		0.057	unit increase	Illumina [~ 6300000] (imputed)	N
1580	chr2	130469240	130469241	rs4662984	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	2q21.1	intergenic	rs4662984-A	0.84	2E-7		0.057	unit increase	Illumina [~ 6300000] (imputed)	N
1580	chr2	130469907	130469908	rs4662986	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	2q21.1	intergenic	rs4662986-G	0.84	2E-7		0.058	unit increase	Illumina [~ 6300000] (imputed)	N
1580	chr2	130473221	130473222	rs13408379	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	2q21.1	intergenic	rs13408379-G	0.85	2E-7		0.059	unit increase	Illumina [~ 6300000] (imputed)	N
1580	chr2	130505888	130505889	rs13035304	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	2q21.1	intergenic	rs13035304-G	0.88	5E-6		0.063	unit increase	Illumina [~ 6300000] (imputed)	N
1582	chr2	130757303	130757304	rs13020137	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	2q21.1	NR	rs13020137-A	NR	5E-6		1.26	[NR]	Illumina [up to 9792010] (imputed)	N
1588	chr2	131545191	131545192	rs13395546	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	2q21.1	CYCSP8	rs13395546-A		1E-6		0.16	[0.10-0.23] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1589	chr2	131724904	131724905	rs4377367	26222057	Pander J	2015-07-29	PLoS One	Genome Wide Association Study for Predictors of Progression Free Survival in Patients on Capecitabine, Oxaliplatin, Bevacizumab and Cetuximab in First-Line Therapy of Metastatic Colorectal Cancer.	Progression free survival in metastatic colorectal cancer (CAPOX-B vs CAPOX-B plus cetuximab)	256 cases treated with CAPOX-B plus cetuximab, 264 cases treated with CAPOX-B	NA	2q21.1	ARHGEF4	rs4377367-C	NR	6E-6		1.5873016	[1.32-1.92]	Illumina [2850023] (imputed)	N
1596	chr2	132582510	132582511	rs12470837	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels in APOEe4+ carriers	177 Alzheimer's disease cases, 103 controls	NA	2q21.2	LOC647996	rs12470837-?	NR	1E-6		0.468	[NR] decrease	Illumina [5970354] (imputed)	N
1596	chr2	132582510	132582511	rs12470837	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	2q21.2	LOC647996	rs12470837-?		1E-6		0.336	[NR] unit decrease	Illumina [5970354] (imputed)	N
1600	chr2	133144391	133144392	rs16831128	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	2q21.2	intergenic	rs16831128-G	0.189	5E-6		0.08	[NR] unit increase	Illumina [948658]	N
1600	chr2	133144391	133144392	rs16831128	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	2q21.2	intergenic	rs16831128-G	0.189	4E-7		1.45	[1.26-1.67]	Illumina [948658]	N
1601	chr2	133188105	133188106	rs13420028	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	2q21.2	GPR39	rs13420028-?,rs10188442-?	(AA)	1E-10				Affymetrix [405022]	N
1601	chr2	133189238	133189239	rs10188442	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	2q21.2	GPR39	rs13420028-?,rs10188442-?	(AA)	1E-10				Affymetrix [405022]	N
1602	chr2	133303537	133303538	rs3109133	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	2q21.2	GPR39	rs3109133-C	0.091	1E-6		0.00315	[0.0019-0.0044] unit decrease	Affymetrix [1219546] (imputed)	N
1604	chr2	133631057	133631058	rs180692175	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	2q21.2	NR	rs180692175-G	0.024	9E-6		3.94	[2.15-7.22]	Illumina [7261187] (imputed)	N
1605	chr2	133746629	133746630	rs1437898	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (age of onset)	978 European ancestry cases, 883 European ancestry controls	NA	2q21.2	FLJ34870	rs1437898-?	0.40	8E-6			[NR]	Illumina [551642]	N
1607	chr2	134005568	134005569	rs10496702	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	2q21.2	NAP5	rs10496702-?	NR	7E-7		1.3968	[NR]	Affymetrix [722112]	N
1607	chr2	134040518	134040519	rs7577925	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	2q21.2	FLJ34870	rs7577925-?	NR	3E-6	(binary)			Perlegen [429981]	N
1609	chr2	134230216	134230217	rs1821625	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		2q21.2	NAP5	rs1821625-?		7E-6	(Cluxel size)			Illumina [208975]	N
1609	chr2	134266000	134266001	rs16826005	23646285	Khor SS	2013-04-16	PeerJ	Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.	Hypersomnia (HLA-DQB1*06:02 negative)	125 Japanese ancestry cases, 562 Japanese ancestry controls		2q21.2	NCKAP5	rs16826005-G	0.319	1E-7	(recessive)	3.52	[2.17-5.70]	Affymetrix [508366] (imputed)	N
1609	chr2	134332760	134332761	rs7588354	25649651	Wang X	2015-02-03	J Alzheimers Dis	Genetic Determinants of Survival in Patients with Alzheimer's Disease.	Alzheimer's disease (survival time)	983 cases	NA	2q21.2	NCKAP5	rs7588354-?		1E-6		1.5151515	[NR]	Illumina [803323]	N
1610	chr2	134363031	134363032	rs7588567	22419738	Osman W	2012-03-22	Hum Mol Genet	A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.	Glaucoma (primary open-angle)	1,394 Japanese ancestry cases, 6,599 Japanese ancestry controls	1,802 Japanese ancestry cases, 7,212 Japanese ancestry controls	2q21.2	NCKAP5	rs7588567-G	0.586	4E-7		1.18	[1.10-1.25]	Illumina [602216]	N
1610	chr2	134434823	134434824	rs7567288	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2q21.2	NCKAP5	rs7567288-T	0.8	2E-12		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1610	chr2	134437958	134437959	rs1901440	22293537	Kiyotani K	2012-01-29	Pharmacogenet Genomics	A genome-wide association study identifies four genetic markers for hematological toxicities in cancer patients receiving gemcitabine therapy.	Response to gemcitabine in pancreatic cancer	21 Japanese ancestry adverse reaction cases, 58 Japanese ancestry non-adverse reaction individuals	33 Japanese ancestry adverse reaction cases, 62 Japanese ancestry non-adverse reaction individuals	2q21.2	intergenic	rs1901440-C	0.20	3E-6	(Recessive)	34.0	[4.29-269.48]	Illumina [470064]	N
1610	chr2	134455239	134455240	rs17818859	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	2q21.2	intergenic	rs17818859-C	0.9858	7E-6	(Ordinal I)	2.5604	[1.45-3.68] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1611	chr2	134529090	134529091	rs6722456	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		2q21.2	NAP5	rs6722456-A	0.023	4E-8		0.048	[0.031-0.065] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1613	chr2	134840966	134840967	rs6430491	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q21.2	NR	rs6430491-G	NR	2E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1613	chr2	134864343	134864344	rs10179986	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2q21.2	intergenic	rs10179986-?		8E-6	(M)	17.78	[10.16-25.4] unit decrease	Illumina [693128]	N
1615	chr2	135068793	135068794	rs4953911	20117844	Brynedal B	2010-02-01	J Neuroimmunol	MGAT5 alters the severity of multiple sclerosis.	Multiple sclerosis (severity)	1,040 European ancestry cases	873 European ancestry cases	2q21.3	MGAT5	rs4953911-T	0.36	2E-7				Affymetrix [105035]	N
1616	chr2	135143286	135143287	rs12467609	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2q21.3	MGAT5	rs12467609-T	0.64	7E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1616	chr2	135214569	135214570	rs10179686	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Large artery stroke	2,167 cases, 49,159 controls	NA	2q21.3	TMEM163	rs10179686-T		8E-6		1.69	[1.34-2.13]	Affymetrix, Illumina [~ 2400000] (imputed)	N
1618	chr2	135479979	135479980	rs6723108	23209189	Tabassum R	2012-12-03	Diabetes	Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.	Type 2 diabetes	1,101 Indo-European ancestry cases, 1,027 Indo-European ancestry controls	3,607 Indo-European ancestry cases, 2,924 Indo-European ancestry controls, 1,184 Dravidian ancestry cases, 1,061 Dravidian ancestry controls, 11,285 European ancestry cases, 11,285 European ancestry controls	2q21.3	TMEM163	rs6723108-T	0.86	7E-8	(All South Asians)	1.27	[1.17-1.39]	Illumina [536420]	N
1619	chr2	135539966	135539967	rs6430538	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	2q21.3	ACMSD, TMEM163	rs6430538-C	0.57	9E-20		1.1429	[1.11-1.17]	Illumina [7893274] (imputed)	N
1619	chr2	135539966	135539967	rs6430538	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	2q21.3	intergenic	rs6430538-?	NR	2E-7		1.15	[NR]	Illumina [2500000] (imputed)	N
1619	chr2	135592380	135592381	rs6710823	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	2q21.3	ACMSD	rs6710823-G	0.46	7E-9		1.1	[1.06-1.14]	Illumina [7689524] (imputed)	N
1619	chr2	135599875	135599876	rs10198552	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q21.3	ACMSD	rs10198552-G	0.025	7E-7	(AST )	0.04	[NR] U/L increase	Illumina [899892]	N
1619	chr2	135631399	135631400	rs6430553	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q21.3	ACMSD	rs6430553-T	0.39	6E-12	(X-12095--N1-methyl-3-pyridone-4-carboxamide)	0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1619	chr2	135632980	135632981	rs4954192	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q21.3	ACMSD, TMEM163, CCNT2	rs4954192-A	0.41	6E-7		2.36	[1.67-3.34]	Illumina [1556551]	N
1621	chr2	135803424	135803425	rs4954218	21979947	Li X	2011-10-06	Hum Mol Genet	A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.	Corneal structure	222 European ancestry cases, 3,324 European ancestry controls	304 European ancestry cases, 518 European ancestry controls, 146 European ancestry cases and 161 European ancestry controls from 70 families	2q21.3	RAB3GAP1	rs4954218-?	NR	1E-9		1.61		Illumina [~ 290000]	N
1621	chr2	135837905	135837906	rs7570971	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q21.3	RAB3GAP1	rs7570971-C	0.64	2E-6	(EA)	0.017	[0.0098-0.0232] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1621	chr2	135837905	135837906	rs7570971	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q21.3	RAB3GAP1	rs7570971-C	0.627	1E-6		0.016	[0.0099-0.0229] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1621	chr2	135837905	135837906	rs7570971	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q21.3	RAB3GAP1	rs7570971-A	0.33	8E-45	(1,5-anhydroglucitol (1,5-AG))	0.037	[0.031-0.043] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1621	chr2	135837905	135837906	rs7570971	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	2q21.3	RAB3GAP1	rs7570971-A	0.35	1E-13		0.03	[NR] unit increase	NR [NR] (imputed)	N
1621	chr2	135837905	135837906	rs7570971	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	2q21.3	RAB3GAP1	rs7570971-T	0.31	1E-8		1.18	[0.75-1.61] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1626	chr2	136506926	136506927	rs6430585	21979947	Li X	2011-10-06	Hum Mol Genet	A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.	Corneal structure	222 European ancestry cases, 3,324 European ancestry controls	304 European ancestry cases, 518 European ancestry controls, 146 European ancestry cases and 161 European ancestry controls from 70 families	2q21.3	UBXD2	rs6430585-?	NR	1E-6		1.39		Illumina [~ 290000]	N
1626	chr2	136522940	136522941	rs28453840	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	2q21.3	RAB3GAP1	rs28453840-G	0.21	3E-9		0.046	[0.03-0.062] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1626	chr2	136545298	136545299	rs16832011	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	2q21.3	LCT	rs16832011-A	NR	3E-7	(ALA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
1627	chr2	136608645	136608646	rs4988235	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q21.3	MCM6	rs4988235-A	0.66	5E-6	(EA)	0.016	[0.0091-0.0225] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1627	chr2	136608645	136608646	rs4988235	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q21.3	MCM6	rs4988235-A	0.646	2E-6		0.016	[0.0094-0.0224] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1628	chr2	136802455	136802456	rs72974161	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q21.3	intergenic	rs72974161-A	0.102	2E-7		2.83	[1.88-4.26]	Illumina [1556551]	N
1630	chr2	136976254	136976255	rs882300	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	2q22.1	CXCR4	rs882300-C	0.61	1E-7		1.19	[1.09-1.30]	Affymetrix, Illumina [~ 2560000] (imputed)	N
1630	chr2	136976254	136976255	rs882300	17903306	Newton-Cheh C	2007-09-19	BMC Med Genet	Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.	Electrocardiographic traits	1,951 European ancestry individuals from 355 families	NA	2q22.1	intergenic	rs882300-?	NR	3E-7	(PR interval)			Affymetrix [70897]	N
1630	chr2	137015990	137015991	rs4452212	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	2q22.1	CXCR4	rs4452212-A	NR	2E-6		0.05	[0.03-0.07] kb decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1632	chr2	137338939	137338940	rs934299	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	2q22.1	intergenic	rs934299-?	NR	9E-6	(F3)			Affymetrix [70897]	N
1633	chr2	137491120	137491121	rs1582861	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2q22.1	THSD7B	rs1582861-T	0.50	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1634	chr2	137555223	137555224	rs1427593	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	2q22.1	THSD7B	rs1427593-A	0.08	7E-6	(dominant)	1.49	[1.25-1.77]	Illumina [420236]	N
1636	chr2	137768701	137768702	rs979976	23761726	Yazar S	2013-06-06	Mol Vis	Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.	Corneal astigmatism	2,784 European ancestry individuals		2q22.1	NR	rs979976-A	NR	8E-6		0.134	[0.075-0.193] unit increase	Illumina [~ 2500000] (imputed)	N
1636	chr2	137873346	137873347	rs892877	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (aspartate transaminase)	484 Korean ancestry children	NA	2q22.1	THSD7B	rs892877-A	0.18	4E-6		0.032	[0.018-0.046] unit decrease	Illumina [747076]	N
1636	chr2	137875874	137875875	rs1469622	24172245	Haga S	2013-10-31	J Hum Genet	A genome-wide association study of third molar agenesis in Japanese and Korean populations.	Tooth agenesis (third molar)	149 East Asian ancestry cases, 338 East Asian ancestry controls	NA	2q22.1	THSD7B	rs1469622-T	NR	8E-6		1.88	[1.43-2.47]	Illumina [532105]	N
1637	chr2	137925906	137925907	rs13019227	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q22.1	NR	rs13019227-?	NR	3E-8	(Japanese)	0.7808	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1638	chr2	138142163	138142164	rs13405020	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	2q22.1	THSD7B	rs13405020-?	NR	7E-6	(Dominant model)			Affymetrix [271817]	N
1647	chr2	139212489	139212490	rs35094601	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q22.1	NR	rs35094601-G	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1647	chr2	139278921	139278922	rs10170310	23241943	Clark SL	2012-12-12	Pharmacogenet Genomics	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	Response to antipsychotic treatment	Up to 421 European ancestry Schizophrenia cases, up to 214 African American individuals, up to 103 individuals	NA	2q22.1	SPOPL	rs10170310-G	0.213	1E-7	(Effect of Olanzapine on PGI)			Affymetrix [492900]	N
1648	chr2	139399353	139399354	rs58938945	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	2q22.1	intergenic	rs58938945-A		8E-6		0.2848	unit increase	Illumina [5767231] (imputed)	N
1650	chr2	139671954	139671955	rs9636231	21956439	Zuo L	2011-09-28	Neuropsychopharmacology	Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.	Alcohol dependence	1,409 European ancestry cases, 1,518 European ancestry controls, 681 African American cases, 508 African American controls	NA	2q22.1	NXPH2	rs9636231-?	NR	8E-6	(EA + AA)			Illumina [805814]	N
1652	chr2	139874227	139874228	rs115089939	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	2q22.1	LOC647012	rs115089939-T	NR	1E-6	(Pi10, Cases)	0.086	[0.053-0.119] unit decrease	Illumina [7600000] (imputed)	N
1654	chr2	140147831	140147832	rs1399645	19478329	Aston KI	2009-05-28	J Androl	Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.	Male infertility	52 European ancestry oligozoospermic cases, 40 European ancestry non-obstructive azoospermic cases, 80 European ancestry controls	NA	2q22.1	NXPH2	rs1399645-?	0.02	9E-7	(azoospermia)			Illumina [314776]	N
1657	chr2	140626730	140626731	rs16842994	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	2q22.1	intergenic	rs16842994-C	0.02	2E-6			[NR]	Affymetrix [398699]	N
1662	chr2	141226308	141226309	rs72899866	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	2q22.1	LRP1B	rs72899866-A	0.22	5E-6	(Age 20-60 years)	1.39	[1.21-1.60]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1662	chr2	141269441	141269442	rs183373550	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	2q22.1	NR	rs183373550-A	0.002	7E-6		1.258	[0.71-1.8] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1663	chr2	141362057	141362058	rs491391	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (disc area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	2q22.1	LRP1B	rs491391-A	NR	3E-7		0.407	[0.22-0.59] unit decrease	Illumina [~ 2740000] (imputed)	N
1664	chr2	141545754	141545755	rs17515225	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	2q22.1	LRP1B	rs17515225-T	0.445	3E-9		0.032	[0.021-0.042] unit increase	Illumina [7428049] (imputed)	N
1665	chr2	141591407	141591408	rs76247873	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q22.1	LRP1B, MRPS18BP2, LOC100129955	rs76247873-A	0.039	5E-6		3.37	[1.94-5.85]	Illumina [1556551]	N
1666	chr2	141721141	141721142	rs12474609	19367585	Poduslo SE	2009-04-14	Am J Med Genet B Neuropsychiatr Genet	A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysis.	Aging	89 European ancestry and African American successfully aged individuals, 227 European ancestry Alzheimers cases	NA	2q22.1	LRP1B	rs12474609-?	NR	6E-9				Affymetrix [469218]	N
1666	chr2	141741589	141741590	rs4954683	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q22.1	NR	rs4954683-C	0.172162723953695	9E-6	(IGP65)	0.1823	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1666	chr2	141795619	141795620	rs10210358	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	2q22.1	LRP1B	rs10210358-?	0.31	2E-6		5.34	[NR]	Affymetrix [512497]	N
1667	chr2	141921787	141921788	rs1033284	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	2q22.1	LRP1B	rs1033284-?	NR	3E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1668	chr2	142015245	142015246	rs77455689	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q22.1	NR	rs77455689-?	NR	4E-6	(Native Hawaiian)	1.1204	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1669	chr2	142172365	142172366	rs4954702	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q22.1	NR	rs4954702-?	NR	1E-6		0.1077	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1670	chr2	142228508	142228509	rs12472911	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2q22.1	LRP1B	rs12472911-C	0.2	7E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1670	chr2	142228508	142228509	rs12472911	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	2q22.1	LRP1B	rs12472911-C	0.20	2E-7		2.5	[1.52-3.48] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1674	chr2	142767432	142767433	rs34311235	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	2q22.2	LRP1B	rs34311235-T	0.368	8E-9		0.032	[0.021-0.042] unit increase	Illumina [7428049] (imputed)	N
1675	chr2	142959930	142959931	rs2890652	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	2q22.2	LRP1B	rs2890652-C	0.18	1E-10		0.09	[0.03-0.15] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1676	chr2	143043284	143043285	rs2121279	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q22.2	LRP1B	rs2121279-T	0.154	4E-7	(EA, men)	0.029	[0.018-0.04] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1676	chr2	143043284	143043285	rs2121279	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q22.2	LRP1B	rs2121279-T	0.152	2E-8	(EA)	0.025	[0.016-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1676	chr2	143043284	143043285	rs2121279	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q22.2	LRP1B	rs2121279-T	0.15	2E-8		0.024	[0.016-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1681	chr2	143759690	143759691	rs352889	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	2q22.2	KYNU, ARHGAP15	rs352889-A	0.39	4E-6		0.016	[0.0082-0.0238] unit increase	Affymetrix, Illumina [2378986] (imputed)	N
1682	chr2	143854933	143854934	rs73962318	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q22.2	NR	rs73962318-?	NR	6E-7		0.3471	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1684	chr2	144076739	144076740	rs2381408	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	2q22.2	ARHGAP15	rs2381408-?	NR	7E-6	(SCR Frequency)	0.549	[0.31-0.79] unit increase	Illumina [527829]	N
1684	chr2	144096373	144096374	rs10176394	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	2q22.2	ARHGAP15	rs10176394-T	0.1431	2E-6		1.7701	[NR] unit decrease	Illumina [1216189] (imputed)	N
1684	chr2	144168634	144168635	rs7596264	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	2q22.3	ARHGAP15	rs7596264-G	0.8696	5E-6		0.4449	[0.25-0.64] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1686	chr2	144428607	144428608	rs10928195	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	2q22.3	ARHGAP15	rs10928195-C	0.08	4E-6	(weight)	0.36	[NR] lb. decrease	Affymetrix [408775]	N
1688	chr2	144598431	144598432	rs1257344	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q22.3	ARHGAP15, LOC100130702	rs1257344-G	0.511	3E-6		0.0		Illumina [1556551]	N
1688	chr2	144690116	144690117	rs1011397	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q22.3	GTDC1	rs1011397-G	0.197	8E-6	(Energy balance )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1691	chr2	145061130	145061131	rs62169186	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q22.3	NR	rs62169186-?	NR	3E-6	(Latino)	0.7196	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1692	chr2	145141540	145141541	rs12991836	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q22.3	NR	rs12991836-C	NR	4E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1692	chr2	145141540	145141541	rs12991836	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	2q22.3	ZEB2	rs12991836-C	0.348	1E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [9871789]	N
1692	chr2	145208192	145208193	rs12105918	23184150	Henrion M	2012-11-25	Hum Mol Genet	Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer.	Renal cell carcinoma	2,215 European ancestry cases, 8,566 European ancestry controls	3,739 European ancestry cases, 8,786 European ancestry controls	2q22.3	ZEB2	rs12105918-?	0.056	2E-8		1.45	[1.20-1.75]	Illumina [284377]	N
1692	chr2	145209915	145209916	rs72858496	25826619	Henrion MY	2015-03-31	PLoS One	Common Variation at 1q24.1 (ALDH9A1) Is a Potential Risk Factor for Renal Cancer.	Renal cell carcinoma	2,215 Western European ancestry cases, 8,566 Western European ancestry controls	2,844 European ancestry cases, 7,270 European ancestry controls	2q22.3	ZEB2	rs72858496-T	NR	2E-7	(Western European)	1.46	[1.32-1.60]	Illumina [up to 12182133] (imputed)	N
1692	chr2	145223619	145223620	rs13382811	23933737	Khor CC	2013-08-09	Hum Mol Genet	Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.	Myopia (severe)	1,603 East Asian ancestry cases, 3,427 East Asian ancestry controls	1,241 East Asian ancestry cases, 3,559 East Asian ancestry controls	2q22.3	ZFHX1B	rs13382811-T	0.275	6E-10		1.26	[NR]	Illumina [250531]	N
1693	chr2	145351820	145351821	rs7355746	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q22.3	ZEB2	rs7355746-A	0.014	5E-7	(Urinary nitrogen )	0.04	[NR] g/d increase	Illumina [899892]	N
1694	chr2	145359908	145359909	rs10496964	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	2q22.3	ZEB2	rs10496964-C	0.844	9E-9	(GAE)	1.47	[1.28-1.67]	Affymetrix [4560000] (imputed)	N
1695	chr2	145492381	145492382	rs11681525	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q22.3	NR	rs11681525-G	0.91	2E-9	(EA)	1.1134332		Affymetrix, Illumina [~ 9000000] (imputed)	N
1695	chr2	145492381	145492382	rs11681525	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q22.3	intergenic	rs11681525-C	0.91	4E-11	(EA)	1.1577194		Affymetrix, Illumina [~ 9000000] (imputed)	N
1699	chr2	146044051	146044052	rs1822881	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	2q22.3	NR	rs1822881-A		4E-6				Illumina [2373249] (imputed)	N
1699	chr2	146045564	146045565	rs11687420	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	2q22.3	NR	rs11687420-A		4E-6				Illumina [2373249] (imputed)	N
1699	chr2	146071852	146071853	rs10180522	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	2q22.3	NR	rs10180522-A		7E-6				Illumina [2373249] (imputed)	N
1699	chr2	146092755	146092756	rs13407123	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	2q22.3	NR	rs13407123-T		8E-6				Illumina [2373249] (imputed)	N
1699	chr2	146105253	146105254	rs10445672	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q22.3	intergenic	rs10445672-G	0.093	8E-6	(Vigorous activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1699	chr2	146125522	146125523	rs10427255	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	2q22.3	intergenic	rs10427255-C	0.46	1E-11	(sneeze)	1.32	[NR]	Illumina [535076]	N
1702	chr2	146428030	146428031	rs2381759	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q22.3	NR	rs2381759-T	NR	10E-9		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1703	chr2	146666256	146666257	rs10496992	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	2q22.3	intergenic	rs10496992-G	0.38	2E-6	(EA)	0.05	[0.03-0.07] unit increase	Illumina [up to 905285]	N
1707	chr2	147084869	147084870	rs16855418	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q22.3	NR	rs16855418-?	NR	4E-6	(Latino)	0.8124	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1709	chr2	147372023	147372024	rs10928302	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	2q22.3	intergenic	rs10928302-?	NR	8E-6	(progression)			Illumina [NR]	N
1710	chr2	147583186	147583187	rs35662245	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q22.3	NR	rs35662245-A	NR	1E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1711	chr2	147708863	147708864	rs75638626	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	2q22.3	intergenic	rs75638626-C	NR	8E-6	(Fixed effect)	0.08	[0.041-0.119] unit decrease	Illumina [4736131] (imputed)	N
1717	chr2	148478335	148478336	rs7584099	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	2q22.3	ACVR2A, ORC4L, LOC647065	rs7584099-G	0.41	5E-7	(Triglyceride, diff)			Illumina [~ 2500000] (imputed)	N
1719	chr2	148716427	148716428	rs2307394	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	2q23.1	ACVR2A, ORC4L	rs2307394-T	0.68	2E-8		0.029	[0.019-0.039] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1722	chr2	149086643	149086644	rs187650835	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	2q23.1	NR	rs187650835-?		1E-6	(PCB194)	1.19	[0.72-1.66] unit decrease	Illumina [8736858] (imputed)	N
1724	chr2	149387967	149387968	rs10191411	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	2q23.1	EPC2	rs10191411-?	0.32	4E-6	(IL8)			Illumina [496032]	N
1724	chr2	149412004	149412005	rs76355118	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q23.1	NR	rs76355118-G	NR	3E-8		1.1627907	[NR]	Illumina [7158791] (imputed)	N
1726	chr2	149557859	149557860	rs2121433	21123754	Kim S	2010-12-01	Neurology	Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.	Alzheimer's disease biomarkers	96 European ancestry Alzheimer disease cases, 176 European ancestry individuals with mild cognitive impairment, 102 European ancestry controls	NA	2q23.1	EPC2	rs2121433-?	NR	1E-6	(t-tau)			Illumina [322557]	N
1726	chr2	149568395	149568396	rs4499362	21123754	Kim S	2010-12-01	Neurology	Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.	Alzheimer's disease biomarkers	96 European ancestry Alzheimer disease cases, 176 European ancestry individuals with mild cognitive impairment, 102 European ancestry controls	NA	2q23.1	EPC2	rs4499362-?	NR	1E-6	(t-tau/AB1-42)			Illumina [322557]	N
1728	chr2	149865249	149865250	rs6435387	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	2q23.2	KIF5C, LYPD6B	rs6435387-G	NR	8E-6	(5 degree of freedom test)	1.129	[1.06-1.19]	NR [1252901] (imputed)	N
1730	chr2	150147277	150147278	rs10432496	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	2q23.2	LOC100129594	rs10432496-A		6E-8	(AA)			Illumina [NR]	N
1732	chr2	150397217	150397218	rs7578361	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	2q23.2	intergenic	rs7578361-C	0.276	8E-6		1.4	[1.21-1.63]	Affymetrix [444044]	N
1732	chr2	150457623	150457624	rs10170236	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	2q23.3	LOC642340	rs10170236-C	0.256	4E-6		1.45	[1.24-1.69]	Affymetrix [444044]	N
1733	chr2	150509331	150509332	rs16827293	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	2q23.3	LOC642340	rs16827293-A	0.12	5E-6	(AA, Smoking, Years)	0.44	[0.25-0.63] unit decrease	Affymetrix [706791]	N
1733	chr2	150564483	150564484	rs17801127	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	2q23.3	MMADHC	rs17801127-A	0.03	2E-7		0.154	[0.097-0.211] unit increase	Illumina [747076]	N
1734	chr2	150655220	150655221	rs1012307	24824216	Myers RA	2014-05-13	Hum Mol Genet	Genome-wide interaction studies reveal sex-specific asthma risk alleles.	Asthma (sex interaction)	1,052 European ancestry male cases, 1,019 European ancestry female cases, 709 European ancestry male controls, 826 European ancestry female controls, 675 African American/African Caribbean male cases, 837 African American/African Caribbean female cases, 577 African American/African Caribbean male controls, 926 African American/African Caribbean female controls, 926 Latino male cases, 710 Latino female cases, 410 Latino male controls, 382 Latino female controls	NA	2q23.3	AK057517	rs1012307-C	0.20	8E-7	(African American/African Caribbean, female)	1.44	[1.25-1.67]	Affymetrix, Illumina [~ 2100000] (imputed)	N
1734	chr2	150697147	150697148	rs11889862	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	2q23.3	NR	rs11889862-?	NR	2E-6		0.36	[0.21-0.51] years decrease	Illumina [315418]	N
1738	chr2	151126402	151126403	rs6716455	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol use disorder factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	2q23.3	intergenic	rs6716455-G	0.13	7E-7		0.123	[NR] unit increase	Illumina [~ 300000]	N
1738	chr2	151126402	151126403	rs6716455	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol dependence factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	2q23.3	intergenic	rs6716455-G	0.13	9E-6		0.109	[NR] unit increase	Illumina [~ 300000]	N
1741	chr2	151635831	151635832	rs6757804	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	2q23.3	RBM43, RND3	rs6757804-G	0.401	6E-8		1.2	[1.13-1.29]	Illumina [580699]	N
1741	chr2	151637935	151637936	rs7560163	22238593	Palmer ND	2012-01-04	PLoS One	A genome-wide association search for type 2 diabetes genes in African Americans.	Type 2 diabetes	965 African American cases, 1,029 African American controls	2,167 African American cases, 2,288 African American controls	2q23.3	RBM43, RND3	rs7560163-C	0.86	7E-9		1.33	[1.19-1.49]	Affymetrix [832357]	N
1742	chr2	151725791	151725792	rs10195263	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	2q23.3	LOC344332	rs10195263-G		3E-8	(EA)			Illumina [NR]	N
1746	chr2	152253917	152253918	rs10197940	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	2q23.3	TNFAIP6, RIF1	rs10197940-T	0.52	5E-6		1.12	[1.06-1.18]	Illumina [596032]	N
1751	chr2	152957410	152957411	rs3820706	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia)	303 Japanese ancestry cases, 880 Japanese ancestry controls	23 Japanese ancestry cases	2q23.3	CACNB4	rs3820706-G	0.57	2E-9	(Recessive)	2.38	[1.44-3.93]	Illumina [555600]	N
1752	chr2	152981334	152981335	rs16830728	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia)	303 Japanese ancestry cases, 880 Japanese ancestry controls	23 Japanese ancestry cases	2q23.3	STAM2	rs16830728-T	0.59	3E-8	(Recessive)	3.61	[2.17-5.98]	Illumina [555600]	N
1755	chr2	153436569	153436570	rs11675841	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q23.3	NR	rs11675841-C	0.607345676902537	6E-6	(IGP71)	0.1448	[0.082-0.208] unit decrease	Illumina [~ 2500000] (imputed)	N
1755	chr2	153436569	153436570	rs11675841	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q23.3	NR	rs11675841-C	0.607345676902537	6E-6	(IGP66)	0.1448	[0.082-0.208] unit decrease	Illumina [~ 2500000] (imputed)	N
1755	chr2	153436569	153436570	rs11675841	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q23.3	NR	rs11675841-C	0.607345676902537	5E-6	(IGP70)	0.1458	[0.083-0.208] unit decrease	Illumina [~ 2500000] (imputed)	N
1755	chr2	153436569	153436570	rs11675841	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q23.3	NR	rs11675841-C	0.607171814781834	8E-6	(IGP68)	0.1429	[0.08-0.206] unit decrease	Illumina [~ 2500000] (imputed)	N
1758	chr2	153749367	153749368	rs78683678	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	2q23.3	intergenic	rs78683678-T	0.09	5E-6		0.168	[0.095-0.241] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1759	chr2	153943225	153943226	rs186826000	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q23.3	NR	rs186826000-?	NR	8E-6	(Native Hawaiian)	1.2102	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1759	chr2	153943225	153943226	rs186826000	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q23.3	NR	rs186826000-?	NR	3E-7	(Native Hawaiian)	1.2654	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1763	chr2	154509238	154509239	rs1546676	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2q23.3	intergenic	rs1546676-?		8E-6	(M)	23.62	[12.86-34.38] unit increase	Illumina [693128]	N
1764	chr2	154568756	154568757	rs10931753	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	2q23.3	RPRM, GALNT13	rs10931753-?	NR	5E-6		0.129	[0.074-0.184] unit increase	Illumina [> 2500000] (imputed)	N
1765	chr2	154731286	154731287	rs6751439	25979521	de Jong K	2015-06-05	J Allergy Clin Immunol	Genome-wide interaction study of gene-by-occupational exposure and effects on FEV<sub>1</sub> levels.	Forced expiratory volume in 1 second (environmental interaction)	12,400 individuals	1,436 individuals	2q23.3	GALNT13	rs6751439-A	0.13	7E-7	Mineral dust	170.8	[NR] unit decrease	Illumina [up to 221663]	N
1767	chr2	155002846	155002847	rs16836124	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q24.1	GALNT13	rs16836124-G	0.054	6E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1768	chr2	155070566	155070567	rs958672	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	2q24.1	GALNT13	rs958672-?	NR	2E-6	(age at natural menopause)			Affymetrix [70897]	N
1768	chr2	155171138	155171139	rs12693973	24348519	Namjou B	2013-12-03	Front Genet	EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.	Body mass index	up to 2,860 European ancestry children	NA	2q24.1	GALNT13	rs12693973-?	NR	2E-6		4.8	[NR] z score decrease	Affymetrix, Illumina [up to 583824] (imputed)	N
1769	chr2	155226676	155226677	rs707040	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	2q24.1	intergenic	rs707040-?	0.38	6E-6	(Recessive)	1.17	[1.10-1.26]	Affymetrix [319222]	N
1769	chr2	155226676	155226677	rs707040	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	2q24.1	intergenic	rs707040-?	0.38	6E-6	(Recessive)	1.17	[1.10-1.26]	Affymetrix [319222]	N
1769	chr2	155234317	155234318	rs12621256	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	2q24.1	GALNT13	rs12621256-G	0.066	4E-6		0.092	[0.053-0.131] unit increase	Illumina [747076]	N
1773	chr2	155812391	155812392	rs183369189	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q24.1	NR	rs183369189-?	NR	2E-7	(AA)	0.8502	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1774	chr2	155868666	155868667	rs6736848	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q24.1	NR	rs6736848-T	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1777	chr2	156256700	156256701	rs4544377	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	2q24.1	KCNJ3	rs4544377-A	0.88	2E-6		1.832	[1.623-2.07]	Illumina [NR]	N
1779	chr2	156535852	156535853	rs7594648	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	2q24.1	intergenic	rs7594648-?		6E-6	(PC3)	0.0443	[NR] unit increase	Illumina [4167292] (imputed)	N
1779	chr2	156579659	156579660	rs4664774	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	2q24.1	NR	rs4664774-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1780	chr2	156751920	156751921	rs1520339	25557950	Alonso A	2014-12-31	Gastroenterology	Identification of Risk Loci for Crohn's Disease Phenotypes Using a Genome-wide Association Study.	Crohn's disease-related phenotypes	up to 1,090 Southern European ancestry Crohn's disease cases	up to 1,296 Southern European ancestry Crohn's disease cases	2q24.1	intergenic	rs1520339-C	0.69	6E-7	(MDC)	1.724138	[1.39-2.13]	Illumina [539846]	N
1780	chr2	156752458	156752459	rs17236969	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2q24.1	NR4A2	rs17236969-T	0.14	3E-9		0.05	[0.034-0.066] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1781	chr2	156844759	156844760	rs13017997	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q24.1	NR	rs13017997-T	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1781	chr2	156888499	156888500	rs1918172	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	2q24.1	intergenic	rs1918172-?	NR	5E-6	(count)			Perlegen [429981]	N
1782	chr2	156925285	156925286	rs16839962	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	2q24.1	NR4A2, GPD2, LOC728038	rs16839962-T	0.13	9E-6	(HDL, sum)			Illumina [~ 2500000] (imputed)	N
1782	chr2	156933552	156933553	rs10177924	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	2q24.1	NR	rs10177924-?		3E-6	(females)			Illumina [1211988] (imputed)	N
1783	chr2	157096775	157096776	rs17188434	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	2q24.1	NR4A2	rs17188434-C	0.07	1E-9		4.5	[3.13-5.87] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1783	chr2	157126963	157126964	rs4369815	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2q24.1	NR4A2	rs4369815-T	0.93	2E-10		0.06	[0.04-0.08] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1785	chr2	157381753	157381754	rs56051278	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	2q24.1	GPD2	rs56051278-G	0.265	2E-29		0.066	[0.055-0.078] unit increase	Illumina [7428049] (imputed)	N
1787	chr2	157552859	157552860	rs7601713	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	2q24.1	intergenic	rs7601713-A	0.23	2E-6		0.16	[0.10-0.22] unit decrease	Illumina [~ 318327]	N
1787	chr2	157598677	157598678	rs8179646	25082827	Julia A	2014-07-31	Hum Mol Genet	A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.	Ulcerative colitis	up to 7,483 European ancestry cases, up to 21,211 European ancestry controls	1,073 European ancestry cases, 1,279 European ancestry controls	2q24.1	GPD2	rs8179646-T	0.38	6E-6	(Southern European)	1.17	[1.03-1.34]	Illumina [546271]	N
1789	chr2	157868867	157868868	rs16841200	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q24.1	GPD2, CDK7PS	rs16841200-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1793	chr2	158346569	158346570	rs6707470	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	2q24.1	NR	rs6707470-A	0.9811	1E-6	(Trans/trans-18:2, EA)	0.008	[0.0049-0.0111] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1793	chr2	158348075	158348076	rs6757720	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	2q24.1	NR	rs6757720-C	0.981	9E-7	(Trans/trans-18:2, EA)	0.0082	[0.0049-0.0115] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1793	chr2	158348471	158348472	rs7566684	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	2q24.1	NR	rs7566684-A	0.981	8E-7	(Trans/trans-18:2, EA)	0.0082	[0.0049-0.0115] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1796	chr2	158780203	158780204	rs10183640	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	2q24.1	intergenic	rs10183640-?	0.35	5E-7	(Dominant)	1.12	[1.08-1.18]	Affymetrix [319222]	N
1796	chr2	158790424	158790425	rs35806662	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	2q24.1	LOC100130766	rs35806662-?	NR	6E-7	(% Change in score)	0.2	[NR] unit decrease	Illumina [~ 7000000] (imputed)	N
1796	chr2	158843017	158843018	rs6437122	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	2q24.1	UPP2	rs6437122-?	NR	6E-6	(EA)	3.25	[1.84-4.66] unit decrease	Affymetrix, Illumina [2033301]	N
1797	chr2	158977793	158977794	rs2074955	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal P-tau181p levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	2q24.1	UPP2	rs2074955-C	NR	1E-7	(Controls)			Illumina [498205]	N
1803	chr2	159670448	159670449	rs16843372	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q24.1	DAPL1, PKP4	rs16843372-G	0.359	1E-6	(TBF-b1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1803	chr2	159700579	159700580	rs1125355	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	2q24.1	DAPL1, OR7E89P	rs1125355-A	0.26	4E-6		1.16	[1.09-1.23]	NR [NR]	N
1804	chr2	159899488	159899489	rs7582141	24974847	Fachal L	2014-06-29	Nat Genet	A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.	Response to radiotherapy in prostate cancer (toxicity)	Up to 652 European ancestry cases	849 European ancestry cases	2q24.2	TANC1, BTF3L4P2, GSTM3P2	rs7582141-T	0.04	5E-11	(late toxicity)	0.37	[NR] unit increase	Affymetrix [552597]	N
1806	chr2	160069755	160069756	rs13022357	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	2q24.2	intergenic	rs13022357-?	0.09	1E-6	(Recessive)	1.72	[1.38-2.14]	Affymetrix [319222]	N
1807	chr2	160190208	160190209	rs4665058	21738491	Arking DE	2011-06-30	PLoS Genet	Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals.	Sudden cardiac arrest	1,283 European ancestry cases, ~20,000 European ancestry controls	3,119 European ancestry cases, 11,146 European ancestry controls	2q24.2	BAZ2B	rs4665058-A	0.014	2E-10		1.92	[1.57-2.34]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1808	chr2	160407484	160407485	rs6751744	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	2q24.2	NR	rs6751744-?	NR	5E-6		2.584	[NR]	Illumina [4196861] (imputed)	N
1811	chr2	160714614	160714615	rs10929956	25557950	Alonso A	2014-12-31	Gastroenterology	Identification of Risk Loci for Crohn's Disease Phenotypes Using a Genome-wide Association Study.	Crohn's disease-related phenotypes	up to 1,090 Southern European ancestry Crohn's disease cases	up to 1,296 Southern European ancestry Crohn's disease cases	2q24.2	LY75	rs10929956-C	0.54	2E-6	(EIM Erythema nodosum)	1.85	[1.43-2.44]	Illumina [539846]	N
1811	chr2	160794007	160794008	rs4664304	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q24.2	MARCH7, LY75, PLA2R1	rs4664304-A	0.4379	3E-8	(EA)	1.0576227	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1811	chr2	160794007	160794008	rs4664304	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q24.2	MARCH7, LY75, PLA2R1	rs4664304-A	0.4379	1E-6	(EA)	1.0610188	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1812	chr2	160867058	160867059	rs2667011	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	2q24.2	PLA2R1	rs2667011-?	0.248	2E-13		0.038	[NR] bilirubin level decrease	Affymetrix [1227049] (imputed)	N
1812	chr2	160917496	160917497	rs4664308	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	2q24.2	LY75, ITGB6, PLA2R1, RBMS1	rs4664308-A	0.43	9E-29		2.28	[1.96-2.64]	Illumina [242824]	N
1814	chr2	161171453	161171454	rs7593730	20418489	Qi L	2010-04-23	Hum Mol Genet	Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes.	Type 2 diabetes	2,591 European ancestry cases, 3,052 European ancestry controls	10,870 European ancestry cases, 73,735 European ancestry controls	2q24.2	ITGB6, RBMS1	rs7593730-?	0.78	4E-8		1.11	[1.08-1.16]	Affymetrix [683509]	N
1816	chr2	161380887	161380888	rs10192369	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	2q24.2	RBMS1	rs10192369-T	0.47	9E-6	(susceptibilty)	1.17	[NR]	Illumina [288357]	N
1817	chr2	161572780	161572781	rs6732189	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2q24.2	intergenic	rs6732189-A	0.526	8E-8		0.023	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1819	chr2	161757128	161757129	rs10208407	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q24.2	TANK	rs10208407-A	0.0080	2E-6	(Vigorous activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1819	chr2	161781772	161781773	rs1722636	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2q24.2	TANK	rs1722636-T	0.23	6E-7	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1819	chr2	161785168	161785169	rs1829975	22310353	Man M	2012-02-07	Pharmacogenomics J	Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.	Treatment response for severe sepsis	1,446 individuals	NA	2q24.2	TANK	rs1829975-?	NR	6E-6	(AG vs. not AG)			Illumina [856627]	N
1820	chr2	161886102	161886103	rs2357982	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	2q24.2	TANK	rs2357982-?	0.3885	3E-6	(anti-B2 GPI)	2.189	[NR]	Affymetrix [906600]	N
1820	chr2	161894662	161894663	rs197273	23372041	Chu AY	2013-01-30	Hum Mol Genet	Novel locus including FGF21 is associated with dietary macronutrient intake.	Dietary macronutrient intake	33,533 European ancestry individuuals	38,360 European ancestry individuuals	2q24.2	TANK	rs197273-A	0.48	1E-7	(Carbohydrates - model 2)	0.23	[0.15-0.31] percent increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1821	chr2	162029112	162029113	rs7568498	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	2q24.2	TANK	rs7568498-?		2E-8	(Hispanic)		[NR]	Illumina [936149]	N
1821	chr2	162092639	162092640	rs7309	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2q24.2	TANK, PSMD14, TBR1	rs7309-A	0.491	2E-7		0.022	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1821	chr2	162092639	162092640	rs7309	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 126,559 European ancestry individuals	NA	2q24.2	TANK	rs7309-A	0.476	4E-8	(Edu Years)	0.088	[NR] unit decrease	Affymetrix, Illumina, Perlegen [up to 23218963] (imputed)	N
1822	chr2	162224663	162224664	rs2303319	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	2q24.2	PSMD14	rs2303319-?	NR	9E-6		0.0451	[0.025-0.065] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
1827	chr2	162831755	162831756	rs4295021	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	2q24.2	NR	rs4295021-?		3E-6		0.27	unit increase	Illumina [1211988] (imputed)	N
1827	chr2	162831755	162831756	rs4295021	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children	1,686 Bangladeshi women	NA	2q24.2	NR	rs4295021-?		7E-6		0.28	unit increase	Illumina [1211988] (imputed)	N
1827	chr2	162845854	162845855	rs2909457	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q24.2	NR	rs2909457-G	NR	6E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1827	chr2	162845854	162845855	rs2909457	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	2q24.2	DPP4, SLC4A10	rs2909457-G	0.407	5E-8		1.059322	[1.04-1.08]	Affymetrix, Illumina [9005918] (imputed)	N
1827	chr2	162851146	162851147	rs12617656	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	2q24.2	DPP4	rs12617656-T	0.338	2E-21	(ACPA+ cases vs. all controls)	1.557	[NR]	Affymetrix [3441843] (imputed)	N
1827	chr2	162851146	162851147	rs12617656	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	2q24.2	DPP4	rs12617656-T	0.338	1E-8	(all cases vs. all controls)	1.243	[NR]	Affymetrix [3441843] (imputed)	N
1827	chr2	162867612	162867613	rs10166311	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2q24.2	intergenic	rs10166311-A	0.326	1E-6		0.023	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1827	chr2	162910222	162910223	rs6741949	22504421	Bis JC	2012-04-15	Nat Genet	Common variants at 12q14 and 12q24 are associated with hippocampal volume.	Hippocampal volume	9,232 European ancestry individuals	2,318 European ancestry individuals	2q24.2	DPP4	rs6741949-G	0.53	3E-7		52.8	[32.61-72.99] mm3 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1828	chr2	162959747	162959748	rs2270447	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	2q24.2	NR	rs2270447-?	NR	8E-7	(earlobes)			Illumina [535076]	N
1829	chr2	163110535	163110536	rs2111485	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q24.2	NR	rs2111485-A	0.3915	2E-10	(EA)	1.0891383	[1.06-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1829	chr2	163110535	163110536	rs2111485	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	2q24.2	FAP, IFIH1	rs2111485-?	NR	2E-12	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1829	chr2	163110535	163110536	rs2111485	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2q24.2	IFIH1	rs2111485-A	0.404	2E-8		1.066	[1.035-1.097]	Affymetrix, Illumina [1230000] (imputed)	N
1829	chr2	163110535	163110536	rs2111485	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	2q24.2	IFIH1	rs2111485-G	0.62	5E-15		1.3	[NR]	Illumina [495821]	N
1829	chr2	163124050	163124051	rs1990760	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q24.2	NR	rs1990760-?	NR	4E-10	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1829	chr2	163124050	163124051	rs1990760	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	2q24.2	IFIH1	rs1990760-T	0.61416	1E-7	(EA)	1.19	[1.12-1.28]	Illumina [up to 4778154] (imputed)	N
1829	chr2	163124050	163124051	rs1990760	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	2q24.2	IFIH1	rs1990760-T	0.614	1E-8		1.18	[1.12-1.25]	Illumina [up to 4778154] (imputed)	N
1829	chr2	163124050	163124051	rs1990760	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	2q24.2	IFIH1	rs1990760-C	NR	2E-14	(T1D)	1.2	[NR]	Affymetrix, Illumina [NR]	N
1829	chr2	163124050	163124051	rs1990760	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	2q24.2	IFIH1	rs1990760-?	0.61	7E-10		1.49	[1.32-1.69]	Illumina [2057134] (imputed)	N
1829	chr2	163124050	163124051	rs1990760	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	2q24.2	IFIH1	rs1990760-?	NR	7E-9				Affymetrix, Illumina [841622] (imputed)	N
1829	chr2	163124050	163124051	rs1990760	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	2q24.2	IFIH1	rs1990760-A	0.60	2E-11		1.18	[1.11-1.23]	Affymetrix [NR]	N
1829	chr2	163128823	163128824	rs3747517	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	2q24.2	IFIH1	rs3747517-T	0.274	3E-11	(EA, conditional on rs1990760)	1.33	[1.23-1.45]	Illumina [up to 4778154] (imputed)	N
1829	chr2	163128823	163128824	rs3747517	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	2q24.2	IFIH1	rs3747517-T	0.274	1E-18	(conditional on rs1990760)	1.3	[1.22-1.37]	Illumina [up to 4778154] (imputed)	N
1830	chr2	163260690	163260691	rs17716942	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	2q24.2	IFIH1	rs17716942-T	NR	3E-9		1.309	[1.198-1.433]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1830	chr2	163260690	163260691	rs17716942	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	2q24.2	KCNH7	rs17716942-?	NR	4E-11	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1830	chr2	163260690	163260691	rs17716942	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	2q24.2	IFIH1	rs17716942-A	0.86	1E-13		1.29	[1.17-1.43]	Illumina [535475]	N
1834	chr2	163778612	163778613	rs148760487	25890600	Guo Q	2015-04-18	J Natl Cancer Inst	Identification of novel genetic markers of breast cancer survival.	Breast cancer (survival)	23,059 European ancestry estrogen-receptor positive cases, 6,881 European ancestry estrogen-receptor negative cases, 8,014 European ancestry cases		2q24.3	KCNH7, BC042876	rs148760487-?	0.01	2E-8		1.88	[1.51-2.34]	Affymetrix, Illumina [9000000] (imputed)	N
1834	chr2	163781786	163781787	rs1424760	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	2q24.3	KCNH7	rs1424760-?	NR	4E-8	(proportions)	0.7	[NR] % increase	Illumina [NR] (imputed)	N
1838	chr2	164317875	164317876	rs12476047	19680635	Alkelai A	2009-08-13	Psychopharmacology (Berl)	Genome-wide association study of antipsychotic-induced parkinsonism severity among schizophrenia patients.	Response to antipsychotic treatment	140 European ancestry cases, 117 European ancestry controls, 57 African American cases, 72 African American controls, 2 cases, 9 controls	NA	2q24.3	FIGN	rs12476047-C	NR	3E-6		3.21	[1.97-5.25]	Affymetrix, Perlegen [495172]	N
1838	chr2	164326753	164326754	rs13014982	25823687	Cao S	2015-03-31	Pharmacogenomics J	Genome-wide association study of myelosuppression in non-small-cell lung cancer patients with platinum-based chemotherapy.	Platinum-induced myelosuppression in non-small cell lung cancer	328 Han Chinese ancestry cases	876 Han Chinese ancestry cases	2q24.3	FIGN	rs13014982-?		7E-6	(variant homozygote model)			Affymetrix [588732]	N
1838	chr2	164333145	164333146	rs1462163	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	2q24.3	NBAS	rs1462163-T	0.471039815	9E-6		0.031028014	[0.017-0.045] unit increase	Illumina [1632371] (imputed)	N
1839	chr2	164490528	164490529	rs982393	19744961	Hazra A	2009-09-10	Hum Mol Genet	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	Folate pathway vitamin levels	3,305 European ancestry females, 1,458 European ancestry males	NA	2q24.3	FIGN	rs982393-?	NR	8E-8	(Plasma folate)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1840	chr2	164567688	164567689	rs1460676	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q24.3	FIGN	rs1460676-C	0.179	5E-8		0.021	[0.013-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1840	chr2	164567688	164567689	rs1460676	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q24.3	FIGN	rs1460676-C	0.173	9E-7	(EA)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1841	chr2	164630951	164630952	rs7576072	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q24.3	FIGN, LOC100129745	rs7576072-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1842	chr2	164801784	164801785	rs76833157	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q24.3	intergenic	rs76833157-C	0.008	1E-6		6.67	[2.75-16.17]	Illumina [1556551]	N
1843	chr2	164906819	164906820	rs16849225	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	2q24.3	GRB14, FIGN	rs16849225-C	0.61	4E-11	(Systolic)	0.75	[0.53-0.97] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1843	chr2	164915207	164915208	rs13002573	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	2q24.3	FIGN	rs13002573-G	0.20	2E-8	(Pulse Pressure)	0.31	[0.20-0.42] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1843	chr2	164963485	164963486	rs1446468	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	2q24.3	FIGN	rs1446468-T	0.53	6E-12	(Mean Arterial Pressure)	0.336	[0.24-0.44] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1844	chr2	165086746	165086747	rs11891401	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	2q24.3	GRB14, FIGN	rs11891401-T		2E-6	(EA, SBP, Age 50-59)	0.67	[0.4-0.94] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1847	chr2	165501848	165501849	rs3923113	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	2q24.3	GRB14	rs3923113-A	0.61	2E-6		1.04	[1.00-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
1847	chr2	165501848	165501849	rs3923113	21874001	Kooner JS	2011-08-28	Nat Genet	Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.	Type 2 diabetes	5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls	13,170 South Asian ancestry cases, 25,398 South Asian ancestry controls	2q24.3	GRB14	rs3923113-A	0.74	1E-8		1.09	[1.06-1.13]	Illumina [568976]	N
1847	chr2	165513090	165513091	rs10195252	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	GRB14, COBLL1	rs10195252-T	0.5926	6E-15	(EA)	0.027	[0.02-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1847	chr2	165513090	165513091	rs10195252	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	GRB14, COBLL1	rs10195252-T	0.5905	5E-30	(EA, women)	0.0519	[0.043-0.061] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1847	chr2	165513090	165513091	rs10195252	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	GRB14, COBLL1	rs10195252-T	0.5838	4E-16		0.0274	[0.021-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1847	chr2	165513090	165513091	rs10195252	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	GRB14, COBLL1	rs10195252-T	0.5807	2E-31	(women)	0.0524	[0.044-0.061] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1847	chr2	165513090	165513091	rs10195252	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	2q24.3	GRB14	rs10195252-T	0.60	2E-24		0.03	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
1847	chr2	165513090	165513091	rs10195252	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	2q24.3	COBLL1	rs10195252-C	0.4	2E-10		2.01	[1.27-2.75] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1847	chr2	165528623	165528624	rs1128249	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs1128249-G	0.5973	2E-15	(EA)	0.0276	[0.021-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1847	chr2	165528623	165528624	rs1128249	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs1128249-G	0.5949	2E-29	(EA, women)	0.052	[0.043-0.061] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1847	chr2	165528623	165528624	rs1128249	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs1128249-G	0.5884	1E-16		0.0283	[0.022-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1847	chr2	165528623	165528624	rs1128249	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs1128249-G	0.5846	5E-31	(women)	0.0526	[0.044-0.061] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1847	chr2	165528875	165528876	rs13389219	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Waist-hip ratio	4,774 European ancestry high waist-to-hip ratio individuals, 5,481 European ancestry low waist-to-hip ratio individuals	3,351 European ancestry high waist-to-hip ratio individuals, 3,352 European ancestry low waist-to-hip ratio individuals	2q24.3	COBLL1	rs13389219-C	0.57	3E-8		1.13	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1847	chr2	165539660	165539661	rs6717858	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	2q24.3	GRB14, COBLL1, SNORA70F	rs6717858-T		6E-16	(WHRadjBMI, women)			Affymetrix, Illumina [2846694] (imputed)	N
1847	chr2	165540799	165540800	rs12328675	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2q24.3	COBLL1	rs12328675-C	0.13	2E-15		0.045	[NR] unit increase	NR [NR] (imputed)	N
1847	chr2	165540799	165540800	rs12328675	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	2q24.3	COBLL1	rs12328675-C	0.13	3E-10		0.68	[0.44-0.92] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1848	chr2	165551200	165551201	rs7607980	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	2q24.3	GRB14, COBLL1	rs7607980-?		4E-20				Affymetrix, Illumina [~ 2400000] (imputed)	N
1848	chr2	165554308	165554309	rs12692737	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs12692737-A	0.3162	1E-10	(women)	0.0319	[0.022-0.042] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1848	chr2	165554308	165554309	rs12692737	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs12692737-A	0.3003	4E-10	(EA, women)	0.0319	[0.022-0.042] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1848	chr2	165558251	165558252	rs12692738	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs12692738-T	0.7618	8E-11	(EA)	0.0262	[0.018-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1848	chr2	165558251	165558252	rs12692738	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs12692738-T	0.7603	4E-23	(EA, women)	0.0527	[0.042-0.063] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1848	chr2	165558251	165558252	rs12692738	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs12692738-T	0.7426	2E-11		0.0262	[0.019-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1848	chr2	165558251	165558252	rs12692738	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q24.3	COBLL1	rs12692738-T	0.7413	4E-23	(women)	0.0512	[0.041-0.061] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1848	chr2	165577163	165577164	rs10221833	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	2q24.3	GRB14, COBLL1, LOC728184	rs10221833-C	0.09	6E-6	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
1849	chr2	165685645	165685646	rs355810	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q24.3	COBLL1	rs355810-A	0.62	1E-6		0.015	[0.0089-0.0207] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1849	chr2	165685645	165685646	rs355810	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q24.3	COBLL1	rs355810-A	0.617	5E-6	(EA)	0.014	[0.0081-0.0203] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1849	chr2	165710539	165710540	rs143000161	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	2q24.3	SLC38A11, COBLL1	rs143000161-A	0.92	2E-6	(Left HG thickness)	0.0566	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
1849	chr2	165750389	165750390	rs13424957	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Type 2 diabetes	1,264 African American cases, 5,678 African American controls	503 African American cases, 1,656 African American controls	2q24.3	intergenic	rs13424957-?	0.81	3E-6	(T2D)	1.242236	[1.14-1.36]	Affymetrix [~ 2740000] (imputed)	N
1850	chr2	165890732	165890733	rs776488	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	2q24.3	NR	rs776488-?	NR	2E-7	(footedness)			Illumina [535076]	N
1852	chr2	166144413	166144414	rs16850317	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	2q24.3	SCN2A	rs16850317-T	0.94	5E-6	(Age 20-60 years)	0.3519	[0.20-0.50] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1853	chr2	166234631	166234632	rs3769955	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-unrelated)	1,070 European ancestry cases, 4,118 European ancestry controls	Up to 1,034 European ancestry cases, Up to 1,645 European ancestry controls	2q24.3	SCN2A	rs3769955-T	0.4	2E-7		1.22	[1.13-1.31]	Illumina [8129384] (imputed)	N
1853	chr2	166234631	166234632	rs3769955	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	2q24.3	SCN2A	rs3769955-T	0.4	4E-6		1.22	[1.12-1.33]	Illumina [8129524] (imputed)	N
1853	chr2	166234631	166234632	rs3769955	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures	929 European ancestry MMR vaccine-related febrile seizures cases, 1,070 European ancestry MMR vaccine-unrelated febrile seizures cases, 4,118 European ancestry controls	Up to 408 European ancestry MMR vaccine-related febrile seizures cases, Up to 1,034 European ancestry MMR vaccine-unrelated febrile seizures cases, Up to 1,645 European ancestry controls	2q24.3	SCN2A	rs3769955-T	0.4	3E-10	(Overall)	1.22	[1.15-1.30]	Illumina [up to 8129553] (imputed)	N
1854	chr2	166370825	166370826	rs6432832	24688116	Deelen J	2014-03-31	Hum Mol Genet	Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.	Longevity (85 years and older)	7,729 European ancestry cases, 16,121 European ancestry controls	13,060 European ancestry cases, 61,156 European ancestry controls	2q24.3	CSRNP3	rs6432832-A	0.339	9E-6		1.06	[1.03-1.09]	Illumina [2480356] (imputed)	N
1855	chr2	166578113	166578114	rs6726821	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	2q24.3	GALNT3	rs6726821-T	NR	2E-6	(EA)	0.0789	[0.047-0.111] unit increase	Illumina [~ 2500000] (imputed)	N
1855	chr2	166578113	166578114	rs6726821	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	2q24.3	GALNT3	rs6726821-T	0.54	1E-8		0.083	[0.054-0.112] unit increase	Illumina [~ 2500000] (imputed)	N
1855	chr2	166578113	166578114	rs6726821	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	2q24.3	GALNT3	rs6726821-T	NR	7E-8	(EA)	0.0889	[0.057-0.121] unit increase	Illumina [~ 2500000] (imputed)	N
1855	chr2	166578113	166578114	rs6726821	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	2q24.3	GALNT3	rs6726821-T	0.54	4E-10		0.091	[0.062-0.120] unit increase	Illumina [~ 2500000] (imputed)	N
1855	chr2	166583243	166583244	rs6710518	21533022	Duncan EL	2011-04-21	PLoS Genet	Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.	Bone mineral density	900 European ancestry female individuals with low hip bone mineral density, 1,055 European ancestry female individuals with high hip bone mineral density	20,898 European ancestry female individuals	2q24.3	GALNT3	rs6710518-T	NR	5E-10	(femoral neck)	0.064	[NR] unit decrease	Illumina [2543887] (imputed)	N
1856	chr2	166601045	166601046	rs1346004	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	2q24.3	GALNT3	rs1346004-A	0.5	5E-7		0.08	unit decrease	Illumina [~ 2500000] (imputed)	N
1856	chr2	166601045	166601046	rs1346004	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	2q24.3	GALNT3	rs1346004-A	0.5	4E-30	(LSBMD)	0.06	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1856	chr2	166714080	166714081	rs2304003	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	2q24.3	KIAA1992	rs2304003-T	0.26	9E-6	(Age 17)	0.14	[0.081-0.199] unit increase	Illumina [2293137] (imputed)	N
1857	chr2	166813724	166813725	rs74338693	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q24.3	NR	rs74338693-G	NR	7E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1858	chr2	166858390	166858391	rs12987787	25087078	Anney RJ	2014-07-30	Lancet Neurol	Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.	Epilepsy	405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls	NA	2q24.3	SCN1A	rs12987787-T	0.79	1E-7	(Focal epilepsy)	1.12	[1.01-1.14]	Affymetrix, Illumina [NR] (imputed)	N
1858	chr2	166895065	166895066	rs6732655	25087078	Anney RJ	2014-07-30	Lancet Neurol	Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.	Epilepsy	405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls	NA	2q24.3	SCN1A	rs6732655-T	0.78	9E-10	(All epilepsy)	1.12	[1.08-1.16]	Affymetrix, Illumina [NR] (imputed)	N
1858	chr2	166897863	166897864	rs6432860	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-unrelated)	1,070 European ancestry cases, 4,118 European ancestry controls	Up to 1,034 European ancestry cases, Up to 1,645 European ancestry controls	2q24.3	SCN1A	rs6432860-G	0.704	2E-9		1.29	[1.19-1.40]	Illumina [8129384] (imputed)	N
1858	chr2	166897863	166897864	rs6432860	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures	929 European ancestry MMR vaccine-related febrile seizures cases, 1,070 European ancestry MMR vaccine-unrelated febrile seizures cases, 4,118 European ancestry controls	Up to 408 European ancestry MMR vaccine-related febrile seizures cases, Up to 1,034 European ancestry MMR vaccine-unrelated febrile seizures cases, Up to 1,645 European ancestry controls	2q24.3	SCN1A	rs6432860-G	0.704	2E-16	(Overall)	1.34	[1.25-1.43]	Illumina [up to 8129553] (imputed)	N
1858	chr2	166942139	166942140	rs11904006	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	2q24.3	intergenic	rs11904006-?	NR	6E-6	(SF1)			Affymetrix [5476100] (imputed)	N
1858	chr2	166943276	166943277	rs11890028	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	2q24.3	SCN1A	rs11890028-T	0.688	4E-6	(All GGE)	1.18	[1.09-1.27]	Affymetrix [4560000] (imputed)	N
1858	chr2	166945366	166945367	rs13004083	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	2q24.3	SCN1A	rs13004083-A	0.765	3E-12		1.47	[1.32-1.63]	Illumina [8129524] (imputed)	N
1858	chr2	166978749	166978750	rs7587026	24014518	Kasperaviciute D	2013-09-06	Brain	Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.	Mesial temporal lobe epilepsy with hippocampal sclerosis	up to 1,018 European ancestry cases, 7,552 European ancestry controls	959 European ancestry cases, 3,591 European ancestry controls	2q24.3	SCN1A	rs7587026-A	0.263	4E-8	(MTLEHS vs. Controls)	1.24	[1.15-1.34]	Illumina [531164]	N
1858	chr2	166978749	166978750	rs7587026	24014518	Kasperaviciute D	2013-09-06	Brain	Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.	Mesial temporal lobe epilepsy with hippocampal sclerosis	up to 1,018 European ancestry cases, 7,552 European ancestry controls	959 European ancestry cases, 3,591 European ancestry controls	2q24.3	SCN1A	rs7587026-A	0.263	3E-9	(MTLEHS+FS vs. Controls)	1.42	[1.26-1.59]	Illumina [531164]	N
1860	chr2	167161369	167161370	rs72882854	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q24.3	NR	rs72882854-A	NR	6E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1860	chr2	167177358	167177359	rs4438497	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	2q24.3	SCN9A	rs4438497-?	NR	7E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1861	chr2	167377977	167377978	rs13015447	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	2q24.3	SCN7A	rs13015447-G	0.34	7E-6	(site of onset)	1.41	[NR]	Illumina [288357]	N
1866	chr2	167992285	167992286	rs6720763	25865352	Schaarschmidt H	2015-04-10	J Allergy Clin Immunol	A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.	Atopic dermatitis	870 European ancestry cases, 5,293 European ancestry controls	1,383  European ancestry cases, 1,728 European ancestry controls	2q24.3	XIRP2	rs6720763-C	0.18	4E-8		1.29	[NR]	Affymetrix [1623390] (imputed)	N
1867	chr2	168159350	168159351	rs10497324	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (parent-of-origin)	1,024 European ancestry individuals	NA	2q24.3	intergenic	rs10497324-A	0.04	2E-9	(KvDMR 21)			Illumina [515966]	N
1871	chr2	168565692	168565693	rs13408808	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q24.3	CTAGE14P	rs13408808-G	0.083	8E-6	(Diet fat )	0.04	[NR] %energy increase	Illumina [899892]	N
1871	chr2	168641969	168641970	rs1004368	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q24.3	B3GALT1	rs1004368-G	0.103	2E-6	(Amylin )	0.03	[NR] pM increase	Illumina [899892]	N
1874	chr2	169041385	169041386	rs6749447	19114657	Wang Y	2008-12-29	Proc Natl Acad Sci U S A	From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.	Blood pressure	542 Old Order Amish individuals	5,229 European ancestry individuals, 1,347 Amish individuals, 575 Hutterite individuals	2q24.3	STK39	rs6749447-G	0.28	2E-7		1.9	[1.2-2.6] mm Hg increase in DBP	Affymetrix [79447]	N
1875	chr2	169110393	169110394	rs1474055	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	2q24.3	STK39	rs1474055-T	0.128	1E-20		1.214	[1.17-1.26]	Illumina [7893274] (imputed)	N
1875	chr2	169117024	169117025	rs2102808	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	2q24.3	STK39	rs2102808-C	0.12	4E-10		1.18	[1.12-1.24]	Illumina [7689524] (imputed)	N
1875	chr2	169143034	169143035	rs9917256	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	2q24.3	intergenic	rs9917256-?	NR	3E-6		1.19	[NR]	Illumina [2500000] (imputed)	N
1877	chr2	169389090	169389091	rs13393173	18615156	Liu C	2008-07-10	Mol Med	Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.	Response to TNF antagonist treatment	89 European ancestry cases	NA	2q24.3	LASS6	rs13393173-A	0.12	4E-6				Illumina [283348]	N
1879	chr2	169703659	169703660	rs531864	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	2q24.3	NOSTRIN	rs531864-?	NR	8E-6	(Females)		[NR]	Illumina [283437]	N
1880	chr2	169754845	169754846	rs13387347	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	2q24.3	G6PC2, ABCC11	rs13387347-?	NR	2E-36		0.114	[0.096-0.132] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
1880	chr2	169757353	169757354	rs1402837	19096518	Pare G	2008-12-19	PLoS Genet	Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.	Glycated hemoglobin levels	14,618 European ancestry females	455 European ancestry individuals	2q31.1	G6PC2	rs1402837-A	0.23	5E-10		0.02	[NR] % increase	Illumina [337343]	N
1880	chr2	169763147	169763148	rs560887	24405752	An P	2013-12-04	Metabolism	Genome-wide association study identifies common loci influencing circulating glycated hemoglobin (HbA1c) levels in non-diabetic subjects: the Long Life Family Study (LLFS).	Glycated hemoglobin levels	4,088 European ancestry non-diabetic elderly individuals	up to 47,822 European ancestry non-diabetic elderly individuals	2q31.1	G6PC2	rs560887-T	0.33	1E-17		0.032	[0.024-0.040] unit decrease	Illumina [9250000] (imputed)	N
1880	chr2	169763147	169763148	rs560887	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	2q31.1	G6PC2	rs560887-T	0.291	2E-16	(FPG)	0.0061	[NR] unit decrease	Illumina [up to 945994] (imputed)	N
1880	chr2	169763147	169763148	rs560887	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	2q31.1	G6PC2	rs560887-?	0.31	4E-15				Illumina [~ 2000000] (imputed)	N
1880	chr2	169763147	169763148	rs560887	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	2q31.1	G6PC2	rs560887-?	NR	2E-113				Affymetrix, Illumina [~ 2400000] (imputed)	N
1880	chr2	169763147	169763148	rs560887	22508271	Rasmussen-Torvik LJ	2012-04-16	Genet Epidemiol	Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).	Fasting plasma glucose	2,349 European ancestry individuals, 664 Chinese ancestry individuals, 1,366 African American individuals, 1,171 Hispanic individuals	NA	2q31.1	G6PC2	rs560887-T	0.20	2E-6	(fasting glucose)	1.29	[0.84-1.74] mg/dL decrease	Affymetrix [NR] (imputed)	N
1880	chr2	169763147	169763148	rs560887	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	2q31.1	G6PC2	rs560887-G	0.69	5E-26	(GLU)	0.15	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
1880	chr2	169763147	169763148	rs560887	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	2q31.1	G6PC2	rs560887-?	NR	2E-17	(Glc)	0.15	[0.11-0.19] unit increase	Illumina [~ 7700000] (imputed)	N
1880	chr2	169763147	169763148	rs560887	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	2q31.1	G6PC2	rs560887-C	0.70	9E-218	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1880	chr2	169763147	169763148	rs560887	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	2q31.1	G6PC2	rs560887-C	0.70	2E-66	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1880	chr2	169763147	169763148	rs560887	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	2q31.1	G6PC2, ABCB11	rs560887-A	0.31	6E-10	(GLU)	0.06	[0.04-0.07] mmol/l decrease	Illumina [329091]	N
1880	chr2	169763147	169763148	rs560887	19060907	Prokopenko I	2008-12-01	Nat Genet	Variants in MTNR1B influence fasting glucose levels.	Fasting plasma glucose	35,812 European ancestry individuals	NA	2q31.1	G6PC2	rs560887-C	0.70	1E-57		0.06	[0.05-0.07] mmol/l increase	Affymetrix, Illumina, Perlegen [up to 2557249] (imputed)	N
1880	chr2	169763147	169763148	rs560887	18451265	Bouatia-Naji N	2008-06-19	Science	A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels.	Fasting plasma glucose	654 European ancestry individuals	9,353 European ancestry individuals	2q31.1	G6PC2	rs560887-A	0.30	4E-23		0.06	[0.05-0.08] mmol/l decrease	Illumina [392935]	N
1880	chr2	169774070	169774071	rs563694	18521185	Chen WM	2008-06-04	J Clin Invest	Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.	Fasting plasma glucose	5,088 European ancestry individuals	18,436 European ancestry individuals	2q31.1	G6PC2, ABCB11	rs563694-C	0.34	4E-7				Illumina [315635]	N
1880	chr2	169782879	169782880	rs569805	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	2q31.1	ABCB11	rs569805-A	NR	9E-8	(HDLC-GLUC)	0.16	[0.10-0.22] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1880	chr2	169784412	169784413	rs16856247	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	2q31.1	ABCB11	rs16856247-T	0.35	2E-15	(FPG)	0.0556	[0.042-0.069] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
1880	chr2	169791437	169791438	rs552976	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	2q31.1	G6PC2, ABCB11	rs552976-G	0.64	8E-18		0.05	[0.04-0.06] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1880	chr2	169792170	169792171	rs3755157	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	2q31.1	G6PC2, ABCB11	rs3755157-T	0.34	3E-11		0.07	[0.050-0.090] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
1880	chr2	169817712	169817713	rs16823014	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Egg allergy	217 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 688 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	2q31.1	ABCB11	rs16823014-?	NR	4E-6				Illumina [6459842] (imputed)	N
1880	chr2	169830154	169830155	rs2287623	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	2q31.1	ABCB11	rs2287623-G	0.41	4E-12		0.027	[NR] unit increase	NR [NR] (imputed)	N
1880	chr2	169840573	169840574	rs16856332	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	2q31.1	ABCB11	rs16856332-T	0.96	2E-9		3.9	[1.20-6.70] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1880	chr2	169853219	169853220	rs11568377	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	2q31.1	ABCB11	rs11568377-A	0.17	4E-6		1.64	[0.95-2.33] mmHg decrease	Illumina [1019297] (imputed)	N
1882	chr2	170094168	170094169	rs2268365	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	2q31.1	LRP2	rs2268365-?	NR	5E-8	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1883	chr2	170133085	170133086	rs830998	21079607	Wang K	2010-11-16	Mol Psychiatry	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	Anorexia nervosa	1,033 European ancestry cases, 3,733 European ancestry controls	NA	2q31.1	LRP2	rs830998-?	0.19	9E-6				Illumina [~ 598000]	N
1883	chr2	170204845	170204846	rs2544390	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Urate levels	8,868 Japanese ancestry individuals	NA	2q31.1	LRP2	rs2544390-C	0.49	4E-8		0.082	[0.053-0.111] unit decrease	Illumina [561583]	N
1886	chr2	170624220	170624221	rs2114646	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q31.1	KLHL23	rs2114646-G	0.494	6E-6	(Amylin )	0.03	[NR] pM increase	Illumina [899892]	N
1887	chr2	170776520	170776521	rs13012722	26268530	Ramanan VK	2015-08-11	Brain	GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.	Longitudinal change in brain amyloid plaque burden	41 European ancestry Alzheimer's disease cases, 294 European ancestry Mild Cognitive Impairment cases, 160 European ancestry cognitively normal individuals	NA	2q31.1	UBR3	rs13012722-?	0.49	2E-7		0.45	[0.27-0.63] unit decrease	Illumina [6112217] (imputed)	N
1891	chr2	171190116	171190117	rs16858164	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	2q31.1	UBR3, MYO3B, SP5	rs16858164-G	0.03	2E-6		0.253	[0.15-0.36] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1891	chr2	171256596	171256597	rs7561268	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q31.1	MYO3B	rs7561268-C	0.297	2E-6	(Amylin )	0.03	[NR] pM increase	Illumina [899892]	N
1892	chr2	171318893	171318894	rs2118674	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		2q31.1	MY03B	rs2118674-A	NR	4E-7		0.0498	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1892	chr2	171365888	171365889	rs10176755	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2q31.1	MYO3B	rs10176755-G	0	7E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1893	chr2	171461131	171461132	rs6749331	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q31.1	MYO3B	rs6749331-G	0.121	3E-6	(Total antioxidants )	0.03	[NR] mM increase	Illumina [899892]	N
1893	chr2	171540822	171540823	rs2080401	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe size	4,919 Latin American individuals	NA	2q31.1	SP5	rs2080401-C	0.6	1E-10		0.096	unit decrease	Illumina [671038]	N
1893	chr2	171540822	171540823	rs2080401	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe attachment	4,919 Latin American individuals	NA	2q31.1	SP5	rs2080401-C	0.6	9E-12		0.071	unit decrease	Illumina [671038]	N
1893	chr2	171540822	171540823	rs2080401	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear morphology	4,919 Latin American individuals	NA	2q31.1	SP5	rs2080401-C	0.6	3E-8				Illumina [671038]	N
1893	chr2	171540822	171540823	rs2080401	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	2q31.1	intergenic	rs2080401-A	0.62	7E-6		0.0723	[0.041-0.104] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1895	chr2	171733224	171733225	rs4668338	18759275	McArdle PF	2008-09-01	Arthritis Rheum	Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.	Uric acid levels	408 Old Order Amish female individuals, 460 Old Order Amish male individuals	Framingham Heart Study (Sample size NR)	2q31.1	NR	rs4668338-?	NR	3E-6		4.29	[NR] mg/dl decrease in uric acid levels	Affymetrix [361034]	N
1895	chr2	171822465	171822466	rs4668356	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	2q31.1	GORASP2	rs4668356-?	0.06041	1E-6	(PAL8)			Illumina [475971]	N
1897	chr2	171990970	171990971	rs10183486	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	2q31.1	TLK1	rs10183486-T	0.366	2E-14		0.196	[0.15-0.25] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
1898	chr2	172127919	172127920	rs4667682	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q31.1	METTL8	rs4667682-T	0.174	3E-6		0.018	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1898	chr2	172127919	172127920	rs4667682	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	2q31.1	METTL8	rs4667682-C	0.82	5E-6	(White matter hyperintensities)			Illumina [2131250] (imputed)	N
1901	chr2	172533304	172533305	rs11690935	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q31.1	NR	rs11690935-G	NR	6E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1901	chr2	172570418	172570419	rs950173	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	2q31.1	DYNC1I2	rs950173-A		9E-7		167.4	[100.56-234.24] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
1902	chr2	172680677	172680678	rs1400816	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2q31.1	SLC25A12	rs1400816-?		1E-6				Illumina [859311]	N
1903	chr2	172833138	172833139	rs13004237	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA		NR	rs13004237-G	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1904	chr2	172972357	172972358	rs1001780	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q31.1	NR	rs1001780-G	NR	8E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1904	chr2	172972970	172972971	rs2016394	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	2q31.1	METAP1D, DLX1, DLX2	rs2016394-G	0.52	1E-8		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1907	chr2	173311552	173311553	rs12621278	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	2q31.1	ITGA6	rs12621278-?	0.94	9E-23		1.33	[1.25-1.43]	Illumina [541129]	N
1908	chr2	173493077	173493078	rs836589	22704111	Hotaling JM	2012-06-13	J Urol	Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.	Erectile dysfunction in type 1 diabetes	125 European ancestry cases, 403 European ancestry controls	NA	2q31.1	PDK1	rs836589-A	0.186	2E-6				Illumina [840354]	N
1909	chr2	173546312	173546313	rs733331	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	2q31.1	PDK1, RAPGEF4	rs733331-?	NR	7E-11		0.036	[0.024-0.048] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
1910	chr2	173789112	173789113	rs80196851	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	2q31.1	RAPGEF4	rs80196851-A		9E-6		460.86	[258.00-663.72] unit increase	Affymetrix, Illumina [at least 646791] (imputed)	N
1913	chr2	174114138	174114139	rs10497399	26299439	Li WD	2015-08-24	Sci Rep	Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.	Adiponectin levels	737 European ancestry females	NA	2q31.1	ZAK	rs10497399-?		2E-6				Illumina [up to 550000]	N
1914	chr2	174212893	174212894	rs1550623	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	2q31.1	CDCA7	rs1550623-A	0.84	3E-8		1.06	[1.03-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1914	chr2	174297658	174297659	rs10497394	23974705	Allen EK	2013-08-23	J Assoc Res Otolaryngol	A genome-wide association study of chronic otitis media with effusion and recurrent otitis media identifies a novel susceptibility locus on chromosome 2.	Otitis media (chronic/recurrent)	373 cases and 229 controls from 143 families	932 European ancestry cases and 652 European ancestry controls from 441 families	2q31.1	CDCA7, SP3	rs10497394-G	0.637	2E-8		1.51	[1.30-1.70]	Illumina [324748]	N
1915	chr2	174326844	174326845	rs10930597	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	2q31.1	CDCA7	rs10930597-T	0.05	7E-6	(SBP, during intervention)	3.72	[2.09-5.35] mmHg decrease	Affymetrix [2216774] (imputed)	N
1915	chr2	174326844	174326845	rs10930597	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	2q31.1	CDCA7	rs10930597-T	0.05	5E-7	(DBP, during intervention)	3.11	[1.89-4.33] mmHg decrease	Affymetrix [2216774] (imputed)	N
1915	chr2	174326844	174326845	rs10930597	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	2q31.1	CDCA7	rs10930597-T	0.05	4E-8	(MAP, during intervention)	3.37	[2.17-4.57] mmHg decrease	Affymetrix [2216774] (imputed)	N
1915	chr2	174326844	174326845	rs10930597	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	2q31.1	CDCA7	rs10930597-T	0.05	6E-6	(SBP, during intervention)	3.99	[2.27-5.71] mmHg decrease	Affymetrix [2216774] (imputed)	N
1915	chr2	174326844	174326845	rs10930597	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	2q31.1	CDCA7	rs10930597-T	0.05	4E-8	(DBP, during intervention)	3.2	[2.06-4.34] mmHg decrease	Affymetrix [2216774] (imputed)	N
1915	chr2	174326844	174326845	rs10930597	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	2q31.1	CDCA7	rs10930597-T	0.05	1E-8	(MAP, during intervention)	3.48	[2.28-4.68] mmHg decrease	Affymetrix [2216774] (imputed)	N
1915	chr2	174362348	174362349	rs7590983	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	2q31.1	intergenic	rs7590983-?	0.05	6E-6	(BMI)	0.46	[0.26-0.66] kg/m2 increase	Illumina [316730]	N
1916	chr2	174462853	174462854	rs4972593	24029427	Sandholm N	2013-09-12	J Am Soc Nephrol	Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes.	End-stage renal disease in Type 1 diabetics	258 European ancestry female cases, 935 European ancestry female controls, 387 European ancestry male cases, 655 European ancestry male controls	178 European ancestry female cases, 594 European ancestry female controls, 251 European ancestry male cases, 494 European ancestry male controls, 252 female cases, 479 female controls, 256 male cases, 342 male controls	2q31.1	CDCA7, SP3	rs4972593-A	0.14	4E-8	(Women)	1.81	[1.47-2.24]	Illumina [2400000] (imputed)	N
1916	chr2	174504923	174504924	rs13028485	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		2q31.1	NR	rs13028485-A	0.06	2E-6	(t11;14 vs non t11;14)	2.17	[1.57-2.99]	Illumina [414804] (imputed)	N
1918	chr2	174742607	174742608	rs938291	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	2q31.1	SP3	rs938291-G	0.39	6E-10		0.53	[0.35-0.71] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1921	chr2	175241457	175241458	rs149110600	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q31.1	NR	rs149110600-A	NR	6E-6		1.11	[NR]	Illumina [7158791] (imputed)	N
1923	chr2	175377564	175377565	rs12693043	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	28,610 European ancestry individuals	13,959 European ancestry individuals	2q31.1	GPR155, WIPF1	rs12693043-C	0.56	1E-7	(Combined gender)	0.008	[0.0041-0.0119] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1929	chr2	176239848	176239849	rs4972755	20351715	Liu Y	2010-03-30	Mol Psychiatry	Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.	Bipolar disorder or major depressive disorder (combined)	4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls	NA	2q31.1	intergenic	rs4972755-?	NR	3E-6				Affymetrix, Perlegen [1472580] (imputed)	N
1929	chr2	176289318	176289319	rs2461751	19389651	Smith JG	2009-02-15	Heart Rhythm	Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.	Electrocardiographic conduction measures	1,262 Kosraen individuals	NA	2q31.1	intergenic	rs2461751-G	0.44	8E-6	(PR interval)	4.54	[2.58-6.50] ms increase	Affymetrix [338049]	N
1932	chr2	176654737	176654738	rs7566934	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	2q31.1	EXTL2P1	rs7566934-A	0.29	7E-6	(simple RT)	0.13	[0.07-0.19] unit decrease	Illumina [~ 610000]	N
1933	chr2	176717740	176717741	rs9287989	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	2q31.1	KIAA1715, EVX2, EXTLP2	rs9287989-C	0.484	4E-6	(A. actino)	1.8	[1.39-2.33]	Affymetrix [~ 2500000] (imputed)	N
1933	chr2	176734597	176734598	rs4972489	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q31.1	KIAA1715	rs4972489-C	0.366	8E-6	(Energy intake )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1933	chr2	176734597	176734598	rs4972489	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q31.1	KIAA1715	rs4972489-C	0.366	8E-6	(Diet protein )	0.03	[NR] g/d increase	Illumina [899892]	N
1933	chr2	176784137	176784138	rs1020410	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q31.1	KIAA1715	rs1020410-G	0.268	6E-7	(Calorimeter activity )	0.04	[NR] counts/d increase	Illumina [899892]	N
1935	chr2	176981342	176981343	rs7601234	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2q31.1	HOXD10	rs7601234-?	NR	1E-6				Illumina [859311]	N
1935	chr2	176991778	176991779	rs2592394	20700443	Meyer TE	2010-08-05	PLoS Genet	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	Magnesium levels	15,366 European ancestry individuals	8,463 European ancestry individuals	2q31.1	HOXD9	rs2592394-A	0.30	5E-7		0.0	[0.002-0.006] mmol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1935	chr2	177012577	177012578	rs4972806	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q31.1	NR	rs4972806-C	0.635161429906542	8E-6	(IGP47)	0.1425	[0.08-0.205] unit increase	Illumina [~ 2500000] (imputed)	N
1935	chr2	177022157	177022158	rs2551802	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	2q31.1	HOXD	rs2551802-G	0.697	2E-12		0.04	[0.029-0.052] unit increase	Illumina [7428049] (imputed)	N
1935	chr2	177037310	177037311	rs711830	26075790	Kelemen LE	2015-06-15	Nat Genet	Genome-wide significant risk associations for mucinous ovarian carcinoma.	Mucinous ovarian carcinoma	1,003 European ancestry invasive cases, 641 European ancestry low malignant potential cases, 21,693 European ancestry controls	NA	2q31.1	HOXD3	rs711830-?	0.32	8E-7	(Invasive Only)	1.26	[1.15-1.39]	Illumina [15504273] (imputed)	N
1935	chr2	177037310	177037311	rs711830	26075790	Kelemen LE	2015-06-15	Nat Genet	Genome-wide significant risk associations for mucinous ovarian carcinoma.	Mucinous ovarian carcinoma	1,003 European ancestry invasive cases, 641 European ancestry low malignant potential cases, 21,693 European ancestry controls	NA	2q31.1	HOXD3	rs711830-?	0.32	8E-12		1.3	[1.20-1.40]	Illumina [15504273] (imputed)	N
1935	chr2	177042632	177042633	rs2072590	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	2q31.1	HOXD1	rs2072590-A	0.68	9E-14		1.14	[1.10-1.19]	Illumina [up to 10962898] (imputed)	N
1935	chr2	177042632	177042633	rs2072590	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	2q31.1	NR	rs2072590-?	0.32	5E-11	(All invasive)	1.11	[1.08-1.15]	Illumina [2508744] (imputed)	N
1935	chr2	177042632	177042633	rs2072590	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	2q31.1	NR	rs2072590-?	0.32	3E-10	(Serious invasive)	1.13	[1.09-1.18]	Illumina [2508744] (imputed)	N
1935	chr2	177042632	177042633	rs2072590	20852632	Goode EL	2010-09-19	Nat Genet	A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.	Ovarian cancer	1,768 European ancestry cases, 2,354 European ancestry controls	8,709 European ancestry cases, 51,764 European ancestry controls	2q31.1	HOXD1, HOXD3	rs2072590-T	NR	5E-14		1.16	[1.12-1.21]	Illumina [2056878] (imputed)	N
1942	chr2	177909594	177909595	rs1529093	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	2q31.1	intergenic	rs1529093-A	0.41	2E-6	(BallonTT)	4.13	[NR] unit increase	Illumina [324623]	N
1948	chr2	178680430	178680431	rs13413635	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	2q31.2	PDE11A	rs13413635-G	0.033	3E-7				Affymetrix, Illumina [2516789] (imputed)	N
1948	chr2	178684719	178684720	rs7567851	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2q31.2	PDE11A	rs7567851-C	0.08	3E-8		0.037	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1950	chr2	178955021	178955022	rs145244554	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q31.2	NR	rs145244554-?	NR	5E-6	(EA)	0.6734	[0.39-0.96] unit increase	Illumina [up to 11892802] (imputed)	N
1951	chr2	179104297	179104298	rs34479159	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	2q31.2	TTN	rs34479159-C	0.19	6E-6		0.089	[0.050-0.128] cup size increase	Illumina [7422970] (imputed)	N
1952	chr2	179248419	179248420	rs7580640	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	2q31.2	NR	rs7580640-C	0.80	3E-6		3.64	[2.13-5.15] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1952	chr2	179296270	179296271	rs9283487	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	2q31.2	PRKRA	rs9283487-?	NR	3E-7	(OCB positive vs. controls)	1.61	[1.33-1.92]	Illumina [495970]	N
1952	chr2	179300970	179300971	rs62176107	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	2q31.2	PRKRA, miRNA548n	rs62176107-?	NR	1E-34	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
1955	chr2	179641974	179641975	rs12476289	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	2q31.2	TTN	rs12476289-A	0.07	2E-6		0.29	[0.17-0.41] unit increase	Illumina [~ 318327]	N
1955	chr2	179689855	179689856	rs7561149	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	2q31.2	TTN, CCDC141	rs7561149-C	0.42	7E-9		0.52	[0.34-0.7] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1956	chr2	179721045	179721046	rs17362588	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	2q31.2	CCDC141	rs17362588-A	0.114	4E-26		0.736	[0.59-0.89] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1956	chr2	179738268	179738269	rs11693319	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (cold pressor test)	1,881 Han Chinese ancestry individuals	698 Han Chinese ancestry individuals	2q31.2	CCDC141	rs11693319-T	0.02	2E-7	(SBP)	4.72	[2.94-6.50] mmHg decrease	Affymetrix [2216774] (imputed)	N
1957	chr2	179856776	179856777	rs1032833	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	2q31.2	NR	rs1032833-?	NR	7E-6		10.76	[6.24-15.28] unit decrease	Illumina [498648]	N
1959	chr2	180146274	180146275	rs6733818	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	2q31.2	intergenic	rs6733818-G	0.4	7E-6		1.1	[1.05-1.15]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1959	chr2	180216730	180216731	rs13403289	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	2q31.2	SESTD1	rs13403289-?	0.3857	6E-6	(ACL, LAC, or anti-B2 GPI)	2.423	[NR]	Affymetrix [906600]	N
1960	chr2	180334968	180334969	rs12478234	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q31.2	NR	rs12478234-A	NR	1E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
1962	chr2	180566677	180566678	rs16866933	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	2q31.3	ZNF385B	rs16866933-?	0.09	6E-14	(Recessive)	1.69	[1.48-1.93]	Affymetrix [319222]	N
1964	chr2	180841913	180841914	rs12693217	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q31.3	NR	rs12693217-G	NR	7E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1966	chr2	181041285	181041286	rs16867225	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	2q31.3	CWC22	rs16867225-?	NR	3E-6	(rs1859962)	1.5625	[1.3-1.89]	Affymetrix, Illumina [1117531] (imputed)	N
1966	chr2	181076748	181076749	rs13418455	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	2q31.3	intergenic	rs13418455-T		1E-6	(Modelling analysis)	1.06	[1.04-1.09]	NR [1252901] (imputed)	N
1968	chr2	181362378	181362379	rs16867321	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	2q31.3	UBE2E3	rs16867321-?	NR	2E-6	(obesity)			Illumina [~ 550000]	N
1968	chr2	181366250	181366251	rs1840108	25387707	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of antisaccade eye tracking error rate: A genome-wide association study.	Anti-saccade response	4,469 European ancestry twins and their parents	NA	2q31.3	intergenic	rs1840108-?	NR	6E-6		0.04	[0.022-0.058] unit increase	Illumina [527829]	N
1969	chr2	181458933	181458934	rs16867335	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	2q31.3	intergenic	rs16867335-?		4E-6	(overall survival)	3.27	[1.98-5.42]	Illumina [729737]	N
1969	chr2	181513728	181513729	rs918959	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	2q31.3	intergenic	rs918959-?	0.91	2E-6	(anti-dsDNA -)	1.72	[1.39-2.17]	Illumina [421318] (imputed)	N
1970	chr2	181550961	181550962	rs1528435	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q31.3	UBE2E3	rs1528435-T	0.632	4E-8	(EA, men)	0.023	[0.015-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1970	chr2	181550961	181550962	rs1528435	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q31.3	UBE2E3	rs1528435-T	0.631	5E-9		0.018	[0.012-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1970	chr2	181550961	181550962	rs1528435	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q31.3	UBE2E3	rs1528435-T	0.631	1E-8	(EA)	0.018	[0.012-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1973	chr2	181996044	181996045	rs13010713	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	2q31.3	ITGA4, UBE2E3	rs13010713-G	0.45	5E-11		1.13	[1.09-1.18]	Illumina [292387]	N
1973	chr2	182007799	182007800	rs1018326	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	2q31.3	NR	rs1018326-C	0.45	2E-6		1.24	[1.15-1.33]	Illumina [288662]	N
1975	chr2	182261868	182261869	rs7602460	21041692	Denny JC	2010-11-01	Circulation	Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.	Atrioventricular conduction	2,334 European ancestry individuals	NA	2q31.3	intergenic	rs7602460-A	0.40	6E-6		2.42	[1.36-3.48] ms decrease	Illumina [514999]	N
1975	chr2	182316246	182316247	rs147084229	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q31.3	NR	rs147084229-?	NR	8E-7	(EA)	0.7441	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1975	chr2	182319300	182319301	rs1449263	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	2q31.3	ITGA4	rs1449263-C	0.626	8E-8	(Japanese)	0.033	[0.021-0.045] unit decrease	Illumina [NR] (imputed)	N
1975	chr2	182319300	182319301	rs1449263	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	2q31.3	ITGA4	rs1449263-C	0.541	7E-14	(EA)	0.036	[0.026-0.046] unit decrease	Illumina [NR] (imputed)	N
1975	chr2	182319300	182319301	rs1449263	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	2q31.3	CERKL, ITGA4	rs1449263-T		3E-23	(Monocytes)	0.0363	[0.029-0.044] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
1976	chr2	182323664	182323665	rs12988934	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	2q31.3	ITGA4	rs12988934-T	0.27	2E-14	(monocyte count)	0.109	[0.08-0.14] unit increase	Illumina [2178645] (imputed)	N
1976	chr2	182323765	182323766	rs1375493	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	2q31.3	NR	rs1375493-?	NR	2E-15		0.0192	[0.014-0.024] unit increase	Illumina [NR] (imputed)	N
1976	chr2	182328213	182328214	rs2124440	23314186	Crosslin DR	2013-03-03	Hum Mol Genet	Genetic variation associated with circulating monocyte count in the eMERGE Network.	Monocyte count	9,849 European ancestry individuals, 894 African ancestry individuals, 271 individuals	NA	2q31.3	ITGA4	rs2124440-G	0.45	5E-17		0.22	[NR] unit decrease	Illumina [NR]	N
1976	chr2	182329618	182329619	rs10209150	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	2q31.3	ITGA4	rs10209150-G	0.9795	6E-6	(Ordinal II)	0.591	[0.34-0.85] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1977	chr2	182455993	182455994	rs993648	18521091	Volpi S	2008-06-03	Mol Psychiatry	Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.	Response to iloperidone treatment (QT prolongation)	91 African American Schizophrenia cases, 69 European ancestry Schizophrenia cases, 16 Asian ancestry Schizophrenia cases, 7 Schizophrenia cases	NA	2q31.3	CERKL	rs993648-T	NR	3E-6				Affymetrix [339272]	N
1977	chr2	182511855	182511856	rs1441147	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	2q31.3	NR	rs1441147-?		9E-6	(AA)			Illumina [up to 524000]	N
1977	chr2	182511855	182511856	rs1441147	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second)	1,015 European ancestry individuals, 541 African American individuals	NA	2q31.3	NR	rs1441147-?		3E-6	(AA)			Illumina [up to 524000]	N
1981	chr2	183018745	183018746	rs17366218	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	2q32.1	PDE1A	rs17366218-A	0.95	2E-6		1.5384616	[1.28-1.85]	NR [NR]	N
1982	chr2	183122037	183122038	rs6758334	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	2q32.1	PDE1A	rs6758334-?		9E-6				NR [~ 3000000] (imputed)	N
1986	chr2	183685561	183685562	rs10931041	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	2q32.1	FRZB, DNAJC10	rs10931041-A	NR	9E-6	(Dietary energy)	0.02	[NR] unit decrease	Affymetrix [706791]	N
1992	chr2	184492740	184492741	rs34395537	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q32.1	NR	rs34395537-?	NR	8E-10	(Latino)	1.7295	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1992	chr2	184492740	184492741	rs34395537	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q32.1	NR	rs34395537-?	NR	3E-7	(Latino)	1.3226	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1993	chr2	184556859	184556860	rs77731990	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q32.1	NR	rs77731990-?	NR	3E-8	(Japanese)	1.1807	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1998	chr2	185293915	185293916	rs11691711	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	2q32.1	NR	rs11691711-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1999	chr2	185436261	185436262	rs17430279	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q32.1	ZNF804A	rs17430279-G	0.152	4E-6	(Height z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
2000	chr2	185533579	185533580	rs7597593	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	2q32.1	ZNF804A	rs7597593-T	NR	8E-6	(5 degree of freedom test)	1.055	[1.03-1.08]	NR [1252901] (imputed)	N
2001	chr2	185601419	185601420	rs11693094	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q32.1	NR	rs11693094-C	NR	4E-12		1.0752687	[NR]	Illumina [7158791] (imputed)	N
2001	chr2	185601419	185601420	rs11693094	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	2q32.1	ZNF804A	rs11693094-C	0.542	2E-12		1.0764263	[1.05-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
2001	chr2	185727352	185727353	rs62200787	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q32.1	NR	rs62200787-T	NR	2E-8		1.098901	[NR]	Illumina [7158791] (imputed)	N
2002	chr2	185778427	185778428	rs1344706	18677311	O'Donovan MC	2008-07-30	Nat Genet	Identification of loci associated with schizophrenia by genome-wide association and follow-up.	Schizophrenia	479 European ancestry cases, 2,937 European ancestry controls	4,143 European ancestry cases, 6,515 European ancestry controls, 1,782 East Asian ancestry cases, 1,865 East Asian ancestry controls, 741 cases, 1,517 controls	2q32.1	ZNF804A	rs1344706-T	0.59	2E-7		1.12	[NR]	Affymetrix [362532]	N
2002	chr2	185797227	185797228	rs6755404	23717212	Band G	2013-05-23	PLoS Genet	Imputation-based meta-analysis of severe malaria in three African populations.	Malaria	5,425 African ancestry cases, 6,891 African ancestry controls	NA	2q32.1	NR	rs6755404-A	NR	1E-6		1.26	[1.15-1.38]	Illumina [1300000] (imputed)	N
2002	chr2	185811939	185811940	rs4380187	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	2q32.1	intergenic	rs4380187-A	0.529	6E-8		1.078	[1.05-1.11]	Affymetrix, Illumina [9871789]	N
2002	chr2	185835897	185835898	rs6741522	25420145	Debette S	2014-11-24	Nat Genet	Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.	Cervical artery dissection	1,393 European ancestry cases, 14,416 European ancestry controls	659 European ancestry cases, 2,648 European ancestry controls	2q32.1	ZNF804A	rs6741522-A	0.13	2E-6		1.26	[1.15-1.39]	Illumina [472862]	N
2004	chr2	186024734	186024735	rs11678036	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q32.1	NR	rs11678036-C	0.390262875779163	6E-6	(IGP26)	0.1459	[0.082-0.209] unit increase	Illumina [~ 2500000] (imputed)	N
2004	chr2	186044626	186044627	rs1483242	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q32.1	NR	rs1483242-G	NR	7E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2005	chr2	186184029	186184030	rs1364477	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q32.1	NR	rs1364477-G	0.178595763239875	6E-6	(IGP17)	0.1816	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
2019	chr2	188083122	188083123	rs13424740	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q32.1	CALCRL	rs13424740-T	0.531	8E-6	(EA, men)	0.018	[0.01-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2020	chr2	188115397	188115398	rs1569135	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q32.1	CALCRL	rs1569135-A	0.5297	6E-10	(EA)	0.0213	[0.015-0.028] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
2020	chr2	188115397	188115398	rs1569135	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q32.1	CALCRL	rs1569135-A	0.5285	7E-7	(EA, women)	0.0225	[0.014-0.031] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
2020	chr2	188115397	188115398	rs1569135	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q32.1	CALCRL	rs1569135-A	0.5233	3E-10		0.0208	[0.014-0.027] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
2020	chr2	188115397	188115398	rs1569135	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	2q32.1	CALCRL	rs1569135-A	0.523	2E-6	(women)	0.0213	[0.013-0.03] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
2020	chr2	188180408	188180409	rs62174474	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	2q32.1	intergenic	rs62174474-C	0.9439	8E-6		0.7084	[0.4-1.02] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2020	chr2	188196468	188196469	rs840616	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	2q32.1	intergenic	rs840616-?	NR	7E-7				Illumina [574919]	N
2021	chr2	188333063	188333064	rs4140885	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	2q32.1	TFPI	rs4140885-A	0.317	5E-8		0.217	[0.12-0.31] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
2021	chr2	188343496	188343497	rs7586970	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	2q32.1	intergenic	rs7586970-?	NR	9E-6				Illumina [574919]	N
2032	chr2	189718961	189718962	rs2675399	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q32.2	DIRC1	rs2675399-G	0.196	6E-6	(Adiponectin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
2032	chr2	189750862	189750863	rs997277	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	2q32.2	DIRC1, COL3A1	rs997277-?	0.345	5E-8		1.63	[NR]	Illumina [3922209] (imputed)	N
2033	chr2	189897393	189897394	rs11186	26227905	Hu Y	2015-07-31	Mol Neurobiol	A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.	Parkinson's disease	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2q32.2	COL5A2	rs11186-?	NR	1E-6		2.79	[1.94-4.03]	Illumina [862198]	N
2037	chr2	190378749	190378750	rs744653	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	2q32.2	WDR75, SLC40A1	rs744653-T	0.854	1E-11		0.068	[0.048-0.088] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
2037	chr2	190378749	190378750	rs744653	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (ferritin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	2q32.2	WDR75, SLC40A1	rs744653-T	0.854	8E-19		0.089	[0.069-0.109] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
2039	chr2	190607152	190607153	rs12053254	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q32.2	ANKAR, PMS1	rs12053254-G	0.125	6E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
2039	chr2	190643648	190643649	rs7606224	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	2q32.2	ORMDL1	rs7606224-?	0.011	2E-6		0.104	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
2039	chr2	190649315	190649316	rs5742933	25162662	Liao M	2014-08-27	PLoS One	Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population.	Serum ferritin levels	1,999 Han Chinese ancestry individuals	1,496 Chinese ancestry individuals	2q32.2	OSGEPL1, ORMDL1, ANKAR, PMS1	rs5742933-?	NR	2E-10		0.11	[0.07-0.14] unit decrease	Illumina [1940243] (imputed)	N
2039	chr2	190678544	190678545	rs5743030	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2q32.2	PMS1	rs5743030-A	0.05	5E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
2040	chr2	190771944	190771945	rs62184315	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	2q32.2	NR	rs62184315-T	0.84	4E-6		1.47	[1.31-1.63]	Illumina [4058415] (imputed)	N
2042	chr2	190985679	190985680	rs13034723	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	2q32.2	KLF9	rs13034723-A	NR	2E-8	(rs11142387-C)	0.066	[0.042-0.090] unit increase	Illumina [2178018] (imputed)	N
2046	chr2	191538561	191538562	rs10931468	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	2q32.2	STAT4	rs10931468-A	0.12	2E-19		1.5	[1.37-1.64]	Illumina [507467]	N
2049	chr2	191902757	191902758	rs3821236	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	2q32.2	STAT4	rs3821236-?	NR	9E-8	(IcSSc)	1.31	[1.19-1.48]	Illumina [NR] (imputed)	N
2049	chr2	191902757	191902758	rs3821236	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	2q32.2	STAT4	rs3821236-A	0.20	3E-9		1.3	[1.19-1.41]	Illumina [279621]	N
2049	chr2	191902757	191902758	rs3821236	19165918	Graham RR	2008-08-01	Nat Genet	Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.	Systemic lupus erythematosus	431 European ancestry cases, 2,155 European ancestry controls	447 European ancestry trios, 293 trios	2q32.2	STAT4	rs3821236-?	0.19	8E-11		1.49	[NR]	Affymetrix [313238]	N
2049	chr2	191931463	191931464	rs1517352	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q32.2	NR	rs1517352-C	0.6	2E-9	(EA)	1.0808891		Affymetrix, Illumina [~ 9000000] (imputed)	N
2049	chr2	191931463	191931464	rs1517352	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q32.2	NR	rs1517352-C	0.6	4E-14	(EA)	1.0809946		Affymetrix, Illumina [~ 9000000] (imputed)	N
2049	chr2	191931463	191931464	rs1517352	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q32.2	NR	rs1517352-A	0.6	1E-10	(EA)	1.0832976		Affymetrix, Illumina [~ 9000000] (imputed)	N
2049	chr2	191931463	191931464	rs1517352	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2q32.2	STAT1, STAT4	rs1517352-C	0.6	3E-11		1.077	[1.046-1.109]	Affymetrix, Illumina [1230000] (imputed)	N
2049	chr2	191935803	191935804	rs10168266	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	2q32.2	STAT4	rs10168266-T	0.3357	2E-17		1.44	[1.32-1.57]	Affymetrix [556134]	N
2049	chr2	191940450	191940451	rs7601754	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	2q32.2	STAT4	rs7601754-?	NR	3E-11		1.32	[NR]	Illumina [NR]	N
2049	chr2	191943741	191943742	rs11889341	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q32.2	STAT4	rs11889341-T	0.3	2E-8	(East Asian)	1.16	[1.10-1.22]	Affymetrix, Illumina [up to 9739303] (imputed)	N
2049	chr2	191943741	191943742	rs11889341	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q32.2	STAT4	rs11889341-T	0.25	4E-19		1.13	[1.10-1.17]	Affymetrix, Illumina [up to 9739303] (imputed)	N
2049	chr2	191943741	191943742	rs11889341	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q32.2	STAT4	rs11889341-T	0.23	1E-12	(EA)	1.12	[1.09-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
2049	chr2	191964632	191964633	rs7574865	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	2q32.2	STAT4	rs7574865-T	0.33	5E-9		1.5083	[1.41-1.62]	Illumina [NR]	N
2049	chr2	191964632	191964633	rs7574865	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	2q32.2	STAT4	rs7574865-T	0.34	1E-21		1.63		Illumina [2100739] (imputed)	N
2049	chr2	191964632	191964633	rs7574865	23242368	Jiang DK	2012-12-16	Nat Genet	Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.	Hepatocellular carcinoma (hepatitis B virus related)	1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls	4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls	2q32.2	STAT4	rs7574865-G	0.67	2E-10		1.21	[1.14-1.28]	Illumina [1672517] (imputed)	N
2049	chr2	191964632	191964633	rs7574865	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	2q32.2	STAT4	rs7574865-T	NR	4E-14		1.477	[1.335-1.634]	Illumina [737984]	N
2049	chr2	191964632	191964633	rs7574865	23000144	Nakamura M	2012-09-18	Am J Hum Genet	Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.	Primary biliary cirrhosis	487 Japanese ancestry cases, 476 Japanese ancestry controls	787 Japanese ancestry cases, 615 Japanese ancestry controls	2q32.2	STAT4	rs7574865-T	NR	1E-6		1.35	[1.19-1.52]	Affymetrix [421245]	N
2049	chr2	191964632	191964633	rs7574865	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	2q32.2	STAT4	rs7574865-T	0.22	2E-13		1.38	[1.27-1.50]	Illumina [489814]	N
2049	chr2	191964632	191964633	rs7574865	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	2q32.2	STAT4	rs7574865-T	0.28	8E-6	(case-only)	1.41	[1.21-1.63]	Illumina [421318] (imputed)	N
2049	chr2	191964632	191964633	rs7574865	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	2q32.2	STAT4	rs7574865-T	0.23	2E-20	(anti-dsDNA +)	1.77	[1.57-1.99]	Illumina [421318] (imputed)	N
2049	chr2	191964632	191964633	rs7574865	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	2q32.2	STAT4	rs7574865-T	NR	4E-10				Illumina [472854]	N
2049	chr2	191964632	191964633	rs7574865	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	2q32.2	STAT4	rs7574865-T	0.22	3E-7		1.16	[1.10-1.23]	Affymetrix, Illumina [~ 2716259] (imputed)	N
2049	chr2	191964632	191964633	rs7574865	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	2q32.2	STAT4	rs7574865-T	0.33	2E-6		1.17	[1.10-1.25]	Illumina [393217]	N
2049	chr2	191964632	191964633	rs7574865	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	2q32.2	STAT4	rs7574865-A	0.33	5E-42		1.51	[1.43-1.61]	Illumina [493955]	N
2049	chr2	191964632	191964633	rs7574865	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	2q32.2	STAT4	rs7574865-T	0.23	9E-14				Illumina [502033]	N
2049	chr2	191970119	191970120	rs7582694	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	2q32.3	STAT4, STAT1	rs7582694-C	0.216	4E-7		1.811	[NR]	Affymetrix [up to 700598]	N
2049	chr2	192010487	192010488	rs7574070	23291587	Kirino Y	2013-01-06	Nat Genet	Genome-wide association analysis identifies new susceptibility loci for Beh&#x000e7;et's disease and epistasis between HLA-B*51 and ERAP1.	Behcet's disease	435 Turkish uveitis cases, 780 Turkish without uveitis cases, 1,278 Turkish controls	355 Turkish uveitis cases, 483 Turkish without uveitis cases, 601 Turkish controls, up to 612 Japanese ancestry cases, up to 740 Japanese ancestry controls	2q32.3	STAT4	rs7574070-A	0.421	1E-9		1.27	[1.17-1.37]	Illumina [779465] (imputed)	N
2049	chr2	192010487	192010488	rs7574070	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	2q32.3	STAT4	rs897200-?,rs7572482-?,rs7574070-?	NR	4E-8	rs897200-A, rs7572482-T, rs7574070-T	1.44	[1.3-1.6]	Affymetrix [661736]	N
2049	chr2	192015071	192015072	rs7572482	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	2q32.3	STAT4	rs897200-?,rs7572482-?,rs7574070-?	NR	4E-8	rs897200-A, rs7572482-T, rs7574070-T	1.44	[1.3-1.6]	Affymetrix [661736]	N
2049	chr2	192017770	192017771	rs897200	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	2q32.3	STAT4	rs897200-A	0.529	6E-9		1.45	[1.30-1.60]	Affymetrix [661736]	N
2049	chr2	192017770	192017771	rs897200	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	2q32.3	STAT4	rs897200-?,rs7572482-?,rs7574070-?	NR	4E-8	rs897200-A, rs7572482-T, rs7574070-T	1.44	[1.3-1.6]	Affymetrix [661736]	N
2050	chr2	192117237	192117238	rs13030978	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	2q32.3	MYO1B, STAT4	rs13030978-T	0.32	1E-11		3.7	[2.80-4.6] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2050	chr2	192118046	192118047	rs1823913	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q32.3	MYO1B	rs1823913-A	0.38	9E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
2053	chr2	192465597	192465598	rs6706693	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil)	177 Japanese ancestry cases, 952 Japanese ancestry controls	NA	2q32.3	OBFC2A	rs6706693-A	0.219	9E-6	(Recessive model)	1.743	[1.362-2.232]	Illumina [733202]	N
2054	chr2	192587203	192587204	rs11903757	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	2q32.3	NABP1	rs11903757-C	0.16	4E-8		1.16	[1.10-1.22]	Affymetrix, Illumina [2708280] (imputed)	N
2056	chr2	192914361	192914362	rs10497721	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Diabetes (incident)	91 cases, 1,083 controls	NA	2q32.3	TMEFF2	rs10497721-?	NR	7E-7				Affymetrix [70897]	N
2057	chr2	192955504	192955505	rs13007495	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	2q32.3	TMEFF2	rs13007495-?	0.14	4E-6	(Recessive)	1.47	[1.25-1.73]	Affymetrix [319222]	N
2057	chr2	193052352	193052353	rs1113932	25042611	Griffin PJ	2014-07-19	Am J Hematol	The Genetics of Hemoglobin A2 Regulation in Sickle Cell Anemia.	Hemoglobin A2 levels in sickle cell anemia	618 African American cases	173 African American cases, 398 Chinese ancestry individuals	2q32.3	NR	rs1113932-G	0.06	9E-6	(AA)	0.2881	[NR] unit increase	Illumina [NR]	N
2060	chr2	193333902	193333903	rs1385351	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	2q32.3	intergenic	rs1385351-?	NR	4E-6	(progression)			Illumina [NR]	N
2063	chr2	193726046	193726047	rs13424309	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q32.3	NR	rs13424309-T	NR	6E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
2063	chr2	193742172	193742173	rs10174573	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	2q32.3	intergenic	rs10174573-T	0.57	2E-6	(partial response - 2 weeks)	1.564	[1.39-1.74]	Affymetrix, Illumina [1200000] (imputed)	N
2063	chr2	193848339	193848340	rs59979824	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q32.3	NR	rs59979824-C	NR	2E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2063	chr2	193848339	193848340	rs59979824	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	2q32.3	PCGEM1	rs59979824-C	0.663	8E-9		1.0672358	[1.04-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
2064	chr2	193984620	193984621	rs17662626	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	2q32.3	PCGEM1	rs17662626-?	0.915	5E-8	(Modelling analysis)			NR [1252901] (imputed)	N
2064	chr2	193984620	193984621	rs17662626	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	2q32.3	PCGEM1	rs17662626-A	0.91	5E-8		1.2	[1.13-1.26]	Affymetrix, Illumina [1252901] (imputed)	N
2067	chr2	194367539	194367540	rs6716963	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q32.3	NR	rs6716963-A	NR	6E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
2069	chr2	194620193	194620194	rs78901727	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q32.3	NR	rs78901727-A	NR	9E-6		1.11	[NR]	Illumina [7158791] (imputed)	N
2070	chr2	194692310	194692311	rs191228972	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q32.3	NR	rs191228972-?	NR	1E-6		0.6347	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2071	chr2	194872182	194872183	rs2176528	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	2q32.3	intergenic	rs2176528-C	NR	4E-6		1.12	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
2073	chr2	195079898	195079899	rs72925918	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q32.3	NR	rs72925918-G	NR	7E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
2073	chr2	195151204	195151205	rs150734725	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q32.3	NR	rs150734725-?	NR	6E-6	(EA)	1.4012	[0.8-2] unit decrease	Illumina [up to 11892802] (imputed)	N
2073	chr2	195151204	195151205	rs150734725	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q32.3	NR	rs150734725-?	NR	3E-7	(EA)	1.3024	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2074	chr2	195199594	195199595	rs62196198	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	2q32.3	NR	rs62196198-?		3E-8	(PCB126)	1.23	[0.8-1.66] unit decrease	Illumina [8736858] (imputed)	N
2076	chr2	195547392	195547393	rs801350	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	2q32.3	intergenic	rs801350-?		2E-8	(Hispanic)		[NR]	Illumina [936149]	N
2077	chr2	195559996	195559997	rs801378	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	2q32.3	intergenic	rs801378-?		2E-8	(Hispanic)		[NR]	Illumina [936149]	N
2079	chr2	195871818	195871819	rs10172965	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	2q32.3	SLC39A10	rs10172965-T	0.139	6E-6	(Harm avoidance)	0.3	unit decrease	Affymetrix, Illumina [1252222] (imputed)	N
2080	chr2	195954733	195954734	rs777717	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Food allergy	671 European ancestry child cases, 144 European ancestry non-allergic non-sensitized child controls, 234 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	2q32.3	LOC645314, SLC39A10	rs777717-?	NR	5E-6				Illumina [6459842] (imputed)	N
2083	chr2	196365889	196365890	rs4591358	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	2q32.3	LOC391470	rs4591358-C	0.215	7E-6	(Allelic model)	1.578	[1.297-1.92]	Illumina [733202]	N
2090	chr2	197327734	197327735	rs9677260	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q32.3	NR	rs9677260-T	NR	9E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
2095	chr2	197920168	197920169	rs4850410	25338677	Kariuki SN	2014-10-23	Genes Immun	Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.	Interferon alpha levels in systemic lupus erythematosus	88 European ancestry high interferon alpha cases, 322 European ancestry low interferon alpha cases	715 European ancestry cases, 450 African American cases	2q33.1	ANKRD44, PGAP1, LOC729342	rs4850410	NR	1E-6		1.56	[1.19-2.08]	Illumina [291943]	N
2096	chr2	198144001	198144002	rs1429411	25338677	Kariuki SN	2014-10-23	Genes Immun	Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.	Interferon alpha levels in systemic lupus erythematosus	88 European ancestry high interferon alpha cases, 322 European ancestry low interferon alpha cases	715 European ancestry cases, 450 African American cases	2q33.1	ANKRD44, LOC729342	rs1429411-C	NR	5E-6	(EA)	1.55	[1.20-2.00]	Illumina [291943]	N
2096	chr2	198164529	198164530	rs1896857	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	2q33.1	NR	rs1896857-A	0.74	8E-6		1.3	[1.18-1.42]	Illumina [4058415] (imputed)	N
2097	chr2	198304576	198304577	rs6434928	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.1	NR	rs6434928-G	NR	5E-11		1.0752687	[NR]	Illumina [7158791] (imputed)	N
2097	chr2	198304576	198304577	rs6434928	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	2q33.1	ANKRD44, BOLL, COQ10B, HSPD1, HSPE1, MARS2, PLCL1, RFTN2, SF3B1	rs6434928-G	0.357	2E-11		1.0764263	[1.05-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
2100	chr2	198631713	198631714	rs700651	18997786	Bilguvar K	2008-11-09	Nat Genet	Susceptibility loci for intracranial aneurysm in European and Japanese populations.	Intracranial aneurysm	1,580 European ancestry cases, 6,276 European ancestry controls	495 Japanese ancestry cases, 676 Japanese ancestry controls	2q33.1	BOLL, PLCL1	rs700651-G	0.35	4E-8		1.24	[1.15-1.34]	Illumina [289271]	N
2102	chr2	198871416	198871417	rs1440088	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q33.1	NR	rs1440088-A	0.81	6E-7	(EA)	1.0840102		Affymetrix, Illumina [~ 9000000] (imputed)	N
2102	chr2	198875463	198875464	rs1595825	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q33.1	NR	rs1595825-?	NR	4E-7	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
2102	chr2	198881667	198881668	rs1016883	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	2q33.1	RFTN2, PLCL1	rs1016883-G	0.817	3E-8		1.1	[1.051-1.15]	Affymetrix, Illumina [1230000] (imputed)	N
2102	chr2	198896894	198896895	rs6738825	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	2q33.1	PLCL1	rs6738825-A	0.473	4E-9		1.06	[1.02-1.11]	Affymetrix, Illumina [953241] (imputed)	N
2102	chr2	198911165	198911166	rs67031482	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		2q33.1	PLCL1	rs67031482-?	0.48	4E-6				Illumina [4058415] (imputed)	N
2102	chr2	198914071	198914072	rs10497813	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	2q33.1	PLCL1	rs10497813-G	0.4825	6E-10		0.0734	[0.050-0.097] unit increase	Illumina [2400000] (imputed)	N
2102	chr2	198921200	198921201	rs1837495	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.1	NR	rs1837495-G	NR	7E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2102	chr2	198929805	198929806	rs7572733	23983088	Miller FW	2013-08-27	Arthritis Rheum	Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders.	Dermatomyositis	1,178 European ancestry cases, 4,724 European ancestry controls	NA	2q33.1	PLCL1	rs7572733-?	NR	6E-6		1.25	[1.14-1.39]	Illumina [up to 242876]	N
2102	chr2	198962242	198962243	rs7595412	18776929	Liu YZ	2008-09-08	PLoS One	Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study.	Hip bone size	501 European ancestry female individuals, 499 European ancestry male individuals	1,216 European ancestry female individuals	2q33.1	PLCL1	rs7595412-A	0.89	2E-6		5.0	[NR] cm2 increase in hip bone size on women	Affymetrix [306823]	N
2103	chr2	198987934	198987935	rs988583	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	2q33.1	PLCL1	rs988583-?	NR	6E-6				Illumina [874956]	N
2104	chr2	199169095	199169096	rs13398206	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	2q33.1	PLCL1	rs13398206-?	NR	4E-6	(rs10896449)	1.24	[1.13-1.36]	Affymetrix, Illumina [1117531] (imputed)	N
2106	chr2	199385720	199385721	rs2054125	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 101,069 European ancestry individuals	25,490 European ancestry individuals	2q33.1	PLCL1	rs2054125-T	0.064	2E-7	(College)	1.376	[NR]	Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)	N
2106	chr2	199451091	199451092	rs7594192	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2q33.1	intergenic	rs7594192-A	0.25	1E-7		0.026	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2107	chr2	199523121	199523122	rs17229285	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q33.1	NR	rs17229285-G	0.4966	3E-14	(EA)	1.1000017	[1.08-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2107	chr2	199523121	199523122	rs17229285	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q33.1	NR	rs17229285-G	0.4966	8E-7	(EA)	1.0505787	[1.03-1.07]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2107	chr2	199523121	199523122	rs17229285	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	2q33.1	intergenic	rs17229285-C	0.496	2E-13		1.117	[1.079-1.157]	Affymetrix, Illumina [1230000] (imputed)	N
2107	chr2	199585555	199585556	rs16830366	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist circumference	Up to 23,564 African American individuals	Up to 10,027 African American individuals	2q33.1	SATB2	rs16830366-T	0.07	6E-6	(women)	0.09	[0.031-0.109] unit increase	Affymetrix, Illumina [3200000] (imputed)	N
2107	chr2	199601924	199601925	rs11893063	20308991	Kim S	2010-03-23	Mol Psychiatry	Integrative genome-wide association analysis of cytoarchitectural abnormalities in the prefrontal cortex of psychiatric disorders.	Brain cytoarchitecture	14 European ancestry bipolar cases, 15 European ancestry depression cases, 13 European ancestry schizophrenia cases, 14 European ancestry controls	NA	2q33.1	SATB2, PLCL1	rs11893063-?	0.46	2E-6				Affymetrix [309531]	N
2108	chr2	199632564	199632565	rs12617311	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	2q33.1	PLCL1	rs12617311-A	0.32	6E-13		3.0	[2.22-3.78] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2108	chr2	199638689	199638690	rs1400974	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2q33.1	SATB2	rs1400974-A	0.64	8E-20		0.05	[0.04-0.06] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
2108	chr2	199644037	199644038	rs17233066	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2q33.1	SATB2	rs17233066-C	0.93	6E-11		0.09	[0.063-0.117] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
2108	chr2	199679109	199679110	rs10189905	22144915	Fan Q	2011-12-01	PLoS Genet	Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.	Corneal astigmatism	1,231 Chinese ancestry cases, 785 Chinese ancestry controls, 1,018 Malay ancestry cases, 1,220 Malay ancestry controls	825 Indian ancestry cases, 1,314 Indian ancestry controls, 760 Chinese ancestry child cases, 169 Chinese ancestry child controls, 397 Chinese ancestry trios	2q33.1	intergenic	rs10189905-?	NR	6E-7		1.32	[1.18-1.46]	Illumina [460528]	N
2108	chr2	199745017	199745018	rs1405108	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q33.1	NR	rs1405108-C	0.3358	6E-10	(EA)	1.0854406	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2110	chr2	199990106	199990107	rs1451488	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.1	NR	rs1451488-G	NR	6E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2110	chr2	200010474	200010475	rs16831047	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.1	NR	rs16831047-A	NR	4E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
2110	chr2	200014482	200014483	rs12471454	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Insomnia	2,267 European ancestry individuals	NA	2q33.1	SATB2	rs12471454-T	0.41	6E-6		0.1	[0.061-0.139] unit decrease	Illumina [2380486] (imputed)	N
2112	chr2	200164251	200164252	rs6704641	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.1	NR	rs6704641-A	NR	2E-8		1.08	[NR]	Illumina [7158791] (imputed)	N
2112	chr2	200164251	200164252	rs6704641	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	2q33.1	SATB2	rs6704641-A	0.805	8E-9		1.081	[1.053-1.110]	Affymetrix, Illumina [9005918] (imputed)	N
2112	chr2	200275208	200275209	rs17266097	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	2q33.1	SATB2	rs17266097-T	0.42	3E-18		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
2113	chr2	200290358	200290359	rs1992950	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	2q33.1	SATB2	rs1992950-A	NR	5E-6		1.25		Illumina [266047]	N
2115	chr2	200576766	200576767	rs76432012	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.1	NR	rs76432012-T	NR	2E-7		1.16	[NR]	Illumina [7158791] (imputed)	N
2115	chr2	200616256	200616257	rs75260059	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	2q33.1	TYW5, SATB2	rs75260059-?	NR	9E-7		0.34	[0.20-0.48] unit increase	Illumina [1075436] (imputed)	N
2115	chr2	200638508	200638509	rs12615435	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)	184 Japanese ancestry cases, 459 Japanese ancestry controls	NA	2q33.1	LOC348751	rs12615435-T	0.773	4E-6	(Allelic model)	2.214	[1.555-3.154]	Illumina [733202]	N
2116	chr2	200671902	200671903	rs76506302	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q33.1	intergenic	rs76506302-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
2116	chr2	200676925	200676926	rs7605378	21573128	Kou I	2011-05-15	PLoS One	Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese.	Osteoporosis	190 Japanese ancestry cases, 1,557 Japanese ancestry controls	2,089 Japanese ancestry cases, 3,114 Japanese ancestry controls	2q33.1	LOC348751, FONG	rs7605378-?	0.56	2E-8		1.25	[1.16-1.35]	Perlegen [224507]	N
2116	chr2	200715387	200715388	rs2949006	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	2q33.1	C2orf47, SPATS2L, FONG, C2orf69, TYW5	rs2949006-T	0.192	1E-8		1.102	[1.07-1.14]	Affymetrix, Illumina [9871789]	N
2117	chr2	200825239	200825240	rs281768	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.1	NR	rs281768-A	NR	2E-14		1.11	[NR]	Illumina [7158791] (imputed)	N
2118	chr2	201021953	201021954	rs1569175	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	2q33.1	C2orf47	rs1569175-T	NR	9E-7		2.73	[1.52-4.93]	Affymetrix [476796]	N
2119	chr2	201150039	201150040	rs295137	22792082	Himes BE	2012-07-05	PLoS Genet	Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene.	Asthma (bronchodilator response)	1,644 European ancestry cases	1,051 European ancestry cases	2q33.1	SPATS2L	rs295137-T	0.41	1E-6				Affymetrix, Illumina [4571615] (imputed)	N
2119	chr2	201158121	201158122	rs12612420	19727025	De Moor MH	2009-09-02	Med Sci Sports Exerc	Genome-wide association study of exercise behavior in Dutch and American adults.	Exercise (leisure time)	2,622 European ancestry individuals	NA	2q33.1	DNAPTP6	rs12612420-A	NR	8E-6		1.43	[1.22-1.67]	Affymetrix, Perlegen [~ 1600000] (imputed)	N
2119	chr2	201160698	201160699	rs295140	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	2q33.1	SPATS2L	rs295140-T	0.423	4E-13		0.61	[0.45-0.77] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2119	chr2	201160770	201160771	rs1367858	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.1	NR	rs1367858-T	NR	3E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
2120	chr2	201247490	201247491	rs842828	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	2q33.1	SPATS2L	rs842828-C	0.91	2E-6	(men)	0.166	[0.097-0.235] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
2120	chr2	201308116	201308117	rs1561296	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.1	NR	rs1561296-T	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
2122	chr2	201568432	201568433	rs2253612	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	2q33.1	AOX2P	rs2253612-C	0.09	8E-7		1.4285715	[1.29-1.57]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
2122	chr2	201571142	201571143	rs2540051	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	2q33.1	AOX1	rs2540051-?,rs7563911-?,rs7589014-?,rs2348114-?	NR	6E-8	(Amyotrophic Lateral Sclerosis)			Illumina [795637]	N
2122	chr2	201576283	201576284	rs7563911	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	2q33.1	AOX1	rs2540051-?,rs7563911-?,rs7589014-?,rs2348114-?	NR	6E-8	(Amyotrophic Lateral Sclerosis)			Illumina [795637]	N
2122	chr2	201580953	201580954	rs7589014	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	2q33.1	AOX1	rs2540051-?,rs7563911-?,rs7589014-?,rs2348114-?	NR	6E-8	(Amyotrophic Lateral Sclerosis)			Illumina [795637]	N
2122	chr2	201582192	201582193	rs2348114	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	2q33.1	AOX1	rs2540051-?,rs7563911-?,rs7589014-?,rs2348114-?	NR	6E-8	(Amyotrophic Lateral Sclerosis)			Illumina [795637]	N
2123	chr2	201648638	201648639	rs13430864	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	2q33.1	AOX2P	rs13430864-G	0.04	5E-7	(EA + AA - Dizziness)			Affymetrix [421789]	N
2124	chr2	201738723	201738724	rs111315781	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	2q33.1	PPIL3, CLK1, NIF3L1, ORC2	rs111315781-?	NR	6E-7		0.61	unit decrease	NR [at least 1978803] (imputed)	N
2125	chr2	201889750	201889751	rs7591472	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	2q33.1	FAM126B, ORC2	rs7591472-?	NR	3E-6		0.59	unit decrease	NR [at least 1978803] (imputed)	N
2126	chr2	202004675	202004676	rs6759004	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	2q33.1	CFLAR, FAM126B	rs6759004-?	NR	3E-7		0.63	unit decrease	NR [at least 1978803] (imputed)	N
2126	chr2	202060819	202060820	rs3731714	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	2q33.1	NR	rs3731714-T	0.2989	2E-6	(Cis/trans-18:2, EA)	0.0022	[0.0012-0.0032] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2126	chr2	202111379	202111380	rs3769825	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	2q33.1	CASP8, CASP10	rs3769825-T	0.45	3E-9		1.19	[1.12-1.25]	Illumina [549934]	N
2127	chr2	202154396	202154397	rs6715284	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q33.1	CASP8, CFLAR	rs6715284-G	0.1	3E-9	(EA)	1.15	[1.10-1.20]	Affymetrix, Illumina [up to 9739303] (imputed)	N
2127	chr2	202154396	202154397	rs6715284	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q33.1	CASP8, CFLAR	rs6715284-G	0.1	2E-9		1.15	[1.10-1.20]	Affymetrix, Illumina [up to 9739303] (imputed)	N
2127	chr2	202162810	202162811	rs13016963	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	2q33.1	CASP8, ALS2CR12	rs13016963-A	0.283	4E-13		1.27	[1.19-1.33]	Affymetrix, Illumina [7556215] (imputed)	N
2127	chr2	202162810	202162811	rs13016963	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	2q33.1	CASP8	rs13016963-A	0.37	9E-10		1.14	[1.09-1.19]	Illumina [594997]	N
2127	chr2	202215491	202215492	rs13014235	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	2q33.1	ALS2CR12, CASP8, CASP10	rs13014235-C	0.456	2E-9		1.15	[1.10-1.20]	Illumina [24988228] (imputed)	N
2132	chr2	202807195	202807196	rs17385675	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	2q33.1	intergenic	rs17385675-?	0.069	3E-6	(clozapine-triglycerides)			Affymetrix [492900]	N
2132	chr2	202859616	202859617	rs6754521	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	2q33.1	intergenic	rs6754521-?	NR	5E-6	(SF10)			Affymetrix [5476100] (imputed)	N
2133	chr2	202949850	202949851	rs1521882	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	2q33.1	FLJ39061, FZD7	rs1521882-A	0.82	8E-6				Perlegen [378332]	N
2136	chr2	203337000	203337001	rs12468226	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	2q33.1	BMPR2	rs12468226-A	0.88	3E-6	(network)	0.039	[0.023-0.055] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
2137	chr2	203532303	203532304	rs11694172	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	2q33.2	FAM117B	rs11694172-G	0.25	2E-9		0.028	[NR] unit increase	NR [NR] (imputed)	N
2138	chr2	203676104	203676105	rs115400054	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	2q33.2	FAM117B	rs115400054-C	0.88	5E-9		0.054	[0.036-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2139	chr2	203745884	203745885	rs6725887	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	2q33.2	WDR12	rs6725887-C	NR	2E-8		1.14	[1.10-1.19]	Illumina [575000] (imputed)	N
2139	chr2	203745884	203745885	rs6725887	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	2q33.2	WDR12	rs6725887-C	0.15	1E-9		1.14	[1.09-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2139	chr2	203745884	203745885	rs6725887	19198609	Kathiresan S	2009-02-08	Nat Genet	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Myocardial infarction (early onset)	2,967 European ancestry cases, 3,075 European ancestry controls	9,746 European ancestry cases, 9,746 European ancestry controls	2q33.2	WDR12	rs6725887-C	0.14	1E-8		1.17	[1.11-1.23]	Affymetrix [~ 2500000] (imputed)	N
2139	chr2	203753071	203753072	rs7582720	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	2q33.2	WDR12	rs7582720-?		3E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
2139	chr2	203753071	203753072	rs7582720	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	2q33.2	WDR12	rs7582720-?		4E-9				Affymetrix, Illumina [up to 2500000] (imputed)	N
2139	chr2	203808531	203808532	rs140244541	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	2q33.2	FAM117B	rs140244541-G	0.86	6E-9		0.05	[0.032-0.068] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2140	chr2	203916486	203916487	rs72934505	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	2q33.2	NBEAL1	rs72934505-T	0.89	6E-8				Affymetrix, Illumina [14227402] (imputed)	N
2140	chr2	203916486	203916487	rs72934505	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	2q33.2	NBEAL1	rs72934505-T	0.89	5E-8	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
2142	chr2	204089729	204089730	rs16839626	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q33.2	NBEAL1	rs16839626-A	0.0060	4E-7	(Fat mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
2142	chr2	204089729	204089730	rs16839626	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q33.2	NBEAL1	rs16839626-A	0.0060	3E-6	(Weight change )	0.04	[NR] kg/y increase	Illumina [899892]	N
2142	chr2	204089729	204089730	rs16839626	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q33.2	NBEAL1	rs16839626-A	0.0060	2E-7	(Fat mass deposition )	0.05	[NR] kcal/d increase	Illumina [899892]	N
2142	chr2	204089729	204089730	rs16839626	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q33.2	NBEAL1	rs16839626-A	0.0060	2E-7	(Energy storage )	0.05	[NR] kcal/d increase	Illumina [899892]	N
2142	chr2	204165170	204165171	rs11888559	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Height	1,792 Filipino ancestry females	NA	2q33.2	CYP20A1	rs11888559-T	0.15	2E-6		1.05	[0.62-1.48] cm increase	Affymetrix [2073674] (imputed)	N
2143	chr2	204249398	204249399	rs11675251	21862451	Benyamin B	2011-08-23	Hum Mol Genet	GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.	Butyrylcholinesterase levels	6,879 European ancestry adult individuals	1,260 European ancestry adult individuals, 652 European ancestry adolescent individuals	2q33.2	ABI2	rs11675251-A	0.45	4E-18		0.15	[0.12-0.18] SD decrease	Illumina [2383238] (imputed)	N
2143	chr2	204272089	204272090	rs1376877	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Subclinical atherosclerosis traits (other)	Up to 984 individuals	NA	2q33.2	ABI2	rs1376877-?	NR	4E-7	(ICA IMT)			Affymetrix [70897]	N
2145	chr2	204589943	204589944	rs4675361	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	2q33.2	CD28	rs4675361-T	0.75	5E-6	(Right HG thickness)	0.0323	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
2145	chr2	204592020	204592021	rs3116494	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q33.2	ICOS, CD28, CTLA4	rs3116494-G	0.2539	1E-7	(EA)	1.080307	[1.05-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2145	chr2	204592020	204592021	rs3116494	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q33.2	ICOS, CD28, CTLA4	rs3116494-G	0.2539	5E-7	(EA)	1.0607666	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2146	chr2	204610395	204610396	rs1980422	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q33.2	CD28	rs1980422-C	0.24	2E-13	(EA)	1.13	[1.09-1.17]	Affymetrix, Illumina [up to 9739303] (imputed)	N
2146	chr2	204610395	204610396	rs1980422	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q33.2	CD28	rs1980422-C	0.19	3E-14		1.12	[1.09-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
2146	chr2	204693875	204693876	rs231735	19503088	Gregersen PK	2009-06-07	Nat Genet	REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.	Rheumatoid arthritis	2,418 European ancestry cases, 4,504 European ancestry controls	2,604 cases, 2,882 controls	2q33.2	CTLA4	rs231735-T	0.51	6E-9		1.17	[1.11-1.23]	Illumina [278502]	N
2146	chr2	204721751	204721752	rs1024161	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	2q33.2	CD28, CTLA4	rs1024161-T	0.69	2E-17		1.3	[1.23-1.38]	Illumina [486049]	N
2146	chr2	204721751	204721752	rs1024161	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	2q33.2	ICOS, CTLA4	rs1024161-A	0.40	4E-13		1.44	[1.30-1.59]	Illumina [463301]	N
2146	chr2	204729152	204729153	rs231770	25643325	Renton AE	2015-04-01	JAMA Neurol	A Genome-wide Association Study of Myasthenia Gravis.	Myasthenia gravis	972 European ancestry cases, 1,977 European ancestry controls	423 European ancestry cases, 467 European ancestry controls	2q33.2	CTLA4	rs231770-T	0.38	9E-11		1.39	[NR]	Illumina [8114394] (imputed)	N
2147	chr2	204734486	204734487	rs231779	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	2q33.2	CTLA4	rs231779-T	0.365	7E-6		1.126	[1.07-1.19]	Illumina [870065]	N
2147	chr2	204738918	204738919	rs3087243	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q33.2	CTLA4	rs3087243-G	0.6	3E-25		1.14	[1.11-1.17]	Affymetrix, Illumina [up to 9739303] (imputed)	N
2147	chr2	204738918	204738919	rs3087243	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	2q33.2	CTLA4	rs3087243-G	0.55	4E-22	(EA)	1.15	[1.12-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
2147	chr2	204738918	204738919	rs3087243	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	2q33.2	CTLA4	rs3087243-A	NR	2E-17	(T1D)	1.2	[NR]	Affymetrix, Illumina [NR]	N
2147	chr2	204738918	204738919	rs3087243	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	2q33.2	CTLA4	rs3087243-G	0.56	1E-8		1.15	[1.10-1.20]	Affymetrix, Illumina [~ 2716259] (imputed)	N
2147	chr2	204738918	204738919	rs3087243	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	2q33.2	CTLA4	rs3087243-?	NR	1E-15				Affymetrix, Illumina [841622] (imputed)	N
2147	chr2	204738918	204738919	rs3087243	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	2q33.2	CTLA4	rs3087243-A	NR	8E-11				Affymetrix [up to 335565]	N
2147	chr2	204802577	204802578	rs4675374	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	2q33.2	ICOS, CTLA4, CD28	rs4675374-A	0.22	6E-9		1.14	[1.09-1.19]	Illumina [292387]	N
2148	chr2	204983553	204983554	rs16840760	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q33.3	ICOS	rs16840760-G	0.0060	1E-6	(AST/ALT)	0.03	[NR] unit increase	Illumina [899892]	N
2150	chr2	205128020	205128021	rs6738181	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	2q33.3	intergenic	rs6738181-A	0.19	5E-6				Affymetrix [614963]	N
2151	chr2	205368457	205368458	rs4673301	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second)	1,015 European ancestry individuals, 541 African American individuals	NA	2q33.3	NR	rs4673301-?		4E-6	(EA)			Illumina [up to 524000]	N
2154	chr2	205761831	205761832	rs13023239	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	2q33.3	PARD3B	rs13023239-A		3E-6		112.73	[65.51-159.95] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
2155	chr2	205864831	205864832	rs2335704	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	2q33.3	intergenic	rs2335704-C	0.20	2E-6		1.19	[1.10-1.30]	Affymetrix [> 333754] (imputed)	N
2157	chr2	206060636	206060637	rs10153620	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	2q33.3	NR	rs10153620-C		6E-6				Illumina [2373249] (imputed)	N
2157	chr2	206063297	206063298	rs11681930	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	2q33.3	NR	rs11681930-A		5E-6				Illumina [2373249] (imputed)	N
2157	chr2	206086170	206086171	rs4675502	22843504	Anney R	2012-07-26	Hum Mol Genet	Individual common variants exert weak effects on the risk for autism spectrum disorderspi.	Autism	1,419 European ancestry cases from 1416 families	1,314 European ancestry cases from 1301 families	2q33.3	PARD3B	rs4675502-?	NR	4E-7	(Strict, all)	1.28	[1.16-1.41]	Illumina [947233]	N
2157	chr2	206150593	206150594	rs1207421	18471798	Valdes AM	2008-05-08	Am J Hum Genet	Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis.	Knee osteoarthritis	357 European ancestry cases, 285 European ancestry controls	1,177 European ancestry cases, 2,372 European ancestry controls	2q33.3	PARD3B	rs1207421-?	0.09	6E-6		1.46	[1.24-1.73]	Illumina [413461]	N
2158	chr2	206305261	206305262	rs61741390	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q33.3	PARD3B, LOC100132669, NRP2	rs61741390-G	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
2159	chr2	206318592	206318593	rs11884476	21502085	Troyer JL	2011-05-01	J Infect Dis	Genome-wide association study implicates PARD3B-based AIDS restriction.	AIDS progression	755 European ancestry seroconverter cases	NA	2q33.3	PARD3B	rs11884476-?	0.94	3E-9		3.32	[NR]	Affymetrix [700022]	N
2163	chr2	206836611	206836612	rs7603514	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	2q33.3	FLJ20309	rs7603514-A	0.20	8E-6		1.36	[1.19-1.56]	Illumina [457251]	N
2165	chr2	207121781	207121782	rs2058710	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	2q33.3	ZDBF2, GPR1, ADAM23	rs2058710-A	NR	9E-6		1.24	[NR]	Affymetrix [745006]	N
2166	chr2	207244782	207244783	rs972540	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q33.3	ADAM23	rs972540-G	0.269	2E-7	(EA)	0.018	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2166	chr2	207244782	207244783	rs972540	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q33.3	ADAM23	rs972540-G	0.266	4E-7		0.017	[0.01-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2168	chr2	207577854	207577855	rs75358501	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q33.3	NR	rs75358501-?	NR	3E-7	(AA)	0.8915	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2169	chr2	207634235	207634236	rs2277912	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Height	1,792 Filipino ancestry females	NA	2q33.3	FASTKD2	rs2277912-G	0.15	5E-6		1.07	[0.62-1.52] cm increase	Affymetrix [2073674] (imputed)	N
2169	chr2	207646673	207646674	rs7594645	25385369	Ramanan VK	2014-11-11	Mol Psychiatry	FASTKD2 is associated with memory and hippocampal structure in older adults.	Episodic memory	5,283 European ancestry individuals, 817 African American individuals, 605 individuals	6,687 European ancestry individuals, 711 African American individuals, 363 individuals	2q33.3	FASTKD2, MIR3130-1, MIR3130-2	rs7594645-G	0.072	4E-9		0.072	unit increase	Illumina [1681327]	N
2169	chr2	207717782	207717783	rs6755560	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	2q33.3	FASTKD2	rs6755560-T	0.32	2E-6	(Tri-Tetra/cyclic antidepressants)			Affymetrix, Illumina [~ 2500000] (imputed)	N
2170	chr2	207840331	207840332	rs4675644	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	2q33.3	intergenic	rs4675644-?	NR	9E-6	(FEV1 decline in non-asthmatics)	0.1808	[0.10-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
2170	chr2	207877464	207877465	rs1453160	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2q33.3	CPO	rs1453160-A	0.13	4E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
2172	chr2	208012508	208012509	rs2284932	25985088	Oguchi T	2015-05-18	PLoS One	Investigation of susceptibility genes triggering lachrymal/salivary gland lesion complications in Japanese patients with type 1 autoimmune pancreatitis.	Lachrymal/Salivary gland lesion in type 1 autoimmune pancreatitis	50 Japanese ancestry cases with lesions, 53 Japanese ancestry cases without lesions	NA	2q33.3	KLF7	rs2284932-C	NR	3E-6		4.35	[2.32-8.16]	Affymetrix [12033]	N
2173	chr2	208255517	208255518	rs17203016	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q33.3	CREB1	rs17203016-G	0.197	8E-8	(EA)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2173	chr2	208255517	208255518	rs17203016	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q33.3	CREB1	rs17203016-G	0.197	6E-6	(EA, men)	0.023	[0.013-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2173	chr2	208255517	208255518	rs17203016	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q33.3	CREB1	rs17203016-G	0.195	3E-8		0.021	[0.014-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2174	chr2	208330429	208330430	rs10932194	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q33.3	NR	rs10932194-G	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
2174	chr2	208372995	208372996	rs2360969	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	2q33.3	CREB1	rs2360969-T	0.413	1E-6	(BSA-b)	0.21	[NR] unit decrease	Illumina [944565] (imputed)	N
2175	chr2	208489100	208489101	rs4234080	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2q33.3	FAM119A	rs4234080-?		2E-7				Illumina [859311]	N
2175	chr2	208494233	208494234	rs2952768	23183491	Nishizawa D	2012-11-27	Mol Psychiatry	Genome-wide association study identifies a potent locus associated with human opioid sensitivity.	Opioid sensitivity	118 Japanese ancestry individuals	235 Japanese ancestry individuals	2q33.3	METTL21A, FAM119A	rs2952768-C	NR	8E-7		0.2932	unit increase	Illumina [295036]	N
2179	chr2	208994044	208994045	rs2242073	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	2q33.3	CRYGC	rs2242073-?	NR	8E-6				Affymetrix [504219]	N
2183	chr2	209455765	209455766	rs6722486	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2q34	PTH2R	rs6722486-?		3E-6				Illumina [859311]	N
2183	chr2	209578599	209578600	rs13383928	22637743	Wei S	2012-05-27	Carcinogenesis	Genome-wide gene-environment interaction analysis for asbestos exposure in lung cancer susceptibility.	Lung cancer (asbestos exposure interaction)	1,154 European ancestry cases, 1,137 European ancestry controls	NA	2q34	PTHR2	rs13383928-C	0.04	2E-6				Illumina [307944]	N
2187	chr2	210041386	210041387	rs79844775	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q34	NR	rs79844775-C	NR	9E-6		1.2048193	[NR]	Illumina [7158791] (imputed)	N
2188	chr2	210123031	210123032	rs12478665	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	2q34	intergenic	rs12478665-T		8E-6		112.18	[63.02-161.34] unit increase	Affymetrix, Illumina [at least 646791] (imputed)	N
2193	chr2	210874245	210874246	rs3738934	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q34	ACADL	rs3738934-T	0.62	1E-134	(X-13431--nonanoylcarnitine)	0.106	[0.098-0.114] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2195	chr2	211060049	211060050	rs2286963	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	2q34	CPS1, ACADL	rs2286963-T	0.6338	3E-118	(Nonaylcarnitine)	0.2057	[0.19-0.22] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
2195	chr2	211060049	211060050	rs2286963	20037589	Illig T	2009-12-27	Nat Genet	A genome-wide perspective of genetic variation in human metabolism.	Metabolite levels	1,029 European ancestry individuals	1,202 European ancestry individuals	2q34	ACADL	rs2286963-T	0.37	3E-60	(C9/C10:2)	13.8	[NR] % variance	Affymetrix [517480]	N
2195	chr2	211074908	211074909	rs3764913	23281178	Hong MG	2013-03-01	Hum Mutat	A genome-wide assessment of variability in human serum metabolism.	Metabolite levels	214 European ancestry prostate cancer cases, 188 European ancestry controls	489 European ancestry prostate cancer cases	2q34	ACADL	rs3764913-T	NR	4E-29	(2,6 dimethylheptanoyl carnitine)			Affymetrix [333722]	N
2195	chr2	211132414	211132415	rs1509569	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	2q34	ACADL	rs1509569-A	0.44	3E-18	(0.8475, Unknown)	0.32	[NR] unit increase	Illumina [713870] (imputed)	N
2198	chr2	211495586	211495587	rs12468557	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in asthmatics	1,881 European ancestry children, 810 children, 2,643 European ancestry adult individuals, 817 adult individuals	979 European ancestry children, 921 Hispanic children, 120 children	2q34	CPS1	rs12468557-T	0.38	9E-6	(adult)			Illumina [up to 536451]	N
2198	chr2	211540506	211540507	rs1047891	24651765	Williams SR	2014-03-20	PLoS Genet	Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.	Plasma homocysteine levels (post-methionine load test)	2,710 European and other ancestry individuals, 1,725 European ancestry individuals, 258 African ancestry individuals, 117 individuals	NA	2q34	CPS1	rs1047891-A	0.306	9E-13		0.191	[0.12-0.26] unit increase	Affymetrix, Illumina [up to 11000000] (imputed)	N
2198	chr2	211540506	211540507	rs1047891	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2q34	CPS1	rs1047891-A	0.33	9E-10		0.027	[NR] unit decrease	NR [NR] (imputed)	N
2198	chr2	211543054	211543055	rs715	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Amino acid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	2q34	CPS1, ACADL	rs715-T	0.6925	3E-11	(Serine)	0.0311	[0.022-0.04] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
2198	chr2	211543054	211543055	rs715	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q34	CPS1	rs715-C	0.315	7E-6	(EA)	0.022	[0.012-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2198	chr2	211543054	211543055	rs715	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q34	CPS1	rs715-C	0.315	4E-6		0.022	[0.013-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2198	chr2	211543054	211543055	rs715	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q34	CPS1	rs715-T	0.72	7E-35	(X-08988)	0.033	[0.027-0.039] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2198	chr2	211543054	211543055	rs715	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q34	CPS1	rs715-T	0.72	4E-16	(glutaroyl carnitine)	0.022	[0.016-0.028] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2198	chr2	211543054	211543055	rs715	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q34	CPS1	rs715-T	0.71	7E-58	(N-acetylglycine)	0.091	[0.079-0.103] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2198	chr2	211543054	211543055	rs715	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q34	CPS1	rs715-T	0.71	3E-21	(serine)	0.022	[0.018-0.026] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2198	chr2	211543054	211543055	rs715	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q34	CPS1	rs715-T	0.71	2E-19	(betaine)	0.022	[0.016-0.028] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2198	chr2	211543054	211543055	rs715	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q34	CPS1	rs715-T	0.71	2E-16	(pyroglutamine)	0.036	[0.028-0.044] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2198	chr2	211543054	211543055	rs715	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q34	CPS1	rs715-T	0.71	2E-147	(glycine)	0.076	[0.07-0.082] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2198	chr2	211543054	211543055	rs715	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q34	CPS1	rs715-T	0.71	1E-24	(creatine)	0.045	[0.037-0.053] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2198	chr2	211543054	211543055	rs715	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	2q34	CPS1	rs715-T	0.68	2E-11	(EA)	0.009	[0.007-0.011] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
2198	chr2	211543054	211543055	rs715	23378610	Xie W	2013-02-01	Diabetes	Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.	Metabolite levels	1,004 European ancestry individuals	339 European ancestry individuals	2q34	CPS1	rs715-T	0.68	3E-50	(glycine)	0.61	[0.53-0.69] unit decrease	Affymetrix [909508] (imputed)	N
2199	chr2	211569721	211569722	rs2371030	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	2q34	CPS1	rs2371030-G	0.091	3E-6	(Additive model)			Affymetrix [271817]	N
2199	chr2	211581244	211581245	rs16844839	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Amino acid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	2q34	CPS1, ACADL	rs16844839-T	0.1995	3E-99	(Glycine)	0.1212	[0.11-0.13] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
2199	chr2	211608378	211608379	rs4673553	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	2q34	CPS1	rs4673553-G	0.45	3E-6	(women)	0.099	[0.058-0.14] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
2199	chr2	211616893	211616894	rs2216405	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	2q34	CPS1	rs2216405-G	0.177	2E-27	(glycine + 17 other traits)	0.117	[NR] unit increase	Affymetrix, Illumina [534665]	N
2201	chr2	211840827	211840828	rs12991650	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	2q34	intergenic	rs12991650-?	NR	3E-6	(Additive model)	0.41	unit decrease	Illumina [542562]	N
2202	chr2	211972466	211972467	rs178585	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	2q34	CPS1, RPS27P10	rs178585-C	0.47	4E-6		1.13	[1.07-1.19]	NR [NR]	N
2209	chr2	212868623	212868624	rs1879637	23903073	Kim HN	2013-08-01	J Hum Genet	Genome-wide association study of the five-factor model of personality in young Korean women.	Personality dimensions	1,089 Korean ancestry females	2,090 Korean ancestry individuals	2q34	ERBB4	rs1879637-C		4E-6	(Openness)	0.1	[-0.0176-0.2176] unit increase	Illumina [2053685] (imputed)	N
2209	chr2	212914725	212914726	rs1464443	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2q34	ERBB4	rs1464443-?		1E-6				Illumina [859311]	N
2211	chr2	213168767	213168768	rs7588550	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	2q34	ERBB4	rs7588550-A	0.95	2E-7	(T1DN)	1.52	[1.30-1.79]	Affymetrix, Illumina [~ 2500000] (imputed)	N
2211	chr2	213189728	213189729	rs4673659	24824216	Myers RA	2014-05-13	Hum Mol Genet	Genome-wide interaction studies reveal sex-specific asthma risk alleles.	Asthma (sex interaction)	1,052 European ancestry male cases, 1,019 European ancestry female cases, 709 European ancestry male controls, 826 European ancestry female controls, 675 African American/African Caribbean male cases, 837 African American/African Caribbean female cases, 577 African American/African Caribbean male controls, 926 African American/African Caribbean female controls, 926 Latino male cases, 710 Latino female cases, 410 Latino male controls, 382 Latino female controls	NA	2q34	ERBB4	rs4673659-C	0.72	9E-7	(Latino, female)	1.42	[1.23-1.64]	Affymetrix, Illumina [~ 2100000] (imputed)	N
2212	chr2	213296862	213296863	rs13393577	22452962	Kim HC	2012-03-27	Breast Cancer Res	A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study.	Breast cancer	2,273 Korean ancestry cases, 2,052 Korean ancestry controls	4,049 Korean ancestry cases, 3,845 Korean ancestry controls	2q34	ERBB4	rs13393577-T	0.051	9E-14		1.53	[1.37-1.70]	Affymetrix [555525]	N
2212	chr2	213297252	213297253	rs1505368	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	2q34	NR	rs1505368-A	0.509	1E-6		0.097	[0.058-0.136] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
2213	chr2	213413230	213413231	rs7599312	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q34	ERBB4	rs7599312-G	0.724	9E-9	(EA, men)	0.026	[0.017-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2213	chr2	213413230	213413231	rs7599312	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q34	ERBB4	rs7599312-G	0.724	1E-10	(EA)	0.022	[0.015-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2213	chr2	213413230	213413231	rs7599312	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q34	ERBB4	rs7599312-G	0.721	5E-11		0.021	[0.015-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2214	chr2	213593969	213593970	rs7565158	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index (change over time)	2,643 Bangladeshi ancestry females, 2,340 Bangladeshi ancestry males	NA	2q34	ERBB4, MIR4776-2	rs7565158-A	0.495	6E-7		0.136	[0.083-0.189] unit increase	Illumina [1208102] (imputed)	N
2214	chr2	213609251	213609252	rs10497985	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	2q34	intergenic	rs10497985-?	NR	4E-6	(EA)	0.0169	[.009684-0.02406] unit increase	Illumina [1530316]	N
2216	chr2	213824044	213824045	rs12619285	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	2q34	IKZF2	rs12619285-G	0.74	5E-10	(EA)	6.3	[4.3-8.3] % standard unit increase	Illumina [312179]	N
2221	chr2	214548536	214548537	rs6707387	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	2q34	SPAG16	rs6707387-A	0.272	1E-6	(Protein (control))			Affymetrix [590000]	N
2221	chr2	214548536	214548537	rs6707387	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	2q34	SPAG16	rs6707387-A	0.272	6E-7	(Protein (control))			Affymetrix [590000]	N
2224	chr2	214838512	214838513	rs9789347	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q34	SPAG16	rs9789347-A	0.326	8E-6	(Total glutathione )	0.03	[NR] umol/L increase	Illumina [899892]	N
2224	chr2	214917401	214917402	rs1510552	24152035	Goodbourn PT	2013-10-23	Genes Brain Behav	Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.	Contrast sensitivity	985 European ancestry individuals	NA	2q34	SPAG16	rs1510552-?	0.1593	1E-6		3.04	[NR] unit increase	Illumina [642758]	N
2226	chr2	215188618	215188619	rs16851771	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q34	SPAG16	rs16851771-G	0.061	2E-6	(Urinary free dopamine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
2227	chr2	215257670	215257671	rs10167079	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q34	SPAG16	rs10167079-G	0.894	3E-6	(EA)	0.024	[0.014-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2227	chr2	215341889	215341890	rs7604827	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	PR interval	455 African American individuals	NA	2q34	VWC2L	rs7604827-C		5E-6		6.54	[NR] ms increase	Illumina [> 930000]	N
2230	chr2	215635793	215635794	rs3768716	21124317	Wang K	2010-12-01	Nature	Integrative genomics identifies LMO1 as a neuroblastoma oncogene.	Neuroblastoma	1,627 European ancestry child cases, 3,254 European ancestry child controls	624 European ancestry child cases, 2,843 European ancestry child controls	2q35	BARD1	rs3768716-C	0.23	5E-13		1.386	[NR]	Illumina [480279]	N
2230	chr2	215653886	215653887	rs7587476	22941191	Diskin SJ	2012-09-02	Nat Genet	Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.	Neuroblastoma	2,101 European ancestry cases, 4,202 European ancestry controls	351 European ancestry cases, 780 European ancestry controls, 365 African American cases, 2,491 African American controls	2q35	BARD1	rs7587476-T	0.246	4E-14		1.372	[NR]	Illumina [426697]	N
2230	chr2	215672545	215672546	rs6435862	19412175	Capasso M	2009-05-03	Nat Genet	Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.	Neuroblastoma (high-risk)	397 European ancestry cases, 2,043 European ancestry controls	371 European ancestry cases, 2,119 European ancestry controls	2q35	BARD1	rs6435862-G	0.29	9E-18		1.68	[1.49-1.90]	Illumina [462866]	N
2232	chr2	215929124	215929125	rs10210200	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	2q35	NR	rs10210200-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
2233	chr2	216114256	216114257	rs10932600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	2q35	ATIC	rs10932600-A	NR	1E-6	(WAP, Cases)	0.32	[0.19-0.45] unit decrease	Illumina [7600000] (imputed)	N
2235	chr2	216285374	216285375	rs17458018	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	2q35	FN	rs17458018-?	NR	7E-6		1.22	[NR]	Affymetrix [~ 5000000] (imputed)	N
2235	chr2	216304383	216304384	rs1250229	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2q35	FN1	rs1250229-T	0.27	3E-8		0.024	[NR] unit decrease	NR [NR] (imputed)	N
2237	chr2	216614925	216614926	rs6758001	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	2q35	LINC00607	rs6758001-?		9E-6		0.638	[NR] unit increase	Illumina [5970354] (imputed)	N
2237	chr2	216631365	216631366	rs4674024	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	2q35	LINC00607	rs4674024-?		2E-6	(males)			Illumina [1211988] (imputed)	N
2239	chr2	216860549	216860550	rs3770549	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	2q35	MREG	rs3770549-?	NR	3E-6		0.161	[0.092-0.230] unit increase	Illumina [> 2500000] (imputed)	N
2239	chr2	216893636	216893637	rs1344694	22004471	Frank J	2011-10-18	Addict Biol	Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.	Alcohol dependence	1,333 European ancestry male cases, 2,168 European ancestry male controls	NA	2q35	NR	rs1344694-?	NR	5E-6		1.27	[1.15-1.41]	Illumina [463044]	N
2239	chr2	216898657	216898658	rs7590720	19581569	Treutlein J	2009-07-01	Arch Gen Psychiatry	Genome-wide association study of alcohol dependence.	Alcohol dependence	476 European ancestry cases, 1,358 European ancestry controls	1,024 European ancestry cases, 996 European ancestry controls	2q35	PECR	rs7590720-G	0.29	1E-8		1.35	[1.22-1.49]	Illumina [524396]	N
2242	chr2	217208570	217208571	rs6756590	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	2q35	MARCH4	rs6756590-?	0.56	1E-6		1.14	[1.08-1.2]	Illumina [1246388] (imputed)	N
2244	chr2	217481270	217481271	rs9288520	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer  (alcohol interaction)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	2q35	IGFB2	rs9288520-?	0.34	4E-11		1.33	[1.22-1.45]	NR [NR]	N
2244	chr2	217554212	217554213	rs2241193	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2q35	IGFBP5	rs2241193-C	0.89	1E-7	(men)			Affymetrix, Illumina [2500000] (imputed)	N
2245	chr2	217625522	217625523	rs13015993	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	2q35	IGFBP5	rs13015993-A	0.736	8E-11	(TSH - Males)	0.095	[0.066-0.124] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2245	chr2	217625522	217625523	rs13015993	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	2q35	IGFBP5	rs13015993-A	0.736	3E-15	(TSH)	0.078	[0.058-0.098] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2245	chr2	217625522	217625523	rs13015993	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	2q35	IGFBP5	rs13015993-A	0.736	2E-7	(TSH - Females)	0.069	[0.044-0.094] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2245	chr2	217628429	217628430	rs1861628	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	2q35	IGFBP5	rs1861628-T	0.27	4E-6	(EA)	0.05	[0.03-0.07] unit decrease	Illumina [up to 905285]	N
2247	chr2	217863480	217863481	rs10932688	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		2q35	NA	rs10932688-G	NR	3E-8		0.143	[0.092-0.194] unit increase	Illumina [2446724] (imputed)	N
2247	chr2	217878208	217878209	rs6435957	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (number of teeth)	5,752 European ancestry related individuals	NA	2q35	intergenic	rs6435957-T	0.37	4E-7		0.37	% variance	Illumina [300766]	N
2247	chr2	217894402	217894403	rs12465515	26301497	Dina C	2015-08-24	Nat Genet	Genetic association analyses highlight biological pathways underlying mitral valve prolapse.	Mitral valve prolapse	1,442 European ancestry cases, 2,439 European ancestry controls	1,422 European ancestry cases, 6,779 European ancestry controls	2q35	IGFBP5, TNS1, TNP1, IGFBP2, DIRC3	rs12465515-C	0.34	3E-11		1.25	[1.18-1.33]	Affymetrix, Illumina [~ 4800000] (imputed)	N
2247	chr2	217894755	217894756	rs4491709	21931568	Geller F	2011-09-08	PLoS Genet	Genome-wide association study identifies four loci associated with eruption of permanent teeth.	Permanent tooth development	5,088 European ancestry females	2,994 European ancestry individuals, 161 individuals	2q35	TNP1	rs4491709-T	0.71	2E-14		0.102	[0.07-0.13] unit decrease	Illumina [521741]	N
2247	chr2	217905831	217905832	rs13387042	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	2q35	intergenic	rs13387042-A	0.51	2E-57		1.14	[1.11-1.16]	Affymetrix, Illumina [~ 2600000] (imputed)	N
2247	chr2	217905831	217905832	rs13387042	21263130	Fletcher O	2011-01-24	J Natl Cancer Inst	Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.	Breast cancer	2,839 European ancestry cases, 3,507 European ancestry controls	9,041 European ancestry cases, 8,980 European ancestry controls	2q35	intergenic	rs13387042-A	0.52	2E-10		1.16	[1.11-1.22]	Illumina [~ 296114]	N
2247	chr2	217905831	217905832	rs13387042	20872241	Li J	2010-09-26	Breast Cancer Res Treat	A combined analysis of genome-wide association studies in breast cancer.	Breast cancer	2,702 European ancestry female cases, 5,726 European ancestry controls	Up to 7,386 cases, 7,576 controls	2q35	intergenic	rs13387042-?	0.53	9E-6		1.18	[1.10-1.27]	Illumina [285984]	N
2247	chr2	217905831	217905832	rs13387042	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	2q35	intergenic	rs13387042-A	0.49	2E-10		1.21	[1.14-1.29]	Illumina [582886]	N
2247	chr2	217905831	217905832	rs13387042	19330030	Thomas G	2009-03-29	Nat Genet	A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).	Breast cancer	1,145 European ancestry cases, 1,142 European ancestry controls	8,625 European ancestry cases, 9,657 European ancestry controls	2q35	intergenic	rs13387042-A	0.51	2E-8		1.25	[1.15-1.37] (Het)	Illumina [528173]	N
2247	chr2	217905831	217905832	rs13387042	17529974	Stacey SN	2007-05-27	Nat Genet	Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.	Breast cancer	1,599 European ancestry cases, 11,546 European ancestry controls	2,954 European ancestry cases, 5,967 European ancestry controls, Up to 561 Japanese ancestry cases, Up to 565 Japanese ancestry control, Up to 422 African American cases, Up to 448 African American controls, Up to 418 Hispanic cases, Up to 422 Hispanic controls, Up to 148 cases, Up to 293 controls	2q35	intergenic	rs13387042-A	0.50	1E-13		1.2	[1.14-1.26]	Illumina [311524]	N
2249	chr2	218123647	218123648	rs2553026	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	2q35	intergenic	rs2553026-A	0.19	6E-8		0.056	[0.036-0.076] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
2249	chr2	218146079	218146080	rs17181956	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2q35	TNP1	rs17181956-T	0.129	4E-9		0.028	[0.018-0.038] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2250	chr2	218271718	218271719	rs6759952	23894154	Kohler A	2013-07-26	J Clin Endocrinol Metab	Genome-wide association study on differentiated thyroid cancer.	Thyroid cancer	690 European ancestry cases, 497 European ancestry controls	2,958 European ancestry cases, 3,727 European ancestry controls	2q35	DIRC3	rs6759952-T	0.43	6E-10		1.25	[1.16-1.34]	Illumina [572042]	N
2250	chr2	218271897	218271898	rs1351164	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2q35	TNS1	rs1351164-T	0.4	9E-6		0.021	[0.0092-0.0328] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
2250	chr2	218271897	218271898	rs1351164	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2q35	TNS1	rs1351164-T	0.79	2E-14		0.034	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
2250	chr2	218284277	218284278	rs994533	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2q35	TNS1	rs994533-C	0.331	1E-17		0.027	[0.021-0.033] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2250	chr2	218296507	218296508	rs16857609	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	2q35	DIRC3	rs16857609-T	0.26	1E-15		1.08	[1.06-1.10]	Affymetrix, Illumina [~ 2600000] (imputed)	N
2250	chr2	218310339	218310340	rs966423	22267200	Gudmundsson J	2012-01-22	Nat Genet	Discovery of common variants associated with low TSH levels and thyroid cancer risk.	Thyroid cancer	27,758 European ancestry individuals	1,156 European ancestry cases, up to 42,617 European ancestry controls	2q35	DIRC3	rs966423-C	0.442	1E-9		1.34	[1.22-1.47]	Illumina [~ 16000000] (imputed)	N
2250	chr2	218314252	218314253	rs11689435	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	2q35	DIRC3	rs11689435-T		4E-6		0.2941	unit increase	Illumina [5767231] (imputed)	N
2251	chr2	218395144	218395145	rs1002353	25387708	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of acoustic startle eye blink and affectively modulated startle response: A genome-wide association study.	Acoustic startle blink response	3,323 European ancestry twins and their parents	NA	2q35	DIRC3	rs1002353-?	NR	6E-7	(Pleasant Difference Startle Scores)	0.093	[0.056-0.13] unit increase	Illumina [527829]	N
2251	chr2	218472171	218472172	rs1549733	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	2q35	DIRC3	rs1549733-T	0.21	8E-8	(EA)	0.033	[0.021-0.045] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
2251	chr2	218472171	218472172	rs1549733	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	2q35	DIRC3	rs1549733-T	0.21	4E-9		0.031	[0.021-0.041] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
2252	chr2	218523161	218523162	rs6435999	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	2q35	intergenic	rs6435999-A	0.64	7E-7		0.041	[0.025-0.057] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
2253	chr2	218677585	218677586	rs76043829	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	2q35	TNS1	rs76043829-A		6E-7		1.2133	[1.14-1.29]	Illumina [up to 4972397] (imputed)	N
2253	chr2	218683153	218683154	rs2571445	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	2q35	TNS1	rs2571445-?	NR	8E-9	(FEV1, Ever-smoking)			NR [~ 2500000] (imputed)	N
2253	chr2	218683153	218683154	rs2571445	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	2q35	TNS1	rs2571445-G	0.60	1E-12	(FEV1)	0.035	[0.025-0.045] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2253	chr2	218729864	218729865	rs3791950	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	2q35	TNS1	rs3791950-A	0.89	2E-6		0.061	[0.036-0.086] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
2255	chr2	219010145	219010146	rs11676348	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	2q35	IL8RA, SLC11A1, IL8RB, AAMP, ARPC	rs11676348-T	0.49	1E-10		1.07	[1.03-1.11]	Affymetrix, Illumina [~ 1100000] (imputed)	N
2256	chr2	219081296	219081297	rs13403276	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q35	ARPC2	rs13403276-G	0.027	7E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
2256	chr2	219081296	219081297	rs13403276	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q35	ARPC2	rs13403276-G	0.027	3E-6	(Energy intake )	0.03	[NR] kcal/d increase	Illumina [899892]	N
2256	chr2	219084532	219084533	rs6733051	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q35	ARPC2	rs6733051-A	0.01	2E-6	(BMR RQ)	0.04	[NR] unit increase	Illumina [899892]	N
2256	chr2	219099483	219099484	rs10932765	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	2q35	ARPC2	rs10932765-?	NR	9E-9		0.0106	[0.0069-0.0143] unit decrease	Illumina [NR] (imputed)	N
2256	chr2	219112955	219112956	rs13392177	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Pyoderma gangrenosum in inflammatory bowel disease	92 European ancestry cases, 5,664 European ancestry controls	NA	2q35	APRC2, GPBAR1, HMG1L9	rs13392177-C	NR	5E-6		2.3	[1.60-3.40]	Illumina [2017629] (imputed)	N
2256	chr2	219121662	219121663	rs11677953	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q35	NR	rs11677953-?	NR	3E-15	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
2256	chr2	219130513	219130514	rs1079204	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	2q35	CXCR2, AAMP, CXCR1	rs1079204-A	0.0378	2E-6		8.4526	[NR] unit increase	Illumina [1200000] (imputed)	N
2256	chr2	219151217	219151218	rs2382817	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q35	NR	rs2382817-A	0.3988	2E-8	(EA)	1.0740336	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2256	chr2	219151217	219151218	rs2382817	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q35	NR	rs2382817-A	0.3988	4E-9	(EA)	1.0738211	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2256	chr2	219151217	219151218	rs2382817	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2q35	ARPC2, TMBIM1, CTDSP1, SLC11A1, CXCR2, CXCR1, PNKD	rs2382817-A	0.408	4E-12		1.073	[1.042-1.104]	Affymetrix, Illumina [1230000] (imputed)	N
2257	chr2	219279096	219279097	rs7607369	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	2q35	intergenic	rs7607369-A	0.42	7E-6	(Meta)	1.15	[1.08-1.24]	Illumina [254145]	N
2258	chr2	219349751	219349752	rs492400	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q35	USP37	rs492400-C	0.426	5E-7		0.015	[0.0091-0.0209] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2258	chr2	219349751	219349752	rs492400	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q35	USP37	rs492400-C	0.424	7E-9	(EA, men)	0.024	[0.016-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2258	chr2	219349751	219349752	rs492400	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q35	USP37	rs492400-C	0.423	4E-7	(EA)	0.016	[0.0097-0.0219] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2259	chr2	219472324	219472325	rs611203	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2q35	PLCD4	rs611203-A	0.77	2E-10		0.037	[0.021-0.053] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
2259	chr2	219514758	219514759	rs10187066	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2q35	IHH	rs10187066-?	NR	2E-7	(Conditioned on rs12470505)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
2259	chr2	219545308	219545309	rs2303565	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	2q35	STK36, TTLL4, ZNF142	rs2303565-C	0.43	6E-7	(Meta)	1.17	[1.1-1.24]	Illumina [254145]	N
2260	chr2	219587290	219587291	rs1541777	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2q35	TTLL4	rs1541777-A	0.84	2E-8		0.036	[0.018-0.054] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
2261	chr2	219699998	219699999	rs78058190	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	2q35	PRKAG3	rs78058190-A	0.05	6E-12		0.141	[0.1-0.18] unit decrease	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2261	chr2	219756382	219756383	rs7349332	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	2q35	WNT10A	rs7349332-T	0.14	3E-14	(hair curl)	0.19	[NR] unit increase	Illumina [535076]	N
2261	chr2	219756382	219756383	rs7349332	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	2q35	WNT10A	rs7349332-T	NR	1E-6				Illumina [~ 1000000] (imputed)	N
2262	chr2	219829205	219829206	rs359980	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q35	CDK5R2	rs359980-G	0.054	7E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
2262	chr2	219840890	219840891	rs359965	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	2q35	FEV, LOC151300	rs359965-?		2E-6	(EA)			Illumina [NR]	N
2262	chr2	219908368	219908369	rs12470505	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2q35	CCDC108/IHH	rs12470505-T	0.9	9E-12		0.041	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
2262	chr2	219934347	219934348	rs1052483	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	2q35	IHH, CRYBA2, FEV, SLC23A3, TUBA1	rs1052483-C	0.91	1E-6		6.9	[4.16-9.64] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
2263	chr2	219943845	219943846	rs6724465	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	2q35	IHH	rs6724465-A	0.1	2E-8		0.06	[0.02-0.10] s.d. decrease (males)	Affymetrix [402951]	N
2263	chr2	219949183	219949184	rs16859517	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2q35	NHEJ1	rs16859517-T	0.039	5E-17		0.067	[0.051-0.083] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2263	chr2	219949183	219949184	rs16859517	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	2q35	IHH	rs16859517-T	0.39	5E-6		0.05	[0.03-0.07] cm increase	Illumina [420885]	N
2263	chr2	219983029	219983030	rs7588654	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2q35	NHEJ1	rs7588654-T	0.53	1E-23		0.051	[0.039-0.063] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
2263	chr2	220028899	220028900	rs6753739	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2q35	SLC23A3	rs6753739-A	0.54	1E-11		0.031	[0.019-0.043] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
2263	chr2	220061600	220061601	rs6707588	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q35	NR	rs6707588-T	NR	9E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
2264	chr2	220146401	220146402	rs3731896	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2q35	intergenic	rs3731896-T	0.174	5E-6		0.029	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2268	chr2	220668737	220668738	rs3815854	25775280	Sun Y	2015-03-16	Nat Commun	Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.	Nonsyndromic cleft lip with or without cleft palate	858 Chinese ancestry cases, 1,248 Chinese ancestry controls	1,663 Chinese ancestry cases,  1,874 Chinese ancestry controls	2q35	NR	rs3815854-A	NR	3E-7		1.25	[1.15-1.35]	Affymetrix [842556]	N
2268	chr2	220668737	220668738	rs3815854	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	2q35	NR	rs3815854-?	NR	7E-6	(Meta-All, NSCL/P)			NR [497084]	N
2268	chr2	220698124	220698125	rs10498070	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	2q35	DNPEP	rs10498070-?		2E-7	(lcSSc)	1.16	[NR]	Illumina [NR]	N
2270	chr2	220864653	220864654	rs10198756	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q35	NR	rs10198756-C	0.139068532490975	3E-6	(IGP77)	0.2053	[0.12-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
2276	chr2	221720087	221720088	rs10932886	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	2q36.1	EPHA4	rs10932886-?	NR		<1 x 10<sup>-6</sup> (multiple phenotypes)			Illumina [530992]	N
2277	chr2	221899443	221899444	rs10498091	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Echocardiographic traits	Up to 1,238 European ancestry individuals	NA	2q36.1	intergenic	rs10498091-?	NR	6E-6	(LVM)			Affymetrix [70897]	N
2279	chr2	222072177	222072178	rs17348202	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		2q36.1	EPHA4	rs17348202-G	0.05	1E-6		4.85	[2.57-9.13]	Illumina [518577]	N
2280	chr2	222178866	222178867	rs1430246	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	2q36.1	EPHA4, SLC4A3	rs1430246-?		2E-7	(IFN gamma response)			Illumina [NR]	N
2280	chr2	222207612	222207613	rs12622686	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q36.1	LOC100129746, EPHA4	rs12622686-G	0.429	5E-6		0.0		Illumina [1556551]	N
2281	chr2	222357960	222357961	rs10189230	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	2q36.1	EPHA4	rs10189230-T	0.58	4E-6	(men)	0.092	[0.053-0.131] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
2284	chr2	222801698	222801699	rs824931	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	2q36.1	NR	rs824931-G	0.35	3E-6	(females + males)	0.07	[NR] kg increase	Illumina [318237]	N
2285	chr2	222870105	222870106	rs6436285	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q36.1	HSPA9P, PAX3	rs6436285-G	0.026	5E-6		3.9	[2.08-7.31]	Illumina [1556551]	N
2285	chr2	222881517	222881518	rs1559473	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2q36.1	PAX3	rs1559473-?		1E-6				Illumina [859311]	N
2285	chr2	222921915	222921916	rs13391419	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q36.1	HSPA9P, PAX3	rs13391419-A	0.026	5E-6		3.9	[2.08-7.31]	Illumina [1556551]	N
2285	chr2	222922523	222922524	rs1007119	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	2q36.1	LOC646644	rs1007119-?	NR	1E-6		2.907	[1.79-4.03] unit decrease	Illumina [498648]	N
2285	chr2	222922523	222922524	rs1007119	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	2q36.1	LOC646644	rs1007119-?	NR	9E-8		1.981	[1.3-2.66] unit decrease	Illumina [498648]	N
2286	chr2	223049020	223049021	rs6730714	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	2q36.1	PAX3	rs6730714-A	0.04	1E-6	(Age 6)	1.18	[1.10-1.26] unit increase	Illumina [2461244] (imputed)	N
2286	chr2	223068285	223068286	rs7559271	22341974	Paternoster L	2012-02-16	Am J Hum Genet	Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position.	Facial morphology	2,185 European ancestry adolescent individuals	1,622 European ancestry adolescent individuals	2q36.1	PAX3	rs7559271-G	NR	4E-16	(n-men 3D dist)	0.388	[0.30-0.48] mm increase	Illumina [2543887] (imputed)	N
2287	chr2	223100522	223100523	rs2118666	25869804	Ibrahim-Verbaas CA	2015-04-14	Mol Psychiatry	GWAS for executive function and processing speed suggests involvement of the CADM2 gene.	Information processing speed	Up to 30,807 European ancestry individuals, up to 1,267 Erasmus Rucphen Family individuals, up to 535 Korkulan individuals, up to 417 Orcadian individuals, up to 311 Vis individuals	Up to 8,436 European ancestry individuals, up to 1,444 African American individuals	2q36.1	PAX3	rs2118666-T	0.46	7E-7	(LDST/DSST - age and sex adjusted)	4.95	[NR] unit decrease	Affymetrix, Illumina [up to 2357391] (imputed)	N
2289	chr2	223353445	223353446	rs17496827	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	2q36.1	SGPP2	rs17496827-C	0.55	7E-6		0.042	[0.024-0.06] unit decrease	Illumina [6150213] (imputed)	N
2290	chr2	223517704	223517705	rs10170846	25781172	Avramopoulos D	2015-03-17	PLoS One	Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.	Schizophrenia (inflammation and infection response interaction)	460 Ashkenazi Jewish schizophrenia cases, 241  Ashkenazi Jewish controls	NA	2q36.1	MOGAT1, FARSB, SGPP2	rs10170846-?		2E-6	(anti-HSV1)			Affymetrix [516638]	N
2293	chr2	223917982	223917983	rs12621643	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	2q36.1	KCNE4	rs12621643-T	0.28	3E-6		1.48	[1.20-1.70]	Affymetrix [307944]	N
2293	chr2	223936737	223936738	rs1440072	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Waist circumference	1,779 Filipino ancestry females	NA	2q36.1	KCNE4	rs1440072-C	0.06	8E-7		3.66	[2.21-5.11] cm increase	Affymetrix [2073674] (imputed)	N
2293	chr2	223936737	223936738	rs1440072	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Body mass index	1,780 Filipino ancestry females	NA	2q36.1	KCNE4	rs1440072-C	0.06	4E-6		0.06	[0.04-0.08] unit increase	Affymetrix [2073674] (imputed)	N
2293	chr2	223937558	223937559	rs960246	22788528	Kong M	2012-07-13	Int J Immunogenet	Genetic associations with C-reactive protein level and white blood cell count in the KARE study.	C-reactive protein and white blood cell count	8,722 individuals	NA	2q36.1	intergenic	rs960246-T	0.013	1E-9	(CRP)	0.219	[NR] mg/dl increase	Affymetrix [1701735] (imputed)	N
2294	chr2	224023295	224023296	rs895767	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	2q36.1	intergenic	rs895767-?	NR	7E-6	(EA)	0.0102	[0.00572-0.01457] unit decrease	Illumina [1530316]	N
2294	chr2	224062444	224062445	rs79351035	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q36.1	NR	rs79351035-?	NR	7E-6	(AA)	0.8247	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2296	chr2	224274621	224274622	rs16864755	20200953	Karasik D	2010-01-29	J Bone Miner Res	Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.	Osteoporosis-related phenotypes	2,073 related female individuals	NA	2q36.1	SCG2	rs16864755-?		4E-6	(Femoral Neck BMD)	0.24	[0.14-0.34] cm3 increase	Affymetrix [433510]	N
2297	chr2	224459682	224459683	rs16864968	22095909	Lange CM	2011-11-16	Hepatology	Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	707 European ancestry cases	NA	2q36.1	SCG2	rs16864968-G	NR	3E-6		0.826	[0.48-1.17] ug/L decrease	NR [NR]	N
2298	chr2	224561328	224561329	rs734556	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	2q36.1	SCG2, AP1S3	rs734556-?	NR	9E-6		0.032	[NR] unit increase	Illumina [522636]	N
2298	chr2	224561328	224561329	rs734556	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	2q36.1	SCG2, AP1S3	rs734556-?	NR	5E-8	(FEV1/FVC < 80%)	0.043	[NR] unit increase	Illumina [522636]	N
2298	chr2	224561328	224561329	rs734556	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	2q36.1	SCG2, AP1S3	rs734556-?	NR	2E-6	(Males only)	0.036	[NR] unit increase	Illumina [522636]	N
2301	chr2	224943684	224943685	rs6740660	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil)	177 Japanese ancestry cases, 952 Japanese ancestry controls	NA	2q36.1	SERPINE2	rs6740660-G	0.894	4E-6	(Allelic model)	3.386	[1.87-6.131]	Illumina [733202]	N
2301	chr2	225047743	225047744	rs2629046	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2q36.1	SERPINE2	rs2629046-T	0.55	8E-12		0.024	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
2304	chr2	225391295	225391296	rs11685299	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q36.2	NR	rs11685299-C	NR	4E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2304	chr2	225391295	225391296	rs11685299	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	2q36.2	CUL3	rs11685299-C	0.674	1E-8		1.0649627	[1.04-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
2305	chr2	225558041	225558042	rs1843834	23967269	Kim JH	2013-08-13	PLoS One	A genome-wide association study of total serum and mite-specific IgEs in asthma patients.	IgE levels in asthmatics (D.p. specific)	329 Korean ancestry D.p.-positive cases, 548 Korean ancestry D.p.-negative cases	NA	2q36.2	DOCK10	rs1843834-A	0.183	4E-6		2.14	[1.54-2.96]	Illumina [442089]	N
2309	chr2	226019277	226019278	rs4674973	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	2q36.2	intergenic	rs4674973-?		4E-6	(PC3)	0.0427	[NR] unit increase	Illumina [4167292] (imputed)	N
2310	chr2	226225622	226225623	rs1473307	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	2q36.3	NYAP2	rs1473307-T	0.5715	3E-7		0.1441	[0.089-0.199] years decrease	NR [NR]	N
2311	chr2	226237909	226237910	rs1517484	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	2q36.3	intergenic	rs1517484-C	NR	5E-7	(earlier onset)			Perlegen [429981]	N
2316	chr2	227000985	227000986	rs6758183	22144915	Fan Q	2011-12-01	PLoS Genet	Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.	Corneal astigmatism	1,231 Chinese ancestry cases, 785 Chinese ancestry controls, 1,018 Malay ancestry cases, 1,220 Malay ancestry controls	825 Indian ancestry cases, 1,314 Indian ancestry controls, 760 Chinese ancestry child cases, 169 Chinese ancestry child controls, 397 Chinese ancestry trios	2q36.3	intergenic	rs6758183-A	NR	3E-6		1.39	[1.21-1.57]	Illumina [460528]	N
2317	chr2	227020652	227020653	rs7578326	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	2q36.3	IRS1	rs7578326-A		5E-20		1.11	[1.08-1.13]	Affymetrix, Illumina [2426886] (imputed)	N
2317	chr2	227068079	227068080	rs2943634	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	2q36.3	IRS1	rs2943634-?		2E-14				Affymetrix, Illumina [~ 2400000] (imputed)	N
2317	chr2	227068079	227068080	rs2943634	17634449	Samani NJ	2007-07-18	N Engl J Med	Genomewide association analysis of coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	875 European ancestry cases, 1,644 European ancestry controls	2q36.3	pseudogene	rs2943634-C	0.65	2E-7		1.21	[1.13-1.30]	Affymetrix [377857]	N
2317	chr2	227087283	227087284	rs2943636	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	2q36.3	IRS1	rs2943636-G		2E-7	(WCadjBMI, men)			Affymetrix, Illumina [2846694] (imputed)	N
2317	chr2	227092801	227092802	rs2176040	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q36.3	LOC646736	rs2176040-A	0.365	6E-6	(EA)	0.014	[0.008-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2317	chr2	227092801	227092802	rs2176040	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q36.3	LOC646736	rs2176040-A	0.365	1E-8	(EA, men)	0.024	[0.016-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2317	chr2	227092801	227092802	rs2176040	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q36.3	LOC646736	rs2176040-A	0.362	1E-6		0.015	[0.0088-0.0206] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2317	chr2	227093584	227093585	rs2943640	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	2q36.3	IRS1	rs2943640-C	0.63	7E-9		1.09	[1.05-1.13]	Affymetrix, Illumina [2500000] (imputed)	N
2317	chr2	227093584	227093585	rs2943640	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	2q36.3	IRS1	rs2943640-C	0.63	4E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
2317	chr2	227093744	227093745	rs2943641	19734900	Rung J	2009-09-06	Nat Genet	Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.	Type 2 diabetes and other traits	679 European ancestry cases, 697 European ancestry controls	5,579 European ancestry cases, 7,096 European ancestry controls	2q36.3	LOC64673, IRS1	rs2943641-C	0.63	9E-12		1.19	[1.13-1.25]	Illumina [392365]	N
2317	chr2	227099179	227099180	rs2943645	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	2q36.3	IRS1	rs2943645-T	0.63	3E-6		0.029	[0.017-0.041] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2317	chr2	227100697	227100698	rs2972146	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	2q36.3	IRS1	rs2972146-G	0.37	3E-15		0.028	[NR] mg/dL decrease	NR [NR] (imputed)	N
2317	chr2	227100697	227100698	rs2972146	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2q36.3	IRS1	rs2972146-G	0.37	2E-17		0.032	[NR] unit increase	NR [NR] (imputed)	N
2317	chr2	227100697	227100698	rs2972146	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	2q36.3	IRS1	rs2972146-C	0.37	2E-8		1.89	[1.15-2.63] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2317	chr2	227100697	227100698	rs2972146	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	2q36.3	IRS1	rs2972146-C	0.37	2E-9		0.46	[0.3-0.62] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2317	chr2	227105920	227105921	rs2943650	21706003	Kilpelainen TO	2011-06-26	Nat Genet	Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.	Adiposity	29,069 European ancestry individuals, 7,557 Indian Asian ancestry individuals	39,576 European ancestry individuals	2q36.3	IRS1	rs2943650-T	0.64	4E-11		0.03	[NR] % decrease	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
2317	chr2	227122215	227122216	rs1515110	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	2q36.3	NR	rs1515110-T	NR	2E-7		0.022	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2318	chr2	227163641	227163642	rs2713536	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	2q36.3	IRS1	rs2713536-C	0.38	3E-10		0.038	[0.026-0.05] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
2318	chr2	227179629	227179630	rs925735	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	2q36.3	IRS1	rs925735-G	0.64	2E-8		0.02	[0.012-0.028] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2321	chr2	227562138	227562139	rs7558386	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal P-tau181p levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	2q36.3	intergenic	rs7558386-G	NR	1E-7	(MCI)			Illumina [498205]	N
2321	chr2	227586605	227586606	rs11683087	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	2q36.3	LOC646736, IRS1	rs11683087-?		7E-7	(M)	20.54	[12.95-28.13] unit increase	Illumina [693128]	N
2322	chr2	227773465	227773466	rs3820928	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	2q36.3	RHBDD1	rs3820928-?	NR	5E-6	(ppFEV1)			Affymetrix [70897]	N
2323	chr2	227890282	227890283	rs2177596	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q36.3	COL4A4	rs2177596-T	0.438	5E-6		0.017	[0.0094-0.0236] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2323	chr2	227890282	227890283	rs2177596	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q36.3	COL4A4	rs2177596-T	0.437	6E-6	(EA)	0.017	[0.0095-0.0241] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2323	chr2	227915923	227915924	rs2272205	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	2q36.3	COL4A4	rs2272205-G		3E-9	(AA)			Illumina [NR]	N
2325	chr2	228092034	228092035	rs35212277	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	2q36.3	BC035052, AK056332, COL4A3	rs35212277-A		9E-6		0.2664	unit increase	Illumina [5767231] (imputed)	N
2325	chr2	228135179	228135180	rs7606754	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	2q36.3	COL4A3	rs7606754-A	0.35	1E-9		0.07	[0.05-0.09] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
2327	chr2	228397565	228397566	rs6731443	23984888	Himes BE	2013-08-28	BMC Med Genet	ITGB5 and AGFG1 variants are associated with severity of airway responsiveness.	Airway hyperresponsiveness	994 European ancestry asthma cases	650 European ancestry asthma cases, 3,354 European ancestry chronic obstructive pulmonary disease cases	2q36.3	ITGB5, AGFG1	rs6731443-G	0.36	2E-6		0.022	[NR] unit decrease	Affymetrix [2154322] (imputed)	N
2328	chr2	228481418	228481419	rs11889798	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted TNF-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	2q36.3	C2orf83, LOC729968	rs11889798-A		4E-7	(EA)			Illumina [NR]	N
2328	chr2	228509457	228509458	rs997363	24700089	Miura K	2014-04-04	J Med Virol	Genome-wide association study of HPV-associated cervical cancer in Japanese women.	Cervical cancer	226 Japanese ancestry cases, 186 Japanese ancestry controls	NA	2q36.3	intergenic	rs997363-C	0.4032	1E-6		1.986	[1.50-2.62]	Affymetrix [556045]	N
2328	chr2	228584897	228584898	rs11691652	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q36.3	SLC19A3	rs11691652-C	0.189	8E-6	(Cortisol )	0.03	[NR] ng/mL increase	Illumina [899892]	N
2329	chr2	228660111	228660112	rs111781203	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q36.3	CCL20	rs111781203-A	0.66	3E-8	(EA)	1.0756639		Affymetrix, Illumina [~ 9000000] (imputed)	N
2329	chr2	228660111	228660112	rs111781203	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q36.3	CCL20	rs111781203-A	0.66	2E-10	(EA)	1.0683979		Affymetrix, Illumina [~ 9000000] (imputed)	N
2329	chr2	228660111	228660112	rs111781203	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q36.3	CCL20	rs111781203-G	0.66	6E-6	(EA)	1.0588406		Affymetrix, Illumina [~ 9000000] (imputed)	N
2329	chr2	228670574	228670575	rs10175070	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	2q36.3	CCL20, SPHKAP	rs10175070-A	0.75	2E-6		0.124	[0.073-0.175] unit increase	Illumina [6150213] (imputed)	N
2329	chr2	228715374	228715375	rs7591163	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Blood pressure	Up to 1,327 individuals	NA	2q36.3	CCL20, WDR69	rs7591163-?	NR	3E-7	(DBPLTA)			Affymetrix [70897]	N
2332	chr2	228994781	228994782	rs7577463	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q36.3	NR	rs7577463-G	NR	5E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2334	chr2	229320092	229320093	rs7601312	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q36.3	NR	rs7601312-G	NR	4E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2336	chr2	229510928	229510929	rs1435867	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	2q36.3	PID1	rs1435867-?	NR	2E-9	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
2337	chr2	229642421	229642422	rs11679180	24096698	De Vivo I	2013-10-06	Hum Genet	Genome-wide association study of endometrial cancer in E2C2.	Endometrial cancer	up to 2,695 European ancestry cases, up to 2,777 European ancestry controls	up to 3,235 cases, up to 12,059 controls	2q36.3	intergenic	rs11679180-?	NR	3E-6	(European, All type I)			Illumina [873935]	N
2337	chr2	229726205	229726206	rs12996281	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q36.3	NR	rs12996281-?	NR	1E-6	(Japanese)	0.5723	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2339	chr2	229940634	229940635	rs1860762	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (total eye scanning length)	128 Han Chinese ancestry cases	NA	2q36.3	NR	rs1860762-?		5E-6		78.5	[40.32-116.68] unit decrease	Illumina [498648]	N
2339	chr2	229969797	229969798	rs6436839	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	2q36.3	PID1	rs6436839-?	0.29	3E-6	(quetiapine)			Affymetrix [492900]	N
2341	chr2	230224030	230224031	rs7594321	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	2q36.3	DNER	rs7594321-T	0.35	5E-11	(FEV1/FVC, Pack-years)	2.0E-4	[0.00005-0.00035] unit decrease	NR [~ 2500000] (imputed)	N
2341	chr2	230224030	230224031	rs7594321	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	2q36.3	DNER	rs7594321-T	0.35	3E-9	(FEV1/FVC, Ever-smoking)	0.015	[-0.01048-0.04048] unit decrease	NR [~ 2500000] (imputed)	N
2342	chr2	230349988	230349989	rs11890081	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	2q36.3	NR	rs11890081-C	0.0172129438807299	8E-6	(IGP47)	0.6811	[0.38-0.98] unit increase	Illumina [~ 2500000] (imputed)	N
2343	chr2	230522397	230522398	rs1861612	24101674	Hanson RL	2013-10-07	Diabetes	A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes.	Type 2 diabetes	278 American Indian ancestry young-onset cases, 129 American Indian ancestry cases, 424 American Indian ancestry controls from 514 sibships	1,273 American Indian ancestry cases, 1,635 American Indian ancestry controls, 793 cases, 3,133 controls	2q36.3	DNER	rs1861612-T	0.64	7E-8		1.29	[NR]	Affymetrix [453654]	N
2347	chr2	231035744	231035745	rs13010639	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q37.1	SP110	rs13010639-A	0.085	6E-6	(BMR RQ)	0.04	[NR] unit increase	Illumina [899892]	N
2348	chr2	231091222	231091223	rs13397985	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	2q37.1	SP140, SP110	rs13397985-G	0.19	5E-13		1.43	[NR]	Illumina [450000] (imputed)	N
2348	chr2	231091222	231091223	rs13397985	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	2q37.1	SP140	rs13397985-G	0.18	1E-22		1.45	[NR]	Illumina [549934]	N
2348	chr2	231091222	231091223	rs13397985	22700719	Slager SL	2012-06-13	Blood	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,121 European ancestry cases, 3,745 European ancestry controls	861 European ancestry cases, 2,033 European ancestry controls	2q37.1	NR	rs13397985-?	0.81	2E-7		1.39	[1.23-1.59]	Affymetrix, Illumina [~ 1500000] (imputed)	N
2348	chr2	231091222	231091223	rs13397985	18758461	Di Bernardo MC	2008-08-31	Nat Genet	A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	505 European ancestry cases, 1,438 European ancestry controls	1,024 European ancestry cases, 1,677 European ancestry controls	2q37.1	SP140, SP110	rs13397985-G	0.19	6E-10		1.41	[1.26-1.57]	Illumina [345665]	N
2348	chr2	231097128	231097129	rs6716753	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q37.1	NR	rs6716753-G	0.1896	1E-10	(EA)	1.0847341	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2348	chr2	231097128	231097129	rs6716753	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	2q37.1	SP140	rs6716753-C	0.196	1E-16		1.134	[1.089-1.18]	Affymetrix, Illumina [1230000] (imputed)	N
2348	chr2	231106723	231106724	rs10201872	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	2q37.1	SP140	rs10201872-A	NR	2E-10		1.14	[1.12-1.16]	Illumina [465434]	N
2348	chr2	231115453	231115454	rs9989735	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q37.1	NR	rs9989735-?	NR	2E-18	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
2348	chr2	231116873	231116874	rs7423615	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	2q37.1	SP140	rs7423615-T	0.187	3E-13		1.12	[1.07-1.18]	Affymetrix, Illumina [953241] (imputed)	N
2349	chr2	231230170	231230171	rs6712333	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Nicotine use	7,188 European ancestry individuals	NA	2q37.1	SP140L	rs6712333-A	0.119	5E-6		8.322	[NR] unit increase	Illumina [527829]	N
2350	chr2	231420400	231420401	rs17275498	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	2q37.1	AC010149.4	rs17275498-?	NR	8E-6	(COWA)			Illumina [up to 563855]	N
2355	chr2	232126289	232126290	rs9677476	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	2q37.1	ARMC9	rs9677476-G	0.274	1E-6	(BSA-a)	0.21	[NR] unit increase	Illumina [944565] (imputed)	N
2356	chr2	232159211	232159212	rs745962	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Hormone measurements	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	2q37.1	NR	rs745962-T	0.18	7E-6	(Oestradiol)			Illumina [709211]	N
2356	chr2	232176540	232176541	rs7580717	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	2q37.1	NR	rs7580717-G		5E-6		1.131	[NR]	Illumina [414804]	N
2356	chr2	232192304	232192305	rs1669070	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	2q37.1	HTR2B, NMUR1	rs1669070-T	0.4	4E-6	(EA-glucose response)	3.02	[1.73-4.31] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
2357	chr2	232271283	232271284	rs13030174	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	2q37.1	B3GNT7	rs13030174-A	0.733	1E-10		0.3	[0.20-0.40] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
2357	chr2	232291470	232291471	rs4973397	25387707	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of antisaccade eye tracking error rate: A genome-wide association study.	Anti-saccade response	4,469 European ancestry twins and their parents	NA	2q37.1	B3GNT7	rs4973397-?	NR	6E-8		0.031	[0.019-0.043] unit increase	Illumina [527829]	N
2357	chr2	232298075	232298076	rs12475512	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	2q37.1	PDE6D, PTMA, NCL	rs12475512-G	0.543	7E-7		0.108	[0.065-0.151] unit increase	Illumina [6150213] (imputed)	N
2357	chr2	232318753	232318754	rs16828074	23728934	Yang L	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.	Attention deficit hyperactivity disorder	1,040 Han Chinese ancestry cases, 963 Han Chinese ancestry controls	NA	2q37.1	NCL	rs16828074-?	NR	6E-9				Affymetrix [656051]	N
2357	chr2	232321955	232321956	rs7598759	26121033	Grondin Y	2015-06-29	PLoS One	Genetic Polymorphisms Associated with Hearing Threshold Shift in Subjects during First Encounter with Occupational Impulse Noise.	Noise-induced hearing loss	19 European and Mexican ancestry exposed individuals with hearing loss, 22 European and Mexican ancestry exposed individuals without hearing loss	NA	2q37.1	NCL	rs7598759-?	NR	5E-7		12.75	[NR]	Affymetrix [289036]	N
2357	chr2	232378230	232378231	rs6750795	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	2q37.1	C2orf52	rs6750795-T	0.44	2E-8		1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
2360	chr2	232743802	232743803	rs6714205	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q37.1	NR	rs6714205-?	NR	2E-7	(AA)	0.3626	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2361	chr2	232796609	232796610	rs749052	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2q37.1	NPPC	rs749052-T	0.938	2E-26		0.067	[0.055-0.079] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2361	chr2	232796609	232796610	rs749052	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	2q37.1	DIS3L2, NPPC, COPS7B, PDE6D, PTMA	rs749052-A	0.94	1E-6		8.7	[5.17-12.23] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
2361	chr2	232797965	232797966	rs2580816	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2q37.1	NPPC	rs2580816-T	0.19	6E-22		0.045	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
2361	chr2	232815340	232815341	rs10460436	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2q37.1	NPPC	rs10460436-A	0.51	8E-39		0.062	[0.05-0.074] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
2362	chr2	232982256	232982257	rs11677466	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2q37.1	DIS3L2	rs11677466-A	0.914	3E-23		0.064	[0.05-0.078] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2362	chr2	232988581	232988582	rs3103267	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	2q37.1	DIS3L2	rs3103267-C	0.72	3E-8		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
2363	chr2	233053960	233053961	rs6728302	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	2q37.1	DIS3L2	rs6728302-A	0.48	8E-44		0.064	[0.052-0.076] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
2363	chr2	233077063	233077064	rs7571816	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	2q37.1	DIS3L2	rs7571816-A	0.45	9E-9		0.06	[0.04-0.08] cm increase	Illumina [420885]	N
2363	chr2	233155109	233155110	rs6717918	19570815	Estrada K	2009-07-01	Hum Mol Genet	A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.	Height	10,074 European ancestry individuals	6,912 European ancestry individuals	2q37.1	DIS3L2, ALPP, NPPC	rs6717918-T	0.78	3E-9		0.44	[0.20-0.68] cm increase	Affymetrix, Illumina, Perlegen [2228850] (imputed)	N
2365	chr2	233379940	233379941	rs1656404	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	2q37.1	PRSS56	rs1656404-A	0.21	8E-11		0.153	[0.11-0.20] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
2365	chr2	233406997	233406998	rs1881492	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	2q37.1	PRSS56, CHRNG	rs1881492-T	0.22	5E-11		0.139	[0.098-0.18] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
2365	chr2	233426525	233426526	rs1656402	21079520	Sato Y	2010-11-12	J Thorac Oncol	Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel.	Non-small cell lung cancer (survival)	105 East Asian ancestry cases	NA	2q37.1	EIF4E2	rs1656402-?	NR	8E-8		2.38	[1.49-3.85] (AG)	Illumina [109365]	N
2366	chr2	233442090	233442091	rs13393800	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2q37.1	EIF4E2	rs13393800-A	0.295	1E-17		0.027	[0.021-0.033] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2366	chr2	233513174	233513175	rs2140773	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	2q37.1	EFHD1, LOC100129166	rs2140773-A	0.61	1E-9		2.9	[2.30-3.50] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
2366	chr2	233553566	233553567	rs1108252	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q37.1	NR	rs1108252-T	NR	3E-7		1.08	[NR]	Illumina [7158791] (imputed)	N
2366	chr2	233554195	233554196	rs116212486	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q37.1	intergenic	rs116212486-A	0.028	2E-6		3.92	[2.13-7.21]	Illumina [1556551]	N
2367	chr2	233592500	233592501	rs6704768	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	2q37.1	C2orf82, EFHD1, GIGYF2, KCNJ13, NGEF	rs6704768-G	0.448	2E-12		1.0752687	[1.05-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
2368	chr2	233736243	233736244	rs2675968	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	2q37.1	NR	rs2675968-T	NR	5E-6	(5 degree of freedom test)	1.016	[0.99-1.04]	NR [1252901] (imputed)	N
2368	chr2	233743108	233743109	rs778371	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	2q37.1	NR	rs778371-G	NR	2E-12		1.0869565	[NR]	Illumina [7158791] (imputed)	N
2368	chr2	233743108	233743109	rs778371	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	2q37.1	GIGYF2, KCNJ13, C2orf82, NGEF	rs778371-G	0.281	2E-8		1.09	[1.06-1.12]	Affymetrix, Illumina [9871789]	N
2369	chr2	233896497	233896498	rs2233375	24152035	Goodbourn PT	2013-10-23	Genes Brain Behav	Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.	Contrast sensitivity	985 European ancestry individuals	NA	2q37.1	NEU2, INPP5D, NGEF	rs2233375-?	0.0992	4E-6		3.63	[NR] unit increase	Illumina [642758]	N
2370	chr2	233998480	233998481	rs10933436	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	2q37.1	intergenic	rs10933436-A	0.49	7E-6		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2370	chr2	234068475	234068476	rs35349669	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	2q37.1	INPP5D	rs35349669-T	0.488	3E-8		1.08	[1.05-1.11]	Illumina [7055881] (imputed)	N
2371	chr2	234158838	234158839	rs10210302	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	2q37.1	ATG16L1	rs10210302-T	0.48	5E-14		1.19	[1.01-1.41]	Affymetrix [469557]	N
2371	chr2	234161582	234161583	rs6738490	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q37.1	NR	rs6738490-?	NR	4E-78	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
2371	chr2	234173502	234173503	rs12994997	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q37.1	NR	rs12994997-A	0.53	3E-41	(EA)	1.1429542		Affymetrix, Illumina [~ 9000000] (imputed)	N
2371	chr2	234173502	234173503	rs12994997	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	2q37.1	INPP5D, ATG16L1	rs12994997-A	0.523	4E-70		1.233	[1.193-1.274]	Affymetrix, Illumina [1230000] (imputed)	N
2371	chr2	234180409	234180410	rs3828309	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	2q37.1	ATG16L1	rs3828309-G	0.53	2E-32		1.25	[NR]	Affymetrix, Illumina [635547] (imputed)	N
2371	chr2	234183367	234183368	rs2241880	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	2q37.1	SAG, DGKD, INPP5D, USP40, ATG16L1	rs2241880-G	0.601	1E-12		1.32	[1.24-1.41]	Affymetrix, Illumina [1060934] (imputed)	N
2371	chr2	234183367	234183368	rs2241880	20570966	McGovern DP	2010-06-22	Hum Mol Genet	Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.	Crohn's disease	896 European ancestry cases, 3,204 European ancestry controls	1,174 European ancestry cases, 357 European ancestry controls	2q37.1	ATG16L1	rs2241880-?	NR	3E-6		1.32	[1.18-1.47]	Illumina [304825]	N
2371	chr2	234183367	234183368	rs2241880	17435756	Rioux JD	2007-04-15	Nat Genet	Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.	Crohn's disease	946 cases, 977 controls	530 trios, 353 cases, 207 controls	2q37.1	ATG16L1	rs2241880-G	0.55	1E-13		1.45	[1.27-1.64]	Illumina [304413]	N
2371	chr2	234184416	234184417	rs3792109	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	2q37.1	ATG16L1	rs3792109-A	NR	5E-9		1.38	[NR]	Illumina [508934]	N
2371	chr2	234184416	234184417	rs3792109	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	2q37.1	ATG16L1	rs3792109-A	0.529	7E-41		1.34	[1.29-1.40]	Affymetrix, Illumina [953241] (imputed)	N
2372	chr2	234264847	234264848	rs1550532	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	2q37.1	DGKD	rs1550532-C	0.31	8E-11		0.018	[0.012-0.024] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
2372	chr2	234264847	234264848	rs1550532	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	2q37.1	DGKD	rs1550532-?	0.317	3E-19		0.044	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
2372	chr2	234273241	234273242	rs838705	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	2q37.1	SAG, DGKD	rs838705-A	NR	9E-6		0.02	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2373	chr2	234406654	234406655	rs6704644	21646302	Bielinski SJ	2011-06-06	Mayo Clin Proc	Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.	Bilirubin levels	6,307 European ancestry individuals	NA	2q37.1	USP40	rs6704644-?	0.11	8E-8		0.076	[0.05-0.11] mg/dL increase	Illumina [583129]	N
2374	chr2	234502120	234502121	rs13394720	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	2q37.1	intergenic	rs13394720-?	NR	5E-7	(progression)			Illumina [NR]	N
2374	chr2	234508962	234508963	rs2741012	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	UGT1A, UGT1A12P, UGT1A11P	rs2741012-?	0.2139	2E-9		0.07022795	[NR] unit increase	Illumina [5954294] (imputed)	N
2374	chr2	234565282	234565283	rs11892031	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	2q37.1	UGT1A	rs11892031-A	0.92	1E-7		1.17	[1.11-1.25]	Illumina [462190]	N
2374	chr2	234565282	234565283	rs11892031	20972438	Rothman N	2010-10-24	Nat Genet	A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.	Bladder cancer	3,532 European ancestry cases, 5,120 European ancestry controls	8,381 cases, 48,275 controls	2q37.1	UGT1A	rs11892031-?	0.92	1E-7		1.19	[1.12-1.27]	Illumina [589299]	N
2374	chr2	234584323	234584324	rs2602381	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	2q37.1	UGT1A9	rs2602381-A	0.48	4E-6		1.42	[NR]	Illumina [835136]	N
2374	chr2	234597320	234597321	rs10173355	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	UGT1A10, UGT1A7, UGT1A8, UGT1A, UGT1A9, UGT1A13P, UGT1	rs10173355-?	0.2675	5E-16		0.088006854	[NR] unit increase	Illumina [5954294] (imputed)	N
2374	chr2	234611093	234611094	rs17863787	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	UGT1A7, UGT1A9, UGT1A, UGT1A6, UGT1A8, UGT1A10, UGT1A13P, UGT1, UGT1A5	rs17863787-?	0.2873	1E-22		0.1023267	[NR] unit increase	Illumina [5954294] (imputed)	N
2375	chr2	234625621	234625622	rs1875263	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	UGT1A, UGT1A6, UGT1A5, UGT1A10, UGT1A8, UGT1A7, UGT1A13P, UGT1, UGT1A4, UGT1A9	rs1875263-?	0.4337	7E-12		0.06651771	[NR] unit increase	Illumina [5954294] (imputed)	N
2375	chr2	234639309	234639310	rs11891311	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	2q37.1	UGT1A1	rs11891311-?	0.12	1E-41	(Direct bilirubin)	0.142	[0.12-0.16] unit increase	Affymetrix [658288] (imputed)	N
2375	chr2	234643736	234643737	rs4477910	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	UGT1A9, UGT1A5, UGT1A4, UGT1A6, UGT1A, UGT1A8, UGT1A10, UGT1A7, UGT1A3, RPL17P11, RPL1, DNAJB3	rs4477910-?	0.4787	5E-16		0.07985459	[NR] unit increase	Illumina [5954294] (imputed)	N
2375	chr2	234655312	234655313	rs4663969	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	UGT1A10, UGT1A, UGT1A7, UGT1A8, UGT1A4, UGT1A5, UGT1A6, UGT1A3, UGT1A9, DNAJB3, UGT1A2P	rs4663969-?	0.4651	4E-16		0.07697108	[NR] unit increase	Illumina [5954294] (imputed)	N
2375	chr2	234667581	234667582	rs3755319	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	UGT1A10, UGT1A5, UGT1A7, UGT1A4, UGT1A3, UGT1A8, UGT1A, UGT1A9, UGT1A6, LOC100286922, UGT1A1	rs3755319-?	0.4532	9E-20		0.08879298	[NR] unit decrease	Illumina [5954294] (imputed)	N
2375	chr2	234668569	234668570	rs887829	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	UGT1A7, UGT1A6, UGT1A4, UGT1A, UGT1A9, UGT1A5, UGT1A3, UGT1A10, UGT1A8, UGT, LOC100286922, UGT1A1	rs887829-T	0.3656	7E-31		0.11449965	[NR] unit increase	Illumina [5954294] (imputed)	N
2375	chr2	234668569	234668570	rs887829	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q37.1	UGT1A1	rs887829-T	0.34	3E-168	(biliverdin)	0.113	[0.11-0.12] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2375	chr2	234668569	234668570	rs887829	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q37.1	UGT1A1	rs887829-T	0.33	4E-95	(bilirubin (E,E))	0.128	[0.12-0.14] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2375	chr2	234668569	234668570	rs887829	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q37.1	UGT1A1	rs887829-T	0.33	3E-114	(X-11793--oxidized bilirubin)	0.093	[0.085-0.101] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2375	chr2	234668569	234668570	rs887829	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q37.1	UGT1A1	rs887829-T	0.33	2E-152	(bilirubin (Z,Z))	0.168	[0.16-0.18] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2375	chr2	234668569	234668570	rs887829	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q37.1	UGT1A1	rs887829-T	0.33	2E-140	(X-11530)	0.112	[0.1-0.12] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2375	chr2	234668569	234668570	rs887829	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q37.1	UGT1A1	rs887829-T	0.32	2E-56	(bilirubin (E,Z or Z,E))	0.081	[0.071-0.091] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2375	chr2	234668569	234668570	rs887829	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	2q37.1	UGT1A	rs887829-T	0.44	8E-23	(Biliverdin)	0.32	[NR] unit increase	Affymetrix [2341704] (imputed)	N
2375	chr2	234668569	234668570	rs887829	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	2q37.1	UGT1A	rs887829-T	0.44	6E-13	(Bilirubin (Z,Z))	0.34	[NR] unit increase	Affymetrix [2341704] (imputed)	N
2375	chr2	234668569	234668570	rs887829	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	2q37.1	UGT1A	rs887829-T	0.44	1E-17	(Bilirubin (E,E))	0.32	[NR] unit increase	Affymetrix [2341704] (imputed)	N
2375	chr2	234668569	234668570	rs887829	23642732	Cox AJ	2013-04-19	Atherosclerosis	Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study.	Bilirubin levels	1,180 European ancestry individuals from ~475 families		2q37.1	UGT1A	rs887829-T	0.312	9E-20				Affymetrix, Illumina [371951]	N
2375	chr2	234668569	234668570	rs887829	23281178	Hong MG	2013-03-01	Hum Mutat	A genome-wide assessment of variability in human serum metabolism.	Metabolite levels	214 European ancestry prostate cancer cases, 188 European ancestry controls	489 European ancestry prostate cancer cases	2q37.1	UGT1A8	rs887829-T	NR	9E-25	(Bilirubin)			Affymetrix [333722]	N
2375	chr2	234668569	234668570	rs887829	22558097	Milton JN	2012-04-27	PLoS One	A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.	Cholelithiasis-related traits in sickle cell anemia	905 African American cases	2,152 African American cases	2q37.1	UGT1A1, UGT1A10	rs887829-A	0.45	5E-25		0.19	[NR] unit increase	Illumina [569615]	N
2375	chr2	234668569	234668570	rs887829	22085899	Chen G	2011-11-16	Eur J Hum Genet	UGT1A1 is a major locus influencing bilirubin levels in African Americans.	Bilirubin levels	619 African American individuals	NA	2q37.1	UGT1A1	rs887829-T	0.45	2E-22		0.226	[0.183-0.270] unit increase	Affymetrix [808465]	N
2375	chr2	234668569	234668570	rs887829	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	2q37.1	UGT1A	rs887829-T	0.337	3E-74	(SM-4 + 74 other traits)	0.293	[NR] unit increase	Affymetrix, Illumina [534665]	N
2375	chr2	234668569	234668570	rs887829	19419973	Sanna S	2009-05-06	Hum Mol Genet	Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.	Bilirubin levels	4,300 Sardinian individuals	1,860 Sardinian individuals, 832 Old Order Amish individuals	2q37.1	UGT1A1	rs887829-T	0.30	1E-69		0.57	[0.50-0.63] s.d. decrease	Affymetrix [362129]	N
2375	chr2	234669143	234669144	rs4148323	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	2q37.1	UGT1A1	rs4148323-?	0.20	7E-30	(Direct bilirubin)	0.09	[0.074-0.106] unit increase	Affymetrix [658288] (imputed)	N
2375	chr2	234669143	234669144	rs4148323	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	2q37.1	UGT1A1	rs4148323-?	0.20	5E-69	(Total bilirubin)	0.109	[0.097-0.121] unit increase	Affymetrix [658288] (imputed)	N
2375	chr2	234669143	234669144	rs4148323	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	2q37.1	UGT1A1	rs4148323-?	0.20	2E-62	(Indirect bilirubin)	0.121	[0.11-0.13] unit increase	Affymetrix [658288] (imputed)	N
2375	chr2	234669143	234669144	rs4148323	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	2q37.1	UGT1A1	rs4148323-?	0.189	3E-139	Conditional on rs11891311	0.14	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
2375	chr2	234672638	234672639	rs6742078	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	2q37.1	UGT1A1	rs6742078-?	0.12	6E-40	(Direct bilirubin)	0.133	[0.11-0.15] unit increase	Affymetrix [658288] (imputed)	N
2375	chr2	234672638	234672639	rs6742078	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	2q37.1	UGT1A1	rs6742078-?	0.12	2E-78	(Indirect bilirubin)	0.166	[0.15-0.18] unit increase	Affymetrix [658288] (imputed)	N
2375	chr2	234672638	234672639	rs6742078	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	2q37.1	UGT1A1	rs6742078-?	0.12	1E-89	(Total bilirubin)	0.153	[0.14-0.17] unit increase	Affymetrix [658288] (imputed)	N
2375	chr2	234672638	234672639	rs6742078	22511988	Jylhava J	2012-04-12	PLoS One	A genome-wide association study identifies UGT1A1 as a regulator of serum cell-free DNA in young adults: The Cardiovascular Risk in Young Finns Study.	Circulating cell-free DNA	1,841 individuals	NA	2q37.1	UGT1A1	rs6742078-T	0.60	2E-23		0.3358	[0.27-0.40] ug/ml increase	Illumina [2543887] (imputed)	N
2375	chr2	234672638	234672639	rs6742078	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	2q37.1	UGT1A1	rs6742078-?	0.122	1E-158		0.181	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
2375	chr2	234672638	234672639	rs6742078	19414484	Johnson AD	2009-05-04	Hum Mol Genet	Genome-wide association meta-analysis for total serum bilirubin levels.	Bilirubin levels	9,464 individuals	NA	2q37.1	UGT1A1	rs6742078-T	0.32	5E-324		0.23	[0.21-0.25] umol/l increase in log(tbil)	Affymetrix, Illumina [2555103] (imputed)	N
2375	chr2	234672721	234672722	rs4148324	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q37.1	UGT1A1	rs4148324-T	0.67	5E-117	(X-11442)	0.109	[0.099-0.119] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2375	chr2	234672721	234672722	rs4148324	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q37.1	UGT1A1	rs4148324-T	0.67	2E-116	(X-11441)	0.109	[0.099-0.119] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2375	chr2	234674475	234674476	rs929596	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	UGT1A5, UGT1A6, UGT1A, UGT1A10, UGT1A3, UGT1A7, UGT1A9, UGT1A4, UGT1A1, UGT1A8, LOC100286922, MROH2A	rs929596-?	0.3215	3E-24		0.10258645	[NR] unit increase	Illumina [5954294] (imputed)	N
2375	chr2	234679383	234679384	rs11563251	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	2q37.1	UGT1A1	rs11563251-T	0.12	5E-8		0.034	[NR] unit increase	NR [NR] (imputed)	N
2375	chr2	234679383	234679384	rs11563251	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	2q37.1	UGT1A1	rs11563251-T	0.12	1E-9		0.037	[NR] unit increase	NR [NR] (imputed)	N
2375	chr2	234698789	234698790	rs2361502	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	Total bilirubin levels in HIV-1 infection	2,547 individuals	NA	2q37.1	MROH2A, UGT1A9, HJURP	rs2361502-?	0.3076	3E-6		0.048421808	[NR] unit increase	Illumina [5954294] (imputed)	N
2375	chr2	234698789	234698790	rs2361502	21646302	Bielinski SJ	2011-06-06	Mayo Clin Proc	Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.	Bilirubin levels	6,307 European ancestry individuals	NA	2q37.1	LOC339766	rs2361502-?	0.29	7E-23		0.098	[0.08-0.12] mg/dL increase	Illumina [583129]	N
2376	chr2	234814058	234814059	rs10187654	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	2q37.1	intergenic	rs10187654-?	NR	9E-6	(FEV1/FVC decline in non-asthmatics)	0.1506	[0.084-0.217] unit increase	Illumina [~ 2500000] (imputed)	N
2376	chr2	234818868	234818869	rs7577262	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (cold pressor test)	1,881 Han Chinese ancestry individuals	698 Han Chinese ancestry individuals	2q37.1	TRPM8	rs7577262-A	0.37	7E-7	(MAP, Time 0)	1.0	[0.61-1.39] mmHg decrease	Affymetrix [2216774] (imputed)	N
2376	chr2	234818868	234818869	rs7577262	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (cold pressor test)	1,881 Han Chinese ancestry individuals	698 Han Chinese ancestry individuals	2q37.1	TRPM8	rs7577262-A	0.37	3E-8	(SBP, Time 0)	1.71	[1.1-2.32] mmHg decrease	Affymetrix [2216774] (imputed)	N
2376	chr2	234825092	234825093	rs10166942	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	2q37.1	TRPM8	rs10166942-?	0.82	1E-12		1.28	[1.19-1.37]	Illumina [1246388] (imputed)	N
2376	chr2	234825092	234825093	rs10166942	21666692	Chasman DI	2011-06-12	Nat Genet	Genome-wide association study reveals three susceptibility loci for common migraine in the general population.	Migraine	5,122 European ancestry cases, 18,108 European ancestry controls	3,831 European ancestry cases, 13,889 European ancestry controls	2q37.1	TRPM8	rs10166942-T	0.81	6E-12		1.18	[1.12-1.22]	Affymetrix, Illumina [2608509] (imputed)	N
2376	chr2	234827660	234827661	rs6741751	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	2q37.1	TRPM8	rs6741751-?	0.9	9E-11		1.25	[1.16-1.33]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2376	chr2	234827660	234827661	rs6741751	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	2q37.1	TRPM8	rs6741751-?	0.9	1E-7		1.23	[1.14-1.33]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2376	chr2	234827660	234827661	rs6741751	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	2q37.1	TRPM8	rs6741751-?	0.9	1E-8		1.27	[1.16-1.37]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2376	chr2	234827660	234827661	rs6741751	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	2q37.1	TRPM8	rs6741751-?	0.9	9E-14		1.15	[1.11-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
2376	chr2	234852691	234852692	rs12472151	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Alcohol consumption	7,188 European ancestry individuals	NA	2q37.1	NR	rs12472151-A	0.048	2E-6		8.0	[NR] unit increase	Illumina [527829]	N
2377	chr2	234928516	234928517	rs1987842	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	2q37.1	TRPM8	rs1987842-?		4E-6				Illumina [859311]	N
2379	chr2	235210726	235210727	rs12151790	20548944	Hsu YH	2010-06-10	PLoS Genet	An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.	Osteoporosis-related phenotypes	2,038 European ancestry female individuals, 1,531 European ancestry male individuals	5,595 European ancestry female individuals, 2,126 European ancestry male individuals	2q37.1	SPP2	rs12151790-A	0.40	5E-7	(FN BMD, women)	0.4	[NR] g/cm2 increase	Affymetrix [433510]	N
2380	chr2	235302809	235302810	rs11887188	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	2q37.1	ARL4C	rs11887188-T	0.03	2E-8	(DBP, during intervention)	3.28	[2.14-4.42] mmHg decrease	Affymetrix [2216774] (imputed)	N
2380	chr2	235302809	235302810	rs11887188	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	2q37.1	ARL4C	rs11887188-T	0.03	1E-6	(MAP, during intervention)	2.98	[1.76-4.20] mmHg decrease	Affymetrix [2216774] (imputed)	N
2382	chr2	235601063	235601064	rs4663476	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	2q37.1	AC010148.1	rs4663476-G	NR	8E-6	(AA)	1.23	[0.66-1.80] unit decrease	Affymetrix [~ 2300000] (imputed)	N
2382	chr2	235615196	235615197	rs6736997	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	2q37.2	ARL4C	rs6736997-A	0.33	6E-6	(recessive)	1.57	[1.29-1.91]	Illumina [420236]	N
2384	chr2	235900170	235900171	rs11676855	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	2q37.2	SH3BP4	rs11676855-?	0.67	9E-6		1.43	[1.22-1.67]	Affymetrix [832357]	N
2385	chr2	235960892	235960893	rs10174126	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	2q37.2	SH3BP4	rs10174126-?	0.43	7E-7	(CP)	1.59	[1.32-1.92]	Illumina [NR]	N
2386	chr2	236128950	236128951	rs1991705	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q37.2	LOC642692	rs1991705-A	0.175	7E-6	(Total glutathione )	0.03	[NR] umol/L increase	Illumina [899892]	N
2389	chr2	236539306	236539307	rs6431393	23667675	Tanikawa C	2013-05-07	PLoS One	Genome wide association study of age at menarche in the Japanese population.	Menarche (age at onset)	15,495 Japanese ancestry females	NA	2q37.2	AGAP1	rs6431393-A	0.4948	4E-6		0.0776	[0.045-0.111] year increase	Illumina [2310762] (imputed)	N
2391	chr2	236795342	236795343	rs13025591	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	2q37.2	CENTG2	rs13025591-?	NR	8E-8		1.11	[NR]	Affymetrix [745006]	N
2391	chr2	236795342	236795343	rs13025591	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	2q37.2	NR	rs13025591-?	NR	6E-6		1.07	[1.04-1.11]	Affymetrix, Illumina [1252901] (imputed)	N
2393	chr2	237058143	237058144	rs11687170	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 126,559 European ancestry individuals	NA	2q37.2	GBX2	rs11687170-T	0.770	3E-8	(Edu Years)	0.107	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 23218963] (imputed)	N
2393	chr2	237105517	237105518	rs13401104	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	2q37.2	intergenic	rs13401104-A	0.176	3E-8		0.032	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2393	chr2	237105517	237105518	rs13401104	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 126,559 European ancestry individuals	NA	2q37.2	LOC100128572	rs13401104-?	0.82	5E-9	(College)	1.1	[NR]	Affymetrix, Illumina, Perlegen [up to 23218963] (imputed)	N
2394	chr2	237156548	237156549	rs13390159	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	2q37.2	ASB18, LOC728087, IQCA	rs13390159-A	0.16	2E-7	(LDL, diff)			Illumina [~ 2500000] (imputed)	N
2397	chr2	237509206	237509207	rs896543	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	2q37.3	NR	rs896543-G	0.81	1E-6		1.54	[1.36-1.72]	Illumina [4058415] (imputed)	N
2397	chr2	237521841	237521842	rs7607316	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	2q37.3	CXCR7	rs7607316-A	0.21	3E-6	(Never smoker)	1.29	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
2399	chr2	237805686	237805687	rs7599706	26025128	Park HW	2015-05-27	J Allergy Clin Immunol	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.	Bone mineral accretion in asthma (oral corticosteroid dose interaction)	489 European ancestry children	NA	2q37.3	intergenic	rs7599706-?		4E-8				Illumina [NR]	N
2400	chr2	237905330	237905331	rs11677911	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	2q37.3	COPS8	rs11677911-T	0.247	8E-6		0.015	[0.0085-0.0219] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2400	chr2	237933965	237933966	rs2318131	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	2q37.3	COPS8	rs2318131-C	0.343	3E-12		0.038	[0.027-0.049] unit increase	Illumina [7428049] (imputed)	N
2402	chr2	238270893	238270894	rs10202497	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to event)	16,995 European ancestry individuals	NA	2q37.3	COL6A3	rs10202497-C	0.86	8E-6		1.12	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
2403	chr2	238387227	238387228	rs7584330	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	2q37.3	intergenic	rs7584330-C	0.22	3E-9		1.06	[1.02-1.09]	NR [2600000] (imputed)	N
2404	chr2	238443225	238443226	rs2292884	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	2q37.3	MLPH	rs2292884-G	0.25	4E-8		1.14	[1.09-1.19]	Illumina [571243]	N
2404	chr2	238499443	238499444	rs2292873	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q37.3	RAB17	rs2292873-A	0.061	8E-6	(TG )	0.03	[NR] mg/dL increase	Illumina [899892]	N
2405	chr2	238672424	238672425	rs11680012	23505185	Plourde M	2012-06-28	Obesity (Silver Spring)	A variant in the LRRFIP1 gene is associated with adiposity and inflammation.	Adiposity	928 French Canadian individuals	NA	2q37.3	LRRFIP1	rs11680012-C	0.05	4E-6	(TAT)	0.581	[NR] cm2 increase	Illumina [543714]	N
2407	chr2	238822330	238822331	rs10185142	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q37.3	RAMP1	rs10185142-A	0.216	8E-6	(DBP )	0.03	[NR] mmHg increase	Illumina [899892]	N
2409	chr2	239095421	239095422	rs12472274	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	2q37.3	ILKAP	rs12472274-?	NR	2E-8	(levels)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
2409	chr2	239150814	239150815	rs4663866	25248455	Ek WE	2014-09-23	Gut	Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.	Irritable bowel syndrome	534 European ancestry cases, 4,932 European ancestry controls	1,718 European ancestry cases, 1,793 European ancestry controls	2q37.3	HES6	rs4663866-C	0.10	5E-6		1.45	[1.18-1.89]	Illumina [1253036] (imputed)	N
2410	chr2	239306267	239306268	rs3739070	21835309	Larsson M	2011-08-12	Am J Hum Genet	GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.	Iris characteristics	2,121 European ancestry individuals	499 European ancestry adolescent twins and siblings, 73 European ancestry adult individuals	2q37.3	TRAF3IP1	rs3739070-A		6E-6	(Crypts)	0.16	[0.10-0.22] unit decrease	Illumina [274604] (imputed)	N
2410	chr2	239306267	239306268	rs3739070	21835309	Larsson M	2011-08-12	Am J Hum Genet	GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.	Iris characteristics	2,121 European ancestry individuals	499 European ancestry adolescent twins and siblings, 73 European ancestry adult individuals	2q37.3	TRAF3IP1	rs3739070-A		2E-12	(Furrows)	0.25	[0.19-0.31] unit increase	Illumina [274604] (imputed)	N
2411	chr2	239349361	239349362	rs3769124	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	2q37.3	ASB1	rs3769124-G	NR	7E-8	(FEV1)	0.047	[0.029-0.065] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2413	chr2	239638299	239638300	rs4545955	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	2q37.3	intergenic	rs4545955-?		7E-6				NR [~ 3000000] (imputed)	N
2413	chr2	239694630	239694631	rs9287638	22693459	Li R	2012-05-31	PLoS Genet	Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.	Male-pattern baldness	3,891 European ancestry cases, 8,915 European ancestry controls	NA	2q37.3	HDAC4	rs9287638-A	0.562	1E-12		1.31	[1.21-1.41]	Affymetrix, Illumina [2391230] (imputed)	N
2414	chr2	239839783	239839784	rs144363312	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	2q37.3	NR	rs144363312-?	NR	3E-6	(AA)	1.5622	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2414	chr2	239839783	239839784	rs144363312	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	2q37.3	NR	rs144363312-?	NR	2E-8	(AA)	1.6807	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2414	chr2	239857752	239857753	rs62191099	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	2q37.3	FLJ43879	rs62191099-A	0.3	5E-6		1.25	[1.17-1.33]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
2415	chr2	239877147	239877148	rs12477314	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	2q37.3	HDAC4	rs12477314-?	NR	2E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
2415	chr2	239877147	239877148	rs12477314	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	2q37.3	HDAC4	rs12477314-T	0.20	2E-12	(FEV1/FVC)	0.041	[0.029-0.053] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2415	chr2	239877147	239877148	rs12477314	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	2q37.3	HDAC4	rs12477314-T	0.20	1E-7	(FEV1)	0.028	[0.018-0.038] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2416	chr2	240112971	240112972	rs3791556	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	2q37.3	HDAC4, MGC16025	rs3791556-A		8E-6	(Modelling analysis)	1.08	[1.04-1.11]	NR [1252901] (imputed)	N
2417	chr2	240234900	240234901	rs10200850	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	2q37.3	HDAC4	rs10200850-?	NR	8E-6		2.23	[1.57-3.17]	Illumina [534390]	N
2418	chr2	240330993	240330994	rs843451	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	2q37.3	intergenic	rs843451-G	0.742	7E-6	(Ordinal)	0.2849	[0.16-0.41] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
2419	chr2	240418659	240418660	rs6743931	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	2q37.3	intergenic	rs6743931-?	NR	2E-6	(AIMS)			Affymetrix [492000]	N
2419	chr2	240441157	240441158	rs10174165	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	2q37.3	LOC100132902, FLJ45964	rs10174165-A	0.075	2E-6		2.89	[1.84-4.53]	Illumina [1556551]	N
2419	chr2	240444052	240444053	rs6706785	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	2q37.3	AC079612.1	rs6706785-?		6E-6	(EA, Inherited)	1.91	[1.44-.254]	Illumina [2421290] (imputed)	N
2419	chr2	240444218	240444219	rs11679072	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	2q37.3	FLJ45964	rs11679072-?	NR	6E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
2421	chr2	240687288	240687289	rs10207060	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q37.3	LOC150935	rs10207060-A	0.45	6E-6	(Fat free mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
2421	chr2	240745717	240745718	rs4852140	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q37.3	LOC150935	rs4852140-A	0.328	8E-6	(Dinner intake )	0.04	[NR] kcal increase	Illumina [899892]	N
2422	chr2	240843637	240843638	rs12618573	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	2q37.3	intergenic	rs12618573-?	NR	8E-6	(SF6)			Affymetrix [5476100] (imputed)	N
2422	chr2	240900120	240900121	rs13424612	23910658	McRae JF	2013-07-31	Curr Biol	Identification of regions associated with variation in sensitivity to food-related odors in the human genome.	Odorant perception (isobutyraldehyde)	187 European ancestry individuals	Up to 109 Asian ancestry indiviudals	2q37.3	NDUFA10, OR6B2	rs13424612-?		6E-10		6.62	[NR] unit increase	Affymetrix [619656]	N
2426	chr2	241308504	241308505	rs1574192	19023125	Potkin SG	2008-11-20	Schizophr Bull	A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.	Brain imaging in schizophrenia (interaction)	46 European ancestry cases, 60 European ancestry controls, 18 cases, 14 controls	NA	2q37.3	GPC1	rs1574192-?	0.38	4E-6				Illumina [302783]	N
2427	chr2	241495012	241495013	rs4305276	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	2q37.3	ANKMY1	rs4305276-G	NR	2E-11		0.008	[0.006-0.01] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2427	chr2	241515595	241515596	rs2953145	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	2q37.3	NR	rs2953145-C	0.23	7E-6		1.84	[1.31-2.58]	Affymetrix [469557]	N
2427	chr2	241563738	241563739	rs4676410	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q37.3	NR	rs4676410-?	NR	4E-18	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
2427	chr2	241563738	241563739	rs4676410	22821403	Ellinghaus D	2012-07-23	Hepatology	Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.	Sclerosing cholangitis and ulcerative colitis (combined)	Up to 389 European ancestry primary sclerosing cholangitis cases, 987 European ancestry ulcerative colitis cases, 2,968 European ancestry controls	1,012 European ancestry primary sclerosing cholangitis cases, 4,444 European ancestry ulcerative colitis cases, 11,659 European ancestry controls	2q37.3	GPR35	rs4676410-A	0.20	2E-9	(PSC)	1.38	[1.24-1.53]	Affymetrix [up to 1279891] (imputed)	N
2428	chr2	241569691	241569692	rs3749171	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q37.3	NR	rs3749171-A	0.1806	4E-18	(EA)	1.1533448	[1.12-1.19]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2428	chr2	241569691	241569692	rs3749171	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q37.3	NR	rs3749171-A	0.1806	6E-6	(EA)	1.075187	[1.04-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2428	chr2	241569691	241569692	rs3749171	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	2q37.3	GPR35	rs3749171-T	0.167	3E-21		1.135	[1.093-1.177]	Affymetrix, Illumina [1230000] (imputed)	N
2428	chr2	241579107	241579108	rs4676406	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	2q37.3	GPR35	rs4676406-T	0.52	8E-11		1.14	[1.09-1.18]	Affymetrix, Illumina [~ 1100000] (imputed)	N
2429	chr2	241818526	241818527	rs4344931	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	2q37.3	AGXT	rs4344931-A	0.29	8E-10		0.02	[0.014-0.026] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2429	chr2	241819795	241819796	rs4675874	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	2q37.3	AGXT	rs4675874-A	0.71	3E-20	(X-12556)	0.024	[0.018-0.03] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2431	chr2	242012728	242012729	rs6721345	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Sex hormone-binding globulin levels	1,598 European ancestry female individuals	NA	2q37.3	SNED1, MTERFD2	rs6721345-A	0.01	3E-6		1.13	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
2431	chr2	242021215	242021216	rs2302045	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio)	Up to 829 European ancestry cases	NA	2q37.3	SNED1	rs2302045-T	0.067	4E-7		0.4064	[NR] unit decrease	Affymetrix [686595]	N
2431	chr2	242053545	242053546	rs17382723	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	2q37.3	PASK	rs17382723-C	0.96	3E-7		0.206	[0.13-0.28] unit increase	Affymetrix [1532051] (imputed)	N
2433	chr2	242262985	242262986	rs12694997	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	2q37.3	SEPT2	rs12694997-A	0.24	1E-8		0.024	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
2433	chr2	242296448	242296449	rs1476698	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	2q37.3	FARP2	rs1476698-A	0.65	2E-9	(EA)	0.007	[0.005-0.009] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
2434	chr2	242371100	242371101	rs757978	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	2q37.3	FARP2	rs757978-A	0.11	1E-7		1.29	[NR]	Illumina [549934]	N
2434	chr2	242371100	242371101	rs757978	22700719	Slager SL	2012-06-13	Blood	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,121 European ancestry cases, 3,745 European ancestry controls	861 European ancestry cases, 2,033 European ancestry controls	2q37.3	NR	rs757978-T	0.26	3E-6		1.46	[1.25-1.72]	Affymetrix, Illumina [~ 1500000] (imputed)	N
2434	chr2	242382863	242382864	rs3771570	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	2q37.3	BOK-AS1, DTYMK, FARP2, HDLBP, SEP2, STK25, THAP4, ANO7, ATG4B, BOK	rs3771570-A	0.15	5E-9		1.12	[1.08-1.17]	Illumina [~ 2600000] (imputed)	N
2435	chr2	242502955	242502956	rs12479254	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	2q37.3	THAP4, BOK	rs12479254-?	0.40	6E-7				Illumina [448293]	N
2436	chr2	242737340	242737341	rs35320439	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	2q37.3	PDCD1, ATG4B	rs35320439-G	0.3104	1E-9	(EA)	1.0876893	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
2439	chr2	243026494	243026495	rs749924	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	2q37.3	C2orf85	rs749924-T	0.5	1E-7	(AA)	0.19	[0.11-0.27] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
2439	chr2	243048759	243048760	rs12478296	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	2q37.3	LOC728323	rs12478296-A	0.446	8E-6	(Vitamin B12 )	0.03	[NR] pmol/L increase	Illumina [899892]	N
585	chr3	108992	108993	rs9841287	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	3p26.3	CHL1	rs9841287-?		7E-9				Affymetrix, Illumina [~ 2400000] (imputed)	N
586	chr3	149985	149986	rs12485321	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	3p26.3	CHL1	rs12485321-?	NR	3E-6	(rs6465657)	1.2346	[1.14-1.35]	Affymetrix, Illumina [1117531] (imputed)	N
586	chr3	172476	172477	rs6795349	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	3p26.3	CHL1	rs6795349-G	0.03	2E-6	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
586	chr3	191046	191047	rs10510181	21216876	Sharma S	2011-01-07	Hum Mol Genet	Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.	Adolescent idiopathic scoliosis	1,113 European, African, Oceania, Hispanic and other ancestry individuals from 418 families	562 European ancestry cases, 666 European ancestry controls, 137 cases, 2,126 controls	3p26.3	LOC642891, CHL1	rs10510181-A	0.33	8E-7	(EA)	1.37	[1.20-1.58]	Illumina [326498]	N
586	chr3	253918	253919	rs11917787	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3p26.3	NR	rs11917787-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
587	chr3	312348	312349	rs6764363	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	3p26.3	CHL1	rs6764363-?	0.36	6E-6	(Recessive)	1.19	[1.10-1.28]	Affymetrix [319222]	N
588	chr3	397552	397553	rs892295	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p26.3	CHL1	rs892295-A	0.033	4E-6	(ALT )	0.03	[NR] U/L increase	Illumina [899892]	N
588	chr3	397552	397553	rs892295	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p26.3	CHL1	rs892295-A	0.033	1E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
591	chr3	792826	792827	rs74427637	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p26.3	NR	rs74427637-?	NR	2E-6	(Native Hawaiian)	1.2837	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
591	chr3	883850	883851	rs4684585	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	3p26.3	CNTN6, LOC402123, CHL1	rs4684585-G	0.43	9E-7	(LDL, sum)			Illumina [~ 2500000] (imputed)	N
591	chr3	898660	898661	rs35964523	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	3p26.3	CNTN6, LOC402123, CHL1	rs35964523-T	0.42	8E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
592	chr3	1046037	1046038	rs6764623	23650146	Tang W	2013-05-05	Genet Epidemiol	A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Venous thromboembolism	1,618 European ancestry cases, 42,881 European ancestry controls	3,231 European ancestry cases, 3,536 European ancestry controls	3p26.3	CNTN6	rs6764623-C	0.74	2E-6		1.18	[1.10-1.26]	Affymetrix, Illumina [2543885] (imputed)	N
593	chr3	1129818	1129819	rs76090503	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3p26.3	CNTN6	rs76090503-?	NR	4E-7				Affymetrix [5486770] (imputed)	N
594	chr3	1301129	1301130	rs9815195	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3p26.3	NR	rs9815195-?	NR	7E-7				Affymetrix [5486770] (imputed)	N
595	chr3	1345424	1345425	rs9861887	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p26.3	CNTN6	rs9861887-T	0.76	9E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
596	chr3	1512586	1512587	rs6763848	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	3p26.3	CNTN6	rs6763848-?	NR	4E-6	(rs9623117)	1.3	[1.16-1.45]	Affymetrix, Illumina [1117531] (imputed)	N
597	chr3	1623392	1623393	rs402675	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Estradiol levels	1,583 European ancestry female individuals	NA	3p26.3	intergenic	rs402675-A	0.50	6E-6		0.097	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
597	chr3	1632352	1632353	rs4684256	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	3p26.3	CNTN6	rs4684256-T	0.28	1E-7		1.48	[1.382-1.58]	Illumina [NR]	N
598	chr3	1741764	1741765	rs73001827	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	3p26.3	intergenic	rs73001827-?	NR	1E-6	(SF7)			Affymetrix [5476100] (imputed)	N
599	chr3	1839692	1839693	rs10510217	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	3p26.3	CNTN4	rs10510217-?	NR	3E-6		0.004	[NR] unit increase	Illumina [478011]	N
599	chr3	1897972	1897973	rs2727943	22205951	Kerner B	2011-12-21	PLoS One	Genome-wide association study in bipolar patients stratified by co-morbidity.	Bipolar disorder	1,000 European ancestry cases, 1,034 European ancestry controls	NA	3p26.3	intergenic	rs2727943-?	NR	3E-8	(Latent Class 2)			Affymetrix [728331]	N
600	chr3	1994643	1994644	rs6442708	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	3p26.3	LOC727810, CNTN4	rs6442708-A	0.053	4E-7		3.35	[2.04-5.5]	Illumina [1556551]	N
600	chr3	2034354	2034355	rs2729313	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	3p26.3	intergenic	rs2729313-T	0.075	8E-6		0.169	[0.095-0.243] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
602	chr3	2236856	2236857	rs4685495	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	3p26.3	CNTN4	rs4685495-A	NR	3E-6		1.29	[NR]	Illumina [up to 9792010] (imputed)	N
602	chr3	2264608	2264609	rs4685500	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Middle childhood and early adolescence aggressive behavior	16,311 European ancestry individuals	NA	3p26.3	CNTN4	rs4685500-T	0.1875	8E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
603	chr3	2423126	2423127	rs17013524	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	3p26.3	CNTN4	rs17013524-T	0.0578	9E-6		1.833	[NR] unit decrease	Illumina [1216074] (imputed)	N
603	chr3	2485968	2485969	rs9878978	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	3p26.3	CNTN4	rs9878978-?	NR	5E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
604	chr3	2547785	2547786	rs17194490	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p26.3	NR	rs17194490-T	NR	1E-11		1.1	[NR]	Illumina [7158791] (imputed)	N
604	chr3	2547785	2547786	rs17194490	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	3p26.3	CNTN4	rs17194490-T	0.156	3E-11		1.101	[1.070-1.132]	Affymetrix, Illumina [9005918] (imputed)	N
605	chr3	2624937	2624938	rs2619566	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	3p26.3	CNTN4	rs2619566-G	NR	7E-6	(age of onset)	3.03	[1.71-4.35] years decrease	Illumina [288357]	N
605	chr3	2654690	2654691	rs4370013	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Blood pressure	Up to 1,327 individuals	NA	3p26.3	CNTN4	rs4370013-?	NR	4E-6	(DBP)			Affymetrix [70897]	N
606	chr3	2821615	2821616	rs7652782	24379826	Voruganti VS	2013-12-16	Front Genet	Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans.	Serum uric acid levels	632 Mexican American individuals	NA	3p26.3	CNTN4	rs7652782-A	0.06	7E-7				Illumina [NR] (imputed)	N
606	chr3	2846315	2846316	rs975334	22318345	Cha PC	2012-02-09	J Hum Genet	A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.	Gallbladder cancer	41 Japanese ancestry cases, 866 Japanese ancestry controls	30 Japanese ancestry cases, 898 Japanese ancestry controls	3p26.2	NR	rs975334-C	0.16	9E-7		8.3	[3.57-19.26]	Illumina [425706] (imputed)	N
606	chr3	2881574	2881575	rs6781149	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	3p26.2	CNTN4	rs6781149-?,rs17584516-?,rs4629318-?,rs11713158-?	NR	1E-7	(Cell adhesion; neurodevelopment)			Illumina [795637]	N
607	chr3	2886526	2886527	rs17584516	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	3p26.2	CNTN4	rs6781149-?,rs17584516-?,rs4629318-?,rs11713158-?	NR	1E-7	(Cell adhesion; neurodevelopment)			Illumina [795637]	N
607	chr3	2893273	2893274	rs4629318	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	3p26.2	CNTN4	rs6781149-?,rs17584516-?,rs4629318-?,rs11713158-?	NR	1E-7	(Cell adhesion; neurodevelopment)			Illumina [795637]	N
607	chr3	2895683	2895684	rs11713158	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	3p26.2	CNTN4	rs6781149-?,rs17584516-?,rs4629318-?,rs11713158-?	NR	1E-7	(Cell adhesion; neurodevelopment)			Illumina [795637]	N
607	chr3	2895683	2895684	rs11713158	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	3p26.2	CNTN4	rs11713158-?	NR	9E-7	(High intelligence)	5.04	[3.06-7.02] unit increase	Illumina [795637]	N
608	chr3	3055246	3055247	rs17024684	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		3p26.2	CNTN4	rs17024684-?	NR	2E-9	(Clustering coefficient - L-isthmus of the cingulate)			Illumina [428287]	N
608	chr3	3130220	3130221	rs334809	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		3p26.2	IL5RA	rs334809-A	NR	1E-6		0.3286	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr3	3130644	3130645	rs3804795	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	3p26.2	IL5RA	rs3804795-?		1E-6	(AA)			Illumina [NR]	N
609	chr3	3147980	3147981	rs17879755	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	3p26.2	NR	rs17879755-C	0.91	2E-6		5.64	[3.37-7.91] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
609	chr3	3199634	3199635	rs1669338	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	3p26.2	CRBN	rs1669338-?	0.17	6E-6				Illumina [565404]	N
609	chr3	3231837	3231838	rs1672743	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p26.2	NR	rs1672743-T	0.053157	6E-6	(IGP16)	1.1657	[0.66-1.67] unit increase	Illumina [~ 2500000] (imputed)	N
610	chr3	3356173	3356174	rs9874556	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	3p26.2	NR	rs9874556-A	0.47	9E-6		1.3	[1.18-1.42]	Illumina [4058415] (imputed)	N
610	chr3	3356173	3356174	rs9874556	23180869	Wu C	2012-11-24	Gut	Genome-wide association study of survival in patients with pancreatic adenocarcinoma.	Pancreatic cancer	642 European ancestry cases	363 Chinese ancestry cases	3p26.2	intergenic	rs9874556-A	0.46	4E-6		1.31	[1.17-1.46]	Illumina [2731086] (imputed)	N
610	chr3	3375783	3375784	rs9835812	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	3p26.2	CRBN	rs9835812-?		8E-7	(Hispanic)			Illumina [NR]	N
612	chr3	3588041	3588042	rs17684824	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3p26.2	CRBN	rs17684824-?		4E-6				Illumina [859311]	N
612	chr3	3614886	3614887	rs9815663	22560479	Forno E	2012-05-02	J Allergy Clin Immunol	Genome-wide association study of the age of onset of childhood asthma.	Asthma (childhood onset)	573 European ancestry children	107 European ancestry children, 591 Hispanic children, 233 children	3p26.2	IL5RA	rs9815663-T	0.1820	2E-8		0.17	[NR] unit decrease	Illumina [512296]	N
612	chr3	3628980	3628981	rs10865864	23874384	Viding E	2013-07-09	PLoS One	Genetics of callous-unemotional behavior in children.	Callous-unemotional behaviour	2,930 European ancestry children	NA	3p26.2	LRRN1	rs10865864-G	0.197	4E-6				Affymetrix [1724317] (imputed)	N
612	chr3	3650238	3650239	rs9837561	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	3p26.2	intergenic	rs9837561-?	NR	3E-6	(SF9)			Affymetrix [5476100] (imputed)	N
612	chr3	3658839	3658840	rs1601875	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	3p26.2	NR	rs1601875-?	0.50	7E-6		1.14	[NR]	Affymetrix [1769948] (imputed)	N
613	chr3	3679851	3679852	rs17034687	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	3p26.2	intergenic	rs17034687-C	0.09	2E-9		0.23	[0.16-0.30] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr3	4223615	4223616	rs2587949	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	3p26.1	SETMAR	rs2587949-G	0.44	8E-6	(Age 20-81 years)	0.1432	[0.081-0.206] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
618	chr3	4437357	4437358	rs794185	20802204	Baranzini SE	2010-09-01	Brain	Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.	Multiple sclerosis--Brain Glutamate Levels	382 cases	NA	3p26.1	SUMF1	rs794185-?	NR	6E-7				Illumina [~ 500000]	N
620	chr3	4633491	4633492	rs2322734	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	3p26.1	ITPR1	rs2322734-?	0.04	8E-6	(FEV1 65%)	1.4493	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
620	chr3	4656037	4656038	rs72622154	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p26.1	NR	rs72622154-?	NR	3E-6	(EA)	0.3942	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
620	chr3	4703936	4703937	rs7632000	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p26.1	ITPR1	rs7632000-A	0.105	7E-7	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
621	chr3	4742275	4742276	rs6762644	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	3p26.1	ITPR1, EGOT	rs6762644-G	0.4	2E-12		1.07	[1.04-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
621	chr3	4793005	4793006	rs17041333	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p26.1	NR	rs17041333-?	NR	3E-8	(EA)	0.8959	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
623	chr3	5013875	5013876	rs6442925	21979947	Li X	2011-10-06	Hum Mol Genet	A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.	Corneal structure	222 European ancestry cases, 3,324 European ancestry controls	304 European ancestry cases, 518 European ancestry controls, 146 European ancestry cases and 161 European ancestry controls from 70 families	3p26.1	BHLHB2	rs6442925-?	NR	2E-6		1.56		Illumina [~ 290000]	N
623	chr3	5034813	5034814	rs78745845	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3p26.1	NR	rs78745845-?	NR	3E-6	(EA)	1.0382	[0.61-1.47] unit decrease	Illumina [up to 11892802] (imputed)	N
624	chr3	5188245	5188246	rs11918654	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	3p26.1	ARL8B	rs11918654-C	0.27	7E-6		0.11	[0.063-0.157] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
628	chr3	5705051	5705052	rs11710433	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	3p26.1	intergenic	rs11710433-?	NR	1E-6		1.23	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
632	chr3	6255996	6255997	rs6774280	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	3p26.1	intergenic	rs6774280-?	0.23	9E-7	(CSJC , EA, RF-)	5.5	[NR] unit decrease	Illumina [534053]	N
633	chr3	6377694	6377695	rs271066	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	3p26.1	intergenic	rs271066-?	NR	3E-6		0.6491	unit decrease	Illumina [2543888] (imputed)	N
634	chr3	6481624	6481625	rs17216035	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p26.1	GRM7	rs17216035-A	0.28	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
635	chr3	6562330	6562331	rs155206	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3p26.1	NR	rs155206-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
636	chr3	6800810	6800811	rs168302	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	3p26.1	GRM7	rs168302-T	NR	1E-7	(Pi10, Cases)	0.016	[0.0082-0.0238] unit decrease	Illumina [7600000] (imputed)	N
636	chr3	6808217	6808218	rs76493322	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	3p26.1	GRM7	rs76493322-A	NR	3E-7	(WAP, Cases)	0.36	[0.22-0.5] unit decrease	Illumina [7600000] (imputed)	N
637	chr3	6903296	6903297	rs3749380	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	3p26.1	GRM7	rs3749380-?	0.25	2E-6				Affymetrix [253903]	N
638	chr3	7005020	7005021	rs1516570	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p26.1	NR	rs1516570-A	NR	5E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
638	chr3	7010080	7010081	rs480409	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)	106 Japanese ancestry cases, 187 Japanese ancestry controls	NA	3p26.1	GRM7	rs480409-G	0.348	9E-6	(Recessive model)	1.842	[1.307-2.596]	Illumina [733202]	N
640	chr3	7262013	7262014	rs6797852	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	3p26.1		rs6797852-?,rs1810320-?	NR	3E-6	(Haplotype-?????)			Illumina [1006480]	N
640	chr3	7283968	7283969	rs1810320	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	3p26.1		rs6797852-?,rs1810320-?	NR	3E-6	(Haplotype-?????)			Illumina [1006480]	N
640	chr3	7285684	7285685	rs2007029	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	3p26.1	GRM7	rs2007029-?		4E-6				Illumina [5970354] (imputed)	N
641	chr3	7403645	7403646	rs13080594	21368711	Alliey-Rodriguez N	2011-03-02	Psychiatr Genet	Genome-wide association study of personality traits in bipolar patients.	Personality traits in bipolar disorder	1,951 European ancestry cases	NA	3p26.1	GRM7	rs13080594-?	NR	8E-7	(ZKPQ-neuroticism anxiety)			Affymetrix [702866]	N
642	chr3	7529554	7529555	rs9870680	20038947	Shyn SI	2009-12-29	Mol Psychiatry	Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.	Major depressive disorder (broad)	3,957 European ancestry cases, 3,428 European ancestry controls	NA	3p26.1	GRM7	rs9870680-T	0.44	1E-6		1.19	[NR]	Affymetrix, Perlegen [2391203] (imputed)	N
642	chr3	7538201	7538202	rs1450100	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	3p26.1	GRM7	rs1450100-?	0.65	8E-6	(CL)	1.54	[1.85-1.27]	Illumina [NR]	N
645	chr3	7920648	7920649	rs73130949	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3p26.1	NR	rs73130949-?	NR	2E-6		0.5089	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
645	chr3	7920648	7920649	rs73130949	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p26.1	NR	rs73130949-?	NR	2E-7		0.4934	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
645	chr3	7982826	7982827	rs4591494	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Factor VII	886 European ancestry individuals	NA	3p26.1	intergenic	rs4591494-?	0.19	9E-6				Affymetrix [70897]	N
646	chr3	8016954	8016955	rs1825500	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	3p26.1	GRM7, LMCD1_AS1	rs1825500-C	0.81	6E-6	(men)	0.129	[0.074-0.184] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
646	chr3	8016954	8016955	rs1825500	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	3p26.1	GRM7, LMCD1_AS1	rs1825500-C	0.81	4E-6		0.08	[0.047-0.113] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
647	chr3	8141951	8141952	rs13317787	26083657	Stafford-Smith M	2015-06-17	Kidney Int	Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.	Acute kidney injury in coronary artery bypass surgery (creatinine rise)	873 European ancestry cases	380 European ancestry cases	3p25.3	GRM7, LMCD1-AS1	rs13317787-A	0.028	5E-7		21.66	[13.19-30.13] unit increase	Illumina [530716] (imputed)	N
647	chr3	8250789	8250790	rs9866825	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	3p25.3	NR	rs9866825-A	0.41	8E-6		1.18	[0.67-1.69] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
650	chr3	8608919	8608920	rs171408	26301497	Dina C	2015-08-24	Nat Genet	Genetic association analyses highlight biological pathways underlying mitral valve prolapse.	Mitral valve prolapse	1,442 European ancestry cases, 2,439 European ancestry controls	1,422 European ancestry cases, 6,779 European ancestry controls	3p25.3	LMCD1	rs171408-G	0.22	1E-11		1.32	[1.22-1.43]	Affymetrix, Illumina [~ 4800000] (imputed)	N
652	chr3	8808514	8808515	rs237899	22064162	Edwards AC	2011-11-05	Psychiatr Genet	Genome-wide association study of comorbid depressive syndrome and alcohol dependence.	Depression and alcohol dependence	467 European ancestry cases, 407 European ancestry controls	NA	3p25.3	OXTR	rs237899-?	NR	2E-6		1.69	[1.36-2.10]	Illumina [876476]	N
652	chr3	8863808	8863809	rs17049612	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p25.3	NR	rs17049612-?	NR	6E-7		0.3986	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
655	chr3	9214816	9214817	rs76153987	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	3p25.3	SRGAP3	rs76153987-T	0.050	4E-6		0.195	[0.077-0.313] unit decrease	Illumina [6391392] (imputed)	N
657	chr3	9479141	9479142	rs2442825	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	3p25.3	SETD5	rs2442825-?		8E-6		0.237	[NR] unit decrease	Illumina [5970354] (imputed)	N
657	chr3	9518510	9518511	rs2279440	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	3p25.3	SETD5	rs2279440-?		3E-6	(M)	21.57	[12.5-30.64] unit decrease	Illumina [693128]	N
661	chr3	10030290	10030291	rs146559718	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3p25.3	NR	rs146559718-?	NR	1E-6		0.2043	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
662	chr3	10135576	10135577	rs1552244	24755620	Perez-Palma E	2014-04-22	PLoS One	Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.	Alzheimer's disease	2,540 European ancestry cases, 2,029 European ancestry controls	NA	3p25.3	FANCD2, FANCD2OS	rs1552244-A		2E-6		1.32	[NR]	Affymetrix, Illumina [1216213] (imputed)	N
664	chr3	10415342	10415343	rs9879311	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p25.3	NR	rs9879311-T	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
664	chr3	10484725	10484726	rs17603886	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3p25.3	ATP2B2	rs17603886-?		7E-6				Illumina [859311]	N
665	chr3	10535770	10535771	rs6807064	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	3p25.3	ATP2B2	rs6807064-?	0.29	1E-7	(phenylalanine)			Affymetrix [187454]	N
667	chr3	10774758	10774759	rs1682825	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	3p25.3	intergenic	rs1682825-T	NR	4E-6		0.118	[0.067-0.169] unit increase	Illumina [628922]	N
667	chr3	10804550	10804551	rs6800435	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p25.3	NR	rs6800435-A	NR	5E-7		1.08	[NR]	Illumina [7158791] (imputed)	N
667	chr3	10877610	10877611	rs1809529	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	3p25.3	SLC6A11	rs1809529-?	0.34	3E-7	(CHAQ, RF-)	0.28	[NR] unit increase	Illumina [534053]	N
668	chr3	10885919	10885920	rs2304725	25221879	Wu K	2014-09-15	Am J Respir Crit Care Med	Genome-wide Interrogation of Longitudinal FEV1 in Children with Asthma.	Pulmonary function in asthmatics	510 European ancestry	NA	3p25.3	SLC6A11	rs2304725-C	0.29	3E-6	(Baseline FEV1)	0.026	[NR] unit increase	Illumina [473680]	N
669	chr3	11040438	11040439	rs9990174	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	3p25.3	SLC6A1	rs9990174-T	0.33	6E-6	(int, MW)	2.52	[NR] unit decrease	Perlegen [429901]	N
669	chr3	11045895	11045896	rs11710497	26081443	Adkins DE	2015-06-17	Twin Res Hum Genet	Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood.	Longitudinal alcohol consumption	2,126 adolescents and early adults	NA	3p25.3	SLC6A1	rs11710497-A	0.11	1E-7	(mean)	5.29	z-score decrease	Illumina [866099] (imputed)	N
669	chr3	11075013	11075014	rs2675163	22437554	Major JM	2012-03-21	J Nutr	Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.	Response to Vitamin E supplementation	2,112 European ancestry individuals	NA	3p25.3	SLC6A1	rs2675163-C	0.23	6E-6	(change in alpha-TOH)	0.68	[0.39-0.97] unit increase	Illumina [549989]	N
670	chr3	11232778	11232779	rs4684059	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p25.3	NR	rs4684059-C	0.369267114374722	8E-6	(IGP40)	0.1691	[0.095-0.243] unit increase	Illumina [~ 2500000] (imputed)	N
671	chr3	11400248	11400249	rs2606736	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	3p25.3	ATG7	rs2606736-C	0.39	5E-8		0.025	[NR] unit increase	NR [NR] (imputed)	N
672	chr3	11412603	11412604	rs7635838	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	3p25.3	ATG7	rs7635838-T	0.39	2E-9		0.037	[0.025-0.049] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
673	chr3	11625413	11625414	rs6802119	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	3p25.3	VGLL4	rs6802119-C		8E-6		0.2221	unit decrease	Illumina [5767231] (imputed)	N
673	chr3	11625413	11625414	rs6802119	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	3p25.3	VGLL4	rs6802119-C	NR	2E-6		0.2341	unit decrease	Illumina [5767231] (imputed)	N
673	chr3	11641534	11641535	rs6772112	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	3p25.2	VGLL4	rs6772112-T	0.88	8E-8		0.038	[0.022-0.054] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
674	chr3	11675788	11675789	rs6782029	21079607	Wang K	2010-11-16	Mol Psychiatry	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	Anorexia nervosa	1,033 European ancestry cases, 3,733 European ancestry controls	NA	3p25.2	VGLL4	rs6782029-?	0.24	9E-6				Illumina [~ 598000]	N
674	chr3	11694466	11694467	rs4684792	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	3p25.2	VGLL4, ATG7	rs4684792-?	0.18	9E-6		0.28	[0.16-0.4] unit decrease	Illumina [2095209]	N
676	chr3	11956597	11956598	rs6777876	21314694	Kendler KS	2011-02-11	Alcohol Clin Exp Res	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Alcohol dependence	2,357 European ancestry individuals, 812 African American individuals	NA	3p25.2	C3orf31	rs6777876-G	0.086	4E-7	(AA)			Affymetrix [NR]	N
677	chr3	12116619	12116620	rs308971	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	3p25.2	SYN2	rs308971-?		2E-7				Affymetrix, Illumina [~ 2400000] (imputed)	N
678	chr3	12267647	12267648	rs7616006	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	3p25.2	SYN2	rs7616006-A	NR	5E-8		1.997	[1.28-2.71] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
678	chr3	12277844	12277845	rs17036101	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	3p25.2	SYN2, PPARG	rs17036101-G	0.93	2E-7		1.15	[1.10-1.21]	Affymetrix, Illumina [2202892] (imputed)	N
678	chr3	12289799	12289800	rs13081389	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	3p25.2	PPARG	rs13081389-A		2E-7		1.24	[1.15-1.35]	Affymetrix, Illumina [2426886] (imputed)	N
679	chr3	12324229	12324230	rs2920503	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	3p25.2	PPARG	rs2920503-T	0.3	3E-10		0.041	[0.027-0.055] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
679	chr3	12330410	12330411	rs17036170	22968431	Urban TJ	2012-09-09	Pharmacogenet Genomics	Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs.	Drug-induced liver injury	783 European ancestry cases, 3,001 European ancestry controls	307 European ancestry cases, 2,587 European ancestry controls	3p25.2	PPARG	rs17036170-?	NR	2E-8	(Diclofenac)	11.3	[4.9-25.9]	Illumina [800769]	N
679	chr3	12336506	12336507	rs11709077	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p25.2	PPARG	rs11709077-A	0.133	2E-7	(EA)	0.024	[0.015-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
679	chr3	12336506	12336507	rs11709077	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p25.2	PPARG	rs11709077-A	0.131	1E-7		0.024	[0.015-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
679	chr3	12385827	12385828	rs11128603	22990020	Huang J	2012-09-18	Blood	Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.	Plasminogen activator inhibitor type 1 levels (PAI-1)	19,599 European ancestry individuals	10,764 European ancestry individuals	3p25.2	PPARG	rs11128603-?	NR	9E-8		0.066	[NR] unit increase	Affymetrix, Illumina [2445683] (imputed)	N
679	chr3	12393124	12393125	rs1801282	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	3p25.2	PPARG	rs1801282-C	0.88	6E-10		1.16	[1.10-1.23]	Affymetrix, Illumina [2500000] (imputed)	N
679	chr3	12393124	12393125	rs1801282	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	3p25.2	PPARG	rs1801282-?	NR	2E-7				Affymetrix, Illumina [~ 2400000] (imputed)	N
679	chr3	12393124	12393125	rs1801282	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	3p25.2	PPARG	rs1801282-C	NR	2E-6	(DGI+FUSION+WTCCC)	1.14	[1.08-1.20]	Affymetrix [393453]	N
679	chr3	12393124	12393125	rs1801282	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	3p25.2	PPARG	rs1801282-C	0.82	2E-6	(DGI+FUSION+WTCCC)	1.14	[1.08-1.20]	Illumina [315635]	N
679	chr3	12393124	12393125	rs1801282	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Type 2 diabetes	1,464 European ancestry cases, 1,467 European ancestry controls	5,065 European ancestry cases, 5,785 European ancestry controls	3p25.2	PPARG	rs1801282-C	0.86	2E-6	(DGI+FUSION+WTCCC)	1.14	[1.08-1.20]	Affymetrix [386731]	N
679	chr3	12450092	12450093	rs1699337	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	3p25.2	PPARG	rs1699337-G	0.65	9E-12		0.043	[0.031-0.055] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
680	chr3	12488881	12488882	rs4684854	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	3p25.2	PPARG	rs4684854-C		4E-6	(WHRadjBMI, women)			Affymetrix, Illumina [2846694] (imputed)	N
680	chr3	12489341	12489342	rs17819328	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p25.2	PPARG	rs17819328-G	0.4318	5E-14	(EA, women)	0.0352	[0.026-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
680	chr3	12489341	12489342	rs17819328	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p25.2	PPARG	rs17819328-G	0.4317	2E-9	(EA)	0.0208	[0.014-0.028] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
680	chr3	12489341	12489342	rs17819328	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p25.2	PPARG	rs17819328-G	0.4302	6E-10		0.0211	[0.014-0.028] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
680	chr3	12489341	12489342	rs17819328	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p25.2	PPARG	rs17819328-G	0.4277	4E-14	(women)	0.0348	[0.026-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
680	chr3	12551806	12551807	rs6766510	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	3p25.2	TSEN2	rs6766510-?	NR	2E-6	(rs10993994)	1.58	[1.31-1.91]	Affymetrix, Illumina [1117531] (imputed)	N
681	chr3	12626515	12626516	rs3729931	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	3p25.2	RAF1	rs3729931-?	NR	7E-7	(dominant)			Affymetrix [361034]	N
681	chr3	12628919	12628920	rs2290159	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	3p25.2	RAF1	rs2290159-C	0.23	2E-9		0.037	[NR] unit decrease	NR [NR] (imputed)	N
681	chr3	12628919	12628920	rs2290159	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	3p25.2	RAF1	rs2290159-C	0.22	4E-9		1.42	[0.97-1.87] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
683	chr3	12923196	12923197	rs2569991	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	3p25.2	IQSEC1	rs2569991-C	0.22	1E-6	(Age 20-81 years)	0.2	[0.12-0.28] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
688	chr3	13555835	13555836	rs2597513	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3p25.1	HDAC11	rs2597513-T	0.9	7E-10		0.036	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
689	chr3	13736999	13737000	rs4450798	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	3p25.1	FBLN2	rs4450798-T	NR	2E-6		1.26	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
689	chr3	13743131	13743132	rs9846232	21368711	Alliey-Rodriguez N	2011-03-02	Psychiatr Genet	Genome-wide association study of personality traits in bipolar patients.	Personality traits in bipolar disorder	1,951 European ancestry cases	NA	3p25.1	BC039529	rs9846232-?	NR	1E-8	(TCI-C3)			Affymetrix [702866]	N
690	chr3	13857968	13857969	rs1124480	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	3p25.1	WNT7A	rs1124480-C	0.46	9E-6	(IL6)			Illumina [588352]	N
691	chr3	13961156	13961157	rs9875589	22116950	Schuh-Huerta SM	2011-11-24	Hum Reprod	Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.	Ovarian reserve	232 European ancestry female individuals, 200 African American female individuals	NA	3p25.1	TPRXL	rs9875589-?		4E-6	(AMH levels - AA)			Affymetrix [677261]	N
695	chr3	14480777	14480778	rs6790433	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	3p25.1	SLC6A6	rs6790433-?	NR	1E-6				Affymetrix, Illumina [~ 1300000]	N
695	chr3	14530720	14530721	rs9036	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	3p25.1	GRIP2	rs9036-?	0.187	3E-6	(PAL6)			Illumina [475971]	N
701	chr3	15295363	15295364	rs1318937	22488850	Zuo L	2012-04-04	Am J Med Genet B Neuropsychiatr Genet	Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls, 449 African American cases, 480 African American controls	NA	3p25.1	SH3BP5, NR2C2, ZFYVE20	rs1318937-?	NR	4E-7				Illumina [805814]	N
701	chr3	15295363	15295364	rs1318937	21956439	Zuo L	2011-09-28	Neuropsychopharmacology	Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.	Alcohol dependence	1,409 European ancestry cases, 1,518 European ancestry controls, 681 African American cases, 508 African American controls	NA	3p25.1	SH3BP5	rs1318937-?	NR	3E-6	(EA + AA)			Illumina [805814]	N
702	chr3	15404202	15404203	rs13085837	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	3p25.1	SH3BP5	rs13085837-A	0.12	1E-6	(Right HG area)	7.41	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
702	chr3	15440555	15440556	rs6442522	18759275	McArdle PF	2008-09-01	Arthritis Rheum	Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.	Uric acid levels	408 Old Order Amish female individuals, 460 Old Order Amish male individuals	Framingham Heart Study (Sample size NR)	3p25.1	NR	rs6442522-?	NR	5E-6		0.05	[NR] mg/dl increase in uric acid levels	Affymetrix [361034]	N
704	chr3	15648003	15648004	rs7651039	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	3p25.1	intergenic	rs7651039-C	0.54	2E-6		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
704	chr3	15663059	15663060	rs2455826	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	3p25.1	BTD	rs2455826-?	NR	6E-8	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
708	chr3	16192142	16192143	rs6771632	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	3p25.1	NR	rs6771632-?		9E-6	(EA)			Illumina [up to 524000]	N
710	chr3	16395667	16395668	rs690037	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup-to-disc ratio)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	3p24.3	RFTN1	rs690037-C	NR	6E-7		0.198	[0.11-0.28] unit increase	Illumina [~ 2740000] (imputed)	N
710	chr3	16395667	16395668	rs690037	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	3p24.3	RFTN1	rs690037-C	NR	2E-7		0.208	[0.12-0.29] unit increase	Illumina [~ 2740000] (imputed)	N
710	chr3	16408488	16408489	rs12635698	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	3p24.3	RAFTLIN	rs12635698-C	0.15	5E-6		1.41	[1.21-1.63]	Illumina [457251]	N
710	chr3	16417554	16417555	rs493733	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	3p24.3	RFTN1	rs493733-G	0.46	6E-6	(Men)	0.013144915	[0.0074-0.0189] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
711	chr3	16625047	16625048	rs10510452	25877299	Kristiansen W	2015-04-15	Hum Mol Genet	Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.	Testicular germ cell tumor	1,326 European ancestry cases, 6,687 European ancestry controls	710 European ancestry case-parent triads, 289 European ancestry cases, 290 European ancestry controls	3p24.3	DAZL	rs10510452-A	0.729	3E-9		1.32	[NR]	Illumina [610240]	N
711	chr3	16625047	16625048	rs10510452	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	3p24.3	DAZL	rs10510452-A	0.69	1E-8		1.24	[1.12-1.37]	Illumina [307291]	N
713	chr3	16846966	16846967	rs9881798	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p24.3	NR	rs9881798-C	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
714	chr3	16955258	16955259	rs1372072	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	3p24.3	PLCL2	rs1372072-A	0.37	2E-8		1.2	[1.12-1.27]	Illumina [507467]	N
714	chr3	16970937	16970938	rs9821630	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3p24.3	PLCL2	rs9821630-G	NR	4E-6		1.08	[1.07-1.1]	Illumina [465434]	N
714	chr3	16996034	16996035	rs4685408	25939698	Tsoi LC	2015-05-05	Nat Commun	Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.	Psoriasis	3,994 European ancestry cases, 7,699 European ancestry controls	6,268 European ancestry cases,  14,172 European ancestry controls, 5,033 cases, 5,707 controls	3p24.3	PLCL2	rs4685408-G	0.48	7E-14		1.12	[NR]	Illumina [696365] (imputed)	N
715	chr3	17047031	17047032	rs4452313	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	3p24.3	PLCL2	rs4452313-T	0.35	2E-10		1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
715	chr3	17047031	17047032	rs4452313	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	3p24.3	PLCL2	rs4452313-T	0.29	5E-11	(EA)	1.11	[1.08-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
715	chr3	17124383	17124384	rs4618210	24916648	Hirokawa M	2014-06-11	Eur J Hum Genet	A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.	Myocardial infarction	1,666 Japanese ancestry cases, 3,198 Japanese ancestry controls	11,412 Japanese ancestry cases, 28,397 Japanese ancestry controls	3p24.3	PLCL2	rs4618210-G	0.44	3E-9		1.1	[1.06-1.14]	Illumina [455781]	N
717	chr3	17330091	17330092	rs2470578	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p24.3	NR	rs2470578-G	NR	3E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
721	chr3	17859365	17859366	rs4330281	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p24.3	NR	rs4330281-C	NR	3E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
721	chr3	17859365	17859366	rs4330281	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	3p24.3	TBC1D5	rs4330281-C	0.52	5E-9		1.0638298	[1.04-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
724	chr3	18311411	18311412	rs7641175	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	3p24.3	SATB1	rs7641175-A	NR	3E-11		2.757	[1.94-3.57] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
725	chr3	18397848	18397849	rs6577641	24714607	Dijkstra AE	2014-04-08	PLoS One	Susceptibility to chronic mucus hypersecretion, a genome wide association study.	Chronic mucus hypersecretion	717 European ancestry cases, 2,385 European ancestry controls	1,963 European ancestry cases, 5,801 European ancestry controls, 24 Erasmus Ruchpen cases, 28 Erasmus Ruchpen controls	3p24.3	SATB1	rs6577641-G	0.40	4E-6		1.17	[NR]	Illumina [492700]	N
726	chr3	18581847	18581848	rs7633075	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	3p24.3	NR	rs7633075-T	0.134	6E-6		0.133	[0.076-0.19] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
727	chr3	18706505	18706506	rs68080462	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	3p24.3	AC144521.1	rs68080462-?	NR	3E-8	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
727	chr3	18706857	18706858	rs13073817	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	3p24.3	intergenic	rs13073817-A	0.322	7E-9		1.08	[1.03-1.13]	Affymetrix, Illumina [953241] (imputed)	N
727	chr3	18721735	18721736	rs76942353	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	3p24.3	NR	rs76942353-?		6E-7	(PCB153)	1.02	[0.63-1.41] unit decrease	Illumina [8736858] (imputed)	N
727	chr3	18721735	18721736	rs76942353	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	3p24.3	NR	rs76942353-?		5E-8	(PCB74)	1.18	[0.75-1.61] unit decrease	Illumina [8736858] (imputed)	N
727	chr3	18721735	18721736	rs76942353	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	3p24.3	NR	rs76942353-?		2E-7	(PCB138)	1.11	[0.7-1.52] unit decrease	Illumina [8736858] (imputed)	N
727	chr3	18741801	18741802	rs11708026	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p24.3	NR	rs11708026-?	NR	8E-11	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
728	chr3	18767403	18767404	rs4256159	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p24.3	NR	rs4256159-A	0.1459	7E-14	(EA)	1.1343944	[1.1-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
728	chr3	18767403	18767404	rs4256159	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	3p24.3	intergenic	rs4256159-T	0.14	9E-15		1.107	[1.063-1.152]	Affymetrix, Illumina [1230000] (imputed)	N
728	chr3	18784422	18784423	rs6809854	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	3p24.3	intergenic	rs6809854-G	0.19	1E-7		1.14	[1.04-1.26]	Illumina [535475]	N
729	chr3	18887984	18887985	rs7617937	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p24.3	NR	rs7617937-A	NR	7E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
732	chr3	19375790	19375791	rs2053506	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	3p24.3	KCNH8	rs2053506-?	NR	4E-6	(NeckZ1)			Affymetrix [70897]	N
738	chr3	20083880	20083881	rs1915919	24677629	Wolf EJ	2014-03-27	Depress Anxiety	A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.	Post-traumatic stress disorder	484 European ancestry trauma-exposed individuals	NA	3p24.3	KAT2B	rs1915919-?		8E-6		0.74	[0.43-1.05] unit increase	Illumina [1197702]	N
738	chr3	20101562	20101563	rs9874923	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Mean arterial pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	3p24.3	KAT2B	rs9874923-T	0.43	4E-7	(drinks/week)	0.104	[0.063-0.145] unit increase	Affymetrix [2500000] (imputed)	N
738	chr3	20108545	20108546	rs1124376	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	3p24.3	NR	rs1124376-?	NR	5E-6		1.2753	[NR]	Affymetrix [722112]	N
738	chr3	20136958	20136959	rs12636856	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (rapamycin)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	3p24.3	PCAF	rs12636856-?	NR	7E-6		0.28	[NR] unit decrease	Affymetrix, Illumina [1348798]	N
739	chr3	20220711	20220712	rs6767049	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	3p24.3	SGOL1	rs6767049-?	NR	2E-6	(Dysthymic)	0.77	[NR] unit decrease	Affymetrix [703012]	N
740	chr3	20352765	20352766	rs9871864	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	3p24.3	NR	rs9871864-G	0.464	6E-6	(Alcohol dependence)			Illumina [527829]	N
742	chr3	20615272	20615273	rs1395103	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	3p24.3	NR	rs1395103-?	NR	9E-6		1.2382	[NR]	Affymetrix [722112]	N
743	chr3	20717928	20717929	rs75430906	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	3p24.3	SGOL1	rs75430906-A	0.001	1E-7		3.46	[1.51-7.96]	Illumina [7300000] (imputed)	N
744	chr3	20957809	20957810	rs6787231	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p24.3	NR	rs6787231-C	0.900662045838896	5E-6	(IGP8)	0.261	[0.15-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
744	chr3	20957809	20957810	rs6787231	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p24.3	NR	rs6787231-C	0.900662045838896	5E-6	(IGP48)	0.2602	[0.15-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
747	chr3	21248641	21248642	rs11720452	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	3p24.3	NR	rs11720452-?	0.58	5E-6		1.15	[NR]	Affymetrix [1769948] (imputed)	N
748	chr3	21380090	21380091	rs17548918	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	3p24.3	intergenic	rs17548918-C		9E-6	(AA, factor score analysis)	0.26	[NR] unit increase	Affymetrix [up to 730090]	N
748	chr3	21447335	21447336	rs409974	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3p24.3	NR	rs409974-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
750	chr3	21636542	21636543	rs1382167	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	3p24.3	ZNF385D	rs1382167-?	NR	8E-6	(Males only)	0.045	[NR] unit increase	Illumina [522636]	N
750	chr3	21706368	21706369	rs3821396	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	3p24.3	NR	rs3821396-A	0.11	5E-6		1.23	[NR]	Affymetrix [1769948] (imputed)	N
750	chr3	21718840	21718841	rs9816269	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		3p24.3	ZNF659	rs9816269-T	NR	5E-6		0.3667	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
750	chr3	21719245	21719246	rs1490157	20522523	Kasperaviciute D	2010-06-03	Brain	Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.	Partial epilepsies	Up to 3,445 European ancestry cases, 6,935 European ancestry controls	NA	3p24.3	ZNF385D	rs1490157-?	0.739	5E-6		1.2	[1.11-1.32]	Illumina [528745]	N
752	chr3	21955197	21955198	rs11719664	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	3p24.3	intergenic	rs11719664-?	NR	2E-6	(count)			Perlegen [429981]	N
753	chr3	22122395	22122396	rs2593321	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	3p24.3	AC023798.16	rs2593321-?	0.23	8E-6				Illumina [1212217]	N
754	chr3	22171296	22171297	rs6797769	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p24.3	NR	rs6797769-T	0.548041472743521	3E-6	(IGP74)	0.1661	[0.097-0.235] unit decrease	Illumina [~ 2500000] (imputed)	N
755	chr3	22292570	22292571	rs1388551	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	3p24.3	LOC728516, ZNF385D	rs1388551-A	0.17	2E-6	(AA, Recreational physical activity)	0.07	[0.04-0.10] unit decrease	Affymetrix [706791]	N
756	chr3	22473728	22473729	rs17011371	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	3p24.3	ZNF385D	rs17011371-A	0.95	6E-6	(Age 20-81 years)	2.09	[1.52-2.88]	Affymetrix, Illumina [up to 17585496] (imputed)	N
757	chr3	22592320	22592321	rs11129078	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	3p24.3	UBE2E2	rs11129078-G	0.751	3E-21		0.057	[0.045-0.069] unit increase	Illumina [7428049] (imputed)	N
760	chr3	23013957	23013958	rs822203	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p24.3	NR	rs822203-?	NR	3E-6	(Japanese)	0.1429	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
761	chr3	23093573	23093574	rs9310709	20686651	Gudbjartsson DF	2010-07-29	PLoS Genet	Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.	Chronic kidney disease and serum creatinine levels	1,689 European ancestry cases, 37,076 European ancestry controls	1,972 European ancestry cases, 6,125 European ancestry controls	3p24.3	NR	rs9310709-C	0.41	2E-6	(CKD)	1.15	[1.09-1.22]	Illumina [~ 2500000] (imputed)	N
761	chr3	23125988	23125989	rs79143957	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	3p24.3	intergenic	rs79143957-A	0.012	4E-6		5.54	[2.46-12.47]	Illumina [1556551]	N
761	chr3	23143046	23143047	rs4591517	23300701	Jiao S	2012-12-26	PLoS One	Genome-wide search for gene-gene interactions in colorectal cancer.	Colorectal cancer	8,380 European ancestry cases, 10,558 European ancestry controls	2,527 European ancestry cases, 2,628 European ancestry controls	3p24.3	intergenic	rs4591517-?	0.28	3E-6	(rs4925386, known)	1.06	[0.88-1.29]	Illumina [2011668]	N
761	chr3	23193927	23193928	rs4619807	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	3p24.3	UBE2E2, RPL24P7	rs4619807-?		2E-6				Affymetrix [545513]	N
761	chr3	23198483	23198484	rs6780569	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	3p24.3	UBE2E2	rs6780569-G	0.83	4E-7		1.17	[1.10-1.24]	Illumina [6209637] (imputed)	N
763	chr3	23336449	23336450	rs7612463	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	3p24.3	UBE2E2	rs7612463-C	0.87	7E-9		1.1	[1.04-1.16]	Affymetrix, Illumina [2500000] (imputed)	N
767	chr3	23904761	23904762	rs28405582	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	3p24.2	LINC00691, NKIRAS1, NR1D2, RPL15, THRB, UBE2E1, UBE2E2	rs28405582-C	0.0002	1E-6		11.67	[2.53-53.75]	Illumina [7300000] (imputed)	N
768	chr3	24113251	24113252	rs6800768	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3p24.2	NR	rs6800768-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
769	chr3	24215556	24215557	rs9310732	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p24.2	NR	rs9310732-A	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
770	chr3	24268435	24268436	rs826221	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	3p24.2	THRB	rs826221-A	0.93	7E-6		2.66	[1.50-3.82] mmHg decrease	Illumina [1019297] (imputed)	N
770	chr3	24350810	24350811	rs9310736	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	3p24.2	THRB	rs9310736-A	0.35	6E-16	(EA, MCV)	0.21	[0.16-0.26] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
770	chr3	24350810	24350811	rs9310736	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	3p24.2	THRB	rs9310736-A	0.26	3E-8		0.074	[0.049-0.099] unit decrease	Illumina [561583]	N
770	chr3	24350810	24350811	rs9310736	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	3p24.2	THRB	rs9310736-A	0.26	4E-10		0.084	[0.059-0.109] unit decrease	Illumina [561583]	N
773	chr3	24647527	24647528	rs17014925	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	3p24.2	intergenic	rs17014925-?	NR	7E-6		0.0621	[0.035-0.089] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
773	chr3	24711012	24711013	rs6770162	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3p24.2	THRB	rs6770162-A	0.51	2E-12		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
776	chr3	25049309	25049310	rs11129176	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	3p24.2	RARB	rs11129176-A	0.29	3E-7	(EA)	0.028	[0.018-0.038] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
776	chr3	25049309	25049310	rs11129176	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	3p24.2	RARB	rs11129176-A	0.29	2E-8		0.026	[0.016-0.036] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
776	chr3	25106436	25106437	rs6804842	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p24.2	RARB	rs6804842-G	0.575	2E-9	(EA)	0.019	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
776	chr3	25106436	25106437	rs6804842	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p24.2	RARB	rs6804842-G	0.572	8E-7	(EA, men)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
776	chr3	25106436	25106437	rs6804842	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p24.2	RARB	rs6804842-G	0.569	8E-10		0.018	[0.012-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
776	chr3	25112170	25112171	rs993804	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	3p24.2	NR	rs993804-?	NR	1E-6		1.2846	[NR]	Affymetrix [722112]	N
777	chr3	25181029	25181030	rs9840225	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3p24.2	NR	rs9840225-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
778	chr3	25343614	25343615	rs322668	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p24.2	NR	rs322668-G	0.285734488487585	4E-6	(IGP19)	0.159	[0.092-0.226] unit decrease	Illumina [~ 2500000] (imputed)	N
778	chr3	25356872	25356873	rs322662	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	3p24.2	RARB	rs322662-A	0.107	4E-6		0.00288	[0.0017-0.0041] unit increase	Affymetrix [1219546] (imputed)	N
778	chr3	25363942	25363943	rs9822411	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	3p24.2	RARB	rs9822411-?	NR	5E-6				Perlegen [1871025] (imputed)	N
779	chr3	25520581	25520582	rs1529672	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	3p24.2	RARB	rs1529672-?	NR	7E-11	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
779	chr3	25520581	25520582	rs1529672	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	3p24.2	RARB	rs1529672-C	0.83	4E-14	(FEV1/FVC)	0.048	[0.036-0.060] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
779	chr3	25538316	25538317	rs1997352	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	3p24.2	RARB	rs1997352-?	0.74	9E-7	(All)	1.1905	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
780	chr3	25560230	25560231	rs1435703	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	3p24.2	RARB	rs1435703-T	0.06	4E-6		1.66	[1.34-2.06]	Illumina [457251]	N
780	chr3	25612564	25612565	rs3773445	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	3p24.2	RARB	rs3773445-?	0.549	3E-6	(Dichotomous PC20)	1.2658228	[NR]	Illumina [546355]	N
782	chr3	25922284	25922285	rs7644516	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	3p24.2	AC103588.1	rs7644516-G	0.12	4E-6	(KvDMR)			Illumina [515966]	N
787	chr3	26543419	26543420	rs2202157	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	3p24.1	intergenic	rs2202157-T	0.84	8E-7		4.0	[NR]	Affymetrix [up to 4467279] (imputed)	N
790	chr3	26910494	26910495	rs13059218	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	3p24.1	intergenic	rs13059218-?	NR	5E-7		0.62	unit increase	NR [at least 1978803] (imputed)	N
793	chr3	27343643	27343644	rs653465	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	3p24.1	SLC4A7	rs653465-?	0.54	5E-12		1.18	[1.12-1.23]	Illumina [1265548] (imputed)	N
794	chr3	27416012	27416013	rs4973768	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	3p24.1	SLC4A7	rs4973768-T	0.47	2E-30		1.1	[1.08-1.12]	Affymetrix, Illumina [~ 2600000] (imputed)	N
794	chr3	27416012	27416013	rs4973768	21263130	Fletcher O	2011-01-24	J Natl Cancer Inst	Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.	Breast cancer	2,839 European ancestry cases, 3,507 European ancestry controls	9,041 European ancestry cases, 8,980 European ancestry controls	3p24.1	SLC4A7	rs4973768-C	0.49	2E-8		1.14	[1.09-1.19]	Illumina [~ 296114]	N
794	chr3	27416012	27416013	rs4973768	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	3p24.1	SLC4A7	rs4973768-T	0.47	6E-7		1.16	[1.10-1.24]	Illumina [582886]	N
795	chr3	27537908	27537909	rs13082711	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	3p24.1	SLC4A7	rs13082711-T	0.78	2E-6		0.315	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
795	chr3	27537908	27537909	rs13082711	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	3p24.1	SLC4A7	rs13082711-T	0.78	4E-9		0.238	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
795	chr3	27537908	27537909	rs13082711	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	3p24.1	SLC4A7	rs13082711-T	0.80	5E-9	(Mean Arterial Pressure)	0.336	[0.22-0.45] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
795	chr3	27548899	27548900	rs820430	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	3p24.1	SLC4A7	rs820430-A	0.32	1E-12		0.76	[0.54-0.98] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
795	chr3	27548899	27548900	rs820430	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	3p24.1	SLC4A7	rs820430-A	0.32	1E-6				Affymetrix, Illumina [2485448] (imputed)	N
795	chr3	27548899	27548900	rs820430	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	3p24.1	SLC4A7	rs820430-A	0.32	8E-6		0.27	[0.15-0.39] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
796	chr3	27764622	27764623	rs3806624	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	3p24.1	EOMES	rs3806624-G	0.56	9E-9		1.08	[1.05-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
796	chr3	27764622	27764623	rs3806624	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	3p24.1	EOMES	rs3806624-G	0.46	3E-8	(EA)	1.08	[1.05-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
796	chr3	27764622	27764623	rs3806624	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	3p24.1	EOMES	rs3806624-G	0.45	1E-12		1.26	[1.18-1.34]	Illumina [296129]	N
797	chr3	27788779	27788780	rs11129295	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3p24.1	EOMES	rs11129295-A	NR	1E-9	(Conditioned on rs669607)	1.11	[1.09-1.12]	Illumina [465434]	N
799	chr3	28071443	28071444	rs669607	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3p24.1	intergenic	rs669607-C	NR	2E-15		1.13	[1.12-1.15]	Illumina [465434]	N
799	chr3	28079084	28079085	rs170934	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	3p24.1	EOMES	rs170934-T	0.48	2E-8		1.17	[NR]	Affymetrix, Illumina [2529394]	N
800	chr3	28206876	28206877	rs9310862	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	3p24.1	NR	rs9310862-G	0.496	4E-6	(Illicit drug use)			Illumina [527829]	N
804	chr3	28705763	28705764	rs7617877	21044948	Spencer CC	2010-11-02	Hum Mol Genet	Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.	Parkinson's disease	1,705 European ancestry cases, 5,175 European ancestry controls	1,039 European ancestry cases, 1,984 European ancestry controls	3p24.1	NR	rs7617877-A	0.36	3E-6		1.23	[1.13-1.33]	Illumina [532616]	N
805	chr3	28928859	28928860	rs2221154	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	3p24.1	intergenic	rs2221154-?	NR	3E-6		1.75	[1.39-2.22]	Illumina [2505093] (imputed)	N
805	chr3	28964800	28964801	rs4016429	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	3p24.1	LINC00693	rs4016429-C	0.0157	2E-6		4.564	[NR] unit decrease	Illumina [1216189] (imputed)	N
806	chr3	29047443	29047444	rs6790709	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	3p24.1	intergenic	rs6790709-?	NR	3E-6	(Additive model)	0.36	unit decrease	Illumina [542562]	N
807	chr3	29209150	29209151	rs6549915	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	3p24.1	MESTP4, RBMS3	rs6549915-T	0.444	9E-6		0.078	[0.043-0.113] cup size decrease	Illumina [7422970] (imputed)	N
808	chr3	29275645	29275646	rs4680719	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	3p24.1	intergenic	rs4680719-A	NR	3E-6		0.2301	unit increase	Illumina [5767231] (imputed)	N
808	chr3	29329019	29329020	rs9832625	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	3p24.1	RBMS3	rs9832625-?	0.08	3E-6	(Prostate cancer, rectal incontinence, univariable analysis)	0.07	[NR] unit increase	Illumina [2417493] (imputed)	N
810	chr3	29575462	29575463	rs1530057	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	3p24.1	NR	rs1530057-?	NR	3E-6		1.26	[NR]	Illumina [511919]	N
812	chr3	29853402	29853403	rs10510628	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Bone mineral density	Up to 1,141 individuals from 241 families	NA	3p24.1	RBMS3	rs10510628-?	NR	3E-6	(TRBMDm)			Affymetrix [70897]	N
814	chr3	30072306	30072307	rs1506297	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p24.1	NR	rs1506297-T	NR	7E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
816	chr3	30346967	30346968	rs10510634	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Fasting plasma glucose	1,027 individuals	NA	3p24.1	intergenic	rs10510634-?	NR	5E-6	(tFPG)			Affymetrix [70897]	N
816	chr3	30372052	30372053	rs7634533	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	3p24.1	RBMS3	rs7634533-?	NR	5E-6				Affymetrix, Illumina [~ 1400000] (imputed)	N
817	chr3	30462402	30462403	rs7640543	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	3p24.1	TGFBR2	rs7640543-A	0.32	1E-9		1.19	[1.13-1.26]	Illumina [1246388] (imputed)	N
817	chr3	30480084	30480085	rs6790925	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	3p24.1	TGFBR2	rs6790925-T	0.38	2E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 2300000] (imputed)	N
817	chr3	30495331	30495332	rs9862857	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio)	Up to 290 European ancestry cases	NA	3p24.1	intergenic	rs9862857-C	NR	6E-8		0.7386	[NR] unit decrease	Affymetrix [686595]	N
819	chr3	30682938	30682939	rs12493607	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	3p24.1	TGFBR2	rs12493607-C	0.35	2E-8		1.06	[1.03-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
819	chr3	30710242	30710243	rs3773643	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	3p24.1	TGFBR2	rs3773643-?	NR	2E-7	(MAPLTA)			Affymetrix [70897]	N
819	chr3	30718531	30718532	rs3773651	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		3p24.1	TGFBR2	rs3773651-?	NR	7E-6		2.15	[NR]	Illumina [up to 810372] (imputed)	N
819	chr3	30753572	30753573	rs6804368	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	3p24.1	GADL1	rs6804368-A	0.57	8E-21	(X-12244--N-acetylcarnosine)	0.022	[0.018-0.026] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
821	chr3	31040502	31040503	rs1506203	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	3p23	GADL1	rs1506203-G	0.849	8E-6		0.083	[0.048-0.118] unit decrease	Illumina [6150213] (imputed)	N
824	chr3	31445579	31445580	rs17027625	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	3p23	intergenic	rs17027625-?	NR	4E-6	(progression)			Illumina [NR]	N
827	chr3	31795569	31795570	rs1902341	20610895	Koriyama H	2010-07-02	J Atheroscler Thromb	Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population.	Peripheral artery disease	195 Japanese ancestry cases, 1,358 Japanese ancestry controls	699 Japanese ancestry cases, 1,540 Japanese ancestry controls	3p23	OSBPL10	rs1902341-G	0.397	5E-7		1.31	[1.18-1.46]	Perlegen [222285]	N
828	chr3	31967966	31967967	rs6810295	24281739	Boardman JD	2013-11-27	Demography	Is the gene-environment interaction paradigm relevant to genome-wide studies? The case of education and body mass index.	Body mass index (education interaction)	816 non-college graduate individuals, 1,061 college graduate individuals	NA	3p23	NR	rs6810295-?	NR	7E-6				Affymetrix [260402]	N
829	chr3	31981766	31981767	rs12630931	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	3p23	ZNF860, STT3B, OSBPL10, GPD1L, CMTM8	rs12630931-?	0.3	6E-6	(PD2)	1.89	[NR]	Illumina [~ 1400000] (imputed)	N
829	chr3	32062640	32062641	rs4955124	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p22.3	NR	rs4955124-T	NR	8E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
830	chr3	32240118	32240119	rs9825310	22004471	Frank J	2011-10-18	Addict Biol	Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.	Alcohol dependence	1,333 European ancestry male cases, 2,168 European ancestry male controls	NA	3p22.3	GPD1L	rs9825310-?	NR	8E-6		1.25	[1.14-1.38]	Illumina [463044]	N
831	chr3	32264990	32264991	rs4376071	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p22.3	NR	rs4376071-C	0.313983692931112	8E-6	(IGP16)	0.1605	[0.09-0.231] unit decrease	Illumina [~ 2500000] (imputed)	N
831	chr3	32329496	32329497	rs4380451	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	3p22.3	NR	rs4380451-?	0.73	4E-6		1.18	[NR]	Affymetrix [1769948] (imputed)	N
831	chr3	32347823	32347824	rs4627791	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	3p22.3	NR	rs4627791-?	NR	2E-6	(addtive)			Affymetrix [NR]	N
832	chr3	32378270	32378271	rs6776297	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	3p22.3	CMTM8	rs6776297-?	NR	5E-6				Illumina [990115]	N
832	chr3	32488533	32488534	rs12638540	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	3p22.3	CMTM7	rs12638540-G	0.043	3E-7	(EA)	1.53	[1.01-2.31]	Affymetrix [up to 2366858] (imputed)	N
833	chr3	32533009	32533010	rs7640978	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	3p22.3	CMTM6	rs7640978-T	0.09	1E-8		0.039	[NR] unit decrease	NR [NR] (imputed)	N
833	chr3	32533009	32533010	rs7640978	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	3p22.3	CMTM6	rs7640978-T	0.09	2E-8		0.038	[NR] unit decrease	NR [NR] (imputed)	N
835	chr3	32842100	32842101	rs9845475	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	3p22.3	intergenic	rs9845475-G	NR	4E-6	(later onset)			Perlegen [429981]	N
836	chr3	32929114	32929115	rs9310995	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	3p22.3	TRIM71	rs9310995-T	NR	4E-6	(FEV1)	0.023	[0.013-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
836	chr3	33015468	33015469	rs13314993	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	3p22.3	CCR4	rs13314993-C	0.46	3E-9		1.13	[1.08-1.17]	Illumina [292387]	N
836	chr3	33020034	33020035	rs4678680	21105107	Clifford RJ	2010-12-01	Hepatology	Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.	Hepatocellular carcinoma	180 Korean ancestry cases, 271 Korean ancestry controls	206 Korean ancestry cases, 416 East Asian ancestry controls,	3p22.3	GLB1	rs4678680-?	0.07	2E-7		2.27	[1.68-3.08]	Affymetrix [658897]	N
837	chr3	33065338	33065339	rs7613051	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	3p22.3	GLB1	rs7613051-A	0.453	6E-21		1.29	[1.22-1.36]	Illumina [606164]	N
844	chr3	34013204	34013205	rs7620363	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Non-substance related behavioral disinhibition	7,188 European ancestry individuals	NA	3p22.3	NR	rs7620363-A	0.35	9E-6		1.662	[NR] unit decrease	Illumina [527829]	N
846	chr3	34212165	34212166	rs6781182	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p22.3	PDCD6IP	rs6781182-T	0.29	3E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
846	chr3	34260091	34260092	rs145744974	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	3p22.3	PDCD6IP	rs145744974-A	0.99	4E-6	(Age 20-60 years)	0.2942	[0.17-0.42] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
851	chr3	34865596	34865597	rs559356	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	3p22.3	FECHP1	rs559356-C	0.473	3E-6	(Semantic Fluency)	2.0925	[1.22-2.96] unit increase	Affymetrix [> 371951] (imputed)	N
851	chr3	34925024	34925025	rs73070160	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	3p22.3	FECHP	rs73070160-T	0.14	3E-6		1.24	[NR]	Illumina [7659573] (imputed)	N
851	chr3	34962668	34962669	rs10514688	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	3p22.3	intergenic	rs10514688-?	NR	6E-6	(CB-PWV)			Affymetrix [70897]	N
853	chr3	35142510	35142511	rs11129640	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Entorhinal cortical thickness	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	3p22.3	ARPP-21	rs11129640-?	NR	6E-8		0.123	[NR] unit decrease	Illumina [478011]	N
856	chr3	35639825	35639826	rs17033506	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	3p22.3	intergenic	rs17033506-?	NR	4E-7				Affymetrix [786195]	N
859	chr3	35982129	35982130	rs6799705	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	3p22.3	ARPP-21	rs6799705-?	0.04563	2E-7	(PAL8)			Illumina [475971]	N
861	chr3	36211342	36211343	rs7623430	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	3p22.3	NR	rs7623430-G	NR	7E-6	(phenotype 1)	3.03	[NR]	Illumina [> 8000000] (imputed)	N
862	chr3	36409600	36409601	rs2605393	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	3p22.3	STAC	rs2605393-G		6E-6				Illumina [944512] (imputed)	N
864	chr3	36680098	36680099	rs950146	22704111	Hotaling JM	2012-06-13	J Urol	Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.	Erectile dysfunction in type 1 diabetes	125 European ancestry cases, 403 European ancestry controls	NA	3p22.2	STAC	rs950146-C	0.491	4E-6				Illumina [840354]	N
866	chr3	36842622	36842623	rs13072940	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	3p22.2	NR	rs13072940-A		9E-6	(Modelling analysis)	1.06	[1.03-1.08]	NR [1252901] (imputed)	N
866	chr3	36856029	36856030	rs9834970	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	3p22.2	TRANK1	rs9834970-?	NR	4E-7	(BP vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
866	chr3	36856029	36856030	rs9834970	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	3p22.2	TRANK1	rs9834970-?		1E-10	(SCZ or BP vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
866	chr3	36856029	36856030	rs9834970	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	3p22.2	NR	rs9834970-C	NR	2E-6	(5 degree of freedom test)	1.051	[1.03-1.07]	NR [1252901] (imputed)	N
866	chr3	36856029	36856030	rs9834970	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	3p22.2	TRANK1, LBA	rs9834970-?	NR	1E-7		1.22	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
866	chr3	36856029	36856030	rs9834970	22182935	Chen DT	2011-12-20	Mol Psychiatry	Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.	Bipolar disorder	5,568 European ancestry cases, 7,187 European ancestry controls, 1,000 Taiwanese ancestry cases, 1,000 Taiwanese ancestry controls	1,115 European ancestry cases, 2,728 European ancestry controls	3p22.2	TRANK1	rs9834970-C	NR	1E-12				Affymetrix, Illumina [748555]	N
866	chr3	36858582	36858583	rs75968099	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p22.2	NR	rs75968099-T	NR	2E-12		1.08	[NR]	Illumina [7158791] (imputed)	N
866	chr3	36858582	36858583	rs75968099	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	3p22.2	TRANK1	rs75968099-T	0.324	1E-13		1.085	[1.062-1.109]	Affymetrix, Illumina [9005918] (imputed)	N
866	chr3	36862979	36862980	rs4624519	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	3p22.2	NR	rs4624519-?	NR	2E-7		1.09	[1.05-1.12]	Affymetrix, Illumina [1252901] (imputed)	N
866	chr3	36864488	36864489	rs6550435	24618891	Muhleisen	2014-03-11	Nat Commun	Genome-wide association study reveals two new risk loci for bipolar disorder.	Bipolar disorder	9,747 European ancestry cases, 14,278 European ancestry controls	NA	3p22.2	TRANK1	rs6550435-G	NR	2E-8		1.13	[NR]	Illumina [2267487] (imputed)	N
866	chr3	36864488	36864489	rs6550435	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	3p22.2	intergenic	rs6550435-G	0.344	6E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [9871789]	N
866	chr3	36864488	36864489	rs6550435	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	3p22.2	LBA1	rs6550435-G	NR	9E-6		1.09	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
869	chr3	37234588	37234589	rs7631605	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal P-tau181p levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	3p22.2	intergenic	rs7631605-T	NR	1E-6	(MCI)			Illumina [498205]	N
871	chr3	37515826	37515827	rs197770	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	3p22.2	ITGA9	rs197770-?	NR	2E-8	(levels)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
871	chr3	37518544	37518545	rs189897	19478819	Ng CC	2009-05-29	J Hum Genet	A genome-wide association study identifies ITGA9 conferring risk of nasopharyngeal carcinoma.	Nasopharyngeal carcinoma	111 Malaysian Chinese ancestry cases, 260 Malaysian Chinese ancestry controls	168 Malaysian Chinese ancestry cases, 252 Malaysian Chinese ancestry controls	3p22.2	ITGA9	rs189897-A	0.09	7E-8		3.18	[1.94-5.21]	Illumina [533048]	N
871	chr3	37574023	37574024	rs267567	23139255	Butler AM	2012-11-08	Circ Cardiovasc Genet	Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.	PR interval	13,415 African American individuals	NA	3p22.2	ITGA9	rs267567-A	0.18	4E-11		2.73	[1.93-3.53] unit increase	Affymetrix, Illumina [2845108] (imputed)	N
871	chr3	37604011	37604012	rs9825420	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3p22.2	ITGA9	rs9825420-?	0.33	3E-8		3.0335	[2.272478-4.049382]	Illumina [859311]	N
873	chr3	37855113	37855114	rs11129773	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	3p22.2	NR	rs11129773-A	0.061	8E-6		17.899	[NR] unit increase	Illumina [527829]	N
874	chr3	37996476	37996477	rs9311171	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Prostate cancer	59 cases, 558 controls	NA	3p22.2	CTDSPL	rs9311171-?	NR	2E-6				Affymetrix [70897]	N
878	chr3	38438371	38438372	rs1858740	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p22.2	NR	rs1858740-C	NR	5E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
878	chr3	38442489	38442490	rs2070488	19389651	Smith JG	2009-02-15	Heart Rhythm	Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.	Electrocardiographic conduction measures	1,262 Kosraen individuals	NA	3p22.2	SCN5A	rs2070488-A	0.33	4E-6	(PR interval)	5.0	[2.84-7.16] ms decrease	Affymetrix [338049]	N
879	chr3	38589162	38589163	rs11129795	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	3p22.2	SCN5A	rs11129795-G	0.77	5E-10	(QRS complex)	8.24	[5.64-10.83] % s.d. decrease	Illumina [306060]	N
879	chr3	38589162	38589163	rs11129795	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	3p22.2	SCN5A	rs11129795-A	0.23	5E-14		1.27	[0.82-1.72] ms decrease	Affymetrix, Illumina [2557000] (imputed)	N
879	chr3	38592405	38592406	rs1805126	23463857	Ritchie MD	2013-03-05	Circulation	Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.	Electrocardiographic conduction measures	5,272 European ancestry indiviudals	40,407 European ancestry individuals	3p22.2	SCN5A	rs1805126-A	0.655	3E-20	(QRS duration - CHARGE)	0.6568	[NR] msec decrease	Illumina [528508]	N
879	chr3	38593392	38593393	rs12053903	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	3p22.2	SCN5A	rs12053903-T	0.72	1E-7	(PR interval)	6.59	[4.16-9.03] % s.d. decrease	Illumina [306060]	N
879	chr3	38593392	38593393	rs12053903	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	3p22.2	SCN5A	rs12053903-C	0.34	1E-14		1.23	[0.88-1.57] msec decrease	Affymetrix, Illumina [up to 2543686] (imputed)	N
879	chr3	38594972	38594973	rs7638909	19389651	Smith JG	2009-02-15	Heart Rhythm	Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.	Electrocardiographic conduction measures	1,262 Kosraen individuals	NA	3p22.2	SCN5A	rs7638909-G	0.40	2E-6	(PR interval)	4.8	[2.84-6.76] ms increase	Affymetrix [338049]	N
879	chr3	38599036	38599037	rs6793245	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	3p22.2	SCN5A, SCN10A	rs6793245-A	0.317	4E-27		1.12	[0.92-1.32] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
879	chr3	38624252	38624253	rs3922844	23139255	Butler AM	2012-11-08	Circ Cardiovasc Genet	Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.	PR interval	13,415 African American individuals	NA	3p22.2	SCN5A	rs3922844-T	0.58	5E-43		4.54	[3.89-5.19] unit decrease	Affymetrix, Illumina [2845108] (imputed)	N
879	chr3	38624252	38624253	rs3922844	21347284	Smith JG	2011-02-10	PLoS Genet	Genome-wide association studies of the PR interval in African Americans.	PR interval	6,247 African American individuals	2,022 African American individuals	3p22.2	SCN5A	rs3922844-C	0.41	3E-23		5.11	[4.11-6.11] unit increase	Affymetrix [2147483647] (imputed)	N
879	chr3	38633922	38633923	rs11708996	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	3p22.2	SCN5A, SCN10A	rs11708996-C	0.148	2E-11		0.92	[0.65-1.19] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
879	chr3	38633922	38633923	rs11708996	23872634	Bezzina CR	2013-07-21	Nat Genet	Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.	Brugada syndrome	312 European ancestry cases, 1,115 European ancestry controls	594 European ancestry cases, 806 European ancestry controls, 208 Japanese ancestry cases, 1,1016 Japanese controls	3p22.2	SCN5A	rs11708996-C	0.15	1E-14		1.73	[1.51-1.99]	Affymetrix [360149]	N
879	chr3	38633922	38633923	rs11708996	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	3p22.2	SCN5A	rs11708996-C	0.16	1E-16		0.79	[0.59-0.99] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
879	chr3	38633922	38633923	rs11708996	20062060	Pfeufer A	2010-01-10	Nat Genet	Genome-wide association study of PR interval.	PR interval	28,517 European ancestry individuals	NA	3p22.2	SCN5A	rs11708996-C	0.15	6E-26		3.04	[2.47-3.61] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
879	chr3	38648061	38648062	rs6599222	21347284	Smith JG	2011-02-10	PLoS Genet	Genome-wide association studies of the PR interval in African Americans.	PR interval	6,247 African American individuals	2,022 African American individuals	3p22.2	SCN5A	rs6599222-C	0.23	2E-8		3.4	[2.20-4.60] unit increase	Affymetrix [2147483647] (imputed)	N
879	chr3	38657898	38657899	rs11710077	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	3p22.2	SCN5A, SCN10A	rs11710077-T	0.209	1E-13		0.92	[0.68-1.16] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
879	chr3	38657898	38657899	rs11710077	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	3p22.2	SCN5A	rs11710077-T	0.21	6E-22		0.84	[0.66-1.02] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
880	chr3	38681393	38681394	rs6763048	23139255	Butler AM	2012-11-08	Circ Cardiovasc Genet	Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.	PR interval	13,415 African American individuals	NA	3p22.2	SCN5A	rs6763048-A	0.73	4E-12	(Conditional)	2.62	[1.88-3.36] unit increase	Affymetrix, Illumina [2845108] (imputed)	N
880	chr3	38715299	38715300	rs6599234	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	3p22.2	SCN5A, SCN10A	rs6599234-A	0.324	2E-11		0.7	[0.5-0.9] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
880	chr3	38719934	38719935	rs9851724	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	3p22.2	SCN5A, SCN10A	rs9851724-C	0.33	2E-20		0.66	[0.52-0.80] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
880	chr3	38723216	38723217	rs7633988	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	QRS duration	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	3p22.2	EXOG, SCN5A, SCN10A	rs7633988-T	0.29	2E-6		0.86	[0.51-1.21] unit decrease	Affymetrix [2100000] (imputed)	N
880	chr3	38766674	38766675	rs6795970	23463857	Ritchie MD	2013-03-05	Circulation	Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.	Electrocardiographic conduction measures	5,272 European ancestry indiviudals	40,407 European ancestry individuals	3p22.2	SCN10A	rs6795970-A	0.396	5E-27	(QRS duration - CHARGE)	0.7476	[NR] msec increase	Illumina [528508]	N
880	chr3	38766674	38766675	rs6795970	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	3p22.2	SCN10A	rs6795970-A	0.36	4E-9	(QRS duration)	5.17	[3.46-6.89] % s.d. increase	Illumina [306060]	N
880	chr3	38766674	38766675	rs6795970	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	3p22.2	SCN10A	rs6795970-A	0.36	1E-58	(PR interval)	14.81	[13.01-16.60] % s.d. increase	Illumina [306060]	N
880	chr3	38766674	38766675	rs6795970	20062061	Chambers JC	2010-01-10	Nat Genet	Genetic variation in SCN10A influences cardiac conduction.	Electrocardiographic traits	6,543 Indian Asian ancestry individuals	6,243 Indian Asian ancestry individuals, 5,370 European ancestry individuals	3p22.2	SCN10A	rs6795970-A	0.36	3E-15	(PR interval)	3.33	[2.51-4.15] ms increase	Illumina [303309]	N
880	chr3	38767314	38767315	rs6801957	25055868	Sano M	2014-07-23	Hum Mol Genet	Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.	Electrocardiographic traits	2,994 Japnese ancestry individuals	6,805 Korean ancestry individuals	3p22.2	SCN10A	rs6801957-T	0.218	3E-7	(PR)	3.012	[NR] unit increase	Illumina [~ 2500000]	N
880	chr3	38767314	38767315	rs6801957	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	3p22.2	SCN5A, SCN10A	rs6801957-T	0.403	1E-10		0.63	[0.43-0.83] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
880	chr3	38767314	38767315	rs6801957	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	PR segment	16,468 European ancestry individuals	NA	3p22.2	SCN5A, SCN10A	rs6801957-T	0.429	7E-41		2.935	[2.51-3.36] unit increase	Illumina [2300000] (imputed)	N
880	chr3	38767314	38767315	rs6801957	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	P wave duration	16,468 European ancestry individuals	NA	3p22.2	SCN5A, XYLB, SCN10A, ACVR2B, EXOG	rs6801957-T	0.43	8E-27		1.436	[1.17-1.70] unit increase	Illumina [2300000] (imputed)	N
880	chr3	38767314	38767315	rs6801957	23139255	Butler AM	2012-11-08	Circ Cardiovasc Genet	Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.	PR interval	13,415 African American individuals	NA	3p22.2	SCN10A	rs6801957-T	0.27	9E-9	(Conditional)	3.36	[2.22-4.50] unit increase	Affymetrix, Illumina [2845108] (imputed)	N
880	chr3	38767314	38767315	rs6801957	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	3p22.2	SCN10A	rs6801957-T	0.41	1E-28		0.77	[0.63-0.91] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
880	chr3	38770638	38770639	rs7433306	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	PR interval	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	3p22.2	EXOG, SCN5A, SCN10A	rs7433306-C	0.15	1E-14		4.33	[3.23-5.43] unit increase	Affymetrix [2100000] (imputed)	N
880	chr3	38774831	38774832	rs6800541	21041692	Denny JC	2010-11-01	Circulation	Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.	Atrioventricular conduction	2,334 European ancestry individuals	NA	3p22.2	SCN10A	rs6800541-C	0.41	5E-7		2.6	[1.62-3.70] ms increase	Illumina [514999]	N
880	chr3	38774831	38774832	rs6800541	20062060	Pfeufer A	2010-01-10	Nat Genet	Genome-wide association study of PR interval.	PR interval	28,517 European ancestry individuals	NA	3p22.2	SCN10A	rs6800541-C	0.40	2E-74		3.77	[3.37-4.17] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
880	chr3	38777553	38777554	rs10428132	23872634	Bezzina CR	2013-07-21	Nat Genet	Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.	Brugada syndrome	312 European ancestry cases, 1,115 European ancestry controls	594 European ancestry cases, 806 European ancestry controls, 208 Japanese ancestry cases, 1,1016 Japanese controls	3p22.2	SCN10A	rs10428132-T	0.41	1E-68		2.55	[2.30-2.84]	Affymetrix [360149]	N
881	chr3	38798835	38798836	rs6798015	21347284	Smith JG	2011-02-10	PLoS Genet	Genome-wide association studies of the PR interval in African Americans.	PR interval	6,247 African American individuals	2,022 African American individuals	3p22.2	SCN10A	rs6798015-C	0.14	2E-12		4.98	[3.61-6.35] unit increase	Affymetrix [2147483647] (imputed)	N
881	chr3	38843646	38843647	rs11717455	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	3p22.2	SCN10A	rs11717455-T	0.93	7E-6		1.4085		Illumina [2100739] (imputed)	N
881	chr3	38882518	38882519	rs4453791	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	3p22.2	XIRP1, WDR48, GORASP1, TTC21A, CSRNP1, SCN11A	rs4453791-C	0.13	9E-9	(Age 17)	0.23	[0.15-0.31] unit increase	Illumina [2293137] (imputed)	N
881	chr3	38886412	38886413	rs3923518	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	3p22.2	intergenic	rs3923518-A	0.25	8E-6		1.06	[1.03-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
882	chr3	39055316	39055317	rs883565	24065183	Armour JA	2013-09-25	Heredity (Edinb)	Genome-wide association study of handedness excludes simple genetic models.	Handedness	263 European ancestry left-handed individuals, 2,092 European ancestry right-handed individuals	NA	3p22.2	intergenic	rs883565-?	NR	3E-7				Illumina [2535688] (imputed)	N
884	chr3	39195963	39195964	rs2280630	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	3p22.2	AXUD1, TTC21A	rs2280630-T	0.32	3E-6	(PAR-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
884	chr3	39195963	39195964	rs2280630	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	3p22.2	AXUD1, TTC21A	rs2280630-T	0.32	2E-6	(PAR-dr)			Affymetrix, Illumina [NR] (imputed)	N
886	chr3	39475341	39475342	rs17038828	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p22.1	NR	rs17038828-C	0.979741981275078	8E-6	(IGP30)	0.56	[0.31-0.81] unit decrease	Illumina [~ 2500000] (imputed)	N
886	chr3	39513277	39513278	rs538867	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		3p22.1	MOBP	rs538867-?	0.03	1E-7		0.26	unit decrease	Illumina [NR] (imputed)	N
886	chr3	39523002	39523003	rs1768208	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 3,111 controls	67 cases, 457 controls	3p22.1	MOBP	rs1768208-?	NR	2E-7		1.71	[NR]	Illumina [533898] (imputed)	N
886	chr3	39523002	39523003	rs1768208	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	3p22.1	MOBP	rs1768208-?	0.71	5E-17		1.37	[1.28-1.49]	Illumina [531451]	N
886	chr3	39553787	39553788	rs816488	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	3p22.1	MOBP	rs816488-?	0.04479	4E-6	(IED)			Illumina [475971]	N
886	chr3	39555579	39555580	rs864643	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	3p22.1	MOBP	rs864643-?	NR	1E-8				Affymetrix [504219]	N
888	chr3	39749592	39749593	rs9832461	20197096	Stein JL	2010-03-01	Neuroimage	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.	Brain structure (temporal lobe volume)	173 European ancestry Alzheimer's disease cases, 361 European ancestry Mild Cognitive Impairment cases, 208 European ancestry controls	NA	3p22.1	intergenic	rs9832461-A	0.24	4E-6		3785.6	[NR] unit increase	Illumina [546314]	N
889	chr3	39847071	39847072	rs17079534	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	3p22.1	MYRIP	rs17079534-A	0.005	2E-7		4.07	[2.40-6.87]	Affymetrix [444044]	N
890	chr3	39992222	39992223	rs112364629	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p22.1	NR	rs112364629-?	NR	6E-7		0.4197	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
890	chr3	40008633	40008634	rs9985399	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	3p22.1	MYRIP	rs9985399-T	0.05	9E-6	(simple RT)	0.26	[0.14-0.38] unit decrease	Illumina [~ 610000]	N
890	chr3	40096617	40096618	rs6599077	17903308	Gottlieb DJ	2007-09-19	BMC Med Genet	Genome-wide association of sleep and circadian phenotypes.	Sleep-related phenotypes	up to 738 individuals from 203 families	NA	3p22.1	MYRIP	rs6599077-?	NR	1E-7	(Sleep duration)			Affymetrix [70897]	N
897	chr3	40924961	40924962	rs35360328	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	3p22.1	CTNNB1	rs35360328-A	0.16	3E-9		1.14	[1.09-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
897	chr3	40924961	40924962	rs35360328	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	3p22.1	CTNNB1	rs3536032-A	0.16	2E-8	(EA)	1.14	[1.09-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
898	chr3	41123734	41123735	rs10490823	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (hip)	6,865 European ancestry individuals	8,510 European ancestry individuals	3p22.1	NR	rs10490823-G	0.46	9E-6		0.06	[0.03-0.09] s.d. decrease	Illumina [305051]	N
898	chr3	41128563	41128564	rs430727	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	3p22.1	CTNNB1	rs430727-T	0.48	4E-25	(FNBMD)	0.06	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
898	chr3	41137671	41137672	rs87938	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	3p22.1	CTNNB1	rs87938-A	0.45	8E-10		0.07	[0.05-0.09] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
903	chr3	41786008	41786009	rs6599175	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		3p22.1	NR	rs6599175-G	0.16	1E-9	(HD vs. controls)	1.48	[1.30-1.68]	Illumina [414804]	N
904	chr3	41828299	41828300	rs73071352	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	3p22.1	ULK4	rs73071352-G	NR	3E-8		0.25	[NR] unit increase	Illumina [12100000] (imputed)	N
904	chr3	41828299	41828300	rs73071352	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	3p22.1	ULK4	rs73071352-G	0.14	5E-7		0.24	[NR] unit increase	Illumina [12100000] (imputed)	N
904	chr3	41877413	41877414	rs3774372	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	3p22.1	ULK4	rs3774372-T	0.78	8E-7	(Pulse Pressure)	0.298	[0.18-0.42] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
904	chr3	41912650	41912651	rs9815354	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Diastolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	3p22.1	ULK4	rs9815354-A	0.17	3E-9		0.49	[0.33-0.65] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
904	chr3	41925397	41925398	rs1052501	22120009	Broderick P	2011-11-27	Nat Genet	Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.	Multiple myeloma	1,675 European ancestry cases, 5,903 European ancestry controls	169 European ancestry cases, 927 European ancestry controls	3p22.1	ULK4	rs1052501-G	0.16	2E-8		1.32	[1.20-1.45]	Illumina [422839]	N
905	chr3	41987919	41987920	rs1717027	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	3p22.1	ULK4	rs1717027-T	0.64	5E-13	(DBP)	0.49	[0.29-0.69] unit increase	Affymetrix, Illumina [~ 2420000] (imputed)	N
905	chr3	41996135	41996136	rs2272007	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		3p22.1	NR	rs2272007-A	0.16	2E-9	(HD vs. controls)	1.47	[1.30-1.67]	Illumina [414804]	N
906	chr3	42093421	42093422	rs1498095	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p22.1	TRAK1	rs1498095-T	0.91	8E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
907	chr3	42270680	42270681	rs7626019	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	3p22.1	intergenic	rs7626019-T	0.2287	8E-6	(Ordinal II)	0.2353	[0.13-0.34] unit increase	Affymetrix, Illumina [NR] (imputed)	N
907	chr3	42299869	42299870	rs8192472	24348519	Namjou B	2013-12-03	Front Genet	EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.	Body mass index	up to 2,860 European ancestry children	NA	3p22.1	CCK	rs8192472-A	0.37	1E-6		4.85	[NR] z score decrease	Affymetrix, Illumina [up to 583824] (imputed)	N
907	chr3	42303073	42303074	rs4377469	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	3p22.1	CCK	rs4377469-T	0.69	2E-7		0.039	[0.025-0.053] unit increase	Illumina [2178018] (imputed)	N
908	chr3	42448470	42448471	rs2286720	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	3p22.1	LYZL4	rs2286720-?	0.07	1E-6	(olanzapine)			Affymetrix [492900]	N
909	chr3	42529081	42529082	rs11718502	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	3p22.1	NR	rs11718502-T	NR	3E-6	(AA)	0.05767	(0.03365-0.08169) mg/dl increase	Illumina [up to 509150]	N
909	chr3	42571545	42571546	rs417387	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	3p22.1	VIPR1	rs417387-?		3E-6		0.353	[NR] unit decrease	Illumina [5970354] (imputed)	N
911	chr3	42808070	42808071	rs339665	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	3p22.1	CCDC13	rs339665-T	0.95	6E-6	(Age 20-81 years)	0.4063	[0.23-0.58] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
912	chr3	42894426	42894427	rs10865924	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	3p22.1	CCDC13, HIGD1A, CCBP2, CYP8B1, ZNF662, KRBOX1, FAM198A	rs10865924-G	0.3018	3E-6		1.84	[1.59-2.09]	Illumina [8809853] (imputed)	N
912	chr3	42906115	42906116	rs2228467	25340798	Kauwe JS	2014-10-23	PLoS Genet	Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.	Cerebrospinal fluid levels of Alzheimer's disease-related proteins	574 individuals	NA	3p22.1	CCBP2	rs2228467-G	NR	4E-18	(Monocyte chemotactic protein 1)			Illumina [5815690] (imputed)	N
912	chr3	42906115	42906116	rs2228467	23314186	Crosslin DR	2013-03-03	Hum Mol Genet	Genetic variation associated with circulating monocyte count in the eMERGE Network.	Monocyte count	9,849 European ancestry individuals, 894 African ancestry individuals, 271 individuals	NA	3p22.1	CCBP2	rs2228467-G	0.06	2E-7		0.3	unit increase	Illumina [NR]	N
912	chr3	42907111	42907112	rs2228468	23314186	Crosslin DR	2013-03-03	Hum Mol Genet	Genetic variation associated with circulating monocyte count in the eMERGE Network.	Monocyte count	9,849 European ancestry individuals, 894 African ancestry individuals, 271 individuals	NA	3p22.1	CCBP2	rs2228468-C	0.36	5E-7		0.14	unit decrease	Illumina [NR]	N
912	chr3	42909159	42909160	rs3919627	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p22.1	CCBP2, CCDC13, HIGD1A, FAM198A	rs3919627-G	0.353	2E-7	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
914	chr3	43230722	43230723	rs17075286	21057379	Curtis D	2010-11-04	Psychiatr Genet	Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.	Bipolar disorder and schizophrenia	506 European ancestry bipolar 1 disorder cases, 523 European ancestry schizophrenia cases, 505 European ancestry controls	NA	3p22.1	C3orf39	rs17075286-?	NR	8E-7				Affymetrix [302482]	N
915	chr3	43297688	43297689	rs6767019	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p22.1	SNRK	rs6767019-C	0.085	9E-6	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
916	chr3	43467894	43467895	rs7650267	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p22.1	CCDC13, CCBP2, HIGD1A, SNRK, FAM198A, ANO10	rs7650267-G	0.093	2E-7	(Eotaxin )	0.04	[NR] pg/mL increase	Illumina [899892]	N
919	chr3	43785573	43785574	rs75594032	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	3p21.33	ABHD5	rs75594032-?	NR	4E-10	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
921	chr3	44077040	44077041	rs7619427	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p21.33	NR	rs7619427-G	NR	9E-7		1.0869565	[NR]	Illumina [7158791] (imputed)	N
923	chr3	44327147	44327148	rs184952719	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3p21.31	NR	rs184952719-?	NR	7E-6	(Native Hawaiian)	1.2616	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
923	chr3	44333323	44333324	rs13323323	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p21.31	NR	rs13323323-G	0.732786566399287	4E-6	(IGP28)	0.1593	[0.091-0.227] unit increase	Illumina [~ 2500000] (imputed)	N
930	chr3	45300604	45300605	rs33794	25044411	Liao SY	2014-07-08	Genet Epidemiol	Genome-wide association and network analysis of lung function in the Framingham Heart Study.	Forced expiratory volume in 1 second	2,698 European ancestry individuals	NA	3p21.31	intergenic	rs33794-A	0.4367	6E-6		55.9	[NR] unit decrease	Affymetrix [300895]	N
930	chr3	45330050	45330051	rs112627313	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p21.31	NR	rs112627313-A	NR	4E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
931	chr3	45379776	45379777	rs854216	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	3p21.31	TMEM158, LARS2	rs854216-?	NR	5E-7	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
931	chr3	45384682	45384683	rs146692665	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	3p21.31	EXOSC7, KIF15, LARS2, LARS2-AS1, LIMD1, LIMD1-AS1, LZTFL1, MIR564, Mir_720, SACM1L, SLC6A20, TGM4, TMEM158, TMEM42, TRNA_Arg, ZDHHC3, BC101287, CDCP1, CLEC3B	rs146692665-T	0.0053	3E-6		2.17	[1.45-3.24]	Illumina [7300000] (imputed)	N
933	chr3	45731450	45731451	rs2742417	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	3p21.31	SACM1L	rs2742417-T	0.49	5E-7	(Bupropion, Sexual side effects)			Affymetrix [421789]	N
934	chr3	45809272	45809273	rs4299518	25310821	Kim JH	2014-10-13	PLoS One	A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.	Hirschsprung disease	123 Korean ancestry cases, 432 Korean ancestry controls	NA	3p21.31	SLC6A20	rs4299518-?	NR	3E-6	(Conditioned on rs2435357, rs1800860, rs7078220 and rs16879552)	20.0	[2.78-100.00]	Illumina [757260]	N
934	chr3	45809328	45809329	rs4327428	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	3p21.31	SLC6A20	rs4327428-A	0.11	3E-12	(X-11315)	0.031	[0.023-0.039] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
934	chr3	45814093	45814094	rs17279437	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	3p21.31	SLC6A20	rs17279437-A	0.1	2E-35	(X-11315/pyroglutamine)	0.094	[0.078-0.11] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
934	chr3	45814093	45814094	rs17279437	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	3p21.31	SLC6A20	rs17279437-A	0.1	1E-20	(pyroglutamine)	0.059	[0.047-0.071] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
934	chr3	45814093	45814094	rs17279437	21572414	Suhre K	2011-05-15	Nat Genet	A genome-wide association study of metabolic traits in human urine.	Urinary metabolites	862 European ancestry male individuals	1,862 European ancestry individuals	3p21.31	SLC6A20	rs17279437-A	0.115	3E-19	(Alanine/N,N-dimethylglycine ratio)			Affymetrix [645249]	N
934	chr3	45817417	45817418	rs758386	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted TNF-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	3p21.31	SLC6A20	rs758386-A		2E-7	(AA)			Illumina [NR]	N
937	chr3	46205685	46205686	rs7616215	23291587	Kirino Y	2013-01-06	Nat Genet	Genome-wide association analysis identifies new susceptibility loci for Beh&#x000e7;et's disease and epistasis between HLA-B*51 and ERAP1.	Behcet's disease	435 Turkish uveitis cases, 780 Turkish without uveitis cases, 1,278 Turkish controls	355 Turkish uveitis cases, 483 Turkish without uveitis cases, 601 Turkish controls, up to 612 Japanese ancestry cases, up to 740 Japanese ancestry controls	3p21.31	CCR1, CCR3	rs7616215-C	0.654	4E-13		1.39	[1.27-1.52]	Illumina [779465] (imputed)	N
937	chr3	46235200	46235201	rs13098911	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	3p21.31	CCRL2, CCR5, CCR9, CCR1, CCR2, CCR3	rs13098911-A	0.10	3E-17		1.3	[1.23-1.39]	Illumina [292387]	N
937	chr3	46250651	46250652	rs3181077	25986216	Toyoda H	2015-05-15	Brain Behav Immun	A polymorphism in CCR1/CCR3 is associated with narcolepsy.	Narcolepsy with cataplexy	409 Japanese ancestry cases, 1,562 Japanese ancestry controls	240 Japanese ancestry cases, 869 Japanese ancestry controls	3p21.31	CCR1, CCR3	rs3181077-T	0.870	6E-6		1.63	[1.32-2.02]	Affymetrix [525196]	N
938	chr3	46281743	46281744	rs13096142	24999842	Garner C	2014-07-07	PLoS One	Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.	Celiac disease	1,550 European ancestry cases, 3,084 European ancestry controls	NA	3p21.31	CCR3, CCR2	rs13096142-?		4E-8		1.3	[1.18-1.43]	Illumina [517345]	N
938	chr3	46282390	46282391	rs12636651	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p21.31	CCR3, CCR2	rs12636651-G	0.403	7E-9	(MCP1 )	0.05	[NR] pg/mL increase	Illumina [899892]	N
938	chr3	46282390	46282391	rs12636651	23017229	Voruganti VS	2012-09-24	Cytokine	Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children.	Monocyte chemoattractant protein-1	815 Hispanic children	NA	3p21.31	CCR3	rs12636651-?	NR	7E-9				Illumina [NR]	N
938	chr3	46339811	46339812	rs9990343	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	3p21.31	intergenic	rs9990343-?	0.48	4E-7				Illumina [448293]	N
938	chr3	46352383	46352384	rs6441961	18311140	Hunt KA	2008-03-02	Nat Genet	Newly identified genetic risk variants for celiac disease related to the immune response.	Celiac disease	767 European ancestry cases, 1,422 European ancestry controls	1,643 European ancestry cases, 3,406 European ancestry controls	3p21.31	CCR1, CCR3	rs6441961-A	0.30	3E-7		1.21	[1.13-1.30]	Illumina [310605]	N
939	chr3	46428189	46428190	rs6441975	21502085	Troyer JL	2011-05-01	J Infect Dis	Genome-wide association study implicates PARD3B-based AIDS restriction.	AIDS progression	755 European ancestry seroconverter cases	NA	3p21.31	CCRL2	rs6441975-?	0.31	5E-6		1.483	[NR]	Affymetrix [700022]	N
939	chr3	46449863	46449864	rs6808835	25340798	Kauwe JS	2014-10-23	PLoS Genet	Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.	Cerebrospinal fluid levels of Alzheimer's disease-related proteins	574 individuals	NA	3p21.31	CCRL2, CCR5, CCR2, LTF, CCR3	rs6808835-G	NR	2E-13	(Macrophage Inflammatory protein-1 beta)			Illumina [5815690] (imputed)	N
939	chr3	46451679	46451680	rs1015164	21502085	Troyer JL	2011-05-01	J Infect Dis	Genome-wide association study implicates PARD3B-based AIDS restriction.	AIDS progression	755 European ancestry seroconverter cases	NA	3p21.31	LTF	rs1015164-?	0.31	9E-6		1.46	[NR]	Affymetrix [700022]	N
939	chr3	46457411	46457412	rs113010081	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.31	FLJ78302, LTF, CCR1, CCR2, CCR3, CCR5	rs113010081-G	0.1073	9E-10	(EA)	1.1354866	[1.09-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
939	chr3	46457411	46457412	rs113010081	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.31	FLJ78302, LTF, CCR1, CCR2, CCR3, CCR5	rs113010081-G	0.1073	4E-8	(EA)	1.0966138	[1.06-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
940	chr3	46650992	46650993	rs2176862	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-42)	3,528 European ancestry individuals	NA	3p21.31	LOC100132146	rs2176862-T	0.054	4E-6		0.15	[0.091-0.209] unit increase	Illumina [2316178] (imputed)	N
944	chr3	47061182	47061183	rs2290547	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	3p21.31	SETD2	rs2290547-A	0.2	4E-9		0.03	[NR] unit decrease	NR [NR] (imputed)	N
946	chr3	47388946	47388947	rs8180040	23350875	Fernandez-Rozadilla C	2013-01-26	BMC Genomics	A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.	Colorectal cancer	882 European ancestry cases, 473 European ancestry controls	1,436 European ancestry cases, 1,780 European ancestry controls	3p21.31	NR	rs8180040-?	NR	2E-6		1.28	[1.15-1.41]	Affymetrix [674718]	N
947	chr3	47544002	47544003	rs17784882	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	3p21.31	C3ORF75	rs17784882-A	0.396	3E-8		0.54	[0.34-0.74] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
950	chr3	47927483	47927484	rs319690	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	3p21.31	MAP4	rs319690-T	0.51	3E-8	(Mean Arterial Pressure)	0.297	[0.20-0.40] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
954	chr3	48487047	48487048	rs730566	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	3p21.31	NR	rs730566-?	NR	7E-6		1.27	[NR]	Illumina [NR] (imputed)	N
954	chr3	48487337	48487338	rs9876781	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	3p21.31	RP11-24C3.2	rs9876781-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
955	chr3	48507574	48507575	rs3135940	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p21.31	TREX1	rs3135940-A	0.045	6E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
956	chr3	48681052	48681053	rs9868809	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.31	NR	rs9868809-A	0.1036	3E-13	(EA)	1.1570203	[1.12-1.2]	Affymetrix, Illumina [~ 9000000] (imputed)	N
956	chr3	48681052	48681053	rs9868809	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.31	NR	rs9868809-A	0.1036	8E-18	(EA)	1.14707	[1.12-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
956	chr3	48681052	48681053	rs9868809	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.31	NR	rs9868809-A	0.1036	1E-9	(EA)	1.1240871	[1.09-1.16]	Affymetrix, Illumina [~ 9000000] (imputed)	N
956	chr3	48735705	48735706	rs11719291	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	3p21.31	IP6K2	rs11719291-?	NR	3E-6		0.04	[0.023-0.057] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
960	chr3	49210731	49210732	rs7617480	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	3p21.31	KLHDC8B	rs7617480-A	0.22	3E-8		2.4	[1.62-3.18] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
960	chr3	49228500	49228501	rs4541435	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.31	NR	rs4541435-A	0.01341	9E-6	(EA)	1.2494621	[1.15-1.35]	Affymetrix, Illumina [~ 9000000] (imputed)	N
962	chr3	49453833	49453834	rs6997	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	3p21.31	TCTA, AMT, RHOA, NICN1	rs6997-?	NR	8E-6		0.0267	[0.015-0.038] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
962	chr3	49510930	49510931	rs7647973	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3p21.31	WDR6, UBA7	rs7647973-A	0.26	1E-16		0.05	[0.038-0.062] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
962	chr3	49513318	49513319	rs142316462	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3p21.31	NR	rs142316462-?	NR	3E-6	(EA)	0.6756	[0.4-0.96] unit increase	Illumina [up to 11892802] (imputed)	N
964	chr3	49678650	49678651	rs4283605	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	3p21.31	BSN	rs4283605-?	NR	5E-6		0.0296	[0.017-0.042] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
964	chr3	49697458	49697459	rs9836291	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.31	NR	rs9836291-?	NR	1E-52	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
964	chr3	49701982	49701983	rs9858542	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	3p21.31	MST1	rs9858542-?	NR	7E-9				Affymetrix [NR]	N
964	chr3	49701982	49701983	rs9858542	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	3p21.31	MST1, BSN	rs9858542-A	0.28	4E-8		1.09	[0.96-1.24]	Affymetrix [469557]	N
964	chr3	49701982	49701983	rs9858542	17554261	Parkes M	2007-06-06	Nat Genet	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.	Crohn's disease	1,748 cases, 2,938 controls	1,182 European ancestry cases, 2,024 European ancestry controls	3p21.31	MST1	rs9858542-?	0.29	5E-8		1.17	[1.14-1.31]	Affymetrix [see WTCCC]	N
964	chr3	49719728	49719729	rs9822268	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	3p21.31	UBA7, MST1, APEH, AMIGO3, GMPPB, BSN	rs9822268-A	0.30	2E-17		1.21	[1.16-1.26]	Affymetrix, Illumina [~ 1100000] (imputed)	N
964	chr3	49721531	49721532	rs3197999	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.31	NR	rs3197999-A	0.2812	2E-37	(EA)	1.1865767	[1.16-1.21]	Affymetrix, Illumina [~ 9000000] (imputed)	N
964	chr3	49721531	49721532	rs3197999	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.31	NR	rs3197999-A	0.2812	2E-33	(EA)	1.1677914	[1.14-1.19]	Affymetrix, Illumina [~ 9000000] (imputed)	N
964	chr3	49721531	49721532	rs3197999	25082827	Julia A	2014-07-31	Hum Mol Genet	A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.	Ulcerative colitis	up to 7,483 European ancestry cases, up to 21,211 European ancestry controls	1,073 European ancestry cases, 1,279 European ancestry controls	3p21.31	PFKFB4, MST1R, UCN2, GPX1, IP6K2, BSN, IP6K1, USP4, MST1	rs3197999-?	NR	8E-7	(Southern European)	1.38	[1.21-1.56]	Illumina [546271]	N
964	chr3	49721531	49721532	rs3197999	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	3p21.31	PFKFB4, MST1R, UCN2, IP6K2, MST1, IP6K1, GPX1, USP4, BSN	rs3197999-A	0.296	1E-47		1.18	[1.144-1.216]	Affymetrix, Illumina [1230000] (imputed)	N
964	chr3	49721531	49721532	rs3197999	21151127	Melum E	2010-12-12	Nat Genet	Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.	Primary sclerosing cholangitis	715 European ancestry cases, 2,962 European ancestry controls	1,025 European ancestry cases, 2,174 European ancestry controls	3p21.31	MST1	rs3197999-?	0.28	1E-16		1.39	[1.24-1.56]	Affymetrix [2466182] (imputed)	N
964	chr3	49721531	49721532	rs3197999	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	3p21.31	MST1, GPX1, BSN	rs3197999-A	0.297	6E-17		1.22	[1.16-1.27]	Affymetrix, Illumina [953241] (imputed)	N
964	chr3	49721531	49721532	rs3197999	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	3p21.31	MST1	rs3197999-T	NR	4E-9		1.21	[NR]	Illumina [266047]	N
964	chr3	49721531	49721532	rs3197999	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	3p21.31	MST1	rs3197999-A	0.27	1E-12		1.2	[NR]	Affymetrix, Illumina [635547] (imputed)	N
964	chr3	49731860	49731861	rs9858213	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	3p21.31	intergenic	rs9858213-T	0.288	5E-9		0.028	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
966	chr3	49971513	49971514	rs7613875	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p21.31	MON1A	rs7613875-A	0.531	5E-7		0.016	[0.0095-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
966	chr3	49971513	49971514	rs7613875	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p21.31	MON1A	rs7613875-A	0.53	7E-7	(EA)	0.016	[0.0095-0.0221] kg/m2 increase	Affymetrix, Illumina [2550021]	N
966	chr3	49971513	49971514	rs7613875	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p21.31	MON1A	rs7613875-A	0.53	1E-6	(EA, men)	0.021	[0.012-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
967	chr3	50093208	50093209	rs6762477	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3p21.31	WDR6, UBA7	rs6762477-G	0.44	8E-12		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
967	chr3	50093208	50093209	rs6762477	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	3p21.31	RBM6	rs6762477-G	0.44	2E-8		2.5	[1.72-3.28] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
967	chr3	50129398	50129399	rs2013208	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	3p21.31	RBM5	rs2013208-T	0.5	9E-12		0.025	[NR] unit increase	NR [NR] (imputed)	N
969	chr3	50352199	50352200	rs11130248	20711176	Nakashima M	2010-08-15	Nat Genet	A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.	Keloid	178 Japanese ancestry cases, 906 Japanese ancestry controls	621 Japanese ancestry cases, 2,271 Japanese ancestry controls	3p21.31	NR	rs11130248-?	0.52	5E-7		1.34	[1.19-1.49]	Illumina [452038]	N
974	chr3	51071712	51071713	rs13088462	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3p21.2	DOCK3	rs13088462-T	0.941	8E-18		0.059	[0.045-0.073] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
974	chr3	51071712	51071713	rs13088462	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3p21.2	DOCK3	rs13088462-T	0.94	4E-10		0.052	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
976	chr3	51379273	51379274	rs1031925	24980573	Song F	2014-06-30	Carcinogenesis	Identification of a melanoma susceptibility locus and somatic mutation in TET2.	Melanoma	494 European ancestry cases, 5,628 European ancestry controls	5,383 European ancestry cases, 13,033 European ancestry controls	3p21.2	DOCK3	rs1031925-?		8E-6		1.15	[1.08-1.22]	Affymetrix, Illumina [1579307] (imputed)	N
981	chr3	51917014	51917015	rs1605070	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3p21.2	IQCF5	rs1605070-?	0.14	2E-9		3.9462	[2.78601-5.589479]	Illumina [859311]	N
983	chr3	52279593	52279594	rs7618915	22182935	Chen DT	2011-12-20	Mol Psychiatry	Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.	Bipolar disorder	5,568 European ancestry cases, 7,187 European ancestry controls, 1,000 Taiwanese ancestry cases, 1,000 Taiwanese ancestry controls	1,115 European ancestry cases, 2,728 European ancestry controls	3p21.2	intergenic	rs7618915-G	NR	3E-10				Affymetrix, Illumina [748555]	N
983	chr3	52287467	52287468	rs11717383	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p21.2	NR	rs11717383-G	NR	3E-9		1.0638298	[NR]	Illumina [7158791] (imputed)	N
984	chr3	52338851	52338852	rs9311474	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	3p21.1	DNAH1	rs9311474-?	NR	9E-6	(Alpha power, Cz)	0.094	[0.053-0.135] unit increase	Illumina [527829]	N
984	chr3	52393441	52393442	rs2306864	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p21.1	NR	rs2306864-G	NR	10E-7		1.0869565	[NR]	Illumina [7158791] (imputed)	N
985	chr3	52506425	52506426	rs6784615	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	3p21.1	NISCH, STAB1	rs6784615-T	0.94	4E-10		0.04	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
985	chr3	52532117	52532118	rs13326165	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	3p21.1	STAB1	rs13326165-A	0.21	9E-11		0.029	[NR] unit increase	NR [NR] (imputed)	N
986	chr3	52566064	52566065	rs4282054	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	3p21.1	NT5DC2, STAB1	rs4282054-?	NR	5E-6		0.0255	[0.015-0.036] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
986	chr3	52567013	52567014	rs12489828	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	NT5DC2	rs12489828-T	0.5488	7E-11	(EA)	0.0227	[0.016-0.03] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52567013	52567014	rs12489828	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	NT5DC2	rs12489828-T	0.5486	3E-10	(EA, women)	0.0294	[0.02-0.038] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52567013	52567014	rs12489828	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	NT5DC2	rs12489828-T	0.5425	1E-9	(women)	0.0277	[0.019-0.037] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52567013	52567014	rs12489828	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	NT5DC2	rs12489828-T	0.5409	3E-10		0.0215	[0.015-0.028] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52584786	52584787	rs2251219	20081856	McMahon FJ	2010-01-17	Nat Genet	Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1.	Major mood disorders	6,686 European ancestry cases, 9,068 European ancestry controls	1,930 European ancestry cases, 2,747 European ancestry controls	3p21.1	PBRM1	rs2251219-?	0.59	2E-9		1.14	[1.09-1.18]	Affymetrix, Illumina, Perlegen [~ 2100000] (imputed)	N
986	chr3	52622085	52622086	rs2590838	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	3p21.1	GNL3	rs2590838-G	0.51	2E-13		0.03	[0.022-0.038] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
986	chr3	52637485	52637486	rs2276824	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	PBRM1	rs2276824-C	0.4342	3E-11	(EA)	0.0236	[0.017-0.031] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52637485	52637486	rs2276824	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	PBRM1	rs2276824-C	0.4332	7E-11		0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52637485	52637486	rs2276824	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	PBRM1	rs2276824-C	0.4322	4E-9	(EA, women)	0.028	[0.019-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52637485	52637486	rs2276824	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	PBRM1	rs2276824-C	0.4283	1E-8	(women)	0.0265	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52649747	52649748	rs13083798	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	PRBM1	rs13083798-A	0.4929	7E-11		0.0218	[0.015-0.028] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52649747	52649748	rs13083798	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	PRBM1	rs13083798-A	0.4903	4E-11	(EA)	0.0227	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52649747	52649748	rs13083798	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	PRBM1	rs13083798-A	0.4899	2E-9	(women)	0.0268	[0.018-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
986	chr3	52649747	52649748	rs13083798	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p21.1	PRBM1	rs13083798-A	0.4894	5E-10	(EA, women)	0.0283	[0.019-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
987	chr3	52718279	52718280	rs10865974	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	3p21.1	GNL3, PBRM1	rs10865974-?	NR	2E-6		1.19	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
987	chr3	52720079	52720080	rs1108842	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	3p21.1	GNL3	rs1108842-C	0.50	1E-13		0.03	[0.022-0.038] unit increase	Affymetrix, Illumina [NR] (imputed)	N
987	chr3	52721304	52721305	rs11177	22763110	Loughlin	2012-07-03	Lancet	Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.	Osteoarthritis	7,410 European ancestry cases, 11,009 European ancestry controls	7,473 European ancestry cases, 42,938 European ancestry controls	3p21.1	GNL3, GLT8D1	rs11177-A	0.38	5E-9		1.09	[1.06-1.12]	Illumina [485491]	N
987	chr3	52733105	52733106	rs6765687	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	3p21.1	NR	rs6765687-T		5E-6	(Modelling analysis)	1.07	[1.04-1.11]	NR [1252901] (imputed)	N
987	chr3	52815904	52815905	rs2710323	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p21.1	ITIH1	rs2710323-C	0.491	9E-6		0.013	[0.0073-0.0187] kg/m2 increase	Affymetrix, Illumina [2550021]	N
987	chr3	52815904	52815905	rs2710323	25173105	Gharahkhani P	2014-08-31	Nat Genet	Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,155 European ancestry cases, 1,922 European ancestry controls	3,548 European ancestry cases, 9,496 European ancestry controls	3p21.1	ITIH1	rs2710323-T	0.42	5E-6		1.14	[NR]	Illumina [7594768] (imputed)	N
987	chr3	52815904	52815905	rs2710323	24166486	Sleiman P	2013-10-29	Sci Rep	GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.	Schizophrenia, schizoaffective disorder or bipolar disorder	11,985 European, African American, Asian, other and unknown ancestry schizophrenia cases, 377 European, African American, Asian, other and unknown ancestry schizoaffective disorder cases, 1,032 bipolar disorder cases, 34,676 European, African American, Asian, other and unknown ancestry controls	2652 individuals	3p21.1	ITIH1	rs2710323-?	0.466	3E-8				Affymetrix, Illumina [NR] (imputed)	N
987	chr3	52821010	52821011	rs1042779	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	3p21.1	ITIH1, NEK4	rs1042779-A	0.63	2E-7		1.19	[1.11-1.27]	Affymetrix, Illumina [2366197] (imputed)	N
988	chr3	52831700	52831701	rs2240919	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3p21.1	ITIH3	rs2240919-C	0.658	5E-17		0.027	[0.021-0.033] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
988	chr3	52833218	52833219	rs2535629	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	3p21.1	ITIH3	rs2535629-?	0.651	3E-12		1.1	[1.07-1.12]	NR [1252901] (imputed)	N
988	chr3	52835353	52835354	rs736408	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	3p21.1	PHF7, NT5DC2, MUSTN1, LOC440957, GNL3, GLYCTK, GLT8D1, DNAH1, BAP1, ALAS1, ITIH3, ITIH4, PRKCD, ITIH1, NEK4, PBRM1, WDR82, TWF2, TNNC1, TMEM110, TLR9, SPCS1, SNORD69, NISCH, STAB1, SNORD19, SNORD19B, SFMBT1, SEMA3G, RFT1, PPM1M	rs736408-C	NR	2E-6		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
988	chr3	52838401	52838402	rs4687552	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	3p21.1	PHF7, NT5DC2, MUSTN1, GNL3, GLYCTK, GLT8D1, DNAH1, BAP1, ALAS1, ITIH3, ITIH4, ALDOAP1, C3orf78, ITIH1, MIR135A1, MIRLET7G, NEK4, PBRM1, WDR82, TWF2, TNNC1, TMEM110, TLR9, SPCS1, NISCH, STAB1, SFMBT1, SEMA3G, RFT1, PPM1M	rs4687552-T	0.641	1E-8		1.086	[1.06-1.11]	Affymetrix, Illumina [9871789]	N
988	chr3	52844533	52844534	rs17331151	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	3p21.1	ITIH3, ITIH4	rs17331151-A		2E-9	(AA)			Illumina [NR]	N
988	chr3	52845104	52845105	rs2535627	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p21.1	NR	rs2535627-T	NR	2E-11		1.07	[NR]	Illumina [7158791] (imputed)	N
988	chr3	52845104	52845105	rs2535627	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	3p21.1	GLT8D1, GNL3, ITIH1, ITIH3, ITIH4, MUSTN1, NEK4, NISCH, NT5DC2, PBRM1, SMIM4, SPCS1, STAB1, TMEM110, TMEM110-MUSTN1	rs2535627-T	0.529	4E-11		1.071	[1.049-1.092]	Affymetrix, Illumina [9005918] (imputed)	N
988	chr3	52855228	52855229	rs2239547	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	3p21.1	ITIH3, ITIH4	rs2239547-?	NR	6E-8		1.1	[1.06-1.14]	Affymetrix, Illumina [1252901] (imputed)	N
988	chr3	52859629	52859630	rs2535633	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	3p21.1	ITIH4	rs2535633-G	0.42	2E-10		0.0288	[0.02-0.038] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
988	chr3	52913278	52913279	rs3796352	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	3p21.1	TMEM110	rs3796352-A		5E-7	(AA)			Illumina [NR]	N
989	chr3	53036205	53036206	rs2581794	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p21.1	NR	rs2581794-A	NR	3E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
989	chr3	53062660	53062661	rs9847710	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	3p21.1	NR	rs9847710-G	0.4118	3E-7	(EA)	1.067568	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
989	chr3	53062660	53062661	rs9847710	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	3p21.1	PRKCD, ITIH4	rs9847710-C	0.416	1E-8		1.064	[1.027-1.102]	Affymetrix, Illumina [1230000] (imputed)	N
990	chr3	53100213	53100214	rs6770152	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	3p21.1	MUSTN1, SFMBT1	rs6770152-T	0.58	3E-16		0.044	[0.034-0.054] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
990	chr3	53118738	53118739	rs2336725	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3p21.1	RTF1	rs2336725-T	0.55	1E-12		0.027	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
990	chr3	53125584	53125585	rs2564921	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	3p21.1	RFT1	rs2564921-T	0.43	2E-12		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
990	chr3	53147575	53147576	rs13088281	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	3p21.1	RFT1	rs13088281-A		3E-11	(AA)			Illumina [NR]	N
991	chr3	53282187	53282188	rs4687717	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	3p21.1	TKT	rs4687717-T	0.42	9E-23	(phosphate/erythronate)	0.018	[0.014-0.022] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
991	chr3	53282187	53282188	rs4687717	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	3p21.1	TKT	rs4687717-T	0.42	1E-13	(erythronate)	0.013	[0.0091-0.0169] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
992	chr3	53378244	53378245	rs2029213	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	3p21.1	DCP1A	rs2029213-C	0.639	7E-6				Affymetrix, Illumina [2516789] (imputed)	N
992	chr3	53418797	53418798	rs17053026	25599974	Zhang H	2015-01-19	Genet Epidemiol	A Genome-Wide Association Study of Early Spontaneous Preterm Delivery.	Spontaneous preterm birth (preterm delivery)	935 pre-term delivery mothers, 946 term delivery mothers	66 European ancestry pre-term delivery mothers, 110 African American pre-term delivery mothers, 110 Hispanic pre-term delivery mothers, 7 pre-term delivery mothers,  37 European ancestry term delivery mothers, 84 African American term delivery mothers, 74 Hispanic term delivery mothers, 5 term delivery mothers	3p21.1	DCP1A	rs17053026-?	0.95	5E-6		1.89	[NR]	Affymetrix [779326]	N
992	chr3	53441375	53441376	rs10452033	25055868	Sano M	2014-07-23	Hum Mol Genet	Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.	Electrocardiographic traits	2,994 Japnese ancestry individuals	6,805 Korean ancestry individuals	3p21.1	CACNA1D, DCP1A	rs10452033-A	0.136	4E-7	(PR)	2.122	[NR] unit decrease	Illumina [~ 2500000]	N
992	chr3	53455568	53455569	rs2358740	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p21.1	NR	rs2358740-G	NR	5E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
994	chr3	53635594	53635595	rs9810888	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	3p21.1	CACNA1D	rs9810888-G	0.39	5E-8		0.53	[0.33-0.73] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
994	chr3	53635594	53635595	rs9810888	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	3p21.1	CACNA1D	rs9810888-G	0.39	4E-6				Affymetrix, Illumina [2485448] (imputed)	N
994	chr3	53635594	53635595	rs9810888	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	3p21.1	CACNA1D	rs9810888-G	0.39	4E-12		0.39	[0.27-0.51] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
994	chr3	53680123	53680124	rs1401492	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	3p21.1	CACNA1D	rs1401492-C	0.07	5E-6	(HOMA-IR)	16.0	[9.00 - 22.00] % decrease	Affymetrix [872243]	N
994	chr3	53680123	53680124	rs1401492	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	3p21.1	CACNA1D	rs1401492-C	0.07	3E-6	(Insulin)	15.0	[9.00 - 21.00] % decrease	Affymetrix [872243]	N
995	chr3	53745624	53745625	rs2612012	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p21.1	CACNA1D	rs2612012-A	0.758	5E-6	(EA)	0.02	[0.011-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
995	chr3	53745624	53745625	rs2612012	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p21.1	CACNA1D	rs2612012-A	0.758	2E-6		0.02	[0.012-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
995	chr3	53746088	53746089	rs2633727	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	3p21.1	NR	rs2633727-A	0.1534	4E-6	(Trans/trans-18:2, EA)	0.0016	[0.00082-0.00238] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
995	chr3	53749879	53749880	rs1020821	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	3p21.1	NR	rs1020821-A	0.1532	5E-6	(Trans/trans-18:2, EA)	0.0016	[0.001-0.0022] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
995	chr3	53750680	53750681	rs2169143	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	3p21.1	NR	rs2169143-C	0.1522	5E-6	(Trans/trans-18:2, EA)	0.0016	[0.001-0.0022] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
995	chr3	53758702	53758703	rs7649275	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	3p21.1	NR	rs7649275-A	0.8491	4E-6	(Trans/trans-18:2, EA)	0.0016	[0.001-0.0022] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
995	chr3	53760050	53760051	rs2612034	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	3p21.1	NR	rs2612034-T	0.151	4E-6	(Trans/trans-18:2, EA)	0.0016	[0.001-0.0022] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
995	chr3	53762568	53762569	rs1020820	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	3p21.1	NR	rs1020820-A	0.8504	4E-6	(Trans/trans-18:2, EA)	0.0016	[0.001-0.0022] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
995	chr3	53765662	53765663	rs2680664	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	3p21.1	NR	rs2680664-A	0.1501	4E-6	(Trans/trans-18:2, EA)	0.0016	[0.001-0.0022] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
995	chr3	53847061	53847062	rs893363	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	3p21.1	SELK, IL17RB, CACNA1D, CHDH, ACTR8	rs893363-A	0.6514	8E-6		0.0513	[0.029-0.074] unit increase	Illumina [2500000] (imputed)	N
995	chr3	53847407	53847408	rs14165	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	3p21.1	CACNA1D	rs14165-A	0.32	2E-8		0.096	[0.063-0.129] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
998	chr3	54216116	54216117	rs9809064	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (total eye scanning length)	128 Han Chinese ancestry cases	NA	3p21.1	NR	rs9809064-?		2E-6		81.56	[42.3-120.82] unit decrease	Illumina [498648]	N
999	chr3	54353239	54353240	rs7431992	26339675	Tosto G	2015-06-18	Ann Clin Transl Neurol	F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease.	Alzheimer's disease (late onset)	2,451 Caribbean Hispanic cases, 2,063 Caribbean Hispanic controls	550 Caribbean Hispanic cases, 236 Caribbean Hispanic controls	3p21.1	CACNA2D3	rs7431992-A	0.1	2E-6	(adjusted for APOE)	1.46	[1.25-1.71]	Affymetrix, Illumina [8837542] (imputed)	N
999	chr3	54378599	54378600	rs11711956	24375517	Lohmann K	2013-12-26	Mov Disord	Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?	Musician's dystonia	127 European ancestry cases, 984 European ancestry controls	116 European ancestry cases, 125 European ancestry controls	3p21.1	NR	rs11711956-?	0.24	2E-6		1.73	[1.38-2.18]	Affymetrix [557620]	N
1000	chr3	54497773	54497774	rs149422347	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p14.3	NR	rs149422347-?	NR	2E-6	(Native Hawaiian)	1.482	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1001	chr3	54632546	54632547	rs13064588	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	3p14.3	NR	rs13064588-?	NR	4E-6		1.2367	[NR]	Affymetrix [722112]	N
1003	chr3	54800315	54800316	rs1820616	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	3p14.3	LRTM1	rs1820616-T	0.06	3E-6		0.113	[0.066-0.16] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
1004	chr3	55017748	55017749	rs3773582	24096698	De Vivo I	2013-10-06	Hum Genet	Genome-wide association study of endometrial cancer in E2C2.	Endometrial cancer	up to 2,695 European ancestry cases, up to 2,777 European ancestry controls	up to 3,235 cases, up to 12,059 controls	3p14.3	CACNA2D3	rs3773582-?	NR	8E-6	(European, Endometroid subtype)			Illumina [873935]	N
1004	chr3	55035873	55035874	rs4955826	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	3p14.3	CACNA2D3	rs4955826-?		5E-6	(EA)			Illumina [NR]	N
1006	chr3	55184212	55184213	rs6782380	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	3p14.3	CACNA2D3	rs6782380-C	0.8	8E-6	(AA)	0.18	[0.1-0.26] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1006	chr3	55188272	55188273	rs11706236	22754043	Byrne EM	2012-07-01	Sleep	A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.	Insomnia (caffeine-induced)	2,402 European ancestry individuals from 1,470 families	NA	3p14.3	RP11-889D3.1	rs11706236-?	0.86	4E-6		1.59	[1.32-1.96]	Illumina [2380486] (imputed)	N
1007	chr3	55313399	55313400	rs358806	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	(see Zeggini 2007)	3p14.3	NR	rs358806-?	0.80	3E-6		1.16	[1.03-1.33]	Affymetrix [469557]	N
1008	chr3	55497952	55497953	rs11710229	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	3p14.3	NR	rs11710229-?		6E-6				Affymetrix, Illumina [1348798]	N
1008	chr3	55563343	55563344	rs1875110	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	3p14.3	ERC2	rs1875110-T	0.95	4E-6	(Age 20-60 years)	0.1283	[0.074-0.183] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1008	chr3	55571759	55571760	rs1795648	21057379	Curtis D	2010-11-04	Psychiatr Genet	Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.	Bipolar disorder and schizophrenia	506 European ancestry bipolar 1 disorder cases, 523 European ancestry schizophrenia cases, 505 European ancestry controls	NA	3p14.3	ERC2	rs1795648-?	NR	6E-6				Affymetrix [302482]	N
1010	chr3	55807254	55807255	rs6445754	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	3p14.3	ERC2	rs6445754-C	0.22	5E-6	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
1016	chr3	56530708	56530709	rs2054989	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	3p14.3	ERC2	rs2054989-?	NR	6E-7	(NeckW1rf)			Affymetrix [70897]	N
1016	chr3	56563339	56563340	rs6445797	25317112	Oh S	2014-09-30	Genomics Inform	Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.	Gastritis	977 Korean ancestry female cases, 3,622 Korean ancestry female controls, 804 Korean ancestry male cases, 3,335 Korean ancestry male controls	NA	3p14.3	intergenic	rs6445797-C	NR	2E-6	(Females)	1.402	[NR]	NR [349184]	N
1017	chr3	56667681	56667682	rs9835332	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3p14.3	C3orf63	rs9835332-C	0.46	4E-22		0.028	[0.022-0.034] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1017	chr3	56667681	56667682	rs9835332	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3p14.3	C3orf63	rs9835332-C	0.46	5E-13		0.026	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1017	chr3	56735179	56735180	rs6773931	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	3p14.3	intergenic	rs6773931-A	0.80	8E-8		0.053	[0.033-0.073] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1018	chr3	56759691	56759692	rs4681767	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	3p14.3	ARHGEF3	rs4681767-T	0.429	8E-6	(IIV)	0.18	[0.1-0.26] unit decrease	Illumina [799713]	N
1018	chr3	56798494	56798495	rs13100723	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p14.3	ARHGEF3	rs13100723-A	0.119	1E-6	(GLU )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1018	chr3	56849748	56849749	rs1354034	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Platelet count	13,582 European ancestry individuals	NA	3p14.3	ARHGEF3	rs1354034-T	0.61	6E-24		7.97	[NR] unit increase	Illumina [476395]	N
1018	chr3	56849748	56849749	rs1354034	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	3p14.3	ARHGEF3	rs1354034-C	0.61	9E-34		0.19	[NR] unit decrease	Illumina [476395]	N
1018	chr3	56849748	56849749	rs1354034	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Platelet count	7,943 African American children, 6,234 European ancestry children	NA	3p14.3	ARHGEF3	rs1354034-T	NR	1E-19		10.4352	[8.18-12.69] unit decrease	Illumina [544917]	N
1018	chr3	56849748	56849749	rs1354034	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Platelet count	7,943 African American children, 6,234 European ancestry children	NA	3p14.3	ARHGEF3	rs1354034-T	0.4092	4E-9	(EA)	9.443	[6.3-12.59] unit decrease	Illumina [544917]	N
1018	chr3	56849748	56849749	rs1354034	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Platelet count	7,943 African American children, 6,234 European ancestry children	NA	3p14.3	ARHGEF3	rs1354034-C	0.27	9E-13	(AA)	11.44	[8.31-14.57] unit increase	Illumina [544917]	N
1018	chr3	56849748	56849749	rs1354034	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	3p14.3	ARHGEF3	rs1354034-C	NR	3E-54		6.848	[5.98-7.71] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1018	chr3	56849748	56849749	rs1354034	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	3p14.3	ARHGEF3	rs1354034-T	NR	3E-69		0.023	[0.021-0.025] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1018	chr3	56865775	56865776	rs12485738	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	3p14.3	ARHGEF3	rs12485738-A	NR	6E-31		0.02	[0.013-0.017] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1018	chr3	56865775	56865776	rs12485738	19110211	Meisinger C	2008-12-24	Am J Hum Genet	A genome-wide association study identifies three loci associated with mean platelet volume.	Mean platelet volume	1,606 European ancestry individuals	8,617 European ancestry individuals	3p14.3	ARHGEF3	rs12485738-A	0.30	4E-27		0.02	[0.01-0.02] per log fl increase	Affymetrix [335152]	N
1019	chr3	56966245	56966246	rs2062583	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	3p14.3	ARHGEF3	rs2062583-?		2E-6		1.59	[1.30-1.92]	Illumina [441398]	N
1022	chr3	57394765	57394766	rs1916284	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	3p14.3	DNAH12	rs1916284-?	NR	1E-6	(rs12418451)	1.2658	[1.15-1.41]	Affymetrix, Illumina [1117531] (imputed)	N
1025	chr3	57779835	57779836	rs6768930	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p14.3	SLMAP	rs6768930-G	0.396	5E-6	(Gestational age )	0.05	[NR] wk increase	Illumina [899892]	N
1027	chr3	58006265	58006266	rs6764184	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	3p14.3	FLNB	rs6764184-T	0.46	7E-6	(Aisan)	0.021	[0.011-0.031] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1027	chr3	58006265	58006266	rs6764184	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	3p14.3	FLNB	rs6764184-T	0.24	1E-8		0.015	[0.0091-0.0209] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1027	chr3	58027196	58027197	rs1623879	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	261 Japanese ancestry cases, 262 Japanese ancestry controls	NA	3p14.3	FLNB	rs1623879-G	0.321	4E-6	(Recessive model)	1.669	[1.297-2.148]	Illumina [733202]	N
1028	chr3	58105775	58105776	rs13077017	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	3p14.3	DNASE1L3, FLNB	rs13077017-C	0.71	1E-6		0.073	[0.044-0.102] unit decrease	Illumina [6150213] (imputed)	N
1029	chr3	58302934	58302935	rs73081554	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	3p14.3	ABHD6, PXK, DNASE1L3	rs73081554-T	0.07	5E-8	(EA)	1.18	[1.11-1.25]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1030	chr3	58331185	58331186	rs2176082	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	3p14.3	PXK	rs2176082-?		5E-11	(ACA)	1.21	[NR]	Illumina [NR]	N
1030	chr3	58370176	58370177	rs6445975	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	3p14.3	PXK	rs6445975-C	0.28	7E-9		1.25	[1.16-1.35]	Illumina [317501]	N
1030	chr3	58380464	58380465	rs11714574	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	3p14.3	NR	rs11714574-T	NR	9E-6	(phenotype 1)	2.38	[NR]	Illumina [> 8000000] (imputed)	N
1030	chr3	58381286	58381287	rs13315871	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	3p14.3	PXK	rs13315871-A	0.1	4E-8		0.036	[NR] unit decrease	NR [NR] (imputed)	N
1030	chr3	58455996	58455997	rs112208829	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p14.3	NR	rs112208829-?	NR	3E-6	(Latino)	1.0368	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1031	chr3	58556840	58556841	rs13315591	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	3p14.3	PXK	rs13315591-C	0.09	5E-8		1.29	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1037	chr3	59262686	59262687	rs11917972	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p14.2	C3orf67	rs11917972-G	0.927	9E-6	(EA, women)	0.035	[0.02-0.051] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1037	chr3	59354157	59354158	rs6771019	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	3p14.2	intergenic	rs6771019-?	NR	2E-6				NR [~ 2000000]	N
1038	chr3	59418532	59418533	rs9847987	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	3p14.2	intergenic	rs9847987-T	0.2012	8E-6	(Ordinal)	0.2696	[0.15-0.39] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1038	chr3	59427796	59427797	rs6783485	26227905	Hu Y	2015-07-31	Mol Neurobiol	A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.	Parkinson's disease	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3p14.2	C3orf67, LOC339902	rs6783485-?	NR	1E-6		5.0	[2.86-8.33]	Illumina [862198]	N
1040	chr3	59649520	59649521	rs6763159	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	3p14.2	FHIT	rs6763159-?		1E-6	(Maternal)	1.47	[1.25-1.72]	Illumina [2421290] (imputed)	N
1042	chr3	59902800	59902801	rs1825630	21223598	Wineinger NE	2011-01-11	BMC Med Genomics	Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.	Aortic root size	1,086 African American individuals	NA	3p14.2	FHIT	rs1825630-?	0.44	8E-6		0.0946	[0.053-0.136] cm increase	Affymetrix [NR]	N
1042	chr3	59921019	59921020	rs4502542	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	3p14.2	FHIT	rs4502542-T	0.017	2E-6	(EA + AA - GSE)			Affymetrix [421789]	N
1042	chr3	59928850	59928851	rs931317	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		3p14.2	FHIT	rs931317-?	0.786	3E-6			[NR]	Affymetrix, Illumina [152234]	N
1042	chr3	59981524	59981525	rs212016	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	3p14.2	FHIT	rs212016-?	0.69	7E-6	(CL)	1.54	[1.89-1.27]	Illumina [NR]	N
1042	chr3	60001824	60001825	rs9311745	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Pit-and-Fissure caries	996 European ancestry individuals		3p14.2	NR	rs9311745-C	0.0466	5E-6		2.9914	[NR] unit increase	Illumina [1200000] (imputed)	N
1043	chr3	60062024	60062025	rs13100563	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	3p14.2	FHIT	rs13100563-?	NR	6E-6		0.0393	[0.022-0.056] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
1043	chr3	60123521	60123522	rs10510829	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	3p14.2	FHIT	rs10510829-?	NR	7E-7	(LTG)			Illumina [NR]	N
1044	chr3	60287844	60287845	rs1353545	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p14.2	NR	rs1353545-C	NR	5E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
1044	chr3	60289841	60289842	rs10510837	21182207	Salyakina D	2010-12-01	Autism Res	Variants in several genomic regions associated with asperger disorder.	Asperger disorder	848 individuals from 232 families	NA	3p14.2	FHIT	rs10510837-?	0.12	4E-6				Illumina [439282] (imputed)	N
1046	chr3	60508339	60508340	rs80171647	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	3p14.2	FHIT	rs80171647-?	NR	2E-6	(SF3)			Affymetrix [5476100] (imputed)	N
1048	chr3	60763255	60763256	rs11919041	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	3p14.2	NPCDR1, PTPRG	rs11919041-T	0.287	2E-6		0.082	[0.049-0.115] cup size decrease	Illumina [7422970] (imputed)	N
1048	chr3	60771107	60771108	rs6791644	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	3p14.2	FHIT	rs6791644-?	NR	8E-6	(count)			Perlegen [429981]	N
1050	chr3	60995599	60995600	rs6782531	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	3p14.2	FHIT	rs6782531-G		8E-7	(EA, SBP, Age 40-49)	0.97	[0.58-1.36] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1051	chr3	61127204	61127205	rs9877396	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	3p14.2	FHIT	rs9877396	0.28	3E-6	(EA)	2.0	[NR]	Illumina [1795103]	N
1052	chr3	61236461	61236462	rs2365389	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p14.2	FHIT	rs2365389-C	0.582	3E-6	(EA, men)	0.019	[0.011-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1052	chr3	61236461	61236462	rs2365389	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p14.2	FHIT	rs2365389-C	0.582	2E-10	(EA)	0.02	[0.014-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1052	chr3	61236461	61236462	rs2365389	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p14.2	FHIT	rs2365389-C	0.581	3E-7	(EA, women)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1052	chr3	61236461	61236462	rs2365389	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p14.2	FHIT	rs2365389-C	0.572	1E-10		0.02	[0.014-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1053	chr3	61413813	61413814	rs10514718	20125088	Shi J	2010-02-02	Mol Psychiatry	Genome-wide association study of recurrent early-onset major depressive disorder.	Major depressive disorder	1,020 European ancestry cases, 1,636 European ancestry controls	NA	3p14.2	FHIT, PTPRG	rs10514718-C	0.94	4E-6		2.12		Affymetrix [671424]	N
1056	chr3	61794053	61794054	rs652889	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	3p14.2	PTPRG	rs652889-A	0.36	8E-7		0.15	[0.09-0.21] unit decrease	Illumina [~ 318327]	N
1057	chr3	61948735	61948736	rs704341	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	3p14.2	PTPRG	rs704341-A	0.07	6E-7	(cohort study)	1.73	[1.40-2.14]	Affymetrix, Illumina [up to 2600000] (imputed)	N
1057	chr3	61948735	61948736	rs704341	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	3p14.2	PTPRG	rs704341-A	0.07	6E-7		0.55	[0.33-0.77] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
1057	chr3	61948735	61948736	rs704341	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Ischemic stroke	up to 1,365 African American cases, up to 13,154 African American controls	European ancestry individuals (see Traylor, 2012)	3p14.2	PTPRG	rs704341-A	0.07	7E-7	(cohort study, AA)	1.85	[1.45-2.36]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1057	chr3	61948735	61948736	rs704341	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Ischemic stroke	up to 1,365 African American cases, up to 13,154 African American controls	European ancestry individuals (see Traylor, 2012)	3p14.2	PTPRG	rs704341-A	0.07	7E-7	(AA)	0.62	[0.38-0.86] unit increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1058	chr3	62036723	62036724	rs10490775	20825314	Baratz KH	2010-09-09	N Engl J Med	E2-2 protein and Fuchs's corneal dystrophy.	Fuchs's corneal dystrophy	130 European ancestry cases, 260 European ancestry controls	150 cases, 150 controls	3p14.2	PTPRG	rs10490775-A	0.10	1E-6		2.3	[1.64-3.22]	Illumina [~ 370000]	N
1058	chr3	62064768	62064769	rs11130874	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	3p14.2	NR	rs11130874-?	NR	2E-6		1.1	[1.06-1.14]	Affymetrix, Illumina [1252901] (imputed)	N
1058	chr3	62112140	62112141	rs35593266	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/5-HIAA ratio)	up to 398 European ancestry individuals	NA	3p14.2	PTPRG, ID2B	rs35593266-A		5E-6		0.2196	unit increase	Illumina [5767231] (imputed)	N
1061	chr3	62478193	62478194	rs13325751	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3p14.2	CADPS	rs13325751-T	NR	6E-6		0.132	[0.075-0.189] unit increase	Illumina [628922]	N
1062	chr3	62601365	62601366	rs1231831	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	3p14.2	CADPS	rs1231831-C		2E-6		0.05	[0.03-0.07] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1063	chr3	62733365	62733366	rs580384	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	3p14.2	CADPS	rs580384-C	0.089	4E-6		0.124	[0.071-0.177] cup size decrease	Illumina [7422970] (imputed)	N
1063	chr3	62782467	62782468	rs304172	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p14.2	NR	rs304172-G	0.956126387053571	8E-6	(IGP36)	0.3337	[0.19-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
1067	chr3	63236809	63236810	rs13098482	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p14.2	NR	rs13098482-?	NR	4E-7	(Japanese)	0.683	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1069	chr3	63438885	63438886	rs1975649	25138779	Mitchell LE	2014-08-18	Hum Mol Genet	Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.	Congenital left-sided heart lesions	284 European ancestry case-parent trios, up to 93 case-parent trios	216 European ancestry case-parent trios, 8 case-parent trios	3p14.2	SYNPR	rs1975649-?	0.33	3E-7		1.65	[1.36-2.01]	Illumina [1712604] (imputed)	N
1071	chr3	63813653	63813654	rs7614311	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	3p14.1	NR	rs7614311-?		1E-6	(AA)			Illumina [up to 524000]	N
1071	chr3	63813653	63813654	rs7614311	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second)	1,015 European ancestry individuals, 541 African American individuals	NA	3p14.1	NR	rs7614311-?		6E-6	(AA)			Illumina [up to 524000]	N
1072	chr3	63833049	63833050	rs832187	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	3p14.1	ATXN7, C3orf49, PSMD6, THOC7	rs832187-C	0.385	1E-8		1.0626993	[1.04-1.08]	Affymetrix, Illumina [9005918] (imputed)	N
1072	chr3	63842628	63842629	rs832190	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p14.1	NR	rs832190-C	NR	3E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1073	chr3	64029382	64029383	rs831574	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	3p14.1	PSMD6	rs831574-A		8E-6		0.16	[0.09-0.23] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1073	chr3	64048296	64048297	rs831571	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	3p14.1	PSMD6	rs831571-c	0.61	8E-11		1.09	[1.06-1.12]	Affymetrix, Illumina [2626356] (imputed)	N
1073	chr3	64078008	64078009	rs153734	19303062	Tanaka T	2009-03-18	Am J Hum Genet	Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.	Folate pathway vitamin levels	2,934 European ancestry individuals	686 European ancestry individuals	3p14.1	PRICKLE2	rs153734-T	0.84	7E-6	(folate)	0.29	[0.13-0.45] ng/ml increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1074	chr3	64149166	64149167	rs27387	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	3p14.1	PRICKLE2, PSMD6, ADAMTS9	rs27387-A	0.021	1E-6		4.44	[2.29-8.59]	Illumina [1556551]	N
1074	chr3	64173900	64173901	rs1035275	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p14.1	NR	rs1035275-C	0.444727228304406	9E-6	(IGP8)	0.1416	[0.079-0.204] unit decrease	Illumina [~ 2500000] (imputed)	N
1075	chr3	64292636	64292637	rs741013	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	3p14.1	PRICKLE2	rs741013-A	0.98	5E-7	(AA)	0.97	[0.6-1.34] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1077	chr3	64536647	64536648	rs80311637	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (aspartate transaminase)	484 Korean ancestry children	NA	3p14.1	ADAMTS9	rs80311637-A	0.029	2E-6		0.078	[0.047-0.109] unit increase	Illumina [747076]	N
1077	chr3	64536647	64536648	rs80311637	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	3p14.1	ADAMTS9	rs80311637-A	0.029	7E-6		0.137	[0.078-0.196] unit increase	Illumina [747076]	N
1078	chr3	64705364	64705365	rs6795735	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	3p14.1	ADAMTS9	rs6795735-T	0.46	5E-9		1.1	[1.07-1.14]	Affymetrix, Illumina [2442884] (imputed)	N
1078	chr3	64705364	64705365	rs6795735	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	3p14.1	ADAMTS9	rs6795735-C	0.59	1E-13		0.03	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
1078	chr3	64711903	64711904	rs4607103	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	3p14.1	ADAMTS9	rs4607103-C	0.76	1E-8		1.09	[1.06-1.12]	Affymetrix, Illumina [2202892] (imputed)	N
1078	chr3	64718257	64718258	rs2371767	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p14.1	MIR548AN	rs2371767-C	0.288	2E-7		0.018	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1078	chr3	64718257	64718258	rs2371767	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p14.1	MIR548AN	rs2371767-C	0.275	5E-7	(EA)	0.018	[0.011-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1078	chr3	64718257	64718258	rs2371767	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p14.1	ADAMTS9	rs2371767-G	0.7247	2E-20	(EA)	0.0363	[0.029-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1078	chr3	64718257	64718258	rs2371767	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p14.1	ADAMTS9	rs2371767-G	0.7235	1E-26	(EA, women)	0.0555	[0.045-0.066] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1078	chr3	64718257	64718258	rs2371767	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p14.1	ADAMTS9	rs2371767-G	0.7073	1E-22		0.0374	[0.03-0.045] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1078	chr3	64718257	64718258	rs2371767	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3p14.1	ADAMTS9	rs2371767-G	0.7065	2E-29	(women)	0.057	[0.047-0.067] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1078	chr3	64718257	64718258	rs2371767	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	3p14.1	ADAMTS9, ADAMTS9-AS2, MIR548AN	rs2371767-G		2E-6	(WHRadjBMI, women)			Affymetrix, Illumina [2846694] (imputed)	N
1078	chr3	64727085	64727086	rs7433808	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p14.1	ADAMTS9	rs7433808-A	0.74	2E-7	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1078	chr3	64727085	64727086	rs7433808	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p14.1	ADAMTS9	rs7433808-A	0.74	2E-7	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1078	chr3	64729891	64729892	rs7638389	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p14.1	ADAMTS9	rs7638389-A	0.74	8E-6	(Women)			Affymetrix, Illumina [2500000] (imputed)	N
1080	chr3	64886109	64886110	rs1036797	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity (interaction)	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	3p14.1	ADAMTS9, MIR548A2, AS2	rs1036797-?	0.26	2E-6				Illumina [565404]	N
1080	chr3	64912150	64912151	rs10510921	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	3p14.1	ADAMTS9-AS2, MIR548A2	rs10510921-G	0.02	7E-6		3.52	[2.97-4.07]	Illumina [8809853] (imputed)	N
1080	chr3	64927024	64927025	rs704454	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	3p14.1	ADAMTS9	rs704454-?	NR	3E-6		0.5038	unit increase	Illumina [2543888] (imputed)	N
1083	chr3	65326881	65326882	rs6764388	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		3p14.1	NR	rs6764388-T		6E-6		0.046	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1083	chr3	65379293	65379294	rs1016553	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	3p14.1	MAGI1	rs1016553-A	0.058	6E-6	(n-6 PUFA)			Affymetrix [590000]	N
1083	chr3	65398897	65398898	rs7649739	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p14.1	NR	rs7649739-G	0.358836830440587	6E-6	(IGP57)	0.1501	[0.085-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
1084	chr3	65486387	65486388	rs1524976	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	PR interval	455 African American individuals	NA	3p14.1	MAGI1	rs1524976-A		8E-6		8.0	[NR] ms increase	Illumina [> 930000]	N
1085	chr3	65542855	65542856	rs35855737	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	3p14.1	MAGI1	rs35855737-C	0.18	2E-8		0.04	[NR] unit decrease	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
1086	chr3	65760341	65760342	rs11924265	25557950	Alonso A	2014-12-31	Gastroenterology	Identification of Risk Loci for Crohn's Disease Phenotypes Using a Genome-wide Association Study.	Crohn's disease-related phenotypes	up to 1,090 Southern European ancestry Crohn's disease cases	up to 1,296 Southern European ancestry Crohn's disease cases	3p14.1	MAGI1	rs11924265-C	0.06	5E-7	(B2)	2.03	[1.52-2.73]	Illumina [539846]	N
1086	chr3	65760341	65760342	rs11924265	25557950	Alonso A	2014-12-31	Gastroenterology	Identification of Risk Loci for Crohn's Disease Phenotypes Using a Genome-wide Association Study.	Crohn's disease-related phenotypes	up to 1,090 Southern European ancestry Crohn's disease cases	up to 1,296 Southern European ancestry Crohn's disease cases	3p14.1	MAGI1	rs11924265-C	0.06	2E-8	(CDC stricturing)	2.27	[1.68-3.09]	Illumina [539846]	N
1091	chr3	66431601	66431602	rs2242285	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	3p14.1	SLC25A26, LRIG1	rs2242285-A	0.42	1E-8		0.37	[0.23-0.51] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1091	chr3	66442434	66442435	rs812481	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	3p14.1	SLC25A26, LRIG1	rs812481-G	0.58	3E-8	(EA)	1.09	[1.05-1.12]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1091	chr3	66442434	66442435	rs812481	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	3p14.1	SLC25A26, LRIG1	rs812481-G	0.58	2E-8		1.09	[1.05-1.11]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1091	chr3	66445600	66445601	rs9827908	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	3p14.1	LRIG1	rs9827908-?		6E-8	(AA)	48.5	[NR]	Illumina [936149]	N
1092	chr3	66479486	66479487	rs13078828	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3p14.1	LRIG1	rs13078828-?	NR	4E-7				Affymetrix [5486770] (imputed)	N
1092	chr3	66525962	66525963	rs3845905	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	261 Japanese ancestry cases, 262 Japanese ancestry controls	NA	3p14.1	LRIG1	rs3845905-G	0.828	6E-6	(Allelic model)	2.433	[1.645-3.598]	Illumina [733202]	N
1092	chr3	66525962	66525963	rs3845905	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)	428 Japanese ancestry cases, 743 Japanese ancestry controls	NA	3p14.1	LRIG1	rs3845905-G	0.85	4E-6	(Allelic model)	1.894	[1.433-2.503]	Illumina [733202]	N
1094	chr3	66768363	66768364	rs17045031	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	3p14.1	LRIG1	rs17045031-A	NR	4E-7	(Plaque)	0.2986	[0.18-0.42] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1094	chr3	66769883	66769884	rs6549373	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	3p14.1	RP11-814M22.1	rs6549373-T	0.06	2E-6		0.349	[0.21-0.49] unit decrease	Affymetrix [2366856] (imputed)	N
1094	chr3	66798949	66798950	rs13069000	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	3p14.1	LRIG1, KBTBD8	rs13069000-G	0.17	1E-19		0.0093	[0.0073-0.0113] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
1094	chr3	66809941	66809942	rs13069049	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	3p14.1	intergenic	rs13069049-T	0.17	3E-18	(BUN)	0.0182	[0.014-0.022] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
1094	chr3	66823156	66823157	rs11709625	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	3p14.1	intergenic	rs11709625-A	0.17	1E-10	(BUN)	0.102	[0.071-0.133] unit increase	Illumina [561583]	N
1094	chr3	66829907	66829908	rs12496230	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	3p14.1	LRIG1, KBTBD8	rs12496230-?	NR	4E-6		0.54	[0.30-0.78] unit increase	Illumina [1075436] (imputed)	N
1097	chr3	67143837	67143838	rs4392363	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	3p14.1	intergenic	rs4392363-?	0.74	1E-6		1.15	[1.09-1.22]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1099	chr3	67373976	67373977	rs977102	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	3p14.1	intergenic	rs977102-?	NR	2E-6	(SF7)			Affymetrix [5476100] (imputed)	N
1099	chr3	67416321	67416322	rs17806888	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	3p14.1	SUCLG2	rs17806888-T	0.88	7E-11	(succinylcarnitine)	0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1099	chr3	67416321	67416322	rs17806888	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3p14.1	SUCLG2	rs17806888-T	0.88	2E-9		0.036	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1099	chr3	67417104	67417105	rs2363709	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	3p14.1	SUCLG2	rs2363709-G	NR	5E-6		0.12	[0.07-0.17] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1099	chr3	67457032	67457033	rs62256378	25027320	Ramirez A	2014-07-15	Hum Mol Genet	SUCLG2 identified as both a determinator of CSF Ass1-42-levels and an attenuator of cognitive decline in Alzheimer's disease.	Cerebrospinal AB1-42 levels in Alzheimer's disease dementia	363 European ancestry individuals	515 individuals	3p14.1	SUCLG2	rs62256378-A	0.061	3E-12		0.71	[0.51-0.91] unit increase	Illumina [6812394] (imputed)	N
1100	chr3	67531387	67531388	rs6792584	22144915	Fan Q	2011-12-01	PLoS Genet	Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.	Corneal astigmatism	1,231 Chinese ancestry cases, 785 Chinese ancestry controls, 1,018 Malay ancestry cases, 1,220 Malay ancestry controls	825 Indian ancestry cases, 1,314 Indian ancestry controls, 760 Chinese ancestry child cases, 169 Chinese ancestry child controls, 397 Chinese ancestry trios	3p14.1	SUCLG2	rs6792584-G	NR	5E-6		1.24	[1.14-1.34]	Illumina [460528]	N
1104	chr3	68128583	68128584	rs9685722	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	3p14.1	intergenic	rs9685722-T	0.1213	6E-6		0.4804	[0.27-0.69] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1109	chr3	68796155	68796156	rs11708245	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p14.1	NR	rs11708245-?	NR	1E-7	(EA)	0.1938	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1112	chr3	69173374	69173375	rs7638995	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	3p14.1	intergenic	rs7638995-A	0.11	2E-6				Affymetrix [614963]	N
1113	chr3	69252898	69252899	rs6806528	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	3p14.1	FRMD4B	rs6806528-A	0.10	2E-7		1.19	[1.12-1.27]	Illumina [292387]	N
1114	chr3	69440850	69440851	rs7648449	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p14.1	NR	rs7648449-C	NR	8E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1114	chr3	69442636	69442637	rs922948	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	3p14.1	intergenic	rs922948-?	NR	2E-6	(ShaftW1f)			Affymetrix [70897]	N
1116	chr3	69623187	69623188	rs7647307	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	3p14.1	LOC642487	rs7647307-?	NR		<1 x 10-6 (multiple phenotypes)			Illumina [530992]	N
1117	chr3	69824092	69824093	rs78356356	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	3p13	NR	rs78356356-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1121	chr3	70259701	70259702	rs17006842	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3p13	NR	rs17006842-?	NR	4E-6	(AA)	0.9617	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1122	chr3	70463329	70463330	rs1024889	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	3p13	NR	rs1024889-G	0.28	6E-6	(males)	0.12	[NR] kg increase	Illumina [318237]	N
1123	chr3	70626359	70626360	rs7628219	22754043	Byrne EM	2012-07-01	Sleep	A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.	Insomnia (caffeine-induced)	2,402 European ancestry individuals from 1,470 families	NA	3p13	RP11-430J3.1	rs7628219-T	0.18	2E-6		1.61	[1.33-1.96]	Illumina [2380486] (imputed)	N
1125	chr3	70852705	70852706	rs6549358	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p13	NR	rs6549358-G	NR	5E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1126	chr3	70928929	70928930	rs2687201	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Esophageal adenocarcinoma	1,516 European ancestry cases, 3,209 European ancestry controls	874 European ancestry cases, 6,911 European ancestry controls	3p13	FOXP1	rs2687201-T	0.303	6E-7		1.2	[1.12-1.29]	Illumina [922031]	N
1126	chr3	70928929	70928930	rs2687201	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	3p13	FOXP1	rs2687201-T	0.303	5E-9		1.18	[1.12-1.25]	Illumina [922031]	N
1126	chr3	70928929	70928930	rs2687201	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Barrett's esophagus	2,416 European ancestry cases, 3,206 European ancestry controls	759 European ancestry cases, 6,911 European ancestry controls	3p13	FOXP1	rs2687201-T	0.303	2E-6		1.18	[1.10-1.26]	Illumina [922031]	N
1126	chr3	71020489	71020490	rs17651978	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	3p13	FOXP1	rs17651978-?	NR	6E-6	(count)			Perlegen [429981]	N
1127	chr3	71055161	71055162	rs13093086	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	3p13	FOXP1	rs13093086-A	0.49	5E-6		0.57	[0.30-0.84] mmHg decrease	Illumina [466573]	N
1127	chr3	71115750	71115751	rs7616330	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	3p13	NR	rs7616330-A	0.22	6E-6		1.72	[0.99-2.45] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1128	chr3	71254750	71254751	rs7372960	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p13	NR	rs7372960-T	NR	7E-8		1.07	[NR]	Illumina [7158791] (imputed)	N
1128	chr3	71300566	71300567	rs17008402	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p13	FOXP1	rs17008402-G	0.31	2E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1129	chr3	71414044	71414045	rs13072512	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p13	NR	rs13072512-G	0.576619429209469	6E-6	(IGP23)	0.1484	[0.084-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
1130	chr3	71464334	71464335	rs13063872	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	3p13	intergenic	rs13063872-?	0.93	9E-6		1.25	[1.12-1.37]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1131	chr3	71569076	71569077	rs62244881	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p13	NR	rs62244881-T	NR	3E-7		1.09	[NR]	Illumina [7158791] (imputed)	N
1134	chr3	72023699	72023700	rs2135319	22085899	Chen G	2011-11-16	Eur J Hum Genet	UGT1A1 is a major locus influencing bilirubin levels in African Americans.	Bilirubin levels	619 African American individuals	NA	3p13	RP11-648C16.1	rs2135319-A	0.081	4E-6		0.194	[0.112-0.276] unit increase	Affymetrix [808465]	N
1134	chr3	72036919	72036920	rs77673554	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3p13	NR	rs77673554-?	NR	8E-6	(Native Hawaiian)	0.9345	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1135	chr3	72161232	72161233	rs6549438	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	3p13	intergenic	rs6549438-?	0.52	4E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1137	chr3	72393140	72393141	rs9832740	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	3p13	RYBP	rs9832740-G	0.49	5E-13		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1137	chr3	72437412	72437413	rs9863706	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3p13	RYBP	rs9863706-T	0.22	4E-13		0.031	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1137	chr3	72455354	72455355	rs12330322	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3p13	RYBP	rs12330322-T	0.218	3E-22		0.034	[0.026-0.042] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1138	chr3	72509270	72509271	rs11128271	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p13	NR	rs11128271-C	0.93627697952826	6E-7	(IGP67)	0.338	[0.21-0.47] unit increase	Illumina [~ 2500000] (imputed)	N
1138	chr3	72509270	72509271	rs11128271	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p13	NR	rs11128271-C	0.936242533184855	6E-6	(IGP63)	0.3063	[0.17-0.44] unit decrease	Illumina [~ 2500000] (imputed)	N
1138	chr3	72509636	72509637	rs13072744	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	3p13	RYBP	rs13072744-T	0.48	5E-10		0.029	[0.015-0.043] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1138	chr3	72518039	72518040	rs9832314	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p13	NR	rs9832314-G	0.055934898976413	9E-6	(IGP66)	0.2992	[0.17-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
1141	chr3	72934370	72934371	rs1847202	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	3p13	GXYLT2	rs1847202-T	0.644	3E-8		0.031	[0.02-0.042] unit increase	Illumina [7428049] (imputed)	N
1146	chr3	73540617	73540618	rs4557101	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	3p13	NR	rs4557101-C	0.22	4E-6		1.72	[0.99-2.45] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1146	chr3	73619560	73619561	rs11128347	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	3p13	PDZRN3	rs11128347-?	0.89	6E-7		1.85	[1.45-2.33]	Affymetrix [832357]	N
1148	chr3	73811568	73811569	rs291482	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	3p13	intergenic	rs291482-?	NR	2E-6		0.0285	[0.017-0.040] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
1154	chr3	74627702	74627703	rs13073838	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	3p12.3	intergenic	rs13073838-T	NR	3E-6	(Economic policy)	0.116	[0.067-0.165] unit decrease	Illumina [628922]	N
1154	chr3	74635096	74635097	rs1374879	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking quantity	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	3p12.3	NR	rs1374879-?		8E-6				Illumina [1211988] (imputed)	N
1166	chr3	76261819	76261820	rs1516459	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	3p12.3	intergenic	rs1516459-C	0.968	3E-6		0.27	[0.16-0.38] unit decrease	Illumina [6150213] (imputed)	N
1166	chr3	76269885	76269886	rs35261864	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p12.3	NR	rs35261864-C	NR	6E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1168	chr3	76484182	76484183	rs3849491	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Sex hormone-binding globulin levels	1,598 European ancestry female individuals	NA	3p12.3	intergenic	rs3849491-T	0.48	6E-6		0.073	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
1170	chr3	76722765	76722766	rs264537	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	3p12.3	ROBO2	rs264537-C	0.43	3E-6	(Age 20-60 years)	1.35	[1.19-1.54]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1170	chr3	76725902	76725903	rs10511052	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3p12.3	NR	rs10511052-G	0.950688225100133	6E-6	(IGP7)	0.3598	[0.2-0.52] unit increase	Illumina [~ 2500000] (imputed)	N
1177	chr3	77652741	77652742	rs73114594	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	3p12.3	ROBO2	rs73114594-A		7E-6		0.272	unit increase	Illumina [5767231] (imputed)	N
1177	chr3	77717755	77717756	rs7642482	25226531	St Pourcain B	2014-09-16	Nat Commun	Common variation near ROBO2 is associated with expressive vocabulary in infancy.	Expressive vocabulary in infants	6,851 European ancestry 15-18-month-old children, 6,299 European ancestry 24-30-month-old children	2,038 European ancestry 15-18-month-old children, 4,520 European ancestry 24-30-month-old children	3p12.3	ROBO2	rs7642482-G	0.19	1E-8	(15-18 months)	0.11	[0.073-0.147] unit decrease	Illumina [2449665] (imputed)	N
1180	chr3	78044688	78044689	rs9836484	19023125	Potkin SG	2008-11-20	Schizophr Bull	A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.	Brain imaging in schizophrenia (interaction)	46 European ancestry cases, 60 European ancestry controls, 18 cases, 14 controls	NA	3p12.3	ROBO1, ROBO2	rs9836484-?	0.32	4E-6				Illumina [302783]	N
1182	chr3	78353590	78353591	rs9831754	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	3p12.3	intergenic	rs9831754-T	NR	8E-6		0.02	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1183	chr3	78498996	78498997	rs9834373	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	3p12.3	ROBO1	rs9834373-?	0.17	4E-6	(GP130)			Illumina [496032]	N
1192	chr3	79604063	79604064	rs7617400	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (aspartate transaminase)	484 Korean ancestry children	NA	3p12.3	ROBO1	rs7617400-A	0.161	6E-6		0.034	[0.02-0.048] unit increase	Illumina [747076]	N
1198	chr3	80368462	80368463	rs10511112	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	3p12.2	intergenic	rs10511112-C	0.07	5E-6		1.11	[1.06-1.16]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1198	chr3	80469508	80469509	rs9990395	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p12.2	NR	rs9990395-G	NR	8E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1200	chr3	80660049	80660050	rs59888335	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p12.2	NR	rs59888335-T	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1201	chr3	80865763	80865764	rs9850225	22704111	Hotaling JM	2012-06-13	J Urol	Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.	Erectile dysfunction in type 1 diabetes	125 European ancestry cases, 403 European ancestry controls	NA	3p12.2	SLC25A36	rs9850224-A	0.010	5E-6				Illumina [840354]	N
1202	chr3	80914408	80914409	rs12487279	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3p12.2	NR	rs12487279-C	NR	8E-6		1.11	[NR]	Illumina [7158791] (imputed)	N
1209	chr3	81792111	81792112	rs3849570	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p12.2	GBE1	rs3849570-A	0.362	2E-8		0.018	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1209	chr3	81792111	81792112	rs3849570	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p12.2	GBE1	rs3849570-A	0.361	2E-7	(EA, men)	0.023	[0.014-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1209	chr3	81792111	81792112	rs3849570	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p12.2	GBE1	rs3849570-A	0.359	3E-8	(EA)	0.019	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1226	chr3	84147442	84147443	rs9863067	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	3p12.1	GBE1, CADM2	rs9863067-C	0.904	1E-6		0.194	[0.11-0.28] unit increase	Illumina [6391392] (imputed)	N
1227	chr3	84202202	84202203	rs4522784	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p12.1	intergenic	rs4522784-C	0.01	7E-6	(IGF1 free )	0.04	[NR] ng/mL increase	Illumina [899892]	N
1229	chr3	84481067	84481068	rs10511089	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	3p12.1	intergenic	rs10511089-?	0.11	7E-7				Illumina [448293]	N
1232	chr3	84920367	84920368	rs7642644	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	3p12.1	LOC440970	rs7642644-T	0.144	6E-6	(Commissions)	3.15	[1.78-4.52] unit decrease	Illumina [799713]	N
1237	chr3	85502844	85502845	rs13323436	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p12.1	CADM2	rs13323436-A	0.10	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1237	chr3	85531198	85531199	rs9841144	25199915	Broer L	2014-09-08	J Gerontol A Biol Sci Med Sci	GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.	Longevity (90 years and older)	6,036 European ancestry cases, 3,757 European ancestry controls	NA	3p12.1	CADM2	rs9841144-?	0.21	9E-7		1.2345679	[1.14-1.35]	Affymetrix, Illumina [2500000] (imputed)	N
1238	chr3	85604922	85604923	rs17518584	25869804	Ibrahim-Verbaas CA	2015-04-14	Mol Psychiatry	GWAS for executive function and processing speed suggests involvement of the CADM2 gene.	Information processing speed	Up to 30,807 European ancestry individuals, up to 1,267 Erasmus Rucphen Family individuals, up to 535 Korkulan individuals, up to 417 Orcadian individuals, up to 311 Vis individuals	Up to 8,436 European ancestry individuals, up to 1,444 African American individuals	3p12.1	CADM2	rs17518584-T	0.64	3E-9	(LDST/DSST- age, sex, and education adjusted)	5.92	[NR] unit increase	Affymetrix, Illumina [up to 2357391] (imputed)	N
1238	chr3	85604922	85604923	rs17518584	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	3p12.1	CADM2	rs17518584-?	NR	1E-6		0.0282	[0.017-0.040] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
1239	chr3	85807589	85807590	rs13078960	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p12.1	CADM2	rs13078960-G	0.197	1E-11	(EA, women)	0.034	[0.024-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1239	chr3	85807589	85807590	rs13078960	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p12.1	CADM2	rs13078960-G	0.196	2E-14	(EA)	0.03	[0.022-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1239	chr3	85807589	85807590	rs13078960	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p12.1	CADM2	rs13078960-G	0.194	4E-7	(EA, men)	0.026	[0.016-0.036] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1239	chr3	85807589	85807590	rs13078960	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3p12.1	CADM2	rs13078960-G	0.193	1E-14		0.029	[0.022-0.036] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1240	chr3	85874475	85874476	rs12494658	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	3p12.1	CADM2	rs12494658-T	0.752	5E-6	(Persistence)	0.078	unit decrease	Affymetrix, Illumina [1252222] (imputed)	N
1240	chr3	85884149	85884150	rs13078807	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	3p12.1	CADM2	rs13078807-G	0.2	3E-11	(Overweight)	1.06	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1240	chr3	85884149	85884150	rs13078807	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	3p12.1	CADM2	rs13078807-G	0.20	4E-11		0.1	[0.06-0.14] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1240	chr3	85905033	85905034	rs71316816	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	3p12.1	CADM2	rs71316816-C	0.92	9E-6		1.25	[1.14-1.37]	NR [NR]	N
1242	chr3	86158884	86158885	rs2324999	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p12.1	CADM2	rs2324999-T	0.20	4E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1242	chr3	86158884	86158885	rs2324999	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3p12.1	CADM2	rs2324999-T	0.20	2E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1243	chr3	86255671	86255672	rs7428796	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		3p12.1	intergenic	rs7428796-?	.617	2E-18			[NR]	Affymetrix, Illumina [152234]	N
1245	chr3	86544385	86544386	rs188655146	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3p12.1	NR	rs188655146-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
1247	chr3	86850617	86850618	rs7628864	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	3p12.1	VGLL3	rs7628864-G	0.38	3E-9	(Pubertal growth, females)	0.11	[0.073-0.147] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1247	chr3	86894477	86894478	rs9757252	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	3p12.1	VGLL3	rs9757252-?	NR	5E-6	(rs17021918)	1.25	[1.13-1.37]	Affymetrix, Illumina [1117531] (imputed)	N
1248	chr3	86916881	86916882	rs7642134	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3p12.1	POU1F1, PIT1	rs7642134-G	0.61	3E-16		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1248	chr3	86916881	86916882	rs7642134	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	3p12.1	VGLL3	rs7642134-A	0.38	4E-10		2.4	[1.62-3.18] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1248	chr3	86968508	86968509	rs17023661	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3p12.1	VGLL3	rs17023661-A	0.221	2E-6	(IL6 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1249	chr3	87110673	87110674	rs2660753	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	3p12.1	VGLL3	rs2660753-T	NR	6E-6		1.1904762	[NR]	Illumina [4550396] (imputed)	N
1249	chr3	87110673	87110674	rs2660753	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	3p12.1	intergenic	rs2660753-T	0.11	3E-8		1.18	[1.06-1.31]	Illumina [541129]	N
1249	chr3	87134799	87134800	rs17023900	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	3p12.1	LINC00506, BC050344	rs17023900-G	0.07	1E-11		1.26	[1.18-1.34]	Illumina [1531807] (imputed)	N
1249	chr3	87134799	87134800	rs17023900	22923026	Cheng I	2012-08-24	Cancer Epidemiol Biomarkers Prev	Evaluating genetic risk for prostate cancer among Japanese and Latinos.	Prostate cancer	1,033 Japanese ancestry cases, 1,042 Japanese ancestry controls, 1,043 Latino cases, 1,057 Latino controls	1,583 Japanese ancestry cases, 3,386 Japanese ancestry  controls, 1,854 European ancestry cases, 3,748 European ancestry controls	3p12.1	NR	rs17023900-G	NR	6E-8	(Japanese and Latin American)	1.41	NR	Illumina [528023]	N
1249	chr3	87152168	87152169	rs9284813	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	3p11.2	intergenic	rs9284813-?	NR	5E-9				Illumina [510687]	N
1250	chr3	87173323	87173324	rs17181170	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	3p11.2	NR	rs17181170-?	NR	3E-8				Illumina [541129]	N
1250	chr3	87241496	87241497	rs7629490	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	3p11.2	intergenic	rs7629490-T	NR	1E-7	(conditioned on rs2660753)	1.06	[1.04-1.09]	Illumina [571243]	N
1251	chr3	87313352	87313353	rs4988462	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	3p11.2	BC050344, POU1F1, MIR4795, CHMP2B	rs4988462-T	0.42	4E-7		1.18	[NR]	Illumina [7659573] (imputed)	N
1252	chr3	87495549	87495550	rs9834692	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		3p11.2	intergenic	rs9834692-?	NR	3E-9	(Clustering coefficient - R-insula)			Illumina [428287]	N
1252	chr3	87525448	87525449	rs9883474	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		3p11.2	intergenic	rs9883474-?	NR	3E-9	(Clustering coefficient - R-insula)			Illumina [428287]	N
1254	chr3	87783975	87783976	rs9860340	22554406	Kang SJ	2012-05-03	Genes Brain Behav	Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6.	Electroencephalographic traits in alcoholism	1,560 European ancestry individuals from 117 families	NA	3p11.2	intergenic	rs9860340-A	0.749	4E-6		0.122	[NR] unit decrease	Illumina [634583]	N
1258	chr3	88241273	88241274	rs9849248	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3p11.1	ZNF654, HTR1P	rs9849248-C	0.15	2E-8		0.04	[0.026-0.054] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1260	chr3	88524174	88524175	rs2880961	21177773	Moyer AM	2010-12-22	Toxicol Sci	Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study.	Response to acetaminophen (hepatotoxicity)	60 European ancestry lymphoblastoid cell lines, 56 African American lymphoblastoid cell lines, 60 Han Chinese American lymphoblastoid cell lines	NA	3p11.1	C3orf38	rs2880961-?	0.34	2E-7				Affymetrix, Illumina [1348864]	N
1263	chr3	88977896	88977897	rs12497795	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	3p11.1	EPHA3	rs12497795-T	0.1	2E-6	(Age 20-81 years)	0.0778	[0.046-0.110] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1268	chr3	89534376	89534377	rs7632427	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	3p11.1	NR	rs7632427-?	NR	4E-8	(Meta-All, NSCL/P)			NR [497084]	N
1268	chr3	89534376	89534377	rs7632427	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	3p11.1	EPHA3	rs7632427-T	NR	4E-8	(Meta-All, NSCL/P)	1.37	[1.20-1.55]	NR [497084]	N
1275	chr3	90454394	90454395	rs189894228	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3p11.1	NR	rs189894228-?	NR	1E-6	(Native Hawaiian)	1.0929	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1299	chr3	93690846	93690847	rs60136336	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3q11.1	NR	rs60136336-?	NR	2E-6	(Native Hawaiian)	0.7505	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1304	chr3	94243712	94243713	rs13067306	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	3q11.2	NSUN3	rs13067306-A	0.01	5E-6	(MAP, during intervention)	4.51	[2.57-6.45] mmHg increase	Affymetrix [2216774] (imputed)	N
1304	chr3	94243712	94243713	rs13067306	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	3q11.2	NSUN3	rs13067306-A	0.01	4E-7	(DBP, during intervention)	4.86	[2.98-6.74] mmHg increase	Affymetrix [2216774] (imputed)	N
1315	chr3	95688842	95688843	rs9814870	19478329	Aston KI	2009-05-28	J Androl	Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.	Male infertility	52 European ancestry oligozoospermic cases, 40 European ancestry non-obstructive azoospermic cases, 80 European ancestry controls	NA	3q11.2	ARL6	rs9814870-?	0.15	7E-7	(oligozoospermia)			Illumina [314776]	N
1316	chr3	95853631	95853632	rs111325002	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	3q11.2	intergenic	rs111325002-?	NR	4E-7	(AA)			Illumina [37426733] (imputed)	N
1319	chr3	96328826	96328827	rs6796026	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q11.2	RPL18AP8	rs6796026-A	0.0080	8E-6	(IGF1 free )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1320	chr3	96400598	96400599	rs6793516	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	3q11.2	EPHA6	rs6793516-?	NR	5E-6		2.372	[1.36-3.39] unit increase	Illumina [> 2500000] (imputed)	N
1322	chr3	96682261	96682262	rs7650621	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q11.2	EPHA6	rs7650621-C	0.0060	2E-6	(IGF1 free )	0.04	[NR] ng/mL increase	Illumina [899892]	N
1326	chr3	97168739	97168740	rs1458303	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Cu levels)	2,603 European ancestry individuals	NA	3q11.2	EPHA6	rs1458303-?	NR	3E-7		2.978	[1.84-4.12] unit increase	Illumina [> 2500000] (imputed)	N
1332	chr3	98034525	98034526	rs1497546	19483685	Daly AK	2009-05-31	Nat Genet	HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.	Drug-induced liver injury (flucloxacillin)	58 European ancestry cases, 282 European ancestry controls	NA	3q11.2	OR5H2	rs1497546-?	0.02	2E-7		6.57	[NR]	Illumina [866399]	N
1339	chr3	98833074	98833075	rs72932726	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	3q12.1	DCBLD2	rs72932726-A	0.11	3E-7	(Right HG area)	13.74	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1340	chr3	99064219	99064220	rs2623384	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	3q12.1	COL8A1	rs2623384-G	0.39	9E-6	(Left superior frontal gyrus)	724.0	[NR] unit decrease	Affymetrix [517946]	N
1341	chr3	99131754	99131755	rs2623325	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	3q12.1	COL8A1	rs2623325-A	0.11	4E-8		0.025	[0.015-0.035] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1341	chr3	99131754	99131755	rs2623325	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	3q12.1	COL8A1	rs2623325-A	0.11	2E-8	(EA)	0.039	[0.025-0.053] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1341	chr3	99131754	99131755	rs2623325	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	3q12.1	COL8A1	rs2623325-A	NR	7E-10		0.016	[0.010-0.022] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1341	chr3	99167106	99167107	rs2670321	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	3q12.1	intergenic	rs2670321-C	0.27	2E-6		0.16	[0.10-0.22] unit decrease	Illumina [~ 318327]	N
1342	chr3	99266336	99266337	rs13070584	20686651	Gudbjartsson DF	2010-07-29	PLoS Genet	Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.	Chronic kidney disease and serum creatinine levels	1,689 European ancestry cases, 37,076 European ancestry controls	1,972 European ancestry cases, 6,125 European ancestry controls	3q12.1	NR	rs13070584-T	0.05	2E-6	(CKD)	1.42	[1.23-1.65]	Illumina [~ 2500000] (imputed)	N
1343	chr3	99396271	99396272	rs13095226	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	3q12.1	COL8A1	rs13095226-C	0.12	3E-6		1.24	[1.13-1.35]	Affymetrix [632932]	N
1343	chr3	99481538	99481539	rs13081855	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	3q12.1	FILIP1L, COL8A1	rs13081855-T	0.1	4E-13		1.23	[1.17-1.29]	Affymetrix, Illumina [2442884] (imputed)	N
1344	chr3	99592595	99592596	rs813218	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	3q12.1	NR	rs813218-?	NR	1E-6	(Meta-All, NSCL/P)			NR [497084]	N
1346	chr3	99844292	99844293	rs9811920	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	3q12.1	FILIP1L, MGC4308, LOC648640, DOC1, C3ORF26, TBC1D23, COL8A1	rs9811920-A	0.3975	5E-11		0.0803	[0.056-0.104] unit increase	Illumina [2500000] (imputed)	N
1347	chr3	99956555	99956556	rs12486865	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q12.1	TBC1D23, C3orf26	rs12486865-G	0.72	7E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1351	chr3	100476712	100476713	rs9823506	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	3q12.2	ABI3BP	rs9823506-?	NR	6E-8				Affymetrix [786195]	N
1352	chr3	100536283	100536284	rs12632235	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	3q12.2	ABI3BP	rs12632235-T	0.01	5E-6		2.173913	[1.86-2.49]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
1352	chr3	100590924	100590925	rs9833094	24236485	Cornejo-Garcia JA	2013-11-01	Pharmacogenomics	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	112 European ancestry cases, 124 European ancestry controls, 120 Han Chinese ancestry cases, 101 Han Chinese ancestry controls	NA	3q12.2	ABI3BP	rs9833094-T	0.1683	5E-7	(East Asian)	2.95	[1.88-4.64]	Affymetrix [up to 644046]	N
1352	chr3	100590924	100590925	rs9833094	24236485	Cornejo-Garcia JA	2013-11-01	Pharmacogenomics	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	112 European ancestry cases, 124 European ancestry controls, 120 Han Chinese ancestry cases, 101 Han Chinese ancestry controls	NA	3q12.2	ABI3BP	rs9833094-?		2E-6				Affymetrix [up to 644046]	N
1352	chr3	100637870	100637871	rs9860250	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	3q12.2	ABI3BP	rs9860250-G	0.18	5E-7	(EA)	0.033	[0.019-0.047] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1352	chr3	100637870	100637871	rs9860250	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	3q12.2	ABI3BP	rs9860250-G	0.18	2E-9		0.036	[0.024-0.048] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1358	chr3	101411977	101411978	rs112553552	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	3q12.3	intergenic	rs112553552-?	NR	3E-6	(SF8)			Affymetrix [5476100] (imputed)	N
1359	chr3	101569725	101569726	rs616597	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	3q12.3	NFKBIZ	rs616597-C	0.77	9E-6	(EA)	1.0701488		Affymetrix, Illumina [~ 9000000] (imputed)	N
1360	chr3	101663554	101663555	rs7637230	25939698	Tsoi LC	2015-05-05	Nat Commun	Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.	Psoriasis	3,994 European ancestry cases, 7,699 European ancestry controls	6,268 European ancestry cases,  14,172 European ancestry controls, 5,033 cases, 5,707 controls	3q12.3	NFKBIZ	rs7637230-A	0.8	2E-10		1.14	[NR]	Illumina [696365] (imputed)	N
1361	chr3	101748637	101748638	rs771767	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3q12.3	NFKBIZ	rs771767-A	NR	9E-9		1.1	[1.09-1.12]	Illumina [465434]	N
1361	chr3	101774042	101774043	rs991258	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	3q12.3	intergenic	rs991258-?	NR	5E-7	(ShaftW1)			Affymetrix [70897]	N
1362	chr3	101848560	101848561	rs10212363	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	3q12.3	LOC152225, ZPLD1	rs10212363-A	0.22	2E-6	(Hispanic, Alcohol intake)	0.73	[0.43-1.02] unit increase	Affymetrix [706791]	N
1364	chr3	102203044	102203045	rs2063640	23834954	Kobayashi D	2013-07-08	Mol Pain	Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.	Sensory disturbances after bilateral sagittal split ramus osteotomy	Up to 105 individuals	Up to 200 individuals	3q12.3	ZPLD1, ARID1B	rs2063640-?	NR	2E-6	(Hypoesthesia, Recessive)			Illumina [243229]	N
1364	chr3	102203044	102203045	rs2063640	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	3q12.3	ZPLD1	rs2063640-A	0.17	3E-6	(Chinese+Malay+Indian)	1.23	[1.13-1.34]	Illumina [~ 2000000] (imputed)	N
1372	chr3	103245091	103245092	rs1397924	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs1397924-T	NR	1E-6		0.092	[0.055-0.129] unit decrease	Illumina [628922]	N
1373	chr3	103292225	103292226	rs4856162	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs4856162-G	NR	1E-6		0.091	[0.054-0.128] unit increase	Illumina [628922]	N
1373	chr3	103307641	103307642	rs7612581	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs7612581-T	NR	2E-6		0.088	[0.053-0.123] unit increase	Illumina [628922]	N
1373	chr3	103331482	103331483	rs9820695	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs9820695-G	NR	9E-7		0.091	[0.054-0.128] unit increase	Illumina [628922]	N
1373	chr3	103345438	103345439	rs9821642	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs9821642-G	NR	7E-7		0.092	[0.055-0.129] unit decrease	Illumina [628922]	N
1373	chr3	103359217	103359218	rs10937540	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs10937540-T	NR	4E-7		0.091	[0.056-0.126] unit decrease	Illumina [628922]	N
1373	chr3	103363060	103363061	rs10937544	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs10937544-C	NR	6E-6		0.088	[0.051-0.125] unit decrease	Illumina [628922]	N
1373	chr3	103380851	103380852	rs6775909	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs6775909-T	NR	6E-7		0.09	[0.055-0.125] unit increase	Illumina [628922]	N
1373	chr3	103397768	103397769	rs12485744	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs12485744-T	NR	2E-6		0.091	[0.054-0.128] unit increase	Illumina [628922]	N
1373	chr3	103400081	103400082	rs7628767	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs7628767-G	NR	1E-6		0.087	[0.052-0.122] unit increase	Illumina [628922]	N
1373	chr3	103403513	103403514	rs10511217	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs10511217-T	NR	2E-6		0.092	[0.055-0.129] unit decrease	Illumina [628922]	N
1374	chr3	103438873	103438874	rs4493441	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	3q13.11	intergenic	rs4493441-G	NR	1E-6		0.087	[0.052-0.122] unit increase	Illumina [628922]	N
1374	chr3	103450590	103450591	rs2677247	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q13.11	NR	rs2677247-C	0.602245139804096	9E-6	(IGP62)	0.1417	[0.079-0.204] unit decrease	Illumina [~ 2500000] (imputed)	N
1374	chr3	103513435	103513436	rs1673866	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q13.11	NR	rs1673866-C	0.63878196306186	7E-6	(IGP47)	0.1439	[0.081-0.206] unit increase	Illumina [~ 2500000] (imputed)	N
1380	chr3	104281079	104281080	rs140092704	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	3q13.11	NR	rs140092704-?		5E-7	(PCB153)	0.76	[0.47-1.05] unit decrease	Illumina [8736858] (imputed)	N
1380	chr3	104289714	104289715	rs12637047	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	8,631 European ancestry individuals	NA	3q13.11	ALCAM	rs12637047-T	0.386	2E-6		0.06	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1381	chr3	104418572	104418573	rs2685056	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3q13.11	ALCAM	rs2685056-?	0.35	4E-8		2.5813	[1.939965-3.434586]	Illumina [859311]	N
1383	chr3	104617972	104617973	rs1436351	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q13.11	ALCAM	rs1436351-T	0.755	8E-6	(EA)	0.016	[0.0087-0.0229] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1383	chr3	104617972	104617973	rs1436351	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q13.11	ALCAM	rs1436351-T	0.745	4E-6		0.016	[0.009-0.0224] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1386	chr3	105010889	105010890	rs9810233	22704111	Hotaling JM	2012-06-13	J Urol	Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.	Erectile dysfunction in type 1 diabetes	125 European ancestry cases, 403 European ancestry controls	NA	3q13.11	ALCAM	rs9810233-G	0.270	7E-7				Illumina [840354]	N
1390	chr3	105586713	105586714	rs9657904	20453840	Sanna S	2010-05-09	Nat Genet	Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.	Multiple sclerosis	882 Sardinian cases, 872 Sardinian controls	1,775 Sardinian cases, 2,005 Sardinian controls	3q13.11	CBLB	rs9657904-T	0.826	2E-10		1.4	[1.27-1.57]	Affymetrix [6607266] (imputed)	N
1395	chr3	106288949	106288950	rs12491921	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	3q13.12	intergenic	rs12491921-?	NR	1E-6		1.39	[1.22-1.58]	Illumina [948142]	N
1395	chr3	106294461	106294462	rs79757846	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q13.12	NR	rs79757846-?	NR	4E-6	(EA)	0.9748	[0.57-1.38] unit decrease	Illumina [up to 11892802] (imputed)	N
1399	chr3	106734130	106734131	rs2399126	25387708	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of acoustic startle eye blink and affectively modulated startle response: A genome-wide association study.	Acoustic startle blink response	3,323 European ancestry twins and their parents	NA	3q13.12	intergenic	rs2399126-?	NR	6E-6	(Overall Startle Scores)	0.057	[0.032-0.082] unit decrease	Illumina [527829]	N
1404	chr3	107465816	107465817	rs6437740	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	3q13.12	BBX	rs6437740-?	0.24	2E-7	(CPD)	0.1	[NR] cigarettes per day decrease	Illumina [~ 518000]	N
1405	chr3	107544645	107544646	rs2029773	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	3q13.12	LINC00635	rs2029773-?		8E-6				Illumina [5970354] (imputed)	N
1405	chr3	107562876	107562877	rs75515191	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	3q13.12	intergenic	rs75515191-C	0.002	2E-6		15.21	[3.37-68.63]	Illumina [1556551]	N
1407	chr3	107820062	107820063	rs7640424	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q13.12	CD47	rs7640424-C	0.689	2E-6		0.015	[0.0089-0.0219] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1407	chr3	107820062	107820063	rs7640424	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q13.12	CD47	rs7640424-C	0.685	5E-6	(EA)	0.015	[0.0086-0.0216] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1410	chr3	108139427	108139428	rs2399233	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	3q13.13	MYH15	rs2399233-T	0.0875	4E-6	(O'Connor Slope)	0.057	[NR] unit decrease	Illumina [546355]	N
1410	chr3	108243550	108243551	rs2603127	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	3q13.13	MYH15	rs2603127-A	0.25	5E-6	(AT levels)	2.79	[1.59-3.99] iu/ml increase	Illumina [472123]	N
1412	chr3	108441443	108441444	rs7618314	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	3q13.13	intergenic	rs7618314-T	0.0829	2E-6	(O'Connor Slope)	0.069	[NR] unit decrease	Illumina [546355]	N
1412	chr3	108441443	108441444	rs7618314	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	3q13.13	intergenic	rs7618314-C	0.083	3E-6	(Continous PC20)	0.075	[NR] unit decrease	Illumina [546355]	N
1414	chr3	108703024	108703025	rs2593957	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	3q13.13	MORC1	rs2593957-?	0.40-0.46	2E-6	(Fiber)	1.15	[1.09-1.2]	Affymetrix, Illumina [> 2700000] (imputed)	N
1415	chr3	108851483	108851484	rs4855695	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	3q13.13	MORC1, FLJ22763	rs4855695-?	0.51-0.58	2E-6	(Fiber)	1.14	[1.08-1.20]	Affymetrix, Illumina [> 2700000] (imputed)	N
1415	chr3	108851790	108851791	rs4441659	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	3q13.13	MORC1, FLJ22763	rs4441659-A	0.122	3E-7	(n-6 PUFA)			Affymetrix [590000]	N
1418	chr3	109204412	109204413	rs769554	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	3q13.13	DPPA4	rs769554-?	NR	3E-6	(additive)			Affymetrix [361034]	N
1420	chr3	109462399	109462400	rs1164064	23761726	Yazar S	2013-06-06	Mol Vis	Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.	Corneal astigmatism	2,784 European ancestry individuals		3q13.13	DPPA4, DPPA2	rs1164064-A	NR	2E-6		0.134	[0.079-0.189] unit increase	Illumina [~ 2500000] (imputed)	N
1420	chr3	109529549	109529550	rs679711	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep depth	2,314 European ancestry individuals	NA	3q13.13	intergenic	rs679711-T	0.43	1E-6		0.1	[0.061-0.139] unit decrease	Illumina [2380486] (imputed)	N
1421	chr3	109634126	109634127	rs66800491	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	3q13.13	PVRL3	rs66800491-G	0.683	4E-44		0.078	[0.067-0.089] unit decrease	Illumina [7428049] (imputed)	N
1422	chr3	109789569	109789570	rs10934011	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (parent-of-origin)	1,024 European ancestry individuals	NA	3q13.13	intergenic	rs10934011-G	0.21	1E-9	(NESPAS CpG08_09)			Illumina [515966]	N
1423	chr3	109927375	109927376	rs13323983	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	3q13.13	AC078918.1, RP11-696F10.1	rs13323983-?	NR	5E-6				Illumina [874956]	N
1433	chr3	111166573	111166574	rs1881681	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Current cigarettes per day in chronic obstructive pulmonary disease	1,113 European ancestry cases	NA	3q13.13	intergenic	rs1881681-C	0.88	1E-6		0.363	unit increase	Illumina [~ 6300000] (imputed)	N
1433	chr3	111233238	111233239	rs56238310	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Current cigarettes per day in chronic obstructive pulmonary disease	1,113 European ancestry cases	NA	3q13.13	CD96	rs56238310-C	0.92	1E-7		0.474	unit increase	Illumina [~ 6300000] (imputed)	N
1435	chr3	111416309	111416310	rs1355767	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	3q13.2	PLCXD2	rs1355767-A	NR	1E-6		0.25	[0.15-0.35] unit decrease	NR [5896100] (imputed)	N
1435	chr3	111423128	111423129	rs4450776	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	3q13.2	PHLDB2, PLCXD2	rs4450776-?	NR	5E-6	(PC1)			Illumina [up to 563855]	N
1435	chr3	111480945	111480946	rs9868898	25557950	Alonso A	2014-12-31	Gastroenterology	Identification of Risk Loci for Crohn's Disease Phenotypes Using a Genome-wide Association Study.	Crohn's disease-related phenotypes	up to 1,090 Southern European ancestry Crohn's disease cases	up to 1,296 Southern European ancestry Crohn's disease cases	3q13.2	PHLDB2	rs9868898-G	0.16	2E-6	(Perianal disease)	1.49	[1.26-1.76]	Illumina [539846]	N
1436	chr3	111587244	111587245	rs56343172	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	3q13.2	HLA	rs56343172-T	0.031	8E-8	(trend)	5.15	[2.65-10.01] (allelic)	Affymetrix [522980]	N
1437	chr3	111792593	111792594	rs16859140	24478790	Lee JH	2014-01-17	Front Genet	Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.	Telomere length	4,829 European ancestry individuals from 586 families with exceptional longevity	NA	3q13.2	TMPRSS7	rs16859140-C	0.282	5E-6			[NR]	Illumina [9250000] (imputed)	N
1441	chr3	112269286	112269287	rs2705520	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	3q13.2	ATG3	rs2705520-?	NR	2E-6				Affymetrix [786195]	N
1442	chr3	112376307	112376308	rs12634229	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	3q13.2	CCDC80, LOC100630917	rs12634229-G	0.327	2E-19		1.29	[1.22-1.37]	Illumina [606164]	N
1443	chr3	112497879	112497880	rs1002979	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	3q13.2	CD200R1L	rs1002979-?	NR	3E-6	(rs12621278)	1.5873	[1.32-1.92]	Affymetrix, Illumina [1117531] (imputed)	N
1444	chr3	112681584	112681585	rs1488193	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	3q13.2	CD200R1	rs1488193-G	NR	6E-6	(Economic policy)	0.23	[0.13-0.33] unit decrease	Illumina [628922]	N
1445	chr3	112822321	112822322	rs9811423	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	3q13.2	RP11-572M11.4	rs9811423-?	0.47	4E-6		1.28	[NR]	Illumina [1847262] (imputed)	N
1447	chr3	112995073	112995074	rs775227	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	3q13.2	BOC	rs775227-?	NR	2E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1447	chr3	113046639	113046640	rs13064411	25089948	Theusch E	2014-10-01	Pharmacogenet Genomics	Ancestry and other genetic associations with plasma PCSK9 response to simvastatin.	Response to simvastatin treatment (PCSK9 protein level change)	562 European ancestry individuals	287 African American individuals	3q13.2	WDR52	rs13064411-G	0.153	8E-8	(EA)	0.142	[NR] unit increase	Illumina [570422]	N
1449	chr3	113275623	113275624	rs7611694	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	3q13.2	WDR52-AS1, ATP6V1A, BOC, KIAA2018, MIR4446, NAA50, SIDT1, SPICE1, WDR52, WDR52-AS	rs7611694-A	0.59	4E-13		1.1	[1.08-1.14]	Illumina [~ 2600000] (imputed)	N
1449	chr3	113290467	113290468	rs13092825	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	3q13.2	SIDT1	rs13092825-?	NR	2E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1449	chr3	113370009	113370010	rs1026364	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	3q13.2	KIAA2018	rs1026364-T	0.37	4E-10	(FNBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1450	chr3	113430598	113430599	rs11711311	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q13.31	NR	rs11711311-G	0.396079672452158	4E-7	(IGP47)	0.1632	[0.1-0.227] unit decrease	Illumina [~ 2500000] (imputed)	N
1452	chr3	113650445	113650446	rs114780919	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q13.31	NR	rs114780919-?	NR	8E-8	(Latino)	1.7019	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1452	chr3	113680950	113680951	rs1386478	22482804	Ellinghaus D	2012-04-06	Am J Hum Genet	Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.	Crohn's disease and psoriasis	2,529 European ancestry psoriasis cases, 2,142 European ancestry Crohn's disease cases, 10,460 European ancestry controls	Up to 3,187 European ancestry psoriasis cases, 4,073 European ancestry Crohn's disease cases, 10,100 European ancestry controls	3q13.31	ZDHHC23	rs1386478-A	NR	7E-6	(opposite-effect analysis)	1.12	[NR]	Affymetrix, Illumina, Perlegen [1116213] (imputed)	N
1453	chr3	113842012	113842013	rs2087017	23903073	Kim HN	2013-08-01	J Hum Genet	Genome-wide association study of the five-factor model of personality in young Korean women.	Personality dimensions	1,089 Korean ancestry females	2,090 Korean ancestry individuals	3q13.31	DRD3	rs2087017-A		6E-6	(Agreeableness)	0.05	[-0.0088-0.1088] unit increase	Illumina [2053685] (imputed)	N
1453	chr3	113890788	113890789	rs3732783	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	3q13.31	DRD3	rs3732783-T	0.0582	9E-6		1.8772	[NR] unit decrease	Illumina [1216189] (imputed)	N
1456	chr3	114171389	114171390	rs9883949	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q13.31	NR	rs9883949-C	NR	9E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1457	chr3	114362763	114362764	rs9841504	22037551	Shi Y	2011-10-30	Nat Genet	A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1.	Gastric cancer	1,006 Han Chinese ancestry cases, 2,273 Han Chinese ancestry controls	3,288 Han Chinese ancestry cases, 3,609 Han Chinese ancestry controls	3q13.31	ZBTB20	rs9841504-?	NR	2E-9		1.32	[1.20-1.45]	Affymetrix [555896]	N
1458	chr3	114483412	114483413	rs3732481	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	3q13.31	ZBTB20	rs3732481-?	NR	3E-6			[NR]	Illumina [283437]	N
1462	chr3	114983655	114983656	rs75080020	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q13.31	NR	rs75080020-T	NR	6E-6		1.13	[NR]	Illumina [7158791] (imputed)	N
1462	chr3	115069148	115069149	rs10514758	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	3q13.31	ZBTB20, GAP43	rs10514758-G	0.02	5E-6	(women)	0.321	[0.18-0.46] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1464	chr3	115278681	115278682	rs16823858	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	3q13.31	ZBTB20	rs16823858-A	0.06667	8E-7	(Xin)	1.294	unit decrease	Illumina [up to 528294]	N
1468	chr3	115740718	115740719	rs16824395	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	3q13.31	NR	rs16824395-A	0.94	6E-6		1.92	[1.63-2.21]	Illumina [4058415] (imputed)	N
1469	chr3	115928170	115928171	rs111646341	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	3q13.31	LSAMP	rs111646341-A	NR	9E-7	(Perc15, All)	5.8	[2.27-9.33] unit increase	Illumina [7600000] (imputed)	N
1469	chr3	115933588	115933589	rs149183310	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	3q13.31	Mir_340, LSAMP	rs149183310-T	0.044	2E-6		1.52	[NR]	Illumina [7659573] (imputed)	N
1471	chr3	116181024	116181025	rs16824957	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	3q13.31	NR	rs16824957-?		7E-6		0.157	[0.089-0.225] unit decrease	Illumina [> 269840] (imputed)	N
1473	chr3	116445323	116445324	rs1432364	21130132	Mick E	2010-12-01	Prog Neuropsychopharmacol Biol Psychiatry	Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.	Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)	140 child cases	NA	3q13.31	intergenic	rs1432364-T	0.422	4E-6				Affymetrix [316934]	N
1475	chr3	116761659	116761660	rs1521418	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	3q13.31	intergenic	rs1521418-C	0.111	8E-6	(Stroop)	0.2105	[0.12-0.30] unit decrease	Affymetrix [> 371951] (imputed)	N
1477	chr3	117027511	117027512	rs7632070	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q13.31	NR	rs7632070-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
1478	chr3	117156254	117156255	rs9870146	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q13.31	PTMAP8	rs9870146-G	0.497	9E-6	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1479	chr3	117243795	117243796	rs72951640	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	3q13.31	intergenic	rs72951640-T	0.014	5E-6		0.408	[0.23-0.58] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1479	chr3	117307566	117307567	rs1875517	17903300	Fox CS	2007-09-19	BMC Med Genet	Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.	Waist circumference	1,079 European ancestry individuals from 310 families	NA	3q13.31	intergenic	rs1875517-?	NR	2E-6				Affymetrix [70897]	N
1481	chr3	117562435	117562436	rs11715566	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3q13.32	IGSF11	rs11715566-T	0.5	2E-27		0.05	[0.04-0.06] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1482	chr3	117574821	117574822	rs6438424	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	3q13.32	intergenic	rs6438424-A	0.50	1E-13		2.7	[1.92-3.48] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1483	chr3	117719537	117719538	rs1499972	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q13.32	NR	rs1499972-C	NR	3E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1486	chr3	118101725	118101726	rs10934447	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	3q13.32	NR	rs10934447-A	NR	4E-6		0.035	[0.021-0.049] unit increase	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
1486	chr3	118121334	118121335	rs488628	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity (interaction)	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	3q13.32	intergenic	rs488628-?	0.21	6E-7				Illumina [565404]	N
1486	chr3	118162622	118162623	rs10511378	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q13.32	IGSF11	rs10511378-G	0.112	1E-6	(IGFBP-1 )	0.04	[NR] ng/mL increase	Illumina [899892]	N
1489	chr3	118615462	118615463	rs1879553	26227905	Hu Y	2015-07-31	Mol Neurobiol	A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.	Parkinson's disease	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3q13.32	LOC285194, IGSF11	rs1879553-?	NR	1E-6		2.83	[1.98-4.04]	Illumina [862198]	N
1490	chr3	118676491	118676492	rs4687833	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	3q13.32	NR	rs4687833-?		4E-6	(AA)			Illumina [up to 524000]	N
1490	chr3	118745935	118745936	rs2160050	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	3q13.32	IGSF11	rs2160050-?	NR	9E-6	(SF3)			Affymetrix [5476100] (imputed)	N
1492	chr3	118935998	118935999	rs6438504	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	3q13.32	B4GALT4	rs6438504-?	NR	9E-6	(AUC)			NR [2092490]	N
1493	chr3	119084330	119084331	rs17203055	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	3q13.33	ARHGAP31	rs17203055-?	0.87	5E-6	(EA)	1.43	[NR]	NR [1085772] (imputed)	N
1493	chr3	119118795	119118796	rs11712165	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	3q13.33	CD80, KTELC1	rs11712165-C	0.39	8E-9		1.13	[1.08-1.17]	Illumina [292387]	N
1494	chr3	119147957	119147958	rs16829840	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	8,631 European ancestry individuals	NA	3q13.33	TMEM39A	rs16829840-T	0.014	3E-8		0.46	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1494	chr3	119219933	119219934	rs2293370	23000144	Nakamura M	2012-09-18	Am J Hum Genet	Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.	Primary biliary cirrhosis	487 Japanese ancestry cases, 476 Japanese ancestry controls	787 Japanese ancestry cases, 615 Japanese ancestry controls	3q13.33	CD80	rs2293370-C	NR	3E-9		1.48	[1.29-1.68]	Affymetrix [421245]	N
1494	chr3	119219933	119219934	rs2293370	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3q13.33	C3orf1, TMEM39A	rs2293370-G	NR	3E-9		1.13	[1.11-1.15]	Illumina [465434]	N
1494	chr3	119219933	119219934	rs2293370	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	3q13.33	CD80	rs2293370-G	0.80	3E-11		1.35	[1.23-1.47]	Illumina [507467]	N
1494	chr3	119227246	119227247	rs4688011	22354554	Thompson SD	2012-02-21	Arthritis Rheum	Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.	Arthritis (juvenile idiopathic)	814 European ancestry cases, 658 European ancestry controls, 2,400 controls	1,744 European ancestry cases, 7,010 European ancestry controls	3q13.33	C3orf1	rs4688011-T	0.19	1E-7		1.23	[1.13-1.33]	Affymetrix [561137]	N
1494	chr3	119260943	119260944	rs6804441	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	3q13.33	CD80	rs6804441-A	0.61	3E-16		1.2658		Illumina [2100739] (imputed)	N
1494	chr3	119261374	119261375	rs7648642	24080446	Rudolph A	2013-11-04	Endocr Relat Cancer	Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.	Lobular breast cancer (menopausal hormone therapy interaction)	541 European ancestry cases	676 European ancestry cases, 9,266 European ancestry controls	3q13.33	CD80	rs7648642-?		5E-6		1.5625	[1.28-1.89]	Illumina [2500000] (imputed)	N
1494	chr3	119272390	119272391	rs2222631	25862617	Zhang Y	2015-04-10	Ann Rheum Dis	Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations.	Systemic lupus erythematosus	1,656 Chinese ancestry cases, 3,394 Chinese ancestry controls	2,152 Chinese ancestry cases, 2,476 Chinese ancestry controls, 460 Thai ancestry cases, 965 Thai ancestry controls	3q13.33	CD80	rs2222631-?		5E-8		1.16	[1.10-1.23]	Illumina [up to 493645]	N
1495	chr3	119288413	119288414	rs59374417	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	3q13.33	CD80	rs59374417-C	0.13	4E-10		1.34	[NR]	Illumina [495821]	N
1497	chr3	119560605	119560606	rs6805251	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	3q13.33	GSK3B	rs6805251-T	0.39	1E-8		0.02	[NR] unit increase	NR [NR] (imputed)	N
1500	chr3	120017479	120017480	rs796825	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 susceptibility	496 African ancestry cases and 302 African ancestry exposed controls from serodiscordant couples	NA	3q13.33	LRRC58	rs796825-?	NR	8E-6				Illumina [990115]	N
1500	chr3	120043835	120043836	rs10511400	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	3q13.33	LRRC58	rs10511400-T	NR	8E-6		0.157	[0.088-0.226] unit increase	Illumina [628922]	N
1502	chr3	120236328	120236329	rs9289146	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q13.33	FSTL1	rs9289146-A	0.09	7E-6	(RQmax)	0.04	[NR] increase	Illumina [899892]	N
1503	chr3	120425330	120425331	rs13077101	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q13.33	GTF2E1, RABL3	rs13077101-G	0.177	2E-7	(AST/ALT)	0.03	[NR] unit increase	Illumina [899892]	N
1503	chr3	120425330	120425331	rs13077101	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q13.33	GTF2E1, RABL3	rs13077101-G	0.177	1E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1504	chr3	120585314	120585315	rs322458	23223146	Le Clerc S	2012-12-06	J Invest Dermatol	A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.	Aging (facial)	502 European ancestry females	NA	3q13.33	POLQ, FBXO40, STXBP5L	rs322458-?,rs6775899-?	NR	1E-9	(rs322458-G, rs6775899-A)			Illumina [795063]	N
1504	chr3	120585314	120585315	rs322458	23223146	Le Clerc S	2012-12-06	J Invest Dermatol	A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.	Aging (facial)	502 European ancestry females	NA	3q13.33	FBXO40, STXBP5L	rs322458-G	NR	2E-8				Illumina [795063]	N
1504	chr3	120585314	120585315	rs322458	23223146	Le Clerc S	2012-12-06	J Invest Dermatol	A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.	Aging (facial)	502 European ancestry females	NA	3q13.33	FBXO40, STXBP5L	rs322458-?,rs6782025-?	NR	4E-9	(rs322458-G, rs6782025-A)			Illumina [795063]	N
1504	chr3	120585314	120585315	rs322458	23223146	Le Clerc S	2012-12-06	J Invest Dermatol	A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.	Aging (facial)	502 European ancestry females	NA	3q13.33	FBXO40, STXBP5L	rs322458-?,rs17740066-?	NR	6E-9	(rs322458-G, rs17740066-G)			Illumina [795063]	N
1508	chr3	121084466	121084467	rs11707293	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	3q13.33	STXBP5L	rs11707293-?		5E-6	(Hispanic)	14.2	[NR]	Illumina [936149]	N
1508	chr3	121100282	121100283	rs17740066	23223146	Le Clerc S	2012-12-06	J Invest Dermatol	A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.	Aging (facial)	502 European ancestry females	NA	3q13.33	FBXO40, STXBP5L	rs322458-?,rs17740066-?	NR	6E-9	(rs322458-G, rs17740066-G)			Illumina [795063]	N
1509	chr3	121137975	121137976	rs6782025	23223146	Le Clerc S	2012-12-06	J Invest Dermatol	A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.	Aging (facial)	502 European ancestry females	NA	3q13.33	FBXO40, STXBP5L	rs322458-?,rs6782025-?	NR	4E-9	(rs322458-G, rs6782025-A)			Illumina [795063]	N
1509	chr3	121154192	121154193	rs6800901	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		3q13.33	NR	rs6800901-A	0.34	2E-6	(Any IgH translocation vs. controls)	1.31	[1.17-1.47]	Illumina [414804] (imputed)	N
1510	chr3	121300727	121300728	rs13096657	26256467	Wojczynski MK	2015-07-03	Metabolism	Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).	Postprandial triglyceride response to high fat diet meal	872 European ancestry individuals	843 Old Order Amish individuals	3q13.33	ARGFX	rs13096657-C	0.8603	4E-7	(Uptake slope)	0.3713	[0.23-0.51] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1510	chr3	121300727	121300728	rs13096657	26256467	Wojczynski MK	2015-07-03	Metabolism	Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).	Postprandial triglyceride response to high fat diet meal	872 European ancestry individuals	843 Old Order Amish individuals	3q13.33	ARGFX	rs13096657-C	0.8601	9E-7	(AUI)	0.3634	[0.22-0.51] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1510	chr3	121319823	121319824	rs6775899	23223146	Le Clerc S	2012-12-06	J Invest Dermatol	A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.	Aging (facial)	502 European ancestry females	NA	3q13.33	POLQ, FBXO40, STXBP5L	rs322458-?,rs6775899-?	NR	1E-9	(rs322458-G, rs6775899-A)			Illumina [795063]	N
1510	chr3	121326675	121326676	rs9869689	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	3q13.33	FBXO40	rs9869689-T	0.1	3E-6		1.21	[1.12-1.31]	NR [NR]	N
1510	chr3	121344139	121344140	rs3772130	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	3q13.33	FBXO40	rs3772130-?	0.2284	6E-6	(PC1)			Illumina [475971]	N
1513	chr3	121660663	121660664	rs4285028	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3q13.33	SLC15A2, CD86	rs4285028-A	NR	2E-8	(Conditioned on rs9282641)	1.1	[1.09-1.12]	Illumina [465434]	N
1514	chr3	121769521	121769522	rs2681424	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	3q13.33	ILDR1, CD86	rs2681424-T	0.40	2E-7		1.16	[NR]	Affymetrix, Illumina [2529394]	N
1514	chr3	121793186	121793187	rs4308217	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3q13.33	CD86	rs4308217-C	NR	6E-8	(Conditioned on rs4285028, rs9282641)	1.1	[1.08-1.11]	Illumina [465434]	N
1514	chr3	121796767	121796768	rs9282641	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3q13.33	CD86	rs9282641-G	NR	1E-11		1.21	[1.18-1.24]	Illumina [465434]	N
1514	chr3	121817612	121817613	rs2681416	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	3q13.33	CD86	rs2681416-A	0.311	2E-7		1.16	[1.09-1.22]	Illumina [up to 21554489]	N
1514	chr3	121817612	121817613	rs2681416	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	3q13.33	CD86	rs2681416-A	0.311	8E-8		1.16	[1.10-1.23]	Illumina [8363971] (imputed)	N
1515	chr3	121946098	121946099	rs7627468	26272126	Oddsson A	2015-08-14	Nat Commun	Common and rare variants associated with kidney stones and biochemical traits.	Kidney stones	5,149 European ancestry cases, 279,870 European ancestry controls (includes non-array genotyped, whole-genome imputed individuals)	NA	3q21.1	CASR	rs7627468-A	0.268	2E-8		1.16	[NR]	Illumina [28300000] (imputed)	N
1515	chr3	121993246	121993247	rs17251221	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	3q21.1	CASR, WDR5B, C3orf28, CCDC58, CSTA, KPNA1	rs17251221-G	0.14	2E-22		0.06	[0.05-0.07] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1515	chr3	122003756	122003757	rs1801725	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Calcium levels	5,261 European ancestry children, 3,817 African-American ancestry children		3q21.1	CASR	rs1801725-T	NR	2E-6		0.0566	[NR] mg/dl increase	Illumina [up to 507950]	N
1515	chr3	122003756	122003757	rs1801725	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	3q21.1	CASR	rs1801725-T	0.15	9E-86		0.071	[0.063-0.079] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1515	chr3	122003756	122003757	rs1801725	20661308	Kapur K	2010-07-22	PLoS Genet	Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.	Calcium levels	8,918 European ancestry individuals, 3,947 Indian Asian ancestry individuals	4,126 European ancestry individuals	3q21.1	CASR	rs1801725-T	0.1775	6E-37		0.0	[0.0031-0.0042] log(CASR, mmol/L) increase	Affymetrix, Illumina, Perlegen [2557252] (imputed)	N
1515	chr3	122014565	122014566	rs13083990	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	3q21.1	CASR	rs13083990-T	NR	4E-6	(Dichotomous variable)	2.66	[1.76-4.02]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1515	chr3	122026088	122026089	rs13068893	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	3q21.1	CASR	rs13068893-G	0.44	4E-8		0.00208	[0.0013-0.0028] unit decrease	Affymetrix [1219546] (imputed)	N
1516	chr3	122039029	122039030	rs4678181	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	3q21.1	CSTA	rs4678181-A	0.44	1E-7		0.00202	[0.0013-0.0028] unit decrease	Affymetrix [1219546] (imputed)	N
1516	chr3	122048643	122048644	rs17265703	20558539	Kestenbaum B	2010-06-17	J Am Soc Nephrol	Common genetic variants associate with serum phosphorus concentration.	Phosphorus levels	16,264 European ancestry individuals	5,444 individuals	3q21.1	CASR, CCDC58	rs17265703-G	0.15	4E-9		0.04	[NR] mg/dl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1518	chr3	122329159	122329160	rs2173763	22472876	Sullivan	2012-04-03	Mol Psychiatry	A mega-analysis of genome-wide association studies for major depressive disorder.	Major depressive disorder	9,240 European ancestry cases, 9,519 European ancestry controls	6,783 European ancestry cases, 50,695 European ancestry controls	3q21.1	PARP9, DTX3L, PARP15	rs2173763-?	NR	6E-6				Affymetrix, Illumina, Perlegen [~ 1200000] (imputed)	N
1518	chr3	122356450	122356451	rs78411303	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	3q21.1	PARP15	rs78411303-?	0.094	3E-6	(Age 20-60 years)	1.96	[1.47-2.56]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1518	chr3	122368346	122368347	rs2650951	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	3q21.1	intergenic	rs2650951-A	0.05	1E-6		0.29	[0.17-0.41] unit decrease	Illumina [~ 318327]	N
1518	chr3	122380922	122380923	rs790116	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy)	394 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	3q21.1	EIF4BP8	rs790116-G	NR	2E-7	(AA)			Affymetrix [~ 2300000] (imputed)	N
1518	chr3	122384019	122384020	rs790110	25387708	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of acoustic startle eye blink and affectively modulated startle response: A genome-wide association study.	Acoustic startle blink response	3,323 European ancestry twins and their parents	NA	3q21.1	intergenic	rs790110-?	NR	9E-8	(Aversive Difference Startle Scores)	0.182	[0.12-0.25] unit decrease	Illumina [527829]	N
1518	chr3	122388992	122388993	rs790123	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	3q21.1	EIF4BP8	rs790123-T	NR	6E-6	(AA)	1.07	[0.58-1.56] unit increase	Affymetrix [~ 2300000] (imputed)	N
1521	chr3	122730909	122730910	rs9868873	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	3q21.1	SEMA5B	rs9868873-G	0.82	1E-7		1.19	[1.11-1.27]	Affymetrix [666141]	N
1522	chr3	122839875	122839876	rs3792366	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	3q21.1	PDIA5	rs3792366-G	NR	4E-9		2.153	[1.44-2.87] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1523	chr3	123003297	123003298	rs13317079	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q21.1	ADCY5	rs13317079-A	0.042	2E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1523	chr3	123065777	123065778	rs11708067	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	3q21.1	ADCY5	rs11708067-A	0.78	6E-8	(Lean)	1.25	[1.15-1.35]	NR [NR]	N
1523	chr3	123065777	123065778	rs11708067	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	3q21.1	ADCY5	rs11708067-?	NR	3E-10				Affymetrix, Illumina [~ 2400000] (imputed)	N
1523	chr3	123065777	123065778	rs11708067	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	3q21.1	ADCY5	rs11708067-A	0.78	7E-22	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1523	chr3	123065777	123065778	rs11708067	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	3q21.1	ADCY5	rs11708067-A	0.78	3E-12	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1524	chr3	123082397	123082398	rs11717195	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	3q21.1	ADCY5	rs11717195-T	0.78	2E-8		1.09	[1.05-1.14]	Affymetrix, Illumina [2500000] (imputed)	N
1524	chr3	123093540	123093541	rs2124499	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q21.1	ADCY5	rs2124499-G	0.625	6E-6		0.014	[0.0081-0.0203] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1524	chr3	123093540	123093541	rs2124499	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q21.1	ADCY5	rs2124499-G	0.621	8E-6	(EA)	0.014	[0.0081-0.0207] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1524	chr3	123094450	123094451	rs2877716	20081857	Saxena R	2010-01-17	Nat Genet	Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.	Two-hour glucose challenge	15,234 individuals	up to 30,620 European ancestry individuals	3q21.1	ADCY5	rs2877716-C	NR	7E-16		0.09	[0.07-0.11] mmol/L increase	Affymetrix, Illumina [NR]	N
1524	chr3	123096819	123096820	rs9883204	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	3q21.1	ADCY5	rs9883204-C	0.76	6E-20		0.059	[0.047-0.071] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
1524	chr3	123096819	123096820	rs9883204	20372150	Freathy RM	2010-04-06	Nat Genet	Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.	Birth weight	10,623 European ancestry individuals	27,591 European ancestry individuals, 1,415 Filipino ancestry individuals, 746 North African ancestry individuals, 333 Turkish ancestry individuals	3q21.1	ADCY5	rs9883204-C		7E-15		0.06	[0.047-0.079] s.d. decrease	Affymetrix, Illumina [~ 2400000] (imputed)	N
1524	chr3	123137561	123137562	rs151013628	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	3q21.1	NR	rs151013628-?		4E-7	(PCB74)	1.29	[0.8-1.78] unit increase	Illumina [8736858] (imputed)	N
1529	chr3	123824460	123824461	rs13067260	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q21.2	NR	rs13067260-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1531	chr3	124083169	124083170	rs504918	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q21.2	NR	rs504918-C	NR	2E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1533	chr3	124300256	124300257	rs2010099	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	3q21.2	KALRN	rs2010099-C	0.91	3E-8		0.024	[0.0091-0.0389] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
1533	chr3	124328493	124328494	rs333332	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	3q21.2	KALRN	rs333332-T	0.33	2E-6	(Left HG area)	13.81	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
1533	chr3	124340221	124340222	rs10512627	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	3q21.2	KALRN	rs10512627-C	NR	5E-10		0.006	[0.004-0.008] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1543	chr3	125592856	125592857	rs71327718	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/5-HIAA ratio)	up to 398 European ancestry individuals	NA	3q21.2	intergenic	rs71327718-G		7E-6		0.2152	unit increase	Illumina [5767231] (imputed)	N
1543	chr3	125649402	125649403	rs7615952	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	3q21.2	LOC200810	rs7615952-?	NR	5E-7	(DBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1543	chr3	125649402	125649403	rs7615952	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	3q21.2	LOC200810	rs7615952-?	NR	4E-6	(DBP,CPD)			Affymetrix [2485435] (imputed)	N
1545	chr3	125900952	125900953	rs114542799	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q21.3	NR	rs114542799-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1545	chr3	125904164	125904165	rs1107366	23378610	Xie W	2013-02-01	Diabetes	Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.	Metabolite levels	1,004 European ancestry individuals	339 European ancestry individuals	3q21.3	ALDH1L1, KLF15	rs1107366-G	0.51	2E-6	(glycine/serine)	0.019	[0.011-0.027] unit increase	Affymetrix [909508] (imputed)	N
1545	chr3	125906178	125906179	rs10934753	24651765	Williams SR	2014-03-20	PLoS Genet	Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.	Plasma homocysteine levels (post-methionine load test)	2,710 European and other ancestry individuals, 1,725 European ancestry individuals, 258 African ancestry individuals, 117 individuals	NA	3q21.3	ALDH1L1	rs10934753-A	0.43	7E-13		0.193	[0.14-0.25] unit increase	Affymetrix, Illumina [up to 11000000] (imputed)	N
1552	chr3	126787158	126787159	rs11921451	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3q21.3	C3orf56	rs11921451-?		5E-6				Illumina [859311]	N
1553	chr3	126950125	126950126	rs4234284	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel)	62 Japanese ancestry cases, 42 Japanese ancestry controls	NA	3q21.3	C3orf56	rs4234284-T	0.23	3E-6	(Dominant)	3.01	[1.62-5.6]	Illumina [555600]	N
1553	chr3	126961147	126961148	rs13075436	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	3q21.3	AC112482.3	rs13075436-C	NR	6E-6	(AA)	1.3	[0.71-1.89] unit decrease	Affymetrix [~ 2300000] (imputed)	N
1553	chr3	126993098	126993099	rs9871760	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Whole-brain volume	434 European ancestry mild cognitive impairment cases, 245 European ancestry Alzheimer's disease cases, 284 European ancestry controls	NA	3q21.3	PLXNA1	rs9871760-?	NR	4E-6		0.007	[NR] unit decrease	Illumina [478011]	N
1554	chr3	127078339	127078340	rs7428297	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	3q21.3	intergenic	rs7428297-T	0.125	8E-6		2.0602	[1.74-2.38]	Illumina [8809853] (imputed)	N
1555	chr3	127144992	127144993	rs9289301	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	3q21.3	intergenic	rs9289301-C	0.155	8E-7		0.031	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1559	chr3	127742364	127742365	rs11712112	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q21.3	NR	rs11712112-A	NR	4E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
1560	chr3	127892036	127892037	rs2999052	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	3q21.3	EEFSEC	rs2999052-T	0.738	1E-26		1.55	[NR]	Illumina [8207076] (imputed)	N
1560	chr3	127892850	127892851	rs2811474	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q21.3	NR	rs2811474-G	NR	9E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1560	chr3	127895225	127895226	rs2687729	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3q21.3	EEFSEC	rs2687729-G	0.27	1E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1560	chr3	127895225	127895226	rs2687729	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	3q21.3	EEFSEC	rs2687729-G	0.27	1E-7		2.3	[1.52-3.08] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1561	chr3	128038372	128038373	rs10934853	19767754	Gudmundsson J	2009-09-20	Nat Genet	Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.	Prostate cancer	Up to 1,968 European ancestry cases, 35,382 European ancestry controls	Up to 11,806 European ancestry cases, 12,387 European ancestry controls	3q21.3	intergenic	rs10934853-A	0.28	3E-10		1.12	[1.08-1.16]	Illumina [310520]	N
1562	chr3	128169861	128169862	rs2659703	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	3q21.3	DNAJB8	rs2659703-A	0.4	3E-6				Affymetrix, Illumina [~ 2500000] (imputed)	N
1562	chr3	128187233	128187234	rs76939711	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q21.3	NR	rs76939711-A	NR	3E-6		1.2	[NR]	Illumina [7158791] (imputed)	N
1563	chr3	128220223	128220224	rs7635966	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	3q21.3	NR	rs7635966-?	NR	8E-6		5.968	[3.45-8.48] unit decrease	Illumina [498648]	N
1563	chr3	128220223	128220224	rs7635966	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	3q21.3	NR	rs7635966-?	NR	5E-6		16.91	[9.94-23.88] unit decrease	Illumina [498648]	N
1563	chr3	128260549	128260550	rs4857855	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	3q21.3	GATA2	rs4857855-T	0.82	9E-17	(EA)	9.4	[7.2-11.6] % standard unit increase	Illumina [312179]	N
1563	chr3	128282696	128282697	rs6806253	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Pit-and-Fissure caries	996 European ancestry individuals		3q21.3	NR	rs6806253-A	0.8295	6E-6		1.5595	[NR] unit decrease	Illumina [1200000] (imputed)	N
1563	chr3	128297568	128297569	rs9880192	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	3q21.3	C3orf27	rs9880192-C	0.441	1E-8	(EA)	0.028	[0.018-0.038] unit decrease	Illumina [NR] (imputed)	N
1563	chr3	128297568	128297569	rs9880192	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	3q21.3	RPN1, LOC90246, C3orf27, GATA2	rs9880192-C		6E-13	(Monocytes)	0.028	[0.020-0.036] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
1563	chr3	128316434	128316435	rs4328821	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	3q21.3	RPN1, LOC90246, C3orf27	rs4328821-A		4E-13	(Basophils)	0.01	[0.0073-0.0127] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
1563	chr3	128316434	128316435	rs4328821	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	3q21.3	GATA2	rs4328821-A	0.66	5E-40	(basophil count)	0.161	[0.14-0.18] unit increase	Illumina [2178645] (imputed)	N
1563	chr3	128316434	128316435	rs4328821	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	3q21.3	GATA2	rs4328821-A	0.66	3E-17	(eosinophil count)	0.103	[0.08-0.12] unit increase	Illumina [2178645] (imputed)	N
1564	chr3	128338599	128338600	rs2712381	23314186	Crosslin DR	2013-03-03	Hum Mol Genet	Genetic variation associated with circulating monocyte count in the eMERGE Network.	Monocyte count	9,849 European ancestry individuals, 894 African ancestry individuals, 271 individuals	NA	3q21.3	RPN1	rs2712381-A	0.40	2E-16		0.23	unit decrease	Illumina [NR]	N
1566	chr3	128652552	128652553	rs9810890	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	3q21.3	ACAD9	rs9810890-?	NR	6E-6	(DMFS2)			Illumina [518997]	N
1566	chr3	128658491	128658492	rs2933343	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q21.3	NR	rs2933343-G	0.759492835488185	8E-6	(IGP69)	0.1615	[0.091-0.232] unit decrease	Illumina [~ 2500000] (imputed)	N
1569	chr3	129045905	129045906	rs7636293	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	3q21.3	C3orf47	rs7636293-T	0.69	4E-11		0.029	[0.015-0.043] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1569	chr3	129050755	129050756	rs6439167	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3q21.3	C3orf47	rs6439167-T	0.21	9E-15		0.034	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1569	chr3	129050942	129050943	rs6439168	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3q21.3	H1FX	rs6439168-A	0.212	8E-25		0.037	[0.029-0.045] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1570	chr3	129137126	129137127	rs3796392	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	3q21.3	C3orf25, RPL32P3, MBD4	rs3796392-A	0.002	2E-6		15.21	[3.37-68.63]	Illumina [1556551]	N
1570	chr3	129209177	129209178	rs9871967	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	3q21.3	IFT122, MBD4, RHO	rs9871967-G	0.002	3E-6		15.18	[3.36-68.47]	Illumina [1556551]	N
1571	chr3	129334232	129334233	rs10804591	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q22.1	PLXND1	rs10804591-A	0.795	7E-9	(EA)	0.0245	[0.016-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1571	chr3	129334232	129334233	rs10804591	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q22.1	PLXND1	rs10804591-A	0.793	6E-13	(EA, women)	0.0401	[0.029-0.051] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1571	chr3	129334232	129334233	rs10804591	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q22.1	PLXND1	rs10804591-A	0.7687	5E-11	(women)	0.0356	[0.025-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1571	chr3	129334232	129334233	rs10804591	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q22.1	PLXND1	rs10804591-A	0.7665	4E-8		0.0221	[0.014-0.03] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1576	chr3	129971100	129971101	rs9813712	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	3q22.1	intergenic	rs9813712-?	NR	2E-6	(SF1)			Affymetrix [5476100] (imputed)	N
1577	chr3	130137470	130137471	rs1542829	24348519	Namjou B	2013-12-03	Front Genet	EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.	Body mass index	up to 2,860 European ancestry children	NA	3q22.1	COL6A5	rs1542829-?	0.05	1E-8		5.89	[NR] z score increase	Affymetrix, Illumina [up to 583824] (imputed)	N
1588	chr3	131574484	131574485	rs9856151	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.1	CPNE4	rs9856151-A	0.27	2E-6	(EA)	0.017	[0.0098-0.0232] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1588	chr3	131574484	131574485	rs9856151	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.1	CPNE4	rs9856151-A	0.267	7E-7		0.017	[0.01-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1589	chr3	131713565	131713566	rs1320900	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	3q22.1	CPNE4	rs1320900-?	0.34	7E-6	(Joint)	1.1905	[1.09-1.3]	Illumina [254145]	N
1589	chr3	131716104	131716105	rs9834560	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	3q22.1	CPNE4	rs9834560-C	0.61	1E-14		0.041	[0.031-0.051] unit decrease	Illumina [7428049] (imputed)	N
1590	chr3	131813899	131813900	rs6775745	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	3q22.1	CPNE4	rs6775745-?	NR	2E-7				Illumina [874956]	N
1591	chr3	131864135	131864136	rs148258131	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3q22.1	NR	rs148258131-?	NR	2E-6	(Japanese)	0.7519	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1593	chr3	132163199	132163200	rs17404153	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	3q22.1	ACAD11	rs17404153-T	0.14	2E-9		0.034	[NR] unit decrease	NR [NR] (imputed)	N
1593	chr3	132163199	132163200	rs17404153	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	3q22.1	ACAD11	rs17404153-T	0.14	5E-9		0.028	[NR] unit decrease	NR [NR] (imputed)	N
1596	chr3	132610751	132610752	rs6439371	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	3q22.1	TMEM108, NPHP3	rs6439371-G	0.34	1E-8		2.3	[1.52-3.08] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1596	chr3	132615463	132615464	rs2600959	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3q22.1	ACAD11	rs2600959-A	0.34	4E-11		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1596	chr3	132622656	132622657	rs16839793	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	3q22.1	NR	rs16839793-?		5E-6		0.28	unit decrease	Illumina [1211988] (imputed)	N
1597	chr3	132693587	132693588	rs2369955	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (heaviness of drinking)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	3q22.1	intergenic	rs2369955-A	0.16	2E-6		0.136	[NR] unit decrease	Illumina [~ 300000]	N
1597	chr3	132727902	132727903	rs7617456	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	3q22.1	TMEM108	rs7617456-G	0.59	3E-6		1.18	[1.10-1.26]	Affymetrix, Illumina [2217510] (imputed)	N
1601	chr3	133260873	133260874	rs11708304	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	3q22.1	CDV3	rs11708304-C	0.853	6E-6		0.059	[0.034-0.084] unit decrease	Illumina [6150213] (imputed)	N
1602	chr3	133399701	133399702	rs2718812	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	3q22.1	TOPBP1	rs2718812-?	NR	1E-6	(serum transferrin)			Illumina [315887]	N
1602	chr3	133410647	133410648	rs1867503	25534755	Chaste P	2014-09-30	Biol Psychiatry	A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?	Autism spectrum disorder-related traits	1633 European ancestry trios, 942 trios	NA	3q22.1	intergenic	rs1867503-?	NR	4E-7	(ASD paternal model)	1.55	[1.30-1.84]	Illumina [up to 2017939]	N
1602	chr3	133410660	133410661	rs1867504	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	3q22.1	TF	rs1867504-?	NR	2E-6	(serum transferrin)			Illumina [315887]	N
1603	chr3	133457513	133457514	rs9872999	25224454	Li J	2014-09-15	Hum Mol Genet	Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.	Iron status biomarkers	2,347 African American individuals	329 African American individuals	3q22.1	TF	rs9872999-T	0.62	5E-20	(TIBC)	11.72	[9.21-14.23] unit decrease	Affymetrix [~ 17000000] (imputed)	N
1603	chr3	133463456	133463457	rs8177179	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	3q22.1	TF	rs8177179-A	0.521	3E-49		0.154	[0.13-0.17] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
1603	chr3	133475721	133475722	rs1799852	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin saturation)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	3q22.1	TF	rs1799852-T	0.098	7E-9		0.11	[0.073-0.147] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
1603	chr3	133475721	133475722	rs1799852	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	3q22.1	TF	rs1799852-?	0.09	5E-6	(serum transferrin)	0.43	[0.25-0.61] s.d. decrease	Illumina [315887]	N
1603	chr3	133475811	133475812	rs1799899	21665994	Kutalik Z	2011-06-10	Hum Mol Genet	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	Alcohol consumption (transferrin glycosylation)	5,181 European ancestry individuals	2,284 European ancestry individauls	3q22.1	TF	rs1799899-A	0.06	1E-9	(CDT concentration)	0.402	[0.27-0.53] unit decrease	Affymetrix [390631] (imputed)	N
1603	chr3	133477700	133477701	rs8177240	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin saturation)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	3q22.1	TF	rs8177240-T	0.669	7E-38		0.1	[0.084-0.116] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
1603	chr3	133477700	133477701	rs8177240	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	3q22.1	TF	rs8177240-T	0.669	8E-610		0.38	[0.37-0.39] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
1603	chr3	133477700	133477701	rs8177240	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (iron levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	3q22.1	TF	rs8177240-T	0.669	7E-20		0.066	[0.052-0.080] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
1603	chr3	133480191	133480192	rs8177253	25224454	Li J	2014-09-15	Hum Mol Genet	Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.	Iron status biomarkers	2,347 African American individuals	329 African American individuals	3q22.1	TF	rs8177253-T	0.24	2E-47	(TIBC)	19.86	[17.23-22.49] unit increase	Affymetrix [~ 17000000] (imputed)	N
1603	chr3	133484028	133484029	rs3811647	25457201	de Tayrac M	2014-10-18	J Hepatol	Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.	Hereditary hemochromatosis-related traits (HFE mutation homozygotes)	474 European ancestry cases	746 European ancestry cases	3q22.1	TF	rs3811647-?	NR	9E-11	(Serum Iron levels)	0.28	[0.20-0.36] unit decrease	Illumina [534213]	N
1603	chr3	133484028	133484029	rs3811647	25457201	de Tayrac M	2014-10-18	J Hepatol	Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.	Hereditary hemochromatosis-related traits (HFE mutation homozygotes)	474 European ancestry cases	746 European ancestry cases	3q22.1	TF	rs3811647-?	NR	2E-20	(Trasferrin)	0.4	[0.32-0.48] unit decrease	Illumina [534213]	N
1603	chr3	133484028	133484029	rs3811647	21785125	Traglia M	2011-07-25	J Med Genet	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	Hepcidin levels	1,657 Val Borbera individuals	NA	3q22.1	TF	rs3811647-?	NR	2E-16	(Tf)	0.338	[0.26-0.42] ng/ml increase	Illumina [343866]	N
1603	chr3	133484028	133484029	rs3811647	21665994	Kutalik Z	2011-06-10	Hum Mol Genet	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	Alcohol consumption (transferrin glycosylation)	5,181 European ancestry individuals	2,284 European ancestry individauls	3q22.1	TF	rs3811647-A	0.32	1E-35	(Total transferrin)	0.358	[0.30-0.42] unit increase	Affymetrix [390631] (imputed)	N
1603	chr3	133484028	133484029	rs3811647	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron status biomarkers	336 European ancestry iron deficiency cases, 343 European ancestry controls	71 European ancestry iron deficiency cases, 161 European ancestry controls	3q22.1	TF	rs3811647-A	NR	8E-6	(Unsaturated iron-binding capacity)	21.62	[NR] ug/dL increase	Illumina [331060]	N
1603	chr3	133484028	133484029	rs3811647	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron status biomarkers	336 European ancestry iron deficiency cases, 343 European ancestry controls	71 European ancestry iron deficiency cases, 161 European ancestry controls	3q22.1	TF	rs3811647-A	NR	5E-10	(Total iron-binding capacity)	21.49	[NR] ug/dL increase	Illumina [331060]	N
1603	chr3	133484028	133484029	rs3811647	21208937	Pichler I	2011-01-04	Hum Mol Genet	Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.	Iron status biomarkers	Up to 5,633 European ancestry individuals	Up to 3,457 European ancestry individuals	3q22.1	TF	rs3811647-A	0.29	3E-47	(transferrin)	15.34	[13.26-17.42] mg/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1603	chr3	133484028	133484029	rs3811647	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	3q22.1	TF	rs3811647-?	NR	3E-15	(serum transferrin)	0.46	[0.34-0.58] s.d. decrease	Illumina [315887]	N
1603	chr3	133494353	133494354	rs1049296	21665994	Kutalik Z	2011-06-10	Hum Mol Genet	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	Alcohol consumption (transferrin glycosylation)	5,181 European ancestry individuals	2,284 European ancestry individauls	3q22.1	TF	rs1049296-T	0.17	5E-43	(CDT percent)	0.29	[0.25-0.33] unit decrease	Affymetrix [390631] (imputed)	N
1603	chr3	133508463	133508464	rs1830084	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	411 European ancestry individuals from 150 families	NA	3q22.1	TF	rs1830084-A	0.36	1E-9	(serum transferrin)	0.43	[NR] s.d. increase	Affymetrix [100846]	N
1603	chr3	133537066	133537067	rs1534166	21665994	Kutalik Z	2011-06-10	Hum Mol Genet	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	Alcohol consumption (transferrin glycosylation)	5,181 European ancestry individuals	2,284 European ancestry individauls	3q22.1	SRPRB	rs1534166-A	0.30	2E-17	(CDT concentration)	0.289	[0.22-0.36] unit decrease	Affymetrix [390631] (imputed)	N
1604	chr3	133589323	133589324	rs9835973	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	3q22.1	RAB6B	rs9835973-A		7E-8	(EA)			Illumina [NR]	N
1607	chr3	134054696	134054697	rs186248261	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	3q22.2	NR	rs186248261-?		8E-7	(PCB206)	1.26	[0.75-1.77] unit decrease	Illumina [8736858] (imputed)	N
1609	chr3	134233091	134233092	rs10935120	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	3q22.2	ANAPC13, CEP63	rs10935120-A	0.33	7E-8		0.06	[0.03-0.09] s.d. decrease (males)	Affymetrix [402951]	N
1612	chr3	134649765	134649766	rs62270313	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	3q22.2	EPHB1	rs62270313-?	0.05	1E-7		4.6	[NR]	Affymetrix [4893794] (imputed)	N
1614	chr3	134930939	134930940	rs931726	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	3q22.2	NR	rs931726-T	0.25	6E-7	(EA)	0.056	[0.034-0.078] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1616	chr3	135225248	135225249	rs11712655	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q22.2	EPHB1	rs11712655-T	0.72	1E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1616	chr3	135235357	135235358	rs1502172	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q22.2	EPHB1	rs1502172-A	0.34	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1617	chr3	135281667	135281668	rs7612415	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe size	4,919 Latin American individuals	NA	3q22.2	NR	rs7612415-?	NR	9E-7	(FDR adjusted)			Illumina [671038]	N
1618	chr3	135486533	135486534	rs72975629	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q22.2	NR	rs72975629-C	NR	4E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1619	chr3	135587810	135587811	rs1401543	22216198	Athanasiadis G	2011-12-28	PLoS One	A genome-wide association study of the Protein C anticoagulant pathway.	Anticoagulant levels	397 European ancestry individuals from 21 families	NA	3q22.2	PPP2R3A	rs1401543-?	NR	8E-6	(Total PS)			Illumina [283437]	N
1620	chr3	135698128	135698129	rs7641070	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q22.2	NR	rs7641070-G	NR	6E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1621	chr3	135798657	135798658	rs34894639	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	3q22.3	MSL2L1	rs34894639-C	0.78	8E-9		0.042	[0.028-0.056] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1622	chr3	135925190	135925191	rs1154988	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	3q22.3	MSL2, PCCB	rs1154988-A	0.78	1E-16	(EA)	0.01	[0.008-0.012] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
1622	chr3	135926621	135926622	rs645040	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	3q22.3	MSL2L1	rs645040-G	0.23	2E-12		0.029	[NR] mg/dL decrease	NR [NR] (imputed)	N
1622	chr3	135926621	135926622	rs645040	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	3q22.3	MSL2L1	rs645040-G	0.22	3E-8		2.22	[1.34-3.1] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1622	chr3	135950920	135950921	rs511154	20031576	Dehghan A	2009-04-01	Circ Cardiovasc Genet	Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.	Fibrinogen	22,096 European ancestry individuals	17,686 European ancestry female individuals	3q22.3	PCCB	rs511154-A	0.22	6E-10		0.05	[0.03-0.06] g/L increase	Affymetrix, Illumina [~ 2661766] (imputed)	N
1622	chr3	135974215	135974216	rs9844666	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3q22.3	PCCB	rs9844666-A	0.25	4E-9		0.024	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1622	chr3	136047976	136047977	rs483465	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	3q22.3	MSL2L1	rs483465-A	0.21	4E-10		0.045	[0.031-0.059] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1623	chr3	136107548	136107549	rs9880211	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.3	STAG1	rs9880211-A	0.246	6E-7	(EA)	0.018	[0.011-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1623	chr3	136107548	136107549	rs9880211	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.3	STAG1	rs9880211-A	0.245	5E-7	(EA, women)	0.023	[0.014-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1623	chr3	136107548	136107549	rs9880211	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.3	STAG1	rs9880211-A	0.243	2E-7		0.018	[0.011-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1623	chr3	136107548	136107549	rs9880211	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3q22.3	STAG1	rs9880211-A	0.248	2E-18		0.03	[0.024-0.036] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1623	chr3	136154827	136154828	rs66691851	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q22.3	NR	rs66691851-C	NR	2E-11		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1624	chr3	136288404	136288405	rs7432375	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	3q22.3	MSL2, NCK1, PCCB, PPP2R3A, SLC35G2, STAG1	rs7432375-G	0.551	7E-11		1.0718113	[1.05-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
1625	chr3	136402059	136402060	rs9826828	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	3q22.3	IL20RB	rs9826828-A	0.02	9E-10	(EA)	1.44	[1.28-1.61]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1627	chr3	136618908	136618909	rs9867325	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.3	NCK1	rs9867325-C	0.242	1E-6	(EA, women)	0.022	[0.013-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1627	chr3	136618908	136618909	rs9867325	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.3	NCK1	rs9867325-C	0.242	1E-6	(EA)	0.017	[0.01-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1627	chr3	136618908	136618909	rs9867325	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.3	NCK1	rs9867325-C	0.24	1E-6		0.017	[0.01-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1628	chr3	136734013	136734014	rs1682361	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q22.3	NR	rs1682361-G	NR	8E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1628	chr3	136768009	136768010	rs17374749	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety in major depressive disorder	1,080 European ancestry cases, 442 European ancestry controls	NA	3q22.3	IL20RB	rs17374749-?	0.78	7E-6	(Dichotomous)	1.54	[NR]	Illumina [471581]	N
1630	chr3	136989990	136989991	rs13067731	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3q22.3	IL20RB	rs13067731-T	0.16	1E-9		0.04	[0.026-0.054] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1631	chr3	137108481	137108482	rs1382269	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	3q22.3	intergenic	rs1382269-?	0.47	5E-7	(SM)			Affymetrix [187454]	N
1633	chr3	137447484	137447485	rs10935268	19578179	Teichert M	2009-07-04	Hum Mol Genet	A genome-wide association study of acenocoumarol maintenance dosage.	Acenocoumarol maintenance dosage	1,451 European ancestry individuals	287 individuals	3q22.3	CNTN4	rs10935268-?	NR	8E-7				Illumina [~ 550000]	N
1635	chr3	137650735	137650736	rs16847609	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	3q22.3	SOX14, CLDN18	rs16847609-A	0.09	5E-7		1.19	[1.11-1.28]	NR [NR]	N
1638	chr3	138025395	138025396	rs9846480	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Whole-brain volume (Alzheimer's disease interaction)	434 European ancestry mild cognitive impairment cases, 245 European ancestry Alzheimer's disease cases, 284 European ancestry controls	NA	3q22.3	TXNDC6	rs9846480-?	NR	8E-6		0.009	[NR] unit increase	Illumina [478011]	N
1638	chr3	138025620	138025621	rs7638688	24931836	Diekstra FP	2014-06-27	Ann Neurol	C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.	Amyotrophic lateral sclerosis	4,377 European ancestry cases, 13,017 European ancestry controls	NA	3q22.3	TXNDC6	rs7638688-?	0.71	1E-6		1.1764705	[NR]	Illumina [~ 1400000] (imputed)	N
1638	chr3	138091700	138091701	rs1199333	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3q22.3	MRAS	rs1199333-?	NR	3E-6				Illumina [859311]	N
1638	chr3	138097533	138097534	rs1678443	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q22.3	NR	rs1678443-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
1638	chr3	138113352	138113353	rs253664	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.3	MRAS	rs253664-T	0.202	7E-6	(EA)	0.017	[0.0099-0.0247] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1638	chr3	138113352	138113353	rs253664	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q22.3	MRAS	rs253664-T	0.202	3E-7	(EA, women)	0.025	[0.015-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1638	chr3	138119951	138119952	rs2306374	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	3q22.3	MRAS	rs2306374-C	0.18	3E-8		1.12	[1.07-1.16]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1638	chr3	138122121	138122122	rs9818870	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	3q22.3	MRAS	rs9818870-T	NR	1E-7		1.11	[1.07-1.15]	Illumina [575000] (imputed)	N
1638	chr3	138122121	138122122	rs9818870	19198612	Erdmann J	2009-02-08	Nat Genet	New susceptibility locus for coronary artery disease on chromosome 3q22.3.	Coronary heart disease	1,222 European ancestry cases, 1,298 European ancestry controls	18,185 European ancestry cases, 20,068 European ancestry controls	3q22.3	MRAS	rs9818870-T	0.15	7E-13		1.15	[1.11-1.19]	Affymetrix [567119]	N
1641	chr3	138502057	138502058	rs149005978	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q22.3	NR	rs149005978-?	NR	2E-11	(Japanese)	1.0831	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1642	chr3	138602882	138602883	rs7637688	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q22.3	NR	rs7637688-?	NR	7E-8	(Latino)	0.6713	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1643	chr3	138713703	138713704	rs1511412	20711176	Nakashima M	2010-08-15	Nat Genet	A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.	Keloid	178 Japanese ancestry cases, 906 Japanese ancestry controls	621 Japanese ancestry cases, 2,271 Japanese ancestry controls	3q22.3	FOXL2, LOC389151	rs1511412-A	0.08	2E-13		1.87	[1.58-2.21]	Illumina [452038]	N
1644	chr3	138890562	138890563	rs140701484	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q23	NR	rs140701484-?	NR	1E-8	(Japanese)	0.9447	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1644	chr3	138903984	138903985	rs7638110	22013104	Melka MG	2011-10-19	J Clin Endocrinol Metab	Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.	Obesity-related traits	598 French Canadian founder adolescent individuals	NA	3q23	MRPS22	rs7638110-?		5E-8	(BMI)			Illumina [530011]	N
1644	chr3	138903984	138903985	rs7638110	22013104	Melka MG	2011-10-19	J Clin Endocrinol Metab	Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.	Obesity-related traits	598 French Canadian founder adolescent individuals	NA	3q23	MRPS22	rs7638110-?		2E-6	(TFM)			Illumina [530011]	N
1644	chr3	138916392	138916393	rs11706018	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q23	NR	rs11706018-C	0.934430632634864	7E-6	(IGP75)	0.2799	[0.16-0.4] unit increase	Illumina [~ 2500000] (imputed)	N
1644	chr3	138916392	138916393	rs11706018	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q23	NR	rs11706018-C	0.934284044682752	9E-6	(IGP74)	0.2773	[0.15-0.4] unit increase	Illumina [~ 2500000] (imputed)	N
1645	chr3	139004919	139004920	rs10212419	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe size	4,919 Latin American individuals	NA	3q23	MRPS22, FOXL2	rs10212419-A	0.52	3E-14		0.107	unit increase	Illumina [671038]	N
1645	chr3	139004919	139004920	rs10212419	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear morphology	4,919 Latin American individuals	NA	3q23	FOXL2, MRPS22	rs10212419-A	0.52	2E-11				Illumina [671038]	N
1645	chr3	139043235	139043236	rs4894410	22446961	Lee YC	2012-03-25	Nat Genet	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.	Kawasaki disease	622 Han Chinese ancestry cases, 1,107 Han Chinese ancestry controls	261 Han Chinese ancestry cases, 550 Han Chinese ancestry controls	3q23	COPB2	rs4894410-G	0.021	8E-6		2.094	[1.498-2.925]	Affymetrix [716935]	N
1646	chr3	139073010	139073011	rs1044826	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q23	MRPS22	rs1044826-G	0.412	9E-6	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
1646	chr3	139073010	139073011	rs1044826	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q23	MRPS22	rs1044826-G	0.412	8E-6	(HOMA-IR)	0.03	[NR] unit increase	Illumina [899892]	N
1647	chr3	139241370	139241371	rs295490	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q23	NR	rs295490-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
1650	chr3	139606793	139606794	rs2554152	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q23	CLSTN2	rs2554152-G	0.89	7E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1652	chr3	139866473	139866474	rs76347219	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3q23	NR	rs76347219-?	NR	7E-7	(EA)	0.9717	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1653	chr3	140099692	140099693	rs17411949	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	3q23	CLSTN2	rs17411949-?	NR	8E-7		1.85	[1.45-2.37]	Illumina [495970]	N
1654	chr3	140169656	140169657	rs6439924	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	3q23	CLSTN2	rs6439924-?	0.16	8E-7		1.23	[1.13-1.33]	Affymetrix, Illumina [1004829] (imputed)	N
1654	chr3	140175359	140175360	rs11708189	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	3q23	CLSTN2	rs11708189-?	0.65	2E-6	(Dominant)	1.12	[1.07-1.18]	Affymetrix [319222]	N
1654	chr3	140223793	140223794	rs9862730	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	3q23	CLSTN2	rs9862730-A	0.109	4E-6	(Carbohydrate)			Affymetrix [590000]	N
1654	chr3	140223793	140223794	rs9862730	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	3q23	CLSTN2	rs9862730-A	0.109	3E-6	(Carbohydrate)			Affymetrix [590000]	N
1655	chr3	140247176	140247177	rs4683505	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		3q23	CLSTN2	rs4683505-?	0.033	4E-7			[NR]	Affymetrix, Illumina [152234]	N
1655	chr3	140370011	140370012	rs72977016	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	3q23	TRIM42	rs72977016-?	NR	7E-9				NR [up to 8466825] (imputed)	N
1656	chr3	140417445	140417446	rs79436609	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	3q23	NR	rs79436609-?	NR	3E-8				NR [up to 8466825] (imputed)	N
1656	chr3	140422387	140422388	rs12638075	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	3q23	TRIM42, CLSTN2	rs12638075-C	0.014	5E-6	(EA, 25 years or older)	1.376	[1.200-1.577]	Affymetrix, Illumina [NR] (imputed)	N
1657	chr3	140540717	140540718	rs908821	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	3q23	SLC25A36	rs908821-?	0.71	3E-6		1.37	[NR]	Illumina [551642]	N
1658	chr3	140676799	140676800	rs141220432	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	3q23	NR	rs141220432-?	NR	4E-6				NR [up to 8466825] (imputed)	N
1658	chr3	140681912	140681913	rs150888153	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	3q23	NR	rs150888153-?	NR	4E-6				NR [up to 8466825] (imputed)	N
1659	chr3	140799212	140799213	rs16851055	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Ischemic stroke	12,389 cases, 62,004 controls	NA	3q23	SPSB4	rs16851055-A	NR	7E-7		1.1111	[1.06-1.16]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1659	chr3	140799212	140799213	rs16851055	23041239	Traylor M	2012-10-05	Lancet Neurol	Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.	Stroke (ischemic)	12,389 European ancestry cases, 62,004 European ancestry controls	1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls	3q23	SPSB4	rs16851055-G	0.81	6E-7	(IS)	1.12	[1.07-1.17]	Affymetrix, Illumina [NR] (imputed)	N
1660	chr3	140979410	140979411	rs16851254	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	3q23	ACPL2	rs16851254-?	0.0313	8E-6	(IED)			Illumina [475971]	N
1661	chr3	141078187	141078188	rs9857275	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	3q23	ZBTB38, RASA2	rs9857275-?	NR	2E-6		1.28	[NR]	Illumina [NR] (imputed)	N
1661	chr3	141094208	141094209	rs6440003	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	3q23	ZBTB38	rs6440003-A	0.81	2E-10		0.065	[0.045-0.085] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
1661	chr3	141094208	141094209	rs6440003	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	3q23	ZBTB38	rs6440003-A	0.44	2E-24		0.07	[0.04-0.09] s.d. increase (males)	Affymetrix [402951]	N
1661	chr3	141102832	141102833	rs6763931	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	3q23	ZBTB38	rs6763931-A	0.33	6E-34		0.055	[0.043-0.067] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1661	chr3	141102832	141102833	rs6763931	25221879	Wu K	2014-09-15	Am J Respir Crit Care Med	Genome-wide Interrogation of Longitudinal FEV1 in Children with Asthma.	Pulmonary function in asthmatics	510 European ancestry	NA	3q23	ZBTB38	rs6763931-A	0.43	4E-6	(Baseline FEV1)	0.024	[NR] unit increase	Illumina [473680]	N
1661	chr3	141102832	141102833	rs6763931	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	3q23	ZBTB38	rs6763931-T	0.45	2E-8		1.04	[1.01-1.07]	NR [2600000] (imputed)	N
1661	chr3	141102832	141102833	rs6763931	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	3q23	ZBTB38	rs6763931-?	0.35	3E-12		0.07	[0.05-0.09] s.d. increase	Illumina [229216]	N
1661	chr3	141102832	141102833	rs6763931	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	3q23	ZBTB38	rs6763931-A	0.45	1E-27		7.4	[6.03-8.77] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1661	chr3	141105569	141105570	rs724016	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	3q23	intergenic	rs724016-G	0.4413	3E-6	(EA)	1.0572861	[1.03-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1661	chr3	141105569	141105570	rs724016	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3q23	ZBTB38	rs724016-A	0.555	3E-158		0.078	[0.072-0.084] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1661	chr3	141105569	141105570	rs724016	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	3q23	ZBTB38	rs724016-A	0.453	4E-7		0.044	[0.026-0.062] unit decrease	Affymetrix, Illumina [2193675] (imputed)	N
1661	chr3	141105569	141105570	rs724016	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3q23	ZBTB38	rs724016-A	0.56	3E-86		0.07	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1661	chr3	141105569	141105570	rs724016	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	3q23	ZBTB38	rs724016-G	0.48	8E-22		0.37	[0.29-0.45] cm increase	Affymetrix, Illumina [2260683] (imputed)	N
1661	chr3	141105569	141105570	rs724016	18193045	Sanna S	2008-01-13	Nat Genet	Common variants in the GDF5-UQCC region are associated with variation in human height.	Height	1,084 European ancestry cases, 1,287 European ancestry controls, 4,298 European individuals	23,684 European ancestry individuals, 3,860 African American individuals	3q23	ZBTB38	rs724016-G	0.36	1E-6		0.61	[NR] cm increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1661	chr3	141133449	141133450	rs1991431	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	3q23	ZBTB38	rs1991431-A	0.44	4E-47		1.33	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1661	chr3	141137034	141137035	rs9825379	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	3q23	ZBTB38	rs9825379-A	0.24	6E-9		0.07	[0.05-0.09] cm increase	Illumina [420885]	N
1661	chr3	141143429	141143430	rs10513137	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	3q23	ACPL2, ZBTB38	rs10513137-A	0.26	8E-8		0.49	[NR] cm increase	Affymetrix [334546]	N
1661	chr3	141143429	141143430	rs10513137	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Height	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	3q23	ZBTB38	rs10513137-A	0.26	6E-12		0.46	[0.33-0.59] cm increase	Affymetrix [2156535] (imputed)	N
1662	chr3	141266492	141266493	rs6776003	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	3q23	RASA2	rs6776003-A	0.44	4E-11	(EA, MCV)	0.138	[0.087-0.189] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1662	chr3	141275435	141275436	rs16851483	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q23	RASA2	rs16851483-T	0.066	4E-10	(EA)	0.048	[0.033-0.063] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1662	chr3	141275435	141275436	rs16851483	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q23	RASA2	rs16851483-T	0.066	2E-10		0.048	[0.033-0.063] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1662	chr3	141275435	141275436	rs16851483	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q23	RASA2	rs16851483-T	0.065	5E-8	(EA, women)	0.052	[0.034-0.071] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1663	chr3	141376139	141376140	rs11921014	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	3q23	LOC646730	rs11921014-A	0.02	8E-6	(AA)	1.07	[0.6-1.54] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1664	chr3	141463297	141463298	rs16851720	22841784	Patin E	2012-07-26	Gastroenterology	Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.	Hepatitis C induced liver fibrosis	1,161 European ancestry HCV-infected individuals	1,181 European ancestry HCV-infected individuals	3q23	RNF7	rs16851720-C	0.19	9E-9	(QTF)			Illumina [780650] (imputed)	N
1666	chr3	141807136	141807137	rs347685	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	3q23	TFDP2	rs347685-C	0.28	3E-11	(eGFRcrea)	1.09	[0.007-0.011] ml/min/1.73 m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1670	chr3	142328918	142328919	rs9826463	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q23	NR	rs9826463-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1671	chr3	142430999	142431000	rs3773506	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	3q23	PLS1	rs3773506-C	0.06	9E-6	(Indian)	1.81	[1.39-2.35]	Illumina [~ 2000000] (imputed)	N
1672	chr3	142535265	142535266	rs116465281	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q23	NR	rs116465281-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1673	chr3	142633868	142633869	rs2581624	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	3q23	PCOLCE2	rs2581624-C	0.19	1E-10	(AA)	0.125	[NR] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1673	chr3	142649109	142649110	rs9832727	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	3q23	PAQR9	rs9832727-?	NR	6E-29	(proportions)	0.0	[0.80-3.10] % increase	Illumina [NR] (imputed)	N
1675	chr3	142894410	142894411	rs894177	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	3q24	intergenic	rs894177-G	0.34	3E-6	(ALT)	0.28	[NR] unit decrease	Illumina [324623]	N
1675	chr3	142982898	142982899	rs9810857	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	3q24	SLC9A9	rs9810857-T	0.49	6E-6		1.41	[NR]	Illumina [835136]	N
1676	chr3	143005028	143005029	rs17636071	23374588	Martinelli-Boneschi F	2013-01-29	Neurobiol Aging	Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.	Response to cholinesterase inhibitors in Alzheimer's disease	92 European ancestry cases, 77 European ancestry controls	94 European ancestry cases, 74 European ancestry controls	3q24	SLC9A9	rs17636071-G	0.09	2E-6	(MMSE)	4.74	[NR] unit decrease	Illumina [522109]	N
1676	chr3	143056466	143056467	rs7632299	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	3q24	intergenic	rs7632299-A	0.17	4E-6		0.45	[NR] unit increase	Illumina [324623]	N
1677	chr3	143250069	143250070	rs1371924	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	3q24	SLC9A9	rs1371924-?	NR	4E-6	(RWLTA)			Affymetrix [70897]	N
1679	chr3	143424821	143424822	rs2800	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	3q24	SLC9A9	rs2800-G	0.34	3E-6	(ALT)	0.61	[NR] unit increase	Illumina [324623]	N
1679	chr3	143443102	143443103	rs7645841	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q24	NR	rs7645841-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1679	chr3	143504532	143504533	rs2166775	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	3q24	SLC9A9	rs2166775-G	NR	3E-6	(EA)	0.99	[0.54-1.44] unit increase	Affymetrix [~ 2300000] (imputed)	N
1681	chr3	143772246	143772247	rs13068298	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	3q24	intergenic	rs13068298-T	NR	8E-6		0.102	[0.057-0.147] unit decrease	Illumina [628922]	N
1681	chr3	143778707	143778708	rs16854884	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	3q24	intergenic	rs16854884-C	NR	7E-6		0.103	[0.058-0.148] unit increase	Illumina [628922]	N
1682	chr3	143902026	143902027	rs4839680	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		3q24	intergenic	rs4839680-?	0.033	1E-15			[NR]	Affymetrix, Illumina [152234]	N
1686	chr3	144340204	144340205	rs800082	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	3q24	intergenic	rs800082-?	0.42	3E-6	(PKYRS)	0.12	[NR] pack years increase	Illumina [~ 518000]	N
1686	chr3	144430821	144430822	rs183670238	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q24	NR	rs183670238-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
1687	chr3	144455135	144455136	rs1512777	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	3q24	NR	rs1512777-T	NR	4E-6	(phenotype 2)	1.92	[NR]	Illumina [> 8000000] (imputed)	N
1692	chr3	145173787	145173788	rs345013	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Prostate cancer	59 cases, 558 controls	NA	3q24	intergenic	rs345013-?	NR	5E-6				Affymetrix [70897]	N
1698	chr3	145888456	145888457	rs1913185	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q24	PLOD2	rs1913185-C	0.249	2E-7	(NEFA )	0.04	[NR] mmol/L increase	Illumina [899892]	N
1701	chr3	146402170	146402171	rs1912785	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	3q24	NR	rs1912785-?	NR	8E-6	(Circumference)	0.15	[0.091-0.209] unit decrease	Illumina [521744]	N
1702	chr3	146409182	146409183	rs114774257	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q24	NR	rs114774257-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1703	chr3	146632163	146632164	rs12629805	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q24	PLSCR5	rs12629805-C	0.10	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1705	chr3	146816710	146816711	rs4681346	24039173	McGrath LM	2013-09-13	Am J Med Genet B Neuropsychiatr Genet	Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia.	Functional impairment in major depressive disorder, bipolar disorder and schizophrenia	2,246 European ancestry individuals	NA	3q24	intergenic	rs4681346-?	NR	3E-6	(MCS)			Affymetrix [1633452] (imputed)	N
1710	chr3	147526039	147526040	rs72995528	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q24	NR	rs72995528-?	NR	6E-7		0.5172	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1712	chr3	147756685	147756686	rs1841770	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	3q24	ZIC1	rs1841770-?	0.53	8E-6		1.34	[NR]	Illumina [551642]	N
1717	chr3	148481022	148481023	rs79019069	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	3q24	AGTR1, CPB1	rs79019069-A	0.974	2E-6		0.276	[0.11-0.45] unit increase	Illumina [6391392] (imputed)	N
1718	chr3	148615286	148615287	rs3819340	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	3q24	CPA3	rs3819340-G	0.04	9E-7		0.07	[0.031-0.109] unit increase	Illumina [1632371] (imputed)	N
1719	chr3	148756824	148756825	rs6764352	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	3q24	NR	rs6764352-?		2E-7	(PCB194)	0.81	[0.52-1.1] unit increase	Illumina [8736858] (imputed)	N
1721	chr3	148913125	148913126	rs13072552	22075249	Tang WH	2011-11-10	Arterioscler Thromb Vasc Biol	Clinical and genetic association of serum ceruloplasmin with cardiovascular risk.	Serum ceruloplasmin levels	2,647 European ancestry individuals	2,050 European ancestry individuals	3q24	intergenic	rs13072552-T	0.079	2E-11		1.5	mg/dl increase	Affymetrix [2421770] (imputed)	N
1721	chr3	148977313	148977314	rs7617219	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q25.1	CP	rs7617219-A	0.60	1E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1723	chr3	149250588	149250589	rs17787940	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	3q25.1	WWTR1	rs17787940-?	NR	3E-6	(EA)	3.17	[1.95-5.16]	Illumina [2485249] (imputed)	N
1729	chr3	150042617	150042618	rs4301033	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	3q25.1	TSC22D2	rs4301033-G	NR	6E-7		0.036	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1730	chr3	150087007	150087008	rs1012583	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q25.1	NR	rs1012583-G	0.702573039608367	4E-6	(IGP8)	0.1552	[0.089-0.221] unit increase	Illumina [~ 2500000] (imputed)	N
1732	chr3	150467807	150467808	rs6788895	22951594	Elgazzar S	2012-09-06	J Hum Genet	A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.	Breast cancer	1,086 Japanese ancestry cases, 1,816 Japanese ancestry controls	1,653 Japanese ancestry cases, 2,797 Japanese ancestry controls	3q25.1	SIAH2	rs6788895-G	0.65	9E-8		1.22	[1.13-1.31]	Illumina [453627]	N
1734	chr3	150697207	150697208	rs16863118	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q25.1	NR	rs16863118-C	0.836539205162439	8E-6	(IGP8)	0.1835	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1734	chr3	150697207	150697208	rs16863118	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q25.1	NR	rs16863118-C	0.836539205162439	7E-7	(IGP48)	0.2044	[0.12-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
1736	chr3	150935370	150935371	rs1554120	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	3q25.1	MED12L	rs1554120-A	0.85	5E-6	(Right HG thickness)	0.0296	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
1737	chr3	151042463	151042464	rs12107539	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	3q25.1	NR	rs12107539-?		4E-6	(AA)			Illumina [up to 524000]	N
1738	chr3	151143843	151143844	rs73869064	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q25.1	NR	rs73869064-?	NR	5E-7		0.3537	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1738	chr3	151143843	151143844	rs73869064	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q25.1	NR	rs73869064-?	NR	3E-6	(AA)	0.3879	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1738	chr3	151183070	151183071	rs1491976	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	3q25.1	NR	rs1491976-G	NR	5E-6	(phenotype 1)	2.3255813	[NR]	Illumina [> 8000000] (imputed)	N
1738	chr3	151183070	151183071	rs1491976	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	3q25.1	NR	rs1491976-G	NR	5E-6	(phenotype 3)	2.33	[NR]	Illumina [> 8000000] (imputed)	N
1741	chr3	151579872	151579873	rs6798928	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	3q25.1	AADAC, SUCNR1	rs6798928-?	0.58	3E-6		1.35	[1.19-1.54]	Illumina [2057134] (imputed)	N
1742	chr3	151763700	151763701	rs1351267	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	3q25.1	intergenic	rs1351267-?	NR	7E-6	(Mood symptoms)	0.0882	[NR] unit increase	Affymetrix [696491]	N
1743	chr3	151830308	151830309	rs11712066	23989729	Feenstra B	2013-08-21	JAMA	Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.	Infantile hypertrophic pyloric stenosis	1,001 European ancestry cases, 2,371 European ancestry controls	925 European ancestry cases, 1,621 European ancestry controls, 738 cases, 697 controls	3q25.1	intergenic	rs11712066-A	0.7484	3E-21		1.55	[1.42-1.70]	Illumina [9737928] (imputed)	N
1743	chr3	151830308	151830309	rs11712066	22306654	Feenstra B	2012-02-05	Nat Genet	Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.	Infantile hypertrophic pyloric stenosis	1,001 European ancestry cases, 2,401 European ancestry controls	796 European ancestry cases, 876 European ancestry controls	3q25.1	MBNL1	rs11712066-A	0.75	2E-17		1.61	[1.44-1.79]	Illumina [523420]	N
1748	chr3	152535364	152535365	rs10513432	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	3q25.2	P2RY1	rs10513432-G		4E-7	(EA)			Illumina [NR]	N
1749	chr3	152672778	152672779	rs6785504	21659360	Wade R	2011-06-09	Haematologica	Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.	Response to antineoplastic agents	356 European ancestry cases	380 European ancestry cases	3q25.2	intergenic	rs6785504-T	NR	7E-6		2.11	[1.51-2.94]	Illumina [326385]	N
1750	chr3	152721974	152721975	rs9883654	21659360	Wade R	2011-06-09	Haematologica	Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.	Response to antineoplastic agents	356 European ancestry cases	380 European ancestry cases	3q25.2	intergenic	rs9883654-T	NR	2E-6		2.2	[1.57-3.08]	Illumina [326385]	N
1753	chr3	153184655	153184656	rs6778194	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	3q25.2	LOC152118	rs6778194-C		2E-9	(AA)			Illumina [NR]	N
1754	chr3	153350115	153350116	rs7623788	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q25.2	NR	rs7623788-G	0.134195012466607	5E-6	(IGP27)	0.2057	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
1755	chr3	153472162	153472163	rs573872	23989729	Feenstra B	2013-08-21	JAMA	Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.	Infantile hypertrophic pyloric stenosis	1,001 European ancestry cases, 2,371 European ancestry controls	925 European ancestry cases, 1,621 European ancestry controls, 738 cases, 697 controls	3q25.2	intergenic	rs573872-G	0.2282	5E-14		1.37	[1.26-1.48]	Illumina [9737928] (imputed)	N
1755	chr3	153472162	153472163	rs573872	22306654	Feenstra B	2012-02-05	Nat Genet	Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.	Infantile hypertrophic pyloric stenosis	1,001 European ancestry cases, 2,401 European ancestry controls	796 European ancestry cases, 876 European ancestry controls	3q25.2	intergenic	rs573872-G	0.23	4E-12		1.41	[1.28-1.56]	Illumina [523420]	N
1755	chr3	153478422	153478423	rs6794649	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q25.2	NR	rs6794649-C	0.159420807120324	1E-6	(IGP4)	0.2074	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
1755	chr3	153478422	153478423	rs6794649	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q25.2	NR	rs6794649-C	0.159404027112517	2E-6	(IGP44)	0.2013	[0.12-0.28] unit decrease	Illumina [~ 2500000] (imputed)	N
1759	chr3	153962973	153962974	rs56038139	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q25.2	NR	rs56038139-G	NR	2E-7		1.1111112	[NR]	Illumina [7158791] (imputed)	N
1767	chr3	155045429	155045430	rs6440972	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	3q25.31	FLJ46120	rs6440972-?		8E-7		0.353	[NR] unit increase	Illumina [430487]	N
1768	chr3	155070464	155070465	rs6440974	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Psychotic symptoms in prion disease	Up to 170 cases	NA	3q25.31	LOC100507537	rs6440974-?	0.099	4E-6		5.27	[2.52-11.03]	Illumina [518938]	N
1769	chr3	155267439	155267440	rs3851357	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q25.31	NR	rs3851357-G	0.805635591718611	9E-6	(IGP31)	0.1814	[0.1-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1775	chr3	156102733	156102734	rs3772255	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	3q25.31	KCNAB1	rs3772255-?	NR	8E-6	(biologic age)			Affymetrix [70897]	N
1775	chr3	156105083	156105084	rs7615568	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	3q25.31	KCNAB1	rs7615568-G	0.09	1E-8	(Random effect)	0.11	[0.051-0.169] unit increase	Illumina [4736131] (imputed)	N
1777	chr3	156336554	156336555	rs7651778	23761726	Yazar S	2013-06-06	Mol Vis	Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.	Corneal astigmatism	2,784 European ancestry individuals		3q25.31	NR	rs7651778-C	NR	5E-6		0.126	[0.071-0.181] unit increase	Illumina [~ 2500000] (imputed)	N
1778	chr3	156397748	156397749	rs2665390	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Ovarian cancer in BRCA1 mutation carriers	683 European ancestry cases, 2,044 European ancestry controls	1,706 European ancestry cases, 10,258 European ancestry controls	3q25.31	intergenic	rs2665390-C	0.043	7E-6		1.46	[1.25-1.71]	Illumina [2568349] (imputed)	N
1778	chr3	156397748	156397749	rs2665390	20852632	Goode EL	2010-09-19	Nat Genet	A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.	Ovarian cancer	1,768 European ancestry cases, 2,354 European ancestry controls	8,709 European ancestry cases, 51,764 European ancestry controls	3q25.31	TIPARP	rs2665390-C	NR	3E-7		1.19	[1.11-1.27]	Illumina [2056878] (imputed)	N
1778	chr3	156406996	156406997	rs7651446	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	3q25.31	TIPARP	rs7651446-A	0.05	6E-51		1.59	[1.48-1.70]	Illumina [up to 10962898] (imputed)	N
1778	chr3	156406996	156406997	rs7651446	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	3q25.31	NR	rs7651446-?	0.05	2E-34	(Serious invasive)	1.59	[1.48-1.71]	Illumina [2508744] (imputed)	N
1778	chr3	156406996	156406997	rs7651446	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	3q25.31	NR	rs7651446-?	0.05	2E-29	(All invasive)	1.44	[1.35-1.54]	Illumina [2508744] (imputed)	N
1779	chr3	156555983	156555984	rs344081	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	3q25.31	LEKR1	rs344081-T	0.87	4E-12	(LSBMD)	0.06	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1779	chr3	156609101	156609102	rs17382119	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	3q25.31	LEKR1	rs17382119-?	NR	3E-6	(AUC)			NR [2092490]	N
1779	chr3	156626090	156626091	rs12638253	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	3q25.31	FLJ16641	rs12638253-?	0.47	2E-6			[NR]	Illumina [551642]	N
1780	chr3	156728609	156728610	rs7616559	25898001	Dong C	2015-04-16	Atherosclerosis	Genetic variants in LEKR1 and GALNT10 modulate sex-difference in carotid intima-media thickness: A genome-wide interaction study.	Carotid artery intima media thickness (sex interaction)	931 Hispanics individuals	153 European ancestry individuals, 257 Black individuals	3q25.31	LEKR1	rs7616559-G	0.29	1E-6	(Model 1)	0.035	[0.021-0.049] unit increase	Affymetrix [731037]	N
1780	chr3	156728609	156728610	rs7616559	25898001	Dong C	2015-04-16	Atherosclerosis	Genetic variants in LEKR1 and GALNT10 modulate sex-difference in carotid intima-media thickness: A genome-wide interaction study.	Carotid artery intima media thickness (sex interaction)	931 Hispanics individuals	153 European ancestry individuals, 257 Black individuals	3q25.31	LEKR1	rs7616559-G	0.26	4E-6	(Model 1, Hispanics)	0.04	[0.022-0.058] unit increase	Affymetrix [731037]	N
1781	chr3	156797608	156797609	rs17451107	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q25.31	LEKR1	rs17451107-T	0.6211	2E-8	(men)	0.0281	[0.018-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1781	chr3	156797608	156797609	rs17451107	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q25.31	LEKR1	rs17451107-T	0.6185	1E-8	(EA, men)	0.0295	[0.019-0.04] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1781	chr3	156797608	156797609	rs17451107	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q25.31	LEKR1	rs17451107-T	0.6172	4E-11		0.0232	[0.016-0.03] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1781	chr3	156797608	156797609	rs17451107	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q25.31	LEKR1	rs17451107-T	0.6145	1E-12	(EA)	0.0256	[0.019-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1781	chr3	156797608	156797609	rs17451107	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q25.31	LEKR1	rs17451107-T	0.613	6E-6	(women)	0.0209	[0.012-0.03] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1781	chr3	156797608	156797609	rs17451107	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	3q25.31	LEKR1	rs17451107-T	0.611	1E-6	(EA, women)	0.0232	[0.014-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1781	chr3	156797608	156797609	rs17451107	23575227	Urbanek M	2013-04-10	Hum Mol Genet	The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.	Anthropometric traits in newborns	1,095 Afro-Caribbean individuals, 1,363 European ancestry individuals, 616 Mexican American individuals, 1,207 Thai ancestry individuals	2,296 European ancestry individuals	3q25.31	LEKR1, CCNL1	rs17451107-T	0.55	6E-7	(Sum of skinfolds, Model 3, Thai)	0.0633	[NR] unit increase	Illumina [up to 3563305] (imputed)	N
1781	chr3	156797647	156797648	rs10049088	23575227	Urbanek M	2013-04-10	Hum Mol Genet	The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.	Anthropometric traits in newborns	1,095 Afro-Caribbean individuals, 1,363 European ancestry individuals, 616 Mexican American individuals, 1,207 Thai ancestry individuals	2,296 European ancestry individuals	3q25.31	LEKR1, CCNL1	rs10049088-T	0.45	9E-6	(Fat mass, Model 3, Thai)	0.522	[NR] unit decrease	Illumina [up to 3563305] (imputed)	N
1781	chr3	156798472	156798473	rs1482853	23575227	Urbanek M	2013-04-10	Hum Mol Genet	The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.	Anthropometric traits in newborns	1,095 Afro-Caribbean individuals, 1,363 European ancestry individuals, 616 Mexican American individuals, 1,207 Thai ancestry individuals	2,296 European ancestry individuals	3q25.31	LEKR1, CCNL1	rs1482853-C	0.620	4E-9	(Birthweight, Model 2)	43.2	[20.86-65.54] unit increase	Illumina [up to 3563305] (imputed)	N
1781	chr3	156798472	156798473	rs1482853	23575227	Urbanek M	2013-04-10	Hum Mol Genet	The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.	Anthropometric traits in newborns	1,095 Afro-Caribbean individuals, 1,363 European ancestry individuals, 616 Mexican American individuals, 1,207 Thai ancestry individuals	2,296 European ancestry individuals	3q25.31	LEKR1, CCNL1	rs1482853-C	0.620	2E-13	(Fat Mass, Model 2)	0.438	[0.26-0.62] unit increase	Illumina [up to 3563305] (imputed)	N
1781	chr3	156798472	156798473	rs1482853	23575227	Urbanek M	2013-04-10	Hum Mol Genet	The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.	Anthropometric traits in newborns	1,095 Afro-Caribbean individuals, 1,363 European ancestry individuals, 616 Mexican American individuals, 1,207 Thai ancestry individuals	2,296 European ancestry individuals	3q25.31	CCNL1, LEKR1	rs1482853-C	0.620	3E-19	(Sum of Skinfolds, Model 2)	0.055	[0.035-0.075] unit increase	Illumina [up to 3563305] (imputed)	N
1781	chr3	156798774	156798775	rs900400	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3q25.31	LEKR1, CCNL1	rs900400-T	0.61	2E-11		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1781	chr3	156798774	156798775	rs900400	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	3q25.31	CCNL1	rs900400-C	0.39	4E-38		0.072	[0.060-0.084] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
1781	chr3	156798774	156798775	rs900400	20372150	Freathy RM	2010-04-06	Nat Genet	Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.	Birth weight	10,623 European ancestry individuals	27,591 European ancestry individuals, 1,415 Filipino ancestry individuals, 746 North African ancestry individuals, 333 Turkish ancestry individuals	3q25.31	LEKR1, CCNL1	rs900400-C		2E-35		0.09	[0.073-0.10] s.d. decrease	Affymetrix, Illumina [~ 2400000] (imputed)	N
1781	chr3	156836905	156836906	rs7624327	22911880	Boraska V	2012-08-22	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.	Eating disorders	Up to 2,567 European ancestry individuals	Up to 767 European ancestry cases, up to 486  European ancestry controls	3q25.31	LEKR1, CCNL1	rs7624327-A	0.098	3E-6	(Bulimia)	1.13	[1.06-1.16]	Illumina [283744]	N
1781	chr3	156854741	156854742	rs13064954	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Smoking cessation in chronic obstructive pulmonary disease	1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases	NA	3q25.31	CCNL1	rs13064954-A	0.05	5E-6		1.94		Illumina [~ 6300000] (imputed)	N
1781	chr3	156854741	156854742	rs13064954	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	3q25.31	LEKR1, CCNL1	rs13064954-G	0.04	7E-7		1.02	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
1782	chr3	156950578	156950579	rs9866141	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Smoking cessation in chronic obstructive pulmonary disease	1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases	NA	3q25.31	VEPH1	rs9866141-T	0.06	8E-6		1.88		Illumina [~ 6300000] (imputed)	N
1782	chr3	156950578	156950579	rs9866141	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	3q25.31	KRT18P34, VEPH1	rs9866141-T	0.04	9E-7		1.02	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
1785	chr3	157318256	157318257	rs4395360	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q25.32	C3orf55	rs4395360-C	0.387	4E-6		0.016	[0.0093-0.0235] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1785	chr3	157318256	157318257	rs4395360	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q25.32	C3orf55	rs4395360-C	0.383	4E-6	(EA)	0.017	[0.0099-0.0247] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1788	chr3	157686456	157686457	rs9818941	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	3q25.32	SHOX2	rs9818941-A	0.45	4E-7		0.028	[0.016-0.04] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1791	chr3	158109378	158109379	rs2362965	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	3q25.32	RSRC1, SHOX2	rs2362965-T	0.5	2E-9		1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1793	chr3	158447783	158447784	rs190141647	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	3q25.32	intergenic	rs190141647-G	0.003	2E-6		11.39	[3.26-39.81]	Illumina [1556551]	N
1793	chr3	158453278	158453279	rs7646881	23297363	Cordell HJ	2013-01-07	Hum Mol Genet	Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.	Tetralogy of Fallot	835 European ancestry cases, 5,159 European ancestry controls	798 European ancestry cases, 2,931 European ancestry controls	3q25.32	intergenic	rs7646881-A	0.168	2E-6		1.391	[1.224-1.581]	Illumina [516131]	N
1794	chr3	158514359	158514360	rs6802315	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	3q25.32	MFSD1	rs6802315-?	0.45	3E-7	(Age 20-60 years)	1.37	[1.2-1.54]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1795	chr3	158610893	158610894	rs13064773	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	3q25.32	NR	rs13064773-A	NR	8E-7	(phenotype 1)	2.26	[NR]	Illumina [> 8000000] (imputed)	N
1795	chr3	158610893	158610894	rs13064773	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	3q25.32	NR	rs13064773-A	NR	8E-7	(phenotype 3)	2.26	[NR]	Illumina [> 8000000] (imputed)	N
1800	chr3	159259290	159259291	rs2222328	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	3q25.33	SCHIP1	rs2222328-C	0.32	8E-7	(WC)	0.22	[NR] inch decrease	Affymetrix [408775]	N
1800	chr3	159268462	159268463	rs7616179	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	3q25.33	NR	rs7616179-?		9E-7	(PCB156)	1.04	[0.63-1.45] unit increase	Illumina [8736858] (imputed)	N
1801	chr3	159441179	159441180	rs17807116	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q25.33	NR	rs17807116-?	NR	2E-8	(Japanese)	1.0307	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1802	chr3	159644296	159644297	rs6799788	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	3q25.33	IL12A, SCHIP1	rs6799788-G	0.2476976	1E-6	(partial response - SSRI treated - 2 weeks)	1.6268	[1.43-1.82]	Affymetrix, Illumina [1200000] (imputed)	N
1803	chr3	159665049	159665050	rs17810546	25799145	Kappen JH	2015-03-23	PLoS One	Genome-Wide Association Study in an Admixed Case Series Reveals IL12A as a New Candidate in Behcet Disease.	Behcet's disease	1 Afghanistan ancestry case, 154 Middle Eastern/North African ancestry cases, 2 Cape Verdian cases, 1 Curacao case, 1 Dominican Republic ancestry cases, 54 European ancestry cases, 1 Israeli case, 1 Surinamese ancestry case, 1 Thai ancestry case, 1 Chinese ancestry case, 119 Turkish ancestry cases, 87 Middle Eastern/North African ancestry controls, 5,756 controls	2,030 Turkish cases, 1,904 Turkish controls	3q25.33	IL12A	rs17810546-G		1E-10		1.66	[1.42-1.93]	Illumina [505454]	N
1803	chr3	159665049	159665050	rs17810546	23291587	Kirino Y	2013-01-06	Nat Genet	Genome-wide association analysis identifies new susceptibility loci for Beh&#x000e7;et's disease and epistasis between HLA-B*51 and ERAP1.	Behcet's disease	435 Turkish uveitis cases, 780 Turkish without uveitis cases, 1,278 Turkish controls	355 Turkish uveitis cases, 483 Turkish without uveitis cases, 601 Turkish controls, up to 612 Japanese ancestry cases, up to 740 Japanese ancestry controls	3q25.33	IL12A	rs17810546-A	0.05	6E-7	(All Turkish cases)	1.55	[1.30-1.85]	Illumina [779465] (imputed)	N
1803	chr3	159665049	159665050	rs17810546	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	3q25.33	IL12A	rs17810546-G	0.13	4E-28		1.36	[1.29-1.44]	Illumina [292387]	N
1803	chr3	159665049	159665050	rs17810546	18311140	Hunt KA	2008-03-02	Nat Genet	Newly identified genetic risk variants for celiac disease related to the immune response.	Celiac disease	767 European ancestry cases, 1,422 European ancestry controls	1,643 European ancestry cases, 3,406 European ancestry controls	3q25.33	IL12A, SCHIP1	rs17810546-G	NR	1E-9		1.35	[1.23-1.49]	Illumina [310605]	N
1803	chr3	159698944	159698945	rs4680534	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	3q25.33	IL12A	rs4680534-C	0.37	6E-6		1.12	[1.02-1.22]	Affymetrix, Illumina [~ 2560000] (imputed)	N
1803	chr3	159709650	159709651	rs2243123	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3q25.33	IL12A	rs2243123-G	NR	7E-6		1.08	[1.06-1.1]	Illumina [465434]	N
1803	chr3	159728877	159728878	rs6441286	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	3q25.33	IL12A	rs6441286-G	0.394	8E-12		1.44	[NR]	Illumina [276459]	N
1803	chr3	159728877	159728878	rs6441286	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	3q25.33	IL12A	rs6441286-G	0.39	2E-14		1.54	[1.38-1.72]	Illumina [305724]	N
1803	chr3	159745862	159745863	rs485499	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	3q25.33	IL12A	rs485499-T	0.57	2E-16		1.38	[1.28-1.50]	Illumina [507467]	N
1807	chr3	160226306	160226307	rs17236529	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	3q25.33	KPNA4	rs17236529-T	0.0346	3E-6		1.5126	[NR] unit increase	Illumina [1216189] (imputed)	N
1807	chr3	160226306	160226307	rs17236529	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	3q25.33	KPNA4	rs17236529-T	0.0344	2E-9		1.7754	[NR] unit increase	Illumina [1216074] (imputed)	N
1808	chr3	160340895	160340896	rs4679904	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	3q25.33	ARF7	rs4679904-G	0.72	1E-6		1.38	[1.21-1.57]	Illumina [305724]	N
1808	chr3	160429868	160429869	rs7624766	24583629	Senapati S	2014-02-27	Pharmacogenet Genomics	Genome-wide analysis of methotrexate pharmacogenomics in rheumatoid arthritis shows multiple novel risk variants and leads for TYMS regulation.	Response to methotrexate in rheumatoid arthritis	281 Indian ancestry good responder cases, 157 Indian ancestry poor responder cases	NA	3q25.33	PPM1L, ARL14	rs7624766-G	0.30	4E-7		2.28	[1.66-3.15]	Illumina [432662]	N
1811	chr3	160776963	160776964	rs9290065	22446961	Lee YC	2012-03-25	Nat Genet	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.	Kawasaki disease	622 Han Chinese ancestry cases, 1,107 Han Chinese ancestry controls	261 Han Chinese ancestry cases, 550 Han Chinese ancestry controls	3q26.1	PPM1L	rs9290065-G	0.020	9E-6		2.119	[1.508-2.979]	Affymetrix [716935]	N
1811	chr3	160820523	160820524	rs4557202	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	3q26.1	B3GALNT1	rs4557202-C	0.43	2E-6	(AA)	4.21	[2.49-5.93] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1816	chr3	161392575	161392576	rs6808138	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	3q26.1	intergenic	rs6808138-?	NR	8E-6	(binary)			Perlegen [429981]	N
1816	chr3	161392575	161392576	rs6808138	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	3q26.1	intergenic	rs6808138-?	NR	5E-6	(binary)			Perlegen [429981]	N
1816	chr3	161455961	161455962	rs80021942	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q26.1	NR	rs80021942-C	NR	10E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1819	chr3	161821523	161821524	rs1581057	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	3q26.1	intergenic	rs1581057-C	0.69	6E-6	(Age 8)	0.13	[0.071-0.189] unit increase	Illumina [2293137] (imputed)	N
1820	chr3	161914911	161914912	rs989197	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q26.1	NR	rs989197-T	NR	7E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1821	chr3	162069008	162069009	rs12493123	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	3q26.1	intergenic	rs12493123-?	NR	2E-6				Illumina [~ 2400000] (imputed)	N
1821	chr3	162131407	162131408	rs12636148	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q26.1	LOC131149	rs12636148-C	0.11	5E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1822	chr3	162161615	162161616	rs11924705	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	3q26.1	intergenic	rs11924705-?,rs6789378-?	(CA)	4E-14	(Coronary artery disease)			Affymetrix [407576]	N
1822	chr3	162167395	162167396	rs6789378	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	3q26.1	intergenic	rs11924705-?,rs6789378-?	(CA)	4E-14	(Coronary artery disease)			Affymetrix [407576]	N
1826	chr3	162681994	162681995	rs1425609	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to death)	25,007 European ancestry individuals	10,411 European ancestry individuals	3q26.1	OTOL1	rs1425609-A	0.38	1E-6		0.08	[0.04-0.12] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1827	chr3	162834300	162834301	rs9824150	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	3q26.1	intergenic	rs9824150-?	NR	7E-6				NR [~ 2000000]	N
1834	chr3	163737249	163737250	rs16833934	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	3q26.1	MIR1263	rs16833934-G	0.26	7E-7	(EA, MAP, Age 20-29)	1.33	[0.8-1.86] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1834	chr3	163737249	163737250	rs16833934	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	3q26.1	MIR1263	rs16833934-G	0.26	1E-8	(EA, DBP, Age 20-29)	1.63	[1.06-2.2] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1834	chr3	163761963	163761964	rs7427021	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	3q26.1	NR	rs7427021-G	0.56	5E-6		1.16	[1.09-1.24]	Affymetrix, Illumina [2366197] (imputed)	N
1835	chr3	163855068	163855069	rs78661745	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	3q26.1	intergenic	rs78661745-C	0.908	7E-6		0.068	[0.039-0.097] unit decrease	Illumina [6150213] (imputed)	N
1840	chr3	164589938	164589939	rs2168784	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	3q26.1	intergenic	rs2168784-T	0.11	5E-9		1.46	[1.34-1.58]	Illumina [4058415] (imputed)	N
1844	chr3	165125158	165125159	rs9878522	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	3q26.1	intergenic	rs9878522-?	NR	6E-6	(SF3)			Affymetrix [5476100] (imputed)	N
1845	chr3	165280208	165280209	rs1523288	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	3q26.1	BCHE	rs1523288-?	0.65	6E-6	(EA)	1.15	[0.98-1.35]	Affymetrix, Illumina [2478304] (imputed)	N
1847	chr3	165480099	165480100	rs6445035	23508960	Zhou G	2013-03-18	J Biol Chem	Aspirin hydrolysis in plasma is a variable function of butyrylcholinesterase and platelet-activating factor acetylhydrolase 1b2 (PAFAH1b2).	Aspirin hydrolysis (plasma)	2,054 European ancestry individuals		3q26.1	BCHE	rs6445035-A	NR	9E-17				Affymetrix [2421779] (imputed)	N
1847	chr3	165491279	165491280	rs1803274	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	3q26.1	BCHE	rs1803274-T	0.21	6E-92	(BCHE)	0.365	[0.33-0.40] units/l decrease	Illumina [NR] (imputed)	N
1847	chr3	165491279	165491280	rs1803274	21862451	Benyamin B	2011-08-23	Hum Mol Genet	GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.	Butyrylcholinesterase levels	6,879 European ancestry adult individuals	1,260 European ancestry adult individuals, 652 European ancestry adolescent individuals	3q26.1	BCHE	rs1803274-T	0.21	6E-262		0.71	[0.67-0.75] SD decrease	Illumina [2383238] (imputed)	N
1848	chr3	165637528	165637529	rs4365667	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking quantity	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	3q26.1	NR	rs4365667-?		5E-6				Illumina [1211988] (imputed)	N
1851	chr3	166014468	166014469	rs509208	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	3q26.1	BCHE	rs509208-G	0.16	3E-8	(Cortical Ab)			Illumina [6108668] (imputed)	N
1861	chr3	167348837	167348838	rs7627289	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q26.1	WDR49	rs7627289-A	0.22	2E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1862	chr3	167508061	167508062	rs13090836	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	Heart rate	455 African American individuals	NA	3q26.1	SERPINI1	rs13090836-T		7E-6		3.58	[NR] ms increase	Illumina [> 930000]	N
1864	chr3	167661135	167661136	rs12639288	25310821	Kim JH	2014-10-13	PLoS One	A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.	Hirschsprung disease	123 Korean ancestry cases, 432 Korean ancestry controls	NA	3q26.2	LOC100509398	rs12639288-?	NR	5E-6	(Conditioned on rs2435357, rs1800860, rs7078220 and rs16879552)			Illumina [757260]	N
1864	chr3	167670594	167670595	rs145242450	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q26.2	NR	rs145242450-?	NR	10E-8	(Latino)	1.6001	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1864	chr3	167725348	167725349	rs7632500	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	3q26.2	NR	rs7632500-C	0.038	1E-6		1.37	[1.21-1.55]	Illumina [922031]	N
1865	chr3	167837747	167837748	rs4345115	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	3q26.2	GOLIM4, SERPINI1	rs4345115-T	0.63	7E-6		4.4	[2.44-6.36] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1865	chr3	167861407	167861408	rs111577701	25087078	Anney RJ	2014-07-30	Lancet Neurol	Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.	Epilepsy	405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls	NA	3q26.2	GOLIM4	rs111577701-C	0.91	4E-7	(All epilepsy)	1.16	[1.09-1.24]	Affymetrix, Illumina [NR] (imputed)	N
1865	chr3	167897820	167897821	rs2686586	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	3q26.2	GOLIM4	rs2686586-T	0.47	6E-8	(AA-triglyceride response)	18.93	[11.89-25.97] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1868	chr3	168252303	168252304	rs6782264	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q26.2	NR	rs6782264-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1871	chr3	168648038	168648039	rs2201862	25849990	Tapper W	2015-04-07	Nat Commun	Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.	Myeloproliferative neoplasms	524 European ancestry JAK2 negative cases, 2,674 European ancestry controls	1,383 European ancestry JAK2 negative cases, 4,609 European ancestry controls, 526 JAK2 negative cases, 5,506 controls	3q26.2	EGFEM1P, MECOM	rs2201862-C	0.52	2E-9		1.22	[1.14-1.30]	Affymetrix [2098039] (imputed)	N
1871	chr3	168686675	168686676	rs16852912	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to event)	16,995 European ancestry individuals	NA	3q26.2	MECOM	rs16852912-T	0.08	3E-6		1.18	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1873	chr3	168916239	168916240	rs9864370	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		3q26.2	NR	rs9864370-G	0.05	9E-6	(HD vs. non-HD)	2.04	[1.49-2.80]	Illumina [414804]	N
1874	chr3	168971230	168971231	rs784288	23349225	Hwang JY	2013-01-24	J Med Genet	Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture.	Osteoporosis	288 Korean ancestry cases, 1,139 Korean ancestry controls	831 East Asian ancestry cases, 2305 East Asian ancestry controls	3q26.2	MECOM	rs784288-A	0.23	4E-8		1.39	[1.24-1.56]	Affymetrix [1573409] (imputed)	N
1874	chr3	169029978	169029979	rs12634933	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	3q26.2	MECOM	rs12634933-?	NR	7E-8	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1874	chr3	169080184	169080185	rs9883650	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	3q26.2	MDS1	rs9883650-C		4E-7	(EA)			Illumina [NR]	N
1874	chr3	169082632	169082633	rs6774494	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	3q26.2	MDS1, EVI1	rs6774494-?	0.35	1E-8		1.19	[1.12-1.27]	Illumina [464328]	N
1875	chr3	169100885	169100886	rs419076	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	3q26.2	MECOM	rs419076-T	0.47	2E-13		0.409	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1875	chr3	169100885	169100886	rs419076	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	3q26.2	MECOM	rs419076-T	0.47	2E-12		0.241	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1875	chr3	169100885	169100886	rs419076	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	3q26.2	MECOM	rs419076-T	0.44	8E-13	(Mean Arterial Pressure)	0.34	[0.25-0.43] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1875	chr3	169100898	169100899	rs448378	20700443	Meyer TE	2010-08-05	PLoS Genet	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	Magnesium levels	15,366 European ancestry individuals	8,463 European ancestry individuals	3q26.2	MDS1	rs448378-G	0.47	1E-8		0.0	[0.002-0.006] mmol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1875	chr3	169100898	169100899	rs448378	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Systolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	3q26.2	MDS1	rs448378-A	0.52	1E-7		0.51	[0.31-0.71] mm Hg decrease	Affymetrix, Illumina [2533153] (imputed)	N
1875	chr3	169150631	169150632	rs16853722	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	3q26.2	MECOM	rs16853722-C	0.29	3E-14		0.0064	[0.0048-0.0080] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
1875	chr3	169165887	169165888	rs1918974	19430483	Newton-Cheh C	2009-05-10	Nat Genet	Genome-wide association study identifies eight loci associated with blood pressure.	Diastolic blood pressure	34,433 European ancestry individuals	Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals	3q26.2	MDS1	rs1918974-T	0.54	8E-8		0.27	[0.17-0.37] mm Hg decrease	Affymetrix, Illumina [2497993] (imputed)	N
1875	chr3	169197332	169197333	rs2421649	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	3q26.2	NR	rs2421649-G	0.496	1E-6	(EA)	0.048	[0.028-0.068] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1875	chr3	169199009	169199010	rs2421650	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	3q26.2	NR	rs2421650-A	0.503	1E-6	(EA)	0.047	[0.027-0.067] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1876	chr3	169300218	169300219	rs1344555	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	3q26.2	MECOM	rs1344555-?	NR	4E-6	(FEV1, Pack-years)			NR [~ 2500000] (imputed)	N
1876	chr3	169300218	169300219	rs1344555	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	3q26.2	MECOM	rs1344555-T	0.21	3E-8	(FEV1)	0.034	[0.022-0.046] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1877	chr3	169347831	169347832	rs7625357	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	3q26.2	MECOM	rs7625357-T	0.33	4E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
1877	chr3	169464941	169464942	rs13097028	24980573	Song F	2014-06-30	Carcinogenesis	Identification of a melanoma susceptibility locus and somatic mutation in TET2.	Melanoma	494 European ancestry cases, 5,628 European ancestry controls	5,383 European ancestry cases, 13,033 European ancestry controls	3q26.2	ACTRT3	rs13097028-?		7E-7		1.1236	[1.08-1.18]	Affymetrix, Illumina [1579307] (imputed)	N
1878	chr3	169477505	169477506	rs12638862	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		3q26.2	NR	rs12638862-A	0.74	2E-6	(Any IgH translocation vs. controls)	1.37	[1.20-1.56]	Illumina [414804] (imputed)	N
1878	chr3	169481270	169481271	rs12696304	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	3q26.2	TERC	rs12696304-G	0.27	3E-7		0.092	[NR] unit decrease	Affymetrix, Illumina [at least 1569314] (imputed)	N
1878	chr3	169481270	169481271	rs12696304	21573004	Prescott J	2011-05-10	PLoS One	Genome-wide association study of relative telomere length.	Telomere length	3,554 European ancestry individuals	2,460 European ancestry individuals	3q26.2	TERC	rs12696304-G	0.27	2E-14		0.03	[0.02-0.04] unit decrease	Illumina [2608509] (imputed)	N
1878	chr3	169481270	169481271	rs12696304	20139977	Codd V	2010-02-07	Nat Genet	Common variants near TERC are associated with mean telomere length.	Telomere length	2,917 European ancestry individuals	9,492 European ancestry individuals	3q26.2	TERC	rs12696304-G	0.30	4E-14		0.11	[0.08-0.14] unit decrease	Affymetrix [405649]	N
1878	chr3	169492100	169492101	rs10936599	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	3q26.2	MYNN	rs10936599-C		2E-9		1.26	[1.17-1.35]	Illumina [450000] (imputed)	N
1878	chr3	169492100	169492101	rs10936599	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	6,911 European ancestry cases, 11,818 European ancestry controls	801 cases, 1,307 controls	3q26.2	ACTRT3, MYNN, TERC, LRRC34	rs10936599-C	0.76	5E-9		1.1765	[1.11-1.23]	Illumina [462190]	N
1878	chr3	169492100	169492101	rs10936599	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	3q26.2	MYNN, TERC	rs10936599-G	0.8	9E-14		1.256	[1.18-1.33]	Illumina [414804]	N
1878	chr3	169492100	169492101	rs10936599	23535734	Codd V	2013-04-01	Nat Genet	Identification of seven loci affecting mean telomere length and their association with disease.	Telomere length	37,684 European ancestry individuals	10,739 European ancestry individuals	3q26.2	TERC	rs10936599-T	0.252	3E-31		0.097	[0.081-0.113] unit decrease	Affymetrix, Illumina [2362330]	N
1878	chr3	169492100	169492101	rs10936599	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	3q26.2	MYNN	rs10936599-G	NR	7E-7		1.1	[1.08-1.11]	Illumina [465434]	N
1878	chr3	169492100	169492101	rs10936599	20972440	Houlston RS	2010-10-24	Nat Genet	Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.	Colorectal cancer	3,334 European ancestry cases, 4,628 European ancestry controls	14,851 European ancestry cases, 15,569 European ancestry controls	3q26.2	MYNN	rs10936599-C	NR	3E-8		1.04	[1.04-1.10]	Illumina [up to 550000] (imputed)	N
1878	chr3	169492100	169492101	rs10936599	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	3q26.2	intergenic	rs10936599-A	0.25	5E-7		1.12	[1.07-1.16]	Illumina [292387]	N
1878	chr3	169497584	169497585	rs1317082	23001564	Mangino M	2012-09-25	Hum Mol Genet	Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.	Telomere length	9,190 European ancestry individuals	2,226 individuals	3q26.2	TERC	rs1317082-G	0.2875	1E-8		0.0679	[0.046-0.089] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1878	chr3	169518454	169518455	rs6793295	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	3q26.2	MYNN, LRRC34	rs6793295-T	0.74	7E-6		0.16	[NR] unit increase	Illumina [12100000] (imputed)	N
1878	chr3	169518454	169518455	rs6793295	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	3q26.2	LRRC34	rs6793295-C	0.26	8E-13		1.3	[1.19-1.42]	Illumina [439828]	N
1878	chr3	169528448	169528449	rs10936601	23900074	Pooley KA	2013-07-29	Hum Mol Genet	A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.	Telomere length	2,240 European ancestry individuals	11,024 breast cancer cases, 15,065 controls	3q26.2	TERC	rs10936601-?	0.27	4E-15		4.0E-4	[0.00029-0.00051] unit increase	Illumina, Perlegen [2448093] (imputed)	N
1878	chr3	169579970	169579971	rs1920116	24908248	Walsh KM	2014-06-08	Nat Genet	Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.	Glioma (high-grade)	1,013 European ancestry cases, 6,595 European ancestry controls	631 European ancestry cases, 1,141 European ancestry controls	3q26.2	TERC	rs1920116-G	0.72	8E-9		1.3	[1.19-1.42]	Affymetrix, Illumina [2362330] (imputed)	N
1881	chr3	169999215	169999216	rs71277158	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	3q26.2	PRKCI	rs71277158-T	0.82	8E-14		1.22	[1.15-1.28]	Illumina [1531807] (imputed)	N
1882	chr3	170003562	170003563	rs191153365	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q26.2	NR	rs191153365-?	NR	3E-6	(Native Hawaiian)	1.2581	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1882	chr3	170130101	170130102	rs10936632	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	3q26.2	CLDN11, SKIL	rs10936632-A	0.52	7E-22		1.11	[1.08-1.14]	NR [2600000] (imputed)	N
1883	chr3	170163473	170163474	rs6444931	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	3q26.2	TMEM212	rs6444931-?	NR	6E-7		1.3421	[NR]	Affymetrix [722112]	N
1885	chr3	170494408	170494409	rs4955755	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	3q26.2	NR	rs4955755-?	NR	7E-7		0.34	[0.21-0.47] years increase	Illumina [315418]	N
1887	chr3	170717520	170717521	rs11920090	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	3q26.2	SLC2A2	rs11920090-?	NR	8E-11				Affymetrix, Illumina [~ 2400000] (imputed)	N
1887	chr3	170717520	170717521	rs11920090	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	3q26.2	SLC2A2	rs11920090-T	0.87	8E-13	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1887	chr3	170717520	170717521	rs11920090	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	3q26.2	SLC2A2	rs11920090-T	0.87	5E-6	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1887	chr3	170725541	170725542	rs10513686	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	3q26.2	SLC2A2	rs10513686-A	0.14	6E-11		4.9	[4.00-5.70] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1888	chr3	170834558	170834559	rs11920719	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	3q26.2	TNIK	rs11920719-A	0.77	4E-6		0.0973	[0.056-0.139] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1889	chr3	170971290	170971291	rs2088885	19023125	Potkin SG	2008-11-20	Schizophr Bull	A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.	Brain imaging in schizophrenia (interaction)	46 European ancestry cases, 60 European ancestry controls, 18 cases, 14 controls	NA	3q26.31	TNIK	rs2088885-?	0.47	6E-6				Illumina [302783]	N
1890	chr3	171121232	171121233	rs150394119	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q26.31	NR	rs150394119-?	NR	9E-7		0.3226	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1893	chr3	171558343	171558344	rs6794092	21701570	Ng MC	2011-06-23	Obesity (Silver Spring)	Genome-wide association of BMI in African Americans.	Body mass index	1,715 African American individuals	3,274 African American individuals	3q26.31	PP13439, TMEM212	rs6794092-G	0.90	2E-6		0.167	[0.10-0.24] s.d. increase	Affymetrix [746626]	N
1894	chr3	171653902	171653903	rs3913363	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	3q26.31	TMEM212	rs3913363-T	NR	4E-7	(AA)	1.3	[0.75-1.85] unit increase	Affymetrix [~ 2300000] (imputed)	N
1894	chr3	171685581	171685582	rs9814607	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	3q26.31	intergenic	rs9814607-?	NR	9E-6		0.0413	[0.023-0.060] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
1895	chr3	171785167	171785168	rs9647379	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	3q26.31	FNDC3B	rs9647379-C	0.4	1E-9		0.206	[0.11-0.30] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1896	chr3	171921568	171921569	rs9854411	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	3q26.31	FNDC3B	rs9854411-?	NR	7E-6		0.57	unit decrease	NR [at least 1978803] (imputed)	N
1896	chr3	171926372	171926373	rs4535251	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	3q26.31	FNDC3B	rs4535251-T	0.5	4E-16		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1897	chr3	171969076	171969077	rs7652177	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3q26.31	FNDC3B	rs7652177-C	0.49	3E-39		0.038	[0.032-0.044] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1897	chr3	171969076	171969077	rs7652177	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3q26.31	GHSR	rs7652177-?	NR	7E-11	(Conditioned on rs572169)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1897	chr3	171970858	171970859	rs4243400	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	3q26.31	FNDC3B	rs4243400-A	0.52	2E-23		0.048	[0.036-0.06] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1897	chr3	171992386	171992387	rs6445055	25173106	Hysi PG	2014-08-31	Nat Genet	Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.	Intraocular pressure	7,738 Asian ancestry individuals, 27,558 European ancestry individuals	NA	3q26.31	FNDC3B	rs6445055-A	NR	4E-8		0.177	[0.12-0.24] mm Hg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1897	chr3	171995604	171995605	rs4894535	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	3q26.31	FNDC3B	rs4894535-T	0.17	5E-12		0.1	[0.061-0.139] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1898	chr3	172163448	172163449	rs509035	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3q26.31	GHSR	rs509035-A	0.316	3E-23		0.031	[0.025-0.037] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1898	chr3	172165726	172165727	rs572169	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	3q26.31	GHSR	rs572169-T	0.46	1E-7		0.036	[0.024-0.048] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1898	chr3	172165726	172165727	rs572169	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	3q26.31	GHSR	rs572169-T	0.31	1E-12		1.17	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1898	chr3	172165726	172165727	rs572169	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3q26.31	GHSR	rs572169-T	0.31	3E-18		0.033	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1900	chr3	172385692	172385693	rs11712263	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q26.31	NCEH1	rs11712263-A	0.135	8E-6	(HDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1900	chr3	172476418	172476419	rs7646507	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q26.31	ECT2	rs7646507-G	0.084	8E-6	(TG/HDLC )	0.03	[NR] mmol/L increase	Illumina [899892]	N
1903	chr3	172798799	172798800	rs1878007	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	3q26.31	NR	rs1878007-A	0.1702	9E-6		0.12	[0.069-0.18] unit decrease	Affymetrix, Illumina [2403520] (imputed)	N
1903	chr3	172843276	172843277	rs11720607	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	3q26.31	SPATA16	rs11720607-?	NR	5E-6	(rs10486567)	1.3699	[1.20-1.59]	Affymetrix, Illumina [1117531] (imputed)	N
1906	chr3	173180632	173180633	rs11709498	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	3q26.31	NLGN1	rs11709498-C	0.65	6E-6	(Age 20-81 years)	0.1549	[0.089-0.221] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1907	chr3	173384588	173384589	rs11713169	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	3q26.31	NLGN1	rs11713169-C	0.16	6E-13		0.052	[0.038-0.067] unit decrease	Illumina [7428049] (imputed)	N
1908	chr3	173504146	173504147	rs34626435	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q26.31	NR	rs34626435-A	NR	9E-8		1.1	[NR]	Illumina [7158791] (imputed)	N
1912	chr3	174029044	174029045	rs13074924	20516156	Lewis CM	2010-06-01	Am J Psychiatry	Genome-wide association study of major recurrent depression in the U.K. population.	Major depressive disorder	1,636 European ancestry cases, 1,594 European ancestry controls	1,418 European ancestry cases, 1,918 European ancestry controls	3q26.31	NLGN1	rs13074924-?	0.36	9E-6		1.18	[NR]	Illumina [471747]	N
1913	chr3	174194242	174194243	rs10936797	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q26.31	intergenic	rs10936797-C	0.296	2E-6	(Total T4 )	0.03	[NR] ug/dL increase	Illumina [899892]	N
1919	chr3	174893774	174893775	rs17531088	19132087	Burgner D	2009-01-09	PLoS Genet	A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.	Kawasaki disease	107 European ancestry cases, 134 European ancestry controls	583 European ancestry cases, 1,357 European ancestry controls from 583 families	3q26.31	NAALADL2	rs17531088-T	0.44	1E-6		1.43	[1.32-1.53]	Affymetrix [223922]	N
1919	chr3	174961386	174961387	rs1463525	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	3q26.31	NAALADL2	rs1463525-?	0.43	8E-6	(case-only)	1.37	[1.19-1.59]	Illumina [421318] (imputed)	N
1920	chr3	175055758	175055759	rs2042126	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep duration	2,278 European ancestry individuals	NA	3q26.31	NAALADL2	rs2042126-G	0.48	3E-6		0.14	[0.081-0.199] unit decrease	Illumina [2380486] (imputed)	N
1920	chr3	175103613	175103614	rs62287976	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	3q26.31	MIR4789, NAALADL2	rs62287976-T		1E-6		0.3082	unit increase	Illumina [5767231] (imputed)	N
1921	chr3	175223895	175223896	rs74619861	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	3q26.31	NR	rs74619861-?	NR	3E-6				NR [up to 8466825] (imputed)	N
1922	chr3	175252735	175252736	rs78943174	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer aggressiveness	4,545 European ancestry cases	7,973 European ancestry cases	3q26.31	NAALADL2	rs78943174-C	0.987	4E-8		0.289	[0.19-0.39] unit increase	Illumina [1531807] (imputed)	N
1925	chr3	175647164	175647165	rs6772209	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	3q26.31	TBL1XR1	rs6772209-G	0.97	3E-7		1.49	[1.28-1.75]	Affymetrix [666141]	N
1927	chr3	175927450	175927451	rs11923600	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	3q26.32	NAALADL2	rs11923600-G	0.71	8E-6		0.084	[0.047-0.121] unit increase	Affymetrix [1532051] (imputed)	N
1928	chr3	176030095	176030096	rs6799767	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	3q26.32	NR	rs6799767-?	0.58	4E-7		1.49	[1.18-1.85]	Illumina [~ 550000]	N
1930	chr3	176422651	176422652	rs1490075	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	3q26.32	intergenic	rs1490075-?	NR	2E-6	(SF9)			Affymetrix [5476100] (imputed)	N
1933	chr3	176727278	176727279	rs1384974	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	3q26.32	TBL1XR1	rs1384974-?	NR	4E-8	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
1936	chr3	177095071	177095072	rs12629106	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	3q26.32	intergenic	rs12629106-?	0.81	4E-6	(case-only)	1.56	[1.30-1.89]	Illumina [421318] (imputed)	N
1936	chr3	177176515	177176516	rs6799682	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	3q26.32	intergenic	rs6799682-A		8E-6	(AA, case-control analysis)	1.79	[NR]	Affymetrix [up to 730090]	N
1937	chr3	177228978	177228979	rs1353899	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		3q26.32	intergenic	rs1353899-?	0.22	4E-6		0.09	[0.051-0.129] unit decrease	Illumina [4058415] (imputed)	N
1937	chr3	177291696	177291697	rs644695	20038947	Shyn SI	2009-12-29	Mol Psychiatry	Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.	Major depressive disorder (broad)	3,957 European ancestry cases, 3,428 European ancestry controls	NA	3q26.32	NR	rs644695-A	0.88	5E-6		1.35	[NR]	Affymetrix, Perlegen [2391203] (imputed)	N
1937	chr3	177304297	177304298	rs7620503	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	3q26.32	TBL1XR1, KCNMB2	rs7620503-T	0.39	1E-8		0.06	[0.04-0.08] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1939	chr3	177596988	177596989	rs7612209	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	3q26.32	AC007953.21	rs7612209-?	0.4012	4E-6	(IED)			Illumina [475971]	N
1941	chr3	177766463	177766464	rs7634528	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		3q26.32	intergenic	rs7634528-?	0.044	1E-6			[NR]	Affymetrix, Illumina [152234]	N
1941	chr3	177855631	177855632	rs9883878	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	3q26.32	intergenic	rs9883878-?	NR	1E-6				Affymetrix [786195]	N
1944	chr3	178160567	178160568	rs12492269	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	3q26.32	LINC01014	rs12492269-?		2E-6				Illumina [5970354] (imputed)	N
1944	chr3	178257561	178257562	rs9637454	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	3q26.32	KCNMB2	rs9637454-A	0.2791	7E-8		0.5006	[0.32-0.68] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1945	chr3	178341581	178341582	rs2054399	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	3q26.32	KCNMB2	rs2054399-?	NR	1E-6		1.22	[NR]	Affymetrix [745006]	N
1946	chr3	178399550	178399551	rs13100616	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3q26.32	KCNMB2	rs13100616-?		9E-7				Illumina [859311]	N
1946	chr3	178429938	178429939	rs9290663	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	3q26.32	KCNMB2	rs9290663-T	0.13	6E-6		1.58	[1.20-1.90]	Affymetrix [307944]	N
1948	chr3	178782020	178782021	rs4955793	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	3q26.32	ZMAT3	rs4955793-?	NR	2E-6	(Whole cohort; AA)			Illumina [up to 871502]	N
1950	chr3	178983059	178983060	rs115965187	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	3q26.32	NR	rs115965187-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
1951	chr3	179172978	179172979	rs7612445	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	3q26.33	GNB4	rs7612445-G	0.816	2E-14		0.358	[0.24-0.48] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1955	chr3	179661317	179661318	rs7630877	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	3q26.33	PEX5L	rs7630877-A	0.17	7E-6	(Chinese)	1.32	[1.17-1.49]	Illumina [~ 2000000] (imputed)	N
1955	chr3	179664101	179664102	rs9842133	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	3q26.33	PEX5L	rs9842133-T	0.66	4E-12	(carnitine)	0.006	[0.004-0.008] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1959	chr3	180116562	180116563	rs6803803	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	3q26.33	PEX5L, TTC14	rs6803803-?		2E-6	(AIRg)	17.53	[10.24-24.82] unit increase	Illumina [693128]	N
1962	chr3	180550701	180550702	rs6782299	19571811	Purcell SM	2009-07-01	Nature	Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.	Schizophrenia	3,322 European ancestry cases, 3,587 European ancestry controls	4,692 European ancestry cases, 15,493 European ancestry controls	3q26.33	FXR1	rs6782299-T	0.73	1E-7		1.1		Affymetrix [739995]	N
1962	chr3	180551213	180551214	rs1879248	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	3q26.33	NR	rs1879248-?	NR	7E-6		1.07	[1.04-1.11]	Affymetrix, Illumina [1252901] (imputed)	N
1962	chr3	180599317	180599318	rs13096210	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q26.33	NR	rs13096210-C	NR	4E-11		1.1363636	[NR]	Illumina [7158791] (imputed)	N
1964	chr3	180773879	180773880	rs1805203	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q26.33	NR	rs1805203-G	NR	7E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1966	chr3	181035369	181035370	rs1878874	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q26.33	NR	rs1878874-T	NR	1E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1967	chr3	181167584	181167585	rs9841616	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q26.33	NR	rs9841616-T	NR	3E-8		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1967	chr3	181167584	181167585	rs9841616	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	3q26.33	CCDC39, DNAJC19, FXR1	rs9841616-T	0.833	2E-8		1.081081	[1.05-1.11]	Affymetrix, Illumina [9005918] (imputed)	N
1968	chr3	181311566	181311567	rs9839776	24514567	Boraska V	2014-02-11	Mol Psychiatry	A genome-wide association study of anorexia nervosa.	Anorexia nervosa	2,907 European ancestry cases, 14,860 European ancestry controls	2,677 European ancestry cases, 8,629 European ancestry controls, 458 Japanese ancestry cases, 421 Japanese ancestry controls	3q26.33	SOX2OT	rs9839776-T	0.27	3E-7		1.158	[1.095-1.225]	Illumina [1185559] (imputed)	N
1972	chr3	181851283	181851284	rs16832889	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	3q26.33	NR	rs16832889-?	0.011	1E-6		3.085	[1.965-4.844] unit increase	Illumina [563945]	N
1974	chr3	182121572	182121573	rs10513788	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	3q26.33	intergenic	rs10513788-T	0.182	5E-6	(Semantic Fluency)	2.688	[1.56-3.82] unit decrease	Affymetrix [> 371951] (imputed)	N
1979	chr3	182755208	182755209	rs2270968	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	3q27.1	MCCC1	rs2270968-T	0.26	1E-16	(hydroxyisovaleroyl carnitine)	0.031	[0.023-0.039] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1979	chr3	182760072	182760073	rs10513789	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	3q27.1	MCCC1, LAMP3	rs10513789-T	0.80	3E-10		1.25	[1.16-1.33]	Illumina [522782]	N
1979	chr3	182762436	182762437	rs12637471	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	3q27.1	MCCC1	rs12637471-G	0.807	2E-21		1.1876	[1.15-1.22]	Illumina [7893274] (imputed)	N
1979	chr3	182821274	182821275	rs11711441	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	3q27.1	MCCC1, LAMP3	rs11711441-G	0.86	8E-12		1.19	[1.13-1.25]	Illumina [7689524] (imputed)	N
1980	chr3	182869817	182869818	rs683395	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	3q27.1	NR	rs683395-G	0.08	5E-6		1.47	[1.26-1.71]	Affymetrix [469557]	N
1980	chr3	182870435	182870436	rs514636	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	3q27.1	NR	rs514636-?	NR	7E-7	(dominant)			Affymetrix [NR]	N
1986	chr3	183678341	183678342	rs1401999	24603532	Nongpiur ME	2014-03-06	PLoS Genet	ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.	Anterior chamber depth	1,752 Malay ancestry individuals, 1,860 Indian ancestry individuals, 872 Chinese ancestry individuals	824 Chinese ancestry individuals	3q27.1	HTR3D, HTR3C, ABCC5, PARL	rs1401999-C	0.41	8E-9		0.045	[0.030-0.060] unit decrease	Illumina [NR]	N
1986	chr3	183747265	183747266	rs7620457	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q27.1	HTR3D	rs7620457-G	0.215	9E-6	(EA)	0.018	[0.0099-0.0251] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1986	chr3	183747265	183747266	rs7620457	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q27.1	HTR3D	rs7620457-G	0.213	1E-6		0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1987	chr3	183843134	183843135	rs6806377	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q27.1	HSP90AA5P	rs6806377-A	0.487	1E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1987	chr3	183876511	183876512	rs1969253	22472876	Sullivan	2012-04-03	Mol Psychiatry	A mega-analysis of genome-wide association studies for major depressive disorder.	Major depressive disorder	9,240 European ancestry cases, 9,519 European ancestry controls	6,783 European ancestry cases, 50,695 European ancestry controls	3q27.1	HTR3D, HTR3C, HTR3E, EIF2B5, ECE2, DVL3, AP2M1, ABCF3, VWA5B2, MIR1224, ALG3, CAMK2N2	rs1969253-?	NR	5E-6				Affymetrix, Illumina, Perlegen [~ 1200000] (imputed)	N
1988	chr3	184010047	184010048	rs3914188	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	3q27.1	ECE2	rs3914188-G	0.27	3E-7		2.2	[1.42-2.98] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1989	chr3	184045798	184045799	rs939317	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3q27.1	EIF4G1	rs939317-G	0.74	3E-12		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1989	chr3	184090265	184090266	rs6141	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	3q27.1	THPO, POLR2H, CHRD	rs6141-G	0.484	3E-6		0.0		Illumina [1556551]	N
1989	chr3	184090265	184090266	rs6141	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	3q27.1	THPO	rs6141-T	NR	6E-8		2.467	[1.57-3.36] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1989	chr3	184090265	184090266	rs6141	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Platelet count	14,806 Japanese ancestry individuals	NA	3q27.1	THPO, CHRD	rs6141-T	0.45	5E-11		0.076	[0.052-0.100] unit increase	Illumina [561583]	N
1990	chr3	184216129	184216130	rs3930234	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol use disorder factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	3q27.1	intergenic	rs3930234-C	0.15	8E-6		0.104	[NR] unit increase	Illumina [~ 300000]	N
1992	chr3	184514612	184514613	rs4686760	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	3q27.1	VPS8	rs4686760-G	0.46	1E-6	(vWF level)	0.15	[0.09-0.21] IU/dL decrease	Illumina [442728]	N
1994	chr3	184717900	184717901	rs9815925	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	3q27.2	VPS8	rs9815925-A	0.89	9E-6	(Left HG thickness)	0.0374	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1995	chr3	184876782	184876783	rs7647854	21042317	Wray NR	2010-11-02	Mol Psychiatry	Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.	Major depressive disorder	2,431 European ancestry cases, 3,673 European ancestry controls	3,332 European ancestry cases, 3,228 European ancestry controls	3q27.2	C3orf70, EHHADH	rs7647854-G	0.16	5E-6		1.19	[NR]	Affymetrix, Illumina [1251157] (imputed)	N
1996	chr3	184945848	184945849	rs7374394	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	3q27.2	EHHADH	rs7374394-?	0.2035	2E-6	(IED)			Illumina [475971]	N
1997	chr3	185141856	185141857	rs7629245	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	3q27.2	MAP3K13	rs7629245-T	0.15	9E-6	(Smoker)	1.22	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
2000	chr3	185511686	185511687	rs4402960	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	3q27.2	IGF2BP2	rs4402960-T	0.31	1E-17		1.13	[1.09-1.17]	Affymetrix, Illumina [2500000] (imputed)	N
2000	chr3	185511686	185511687	rs4402960	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	3q27.2	IG2BP2	rs4402960-T	0.31	3E-9	(Obese)	1.15	[1.10-1.21]	NR [NR]	N
2000	chr3	185511686	185511687	rs4402960	19401414	Takeuchi F	2009-04-29	Diabetes	Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.	Type 2 diabetes	519 Japanese ancestry cases, 503 Japanese ancestry controls	5,110 Japanese ancestry cases, 6,867 Japanese ancestry controls	3q27.2	IGF2BP2	rs4402960-T	0.31	1E-6		1.14	[1.08-1.21]	Illumina [482625]	N
2000	chr3	185511686	185511687	rs4402960	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	3q27.2	IGF2BP2	rs4402960-T	NR	8E-8		1.17	[1.10-1.25]	Affymetrix, Illumina [2202892] (imputed)	N
2000	chr3	185511686	185511687	rs4402960	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	3q27.2	IGF2BP2	rs4402960-T	0.32	9E-16	(DGI+FUSION+WTCCC)	1.14	[1.11-1.18]	Affymetrix [393453]	N
2000	chr3	185511686	185511687	rs4402960	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	3q27.2	IGF2BP2	rs4402960-T	0.30	9E-16	(DGI+FUSION+WTCCC)	1.14	[1.11-1.18]	Illumina [315635]	N
2000	chr3	185511686	185511687	rs4402960	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Type 2 diabetes	1,464 European ancestry cases, 1,467 European ancestry controls	5,065 European ancestry cases, 5,785 European ancestry controls	3q27.2	IGF2BP2	rs4402960-T	0.29	2E-9		1.17	[1.11-1.23]	Affymetrix [386731]	N
2000	chr3	185529079	185529080	rs1470579	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	3q27.2	IGF2BP2	rs1470579-C	0.34	5E-14		1.19	[1.14-1.24]	Illumina [6209637] (imputed)	N
2000	chr3	185529079	185529080	rs1470579	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	3q27.2	IGF2BP2	rs1470579-C	0.5	2E-19	(South Asian, East Asian, Europeans)	1.08	[1.05-1.09]	Illumina [1232008] (imputed)	N
2000	chr3	185529079	185529080	rs1470579	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	3q27.2	IGF2BP2	rs1470579-C	0.45	4E-9	(South Asians)	1.06	[1.04-1.09]	Illumina [1232008] (imputed)	N
2000	chr3	185529079	185529080	rs1470579	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	3q27.2	IGF2BP2	rs1470579-C	0.45	2E-13	(South Asians, East Asians)	1.06	[1.04-1.08]	Illumina [1232008] (imputed)	N
2000	chr3	185529079	185529080	rs1470579	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	3q27.2	IGF2BP2	rs1470579-C	0.41	5E-6	(Punjabi Sikhs)	1.19	[1.11-1.28]	Illumina [1232008] (imputed)	N
2000	chr3	185529079	185529080	rs1470579	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	3q27.2	IGF2BP2	rs1470579-C	0.41	4E-7	(All Punjabi)	0.88	[0.83 - 0.92]	Illumina [1232008] (imputed)	N
2000	chr3	185529079	185529080	rs1470579	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	3q27.2	IGF2BP2	rs1470579-?	NR	6E-7				Affymetrix, Illumina [~ 2400000] (imputed)	N
2000	chr3	185529079	185529080	rs1470579	22233651	Kwak SH	2012-01-10	Diabetes	A genome-wide association study of gestational diabetes mellitus in Korean women.	Diabetes (gestational)	468 Korean ancestry cases, 1,242 Korean ancestry controls	931 Korean ancestry cases, 783 Korean ancestry controls	3q27.2	IGF2BP2	rs1470579-C	0.293	2E-7		1.332	[1.197-1.484]	Affymetrix [2188613] (imputed)	N
2000	chr3	185529079	185529080	rs1470579	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	3q27.2	IGF2BP2	rs1470579-C		2E-9		1.14	[1.09-1.19]	Affymetrix, Illumina [2426886] (imputed)	N
2000	chr3	185530289	185530290	rs6769511	18711366	Unoki H	2008-08-17	Nat Genet	SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.	Type 2 diabetes	194 Japanese ancestry cases, 1,558 Japanese ancestry controls	5,324 East Asian ancestry cases, 7,037 East Asian ancestry controls, 4,085 European ancestry cases, 5,302 European ancestry controls	3q27.2	IGF2BP2	rs6769511-C	0.32	1E-9		1.23	[1.15-1.31]	Affymetrix [207097]	N
2000	chr3	185531660	185531661	rs1374910	21573907	Parra EJ	2011-05-15	Diabetologia	Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.	Type 2 diabetes	1,804 Hispanic cases, 780 Hispanic controls	European ancestry individuals	3q27.2	IGF2BP2	rs1374910-T	NR	1E-7		1.24	[1.15-1.34]	Affymetrix [315658]	N
2000	chr3	185545718	185545719	rs138306797	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	3q27.2	IGF2BP2	rs138306797-?	NR	3E-6		0.78	[0.47-1.09] unit increase	Illumina [1075436] (imputed)	N
2000	chr3	185548682	185548683	rs720390	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	3q27.2	IGF2BP2	rs720390-A	0.383	1E-29		0.035	[0.029-0.041] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
2000	chr3	185548682	185548683	rs720390	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	3q27.2	IGF2BP2	rs720390-A	0.39	2E-14		0.029	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
2001	chr3	185621828	185621829	rs6444087	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	3q27.2	intergenic	rs6444087-?	0.26	9E-6	(EVNV)	1.28	[NR]	Illumina [~ 518000]	N
2001	chr3	185629567	185629568	rs2002675	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	3q27.2	TRA2B, ETV5	rs2002675-G	0.42	1E-9		2.2	[1.42-2.98] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2001	chr3	185635684	185635685	rs16860328	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	3q27.2	TRA2B, IGF2BP2	rs16860328-G	0.42	1E-16		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
2001	chr3	185686740	185686741	rs10049246	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Attention deficit hyperactivity disorder symptoms (interaction)	909 European ancestry trios	NA	3q27.2	intergenic	rs10049246-G	0.59	8E-6	(int, MW)	0.6	[NR] unit increase	Perlegen [429981]	N
2002	chr3	185824003	185824004	rs1516725	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q27.2	ETV5	rs1516725-C	0.873	1E-12	(EA, men)	0.044	[0.032-0.056] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2002	chr3	185824003	185824004	rs1516725	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q27.2	ETV5	rs1516725-C	0.872	2E-22	(EA)	0.045	[0.036-0.054] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2002	chr3	185824003	185824004	rs1516725	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q27.2	ETV5	rs1516725-C	0.87	2E-15	(EA, women)	0.047	[0.035-0.058] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2002	chr3	185824003	185824004	rs1516725	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q27.2	ETV5	rs1516725-C	0.869	1E-24		0.045	[0.036-0.053] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2002	chr3	185824003	185824004	rs1516725	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	3q27.2	ETV5	rs1516725-C	0.86	3E-9	(Obesity class II)	1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
2002	chr3	185824003	185824004	rs1516725	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	3q27.2	ETV5	rs1516725-C	0.86	4E-8		1.21	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
2002	chr3	185834289	185834290	rs7647305	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	3q27.2	SFRS10, ETV5, DGKG	rs7647305-C	0.77	4E-9		4.0	[2.67-5.33] percentage SD increase	Illumina [305846]	N
2002	chr3	185834289	185834290	rs7647305	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	3q27.2	SFRS10, ETV5, DGKG	rs7647305-C	0.77	7E-11		4.42	[3.09-5.75] % SD increase	Illumina [305846]	N
2002	chr3	185834498	185834499	rs9816226	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	3q27.2	ETV5	rs9816226-T	0.82	2E-14	(Overweight)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
2002	chr3	185834498	185834499	rs9816226	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	3q27.2	ETV5	rs9816226-T	0.82	2E-13	(Obesity class I)	1.1	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
2002	chr3	185834498	185834499	rs9816226	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	3q27.2	ETV5	rs9816226-T	0.82	2E-18		0.14	[0.08-0.20] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
2005	chr3	186213783	186213784	rs11918665	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	3q27.3	NR	rs11918665-G	NR	9E-6	(phenotype 2)	2.7	[NR]	Illumina [> 8000000] (imputed)	N
2005	chr3	186220062	186220063	rs1868152	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	3q27.3	CRYGS	rs1868152-A	0.124	5E-8		15.679	[NR] unit increase	Illumina [527829]	N
2007	chr3	186390626	186390627	rs9898	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	3q27.3	AHSG, FETUB, HRG	rs9898-C	NR	1E-111		1.0	[0.92-1.08] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2007	chr3	186390626	186390627	rs9898	20303064	Houlihan LM	2010-03-18	Am J Hum Genet	Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.	Activated partial thromboplastin time	1,431 European ancestry individuals	NA	3q27.3	HRG	rs9898-T	0.32	1E-11		0.26	[0.19-0.33] unit increase	Illumina [542050]	N
2007	chr3	186433098	186433099	rs11924390	20876611	Wu Y	2010-09-27	Hum Mol Genet	Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.	Adiponectin levels	1,776 Filipino ancestry female individuals	1,774 Filipino ancestry offspring	3q27.3	KNG1	rs11924390-C	0.50	2E-9		0.06	[0.04-0.08] unit decrease	Affymetrix [2073674] (imputed)	N
2007	chr3	186454179	186454180	rs5030062	25477429	Lieb W	2014-12-04	Circ Cardiovasc Genet	Genome-Wide Meta-Analyses of Plasma Renin Activity and Concentration Reveal Association with the Kininogen 1 and Prekallikrein Genes.	Plasma renin activity levels	5,275 European ancestry individuals	NA	3q27.3	KNG1	rs5030062-A	NR	9E-9				Affymetrix, Illumina [~ 2500000] (imputed)	N
2007	chr3	186454179	186454180	rs5030062	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	3q27.3	KNG1	rs5030062-A	0.61	6E-13	(bradykinin, des-arg(9))	0.072	[0.052-0.092] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2007	chr3	186459926	186459927	rs710446	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	3q27.3	RFC4, ADIPOQ, KNG1	rs710446-C	NR	2E-203		1.18	[1.10-1.26] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2007	chr3	186459926	186459927	rs710446	20303064	Houlihan LM	2010-03-18	Am J Hum Genet	Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.	Activated partial thromboplastin time	1,431 European ancestry individuals	NA	3q27.3	KNG1	rs710446-G	0.40	1E-21		0.36	[0.29-0.43] unit decrease	Illumina [542050]	N
2007	chr3	186466251	186466252	rs1656966	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		3q27.3	intergenic	rs1656966-?	0.137	4E-21			[NR]	Affymetrix, Illumina [152234]	N
2007	chr3	186480205	186480206	rs822354	21700879	Qi L	2011-06-23	Diabetes	Novel locus FER is associated with serum HMW adiponectin levels.	Adiponectin levels	1,591 European ancestry female individuals	626 European ancestry individuals from 235 families	3q27.3	ADIPOQ	rs822354-A	0.68	4E-8				Affymetrix [2543887] (imputed)	N
2007	chr3	186501647	186501648	rs266719	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	3q27.3	ADIPOQ	rs266719-T	0.096	7E-7	(Conditioned on rs10937273)	0.13	[0.071-0.189] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2008	chr3	186530483	186530484	rs266717	20011104	Richards JB	2009-12-05	PLoS Genet	A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.	Adiponectin levels	8,531 European ancestry individuals	6,202 European ancestry individuals	3q27.3	ADIPOQ	rs266717-C	0.48	9E-19		1.07	[NR] ug/ml increase	Affymetrix, Illumina [~ 2200000] (imputed)	N
2008	chr3	186548564	186548565	rs6810075	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	3q27.3	ADIPOQ	rs6810075-T	0.93	2E-42		0.06	[0.052-0.068] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2008	chr3	186549694	186549695	rs10937273	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	3q27.3	ADIPOQ	rs10937273-A	0.404	2E-22		0.12	[0.10-0.14] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2008	chr3	186551710	186551711	rs1648707	20011104	Richards JB	2009-12-05	PLoS Genet	A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.	Adiponectin levels	8,531 European ancestry individuals	6,202 European ancestry individuals	3q27.3	ADIPOQ	rs1648707-C	0.07	3E-12		0.94	[NR] ug/ml increase	Affymetrix, Illumina [~ 2200000] (imputed)	N
2008	chr3	186554291	186554292	rs864265	20876611	Wu Y	2010-09-27	Hum Mol Genet	Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.	Adiponectin levels	1,776 Filipino ancestry female individuals	1,774 Filipino ancestry offspring	3q27.3	ADIPOQ	rs864265-G	0.88	1E-19		0.13	[0.10-0.16] unit increase	Affymetrix [2073674] (imputed)	N
2008	chr3	186556036	186556037	rs822387	26299439	Li WD	2015-08-24	Sci Rep	Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.	Adiponectin levels	737 European ancestry females	NA	3q27.3	ADIPOQ	rs822387-?		8E-6				Illumina [up to 550000]	N
2008	chr3	186560781	186560782	rs182052	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	3q27.3	ADIPOQ	rs182052-G	NR	5E-44		0.062	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2008	chr3	186570452	186570453	rs17366568	20018283	Heid IM	2009-12-02	Atherosclerosis	Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.	Adiponectin levels	4,659 European ancestry individuals	13,795 European ancestry individuals	3q27.3	ADIPOQ	rs17366568-G	0.89	1E-41		0.13	[NR] log(ug/ml) increase	Affymetrix, Illumina [2585854] (imputed)	N
2008	chr3	186573704	186573705	rs6773957	19165155	Ling H	2009-01-22	Obesity (Silver Spring)	Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study.	Adiponectin levels	997 European ancestry cases, 989 European ancestry controls	NA	3q27.3	ADIPOQ	rs6773957-A	0.37	5E-8				Affymetrix [398625]	N
2009	chr3	186650789	186650790	rs10937275	19483685	Daly AK	2009-05-31	Nat Genet	HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.	Drug-induced liver injury (flucloxacillin)	58 European ancestry cases, 282 European ancestry controls	NA	3q27.3	ST6GAL1	rs10937275-?	0.09	1E-8	(B*5701 positive)	4.1	[NR]	Illumina [866399]	N
2009	chr3	186666460	186666461	rs16861329	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	3q27.3	ST64GAL1	rs16861329-C	0.85	9E-6		1.03	[0.96-1.10]	Affymetrix, Illumina [2500000] (imputed)	N
2009	chr3	186666460	186666461	rs16861329	21874001	Kooner JS	2011-08-28	Nat Genet	Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.	Type 2 diabetes	5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls	13,170 South Asian ancestry cases, 25,398 South Asian ancestry controls	3q27.3	ST6GAL1	rs16861329-G	0.75	3E-8		1.09	[1.06-1.12]	Illumina [568976]	N
2009	chr3	186684363	186684364	rs6778436	21130132	Mick E	2010-12-01	Prog Neuropsychopharmacol Biol Psychiatry	Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.	Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)	140 child cases	NA	3q27.3	ST6GAL1	rs6778436-A	0.007	5E-6				Affymetrix [316934]	N
2009	chr3	186722943	186722944	rs7652995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs7652995-G	0.176986749442711	7E-17	(IGP35)	0.3659	[0.28-0.45] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186722943	186722944	rs7652995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs7652995-G	0.176843186191537	9E-15	(IGP32)	0.3392	[0.25-0.42] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186722943	186722944	rs7652995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs7652995-G	0.17684106013363	3E-40	(IGP29)	0.5797	[0.49-0.67] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186722943	186722944	rs7652995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs7652995-G	0.176834709131403	4E-16	(IGP24)	0.3532	[0.27-0.44] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186722943	186722944	rs7652995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs7652995-G	0.176770524297815	5E-8	(IGP38)	0.2399	[0.15-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186722943	186722944	rs7652995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs7652995-G	0.176763000890472	5E-19	(IGP15)	0.3911	[0.31-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186722943	186722944	rs7652995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs7652995-G	0.176763000890472	4E-7	(IGP31)	0.2226	[0.14-0.31] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186722943	186722944	rs7652995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs7652995-G	0.176702207496653	5E-8	(IGP37)	0.2394	[0.15-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186722943	186722944	rs7652995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs7652995-G	0.176683507130125	2E-20	(IGP28)	0.4042	[0.32-0.49] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.699626190283401	5E-6	(IGP12)	0.1589	[0.09-0.227] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.699319077951002	3E-37	(IGP32)	0.4479	[0.38-0.52] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.699317446770601	6E-75	(IGP29)	0.6427	[0.57-0.71] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.699243829246545	5E-44	(IGP35)	0.4893	[0.42-0.56] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.699064071907101	6E-11	(IGP23)	0.2297	[0.16-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.699014551202137	6E-17	(IGP31)	0.2934	[0.22-0.36] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.699014551202137	2E-45	(IGP15)	0.4981	[0.43-0.57] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.69898246345811	9E-37	(IGP28)	0.4436	[0.37-0.51] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698919993324432	9E-7	(IGP14)	0.1715	[0.1-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698919993324432	5E-6	(IGP47)	0.1609	[0.092-0.23] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698919993324432	1E-8	(IGP17)	0.1999	[0.13-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698889241071429	2E-6	(IGP36)	0.1678	[0.099-0.237] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698883767483296	4E-31	(IGP24)	0.4048	[0.34-0.47] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698844000445832	3E-6	(IGP30)	0.164	[0.095-0.233] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698840198840838	5E-17	(IGP38)	0.2948	[0.23-0.36] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698797577867024	8E-17	(IGP37)	0.2929	[0.22-0.36] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698789225734639	9E-7	(IGP22)	0.1723	[0.1-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.698789225734639	2E-13	(IGP26)	0.2563	[0.19-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
2009	chr3	186725886	186725887	rs11710456	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	1,848 European ancestry individuals	NA	3q27.3	ST6GAL1	rs11710456-G	0.6936	8E-7	(IgG1G2)	0.044	[0.027-0.061] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186732678	186732679	rs17776120	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	NR	rs17776120-C	0.637453049482681	2E-6	(IGP12)	0.1649	[0.097-0.233] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186732678	186732679	rs17776120	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	NR	rs17776120-C	0.636448318202047	2E-6	(IGP54)	0.1654	[0.097-0.234] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186732724	186732725	rs3821819	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	3q27.3	NR	rs3821819-G	0.632029343569203	3E-6	(IGP13)	0.1633	[0.095-0.231] unit decrease	Illumina [~ 2500000] (imputed)	N
2009	chr3	186738420	186738421	rs7634389	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	3q27.3	ST6GAL1	rs7634389-C	0.435	7E-10		1.132	[1.088-1.178]	Illumina [3792949] (imputed)	N
2010	chr3	186793241	186793242	rs2239612	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer (squamous cell)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	3q27.3	ST6GAL1	rs2239612-T	0.19	6E-14		1.21	[1.15-1.27]	NR [NR]	N
2011	chr3	186937199	186937200	rs3852053	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	3q27.3	MASP1	rs3852053-?		2E-7				Illumina [859311]	N
2014	chr3	187413990	187413991	rs6764050	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	3q27.3	RPT2	rs6764050-G	0.023	9E-7	(EA + AA - GSE)			Affymetrix [421789]	N
2015	chr3	187456708	187456709	rs3733017	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	PR interval	455 African American individuals	NA	3q27.3	BCL6	rs3733017-G		6E-6		10.07	[NR] ms decrease	Illumina [> 930000]	N
2015	chr3	187543341	187543342	rs10513821	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	3q27.3	RTP2, BCL6	rs10513821-A	NR	5E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
2016	chr3	187597926	187597927	rs149049329	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	3q27.3	BCL6, LPP	rs149049329-?	NR	2E-6		0.71	[0.42-1.00] unit increase	Illumina [1075436] (imputed)	N
2016	chr3	187615861	187615862	rs523079	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	3q27.3	BCL6, LPP	rs523079-?		2E-7	(SG)	0.25	[0.13-0.37] unit increase	Illumina [693128]	N
2016	chr3	187649418	187649419	rs6773854	23749188	Tan DE	2013-06-09	Nat Genet	Genome-wide association study of B cell non-Hodgkin lymphoma identifies 3q27 as a susceptibility locus in the Chinese population.	B cell non-Hodgkin lymphoma	253 Singaporean Chinese ancestry cases, 1,438 Singaporean Chinese ancestry controls	1,175 Han Chinese ancestry cases, 5,492 Han Chinese ancestry controls	3q27.3	BCL6, LPP	rs6773854-C	0.21	3E-13		1.44	[1.31-1.59]	Illumina [550946]	N
2016	chr3	187687073	187687074	rs9820070	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	3q27.3	intergenic	rs9820070-C	0.31	1E-11	(BUN)	0.087	[0.062-0.112] unit decrease	Illumina [561583]	N
2016	chr3	187687889	187687890	rs16862782	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		3q27.3	intergenic	rs16862782-?	0.815	5E-7			[NR]	Affymetrix, Illumina [152234]	N
2017	chr3	187705886	187705887	rs184662298	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	3q27.3	NR	rs184662298-G	0.996	2E-6		1.431	[0.85-2.02] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
2017	chr3	187705886	187705887	rs184662298	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	3q27.3	NR	rs184662298-G	0.996	3E-6		1.385	[0.8-1.97] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
2017	chr3	187713717	187713718	rs10937329	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	3q27.3	BCL6, LPP	rs10937329-T	0.69	9E-30		0.01	[0.0082-0.0118] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
2017	chr3	187716885	187716886	rs1553091	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)	83 Japanese ancestry cases, 370 Japanese ancestry controls	NA	3q27.3	LOC100505844	rs1553091-G	0.358	7E-6	(Recessive model)	1.48	[1.053-2.08]	Illumina [733202]	N
2017	chr3	187717539	187717540	rs4686914	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	3q27.3	intergenic	rs4686914-T	0.38	3E-21	(BUN)	0.0242	[0.019-0.029] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
2017	chr3	187740522	187740523	rs6808574	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	3q27.3	LPP	rs6808574-C		6E-9		1.07	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
2017	chr3	187763397	187763398	rs6789987	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q27.3	LPP	rs6789987-C	0.71	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
2017	chr3	187763397	187763398	rs6789987	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	3q27.3	LPP	rs6789987-C	0.71	9E-6	(Women)			Affymetrix, Illumina [2500000] (imputed)	N
2017	chr3	187792710	187792711	rs16862964	24465431	Ma RC	2014-01-20	PLoS One	Familial young-onset diabetes, pre-diabetes and cardiovascular disease are associated with genetic variants of DACH1 in Chinese.	Type 2 diabetes (young onset) and obesity	99 Chinese ancestry cases, 101 Chinese ancestry controls	NA	3q27.3	LPP	rs16862964-G	0.262	7E-6		2.59	[1.71-3.94]	Illumina [425513]	N
2018	chr3	187887576	187887577	rs16863064	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q27.3	NR	rs16863064-G	NR	9E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
2018	chr3	187944923	187944924	rs1975991	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity (interaction)	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	3q28	LPP	rs1975991-?	0.32	6E-6				Illumina [565404]	N
2019	chr3	188072512	188072513	rs9865818	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	3q28	LPP, BCL6	rs9865818-G	0.41	3E-10		1.12	[1.09-1.16]	Affymetrix, Illumina [~ 2500000] (imputed)	N
2019	chr3	188087627	188087628	rs9851967	22951725	Tang XF	2012-09-06	J Invest Dermatol	Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.	Vitiligo	1,117 Han Chinese ancestry cases, 1,701 Han Chinese ancestry controls	5,740 Han Chinese ancestry cases, 10,324 Han Chinese ancestry controls	3q28	LPP	rs9851967-?	0.28	9E-8		1.14	[1.09-1.19]	Illumina [493909]	N
2020	chr3	188112553	188112554	rs1464510	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	3q28	LPP	rs1464510-T	0.44	1E-11		1.31	[1.21-1.41]	Illumina [520460]	N
2020	chr3	188112553	188112554	rs1464510	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	3q28	LPP	rs1464510-A	0.49	3E-40		1.29	[1.25-1.34]	Illumina [292387]	N
2020	chr3	188112553	188112554	rs1464510	18311140	Hunt KA	2008-03-02	Nat Genet	Newly identified genetic risk variants for celiac disease related to the immune response.	Celiac disease	767 European ancestry cases, 1,422 European ancestry controls	1,643 European ancestry cases, 3,406 European ancestry controls	3q28	LPP	rs1464510-A	NR	5E-9		1.23	[1.15-1.32]	Illumina [310605]	N
2020	chr3	188128978	188128979	rs9860547	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	3q28	LPP, BCL6	rs9860547-A	0.4629	1E-9		0.0741	[0.050-0.098] unit increase	Illumina [2400000] (imputed)	N
2020	chr3	188184928	188184929	rs7610761	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q28	NR	rs7610761-A	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
2021	chr3	188246256	188246257	rs11920292	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	3q28	LPP	rs11920292-?		3E-6	(M)	28.44	[16.52-40.36] unit increase	Illumina [693128]	N
2021	chr3	188289696	188289697	rs10937355	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q28	LPP	rs10937355-A	0.367	9E-6	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
2021	chr3	188299901	188299902	rs6444305	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	3q28	LPP	rs6444305-G	0.276	1E-10		1.21	[1.14-1.28]	Illumina [up to 21554489]	N
2022	chr3	188419525	188419526	rs1254774	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	3q28	LPP	rs1254774-?		4E-6				NR [~ 3000000] (imputed)	N
2022	chr3	188420896	188420897	rs1152846	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Weight	Up to 3,925 European individuals	NA	3q28	NR	rs1152846-G	0.77	6E-6	(females + males)	1.7	[NR] kg decrease	Illumina [318237]	N
2022	chr3	188420896	188420897	rs1152846	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	3q28	NR	rs1152846-G	0.77	3E-6	(females +males)	0.09	[NR] kg decrease	Illumina [318237]	N
2022	chr3	188442479	188442480	rs9290877	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	3q28	LPP	rs9290877-C	NR	2E-6		0.04	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
2023	chr3	188584678	188584679	rs13067593	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	3q28	LPP	rs13067593-G		8E-8	(AA)			Illumina [NR]	N
2027	chr3	189113260	189113261	rs6789327	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	3q28	TPRG1	rs6789327-A	0.0012	3E-7		3.7647	[2.33-5.2] unit increase	Illumina [2500000] (imputed)	N
2029	chr3	189343423	189343424	rs7610017	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	3q28	TP63	rs7610017-?	NR		<1 x 10-6 (multiple phenotypes)			Illumina [530992]	N
2029	chr3	189356260	189356261	rs4488809	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	3q28	TP63	rs4488809-C	0.42	4E-9		1.19	[1.12-1.26]	Illumina [596032]	N
2029	chr3	189356260	189356261	rs4488809	21725308	Hu Z	2011-07-03	Nat Genet	A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.	Lung cancer	2,331 Han Chinese ancestry cases, 3,077 Han Chinese ancestry controls	6,313 Han Chinese ancestry cases, 6,409 Han Chinese ancestry controls	3q28	TP63	rs4488809-C	0.47	7E-26		1.26	[1.21-1.32]	Affymetrix [906703]	N
2029	chr3	189357601	189357602	rs13314271	24880342	Wang Y	2014-06-01	Nat Genet	Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.	Lung cancer	3,442 European ancestry adenocarcinoma cases, 3,275 European ancestry squamous cell carcinoma cases, 4,631 cases, up to 15,861 controls	3,589 European ancestry adenocarcinoma cases, 3,202 European ancestry squamous cell carcinoma cases, 3,455 cases, up to 38,295 controls	3q28	TP63	rs13314271-T	0.49	7E-10	(Adenocarcinoma)	1.13	[1.09-1.18]	Illumina [8900000] (imputed)	N
2029	chr3	189383182	189383183	rs10937405	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	3q28	TP63	rs10937405-C	0.67	7E-17		1.25	[1.19-1.32]	Illumina [538166]	N
2029	chr3	189383182	189383183	rs10937405	20871597	Miki D	2010-09-26	Nat Genet	Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.	Lung adenocarcinoma	1,004 Japanese ancestry cases, 1,900 Japanese ancestry controls	1,094 East Asian ancestry cases, 9,148 East Asian ancestry controls	3q28	TP63	rs10937405-C	0.67	7E-12		1.31	[1.22-1.42]	Illumina [432024]	N
2030	chr3	189401775	189401776	rs17505102	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	3q28	TP63	rs17505102-G	0.85	9E-9	(ETV6-RUNX1 positive)	1.5873016	[1.33-1.92]	Affymetrix [355750]	N
2030	chr3	189401775	189401776	rs17505102	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	3q28	TP63	rs17505102-G	0.85	2E-8		1.4705882	[1.28-1.67]	Affymetrix [355750]	N
2030	chr3	189401775	189401776	rs17505102	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	3q28	TP63	rs17505102-C	0.15	3E-8	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
2030	chr3	189508470	189508471	rs9854771	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	3q28	TP63	rs9854771-G	0.638	2E-8		1.1235955	[1.08-1.18]	Illumina [866891] (imputed)	N
2031	chr3	189615474	189615475	rs28512356	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	3q28	TP63	rs28512356-C	0.799	8E-6		1.1	[1.06-1.15]	Illumina [up to 4778154] (imputed)	N
2031	chr3	189615474	189615475	rs28512356	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	3q28	TP63	rs28512356-C	0.799	4E-8	EA	1.17	[1.11-1.24]	Illumina [up to 4778154] (imputed)	N
2031	chr3	189645932	189645933	rs710521	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	3q28	TP63	rs710521-A	0.73	2E-11		1.14	[1.10-1.19]	Illumina [462190]	N
2031	chr3	189645932	189645933	rs710521	20972438	Rothman N	2010-10-24	Nat Genet	A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.	Bladder cancer	3,532 European ancestry cases, 5,120 European ancestry controls	8,381 cases, 48,275 controls	3q28	TP63	rs710521-A	0.73	2E-10		1.18	[1.12-1.24]	Illumina [589299]	N
2031	chr3	189645932	189645933	rs710521	20348956	Kiemeney LA	2010-03-28	Nat Genet	A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.	Urinary bladder cancer	1,889 European ancestry cases, 39,310 European ancestry controls	2,850 European ancestry cases, 6,239 European ancestry controls	3q28	TP63	rs710521-A	0.73	6E-8		1.19	[1.12-1.27]	Illumina [304703]	N
2031	chr3	189645932	189645933	rs710521	18794855	Kiemeney LA	2008-09-14	Nat Genet	Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.	Urinary bladder cancer	1,803 European ancestry cases, 34,336 European ancestry controls	2,165 European ancestry cases, 3,800 European ancestry controls	3q28	TP63	rs710521-A	0.73	1E-7		1.19	[1.12-1.27]	Illumina [302140]	N
2034	chr3	189997395	189997396	rs16865258	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	3q28	CLDN1	rs16865258-?	0.02	2E-6	(quetiapine)			Affymetrix [492900]	N
2036	chr3	190252634	190252635	rs9290936	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Waist circumference	1,779 Filipino ancestry females	NA	3q28	IL1RAP	rs9290936-G	0.61	4E-6		1.79	[1.03-2.55] cm increase	Affymetrix [2073674] (imputed)	N
2036	chr3	190300003	190300004	rs12053868	26268530	Ramanan VK	2015-08-11	Brain	GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.	Longitudinal change in brain amyloid plaque burden	41 European ancestry Alzheimer's disease cases, 294 European ancestry Mild Cognitive Impairment cases, 160 European ancestry cognitively normal individuals	NA	3q28	IL1RAP	rs12053868-G	0.12	1E-9		0.84	[0.57-1.11] unit increase	Illumina [6112217] (imputed)	N
2037	chr3	190350460	190350461	rs7626795	18385676	Amos CI	2008-04-03	Nat Genet	Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.	Lung cancer	1,154 European ancestry cases, 1,137 European ancestry controls	2,724 European ancestry cases, 3,694 European ancestry controls	3q28	IL1RAP	rs7626795-G	NR	8E-6		1.16	[1.05-1.28]	Illumina [317498]	N
2039	chr3	190669517	190669518	rs9877502	23562540	Cruchaga C	2013-04-04	Neuron	GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.	Alzheimer's disease biomarkers	591 European ancestry cases, 687 European ancestry controls		3q28	UTS2D, SNAR-I, GEMC1, OSTNIL1-RAP, CCDC50	rs9877502-A	NR	5E-9	(tau)	0.052	[NR] unit increase	Illumina [5815690] (imputed)	N
2041	chr3	190848751	190848752	rs61174036	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	3q28	intergenic	rs61174036-G	0.7102	9E-6	(Primary)	0.289	[0.16-0.42] unit increase	Affymetrix, Illumina [NR] (imputed)	N
2041	chr3	190880133	190880134	rs11922372	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	3q28	OSTN	rs11922372-C	0.22795	2E-7	EA	1.14	[1.08-1.19]	Illumina [up to 4778154] (imputed)	N
2042	chr3	191000807	191000808	rs10937470	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	3q28	UTS2D	rs10937470-?	NR	9E-6		0.004	[NR] unit decrease	Illumina [478011]	N
2043	chr3	191196591	191196592	rs16822582	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	3q28	NR	rs16822582-?	NR	8E-6		1.4994	[NR]	Affymetrix [722112]	N
2044	chr3	191341578	191341579	rs140130327	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q28	NR	rs140130327-T	NR	8E-7		1.27	[NR]	Illumina [7158791] (imputed)	N
2046	chr3	191521851	191521852	rs1516489	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune response to smallpox vaccine (IL-6)	Up to 512 European ancestry individuals, 199 African American individuals	NA	3q28	LOC100129725	rs1516489-C		8E-8	(AA)			Illumina [NR]	N
2047	chr3	191667776	191667777	rs7635839	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	3q28	intergenic	rs7635839-?	NR	3E-6	(olanzapine)	9.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
2048	chr3	191818641	191818642	rs4585146	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	3q28	FGF12	rs4585146-G	0.65	6E-6	(% improvement - 2 weeks)	1.1643	[1.11-1.22]	Affymetrix, Illumina [1200000] (imputed)	N
2048	chr3	191818641	191818642	rs4585146	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	3q28	FGF12	rs4585146-A	0.362271	3E-7	(% improvement - SSRI treated - 2 weeks)	0.2208	[0.14-0.31] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
2049	chr3	191897217	191897218	rs975121	21139019	Walsh KM	2010-12-07	Endocr Relat Cancer	A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.	Ileal carcinoids	239 European ancestry cases, 107 European ancestry controls	NA	3q28	FGF12	rs975121-?	NR	7E-6		2.17	[1.55-3.03]	Illumina [308330]	N
2049	chr3	191912869	191912870	rs9836672	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep quality	2,315 European ancestry individuals	NA	3q28	FGF12	rs9836672-T	0.05	5E-6		0.27	[0.15-0.39] unit increase	Illumina [2380486] (imputed)	N
2050	chr3	192093974	192093975	rs4453795	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	3q28	FGF12	rs4453795-?	0.41	4E-7	(PC)			Affymetrix [187454]	N
2055	chr3	192772294	192772295	rs13068101	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep time	2,322 European ancestry individuals	NA	3q29	intergenic	rs13068101-A	0.26	7E-6		8.5	[4.80-12.20] unit decrease	Illumina [2380486] (imputed)	N
2061	chr3	193537990	193537991	rs1165640	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Smoking cessation in chronic obstructive pulmonary disease	1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases	NA	3q29	intergenic	rs1165640-C	0.1	9E-6		1.56		Illumina [~ 6300000] (imputed)	N
2061	chr3	193583709	193583710	rs604222	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	3q29	intergenic	rs604222-A	0.1915251	7E-6	(% improvement - SSRI treated - 2 weeks)	0.2173	[0.12-0.31] unit increase	Affymetrix, Illumina [1200000] (imputed)	N
2062	chr3	193722329	193722330	rs724767	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	3q29	NR	rs724767-?	0.115	2E-6		1.436	[1.241-1.663] unit increase	Illumina [563945]	N
2063	chr3	193736372	193736373	rs7635879	25475840	Colodro-Conde L	2014-12-05	Twin Res Hum Genet	A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan.	Breastfeeding duration	1,521 mothers from 1,073 families	NA	3q29	DPPA2P3, LOC647323	rs7635879-?	NR	6E-6		0.176	[0.100-0.252] unit increase	Illumina [6590000] (imputed)	N
2066	chr3	194237897	194237898	rs147484948	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q29	NR	rs147484948-?	NR	1E-7	(Latino)	1.2626	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2067	chr3	194327097	194327098	rs789852	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	3q29	LOC100132805	rs789852-A	0.08	7E-7		0.25	[0.15-0.35] unit increase	Illumina [~ 318327]	N
2070	chr3	194737872	194737873	rs2676917	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	3q29	C3orf21	rs2676917-G		7E-6		0.12	[0.07-0.17] unit increase	Affymetrix [~ 2500000] (imputed)	N
2070	chr3	194758009	194758010	rs3892715	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	3q29	intergenic	rs3892715-C	NR	6E-6	(earlier onset)			Perlegen [429981]	N
2071	chr3	194858373	194858374	rs2131877	20876614	Yoon KA	2010-09-28	Hum Mol Genet	A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population.	Non-small cell lung cancer	621 Korean ancestry cases, 1,541 Korean ancestry controls	804 Korean ancestry cases, 1,470 Korean ancestry controls	3q29	C3orf21	rs2131877-G	0.44	2E-8		1.3	[1.19-1.42]	Affymetrix [246758]	N
2072	chr3	194913029	194913030	rs57827131	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q29	NR	rs57827131-?	NR	1E-6		0.2498	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2072	chr3	195019419	195019420	rs140333256	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3q29	NR	rs140333256-?	NR	1E-7		0.4046	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2073	chr3	195072917	195072918	rs7611238	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q29	ACAP2	rs7611238-A	0.57	1E-6	(EA)	0.018	[0.011-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2073	chr3	195072917	195072918	rs7611238	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	3q29	ACAP2	rs7611238-A	0.569	3E-7		0.018	[0.011-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
2073	chr3	195150496	195150497	rs79900979	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q29	NR	rs79900979-?	NR	7E-8		0.447	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2073	chr3	195150496	195150497	rs79900979	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3q29	NR	rs79900979-?	NR	6E-9		0.4281	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2076	chr3	195505126	195505127	rs73085315	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q29	NR	rs73085315-?	NR	2E-10	(Latino)	1.4698	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2077	chr3	195591722	195591723	rs114951929	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3q29	NR	rs114951929-?	NR	5E-7	(Japanese)	0.7627	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2077	chr3	195596906	195596907	rs2278034	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	3q29	TNK2	rs2278034	0.52	5E-6	(EA)	1.83	[NR]	Illumina [1795103]	N
2078	chr3	195751629	195751630	rs4927850	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	3q29	TFRC	rs4927850-A	NR	2E-7		1.24	[1.14-1.35]	Affymetrix [666141]	N
2078	chr3	195800546	195800547	rs9859260	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	3q29	TFRC	rs9859260-C	NR	8E-14		0.0	[0.002-0.004] fl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2078	chr3	195809138	195809139	rs11915082	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	3q29	TFRC	rs11915082-A	NR	8E-13		0.0	[0.003-0.005] pg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2079	chr3	195827204	195827205	rs9990333	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin saturation)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	3q29	TFRC	rs9990333-T	0.46	7E-8		0.039	[0.025-0.053] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
2079	chr3	195827204	195827205	rs9990333	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	3q29	TFRC	rs9990333-T	0.46	2E-13		0.051	[0.037-0.065] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
2079	chr3	195828126	195828127	rs181104541	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	3q29	NR	rs181104541-?	NR	2E-6	(Japanese)	0.542	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2079	chr3	195834356	195834357	rs11717368	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	3q29	TFRC	rs11717368-C	0.52	7E-19	(EA, MCH)	0.008	[0.00016-0.01584] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
2079	chr3	195907652	195907653	rs4916483	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	3q29	TFRC, ZDHHC19	rs4916483-C	0.44	2E-8		0.067	[0.043-0.091] unit decrease	Illumina [561583]	N
2079	chr3	195907652	195907653	rs4916483	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	3q29	TFRC, ZDHHC19	rs4916483-C	0.44	4E-11		0.078	[0.054-0.102] unit decrease	Illumina [561583]	N
2079	chr3	195928853	195928854	rs11924930	21160409	Petrovski S	2010-12-14	AIDS	Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.	HIV-1 susceptibility	531 Sub-Saharan African ancestry cases, 848 Sub-Saharan African ancestry controls	NA	3q29	ZDHHC19	rs11924930-?	0.40	7E-6				Illumina [~ 800000]	N
2079	chr3	195941215	195941216	rs7642243	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	3q29	SLC51A	rs7642243-C	0.39	8E-16	(X-09789)	0.048	[0.036-0.06] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
2080	chr3	196078426	196078427	rs6774852	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	3q29	UBXD7	rs6774852-G	0.195	7E-6	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
2081	chr3	196187607	196187608	rs2342371	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	3q29	RNF168	rs2342371-G	0.28	4E-6	(univariate, leg)			Illumina [319818]	N
2084	chr3	196482210	196482211	rs843532	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	3q29	PAK2	rs843532-?		9E-6	(SI+M)	0.29	[0.055-0.525] unit increase	Illumina [693128]	N
2084	chr3	196546528	196546529	rs10446497	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	3q29	NR	rs10446497-G	NR	9E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
2084	chr3	196553866	196553867	rs2084385	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	3q29	PAK2	rs2084385-?	NR	5E-6		0.006	[NR] unit increase	Illumina [478011]	N
2088	chr3	197079585	197079586	rs6583203	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	3q29	DLG1	rs6583203-?	NR	1E-8	(Latino)	1.65	[1.48-1.83]	Affymetrix, Illumina [NR] (imputed)	N
2090	chr3	197265433	197265434	rs11919456	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	3q29	NR	rs11919456-?	NR	7E-7	(AA)	0.3125	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2092	chr3	197581146	197581147	rs9863587	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	3q29	LRCH3	rs9863587-?	0.624	7E-6	(Dichotomous PC20)	1.25	[NR]	Illumina [546355]	N
587	chr4	282498	282499	rs11723261	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	4p16.3	LOC654254	rs11723261-?		4E-6	(EA)			Illumina [NR]	N
589	chr4	591472	591473	rs35476224	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4p16.3	NR	rs35476224-?	NR	1E-7		0.3139	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
590	chr4	735149	735150	rs4234853	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	4p16.3	PCGF3	rs4234853-A	0.27	6E-6	(PS levels)	4.88	[2.76-7.00] iu/ml decrease	Illumina [472123]	N
591	chr4	852312	852313	rs1564282	18985386	Pankratz N	2008-11-06	Hum Genet	Genomewide association study for susceptibility genes contributing to familial Parkinson disease.	Parkinson's disease (familial)	1,119 European ancestry cases, 1,127 European ancestry controls	NA	4p16.3	GAK, DGKQ	rs1564282-T	0.09	7E-7		1.7	[NR]	Illumina [328189]	N
591	chr4	858331	858332	rs11248051	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	4p16.3	GAK	rs11248051-T	0.09	3E-9		1.46	[1.29-1.65]	Illumina [811597]	N
592	chr4	939086	939087	rs6599388	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	4p16.3	GAK	rs6599388-T	0.31	4E-12		1.16	[1.12-1.20]	Illumina [7689524] (imputed)	N
592	chr4	939112	939113	rs6599389	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	4p16.3	GAK	rs6599389-A	0.075	4E-8		1.31	[1.19-1.44]	Illumina [522782]	N
592	chr4	941517	941518	rs2290402	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	4p16.3	TMEM175	rs2290402-?	NR	7E-6	(AA)			Affymetrix, Illumina [2579389] (imputed)	N
592	chr4	951946	951947	rs34311866	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	4p16.3	TMEM175, GAK, DGKQ	rs34311866-C	0.191	1E-43		1.27	[1.24-1.30]	Illumina [7893274] (imputed)	N
592	chr4	964358	964359	rs11248060	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	4p16.3	DGKQ	rs11248060-?	NR	3E-9		1.26	[NR]	Illumina [2500000] (imputed)	N
592	chr4	964358	964359	rs11248060	22438815	Lill CM	2012-03-15	PLoS Genet	Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.	Parkinson's disease	2,197 cases, 2,061 controls	Up to 98,080 European and Asian ancestry individuals	4p16.3	GAK, DGKQ	rs11248060-?	0.12	3E-12	(EA)	1.21	[1.15-1.27]	Illumina, Perlegen [7123920] (imputed)	N
592	chr4	964358	964359	rs11248060	20070850	Edwards TL	2010-01-13	Ann Hum Genet	Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.	Parkinson's disease	1,752 European ancestry cases, 1,745 European ancestry controls	NA	4p16.3	DGKQ	rs11248060-?	NR	2E-6				Illumina [495715] (imputed)	N
592	chr4	994413	994414	rs3755955	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	4p16.3	IDUA	rs3755955-A	0.16	5E-15	(LSBMD)	0.06	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
592	chr4	999444	999445	rs6827815	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	4p16.3	FGFRL1	rs6827815-?	NR	5E-12	(FNK)			Affymetrix, Illumina [5842825] (imputed)	N
592	chr4	1039214	1039215	rs62296075	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p16.3	FGFRL1	rs62296075-G	0.023	4E-6	(Sedentary activity )	0.03	[NR] min/d increase	Illumina [899892]	N
593	chr4	1078186	1078187	rs1670533	18239089	Kong A	2008-02-02	Science	Sequence variants in the RNF212 gene associate with genome-wide recombination rate.	Recombination rate (females)	1,702 female individuals	1,663 female individuals	4p16.3	RNF212, SPON2	rs1670533-C	0.23 (men and women combined)	2E-12		88.2	[63.7-112.7] cM increase	Illumina [309241]	N
593	chr4	1095280	1095281	rs3796619	18239089	Kong A	2008-02-02	Science	Sequence variants in the RNF212 gene associate with genome-wide recombination rate.	Recombination rate (males)	1,887 male individuals	1,248 male individuals	4p16.3	RNF212, SPON2	rs3796619-T	0.33 (men and women combined)	3E-24		70.7	[57.1-84.3] cM decrease	Illumina [309241]	N
594	chr4	1254534	1254535	rs7656416	22456796	Imamura M	2012-03-28	Hum Mol Genet	A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.	Type 2 diabetes	4,470 Japanese ancestry cases, 3,071 Japanese ancestry controls	7,605 Japanese ancestry cases, 3,534 Japanese ancestry controls	4p16.3	MGC21675	rs7656416-?	0.675	1E-8		1.15	[1.10-1.21]	NR [2229890] (imputed)	N
594	chr4	1291112	1291113	rs13108904	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p16.3	MAEA, KIAA1530	rs13108904-A	0.357	2E-6	(HRmax )	0.04	[NR] bpm increase	Illumina [899892]	N
594	chr4	1309900	1309901	rs6815464	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	4p16.3	MAEA	rs6815464-G	0.64	2E-7		1.1236	[1.08-1.18]	Illumina [6209637] (imputed)	N
594	chr4	1309900	1309901	rs6815464	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	4p16.3	MAEA	rs6815464-C	0.58	2E-20		1.13	[1.10-1.16]	Affymetrix, Illumina [2626356] (imputed)	N
595	chr4	1365126	1365127	rs13118159	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	4p16.3	RP11-1244E8.1	rs13118159-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
597	chr4	1701316	1701317	rs2247341	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4p16.3	SLBP/FGFR3	rs2247341-A	0.36	2E-11		0.025	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
598	chr4	1734238	1734239	rs798766	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	4p16.3	TMEM129, TACC3, FGFR3	rs798766-T	0.19	7E-25		1.22	[1.18-1.27]	Illumina [462190]	N
598	chr4	1734238	1734239	rs798766	20972438	Rothman N	2010-10-24	Nat Genet	A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.	Bladder cancer	3,532 European ancestry cases, 5,120 European ancestry controls	8,381 cases, 48,275 controls	4p16.3	TMEM129, TACC3, FGFR3	rs798766-T	0.19	4E-13		1.2	[1.14-1.26]	Illumina [589299]	N
598	chr4	1734238	1734239	rs798766	20348956	Kiemeney LA	2010-03-28	Nat Genet	A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.	Urinary bladder cancer	1,889 European ancestry cases, 39,310 European ancestry controls	2,850 European ancestry cases, 6,239 European ancestry controls	4p16.3	TMEM129, SLBP, TACC3, FGFR3	rs798766-T	0.19	1E-11		1.24	[1.17-1.32]	Illumina [304703]	N
601	chr4	2103095	2103096	rs1923775	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	4p16.3	POLN	rs1923775-T	0.25	6E-6		1.6	[1.30-1.95]	Illumina [2505093] (imputed)	N
602	chr4	2292920	2292921	rs4602560	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	4p16.3	NR	rs4602560-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
603	chr4	2395296	2395297	rs959770	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	4p16.3	ZFYVE28	rs959770-?	NR	9E-6	(Positive symptoms)	0.1198	[NR] unit decrease	Affymetrix [696491]	N
611	chr4	3444502	3444503	rs2073505	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	4p16.3	HGFAC	rs2073505-A	0.07545	1E-7	(EA)	1.0996872	[1.06-1.14]	Affymetrix, Illumina [~ 9000000] (imputed)	N
611	chr4	3444502	3444503	rs2073505	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	4p16.3	HGFAC	rs2073505-A	0.07545	9E-7	(EA)	1.1113101	[1.07-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
611	chr4	3449651	3449652	rs16844401	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	4p16.3	HGFAC, LRPAP1	rs16844401-A	0.08	2E-8	(EA)	0.015	[0.0091-0.0209] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
611	chr4	3452344	3452345	rs59950280	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	4p16.3	LRPAP1	rs59950280-A	0.31	1E-10		0.044	[0.03-0.058] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
611	chr4	3452344	3452345	rs59950280	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	4p16.3	LRPAP1	rs59950280-A	0.31	1E-10		0.044	[0.03-0.058] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
611	chr4	3473138	3473139	rs6831256	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	4p16.3	LRPAP1	rs6831256-G	0.42	2E-12		0.026	[NR] mg/dL increase	NR [NR] (imputed)	N
611	chr4	3473138	3473139	rs6831256	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	4p16.3	LRPAP1	rs6831256-G	0.42	2E-8		0.022	[NR] unit increase	NR [NR] (imputed)	N
611	chr4	3473138	3473139	rs6831256	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	4p16.3	LRPAP1	rs6831256-G	0.42	1E-10		0.025	[NR] unit increase	NR [NR] (imputed)	N
617	chr4	4252955	4252956	rs2980098	24351856	Nanayakkara S	2013-12-18	J Occup Health	An integrative study of the genetic, social and environmental determinants of chronic kidney disease characterized by tubulointerstitial damages in the North Central Region of Sri Lanka.	Glomerular filtration rate	301 Sri Lankan Sinhalese ancestry cases, 276 Sri Lankan Sinhalese ancestry controls	NA	4p16.3	TMEM128	rs2980098-G	0.49	4E-6		9.11	[NR] unit increase	Illumina [543848]	N
620	chr4	4648046	4648047	rs870142	23708191	Cordell HJ	2013-05-26	Nat Genet	Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.	Congenital heart disease	1,479 European ancestry congenital heart disease cases, 340 European ancestry ostium secundum atrial septal defect cases, 5,159 European ancestry controls	417 European ancestry ostium secundum atrial septal defect cases, 209 European ancestry ventricular septal defect cases, 2,520 European ancestry controls	4p16.2	STX18, MSX1, LOC100507266	rs870142-A	0.228	3E-10	(ASD)	1.456	[NR]	Illumina [514952]	N
620	chr4	4678906	4678907	rs7675915	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4p16.2	NR	rs7675915-?	NR	3E-8	(Latino)	0.6309	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
620	chr4	4678906	4678907	rs7675915	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4p16.2	NR	rs7675915-?	NR	3E-8		0.3501	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
620	chr4	4704013	4704014	rs4476553	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	4p16.2	intergenic	rs4476553-?	NR	3E-6	(SF5)			Affymetrix [5476100] (imputed)	N
621	chr4	4719493	4719494	rs1000579	22004471	Frank J	2011-10-18	Addict Biol	Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.	Alcohol dependence	1,333 European ancestry male cases, 2,168 European ancestry male controls	NA	4p16.2	NR	rs1000579-?	NR	4E-7		1.3	[1.17-1.43]	Illumina [463044]	N
623	chr4	5035586	5035587	rs6446315	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4p16.2	CYTL1	rs6446315-A	0.833	4E-11		0.028	[0.02-0.036] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
623	chr4	5110139	5110140	rs6833812	23834954	Kobayashi D	2013-07-08	Mol Pain	Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.	Sensory disturbances after bilateral sagittal split ramus osteotomy	Up to 105 individuals	Up to 200 individuals	4p16.2	STK32B	rs6833812-?	NR	7E-6	(Hypoesthesia, Recessive)			Illumina [243229]	N
624	chr4	5153144	5153145	rs10516173	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	4p16.2	NR	rs10516173-T	NR	5E-6	(phenotype 2)	2.85	[NR]	Illumina [> 8000000] (imputed)	N
624	chr4	5162388	5162389	rs13128441	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	4p16.2	STK32B	rs13128441-C		8E-6				Illumina [944512] (imputed)	N
624	chr4	5221537	5221538	rs2008242	19389651	Smith JG	2009-02-15	Heart Rhythm	Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.	Electrocardiographic conduction measures	1,262 Kosraen individuals	NA	4p16.2	MSX1	rs2008242-?	0.15	3E-6	(PR segment)			Affymetrix [338049]	N
624	chr4	5237152	5237153	rs78647349	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		4p16.2	STK32B	rs78647349-?	0.04	5E-7		0.3	unit decrease	Illumina [NR] (imputed)	N
625	chr4	5367984	5367985	rs7697839	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	4p16.2	STK32B	rs7697839-?,rs7673097-?	(GG)	2E-11	(Coronary artery disease)			Affymetrix [407576]	N
625	chr4	5368223	5368224	rs7673097	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	4p16.2	STK32B	rs7697839-?,rs7673097-?	(GG)	2E-11	(Coronary artery disease)			Affymetrix [407576]	N
628	chr4	5758868	5758869	rs735172	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	4p16.2	EVC	rs735172-?	NR	2E-6	(rs887391)	1.31	[1.17-1.46]	Affymetrix, Illumina [1117531] (imputed)	N
629	chr4	5849820	5849821	rs7675861	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	4p16.2	NR	rs7675861-?	NR	3E-6		2.885	[NR]	Illumina [4196861] (imputed)	N
630	chr4	5930032	5930033	rs4333127	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	4p16.2	CRMP1, FLJ46481	rs4333127-?	NR	3E-6		0.218	[0.13-0.31] unit increase	Illumina [> 2500000] (imputed)	N
630	chr4	5976103	5976104	rs6835174	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	4p16.2	NR	rs6835174-T	NR	3E-6		0.34	[0.2-0.48] unit increase	NR [5896100] (imputed)	N
630	chr4	6018890	6018891	rs4689318	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	4p16.1	intergenic	rs4689318-?	NR	7E-6	(Recessive model)	0.74	unit decrease	Illumina [542562]	N
631	chr4	6058496	6058497	rs16838131	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	4p16.1	JAKMIP1	rs16838131-A	NR	2E-6	(AA)	2.26	[1.01-3.51] unit decrease	Affymetrix [~ 2300000] (imputed)	N
632	chr4	6177134	6177135	rs4689355	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	4p16.1	JAKMIP1	rs4689355-?	NR	5E-7	(Recessive model)	0.61	unit increase	Illumina [542562]	N
632	chr4	6183183	6183184	rs10937705	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p16.1	NR	rs10937705-G	0.779354751351351	4E-6	(IGP20)	0.1717	[0.099-0.244] unit decrease	Illumina [~ 2500000] (imputed)	N
632	chr4	6270055	6270056	rs4689388	19734900	Rung J	2009-09-06	Nat Genet	Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.	Type 2 diabetes and other traits	679 European ancestry cases, 697 European ancestry controls	5,579 European ancestry cases, 7,096 European ancestry controls	4p16.1	PPP2R2C, WFS1	rs4689388-T	0.57	1E-8		1.16	[1.10-1.21]	Illumina [392365]	N
632	chr4	6289985	6289986	rs4458523	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	4p16.1	WFS1	rs4458523-G	0.59	2E-9		1.09	[1.06-1.13]	Affymetrix, Illumina [2500000] (imputed)	N
633	chr4	6303021	6303022	rs1801214	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	4p16.1	WFS1	rs1801214-T		3E-8		1.13	[1.08-1.18]	Affymetrix, Illumina [2426886] (imputed)	N
634	chr4	6546432	6546433	rs9654056	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	4p16.1	PPP2R2C	rs9654056-?	NR	9E-6	(Total power, Cz)	0.098	[0.055-0.141] unit decrease	Illumina [527829]	N
636	chr4	6697765	6697766	rs3822262	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p16.1	S100P	rs3822262-C	0.363	3E-6	(Total energy expenditure RQ)	0.03	[NR] unit increase	Illumina [899892]	N
636	chr4	6736364	6736365	rs7661864	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p16.1	NR	rs7661864-G	0.699190685672515	5E-6	(IGP52)	0.3307	[0.19-0.47] unit increase	Illumina [~ 2500000] (imputed)	N
637	chr4	6883011	6883012	rs3733606	25705162	Oh JH	2014-12-31	Genomics Inform	Genome-wide association study identifies candidate Loci associated with platelet count in koreans.	Platelet count	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	4p16.1	KIAA0232	rs3733606-G	0.5	1E-10		5.65	[3.73-7.57] unit decrease	Affymetrix [2152228] (imputed)	N
637	chr4	6891518	6891519	rs11734132	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	4p16.1	KIAA0232	rs11734132-G	NR	6E-7		0.1	[NR] unit increase	Illumina [476395]	N
637	chr4	6891518	6891519	rs11734132	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	4p16.1	KIAA0232	rs11734132-G	NR	1E-11		0.011	[0.0071-0.0149] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
638	chr4	7018184	7018185	rs16839553	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p16.1	NR	rs16839553-G	0.992978201291118	8E-6	(IGP65)	1.1375	[0.64-1.64] unit increase	Illumina [~ 2500000] (imputed)	N
639	chr4	7159701	7159702	rs3894944	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	4p16.1	SORCS2	rs3894944-A	0.77	3E-6	(AA)	0.18	[0.1-0.26] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
640	chr4	7215321	7215322	rs4689642	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	4p16.1	SORCS2	rs4689642-G	0.254	4E-7	(HRTSE)	1.01	[0.62-1.4] unit increase	Illumina [799713]	N
640	chr4	7219932	7219933	rs4234798	21216879	Kaplan RC	2011-01-07	Hum Mol Genet	A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.	Insulin-like growth factors	10,280 European ancestry individuals	NA	4p16.1	SORCS2	rs4234798-T	0.39	5E-10	(IGFBP-3)			Affymetrix, Illumina [~ 2500000] (imputed)	N
641	chr4	7423750	7423751	rs7694661	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p16.1	SORCS2	rs7694661-A	0.406	9E-6	(Fat mass deposition )	0.03	[NR] kcal/d increase	Illumina [899892]	N
641	chr4	7423750	7423751	rs7694661	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p16.1	SORCS2	rs7694661-A	0.406	3E-6	(Fat mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
641	chr4	7459874	7459875	rs62277617	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	4p16.1	SORCS2	rs62277617-G	0.9132	8E-6		0.7386	[0.42-1.06] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
644	chr4	7853159	7853160	rs4619890	25173105	Gharahkhani P	2014-08-31	Nat Genet	Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,155 European ancestry cases, 1,922 European ancestry controls	3,548 European ancestry cases, 9,496 European ancestry controls	4p16.1	AFAP1	rs4619890-G	0.50	7E-10		1.2	[NR]	Illumina [7594768] (imputed)	N
649	chr4	8503358	8503359	rs1949733	21659360	Wade R	2011-06-09	Haematologica	Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.	Response to antineoplastic agents	356 European ancestry cases	380 European ancestry cases	4p16.1	C4orf23, ACOX3	rs1949733-A	NR	8E-7		2.36	[1.60-3.47]	Illumina [326385]	N
650	chr4	8643084	8643085	rs12510524	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	4p16.1	NR	rs12510524-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
659	chr4	9790711	9790712	rs1850744	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	4p16.1	intergenic	rs1850744-T	NR	4E-6	(Risk)	0.305	[0.18-0.43] unit increase	Illumina [628922]	N
660	chr4	9915740	9915741	rs11722228	25967671	Li C	2015-05-13	Nat Commun	Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.	Gout	1,255 Han Chinese ancestry male cases, 1,848 Han Chinese ancestry male controls	3,020 Han Chinese ancestry male cases, 4,424 Han Chinese ancestry male controls	4p16.1	NR	rs11722228-T	0.274	8E-6		1.53	[NR]	Affymetrix [603505]	N
660	chr4	9915740	9915741	rs11722228	24513273	Yang B	2014-02-11	BMC Med Genomics	A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.	Serum uric acid levels	3,451 Han Chinese ancestry individuals	8,830 Chinese ancestry individuals	4p16.1	SLC2A9	rs11722228-T	0.31	9E-31		0.043	[0.035-0.051] unit increase	Affymetrix, Illumina [658288]	N
660	chr4	9915740	9915741	rs11722228	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Urate levels	8,868 Japanese ancestry individuals	NA	4p16.1	SLC2A9	rs11722228-T	0.45	7E-24		0.164	[0.13-0.2] unit increase	Illumina [561583]	N
660	chr4	9920346	9920347	rs10805346	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	4p16.1	SLC2A9	rs10805346-C	0.43	1E-31	(men)	0.17	[0.14-0.2] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
660	chr4	9920346	9920347	rs10805346	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	4p16.1	SLC2A9	rs10805346-C	0.44	4E-14	(men)	0.164	[0.12-0.21] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
660	chr4	9922166	9922167	rs16890979	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	4p16.1	SLC2A9	rs16890979-C	0.75	1E-29	(Men)	0.254	[0.21-0.3] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
660	chr4	9922166	9922167	rs16890979	18834626	Dehghan A	2008-10-01	Lancet	Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.	Urate levels	11,847 European ancestry individuals	11,024 European ancestry individuals, 3,843 African American individuals	4p16.1	SLC2A9	rs16890979-T	0.23	7E-168	(EA)	0.34	[0.30-0.38] SD decrease in serum uric acid level	Affymetrix, Illumina [up to 530683]	N
660	chr4	9922166	9922167	rs16890979	18759275	McArdle PF	2008-09-01	Arthritis Rheum	Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.	Uric acid levels	408 Old Order Amish female individuals, 460 Old Order Amish male individuals	Framingham Heart Study (Sample size NR)	4p16.1	GLUT9	rs16890979-?	NR	1E-11		0.44	[0.32-0.56] mg/dl decrease in uric serum levels	Affymetrix [361034]	N
660	chr4	9923003	9923004	rs734553	21983786	Sulem P	2011-10-09	Nat Genet	Identification of low-frequency variants associated with gout and serum uric acid levels.	Serum uric acid levels	15,506 European ancestry individuals	NA	4p16.1	SLC2A9	rs734553-T	0.79	1E-80		0.24	[0.22-0.27] s.d. increase	Illumina [15957390] (imputed)	N
660	chr4	9923003	9923004	rs734553	21983786	Sulem P	2011-10-09	Nat Genet	Identification of low-frequency variants associated with gout and serum uric acid levels.	Gout	968 European ancestry cases, 40,000 European ancestry controls	NA	4p16.1	SLC2A9	rs734553-T	0.790	2E-7		1.39	[1.23-1.59]	Illumina [15957390] (imputed)	N
660	chr4	9923003	9923004	rs734553	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	4p16.1	SLC2A9	rs734553-T	0.77	1E-41	(men)	0.22	[0.188-0.252] mg/dl increase	Affymetrix, Illumina [2493963] (imputed)	N
660	chr4	9923003	9923004	rs734553	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	4p16.1	SLC2A9	rs734553-T	0.77	1E-192	(women)	0.4	[0.371-0.423] mg/dl increase	Affymetrix, Illumina [2493963] (imputed)	N
660	chr4	9924318	9924319	rs6832439	24379826	Voruganti VS	2013-12-16	Front Genet	Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans.	Serum uric acid levels	632 Mexican American individuals	NA	4p16.1	SLC2A9	rs6832439-A	0.36	3E-8				Illumina [NR] (imputed)	N
660	chr4	9925691	9925692	rs938554	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4p16.1	SLC2A9	rs938554-C	0.23	6E-93	(urate)	0.035	[0.031-0.039] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
660	chr4	9926966	9926967	rs13129697	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	4p16.1	SLC2A9	rs13129697-G	0.28	3E-111	(women)	0.412	[0.38-0.45] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
660	chr4	9926966	9926967	rs13129697	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	4p16.1	SLC2A9	rs13129697-G	0.28	3E-59	(women)	0.376	[0.33-0.42] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
660	chr4	9926966	9926967	rs13129697	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	4p16.1	SLC2A9	rs13129697-G	0.28	8E-150	(Women)	0.403	[0.37-0.43] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
660	chr4	9926966	9926967	rs13129697	22229870	Karns R	2012-01-09	Ann Hum Genet	Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.	Uric acid levels	1,300 European ancestry individuals	NA	4p16.1	WDR1, SLC2A9	rs13129697-G	0.36	2E-19		28.99	[NR] umol/L decrease	Affymetrix [2241249] (imputed)	N
660	chr4	9926966	9926967	rs13129697	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	4p16.1	SLC2A9	rs13129697-T	0.73	4E-13	(Gout)	1.52	[1.35-1.69]	Affymetrix, Illumina [~ 2500000] (imputed)	N
660	chr4	9926966	9926967	rs13129697	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	4p16.1	SLC2A9	rs13129697-G	0.27	2E-242	(Urate)	22.21	[20.90-23.52] umol/l decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
660	chr4	9926966	9926967	rs13129697	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	4p16.1	SLC2A9	rs13129697-C	0.25	1E-9	(uric acid)	0.29	[0.21-0.37] umol/l decrease	Illumina [316730]	N
660	chr4	9927619	9927620	rs6838021	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	4p16.1	SLC2A9	rs6838021-A	0.23	6E-68	(urate/histidine)	0.043	[0.037-0.049] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
660	chr4	9934743	9934744	rs737267	25898920	Korostishevsky M	2015-04-22	Eur J Hum Genet	Genomics and metabolomics of muscular mass in community-based sample of UK females.	Blood metabolite levels	3,953 European ancestry individuals	NA	4p16.1	NR	rs737267-?	NR	2E-59	(Urate levels)			Illumina [2300000]	N
660	chr4	9934743	9934744	rs737267	18327257	Vitart V	2008-03-09	Nat Genet	SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.	Urate levels	794 European ancestry individuals	706 European ancestry individuals	4p16.1	SLC2A9	rs737267-C	0.31	3E-9		0.88	[NR] uM decrease in uric acid [females only]	Illumina [308140]	N
660	chr4	9935909	9935910	rs6855911	17997608	Li S	2007-11-09	PLoS Genet	The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.	Urate levels	4,305 Sardinian individuals	1,301 European ancestry individuals	4p16.1	GLUT9	rs6855911-A	0.74	2E-16		0.32	[NR] mg/dl increase	Affymetrix [362129]	N
660	chr4	9944051	9944052	rs12498742	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	4p16.1	SLC2A9	rs12498742-A	0.77	1E-700		0.373	[0.36-0.38] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
660	chr4	9946655	9946656	rs4475146	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Gout	2,115 European ancestry cases, 67,259 European ancestry controls	1,036 European ancestry cases	4p16.1	SLC2A9	rs4475146-A	0.2237	4E-26		0.4682	[0.38-0.55] unit decrease	Affymetrix, Illumina [2538056] (imputed)	N
660	chr4	9956078	9956079	rs4481233	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	4p16.1	SLC2A9	rs4481233-T	0.193	6E-34	(urate, histidine)	0.074	[NR] unit decrease	Affymetrix, Illumina [534665]	N
661	chr4	9966379	9966380	rs7442295	18327256	Doring A	2008-03-09	Nat Genet	SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.	Urate levels	1,644 European ancestry individuals	9,947 European ancestry individuals	4p16.1	SLC2A9	rs7442295-C	0.40	3E-70		0.35	[NR] mg/dl decrease in uric acid	Affymetrix [335152]	N
661	chr4	9966379	9966380	rs7442295	18179892	Wallace C	2008-01-10	Am J Hum Genet	Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.	Urate levels	1,955 European ancestry hypertensive individuals	2,033 European ancestry individuals from 519 families, 1,461 European ancestry twins	4p16.1	WDR1, SLC2A9	rs7442295-A	0.79	2E-15		0.02	[0.02-0.03] mMol/L increase	Affymetrix [400496]	N
661	chr4	9978304	9978305	rs16868246	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4p16.1	SLC2A9	rs16868246-C	0.21	2E-14	(histidine)	0.01	[0.008-0.012] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
661	chr4	9985595	9985596	rs7680126	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	4p16.1	SLC2A9	rs7680126-G	0.22	3E-92		0.271	[0.25-0.3] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
661	chr4	9985595	9985596	rs7680126	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	4p16.1	SLC2A9	rs7680126-G	0.21	6E-62		0.298	[0.26-0.33] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
661	chr4	9985595	9985596	rs7680126	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	4p16.1	SLC2A9	rs7680126-G	0.22	2E-134		0.341	[0.31-0.37] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
661	chr4	9994214	9994215	rs6449213	23703922	Li WD	2013-01-02	Obesity (Silver Spring)	A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.	Uric acid levels	487 European ancestry obese individuals, 472 non-obese individuals	NA	4p16.1	SLC2A9	rs6449213-?	NR	3E-12				Illumina [~ 550000]	N
661	chr4	9994214	9994215	rs6449213	23703922	Li WD	2013-01-02	Obesity (Silver Spring)	A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.	Uric acid levels	487 European ancestry obese individuals, 472 non-obese individuals	NA	4p16.1	SLC2A9	rs6449213-?	NR	2E-7	(Obese)			Illumina [~ 550000]	N
661	chr4	9995181	9995182	rs3775948	25646370	Matsuo H	2015-02-02	Ann Rheum Dis	Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.	Gout	945 Japanese ancestry cases, 1,213 Japanese ancestry controls	1,048 Japanese ancestry cases, 1,334 Japanese ancestry controls	4p16.1	SLC2A9	rs3775948-G	0.56	6E-27		1.61	[1.47-1.75]	Illumina [570442]	N
661	chr4	9995181	9995182	rs3775948	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (urea)	21,417 East Asian ancestry individuals	11,657 East Asian ancestry individuals	4p16.1	SLC2A9	rs3775948-C	0.59	2E-65		0.1786	[0.16-0.20] mg/dl increase	Affymetrix, Illumina [2278301] (imputed)	N
661	chr4	9995181	9995182	rs3775948	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	4p16.1	SLC2A9	rs3775948-G	0.34	1E-8		0.211	[0.14-0.28] unit decrease	Affymetrix [2366856] (imputed)	N
661	chr4	10036338	10036339	rs3733585	24516586	Wu T	2014-02-06	PLoS One	Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.	Cleft plate (environmental tobacco smoke interaction)	259 Asian ancestry cases and their unaffected parents,  272 European ancestry cases and their unaffected parents, 19 cases and their unaffected parents	NA	4p16.1	WDR1, SLC2A9	rs3733585-C	0.412	2E-6		2.58	[1.61-4.14]	Illumina [~ 498000]	N
661	chr4	10050140	10050141	rs733175	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	4p16.1	SLC2A9	rs733175-?	0.18	5E-6		1.37	[NR]	Illumina [1847262] (imputed)	N
661	chr4	10056375	10056376	rs7671266	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	4p16.1	WDR1	rs7671266-T	0.21	9E-71	(UA)	0.305	[0.27-0.34] umol/l decrease	Illumina [NR] (imputed)	N
663	chr4	10274993	10274994	rs17407555	21688384	Wang	2011-06-17	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of age at onset in schizophrenia in a European-American sample	Schizophrenia (age at onset)	1,162 European ancestry cases	1,068 European ancestry cases	4p16.1	RAF1P1, WDR1	rs17407555-?		5E-6		1.501	[NR] unit decrease	Affymetrix [722112]	N
663	chr4	10286300	10286301	rs4698014	23703922	Li WD	2013-01-02	Obesity (Silver Spring)	A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.	Uric acid levels	487 European ancestry obese individuals, 472 non-obese individuals	NA	4p16.1	SLC2A9	rs4698014-?	NR	8E-13	(Non-obese)			Illumina [~ 550000]	N
663	chr4	10324159	10324160	rs9291683	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Bone mineral density	Up to 1,141 individuals from 241 families	NA	4p16.1	intergenic	rs9291683-?	NR	2E-6	(BUA)			Affymetrix [70897]	N
663	chr4	10331293	10331294	rs4698036	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	4p16.1	intergenic	rs4698036-G	0.22	2E-52	(UA)	0.257	[0.22-0.29] umol/l decrease	Illumina [NR] (imputed)	N
666	chr4	10726852	10726853	rs16872571	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		4p16.1	intergenic	rs16872571-?	0.519	2E-10			[NR]	Affymetrix, Illumina [152234]	N
666	chr4	10726852	10726853	rs16872571	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	4p16.1	CLNK	rs16872571-C	0.56	2E-8		1.21	[NR]	Illumina [495821]	N
666	chr4	10727356	10727357	rs13142500	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	4p16.1	CLNK	rs13142500-C	0.49	3E-9		1.1	[1.07-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
666	chr4	10727356	10727357	rs13142500	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	4p16.1	CLNK	rs13142500-C	0.45	2E-6	(EA)	1.1	[1.06-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
669	chr4	11040289	11040290	rs2904297	25429627	Oryoji D	2014-11-27	J Clin Endocrinol Metab	Identification of a Hashimoto thyroiditis susceptibility locus via a genome-wide comparison with Graves' disease.	Hashimoto thyroiditis versus Graves' disease	263 Japanese ancestry Hashimoto thyroiditis cases, 260 Japanese ancestry Graves' disease cases	181 Japanese ancestry Hashimoto thyroiditis cases, 286 Japanese ancestry Graves' disease cases	4p16.1	intergenic	rs2904297-?	0.763	7E-6		1.72	[1.37-2.22]	Illumina [546173]	N
669	chr4	11115864	11115865	rs16878196	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	4p16.1	MIR572	rs16878196-T	0.052	7E-6	(HRTSE)	1.71	[0.97-2.45] unit decrease	Illumina [799713]	N
672	chr4	11469729	11469730	rs4916646	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	4p15.33	HS3ST1	rs4916646-?	NR	3E-7		2.125	[1.36-2.89] unit decrease	Illumina [498648]	N
672	chr4	11503603	11503604	rs1390096	22719876	Kawaguchi T	2012-06-14	PLoS One	Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.	Nonalcoholic fatty liver disease	529 Japanese ancestry cases, 932 Japanese ancestry controls	NA	4p15.33	HS3ST1	rs1390096-A	0.372	3E-6		1.44	[1.24-1.68]	Illumina [484751]	N
673	chr4	11630048	11630049	rs6448799	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	4p15.33	HS3ST1	rs6448799-T	0.3	7E-8		1.08	[1.05-1.11]	Illumina [7055881] (imputed)	N
674	chr4	11674660	11674661	rs7671189	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.33	intergenic	rs7671189-A	0.375	3E-6	(Folate )	0.03	[NR] nmol/L increase	Illumina [899892]	N
676	chr4	12026866	12026867	rs113991851	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4p15.33	NR	rs113991851-?	NR	1E-7	(Latino)	1.3931	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
677	chr4	12099334	12099335	rs1479279	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4p15.33	LOC644753, HSP90AB2P	rs1479279-G	0.016	2E-6		5.0	[2.42-10.33]	Illumina [1556551]	N
677	chr4	12111548	12111549	rs187075894	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	4p15.33	intergenic	rs187075894-C		8E-7		0.3145	unit increase	Illumina [5767231] (imputed)	N
677	chr4	12172668	12172669	rs6858365	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4p15.33	LOC644753, HSP90AB2P	rs6858365-A	0.015	9E-7		5.21	[2.51-10.82]	Illumina [1556551]	N
680	chr4	12498886	12498887	rs7665957	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.33	HSP90AB2P	rs7665957-A	0.0060	5E-7	(Sleep duration )	0.01	[NR] min/d increase	Illumina [899892]	N
680	chr4	12500220	12500221	rs62295889	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.33	RAB28	rs62295889-G	0.026	6E-6	(Urinary free epinephrine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
680	chr4	12579845	12579846	rs10002492	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p15.33	NR	rs10002492-G	0.167227182224207	8E-6	(IGP23)	0.1837	[0.1-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
682	chr4	12769231	12769232	rs11945798	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		4p15.33	intergenic	rs11945798-T	0.96	5E-6		0.175	[0.1-0.25] unit decrease	Illumina [~ 2400000] (imputed)	N
682	chr4	12773993	12773994	rs16887552	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (everolimus)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	4p15.33	intergenic	rs16887552-?	NR	8E-6		0.24	[NR] unit decrease	Affymetrix, Illumina [1348798]	N
683	chr4	12963573	12963574	rs763318	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4p15.33	RAB28	rs763318-A	0.468	8E-13		0.021	[0.015-0.027] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
684	chr4	13102350	13102351	rs13122273	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	4p15.33	intergenic	rs13122273-?	NR	9E-7	(C-reactive protein)			Affymetrix [2543887] (imputed)	N
685	chr4	13116761	13116762	rs491376	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	4p15.33	intergenic	rs491376-C	0.01	2E-6	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
685	chr4	13122534	13122535	rs573332	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	4p15.33	intergenic	rs573332-G	0.11	1E-6	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
686	chr4	13242796	13242797	rs733048	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	4p15.33	RAB28, BOD1L, NKX3-2, HSP90AB2P	rs733048-?	0.22	4E-6	(PD2)	1.95	[NR]	Illumina [~ 1400000] (imputed)	N
686	chr4	13242796	13242797	rs733048	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	4p15.33	RAB28, BOD1L, NKX3-2, HSP90AB2P	rs733048-?	0.22	1E-6	(PD1)	2.4	[NR]	Illumina [~ 1400000] (imputed)	N
690	chr4	13794415	13794416	rs10489087	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	4p15.33	intergenic	rs10489087-?	0.13	5E-6	(RBCC)			Affymetrix [70897]	N
691	chr4	13914372	13914373	rs10805321	21990027	Drago A	2011-10-11	Am J Med Genet B Neuropsychiatr Genet	The genetics of antipsychotic induced tremors: a genome-wide pathway analysis on the STEP-BD SCP sample.	Response to antipsychotic therapy (extrapyramidal side effects)	409 European and other ancestry bipolar cases	NA	4p15.33	NR	rs10805321-?	NR	9E-6		0.3944	[NR] unit increase	Affymetrix [NR]	N
692	chr4	14144207	14144208	rs6844339	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.33	LOC152742	rs6844339-G	0.328	6E-6	(RANTES )	0.03	[NR] pg/mL increase	Illumina [899892]	N
695	chr4	14438809	14438810	rs35333254	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	4p15.33	intergenic	rs35333254-?		5E-6	(PC3)	0.0652	[NR] unit increase	Illumina [4167292] (imputed)	N
698	chr4	14918967	14918968	rs17381785	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	4p15.33	CPEB2_AS1	rs17381785-C	0.31	8E-6		0.054	[0.030-0.078] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
699	chr4	14967168	14967169	rs1494950	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	4p15.33	NR	rs1494950-?		9E-6		0.3081	[0.17-0.44] unit decrease	Illumina [> 269840] (imputed)	N
702	chr4	15354384	15354385	rs114133078	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	4p15.32	C1QTNF7	rs114133078-?	NR	2E-7				Affymetrix [5486770] (imputed)	N
702	chr4	15397363	15397364	rs16891867	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	4p15.32	C1QTNF7	rs16891867-G	0.218	4E-6	(AA)	0.148	[NR] unit increase	Illumina [948658]	N
702	chr4	15397363	15397364	rs16891867	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	4p15.32	C1QTNF7	rs16891867-G	0.097	3E-9		0.15	[NR] unit increase	Illumina [948658]	N
702	chr4	15397905	15397906	rs1861046	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	4p15.32	C1QTNF7	rs1861046-A	0.095	6E-8		1.65	[1.38-1.98]	Illumina [948658]	N
703	chr4	15482359	15482360	rs1861050	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	4p15.32	KIAA1345	rs1861050-T	0.063	8E-6		1.63	[1.31-2.01]	Illumina [948658]	N
703	chr4	15545409	15545410	rs9918079	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.32	CC2D2A	rs9918079-A	0.115	6E-6	(LDL )	0.04	[NR] mg/dL increase	Illumina [899892]	N
705	chr4	15737100	15737101	rs11724635	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	4p15.32	BST1	rs11724635-A	0.553	9E-18		1.126	[1.1-1.15]	Illumina [7893274] (imputed)	N
705	chr4	15737100	15737101	rs11724635	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	4p15.32	BST1	rs11724635-A	0.56	1E-16		1.15	[1.11-1.19]	Illumina [7689524] (imputed)	N
705	chr4	15737347	15737348	rs4698412	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	4p15.32	BST1	rs4698412-?	NR	3E-7		1.14	[NR]	Illumina [2500000] (imputed)	N
705	chr4	15737347	15737348	rs4698412	21084426	Saad M	2010-11-17	Hum Mol Genet	Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.	Parkinson's disease	1,039 European ancestry cases, 1,984 European ancestry controls	3,232 European ancestry cases, 7,064 European ancestry controls	4p15.32	BST1	rs4698412-A	0.55	2E-6		1.14	[1.08-1.20]	Illumina [492929]	N
705	chr4	15737936	15737937	rs4538475	19915576	Satake W	2009-11-15	Nat Genet	Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.	Parkinson's disease	988 Japanese ancestry cases, 2,521 Japanese ancestry controls	933 Japanese ancestry cases, 15,753 Japanese ancestry controls	4p15.32	BST1	rs4538475-?	NR	3E-9		1.24	[1.16-1.34]	Illumina [435470]	N
705	chr4	15742128	15742129	rs3893377	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Current cigarettes per day in chronic obstructive pulmonary disease	1,113 European ancestry cases	NA	4p15.32	BST1	rs3893377-C	0.8	5E-6		0.289	unit increase	Illumina [~ 6300000] (imputed)	N
706	chr4	15964862	15964863	rs4698433	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QT interval	455 African American individuals	NA	4p15.32	FGFBP2	rs4698433-T		6E-6		7.23	[NR] ms increase	Illumina [> 930000]	N
707	chr4	15995124	15995125	rs17387100	24964207	Mullins N	2014-06-25	Am J Med Genet B Neuropsychiatr Genet	Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.	Suicide attempts in depression or bipolar disorder	426 European ancestry cases, 2,844 European ancestry controls	NA	4p15.32	PROM1	rs17387100-G	0.078	8E-7		1.76	[1.54-1.99]	Illumina [up to 503016]	N
707	chr4	16002287	16002288	rs17478107	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	4p15.32	PROM1	rs17478107-C	0.28	9E-6		0.02	[NR] unit decrease	Illumina [2380486] (imputed)	N
707	chr4	16018323	16018324	rs2531154	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	4p15.32	PROM1	rs2531154-?	NR	9E-7	(DMFS5max)			Illumina [518997]	N
707	chr4	16022539	16022540	rs2677780	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	4p15.32	NR	rs2677780-A	0.9356	2E-6		6.3471	[NR] unit decrease	Illumina [1200000] (imputed)	N
708	chr4	16167953	16167954	rs2271749	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	4p15.32	NR	rs2271749-?		3E-6	(females)			Illumina [1211988] (imputed)	N
710	chr4	16514407	16514408	rs955943	23585552	Kirin M	2013-04-11	Hum Mol Genet	Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.	Rhegmatogenous retinal detachment	867 European ancestry cases, 1,953 European ancestry controls	1,966 European ancestry cases, 5,918 European ancestry controls	4p15.32	LDB2	rs955943-A	0.067	5E-6		1.41	[1.21-1.64]	Illumina [299737]	N
713	chr4	16893892	16893893	rs1483012	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QT interval	455 African American individuals	NA	4p15.32	LDB2	rs1483012-G		7E-6		6.02	[NR] ms increase	Illumina [> 930000]	N
713	chr4	16908003	16908004	rs6819013	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QT interval	455 African American individuals	NA	4p15.32	intergenic	rs6819013-A		6E-6		6.06	[NR] ms increase	Illumina [> 930000]	N
715	chr4	17135342	17135343	rs4698169	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	4p15.32	intergenic	rs4698169-?	NR	2E-6	(Anxious)	2.11	[NR] unit increase	Affymetrix [703012]	N
716	chr4	17221232	17221233	rs12643440	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	4p15.32	LOC729006	rs12643440-C		5E-6		0.17	[-0.10-0.25] unit decrease	Affymetrix [~ 2500000] (imputed)	N
718	chr4	17435089	17435090	rs2518590	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	4p15.32	intergenic	rs2518590-?		8E-6				NR [~ 3000000] (imputed)	N
719	chr4	17682833	17682834	rs1008375	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	4p15.32	NR	rs1008375-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
720	chr4	17797965	17797966	rs7678436	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4p15.31	FAM184B, C4orf30	rs7678436-A	0.33	2E-40		0.085	[0.071-0.099] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
720	chr4	17797965	17797966	rs7678436	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	4p15.31	LCORL, NCAPG	rs7678436-A	0.26	8E-15		0.09	[0.07-0.11] cm decrease	Illumina [420885]	N
720	chr4	17815888	17815889	rs16895802	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4p15.31	NCAPG	rs16895802-C	0.88	2E-40		0.103	[0.087-0.119] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
721	chr4	17877486	17877487	rs13131350	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4p15.31	LCORL	rs13131350-A	0.74	1E-53		0.095	[0.081-0.109] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
721	chr4	17919810	17919811	rs925098	22021425	Carty CL	2011-10-21	Hum Mol Genet	Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).	Height	8,149 African American female individuals	Up to 20,809 African American and African ancestry individuals	4p15.31	LCORL	rs925098-G	0.35	3E-14		0.056	[0.036-0.076] unit increase	Affymetrix [855034]	N
721	chr4	17936633	17936634	rs7692995	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4p15.31	LCORL	rs7692995-T	0.848	1E-71		0.074	[0.066-0.082] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
721	chr4	17944839	17944840	rs16896068	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	4p15.31	LCORL	rs16896068-A	0.16	2E-13		0.07	[0.03-0.11] s.d. decrease (males)	Affymetrix [402951]	N
721	chr4	17946431	17946432	rs2724475	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4p15.31	LCORL	rs2724475-?	NR	2E-9	(Conditioned on rs6449353)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
721	chr4	17952207	17952208	rs6845078	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	4p15.31	LCORL	rs6845078-C	0.85	3E-22		1.38	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
722	chr4	17993409	17993410	rs724577	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	4p15.31	LCORL	rs724577-C	0.73	5E-11		0.042	[0.030-0.054] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
722	chr4	17993409	17993410	rs724577	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	4p15.31	LCORL	rs724577-A	0.31	1E-15		0.067	[0.051-0.083] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
722	chr4	18017729	18017730	rs6830062	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Height	11,536 European ancestry individuals	NA	4p15.31	LC0RL	rs6830062-T	0.84	8E-6		0.09	[0.04-0.14] SD increase	Illumina [559712] (imputed)	N
722	chr4	18017729	18017730	rs6830062	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	4p15.31	LCORL	rs6830062-?	0.23	5E-9		0.1	[0.07-0.13] s.d. increase	Illumina [229216]	N
722	chr4	18017729	18017730	rs6830062	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	4p15.31	LCORL, NCAPG	rs6830062-T	0.89	1E-10		6.3	[4.34-8.26] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
722	chr4	18024120	18024121	rs1380294	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	4p15.31	LCORL	rs1380294-T	0.15	3E-14		0.108	[0.081-0.135] unit decrease	Affymetrix, Illumina [2193675] (imputed)	N
722	chr4	18033487	18033488	rs6449353	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Birth length	28,459 European ancestry individuals	16,145 European ancestry individuals, 280 Moroccan ancestry individuals, 284 Surinamese ancestry individuals, 319 Turkish ancestry individuals, 651 Chinese ancestry individuals	4p15.31	LCORL	rs6449353-T	0.141	1E-6		0.065	[0.040-0.090] unit increase	Affymetrix, Illumina [2201971] (imputed)	N
722	chr4	18033487	18033488	rs6449353	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4p15.31	LCORL	rs6449353-T	0.85	7E-46		0.075	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
723	chr4	18128640	18128641	rs1503874	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	4p15.31	NR	rs1503874-A	0.372	4E-6		8.981	[NR] unit decrease	Illumina [527829]	N
728	chr4	18795329	18795330	rs4147045	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	4p15.31	LCORL, RPL21P46	rs4147045-?	0.08-0.12	1E-6	(Vegetable)	1.2	[1.11-1.3]	Affymetrix, Illumina [> 2700000] (imputed)	N
728	chr4	18866168	18866169	rs6845621	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)	64 Japanese ancestry cases, 27 Japanese ancestry controls	NA	4p15.31	LCORL	rs6845621-C	0.20	2E-6	(Allelic)	5.53	[2.61-11.7]	Illumina [555600]	N
730	chr4	19108883	19108884	rs207282	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4p15.31	NR	rs207282-T	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
732	chr4	19362992	19362993	rs62296447	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4p15.31	NR	rs62296447-T	NR	6E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
741	chr4	20495134	20495135	rs666088	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Echocardiographic traits	Up to 1,238 European ancestry individuals	NA	4p15.31	SLIT2	rs666088-?	NR	5E-6	(LVDD)			Affymetrix [70897]	N
742	chr4	20620682	20620683	rs1379659	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Echocardiographic traits	Up to 1,238 European ancestry individuals	NA	4p15.31	SLIT2	rs1379659-?	NR	1E-7	(LVDD)			Affymetrix [70897]	N
746	chr4	21206489	21206490	rs1023721	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p15.31	NR	rs1023721-T	0.941491348153093	1E-6	(IGP45)	0.312	[0.19-0.44] unit increase	Illumina [~ 2500000] (imputed)	N
746	chr4	21206489	21206490	rs1023721	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p15.31	NR	rs1023721-T	0.941465292386465	1E-6	(IGP5)	0.3141	[0.19-0.44] unit increase	Illumina [~ 2500000] (imputed)	N
747	chr4	21293436	21293437	rs141863958	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	4p15.31	KCNIP4	rs141863958-?	0.028	1E-6		3.32	[NR]	Illumina [3922209] (imputed)	N
748	chr4	21393615	21393616	rs1495509	26169577	Mosley JD	2015-07-14	Pharmacogenomics J	A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough.	Cough in response to angiotensin-converting enzyme inhibitor drugs	1,346 European ancestry ACE inhibitor-exposed cases, 178 African ancestry ACE inhibitor-exposed cases, 71 ACE inhibitor-exposed cases, 4,661 European ancestry ACE inhibitor-exposed controls, 701 African ancestry ACE inhibitor-exposed controls, 123 ACE inhibitor-exposed controls	867 European ancestry ACE inhibitor-exposed cases, 4,364 European ancestry ACE inhibitor-exposed controls	4p15.2	KCNIP4	rs1495509-C	NR	2E-9		1.23	[1.15-1.32]	Illumina [1931830] (imputed)	N
748	chr4	21455256	21455257	rs11942476	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p15.2	NR	rs11942476-C	0.855854377005348	6E-6	(IGP25)	0.2144	[0.12-0.31] unit decrease	Illumina [~ 2500000] (imputed)	N
748	chr4	21476989	21476990	rs358592	20877300	Perroud N	2010-09-28	Pharmacogenomics J	Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.	Suicidal ideation	706 European ancestry individuals	NA	4p15.2	KCNIP4	rs358592-?	0.70	3E-6	(Escitalopram)	2.56	[NR]	Illumina [539199]	N
749	chr4	21511382	21511383	rs16871289	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.2	KCNIP4	rs16871289-A	0.017	9E-6	(CRP )	0.03	[NR] ng/mL increase	Illumina [899892]	N
749	chr4	21571086	21571087	rs1604805	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.2	KCNIP4	rs1604805-G	0.058	9E-6	(NEFA )	0.02	[NR] mmol/L increase	Illumina [899892]	N
753	chr4	22021499	22021500	rs16872248	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.2	UM9(5), KCNIP4-IT1	rs16872248-A	0.047	6E-6	(Fat mass )	0.03	[NR] % increase	Illumina [899892]	N
753	chr4	22091383	22091384	rs6448119	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	4p15.2	KCNIP4, GPR125	rs6448119-?	NR	7E-6	(ACPA-positive RA vs ACPA-negative RA)			Illumina [1723056] (imputed)	N
759	chr4	22824020	22824021	rs3099557	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4p15.2	GBA3	rs3099557-A	0.85	2E-39	(X-11799)	0.148	[0.13-0.17] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
759	chr4	22923248	22923249	rs61792199	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	4p15.2	Mir_340, GBA3	rs61792199-G	0.15	9E-6		1.23	[NR]	Illumina [7659573] (imputed)	N
763	chr4	23423602	23423603	rs215411	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4p15.2	NR	rs215411-A	NR	7E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
763	chr4	23423602	23423603	rs215411	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	4p15.2	MIR548AJ2	rs215411-A	0.314	3E-8		1.064	[1.041-1.087]	Affymetrix, Illumina [9005918] (imputed)	N
764	chr4	23588461	23588462	rs1511453	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	4p15.2	PPARGC1A	rs1511453-A	0.08	5E-6	(EA-glucose response)	4.95	[2.83-7.07] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
769	chr4	24132552	24132553	rs11730701	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4p15.2	NR	rs11730701-G	NR	1E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
770	chr4	24375832	24375833	rs17650401	23918034	Kuhnisch J	2013-08-07	Clin Oral Investig	Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).	Molar-incisor hypomineralization	88 European ancestry cases, 580 European ancestry controls	NA	4p15.2	MIR573, PPARGC1A	rs17650401-T	0.077	2E-6		6.9	[3.10-15.37]	Affymetrix [2013491] (imputed)	N
772	chr4	24515630	24515631	rs7698250	24383474	Manichaikul A	2014-01-02	Am J Respir Crit Care Med	Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.	Pulmonary emphysema	2,587 European ancestry individuals, 2,510 African American individuals, 2,113 Hispanic individuals, 704 Chinese ancestry individuals	6,023 European ancestry individuals	4p15.2	DHX15	rs7698250-T	0.027	2E-10	(Chinese)	0.463	[0.32-0.61] unit increase	Affymetrix [897981]	N
772	chr4	24578096	24578097	rs6841898	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		4p15.2	DHX15	rs6841898-?	0.021	3E-26			[NR]	Affymetrix, Illumina [152234]	N
773	chr4	24740957	24740958	rs12500612	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	4p15.2	SOD3	rs12500612-G	0.85	7E-6	(partial response - 2 weeks)	1.7665	[1.51-2.02]	Affymetrix, Illumina [1200000] (imputed)	N
774	chr4	24778279	24778280	rs78792420	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	4p15.2	NR	rs78792420-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
775	chr4	24949219	24949220	rs6448317	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	4p15.2	CCDC149	rs6448317-T	0.19	4E-6	(Right HG thickness)	0.0583	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
778	chr4	25403265	25403266	rs16877106	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Weight	1,780 Filipino ancestry females	NA	4p15.2	ANAPC4	rs16877106-C	0.96	1E-6		5.42	[3.22-7.62] kg increase	Affymetrix [2073674] (imputed)	N
778	chr4	25417243	25417244	rs3816587	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	4p15.2	NR	rs3816587-C	0.41	9E-6		1.09	[0.96-1.25]	Affymetrix [469557]	N
781	chr4	25810095	25810096	rs959903	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	4p15.2	23231	rs959903-A	0.29	7E-6	(Ballon TT)	3.81	[NR] unit increase	Illumina [324623]	N
782	chr4	25942750	25942751	rs7654585	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.2	C4orf52	rs7654585-A	0.374	2E-7	(WC change )	0.04	[NR] cm/y increase	Illumina [899892]	N
783	chr4	26062989	26062990	rs10019888	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	4p15.2	C4orf52	rs10019888-G	0.18	5E-8		0.027	[NR] unit decrease	NR [NR] (imputed)	N
784	chr4	26085510	26085511	rs10517086	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	4p15.2	intergenic	rs10517086-A	0.30	5E-10		1.09	[1.02-1.17]	Affymetrix, Illumina [841622] (imputed)	N
784	chr4	26098809	26098810	rs6448432	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	4p15.2	RBPJ	rs6448432-?		4E-7		1.19	[1.11-1.28]	Affymetrix, Illumina [1831729] (imputed)	N
784	chr4	26108196	26108197	rs874040	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	4p15.2	RBPJ	rs874040-C	0.30	1E-16		1.14	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
784	chr4	26120000	26120001	rs11933540	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	4p15.2	C4orf52	rs11933540-C	0.31	1E-16	(EA)	1.15	[1.11-1.19]	Affymetrix, Illumina [up to 9739303] (imputed)	N
784	chr4	26132360	26132361	rs4692386	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	4p15.2	NR	rs4692386-G	0.59	1E-8	(EA)	1.0596887		Affymetrix, Illumina [~ 9000000] (imputed)	N
784	chr4	26132360	26132361	rs4692386	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	4p15.2	intergenic	rs4692386-A	0.59	3E-7	(EA)	1.0656859		Affymetrix, Illumina [~ 9000000] (imputed)	N
784	chr4	26137018	26137019	rs907499	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.2	LOC645481	rs907499-G	0.016	4E-6	(Snack intake )	0.05	[NR] kcal increase	Illumina [899892]	N
787	chr4	26511288	26511289	rs12499371	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	4p15.2	CCKKR	rs12499371-A	0.44	7E-6	(Right superior frontal gyrus)	703.9	[NR] unit increase	Affymetrix [517946]	N
789	chr4	26783452	26783453	rs6825268	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4p15.2	NR	rs6825268-G	NR	4E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
790	chr4	26944313	26944314	rs6844153	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	4p15.2	STIM2	rs6844153-T	NR	6E-7	(DPA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
791	chr4	27000994	27000995	rs6822297	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.2	STIM2	rs6822297-G	0.405	8E-6	(Diet carbohydrate )	0.02	[NR] %energy increase	Illumina [899892]	N
791	chr4	27066037	27066038	rs11725593	25310821	Kim JH	2014-10-13	PLoS One	A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.	Hirschsprung disease	123 Korean ancestry cases, 432 Korean ancestry controls	NA	4p15.2	STIM2	rs11725593-?	NR	2E-6	(Conditioned on rs2435357, rs1800860, rs7078220 and rs16879552)			Illumina [757260]	N
792	chr4	27194070	27194071	rs13149020	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	4p15.2	NR	rs13149020-A	0.45	8E-6		10.69	[6.06-15.32] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
792	chr4	27212222	27212223	rs4574391	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	4p15.2	STIM2	rs4574391-C	0.25	8E-7	(Left superior frontal gyrus)	880.0	[NR] unit decrease	Affymetrix [517946]	N
792	chr4	27254627	27254628	rs1906528	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	4p15.2	FLJ45721	rs1906528-T	0.17	1E-6	(Right superior frontal gyrus)	966.3	[NR] unit decrease	Affymetrix [517946]	N
796	chr4	27744717	27744718	rs4692256	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	4p15.1	LOC391642	rs4692256-?	NR		<1 x 10<sup>-6</sup> (RHippocampus)			Illumina [530992]	N
798	chr4	27964404	27964405	rs11934750	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	4p15.1	AC007106.1	rs11934750-?	0.160	1E-7	(S-DCT/S-CT ratio, adjusted for CYP2C19)			Illumina [7537437] (imputed)	N
800	chr4	28250237	28250238	rs2309717	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	4p15.1	STIM2, PCDH7	rs2309717-A	0.089	1E-6	(EA, 25 years or older)	1.143	[1.083-1.206]	Affymetrix, Illumina [NR] (imputed)	N
804	chr4	28752053	28752054	rs1038903	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	4p15.1	PCDH7	rs1038903-T	0.73	2E-11		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
804	chr4	28832787	28832788	rs6833159	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Underweight status	953 Bangladeshi ancestry underweight females, 1,269 Bangladeshi ancestry normal weight females, 1,146 Bangladeshi ancestry underweight males, 1,106 normal weight males	NA	4p15.1	MIR4275, PCDH7	rs6833159-T	0.735	3E-7	(males)	0.087	[0.054-0.120] unit increase	Illumina [1208102] (imputed)	N
807	chr4	29170164	29170165	rs139214349	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4p15.1	NR	rs139214349-?	NR	6E-8	(AA)	1.3527	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
807	chr4	29170164	29170165	rs139214349	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4p15.1	NR	rs139214349-?	NR	1E-8	(AA)	1.2786	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
813	chr4	29903051	29903052	rs7442317	21473668	Fliers EA	2011-04-07	World J Biol Psychiatry	Genome-wide association study of motor coordination problems in ADHD identifies genes for brain and muscle function.	Attention deficit hyperactivity disorder motor coordination	890 European ancestry children	296 European ancestry children	4p15.1	intergenic	rs7442317-?	NR	4E-6				Perlegen [384401]	N
814	chr4	30068212	30068213	rs6818288	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p15.1	PCDH7	rs6818288-C	0.124	6E-6	(Energy balance )	0.04	[NR] kcal/d increase	Illumina [899892]	N
815	chr4	30258245	30258246	rs80205050	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4p15.1	NR	rs80205050-?	NR	6E-7	(EA)	0.7611	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
817	chr4	30468165	30468166	rs6856768	22832961	Kamboh MI	2012-05-15	Transl Psychiatry	Genome-wide association study of Alzheimer's disease.	Alzheimer's disease	1,291 European ancestry cases, 938 European ancestry controls	509 European ancestry cases, 753 European ancestry controls, 2,218 cases, 2,583 controls	4p15.1	intergenic	rs6856768-?	NR	5E-6		1.18	[NR]	Illumina [2543888] (imputed)	N
819	chr4	30704526	30704527	rs114326390	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4p15.1	intergenic	rs114326390-A	0.001	1E-6		33.95	[3.51-328.49]	Illumina [1556551]	N
822	chr4	31100498	31100499	rs2201945	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	4p15.1	PCDH7	rs2201945-?	NR	3E-6	(Delta power, Cz)	0.059	[0.034-0.084] unit increase	Illumina [527829]	N
822	chr4	31147873	31147874	rs1044352	25087078	Anney RJ	2014-07-30	Lancet Neurol	Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.	Epilepsy	405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls	NA	4p15.1	PCDH7	rs1044352-T	0.5	2E-7	(GGE)	1.14	[1.08-1.22]	Affymetrix, Illumina [NR] (imputed)	N
822	chr4	31151356	31151357	rs28498976	25087078	Anney RJ	2014-07-30	Lancet Neurol	Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.	Epilepsy	405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls	NA	4p15.1	PCDH7	rs28498976-A	0.46	5E-9	(All epilepsy)	1.11	[1.06-1.15]	Affymetrix, Illumina [NR] (imputed)	N
822	chr4	31156177	31156178	rs74879986	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	4p15.1	intergenic	rs74879986-G	0.975	6E-6		0.14	[0.079-0.201] unit decrease	Illumina [6150213] (imputed)	N
823	chr4	31290281	31290282	rs61793204	26114229	Ashley-Koch AE	2015-06-12	J Affect Disord	Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.	Post-traumatic stress disorder	949 non-Hispanic black individuals, 759 European ancestry individuals	NA	4p15.1	intergenic	rs61793204-?	NR	9E-6	EA	2.5	[NR]	Illumina [up to 5616481] (imputed)	N
824	chr4	31397617	31397618	rs6448771	22028671	Surakka I	2011-10-20	PLoS Genet	A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol.	Lipid traits	Up to 32,225 European ancestry individuals	11,509 European ancestry individuals, 11,163 individuals	4p15.1	PCDH7	rs6448771-?	NR	5E-9		0.028	[-0.00728-0.06328] unit increase	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
828	chr4	31949042	31949043	rs2177312	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	4p15.1	PCDH7	rs2177312-T	NR	5E-6		4.584	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
837	chr4	33079654	33079655	rs1448284	20197096	Stein JL	2010-03-01	Neuroimage	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.	Brain structure (temporal lobe volume)	173 European ancestry Alzheimer's disease cases, 361 European ancestry Mild Cognitive Impairment cases, 208 European ancestry controls	NA	4p15.1	intergenic	rs1448284-T	0.03	2E-6		9939.9	[NR] unit increase	Illumina [546314]	N
838	chr4	33203139	33203140	rs10517270	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	4p15.1	intergenic	rs10517270-?	NR	4E-6		3.3056	unit decrease	Illumina [2543888] (imputed)	N
841	chr4	33624701	33624702	rs10517287	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	4p15.1	intergenic	rs10517287-T	0.11	2E-7	(Citalopram+Bupropion, Vision/hearing-related side effects)			Affymetrix [421789]	N
848	chr4	34545345	34545346	rs16989979	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Cerebral amyloid angiopathy	1,673 cases, 1,134 controls	NA	4p15.1	intergenic	rs16989979-T	0.2408	2E-6		0.3325	[0.2-0.47] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
851	chr4	34893854	34893855	rs17390445	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	4p15.1	intergenic	rs17390445-?	NR	1E-7	(ziprasidone)	17.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
851	chr4	34925063	34925064	rs1317830	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in non-asthmatics	6,025 European ancestry children, 567 children,  6,334 European ancestry adult individuals, 2,050 adult individuals	NA	4p15.1	intergenic	rs1317830-G	0.32	3E-6	(Children)			Illumina [up to 527642]	N
853	chr4	35168879	35168880	rs67437545	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	4p15.1	ARAP2	rs67437545-A	0.82	4E-6	(Left HG area)	14.48	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
854	chr4	35372097	35372098	rs437943	18615156	Liu C	2008-07-10	Mol Med	Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.	Response to TNF antagonist treatment	89 European ancestry cases	NA	4p15.1	CENTD1	rs437943-G	0.33	4E-6				Illumina [283348]	N
855	chr4	35410630	35410631	rs1533317	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	4p15.1	intergenic	rs1533317-A	0.46	2E-6		0.14	[0.08-0.20] unit increase	Illumina [~ 318327]	N
856	chr4	35563785	35563786	rs6833641	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	4p15.1	ARAP2	rs6833641-G	0.852	2E-9		0.046	[0.031-0.062] unit increase	Illumina [7428049] (imputed)	N
859	chr4	35983110	35983111	rs6834483	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p14	CENTD1	rs6834483-G	0.017	6E-7	(Sedentary activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
859	chr4	35983110	35983111	rs6834483	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p14	CENTD1	rs6834483-G	0.017	6E-6	(Light activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
859	chr4	35983110	35983111	rs6834483	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p14	CENTD1	rs6834483-G	0.017	3E-6	(Sedentary activity )	0.03	[NR] min/d increase	Illumina [899892]	N
859	chr4	36026746	36026747	rs1567482	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil)	177 Japanese ancestry cases, 952 Japanese ancestry controls	NA	4p14	LOC651644	rs1567482-G	0.875	6E-6	(Allelic model)	2.846	[1.716-4.719]	Illumina [733202]	N
860	chr4	36079593	36079594	rs12651329	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	4p14	ARAP2	rs12651329-C	0.39	5E-7	(Joint)			Illumina [254145]	N
863	chr4	36441973	36441974	rs80127210	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4p14	NR	rs80127210-?	NR	3E-6	(Native Hawaiian)	0.94	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
867	chr4	37064330	37064331	rs13117816	20802204	Baranzini SE	2010-09-01	Brain	Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.	Multiple sclerosis--Brain Glutamate Levels	382 cases	NA	4p14	FLJ11017	rs13117816-?	NR	7E-6				Illumina [~ 500000]	N
868	chr4	37182645	37182646	rs7678296	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4p14	NR	rs7678296-?	NR	7E-6	(AA)	0.4535	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
872	chr4	37645388	37645389	rs4832928	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p14	NR	rs4832928-C	0.701397954120267	2E-6	(IGP49)	0.1627	[0.096-0.229] unit increase	Illumina [~ 2500000] (imputed)	N
872	chr4	37647233	37647234	rs13144232	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p14	NR	rs13144232-G	0.63805114610245	6E-7	(IGP9)	0.1638	[0.1-0.228] unit increase	Illumina [~ 2500000] (imputed)	N
872	chr4	37651154	37651155	rs2292298	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4p14	NR	rs2292298-G	0.360936488423865	4E-6	(IGP68)	0.1504	[0.086-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
872	chr4	37662531	37662532	rs6531565	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4p14	NR	rs6531565-?	NR	6E-7	(Native Hawaiian)	0.5136	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
874	chr4	37938517	37938518	rs10010758	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	4p14	TBC1D1, PTTG2	rs10010758-C	0.291	4E-6	(Red)	1.91	[1.45-2.51]	Affymetrix [~ 2500000] (imputed)	N
875	chr4	38013025	38013026	rs13132184	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	4p14	TBC1D1	rs13132184-A	0.83	4E-6	(VPWL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
876	chr4	38161063	38161064	rs115426111	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	4p14	NR	rs115426111-T	0.998	1E-6		1.519	[0.91-2.13] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
876	chr4	38161063	38161064	rs115426111	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	4p14	NR	rs115426111-T	0.998	7E-6		1.402	[0.79-2.01] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
877	chr4	38325035	38325036	rs6856616	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	4p14	NR	rs6856616-G	0.06662	1E-6	(EA)	1.0979221	[1.06-1.14]	Affymetrix, Illumina [~ 9000000] (imputed)	N
877	chr4	38325035	38325036	rs6856616	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	4p14	KLF3, TBC1D1	rs6856616-C	0.23	4E-14		1.43	[1.31-1.57]	Illumina [5664371] (imputed)	N
877	chr4	38335822	38335823	rs1487630	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	4p14	TBC1D1	rs1487630-T	NR	1E-11		1.33	[1.22-1.44]	Illumina [4929034] (imputed)	N
878	chr4	38465470	38465471	rs4615179	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p14	FLJ13197	rs4615179-A	0.098	8E-6	(Urinary free epinephrine )	0.02	[NR] nmol/d increase	Illumina [899892]	N
879	chr4	38654680	38654681	rs4833079	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4p14	FLJ13197	rs4833079-T	0.604	9E-6		0.013	[0.0075-0.0193] kg/m2 increase	Affymetrix, Illumina [2550021]	N
880	chr4	38784723	38784724	rs10004195	23652523	Mayerle J	2013-05-08	JAMA	Identification of genetic loci associated with Helicobacter pylori serologic status.	Helicobacter pylori serologic status	2,623 European ancestry high titer cases, 7,862 European ancestry low or no titer controls	NA	4p14	FAM114A1, TLR10, TLR1, TLR6, KLF3	rs10004195-A	0.75	1E-18		1.43	[1.32-1.54]	Affymetrix, Illumina [~ 2500000] (imputed)	N
880	chr4	38792523	38792524	rs4543123	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		4p14	intergenic	rs4543123-?	0.24	9E-6		0.08	[0.041-0.119] unit increase	Illumina [4058415] (imputed)	N
881	chr4	38798934	38798935	rs55731057	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		4p14	TLR1	rs55731057-?	0.25	3E-6		0.08	[0.041-0.119] unit decrease	Illumina [4058415] (imputed)	N
881	chr4	38799709	38799710	rs4833095	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	4p14	TLR1	rs4833095-T	0.74	5E-12		1.2	[1.14-1.26]	Illumina [up to 4972397] (imputed)	N
881	chr4	38811550	38811551	rs2101521	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	4p14	TLR10, TLR1, TLR6	rs2101521-A	0.2384	5E-21		0.1374	[0.11-0.17] unit decrease	Illumina [2400000] (imputed)	N
881	chr4	38812875	38812876	rs17616434	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	4p14	FAM114A1, MIR574, TLR10, TLR1, TLR6	rs17616434-T	0.78	5E-11		1.23	[1.18-1.29]	Affymetrix, Illumina [~ 2500000] (imputed)	N
883	chr4	39088340	39088341	rs35141484	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	4p14	KLHL5	rs35141484-?	NR	3E-7				Affymetrix [786195]	N
883	chr4	39124749	39124750	rs1061377	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	4p14	RP11-360F5.1	rs1061377-A	0.46	3E-6		0.16	[0.093-0.227] unit increase	Affymetrix [2366856] (imputed)	N
884	chr4	39286948	39286949	rs11096990	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	4p14	WDR19	rs11096990-T	0.342	6E-7	(3MSE)	2.0117	[1.23-2.79] unit decrease	Affymetrix [> 371951] (imputed)	N
886	chr4	39462029	39462030	rs181099388	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	4p14	NR	rs181099388-G	0.028	8E-6		2.84	[1.80-4.50]	Illumina [7261187] (imputed)	N
888	chr4	39785275	39785276	rs4263408	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	4p14	UBE2K	rs4263408-T	0.43	7E-6		0.09	[0.051-0.129] unit decrease	Illumina [2316178] (imputed)	N
891	chr4	40159616	40159617	rs7656730	22550155	Edelstein LC	2012-05-01	Circulation	Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress.	Platelet thrombus formation	125 European ancestry individuals, 116 African American individuals	NA	4p14	N4BP2	rs7656730-?	NR	1E-6	(AA)	0.025637	[0.015-0.036] unit increase	Illumina [at least 620901]	N
892	chr4	40303632	40303633	rs6832151	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	4p14	RHOH, CHRNA9	rs6832151-G	0.35	1E-13		1.24	[1.17-1.31]	Illumina [486049]	N
893	chr4	40381209	40381210	rs6447650	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index (change over time)	2,643 Bangladeshi ancestry females, 2,340 Bangladeshi ancestry males	NA	4p14	CHRNA9, RBM47	rs6447650-T	0.044	2E-7	(males)	0.416	[0.26-0.57] unit increase	Illumina [1208102] (imputed)	N
897	chr4	40973526	40973527	rs4466078	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	4p14	APBB2	rs4466078-?	NR	8E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
898	chr4	41056715	41056716	rs114070671	24143882	Gelernter J	2013-10-19	Biol Psychiatry	Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways.	Opioid sensitivity	1,383 European ancestry cases, 996 European ancestry controls, 683 African American cases, 2,635 African American controls	2,116 European ancestry individuals, 4,496 African American individuals	4p14	APBB2	rs114070671-?	0.08	1E-7	(AA)			Illumina [988306]	N
899	chr4	41284710	41284711	rs4861096	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	4p13	UCHL1	rs4861096-?	0.244	9E-6	(PAL6)			Illumina [475971]	N
901	chr4	41490454	41490455	rs7696430	25350695	Postmus I	2014-10-28	Nat Commun	Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.	Response to statins (LDL cholesterol change)	18,596 European ancestry individuals	23,279 European ancestry individuals	4p13	LIMCH1	rs7696430-A	0.157	8E-8		0.014	[0.0081-0.0199] unit increase	Affymetrix, Illumina, Perlegen [at least 2500000] (imputed)	N
902	chr4	41554363	41554364	rs10007810	25199915	Broer L	2014-09-08	J Gerontol A Biol Sci Med Sci	GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.	Longevity (90 years and older)	6,036 European ancestry cases, 3,757 European ancestry controls	NA	4p13	LIMCH1	rs10007810-A	0.23	9E-6		1.2	1.11-1.30	Affymetrix, Illumina [2500000] (imputed)	N
902	chr4	41639515	41639516	rs4345220	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	4p13	intergenic	rs4345220-?	0.56	2E-6		1.15	[1.09-1.2]	Affymetrix, Illumina [~ 2300000] (imputed)	N
908	chr4	42453252	42453253	rs10517025	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	4p13	ATP8A1	rs10517025-A		2E-7	(AA)			Illumina [NR]	N
912	chr4	42864695	42864696	rs6850606	25338677	Kariuki SN	2014-10-23	Genes Immun	Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.	Interferon alpha levels in systemic lupus erythematosus	88 European ancestry high interferon alpha cases, 322 European ancestry low interferon alpha cases	715 European ancestry cases, 450 African American cases	4p13	GRXCR1, ATP8A1	rs6850606-?	NR	2E-6	(EA)	1.5625	[1.20-2.00]	Illumina [291943]	N
913	chr4	43052185	43052186	rs9997524	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p13	GRXCR1	rs9997524-C	0.0050	7E-6	(Head circumference )	0.02	[NR] cm increase	Illumina [899892]	N
915	chr4	43320506	43320507	rs2006970	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	4p13	intergenic	rs2006970-C		9E-6		0.2674	unit decrease	Illumina [5767231] (imputed)	N
917	chr4	43537599	43537600	rs13130255	22216198	Athanasiadis G	2011-12-28	PLoS One	A genome-wide association study of the Protein C anticoagulant pathway.	Anticoagulant levels	397 European ancestry individuals from 21 families	NA	4p13	KCTD8	rs13130255-?	NR	3E-6	(funcPS)			Illumina [283437]	N
919	chr4	43851091	43851092	rs13146780	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	4p13	PGBD3P4, KCTD8	rs13146780-C	0.05	3E-6		1.23	[1.13-1.34]	NR [NR]	N
919	chr4	43890439	43890440	rs148386737	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4p13	NR	rs148386737-?	NR	2E-6	(Native Hawaiian)	1.2238	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
922	chr4	44212164	44212165	rs17641529	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	4p13	KCTD8	rs17641529-?	NR	9E-6	(SF7)			Affymetrix [5476100] (imputed)	N
925	chr4	44582486	44582487	rs10938353	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4p13	YIPF7	rs10938353-G	0.836	6E-6	(EA, women)	0.029	[0.016-0.042] kg/m2 increase	Affymetrix, Illumina [2550021]	N
929	chr4	45175690	45175691	rs13130484	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	4p12	GNPDA2	rs13130484-T	0.43	6E-9		0.05	[0.032-0.068] unit increase	Affymetrix, Illumina [557887] (imputed)	N
929	chr4	45175690	45175691	rs13130484	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	4p12	GNPDA2	rs13130484-T	0.43	4E-28	(Overweight)	1.08	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
929	chr4	45175690	45175691	rs13130484	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	4p12	GNPDA2	rs13130484-T	0.43	3E-18	(Obesity class II)	1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
929	chr4	45175803	45175804	rs16858082	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	4p12	GNPDA2	rs16858082-T	0.35	4E-9		0.0324	[0.022-0.043] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
929	chr4	45182526	45182527	rs10938397	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4p12	GNPDA2	rs10938397-G	0.436	2E-22	(EA, men)	0.04	[0.032-0.048] kg/m2 increase	Affymetrix, Illumina [2550021]	N
929	chr4	45182526	45182527	rs10938397	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4p12	GNPDA2	rs10938397-G	0.434	3E-38	(EA)	0.04	[0.034-0.046] kg/m2 increase	Affymetrix, Illumina [2550021]	N
929	chr4	45182526	45182527	rs10938397	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4p12	GNPDA2	rs10938397-G	0.432	3E-23	(EA, women)	0.04	[0.032-0.048] kg/m2 increase	Affymetrix, Illumina [2550021]	N
929	chr4	45182526	45182527	rs10938397	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4p12	GNPDA2	rs10938397-G	0.428	1E-40		0.04	[0.034-0.046] kg/m2 increase	Affymetrix, Illumina [2550021]	N
929	chr4	45182526	45182527	rs10938397	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	4p12	GNPDA2	rs10938397-A	0.57	4E-13		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
929	chr4	45182526	45182527	rs10938397	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	4p12	GNPDA2	rs10938397-G	0.43	3E-34	(Obesity class I)	1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
929	chr4	45182526	45182527	rs10938397	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	4p12	GNPDA2	rs10938397-G	0.43	2E-13		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
929	chr4	45182526	45182527	rs10938397	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	4p12	GNPDA2	rs10938397-G	0.43	4E-31		0.18	[0.14-0.22] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
929	chr4	45182526	45182527	rs10938397	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	4p12	GNPDA2	rs10938397-G	0.45	3E-16		0.19	[0.13-0.25] kg/m2 increase	Affymetrix, Illumina [2399588] (imputed)	N
929	chr4	45184441	45184442	rs348495	23583978	Monda KL	2013-04-14	Nat Genet	A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.	Body mass index	37,956 African American individuals, 1,188 Nigerian ancestry individuals	27,661 African America/Afro-Caribbean individuals, 4,607 Sub-Saharan African ancestry individuals, 123,706 European ancestry inidividuals	4p12	GNPDA2	rs348495-G	0.34	2E-10	(AA and Sub-Saharan)	0.051	[0.035-0.067] unit increase	Affymetrix, Illumina [3283202] (imputed)	N
931	chr4	45364913	45364914	rs10517133	21700879	Qi L	2011-06-23	Diabetes	Novel locus FER is associated with serum HMW adiponectin levels.	Adiponectin levels	1,591 European ancestry female individuals	626 European ancestry individuals from 235 families	4p12	AC108043.3-1	rs10517133-C	0.90	5E-6				Affymetrix [2543887] (imputed)	N
934	chr4	45867460	45867461	rs7674482	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	4p12	AC095058.3	rs7674482-?	NR	5E-6				Illumina [990115]	N
937	chr4	46240286	46240287	rs535066	25087078	Anney RJ	2014-07-30	Lancet Neurol	Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.	Epilepsy	405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls	NA	4p12	GABRA2	rs535066-G	0.4	2E-7	(All epilepsy)	1.1	[1.05-1.16]	Affymetrix, Illumina [NR] (imputed)	N
942	chr4	46823633	46823634	rs11726563	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	4p12	intergenic	rs11726563-?	0.84	8E-6		1.16	[1.09-1.23]	Affymetrix, Illumina [~ 2300000] (imputed)	N
943	chr4	46968049	46968050	rs2055942	23937595	Al Safar HS	2013-08-13	Ann Hum Genet	A genome-wide search for type 2 diabetes susceptibility genes in an extended Arab family.	Type 2 diabetes	66 Arab ancestry cases and 112 Arab ancestry controls from one extended family	116 Arab ancestry cases, 199 Arab ancestry controls	4p12	GABRA4, COX7B2	rs2055942-?	NR	1E-6				Illumina [443502]	N
946	chr4	47408708	47408709	rs6289	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4p12	GABRB1	rs6289-G	0.169	5E-6	(Weight change )	0.03	[NR] kg/y increase	Illumina [899892]	N
947	chr4	47551862	47551863	rs13106975	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	4p12	ATP10D	rs13106975-?	NR	2E-19	(levels)	0.0	[0.70-2.0] % increase	Illumina [NR] (imputed)	N
947	chr4	47563447	47563448	rs10938494	19798445	Hicks AA	2009-10-02	PLoS Genet	Genetic determinants of circulating sphingolipid concentrations in European populations.	Sphingolipid levels	4,110 European ancestry individuals	NA	4p12	ATP10D	rs10938494-A	0.23	8E-19	(GluCer)	0.06	[0.04-0.07] unit increase	Illumina [318237]	N
952	chr4	48220838	48220839	rs2664035	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	4p11	TEC	rs2664035-A	0.4	3E-8	(EA)	1.08	[1.05-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
952	chr4	48220838	48220839	rs2664035	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	4p11	TEC	rs2664035-A	0.37	1E-7		1.07	[1.04-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
953	chr4	48363244	48363245	rs7438704	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	4p11	NR	rs7438704-G	0.64	9E-7	(EA)	1.0524054		Affymetrix, Illumina [~ 9000000] (imputed)	N
953	chr4	48363244	48363245	rs7438704	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	4p11	NR	rs7438704-A	0.64	3E-11	(EA)	1.0875221		Affymetrix, Illumina [~ 9000000] (imputed)	N
953	chr4	48363982	48363983	rs6837335	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	4p11	TXK, TEC, SLC10A4	rs6837335-G	0.647	2E-8		1.086	[1.049-1.123]	Affymetrix, Illumina [1230000] (imputed)	N
954	chr4	48470295	48470296	rs13110633	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4p11	NR	rs13110633-C	NR	5E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
959	chr4	49062891	49062892	rs11725957	22095909	Lange CM	2011-11-16	Hepatology	Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	707 European ancestry cases	NA	4p11	CWH43	rs11725957-G	NR	8E-6		0.727	[0.41-1.05] ug/L increase	NR [NR]	N
992	chr4	53412128	53412129	rs346923	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	4q12	USP46	rs346923-A	0.13	2E-6	(triglycerides)	0.28	[0.17-0.39] mmol/L decrease	Illumina [316730]	N
995	chr4	53756999	53757000	rs2898681	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	4q12	SCFD2	rs2898681-G	NR	2E-6		0.173	[0.069-0.277] unit increase	Illumina [~ 2740000] (imputed)	N
995	chr4	53820154	53820155	rs13104971	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	4q12	SCFD2	rs13104971-G	0.13	1E-6		0.113	unit increase	Illumina [~ 6300000] (imputed)	N
999	chr4	54330866	54330867	rs2412488	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	4q12	FIP1L1, LNX1	rs2412488-A	0.29	9E-7	(H19-ICR)			Illumina [515966]	N
1000	chr4	54414695	54414696	rs6820391	25420145	Debette S	2014-11-24	Nat Genet	Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.	Cervical artery dissection	1,393 European ancestry cases, 14,416 European ancestry controls	659 European ancestry cases, 2,648 European ancestry controls	4q12	LNX1	rs6820391-A	0.29	2E-8		1.24	[1.15-1.34]	Illumina [472862]	N
1001	chr4	54541845	54541846	rs6822736	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	4q12	intergenic	rs6822736-C	0.6565	4E-6	(Complete)	0.3637	[0.21-0.52] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1002	chr4	54676967	54676968	rs725344	25411163	Maitland ML	2014-11-19	Clin Cancer Res	Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib.	Serum VEGFR2 concentration	736 Old Order Amish	NA	4q12	FIP1L1, PDGFRA, KIT, KDR	rs725344-T	0.12	5E-25		1.32	[NR] ng/mL decrease	Affymetrix [549310]	N
1003	chr4	54799244	54799245	rs871606	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	4q12	CHIC2	rs871606-T	0.85	1E-8	(Pulse Pressure)	0.429	[0.28-0.58] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1004	chr4	55011768	55011769	rs1364989	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	4q12	PDGFRA, GSX2	rs1364989-T	NR	5E-7	(Recessive)	3.41	[2.10-5.54]	Affymetrix, Illumina [1621689] (imputed)	N
1005	chr4	55087580	55087581	rs17084051	23401653	Guggenheim JA	2013-01-03	Mol Vis	A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor &#x003b1; gene as a quantitative trait locus for eye size in white Europeans.	Corneal curvature	2,023 European ancestry children	2,008 Chinese ancestry adult individuals, 2,281 Malay ancestry adult individuals, 2,142 Indian ancestry adult individuals, 929 Chinese ancestry children	4q12	PDGFRA	rs17084051-A	NR	5E-14		0.126	[0.093-0.159] unit decrease	Illumina [2543887] (imputed)	N
1005	chr4	55087580	55087581	rs17084051	22144915	Fan Q	2011-12-01	PLoS Genet	Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.	Corneal astigmatism	1,231 Chinese ancestry cases, 785 Chinese ancestry controls, 1,018 Malay ancestry cases, 1,220 Malay ancestry controls	825 Indian ancestry cases, 1,314 Indian ancestry controls, 760 Chinese ancestry child cases, 169 Chinese ancestry child controls, 397 Chinese ancestry trios	4q12	intergenic	rs17084051-A	0.23	2E-6		1.21	[1.13-1.29]	Illumina [460528]	N
1005	chr4	55092625	55092626	rs2114039	21665993	Han S	2011-06-10	Hum Mol Genet	Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.	Corneal curvature	2,008 Chinese ancestry inidividuals, 2,281 Malay ancestry individuals	2,142 Asian Indian ancestry individuals, 929 Chinese ancestry children	4q12	PDGFRA	rs2114039-C	0.30	1E-9		0.129	[0.07-0.19] unit decrease	Illumina [462291]	N
1005	chr4	55094466	55094467	rs1800813	24963161	Chen P	2014-06-24	Hum Mol Genet	CMPK1 and RBP3 are associated with corneal curvature in Asian populations.	Corneal curvature	3,178 Chinese ancestry individuals, 2,138 Malay ancestry individuals, 2,124 Asian Indian ancestry individuals	2,473 Chinese ancestry individuals, 2,747 Japanese ancestry individuals	4q12	PDGFRA	rs1800813-G	0.77	8E-9		0.1	[0.061-0.139] unit increase	Illumina [~ 7000000] (imputed)	N
1005	chr4	55124459	55124460	rs7677751	22144915	Fan Q	2011-12-01	PLoS Genet	Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.	Corneal astigmatism	1,231 Chinese ancestry cases, 785 Chinese ancestry controls, 1,018 Malay ancestry cases, 1,220 Malay ancestry controls	825 Indian ancestry cases, 1,314 Indian ancestry controls, 760 Chinese ancestry child cases, 169 Chinese ancestry child controls, 397 Chinese ancestry trios	4q12	PDGFRA	rs7677751-T	0.22	8E-9		1.26	[1.18-1.34]	Illumina [460528]	N
1006	chr4	55234824	55234825	rs17690232	18193045	Sanna S	2008-01-13	Nat Genet	Common variants in the GDF5-UQCC region are associated with variation in human height.	Height	1,084 European ancestry cases, 1,287 European ancestry controls, 4,298 European individuals	23,684 European ancestry individuals, 3,860 African American individuals	4q12	PDGFRA	rs17690232-C	0.80	4E-7		0.86	[NR] cm increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1006	chr4	55241580	55241581	rs9312648	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	4q12	intergenic	rs9312648-?	NR	6E-6	(SF6)			Affymetrix [5476100] (imputed)	N
1007	chr4	55394171	55394172	rs218237	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Red blood cell count	14,392 Japanese ancestry individuals	NA	4q12	PDGFRA, HK1	rs218237-T	0.27	2E-17		0.111	[0.086-0.136] unit decrease	Illumina [561583]	N
1007	chr4	55394171	55394172	rs218237	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	4q12	PDGFRA, HK1	rs218237-T	0.27	2E-29		0.147	[0.12-0.17] unit increase	Illumina [561583]	N
1007	chr4	55394171	55394172	rs218237	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	4q12	PDGFRA, HK1	rs218237-T	0.27	3E-25		0.136	[0.11-0.16] unit increase	Illumina [561583]	N
1007	chr4	55395023	55395024	rs218238	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	4q12	KIT	rs218238-A	0.78	3E-39	(EA, RBCC)	0.033	[0.027-0.039] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1007	chr4	55407761	55407762	rs172629	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	4q12	KIT	rs172629-C	0.74	1E-27		0.698	[0.573-0.824] unit decrease	Illumina [561583]	N
1007	chr4	55407761	55407762	rs172629	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	4q12	KIT	rs172629-G	NR	1E-15		0.0	[0.003-0.006] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1007	chr4	55411590	55411591	rs218271	25475840	Colodro-Conde L	2014-12-05	Twin Res Hum Genet	A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan.	Breastfeeding duration	1,521 mothers from 1,073 families	NA	4q12	KIT	rs218271-?	NR	9E-6		0.238	[0.13-0.34] unit decrease	Illumina [6590000] (imputed)	N
1008	chr4	55482817	55482818	rs2537859	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	4q12	KIT	rs2537859-T	0.60	4E-6		1.16	[1.09-1.24]	Affymetrix, Illumina [2366197] (imputed)	N
1008	chr4	55535377	55535378	rs11345859	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	4q12	KIT	rs11345859-A	NR	5E-7		1.2987013	[NR]	Illumina [up to 9792010] (imputed)	N
1014	chr4	56298193	56298194	rs6832769	18957941	Terracciano A	2008-11-24	Mol Psychiatry	Genome-wide association scan for five major dimensions of personality.	Personality dimensions	3,972 Sardinian individuals	3,903 individuals	4q12	CLOCK	rs6832769-A	0.73	2E-6	(agreeableness)	0.14	[NR] s.d. decrease	Affymetrix [362129]	N
1015	chr4	56399647	56399648	rs13113518	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4q12	CLOCK	rs13113518-T	0.636	8E-9		0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1015	chr4	56467213	56467214	rs13434995	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	4q12	NR	rs13434995-G	NR	9E-6		0.023	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1015	chr4	56482749	56482750	rs3805389	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q12	NMU	rs3805389-A	0.2784	5E-8	(EA, women)	0.0272	[0.017-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1015	chr4	56482749	56482750	rs3805389	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q12	NMU	rs3805389-A	0.2743	2E-7	(women)	0.0254	[0.016-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1017	chr4	56668430	56668431	rs753129	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis in Alzheimer's disease	1,039 European ancestry cases with psychosis, 610 European ancestry cases without psychosis, 260 European, African American and Native American ancestry cases with psychosis and 125 European, African American and Native American ancestry cases without psychosis from 264 families	NA	4q12	AC110611.1	rs753129-?	0.76	3E-7		1.5151515	[NR]	Illumina [1882172] (imputed)	N
1017	chr4	56751739	56751740	rs13117307	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	4q12	EXOC1	rs13117307-T	0.10	3E-10	(Matched)	1.28	[1.19-1.38]	Affymetrix [563339]	N
1020	chr4	57127847	57127848	rs6554340	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	4q12	NR	rs6554340-?	NR	2E-6		1.476	[0.89-2.06] unit decrease	Illumina [498648]	N
1022	chr4	57334111	57334112	rs12505749	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	4q12	SRP72	rs12505749-?	0.08	5E-6	(All)	1.27		Affymetrix, Illumina [up to 2500000] (imputed)	N
1025	chr4	57687303	57687304	rs781542	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	4q12	SPINK2	rs781542-A	0.32	1E-6	(cohort study)	1.35	[1.20-1.53]	Affymetrix, Illumina [up to 2600000] (imputed)	N
1025	chr4	57786449	57786450	rs1713985	21909106	Arakawa S	2011-09-11	Nat Genet	Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.	Age-related macular degeneration	827 Japanese ancestry cases, 3,323 Japanese ancestry controls	709 Japanese ancestry cases, 15,571 Japanese ancestry controls	4q12	C4orf14, REST, IGFBP7, POLR2B	rs1713985-G	0.29	2E-8		1.3	[1.19-1.42]	Illumina [457489]	N
1025	chr4	57798188	57798189	rs2227901	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4q12	POLR2B, REST	rs2227901-A	0.39	3E-9		0.025	[0.013-0.037] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1026	chr4	57821308	57821309	rs708547	21106707	Gu J	2010-11-24	Hum Mol Genet	A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity.	Response to bleomycin (chromatid breaks)	673 European ancestry individuals	834 European ancestry individuals	4q12	C4orf14, REST	rs708547-A	0.24	9E-7		0.18	[0.11-0.24] unit decrease	Illumina [539437]	N
1026	chr4	57823475	57823476	rs17081935	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4q12	C4orf14	rs17081935-T	0.195	7E-17		0.031	[0.023-0.039] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1026	chr4	57823475	57823476	rs17081935	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4q12	POLR2B	rs17081935-T	0.2	4E-11		0.03	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1026	chr4	57857187	57857188	rs3733309	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4q12	POLR2B	rs3733309-A	0.59	2E-8		0.021	[0.0092-0.0328] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1027	chr4	57939862	57939863	rs10049992	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q12	NR	rs10049992-G	0.201848923285199	8E-6	(IGP73)	0.2007	[0.11-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
1028	chr4	58148385	58148386	rs6832720	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	4q12	OC255130	rs6832720-A	NR	7E-9		0.0585	[NR] unit decrease	Illumina [11892802] (imputed)	N
1030	chr4	58380321	58380322	rs11133504	25082827	Julia A	2014-07-31	Hum Mol Genet	A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.	Ulcerative colitis	up to 7,483 European ancestry cases, up to 21,211 European ancestry controls	1,073 European ancestry cases, 1,279 European ancestry controls	4q12	intergenic	rs11133504-?	0.86	1E-7	(Southern European)	1.33	[1.14-1.59]	Illumina [546271]	N
1031	chr4	58464352	58464353	rs7693389	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q12	LOC255130, SRIL	rs7693389-G	0.084	7E-6		2.66	[1.71-4.14]	Illumina [1556551]	N
1035	chr4	59008411	59008412	rs10517437	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	4q12	intergenic	rs10517437-?	NR	4E-6	(Delayed Story Recall)			Illumina [up to 563855]	N
1036	chr4	59213844	59213845	rs17218161	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	4q12	intergenic	rs17218161-?	NR	2E-8				Affymetrix [786195]	N
1037	chr4	59305131	59305132	rs1869463	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	4q12	intergenic	rs1869463-A	NR	9E-6		0.0331	[0.019-0.048] mm decrease	Illumina [1704858] (imputed)	N
1038	chr4	59503725	59503726	rs282708	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	4q13.1	intergenic	rs282708-A	0.41	8E-6		1.23	[1.12-1.35 ]	Affymetrix [355750]	N
1038	chr4	59503725	59503726	rs282708	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	4q13.1	intergenic	rs282708-A	0.4	5E-6	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
1040	chr4	59668828	59668829	rs115650236	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	4q13.1	NR	rs115650236-G	0.026	5E-6		5.11	[2.54-10.26]	Illumina [7261187] (imputed)	N
1041	chr4	59867902	59867903	rs13103557	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	4q13.1	RP11-340A13.2	rs13103557-?	NR	5E-6	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1048	chr4	60748828	60748829	rs10517480	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	4q13.1	intergenic	rs10517480-?	0.31	2E-7	(PC)			Affymetrix [187454]	N
1057	chr4	61966272	61966273	rs4599440	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	4q13.1	LPHN3	rs4599440-A	0.23	2E-6	(HDL cholesterol)	0.2	[0.12-0.28] mmol/L increase	Illumina [316730]	N
1061	chr4	62437317	62437318	rs6856328	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	4q13.1	LPHN3	rs6856328-?	0.07	8E-7	(quetiapine)			Affymetrix [492900]	N
1061	chr4	62453208	62453209	rs2172802	20522523	Kasperaviciute D	2010-06-03	Brain	Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.	Partial epilepsies	Up to 3,445 European ancestry cases, 6,935 European ancestry controls	NA	4q13.1	LPHN3	rs2172802-?	NR	3E-6				Illumina [528745]	N
1068	chr4	63342269	63342270	rs6819266	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	4q13.1	intergenic	rs6819266-?	0.62	8E-6		1.15	[1.09-1.22]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1068	chr4	63424088	63424089	rs11944965	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)	176 Japanese ancestry cases, 471 Japanese ancestry controls	NA	4q13.1	LOC644534	rs11944965-T	0.678	2E-6	(Dominant model)	1.986	[1.475-2.676]	Illumina [733202]	N
1072	chr4	63893277	63893278	rs145379083	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	4q13.1	intergenic	rs145379083-G	0.51	3E-6		0.037	[0.021-0.053] unit decrease	Illumina [6150213] (imputed)	N
1075	chr4	64313982	64313983	rs1913633	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	4q13.1	NR	rs1913633-A	NR	4E-6	(phenotype 2)	3.84	[NR]	Illumina [> 8000000] (imputed)	N
1080	chr4	64903605	64903606	rs28447044	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	4q13.1	TECRL	rs28447044-?	NR	5E-6		0.57	unit increase	NR [at least 1978803] (imputed)	N
1081	chr4	65067403	65067404	rs75518195	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	4q13.1	TECRL	rs75518195-?	NR	3E-6		0.58	unit increase	NR [at least 1978803] (imputed)	N
1082	chr4	65170414	65170415	rs7656244	22446961	Lee YC	2012-03-25	Nat Genet	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.	Kawasaki disease	622 Han Chinese ancestry cases, 1,107 Han Chinese ancestry controls	261 Han Chinese ancestry cases, 550 Han Chinese ancestry controls	4q13.1	SRD5A2L2	rs7656244-A	0.270	3E-7		1.394	[1.225-1.587]	Affymetrix [716935]	N
1082	chr4	65222241	65222242	rs7698280	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q13.1	NR	rs7698280-?	NR	5E-6	(AA)	0.3344	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1082	chr4	65273839	65273840	rs6836944	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	4q13.1	SRD5A2L2	rs6836944-T	0.0072	3E-6		0.8601	[0.5-1.22] unit increase	Illumina [2500000] (imputed)	N
1083	chr4	65392211	65392212	rs1425392	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	4q13.1	TECRL	rs1425392-?	NR	7E-6	(Trauma exposed controls; EA)			Illumina [up to 871502]	N
1092	chr4	66470812	66470813	rs4404602	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	4q13.2	EPHA5	rs4404602-?	NR	1E-6				Illumina [990115]	N
1096	chr4	67073142	67073143	rs1115363	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	4q13.2	LOC100144602	rs1115363-A	NR	7E-9		0.0974	[NR] unit increase	Illumina [11892802] (imputed)	N
1096	chr4	67087488	67087489	rs7654157	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	4q13.2	intergenic	rs7654157-?	NR	5E-6		2.35	[1.63-3.38]	Illumina [4196861] (imputed)	N
1098	chr4	67300801	67300802	rs2009314	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q13.2	LOC728048	rs2009314-G	0.296	5E-6	(Dinner intake )	0.03	[NR] kcal increase	Illumina [899892]	N
1098	chr4	67301041	67301042	rs1949200	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep quality	2,315 European ancestry individuals	NA	4q13.2	RP11-793B9.1	rs1949200-T	0.13	9E-6		0.18	[0.10-0.26] unit increase	Illumina [2380486] (imputed)	N
1098	chr4	67357453	67357454	rs17730929	23300701	Jiao S	2012-12-26	PLoS One	Genome-wide search for gene-gene interactions in colorectal cancer.	Colorectal cancer	8,380 European ancestry cases, 10,558 European ancestry controls	2,527 European ancestry cases, 2,628 European ancestry controls	4q13.2	intergenic	rs17730929-?	0.90	3E-6	(rs7136702, known)	1.47	[1.25-1.72]	Illumina [2011668]	N
1100	chr4	67614568	67614569	rs4860223	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	4q13.2	intergenic	rs4860223-?		1E-6				NR [~ 3000000] (imputed)	N
1101	chr4	67733856	67733857	rs1155865	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	4q13.2	intergenic	rs1155865-?	NR	2E-6	(Nam)			Affymetrix [70897]	N
1101	chr4	67733902	67733903	rs1155866	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	4q13.2	EPHA5, CENPC1	rs1155866-G	0.55	2E-6	(Men)	0.013509792	[0.0079-0.0191] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1104	chr4	68056612	68056613	rs7690543	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	4q13.2	intergenic	rs7690543-?		2E-6	(SI)	0.28	[0.1-0.46] unit increase	Illumina [693128]	N
1104	chr4	68064439	68064440	rs10518025	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	4q13.2	CENPC1	rs10518025-?	0.14	4E-6			[NR]	Illumina [551642]	N
1107	chr4	68447248	68447249	rs2242330	17052657	Fung HC	2006-09-28	Lancet Neurol	Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.	Parkinson's disease	267 European ancestry cases, 270 European ancestry controls	NA	4q13.2	BRDG1	rs2242330-?	NR	2E-6		2.0	[1.43-2.50]	Illumina [408803]	N
1112	chr4	69167670	69167671	rs939207	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q13.2	YTHDC1	rs939207-A	0.142	3E-6	(Hip circumference change )	0.03	[NR] cm/y increase	Illumina [899892]	N
1115	chr4	69591781	69591782	rs293428	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	4q13.2	UGT2B15	rs293428-A	0.69	6E-6	(Men + Women)	0.019	[0.011-0.027] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1115	chr4	69591781	69591782	rs293428	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	4q13.2	UGT2B15	rs293428-A	0.69	3E-8	(Men)	0.029	[0.019-0.039] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1116	chr4	69682470	69682471	rs294777	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	4q13.2	UGT2B10	rs294777-A	NR	6E-48		0.1905	[NR] unit increase	Illumina [11892802] (imputed)	N
1118	chr4	69962374	69962375	rs61361928	25935875	Varenhorst C	2015-05-02	Eur Heart J	Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.	AR-C124910XX levels in individuals with acute coronary syndromes treated with ticagrelor	1,794 European ancestry cases, 18 African and Asian ancestry cases	1,922 European ancestry cases, 19 African and Asian ancestry cases	4q13.2	UGT2B7	rs61361928-T	0.005	8E-14		0.385	[0.29-0.48] unit increase	Illumina [10962468] (imputed)	N
1118	chr4	69972462	69972463	rs4356975	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q13.2	UGT2B7	rs4356975-A	0.295	2E-7	(Gestational age )	0.07	[NR] wk increase	Illumina [899892]	N
1128	chr4	71183978	71183979	rs17714883	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	4q13.3	NR	rs17714883-?		1E-7	(PCB189)	1.46	[0.93-1.99] unit increase	Illumina [8736858] (imputed)	N
1129	chr4	71329489	71329490	rs1109501	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (heaviness of drinking)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	4q13.3	intergenic	rs1109501-G	0.24	5E-6		0.1	[NR] unit increase	Illumina [~ 300000]	N
1134	chr4	72028544	72028545	rs7685921	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	4q13.3	SLC4A4	rs7685921-G	0.13	9E-7	(EA)	0.116	[0.069-0.163] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
1134	chr4	72028544	72028545	rs7685921	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	4q13.3	SLC4A4	rs7685921-G	0.13	9E-7		0.116	[0.069-0.163] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
1135	chr4	72126888	72126889	rs2579330	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	4q13.3	NR	rs2579330-C	0.38	1E-6		1.36	[0.81-1.91] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1135	chr4	72138215	72138216	rs2363719	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	4q13.3	SLC4A4	rs2363719-A	0.108	8E-10		0.97	[0.66-1.28] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1136	chr4	72316966	72316967	rs148635969	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	4q13.3	SLC4A4	rs148635969-A	NR	8E-6	(Fixed effect)	0.27	[0.15-0.39] unit increase	Illumina [4736131] (imputed)	N
1138	chr4	72604298	72604299	rs222054	23213074	Adams LA	2012-12-05	Hepatology	Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	126 European ancestry adolescent cases, 802 European ancestry adolescent controls	NA	4q13.3	GC	rs222054-C	0.301	1E-6		2.54	[0.17-4.91]	Illumina [2078805] (imputed)	N
1138	chr4	72605516	72605517	rs17467825	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	4q13.3	GC	rs17467825-A	0.70	4E-9	(Age 6)	1.07	[1.05-1.09] unit increase	Illumina [2461244] (imputed)	N
1138	chr4	72608114	72608115	rs705117	24740207	Moy KA	2014-04-16	Am J Clin Nutr	Genome-wide association study of circulating vitamin D-binding protein.	Serum vitamin D-binding protein levels	1,380 European ancestry males	NA	4q13.3	GC	rs705117-G	0.13	5E-91		2026.78	[1829.00-2224.56] nmol/L decrease	Illumina [591610]	N
1138	chr4	72608382	72608383	rs2282679	22673963	Lasky-Su J	2012-06-07	Hum Genet	Genome-wide association analysis of circulating vitamin D levels in children with asthma.	Vitamin D levels	422 European ancestry trios with asthmatic children, 150 European ancestry asthmatic child cases	1,108 Hispanic asthmatic child cases	4q13.3	GC	rs2282679-?	0.29	2E-14				Illumina [547645]	N
1138	chr4	72608382	72608383	rs2282679	20541252	Wang TJ	2010-06-09	Lancet	Common genetic determinants of vitamin D insufficiency: a genome-wide association study.	Vitamin D insufficiency	16,125 European ancestry individuals	17,871 European ancestry individuals	4q13.3	GC	rs2282679-?	0.29	2E-109				Affymetrix, Illumina [up to 2548976] (imputed)	N
1138	chr4	72608382	72608383	rs2282679	20418485	Ahn J	2010-04-23	Hum Mol Genet	Genome-wide association study of circulating vitamin D levels.	Vitamin D levels	4,501 European ancestry individuals	2,221 European ancestry individuals	4q13.3	GC	rs2282679-C	0.26	2E-49		0.38	[0.32-0.44] unit decrease	Affymetrix, Illumina [593253] (imputed)	N
1139	chr4	72618333	72618334	rs7041	24740207	Moy KA	2014-04-16	Am J Clin Nutr	Genome-wide association study of circulating vitamin D-binding protein.	Serum vitamin D-binding protein levels	1,380 European ancestry males	NA	4q13.3	GC	rs7041-T	0.35	1E-246		2109.34	[1985.17-2233.51] nmol/L decrease	Illumina [591610]	N
1139	chr4	72643487	72643488	rs1155563	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	4q13.3	GC	rs1155563-C	0.28	4E-9	(Age 14)	0.94	[0.92-0.96] unit increase	Illumina [2461244] (imputed)	N
1139	chr4	72707820	72707821	rs1851024	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	4q13.3	GC	rs1851024-?	0.05	1E-14				Illumina [~ 2000000] (imputed)	N
1144	chr4	73322564	73322565	rs115136538	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	4q13.3	ALB	rs115136538-?	NR	5E-18	(Albumin)	0.51	[0.39-0.63] unit decrease	Illumina [~ 7700000] (imputed)	N
1145	chr4	73417523	73417524	rs1383934	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	4q13.3	ADAMTS3	rs1383934-?	NR	3E-7				Affymetrix, Illumina [~ 1400000] (imputed)	N
1145	chr4	73417523	73417524	rs1383934	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	4q13.3	ADAMTS3	rs1383934-?	NR	2E-6	(Comparatively Older)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1145	chr4	73476013	73476014	rs9993613	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4q13.3	ADAMTS3	rs9993613-T	0.473	5E-24		0.03	[0.024-0.036] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1145	chr4	73500066	73500067	rs189962344	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4q13.3	NR	rs189962344-?	NR	2E-6	(EA)	0.9147	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1145	chr4	73515312	73515313	rs7697556	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4q13.3	ADAMTS3	rs7697556-T	0.47	2E-14		0.028	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1145	chr4	73515824	73515825	rs16848425	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4q13.3	ADAMTS3	rs16848425-T	0.2	7E-12		0.034	[0.02-0.048] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1146	chr4	73645350	73645351	rs12507628	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	4q13.3	ADAMTS3	rs12507628-?	0.18	3E-9				Illumina [~ 2000000] (imputed)	N
1147	chr4	73783403	73783404	rs6816344	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	4q13.3	COX18, ADAMTS3	rs6816344-?	0.49	1E-6		1.7	[1.37-2.12]	Affymetrix [832357]	N
1148	chr4	73855252	73855253	rs10009409	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	4q13.3	COX18	rs10009409-T	0.32	2E-10	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1148	chr4	73855252	73855253	rs10009409	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	4q13.3	COX18	rs10009409-T	0.32	2E-10		1.08	[1.05-1.10]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1149	chr4	73970463	73970464	rs6818964	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	4q13.3	ANKRD17	rs6818964-T	0.022	7E-7		5.63	[NR] unit increase	Illumina [1216189] (imputed)	N
1152	chr4	74319282	74319283	rs12506899	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	4q13.3	AFP	rs12506899-G	0.32	3E-18	(AFP)	0.065	[0.032-0.098] ng/ml decrease	Affymetrix, Illumina [NR] (imputed)	N
1152	chr4	74349157	74349158	rs1894292	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	4q13.3	COX18, AFM, RASSF6, ALB, AFP, ANKRD17, LOC72804, LOC728040	rs1894292-G	0.52	5E-13		1.1	[1.06-1.12]	Illumina [~ 2600000] (imputed)	N
1155	chr4	74743690	74743691	rs2115691	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	4q13.3	CXCL1	rs2115691-?		4E-6	(EA, case-control analysis)	1.49	[NR]	Affymetrix [up to 730090]	N
1156	chr4	74856534	74856535	rs2457996	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q13.3	NR	rs2457996-A	0.89	4E-7	(EA)	1.1094414		Affymetrix, Illumina [~ 9000000] (imputed)	N
1156	chr4	74857707	74857708	rs2472649	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	4q13.3	CXCL3, IL8, CXCL6, PF4V1, CXCL5, PF4, CXCL2, CXCL1	rs2472649-G	0.824	3E-8		1.095	[1.046-1.146]	Affymetrix, Illumina [1230000] (imputed)	N
1156	chr4	74872444	74872445	rs16850360	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	4q13.3	CXCL5, PF4, PPBP	rs16850360-?	0.03	3E-10				Illumina [~ 2000000] (imputed)	N
1156	chr4	74873634	74873635	rs11729931	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	4q13.3	CXCL5, CXCL3	rs11729931-C	0.85	3E-6	(Women)	0.014849857	[0.0086-0.0211] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1156	chr4	74956371	74956372	rs546829	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	4q13.3	CXCL2	rs546829-A	0.43	3E-7	(neutrophil count)	0.06	[0.04-0.08] unit increase	Illumina [2178645] (imputed)	N
1156	chr4	74971195	74971196	rs549280	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	4q13.3	NR	rs549280-?	NR	4E-10		0.011	[0.0075-0.0145] unit decrease	Illumina [NR] (imputed)	N
1156	chr4	74971195	74971196	rs549280	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	4q13.3	NR	rs549280-?	NR	1E-6		0.0204	[0.012-0.029] unit decrease	Illumina [NR] (imputed)	N
1157	chr4	74977836	74977837	rs1371799	21738479	Reiner AP	2011-06-30	PLoS Genet	Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).	White blood cell count	16,388 African American individuals	3,551 Hispanic individuals, 14,767 Japanese ancestry individuals, 19,509 European ancestry individuals	4q13.3	CXCL2	rs1371799-?	NR	2E-17				Affymetrix, Illumina [2489215] (imputed)	N
1157	chr4	75084731	75084732	rs182616603	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	4q13.3	MTHFD2L	rs182616603-T	0.01	2E-12		0.314	[0.23-0.4] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1157	chr4	75084731	75084732	rs182616603	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	4q13.3	MTHFD2L	rs182616603-T	0.01	2E-17		0.374	[0.29-0.46] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1158	chr4	75160823	75160824	rs16850864	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	4q13.3	MTHFD2L	rs16850864-A		7E-9	(EA)			Illumina [NR]	N
1158	chr4	75170139	75170140	rs16850885	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	4q13.3	EPGN, MTHFD2L	rs16850885-A		7E-9	(EA)			Illumina [NR]	N
1158	chr4	75223710	75223711	rs2168889	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	4q13.3	EREG	rs2168889-?	0.05	6E-14				Illumina [~ 2000000] (imputed)	N
1158	chr4	75224589	75224590	rs1350666	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	4q13.3	EREG	rs1350666-?	NR	8E-6	(binary)			Perlegen [429981]	N
1160	chr4	75419786	75419787	rs10034692	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	4q13.3	AREG	rs10034692-A	0.74	2E-10		0.16	[0.1-0.22] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1161	chr4	75502486	75502487	rs62314947	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	4q13.3	EREG, AREGB, EPGN, AREG	rs62314947-T	0.281	5E-8		0.101	[0.064-0.138] cup size decrease	Illumina [7422970] (imputed)	N
1161	chr4	75543288	75543289	rs12642133	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	4q13.3	AREG	rs12642133-A	0.3	8E-10				Affymetrix, Illumina [~ 2500000] (imputed)	N
1162	chr4	75713367	75713368	rs10518128	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	4q13.3	BTC	rs10518128-?	NR	7E-6	(Delta power, Cz)	0.092	[0.053-0.131] unit decrease	Illumina [527829]	N
1162	chr4	75746664	75746665	rs6854845	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	4q13.3	intergenic	rs6854845-?		9E-7	(overall survival)	4.12	[2.34-7.26]	Illumina [729737]	N
1162	chr4	75746664	75746665	rs6854845	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	4q13.3	intergenic	rs6854845-?		6E-7	(disease-free survival)	3.31	[2.07-5.30]	Illumina [729737]	N
1165	chr4	76030920	76030921	rs1426063	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	4q13.3	NR	rs1426063-A	0.55	8E-6		1.18	[0.67-1.69] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1166	chr4	76207569	76207570	rs7689350	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	4q13.3	NR	rs7689350-C	0.115	5E-6		1.93	[1.45-2.55]	Illumina [7261187] (imputed)	N
1167	chr4	76332974	76332975	rs2903698	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	4q21.1	NR	rs2903698-?	NR	6E-6		1.2528	[NR]	Illumina [NR] (imputed)	N
1168	chr4	76416386	76416387	rs13137105	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	4q21.1	RCHY1	rs13137105-?	0.38	9E-7	(CTJC, RF-)	6.39	[NR] unit decrease	Illumina [534053]	N
1168	chr4	76481729	76481730	rs17000647	22658654	Chung SJ	2012-05-30	Parkinsonism Relat Disord	Genomic determinants of motor and cognitive outcomes in Parkinson's disease.	Parkinson's disease (motor and cognition)	443 European ancestry cases	NA	4q21.1	C4orf26	rs17000647-?	NR	5E-6	(cognitive outcome)	5.58	[3.00-10.38]	NR [198345]	N
1168	chr4	76542748	76542749	rs6852678	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	4q21.1		rs6852678-T	NR	8E-6		0.0235	[NR] mg/dl increase	Illumina [up to 509150]	N
1169	chr4	76643451	76643452	rs6838240	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	4q21.1	NR	rs6838240-C	NR	7E-6	(EA)	0.037	(0.02095-0.05305) mg/dl increase	Illumina [up to 509150]	N
1169	chr4	76643451	76643452	rs6838240	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	4q21.1	NR	rs6838240-C	NR	2E-6		0.0372	[NR] mg/dl increase	Illumina [up to 509150]	N
1171	chr4	76889387	76889388	rs2273	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	4q21.1	SDAD1	rs2273-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1173	chr4	77129567	77129568	rs17001654	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q21.1	SCARB2	rs17001654-G	0.154	5E-9		0.03	[0.02-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1173	chr4	77129567	77129568	rs17001654	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q21.1	SCARB2	rs17001654-G	0.153	8E-9	(EA)	0.031	[0.02-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1173	chr4	77129567	77129568	rs17001654	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q21.1	SCARB2	rs17001654-G	0.153	2E-6	(EA, women)	0.032	[0.019-0.045] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1173	chr4	77198985	77198986	rs6812193	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	4q21.1	SCARB2, FAM47E	rs6812193-C	0.636	3E-11		1.1	[1.07-1.13]	Illumina [7893274] (imputed)	N
1173	chr4	77198985	77198986	rs6812193	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	4q21.1	SCARB2	rs6812193-C	0.64	8E-10		1.19	[1.12-1.27]	Illumina [522782]	N
1173	chr4	77198985	77198986	rs6812193	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	4q21.1	STBD1	rs6812193-C	0.66	4E-7		1.12	[NR]	Illumina [463185]	N
1175	chr4	77360430	77360431	rs9992101	20383145	Chambers JC	2010-04-11	Nat Genet	Genetic loci influencing kidney function and chronic kidney disease.	Creatinine levels	23,812 European ancestry individuals	16,626 European ancestry individuals	4q21.1	SHROOM3	rs9992101-?	NR	6E-9				Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1175	chr4	77368846	77368847	rs17319721	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	4q21.1	CCDC158, SHROOM3	rs17319721-A	0.43	1E-19	(eGFRcrea)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1175	chr4	77368846	77368847	rs17319721	19430482	Kottgen A	2009-05-10	Nat Genet	Multiple loci associated with indices of renal function and chronic kidney disease.	Renal function and chronic kidney disease	2,388 European ancestry cases, 17,489 European ancestry controls	1,932 cases, 19,534 controls	4q21.1	SHROOM3	rs17319721-A	0.44	1E-12	(eGFRcrea)	0.01	[0.008-0.016] ml/min/1.73m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1175	chr4	77398014	77398015	rs10032549	23535967	Tin A	2013-03-28	J Hum Genet	Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.	Glomerular filtration rate	9,049 European ancestry individuals		4q21.1	SHROOM3	rs10032549-A	0.47	1E-8	(3-measure model)	0.93	[0.62-1.24] unit increase	Affymetrix [> 2500000] (imputed)	N
1175	chr4	77410317	77410318	rs4859682	23535967	Tin A	2013-03-28	J Hum Genet	Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.	Glomerular filtration rate	9,049 European ancestry individuals		4q21.1	SHROOM3	rs4859682-A	0.45	2E-9	(6-measure Model)	0.96	[0.65-1.27] unit decrease	Affymetrix [> 2500000] (imputed)	N
1175	chr4	77412139	77412140	rs13146355	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	4q21.1	SHROOM3	rs13146355-A	0.21	9E-12		0.0047	[0.0033-0.0061] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
1175	chr4	77412139	77412140	rs13146355	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	4q21.1	SHROOM3	rs13146355-A	0.21	7E-11		0.0051	[0.0035-0.0067] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
1175	chr4	77412139	77412140	rs13146355	20700443	Meyer TE	2010-08-05	PLoS Genet	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	Magnesium levels	15,366 European ancestry individuals	8,463 European ancestry individuals	4q21.1	SHROOM3	rs13146355-G	0.56	6E-13		0.01	[0.003-0.007] mmol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1175	chr4	77418680	77418681	rs13106227	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	4q21.1	NR	rs13106227-?	0.62	4E-6		1.52	[1.20-1.92]	Illumina [~ 550000]	N
1175	chr4	77420783	77420784	rs1986734	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	4q21.1	NR	rs1986734-?	0.49	1E-6		1.54	[1.22-1.89]	Illumina [~ 550000]	N
1177	chr4	77614639	77614640	rs9993810	26058915	Tin A	2015-05-29	BMC Genet	Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study.	Magnesium levels	2,737 African American individuals	942 African American individuals	4q21.1	SHROOM3	rs9993810-A	0.47	6E-6		0.008	[NR] mmol/L decrease	Affymetrix [14825944] (imputed)	N
1178	chr4	77763997	77763998	rs10518159	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	4q21.1	intergenic	rs10518159-?		1E-6				NR [~ 3000000] (imputed)	N
1178	chr4	77771344	77771345	rs17002253	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	4q21.1	RP11-123J14.1	rs17002253-?	NR	7E-6	(PHT)			Illumina [NR]	N
1179	chr4	77955204	77955205	rs17002342	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	4q21.1	SEPT11	rs17002342-T	0.13	9E-6	(AA, Alcohol intake)	0.61	[0.34-0.88] unit increase	Affymetrix [706791]	N
1181	chr4	78136932	78136933	rs11937061	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	4q21.1	intergenic	rs11937061-?	0.36	2E-7	(CTJC, RF-)	6.7	[NR] unit decrease	Illumina [534053]	N
1182	chr4	78341659	78341660	rs7677281	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second to forced vital capacity ratio)	1,015 European ancestry individuals, 541 African American individuals	NA	4q21.1	NR	rs7677281-?		6E-6	(AA)			Illumina [up to 524000]	N
1182	chr4	78346376	78346377	rs7669806	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q21.1	NR	rs7669806-?	NR	7E-6	(AA)	0.4845	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1184	chr4	78605368	78605369	rs958617	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	4q21.1	CNOT6L	rs958617-G	0.7	3E-7		6.6667	[NR]	Affymetrix [up to 4467279] (imputed)	N
1186	chr4	78896547	78896548	rs114622739	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q21.1	NR	rs114622739-?	NR	2E-7	(Latino)	1.3251	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1188	chr4	79079756	79079757	rs17002988	23703922	Li WD	2013-01-02	Obesity (Silver Spring)	A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.	Uric acid levels	487 European ancestry obese individuals, 472 non-obese individuals	NA	4q21.21	FRAS1	rs17002988-?	NR	6E-6	(Obese)			Illumina [~ 550000]	N
1189	chr4	79280692	79280693	rs1268789	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	4q21.21	FRAS1	rs1268789-T	NR	7E-8				Illumina [~ 1000000] (imputed)	N
1191	chr4	79506863	79506864	rs7679218	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	4q21.21	ANXA3	rs7679218-?		5E-6				Illumina [859311]	N
1191	chr4	79513214	79513215	rs2867461	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	4q21.21	ANXA3	rs2867461-A	0.44	1E-12		1.13	[1.09-1.17]	Affymetrix, Illumina [1948139]	N
1192	chr4	79589044	79589045	rs10007186	22558069	Osman W	2012-04-27	PLoS One	Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.	Non-albumin protein levels	Up to 9,103 Japanese ancestry individuals	Up to 1,629 Japanese ancestry individuals	4q21.21	ANXA3	rs10007186-C	0.307	1E-9	(NAP)	0.085	[0.058-0.112] unit increase	Illumina [2178644] (imputed)	N
1199	chr4	80530670	80530671	rs9307551	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	4q21.21	LOC100506035	rs9307551-A	0.25	1E-8		0.099	[0.066-0.132] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1199	chr4	80564507	80564508	rs10518224	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	4q21.21	intergenic	rs10518224-A	0.23	7E-6	(TG)	0.19	[NR] mg/dL increase	Affymetrix [408775]	N
1201	chr4	80850804	80850805	rs4234848	25781172	Avramopoulos D	2015-03-17	PLoS One	Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.	Bipolar disorder (inflammation and infection response interaction)	397 Ashkenazi Jewish bipolar disorder cases, 241  Ashkenazi Jewish controls	NA	4q21.21	ANTXR2, PCAT4	rs4234848-?		4E-6	(anti-HSV1)			Affymetrix [516638]	N
1202	chr4	80946474	80946475	rs4389526	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	4q21.21	ANTXR2	rs4389526-A	0.63	9E-8				Illumina [2223620] (imputed)	N
1202	chr4	80949828	80949829	rs4333130	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	4q21.21	ANTXR2	rs4333130-?	0.64	9E-8		1.22	[1.12-1.32]	Illumina [288662]	N
1203	chr4	81073219	81073220	rs2867695	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	4q21.21	PRDM8	rs2867695-?	NR	4E-6		1.412	[0.84-1.99] unit decrease	Illumina [498648]	N
1204	chr4	81157702	81157703	rs1902859	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	4q21.21	FGF5	rs1902859-C	0.41	2E-22		1.34	[1.07-1.61] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1204	chr4	81157702	81157703	rs1902859	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	4q21.21	FGF5	rs1902859-C	0.41	8E-18				Affymetrix, Illumina [2485448] (imputed)	N
1204	chr4	81157702	81157703	rs1902859	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	4q21.21	FGF5	rs1902859-C	0.41	4E-20		0.71	[0.55-0.87] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1204	chr4	81164722	81164723	rs1458038	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	4q21.21	FGF5	rs1458038-T	0.29	2E-23		0.706	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1204	chr4	81164722	81164723	rs1458038	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	4q21.21	FGF5	rs1458038-T	0.29	9E-25		0.457	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1204	chr4	81164722	81164723	rs1458038	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	4q21.21	FGF5	rs1458038-T	0.30	3E-14	(Mean Arterial Pressure)	0.403	[0.30-0.51] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1204	chr4	81169911	81169912	rs11099098	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	4q21.21	FGF5, PRDM8	rs11099098-T		9E-8	(EA, PP, Age 50-59)	0.52	[0.32-0.72] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1204	chr4	81169911	81169912	rs11099098	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	4q21.21	FGF5, PRDM8	rs11099098-T		2E-11	(EA, SBP, Age 50-59)	0.97	[0.7-1.24] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1204	chr4	81169911	81169912	rs11099098	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	4q21.21	FGF5	rs11099098-T	0.29	7E-7		0.029	[0.017-0.041] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1204	chr4	81184340	81184341	rs16998073	19430483	Newton-Cheh C	2009-05-10	Nat Genet	Genome-wide association study identifies eight loci associated with blood pressure.	Diastolic blood pressure	34,433 European ancestry individuals	Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals	4q21.21	FGF5, PRDM8, c4orf22	rs16998073-T	0.21	1E-21		0.5	[0.40-0.60] mm Hg increase	Affymetrix, Illumina [2497993] (imputed)	N
1207	chr4	81535392	81535393	rs1385890	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q21.21	C4orf22	rs1385890-G	0.193	4E-6	(Vitamin B12 )	0.02	[NR] pmol/L increase	Illumina [899892]	N
1210	chr4	81930813	81930814	rs1960445	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	4q21.21	BMP3	rs1960445-C	0.017	1E-6		0.114	[0.067-0.161] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1210	chr4	82009706	82009707	rs3796804	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 susceptibility	496 African ancestry cases and 302 African ancestry exposed controls from serodiscordant couples	NA	4q21.21	PRKG2	rs3796804-?	NR	9E-6				Illumina [990115]	N
1211	chr4	82126120	82126121	rs17484474	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	4q21.21	PRKG2	rs17484474-?	NR	6E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1211	chr4	82144925	82144926	rs1662853	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	4q21.21	BMP3, PRKG2	rs1662853-C	0.76	1E-7	(Pubertal growth)	0.08	[0.051-0.109] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1211	chr4	82149830	82149831	rs710841	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	4q21.21	PRKG2	rs710841-?	0.12	2E-8		0.07	[0.04-0.10] s.d. increase	Illumina [229216]	N
1211	chr4	82149830	82149831	rs710841	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	4q21.21	BMP3, PRKG2, RASGEF1B	rs710841-A	0.27	2E-6		5.0	[3.04-6.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1211	chr4	82150005	82150006	rs788867	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4q21.21	PRKG2/BMP3	rs788867-T	0.68	9E-28		0.043	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1211	chr4	82155567	82155568	rs17556750	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4q21.21	PRKG2	rs17556750-A	0.314	8E-48		0.046	[0.04-0.052] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1211	chr4	82165789	82165790	rs994014	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	4q21.21	intergenic	rs994014-T	0.29	8E-10		0.054	[0.036-0.072] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1212	chr4	82184233	82184234	rs1878528	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	4q21.21	PRKG2	rs1878528-G	0.33	4E-18		1.2	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1212	chr4	82220323	82220324	rs2011962	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4q21.21	RASGEF1B	rs2011962-A	0.82	3E-15		0.046	[0.032-0.06] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1214	chr4	82462596	82462597	rs1822818	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	4q21.22	RASGEF1B	rs1822818-T	0.87	6E-6	(partial response - SSRI treated - 2 weeks)	1.7737	[1.53-2.02]	Affymetrix, Illumina [1200000] (imputed)	N
1218	chr4	83093229	83093230	rs182442984	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	4q21.22	NR	rs182442984-?		4E-7	(PCB180)	0.48	[0.3-0.66] unit decrease	Illumina [8736858] (imputed)	N
1218	chr4	83093229	83093230	rs182442984	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	4q21.22	NR	rs182442984-?		2E-7	(PCB170)	0.48	[0.3-0.66] unit decrease	Illumina [8736858] (imputed)	N
1218	chr4	83093229	83093230	rs182442984	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	4q21.22	NR	rs182442984-?		1E-7	(PCB169)	0.51	[0.31-0.71] unit decrease	Illumina [8736858] (imputed)	N
1222	chr4	83499312	83499313	rs7658637	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	4q21.22	AC067942.6-1	rs7658637-?	NR	6E-7	(Animals)			Illumina [up to 563855]	N
1222	chr4	83512840	83512841	rs72909131	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4q21.22	NR	rs72909131-?	NR	7E-7		0.5037	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1228	chr4	84373621	84373622	rs4693089	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	4q21.23	HELQ	rs4693089-G	0.486	2E-19		0.228	[0.18-0.28] years increase	Affymetrix, Illumina [2551160] (imputed)	N
1228	chr4	84374479	84374480	rs1494961	21437268	McKay JD	2011-03-17	PLoS Genet	A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.	Upper aerodigestive tract cancers	2,091 European ancestry cases, 8,334 European ancestry controls	6,574 European ancestry cases, 7,892 European ancestry controls	4q21.23	HEL308, ADH, FAM175A	rs1494961-C	0.49	1E-8		1.12	[1.08-1.17]	Illumina [294620]	N
1231	chr4	84721813	84721814	rs4693646	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q21.23	MAG1, AGPAT9	rs4693646-A	0.407	9E-6	(IGF1 free )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1242	chr4	86129615	86129616	rs7691216	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q21.23	NR	rs7691216-G	0.155663414959929	7E-6	(IGP15)	0.1881	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
1243	chr4	86280637	86280638	rs342958	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q21.23	C4orf12, ARHGAP24	rs342958-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1246	chr4	86641148	86641149	rs7692808	20062060	Pfeufer A	2010-01-10	Nat Genet	Genome-wide association study of PR interval.	PR interval	28,517 European ancestry individuals	NA	4q21.23	ARHGAP24	rs7692808-A	0.31	6E-20		2.01	[1.58-2.44] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1246	chr4	86651463	86651464	rs7660702	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	4q21.23	ARHGAP24	rs7660702-T	0.74	3E-17	(PR interval)	8.46	[6.50-10.42] % s.d. increase	Illumina [306060]	N
1246	chr4	86674198	86674199	rs13137008	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	PR segment	16,468 European ancestry individuals	NA	4q21.23	ARHGAP24	rs13137008-T	0.697	1E-14		1.764	[1.32-2.21] unit increase	Illumina [2300000] (imputed)	N
1246	chr4	86683559	86683560	rs11732231	23139255	Butler AM	2012-11-08	Circ Cardiovasc Genet	Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.	PR interval	13,415 African American individuals	NA	4q21.23	ARHGAP24	rs11732231-C	0.23	3E-9		2.28	[1.52-3.04] unit increase	Affymetrix, Illumina [2845108] (imputed)	N
1246	chr4	86693316	86693317	rs16995986	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q21.23	ARHGAP24, C4orf12, MAPK10	rs16995986-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1246	chr4	86715311	86715312	rs7687906	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q21.23	ARHGAP24	rs7687906-C	0.217	5E-6	(Amylin )	0.03	[NR] pM increase	Illumina [899892]	N
1248	chr4	86979582	86979583	rs3775182	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	4q21.3	MAPK10	rs3775182-?		3E-6				Affymetrix, Illumina [1348798]	N
1249	chr4	87132770	87132771	rs2904090	25353672	Fernandez-Navarro P	2014-10-29	Int J Cancer	Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.	Mammographic density	239 European ancestry low mammographic density females, 239 European ancestry high mammographic density females	NA	4q21.3	NR	rs2904090-C	0.185	8E-6		2.22	[1.54-3.13]	Illumina [575374]	N
1250	chr4	87232983	87232984	rs11726269	25009551	Kullo IJ	2014-06-25	Front Genet	The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.	Peripheral artery disease	1,641 European ancestry cases, 1,604 European ancestry controls	740 European ancestry cases, 1,501 European ancestry controls	4q21.3	MAPK10	rs11726269-G	NR	2E-6		1.39	[1.22-1.59]	Illumina [537872]	N
1252	chr4	87473775	87473776	rs4478147	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	4q21.3	intergenic	rs4478147-G	0.47	2E-6		1.12	[1.07-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1253	chr4	87683714	87683715	rs181519890	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	4q21.3	NR	rs181519890-C	0.003	6E-6		1.063	[0.60-1.52] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1254	chr4	87754418	87754419	rs10050311	22791750	Chen G	2012-07-12	Hum Mol Genet	Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.	Insulin-related traits	927 African American non-diabetic individuals	570 West African ancestry non-diabetic individuals	4q21.3	SLC10A6	rs10050311-T	0.09	8E-6	(FI)	0.25	[0.13-0.37] unit decrease	Affymetrix [5396838] (imputed)	N
1255	chr4	87832600	87832601	rs3113494	22470424	Kwee LC	2012-03-28	PLoS One	A high-density genome-wide association screen of sporadic ALS in US veterans.	Amyotrophic lateral sclerosis	Up to 639 European ancestry cases, 6,257 European ancestry controls	Up to 183 European ancestry cases, 961 European ancestry controls	4q21.3	LOC100506746	rs3113494-?	NR	9E-7	(outcome)	1.43	[1.25-1.67]	Affymetrix, Illumina [1280579]	N
1255	chr4	87931403	87931404	rs340635	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		4q21.3	AFF1	rs340635-?	0.03	2E-7		0.23	unit decrease	Illumina [NR] (imputed)	N
1256	chr4	87958394	87958395	rs340630	22291604	Okada Y	2012-01-26	PLoS Genet	A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese.	Systemic lupus erythematosus	891 Japanese ancestry cases, 3,384 Japanese ancestry controls	1,387 Japanese ancestry cases, 28,564 Japanese ancestry controls	4q21.3	AFF1	rs340630-A	0.52	8E-9		1.21	[1.14-1.30]	Illumina [430797]	N
1256	chr4	88018990	88018991	rs2035403	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	4q21.3	AFF1, KLHL8	rs2035403-G	0.39	2E-10		0.039	[0.027-0.051] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1256	chr4	88030260	88030261	rs442177	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	4q22.1	KLHL8	rs442177-G	0.42	1E-18		0.031	[NR] mg/dL decrease	NR [NR] (imputed)	N
1256	chr4	88030260	88030261	rs442177	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	4q22.1	AFF1	rs442177-A	0.50	3E-10		0.02	[0.01-0.03] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1256	chr4	88030260	88030261	rs442177	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	4q22.1	KLHL8, AFF1	rs442177-G	0.41	9E-12		2.25	[1.51-2.99] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1256	chr4	88076128	88076129	rs115694618	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	4q22.1	KLHL8, AFF1, C4orf36, HSD17B11, HSD17B13	rs115694618-A	0.979	4E-6		0.123	[0.07-0.176] unit decrease	Illumina [6150213] (imputed)	N
1257	chr4	88186508	88186509	rs7694379	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	4q22.1	HSD17B13	rs7694379-A	NR	9E-9		2.129	[1.4-2.85] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1258	chr4	88213807	88213808	rs6834314	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alanine transaminase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	4q22.1	HSD17B13, MAPK10	rs6834314-A	0.75	3E-9		2.6	[1.90-3.40] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1259	chr4	88400109	88400110	rs4610302	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Esophageal adenocarcinoma	1,516 European ancestry cases, 3,209 European ancestry controls	874 European ancestry cases, 6,911 European ancestry controls	4q22.1	NR	rs4610302-G	0.59	4E-6		1.1765	[1.1-1.27]	Illumina [922031]	N
1261	chr4	88671937	88671938	rs11733008	25145502	Tang S	2014-08-22	Ann Surg Oncol	Genome-wide Association Study of Survival in Early-stage Non-Small Cell Lung Cancer.	Non-small cell lung cancer (survival)	354 Han Chinese ancestry cases	327 Han Chinese ancestry cases	4q22.1	NR	rs11733008-?	NR	3E-6		1.76	[1.39-2.23]	Affymetrix [589102]	N
1261	chr4	88707080	88707081	rs13136331	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	4q22.1	NR	rs13136331-T	0.32	5E-6	(EA)	0.048	[0.028-0.068] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1261	chr4	88732691	88732692	rs1054627	21533022	Duncan EL	2011-04-21	PLoS Genet	Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.	Bone mineral density	900 European ancestry female individuals with low hip bone mineral density, 1,055 European ancestry female individuals with high hip bone mineral density	20,898 European ancestry female individuals	4q22.1	IBSP	rs1054627-G	NR	8E-7	(femoral neck)	0.05	[NR] unit decrease	Illumina [2543887] (imputed)	N
1262	chr4	88755827	88755828	rs7698623	21779381	Schurks M	2011-07-14	PLoS One	Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.	Cardiovascular disease risk factors	5,122 European ancestry female migrain cases	NA	4q22.1	MEPE	rs7698623-?	NR	3E-7	(migraineurs with aura - ischemic stroke)	6.37	[3.15-12.90]	Illumina [339596]	N
1262	chr4	88773848	88773849	rs6532023	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	4q22.1	MEPE	rs6532023-T	0.34	3E-6		0.07	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
1262	chr4	88773848	88773849	rs6532023	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	4q22.1	MEPE	rs6532023-T	0.34	1E-27	(LSBMD)	0.06	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1262	chr4	88775242	88775243	rs1471403	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	4q22.1	MEPE	rs1471403-T	0.34	2E-8		0.07	[0.05-0.09] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
1262	chr4	88775242	88775243	rs1471403	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	4q22.1	MEPE	rs1471403-T	0.34	8E-7		0.06	[0.04-0.08] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
1262	chr4	88799709	88799710	rs1463104	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	4q22.1	MEPE	rs1463104-?	NR	2E-9	(spine)			Affymetrix, Illumina [5842825] (imputed)	N
1262	chr4	88805207	88805208	rs12644436	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	4q22.1	HSP90AB3P	rs12644436-?	NR	6E-6				Illumina [990115]	N
1263	chr4	88919105	88919106	rs2725236	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	4q22.1	intergenic	rs2725236-A	0.48	5E-6		0.065	[0.04-0.10] mg/day decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1263	chr4	88959921	88959922	rs2725220	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (urea)	21,417 East Asian ancestry individuals	11,657 East Asian ancestry individuals	4q22.1	ABCG2	rs2725220-C	0.32	4E-30		0.135	[0.11-0.16] mg/dl increase	Affymetrix, Illumina [2278301] (imputed)	N
1264	chr4	89001892	89001893	rs2728125	25646370	Matsuo H	2015-02-02	Ann Rheum Dis	Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.	Gout	945 Japanese ancestry cases, 1,213 Japanese ancestry controls	1,048 Japanese ancestry cases, 1,334 Japanese ancestry controls	4q22.1	ABCG2	rs2728125-C	0.24	7E-54		2.04	[1.86-2.23]	Illumina [570442]	N
1264	chr4	89006159	89006160	rs2728124	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	4q22.1	NR	rs2728124-A	0.463	8E-6	(EA)	0.044	[0.024-0.064] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1264	chr4	89039081	89039082	rs1481012	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	4q22.1	ABCG2	rs1481012-G	0.11	9E-8		0.136	[0.085-0.187] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1264	chr4	89039081	89039082	rs1481012	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption (cups per day)	91,462 European ancestry individuals	30,062 European ancestry individuals, 7,964 African American individuals	4q22.1	ABCG2, PKD2, PPM1K	rs1481012-A	0.89	9E-8		0.06	[0.040-0.080] unit increase	Affymetrix, Illumina [2373958] (imputed)	N
1264	chr4	89039081	89039082	rs1481012	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Gout	2,115 European ancestry cases, 67,259 European ancestry controls	1,036 European ancestry cases	4q22.1	ABCG2	rs1481012-A	0.8903	2E-32		0.5484	[0.46-0.64] unit decrease	Affymetrix, Illumina [2538056] (imputed)	N
1264	chr4	89039081	89039082	rs1481012	22331829	Chasman DI	2012-02-13	Circ Cardiovasc Genet	Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.	Response to statin therapy (LDL-C)	6,989 European ancestry individuals	NA	4q22.1	ABCG2	rs1481012-?	NR	2E-15	(fractional LDL-C reduction)	5.1	[3.34-6.86] % decrease	Illumina [814418]	N
1264	chr4	89045330	89045331	rs2199936	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	4q22.1	ABCG2	rs2199936-G	0.89	1E-22	(men)	0.243	[0.19-0.29] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1264	chr4	89045330	89045331	rs2199936	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	4q22.1	ABCG2	rs2199936-G	0.9	1E-22	(Men)	0.323	[0.26-0.39] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1264	chr4	89045330	89045331	rs2199936	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity change in response to statin therapy	2,673 European ancestry cases, 2,656 European ancestry controls	NA	4q22.1	ABCG2	rs2199936-A	0.11	2E-10	(percent change)	2.8	[1.82-3.78] percent decrease	Illumina [796174]	N
1264	chr4	89045330	89045331	rs2199936	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	4q22.1	ABCG2	rs2199936-A	0.12	2E-17	(UA)	0.188	[0.14-0.23] umol/l increase	Illumina [NR] (imputed)	N
1264	chr4	89045330	89045331	rs2199936	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	4q22.1	ABCG2	rs2199936-A	0.11	3E-23	(Gout)	1.86	[1.64-2.10]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1264	chr4	89045330	89045331	rs2199936	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	4q22.1	ABCG2	rs2199936-A	0.11	1E-75	(Urate)	18.08	[16.16-20.00] umol/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	25967671	Li C	2015-05-13	Nat Commun	Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.	Gout	1,255 Han Chinese ancestry male cases, 1,848 Han Chinese ancestry male controls	3,020 Han Chinese ancestry male cases, 4,424 Han Chinese ancestry male controls	4q22.1	NR	rs2231142-T	0.309	5E-10		1.82	[NR]	Affymetrix [603505]	N
1264	chr4	89052322	89052323	rs2231142	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	4q22.1	ABCG2	rs2231142-G	0.89	2E-30		0.215	[0.18-0.25] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	4q22.1	ABCG2	rs2231142-G	0.89	2E-11	(women)	0.19	[0.14-0.24] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	4q22.1	ABCG2	rs2231142-G	0.89	1E-7		0.135	[0.086-0.184] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	4q22.1	ABCG2	rs2231142-G	0.89	6E-13	(Women)	0.173	[0.13-0.22] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	4q22.1	ABCG2	rs2231142-G	0.89	2E-29		0.223	[0.18-0.26] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	24513273	Yang B	2014-02-11	BMC Med Genomics	A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.	Serum uric acid levels	3,451 Han Chinese ancestry individuals	8,830 Chinese ancestry individuals	4q22.1	ABCG2	rs2231142-T	0.31	3E-42		0.045	[0.037-0.053] unit increase	Affymetrix, Illumina [658288]	N
1264	chr4	89052322	89052323	rs2231142	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	4q22.1	ABCG2	rs2231142-T	0.11	1E-134		0.217	[0.20-0.23] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	22229870	Karns R	2012-01-09	Ann Hum Genet	Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.	Uric acid levels	1,300 European ancestry individuals	NA	4q22.1	ABCG2	rs2231142-T	0.08	5E-6		27.4	[NR] umol/L increase	Affymetrix [2241249] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	21983786	Sulem P	2011-10-09	Nat Genet	Identification of low-frequency variants associated with gout and serum uric acid levels.	Serum uric acid levels	15,506 European ancestry individuals	NA	4q22.1	ABCG2	rs2231142-T	0.101	2E-20		0.16	[0.12-0.19] s.d. increase	Illumina [15957390] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	21983786	Sulem P	2011-10-09	Nat Genet	Identification of low-frequency variants associated with gout and serum uric acid levels.	Gout	968 European ancestry cases, 40,000 European ancestry controls	NA	4q22.1	ABCG2	rs2231142-T	0.101	3E-12		1.67	[1.43-1.92]	Illumina [15957390] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	4q22.1	ABCG2	rs2231142-T	0.11	2E-18	(men)	0.22	[0.171-0.270] mg/dl increase	Affymetrix, Illumina [2493963] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	4q22.1	ABCG2	rs2231142-T	0.11	1E-10	(women)	0.14	[0.096-0.181] mg/dl increase	Affymetrix, Illumina [2493963] (imputed)	N
1264	chr4	89052322	89052323	rs2231142	18834626	Dehghan A	2008-10-01	Lancet	Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.	Urate levels	11,847 European ancestry individuals	11,024 European ancestry individuals, 3,843 African American individuals	4q22.1	ABCG2	rs2231142-?	0.11	3E-60	(EA)	0.24	[0.20-0.28] SD increase in serum uric acid level	Affymetrix, Illumina [up to 530683]	N
1264	chr4	89054666	89054667	rs4148155	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Urate levels	8,868 Japanese ancestry individuals	NA	4q22.1	ABCG2	rs4148155-G	0.3	1E-13		0.121	[0.09-0.152] unit increase	Illumina [561583]	N
1264	chr4	89060908	89060909	rs4148152	24513273	Yang B	2014-02-11	BMC Med Genomics	A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.	Serum uric acid levels	3,451 Han Chinese ancestry individuals	8,830 Chinese ancestry individuals	4q22.1	ABCG2	rs4148152-C	0.33	3E-18		0.029	[0.021-0.037] unit decrease	Affymetrix, Illumina [658288]	N
1264	chr4	89064580	89064581	rs3114018	24513273	Yang B	2014-02-11	BMC Med Genomics	A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.	Serum uric acid levels	3,451 Han Chinese ancestry individuals	8,830 Chinese ancestry individuals	4q22.1	ABCG2	rs3114018-T	0.38	4E-20		0.029	[0.021-0.037] unit decrease	Affymetrix, Illumina [658288]	N
1264	chr4	89064580	89064581	rs3114018	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	4q22.1	PKD2, SPP1, MEPE, IBSP, DMP1, DSPP, ABCG2	rs3114018-?	NR	7E-8	(DMFS5mand,DMFS5)			Illumina [518997]	N
1264	chr4	89078923	89078924	rs2622604	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	4q22.1	ABCG2	rs2622604-T	0.23	9E-6		0.04	[0.02-0.06] unit decrease	Illumina [1632371] (imputed)	N
1265	chr4	89203669	89203670	rs893971	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	4q22.1	PPM1K	rs893971-T	0.60	7E-6	(int, MC)	1.15	[NR] unit decrease	Perlegen [429901]	N
1265	chr4	89220943	89220944	rs9995093	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	4q22.1	PIGY	rs9995093-?	NR	7E-6	(NSM vs. Control)	2.067	[NR]	Affymetrix [703012]	N
1265	chr4	89226421	89226422	rs1440581	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q22.1	PPM1K	rs1440581-T	0.46	3E-12	(valine)	0.008	[0.006-0.01] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1265	chr4	89226421	89226422	rs1440581	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q22.1	PPM1K	rs1440581-T	0.46	1E-19	(leucine)	0.008	[0.006-0.01] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1265	chr4	89226421	89226422	rs1440581	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q22.1	PPM1K	rs1440581-T	0.46	1E-16	(3-methyl-2-oxovalerate)	0.014	[0.01-0.018] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1265	chr4	89226421	89226422	rs1440581	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	4q22.1	HERC6, PPM1K	rs1440581-?	0.47	1E-10				Illumina [~ 2000000] (imputed)	N
1265	chr4	89226421	89226422	rs1440581	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	4q22.1	PPM1K	rs1440581-?	NR	2E-16	(Fischer's ratio)	0.13	[0.091-0.169] unit increase	Illumina [~ 7700000] (imputed)	N
1265	chr4	89243817	89243818	rs10022462	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q22.1	PPM1K	rs10022462-T	0.45	5E-11	(2-aminobutyrate)	0.012	[0.0081-0.0159] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1267	chr4	89421085	89421086	rs10516809	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	4q22.1	HERC5	rs10516809-?	NR	9E-6	(FEV1 decline in asthmatics)	0.3063	[0.17-0.44] unit increase	Illumina [~ 2500000] (imputed)	N
1269	chr4	89713120	89713121	rs9991328	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q22.1	FAM13A	rs9991328-T	0.4956	5E-10		0.0203	[0.014-0.027] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1269	chr4	89713120	89713121	rs9991328	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q22.1	FAM13A	rs9991328-T	0.4912	3E-11	(women)	0.029	[0.02-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1269	chr4	89713120	89713121	rs9991328	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q22.1	FAM13A	rs9991328-T	0.4882	4E-8	(EA)	0.0185	[0.012-0.025] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1269	chr4	89713120	89713121	rs9991328	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q22.1	FAM13A	rs9991328-T	0.4851	3E-10	(EA, women)	0.028	[0.019-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1269	chr4	89741268	89741269	rs3822072	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	4q22.1	FAM13A	rs3822072-A	0.46	4E-12		0.025	[NR] unit decrease	NR [NR] (imputed)	N
1270	chr4	89811194	89811195	rs2609255	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	4q22.1	FAM13A	rs2609255-G	0.21	2E-11		1.29	[1.18-1.42]	Illumina [439828]	N
1270	chr4	89866712	89866713	rs4416442	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	4q22.1	FAM13A	rs4416442-?	0.4	2E-10		1.36	[1.24-1.50]	Illumina [NR] (imputed)	N
1270	chr4	89866712	89866713	rs4416442	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (severe)	3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls	2,651 cases and their relatives	4q22.1	FAM13A	rs4416442-C	0.42	9E-15		1.36	[1.26-1.47]	Illumina [up to 701491] (imputed)	N
1270	chr4	89866712	89866713	rs4416442	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (moderate to severe)	5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls	2,651 cases and their relatives	4q22.1	FAM13A	rs4416442-C	0.42	1E-14		1.28	[1.20-1.36]	Illumina [up to 701491] (imputed)	N
1270	chr4	89869077	89869078	rs2869966	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease	3,777 European ancestry cases, 3,520 European ancestry smoker controls	NA	4q22.1	FAM13A	rs2869966-T	0.41	7E-10		1.29	[1.19-1.40]	Illumina [NR] (imputed)	N
1270	chr4	89869331	89869332	rs2869967	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	4q22.1	FAM13A	rs2869967-C	0.41	6E-10	(EA)	1.38	[1.25-1.53]	Illumina [NR] (imputed)	N
1270	chr4	89869331	89869332	rs2869967	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	4q22.1	FAM13A	rs2869967-?	NR	5E-11	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1270	chr4	89869331	89869332	rs2869967	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	4q22.1	FAM13A	rs2869967-T	0.61	1E-7	(FEV1/FVC)	0.3	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
1270	chr4	89872175	89872176	rs7674369	25101718	Lee JH	2015-03-01	Am J Respir Cell Mol Biol	IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.	Chronic obstructive pulmonary disease	3,281 European ancestry cases, 494 African American cases, 2,712 European ancestry smoker controls, 1,749 African American smoker controls	NA	4q22.1	FAM13A	rs7674369-A	0.41	1E-10		1.29	[1.19-1.39]	Illumina [NR] (imputed)	N
1270	chr4	89875908	89875909	rs1964516	22080838	Cho MH	2011-11-11	Hum Mol Genet	A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.	Chronic obstructive pulmonary disease	3,499 European ancestry cases, 1,922 European ancestry controls	983 cases, 1,876 sibling controls	4q22.1	FAM13A	rs1964516-?	NR	2E-9		1.37	[1.23-1.52]	Illumina [797983]	N
1270	chr4	89883978	89883979	rs7671167	20173748	Cho MH	2010-02-21	Nat Genet	Variants in FAM13A are associated with chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease	2,940 European ancestry cases, 1,380 European ancestry controls	502 European ancestry cases, 504 European ancestry controls, 1,110 cases, 2,698 controls	4q22.1	FAM13A	rs7671167-?	0.48	1E-11		1.32	[1.19-1.47]	Illumina [499578]	N
1271	chr4	89978799	89978800	rs16996151	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	4q22.1	KIAA0914	rs16996151-?	NR	6E-6	(SAS)			Affymetrix [492000]	N
1273	chr4	90190814	90190815	rs2116324	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q22.1	NR	rs2116324-T	0.8277	2E-6	(Trans/cis-18:2, EA)	0.0066	[0.0039-0.0093] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1273	chr4	90193726	90193727	rs6830724	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q22.1	NR	rs6830724-T	0.8499	1E-6	(Trans/cis-18:2, EA)	0.0067	[0.004-0.0094] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1273	chr4	90194159	90194160	rs6854292	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q22.1	NR	rs6854292-A	0.8525	2E-6	(Trans/cis-18:2, EA)	0.0067	[0.004-0.0094] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1276	chr4	90626110	90626111	rs356182	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	4q22.1	SNCA	rs356182-G	0.367	4E-73		1.32	[1.29-1.35]	Illumina [7893274] (imputed)	N
1276	chr4	90637600	90637601	rs356219	22438815	Lill CM	2012-03-15	PLoS Genet	Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.	Parkinson's disease	2,197 cases, 2,061 controls	Up to 98,080 European and Asian ancestry individuals	4q22.1	SNCA	rs356219-?	0.41	6E-65	(EA)	1.29	[1.25-1.33]	Illumina, Perlegen [7123920] (imputed)	N
1276	chr4	90637600	90637601	rs356219	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	4q22.1	SNCA	rs356219-G	0.39	2E-47		1.29	[1.25-1.33]	Illumina [7689524] (imputed)	N
1276	chr4	90639514	90639515	rs11931074	19915576	Satake W	2009-11-15	Nat Genet	Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.	Parkinson's disease	988 Japanese ancestry cases, 2,521 Japanese ancestry controls	933 Japanese ancestry cases, 15,753 Japanese ancestry controls	4q22.1	SNCA	rs11931074-?	NR	7E-17		1.37	[1.27-1.48]	Illumina [435470]	N
1276	chr4	90641339	90641340	rs356220	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	4q22.1	SNCA	rs356220-T	0.364	3E-11		1.38	[1.24-1.52]	Illumina [811597]	N
1276	chr4	90641339	90641340	rs356220	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	4q22.1	SNCA	rs356220-T	0.364	1E-9	(Sporadic)	1.37	[1.23-1.51]	Illumina [811597]	N
1276	chr4	90641339	90641340	rs356220	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	4q22.1	SNCA	rs356220-?	NR	8E-35		1.38	[NR]	Illumina [2500000] (imputed)	N
1276	chr4	90641339	90641340	rs356220	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	4q22.1	SNCA	rs356220-T	0.375	2E-19		1.29	[1.22-1.36]	Illumina [522782]	N
1276	chr4	90641339	90641340	rs356220	21084426	Saad M	2010-11-17	Hum Mol Genet	Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.	Parkinson's disease	1,039 European ancestry cases, 1,984 European ancestry controls	3,232 European ancestry cases, 7,064 European ancestry controls	4q22.1	SNCA	rs356220-T	0.35	3E-8		1.37	[NR]	Illumina [492929]	N
1276	chr4	90641339	90641340	rs356220	21044948	Spencer CC	2010-11-02	Hum Mol Genet	Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.	Parkinson's disease	1,705 European ancestry cases, 5,175 European ancestry controls	1,039 European ancestry cases, 1,984 European ancestry controls	4q22.1	SNCA	rs356220-A	0.36	9E-16		1.27	[1.17-1.37]	Illumina [532616]	N
1276	chr4	90641339	90641340	rs356220	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	4q22.1	SNCA	rs356220-T	0.36	3E-11		1.38	[1.25-1.52]	Illumina [811597]	N
1276	chr4	90678540	90678541	rs2736990	20070850	Edwards TL	2010-01-13	Ann Hum Genet	Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.	Parkinson's disease	1,752 European ancestry cases, 1,745 European ancestry controls	NA	4q22.1	SNCA	rs2736990-?	NR	7E-8		1.29	[1.18-1.43]	Illumina [495715] (imputed)	N
1276	chr4	90678540	90678541	rs2736990	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	4q22.1	SNCA	rs2736990-C	0.51	2E-16		1.23	[NR]	Illumina [463185]	N
1277	chr4	90780901	90780902	rs6532194	22438815	Lill CM	2012-03-15	PLoS Genet	Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.	Parkinson's disease	2,197 cases, 2,061 controls	Up to 98,080 European and Asian ancestry individuals	4q22.1	SNCA	rs6532194-?	0.40	5E-11	(Asian)	1.29	[1.20-1.39]	Illumina, Perlegen [7123920] (imputed)	N
1277	chr4	90797300	90797301	rs6532197	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	4q22.1	MMRN1	rs6532197-G	0.09	1E-7		1.32	[NR]	Illumina [463185]	N
1282	chr4	91401610	91401611	rs187200046	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	4q22.1	FAM190A	rs187200046-T		4E-6		0.2293	unit increase	Illumina [5767231] (imputed)	N
1282	chr4	91401610	91401611	rs187200046	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	4q22.1	FAM190A	rs187200046-T	NR	2E-6		0.2366	unit increase	Illumina [5767231] (imputed)	N
1283	chr4	91515264	91515265	rs17017235	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	4q22.1	MGC48628	rs17017235-T	NR	8E-6		4.473	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1286	chr4	92003896	92003897	rs6532271	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	4q22.1	FAM190A	rs6532271-?	NR	3E-6	(SF7)			Affymetrix [5476100] (imputed)	N
1287	chr4	92039006	92039007	rs6855885	25192705	Du M	2014-09-05	Cancer Epidemiol Biomarkers Prev	No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.	Colorectal cancer (calcium intake interaction)	9,006 European ancestry cases, 9,503 European ancestry controls	NA	4q22.1	FAM190A	rs6855885-A	0.5	2E-6	(Dietary calcium intake)	1.11	[1.06-1.16]	NR [~ 2700000] (imputed)	N
1289	chr4	92283770	92283771	rs4128705	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	4q22.1	KIAA1680	rs4128705-?		6E-6				Illumina [859311]	N
1290	chr4	92415528	92415529	rs11933531	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	4q22.1	FAM190A	rs11933531-A	0.04	3E-8	(KvDMR)			Illumina [515966]	N
1293	chr4	92917214	92917215	rs6853847	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q22.1	NR	rs6853847-C	0.0304513777282851	2E-6	(IGP24)	0.4788	[0.28-0.67] unit decrease	Illumina [~ 2500000] (imputed)	N
1293	chr4	92917214	92917215	rs6853847	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q22.1	NR	rs6853847-C	0.0304378588601959	5E-6	(IGP26)	0.4557	[0.26-0.65] unit decrease	Illumina [~ 2500000] (imputed)	N
1296	chr4	93321026	93321027	rs7666831	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q22.1	GRID2	rs7666831-A	0.0040	8E-6	(Free T3 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
1307	chr4	94759034	94759035	rs76049629	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q22.2	NR	rs76049629-G	NR	3E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1308	chr4	94887030	94887031	rs13130787	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	4q22.2	intergenic	rs13130787-?	0.43	3E-7		1.09	[1.06-1.13]	Affymetrix, Illumina [2708280] (imputed)	N
1309	chr4	95026433	95026434	rs3857067	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	4q22.2	SMARCAD1	rs3857067-A	0.457	1E-9		0.51	[0.35-0.67] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1310	chr4	95146134	95146135	rs11097407	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	4q22.3	NR	rs11097407-?	NR	4E-6		1.2498	[NR]	Affymetrix [722112]	N
1310	chr4	95153348	95153349	rs3106136	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	4q22.3	SMARCAD1	rs3106136-?	NR	7E-6				NR [~ 2000000]	N
1311	chr4	95207687	95207688	rs13135934	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	4q22.3	SMARCAD1	rs13135934-C	0.4	1E-10		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1311	chr4	95224811	95224812	rs17021463	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	4q22.3	SMARCAD1, HPGDS	rs17021463-T	0.42	1E-8		1.19	[1.12-1.26]	Illumina [NR]	N
1313	chr4	95476718	95476719	rs2452591	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	4q22.3	PDLIM5	rs2452591-A	0.3832	8E-6	(Ordinal I)	0.2693	[0.15-0.39] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1313	chr4	95514608	95514609	rs12500426	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	4q22.3	PDLIM5	rs12500426-?	0.46	1E-11		1.08	[1.05-1.12]	Illumina [541129]	N
1313	chr4	95516515	95516516	rs17336353	25089948	Theusch E	2014-10-01	Pharmacogenet Genomics	Ancestry and other genetic associations with plasma PCSK9 response to simvastatin.	Response to simvastatin treatment (PCSK9 protein level change)	562 European ancestry individuals	287 African American individuals	4q22.3	PDLIM5	rs17336353-G	0.19	5E-6	(EA)	0.151	[NR] unit increase	Illumina [570422]	N
1314	chr4	95562876	95562877	rs17021918	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	4q22.3	PDLIM5	rs17021918-?	0.65	4E-15		1.11	[1.08-1.15]	Illumina [541129]	N
1314	chr4	95594615	95594616	rs13133845	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	4q22.3	BMPR1B	rs13133845-?		6E-6				Illumina [859311]	N
1314	chr4	95614277	95614278	rs17022027	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	4q22.3	PDLIM5	rs17022027-C	0.94	9E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1314	chr4	95615768	95615769	rs4699587	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	4q22.3	NR	rs4699587-?	0.048	5E-7		1.763	[1.416-2.194] unit increase	Illumina [563945]	N
1314	chr4	95643956	95643957	rs10027628	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	4q22.3	NR	rs10027628-C	0.26	6E-6		1.81	[1.05-2.57] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1316	chr4	95834033	95834034	rs1859156	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	4q22.3	BMPR1B	rs1859156-?	0.79	2E-6		1.54	[NR]	Illumina [835136]	N
1316	chr4	95856680	95856681	rs10021303	22384028	Guo Y	2012-02-24	PLoS One	A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits.	Hypertension	315 Hong Kong Chinese ancestry individuals from 111 families	NA	4q22.3	NR	rs10021303-A	0.31	7E-6				Illumina [503984]	N
1318	chr4	96159816	96159817	rs12643654	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal P-tau181p levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	4q22.3	UNC5C	rs12643654-G	NR	5E-7	(AD)			Illumina [498205]	N
1320	chr4	96458432	96458433	rs10032931	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup-to-disc ratio)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	4q22.3	UNC5C	rs10032931-C	NR	4E-6		0.195	[0.10-0.29] unit decrease	Illumina [~ 2740000] (imputed)	N
1320	chr4	96467502	96467503	rs11097470	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q22.3	UNC5C	rs11097470-A	0.072	5E-6	(Energy balance )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1330	chr4	97727068	97727069	rs4626214	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q22.3	NR	rs4626214-G	NR	7E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1331	chr4	97880408	97880409	rs7694207	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (everolimus)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	4q22.3	MGC46496	rs7694207-?	NR	4E-6		0.28	[NR] unit increase	Affymetrix, Illumina [1348798]	N
1331	chr4	97882319	97882320	rs10015037	21775986	Hinch AG	2011-07-20	Nature	The landscape of recombination in African Americans.	Recombination measurement	30,033 African American individuals	NA	4q22.3	intergenic	rs10015037-?	0.83	2E-7	(Hotspot Usage)			Affymetrix, Illumina [3058149] (imputed)	N
1342	chr4	99337880	99337881	rs10516430	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	4q23	RAP1GDS1	rs10516430-A	0.28	6E-6	(triglycerides)	0.16	[0.09-0.23] mmol/L decrease	Illumina [316730]	N
1346	chr4	99796783	99796784	rs7665590	23000144	Nakamura M	2012-09-18	Am J Hum Genet	Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.	Primary biliary cirrhosis	487 Japanese ancestry cases, 476 Japanese ancestry controls	787 Japanese ancestry cases, 615 Japanese ancestry controls	4q23	NFKB1	rs7665590-G	NR	1E-7		1.35	[1.21-1.52]	Affymetrix [421245]	N
1347	chr4	99991641	99991642	rs7662987	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	4q23	NR	rs7662987-?	NR	9E-6	(females)			Illumina [1211988] (imputed)	N
1348	chr4	100011170	100011171	rs13132688	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q23	ADH5	rs13132688-A	0.0060	9E-6	(Diet carbohydrate )	0.02	[NR] %energy increase	Illumina [899892]	N
1348	chr4	100014804	100014805	rs2602836	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	4q23	ADH5	rs2602836-A	0.44	5E-8		0.019	[NR] unit increase	NR [NR] (imputed)	N
1348	chr4	100056997	100056998	rs3805322	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer  (alcohol interaction)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	4q23	ADH4	rs3805322-?	0.51	6E-7		1.23	[1.14-1.33]	NR [NR]	N
1348	chr4	100071923	100071924	rs17028615	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	4q23	ADH4	rs17028615-A	0.77	2E-15	(Hexadecanedioate)	0.19	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1348	chr4	100137493	100137494	rs6820368	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QRS duration	455 African American individuals	NA	4q23	ADH6	rs6820368-C		6E-6		9.9	[NR] ms increase	Illumina [> 930000]	N
1349	chr4	100163872	100163873	rs2201728	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	4q23	CXCL13	rs2201728-G	NR	5E-6	(Dichotomous variable)	3.13	[1.92-5]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1349	chr4	100224069	100224070	rs13132430	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	4q23	ADH5	rs13132430-A	0.01	1E-8		0.17	[0.11-0.23] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1349	chr4	100228465	100228466	rs1042026	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer  (alcohol interaction)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	4q23	ADH1B	rs1042026-?	0.22	3E-7		1.27	[1.16-1.38]	NR [NR]	N
1349	chr4	100239318	100239319	rs1229984	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		4q23	ADH1B	rs1229984-?	0.03	2E-8				Illumina [4058415] (imputed)	N
1349	chr4	100239318	100239319	rs1229984	23456092	Park BL	2013-03-01	Hum Genet	Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.	Alcohol dependence	117 Korean ancestry cases, 279 Korean ancestry controls	504 Korean ancestry cases, 471 Korean ancestry controls	4q23	ADH4, ADH1C, ADH6, ADH1A, ADH7, ADH1B, ADH5	rs1229984-?	NR	3E-21		2.35	[1.95-2.84]	Illumina [427349]	N
1349	chr4	100239318	100239319	rs1229984	21437268	McKay JD	2011-03-17	PLoS Genet	A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.	Upper aerodigestive tract cancers	2,091 European ancestry cases, 8,334 European ancestry controls	6,574 European ancestry cases, 7,892 European ancestry controls	4q23	ADH1B	rs1229984-T	0.94	1E-20		1.56	[1.41-1.69]	Illumina [294620]	N
1349	chr4	100239318	100239319	rs1229984	19698717	Cui R	2009-08-18	Gastroenterology	Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.	Esophageal cancer	182 Japanese ancestry cases, 927 Japanese ancestry controls	782 Japanese ancestry cases, 1,898 Japanese ancestry controls	4q23	ADH6, ADH1B	rs1229984-G	NR	8E-24		1.79	[1.69-1.88]	Illumina [359195]	N
1349	chr4	100250418	100250419	rs1789891	22004471	Frank J	2011-10-18	Addict Biol	Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.	Alcohol dependence	1,333 European ancestry male cases, 2,168 European ancestry male controls	NA	4q23	ADH1C, ADH1B	rs1789891-?	NR	1E-8		1.46	[1.28-1.67]	Illumina [463044]	N
1349	chr4	100250418	100250419	rs1789891	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	4q23	ADH1C	rs1789891-A	0.14	3E-6	(int, MW)	1.47	[NR] unit increase	Perlegen [429901]	N
1350	chr4	100272058	100272059	rs1662046	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	4q23	ADH1C	rs1662046-?		3E-6		0.451	[NR] unit increase	Illumina [5970354] (imputed)	N
1350	chr4	100274285	100274286	rs1789924	21437268	McKay JD	2011-03-17	PLoS Genet	A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.	Upper aerodigestive tract cancers	2,091 European ancestry cases, 8,334 European ancestry controls	6,574 European ancestry cases, 7,892 European ancestry controls	4q23	ADH1C	rs1789924-C	NR	3E-7		1.12	[1.07-1.17]	Illumina [294620]	N
1350	chr4	100295239	100295240	rs56279505	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	4q23	NR	rs56279505-?	NR	8E-7				Affymetrix [5486770] (imputed)	N
1350	chr4	100322444	100322445	rs991316	19609347	Adeyemo A	2009-07-17	PLoS Genet	A genome-wide association study of hypertension and blood pressure in African Americans.	Hypertension	509 African American cases, 508 African American controls	366 West African ancestry cases, 614 West African ancestry controls	4q23	ADH7	rs991316-T	0.45	5E-6		1.62	[NR]	Affymetrix [808465]	N
1350	chr4	100341860	100341861	rs971074	21437268	McKay JD	2011-03-17	PLoS Genet	A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.	Upper aerodigestive tract cancers	2,091 European ancestry cases, 8,334 European ancestry controls	6,574 European ancestry cases, 7,892 European ancestry controls	4q23	ADH7	rs971074-G	NR	9E-17		1.33	[1.25-1.43]	Illumina [294620]	N
1350	chr4	100395413	100395414	rs148915469	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders	543 European ancestry female cases, 1,116 European ancestry female controls	NA	4q23	C4orf17, ADH7	rs148915469-C	0.979	8E-6		0.279	[0.16-0.4] unit decrease	Illumina [6150213] (imputed)	N
1351	chr4	100444683	100444684	rs13126513	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	4q23	C4orf17	rs13126513-C		8E-6		0.285	unit increase	Illumina [5767231] (imputed)	N
1352	chr4	100539895	100539896	rs1032355	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	4q23	RG9MTD2, C4orf17, MTTP	rs1032355-C		5E-6				Illumina [944512] (imputed)	N
1353	chr4	100713764	100713765	rs11735070	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	4q23	intergenic	rs11735070-?	0.338	1E-6	(perphenazine-triglycerides)			Affymetrix [492900]	N
1358	chr4	101436200	101436201	rs1318710	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Food allergy	671 European ancestry child cases, 144 European ancestry non-allergic non-sensitized child controls, 234 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	4q24	EMCN	rs1318710-?	NR	3E-6				Illumina [6459842] (imputed)	N
1361	chr4	101806531	101806532	rs13107740	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	4q24	EMCN	rs13107740-G	NR	5E-6	(AA)	1.51	[0.78-2.24] unit decrease	Affymetrix [~ 2300000] (imputed)	N
1362	chr4	101901409	101901410	rs72927357	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	4q24	NR	rs72927357-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
1362	chr4	101931825	101931826	rs1405687	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	4q24	intergenic	rs1405687-?	0.088	5E-8	(ziprasidone-hip circumference)			Affymetrix [492900]	N
1363	chr4	102037718	102037719	rs2659546	21979947	Li X	2011-10-06	Hum Mol Genet	A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.	Corneal structure	222 European ancestry cases, 3,324 European ancestry controls	304 European ancestry cases, 518 European ancestry controls, 146 European ancestry cases and 161 European ancestry controls from 70 families	4q24	PPP3CA	rs2659546-?	NR	4E-6		1.63		Illumina [~ 290000]	N
1363	chr4	102048075	102048076	rs17030795	24514567	Boraska V	2014-02-11	Mol Psychiatry	A genome-wide association study of anorexia nervosa.	Anorexia nervosa	2,907 European ancestry cases, 14,860 European ancestry controls	2,677 European ancestry cases, 8,629 European ancestry controls, 458 Japanese ancestry cases, 421 Japanese ancestry controls	4q24	PPP3CA	rs17030795-G	0.192	6E-6		1.149	[1.082-1.220]	Illumina [1185559] (imputed)	N
1365	chr4	102276681	102276682	rs6845263	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Superior crus of antihelix expression	4,919 Latin American individuals	NA	4q24	NR	rs6845263-?	NR	8E-7	(FDR adjusted)			Illumina [671038]	N
1366	chr4	102402214	102402215	rs6846071	22788528	Kong M	2012-07-13	Int J Immunogenet	Genetic associations with C-reactive protein level and white blood cell count in the KARE study.	C-reactive protein and white blood cell count	8,722 individuals	NA	4q24	intergenic	rs6846071-G	0.016	1E-11	(CRP)	0.224	[NR] mg/dl increase	Affymetrix [1701735] (imputed)	N
1366	chr4	102432701	102432702	rs890448	24236485	Cornejo-Garcia JA	2013-11-01	Pharmacogenomics	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	112 European ancestry cases, 124 European ancestry controls, 120 Han Chinese ancestry cases, 101 Han Chinese ancestry controls	NA	4q24	NR	rs890448-?		8E-6				Affymetrix [up to 644046]	N
1367	chr4	102560289	102560290	rs17031508	22763476	Zhang D	2012-07-05	Hypertens Res	Genome-wide linkage and association scans for pulse pressure in Chinese twins.	Blood pressure	63 Chinese ancestry dizygotic twin pairs	NA	4q24	PPP3CA, BANK1	rs17031508-?	NR	8E-8				Affymetrix [~ 900000]	N
1367	chr4	102589282	102589283	rs7700191	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	4q24	BANK1	rs7700191-A		4E-6	(Modelling analysis)	1.12	[1.06-1.17]	NR [1252901] (imputed)	N
1368	chr4	102715887	102715888	rs4522865	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	4q24	BANK1	rs4522865-A	0.54	5E-6		1.3514		Illumina [2100739] (imputed)	N
1368	chr4	102751075	102751076	rs10516487	18204447	Kozyrev SV	2008-01-20	Nat Genet	Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.	Systemic lupus erythematosus	279 European ancestry cases, 515 European ancestry controls	1,757 European ancestry cases, 1,540 European ancestry controls	4q24	BANK1	rs10516487-G	0.77	4E-10		1.38	[1.25-1.53]	Affymetrix [85042]	N
1369	chr4	102841604	102841605	rs13119516	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q24	NR	rs13119516-A	NR	5E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1369	chr4	102865303	102865304	rs13126505	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q24	NR	rs13126505-A	0.06306	1E-10	(EA)	1.1371485	[1.1-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1369	chr4	102865303	102865304	rs13126505	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	4q24	intergenic	rs13126505-A	0.096	2E-12		1.172	[1.10-1.248]	Affymetrix, Illumina [1230000] (imputed)	N
1370	chr4	102926922	102926923	rs34592089	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q24	NR	rs34592089-?	NR	1E-15	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1371	chr4	103146889	103146890	rs35518360	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	4q24	SLC39A8	rs35518360-T	0.078	8E-15		1.166861	[1.12-1.21]	Affymetrix, Illumina [9005918] (imputed)	N
1372	chr4	103188708	103188709	rs13107325	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q24	NR	rs13107325-T	NR	2E-12		1.16	[NR]	Illumina [7158791] (imputed)	N
1372	chr4	103188708	103188709	rs13107325	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q24	SLC39A8	rs13107325-T	0.074	3E-9	(EA, men)	0.053	[0.035-0.07] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1372	chr4	103188708	103188709	rs13107325	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q24	SLC39A8	rs13107325-T	0.072	2E-12	(EA)	0.048	[0.034-0.061] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1372	chr4	103188708	103188709	rs13107325	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q24	SLC39A8	rs13107325-T	0.072	1E-12		0.047	[0.034-0.06] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1372	chr4	103188708	103188709	rs13107325	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q24	SLC39A8	rs13107325-T	0.071	3E-7	(EA, women)	0.045	[0.028-0.062] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1372	chr4	103188708	103188709	rs13107325	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	4q24	SLC39A8	rs13107325-T	0.08	1E-15		0.071	[NR] unit decrease	NR [NR] (imputed)	N
1372	chr4	103188708	103188709	rs13107325	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	4q24	SLC39A8	rs13107325-T	0.05	3E-14		0.981	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1372	chr4	103188708	103188709	rs13107325	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	4q24	SLC39A8	rs13107325-T	0.05	5E-7		0.105	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1372	chr4	103188708	103188709	rs13107325	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	4q24	SLC39A8	rs13107325-T	0.05	2E-17		0.684	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1372	chr4	103188708	103188709	rs13107325	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	4q24	SLC39A8	rs13107325-T	0.12	1E-10	(Mean Arterial Pressure)	0.633	[0.44-0.82] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1372	chr4	103188708	103188709	rs13107325	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	4q24	SLC39A8	rs13107325-T	0.07	2E-13		0.19	[0.11-0.27] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1372	chr4	103188708	103188709	rs13107325	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	4q24	SLC39A8	rs13107325-T	0.07	7E-11		0.84	[0.53-1.15] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1372	chr4	103198081	103198082	rs13135092	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	4q24	SLC39A8	rs13135092-A	0.97	3E-13		0.129	[0.094-0.164] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1372	chr4	103204844	103204845	rs233817	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	4q24	NR	rs233817-C	0.712	4E-6	(EA)	0.05	[0.028-0.072] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1373	chr4	103349739	103349740	rs6533014	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	4q24	LOC100133085, NFKB1	rs6533014-A	0.479	7E-6	(n-6 PUFA)			Affymetrix [590000]	N
1374	chr4	103434252	103434253	rs3774937	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q24	NR	rs3774937-G	0.3257	5E-14	(EA)	1.1043711	[1.08-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1374	chr4	103457417	103457418	rs230529	22479419	Liou YJ	2012-03-27	PLoS One	Genome-wide association study of treatment refractory schizophrenia in Han Chinese.	Schizophrenia (treatment resistant)	522 Han Chinese ancestry cases, 806 Han Chinese ancestry controls	273 Han Chinese ancestry cases	4q24	NFKB1	rs230529-T	0.47	2E-7		1.45	[1.26-1.66]	Affymetrix [694436]	N
1374	chr4	103511113	103511114	rs3774959	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	4q24	NFKB1, MANBA	rs3774959-A	0.358	4E-12		1.118	[1.077-1.159]	Affymetrix, Illumina [1230000] (imputed)	N
1375	chr4	103551602	103551603	rs7665090	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	4q24	NFKB1	rs7665090-C	0.52	4E-12		1.26	[1.18-1.34]	Illumina [507467]	N
1375	chr4	103578636	103578637	rs228614	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	4q24	NFKB1, MANBA	rs228614-G	NR	1E-7		1.09	[1.07-1.1]	Illumina [465434]	N
1378	chr4	103975059	103975060	rs7688014	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q24	NR	rs7688014-C	NR	3E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1378	chr4	104054685	104054686	rs2720460	25877299	Kristiansen W	2015-04-15	Hum Mol Genet	Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.	Testicular germ cell tumor	1,326 European ancestry cases, 6,687 European ancestry controls	710 European ancestry case-parent triads, 289 European ancestry cases, 290 European ancestry controls	4q24	CENPE	rs2720460-A	0.594	6E-12		1.32	[NR]	Illumina [610240]	N
1378	chr4	104054685	104054686	rs2720460	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	4q24	CENPE	rs2720460-A	0.61	2E-10		1.24	[1.12-1.36]	Illumina [307291]	N
1379	chr4	104137789	104137790	rs4699052	19483681	Rapley EA	2009-05-31	Nat Genet	A genome-wide association study of testicular germ cell tumor.	Testicular germ cell tumor	730 cases, 1,435 controls	571 cases, 1,806 controls	4q24	intergenic	rs4699052-C	0.61	2E-7		1.21	[1.05-1.39]	Illumina [307666]	N
1383	chr4	104641102	104641103	rs3733631	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	4q24	TACR3	rs3733631-C	0.15	5E-13		0.05	[0.036-0.064] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1385	chr4	104920478	104920479	rs41427747	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q24	NR	rs41427747-?	NR	6E-7		0.3337	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1389	chr4	105450084	105450085	rs2905627	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q24	NR	rs2905627-T	NR	5E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1392	chr4	105844272	105844273	rs10005603	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	4q24	NR	rs10005603-?	0.65	7E-6		1.2	[1.11-1.25]	Affymetrix [> 333754] (imputed)	N
1394	chr4	106048359	106048360	rs1541374	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	4q24	TET2	rs1541374-T	NR	6E-7	(FEV1)	0.026	[0.016-0.036] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1394	chr4	106061533	106061534	rs7679673	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	4q24	NR	rs7679673-C	0.59	5E-8		1.12	[1.07-1.16]	Affymetrix [up to 19977088] (imputed)	N
1394	chr4	106061533	106061534	rs7679673	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	4q24	TET2	rs7679673-C	0.58	4E-9		1.12	[1.08-1.16]	Illumina [1531807] (imputed)	N
1394	chr4	106061533	106061534	rs7679673	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	4q24	TET2	rs7679673-?	0.55	3E-14		1.1	[1.06-1.14]	Illumina [541129]	N
1394	chr4	106075497	106075498	rs2189234	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q24	intergenic	rs2189234-A	0.3692	2E-10	(EA)	1.0847058	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1394	chr4	106075497	106075498	rs2189234	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q24	NR	rs2189234-A	0.3692	4E-7	(EA)	1.0531957	[1.03-1.07]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1394	chr4	106084777	106084778	rs9790517	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	4q24	TET2	rs9790517-T	0.23	4E-8		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1394	chr4	106106352	106106353	rs10010325	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q24	NR	rs10010325-?	NR	2E-11	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1394	chr4	106106352	106106353	rs10010325	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4q24	TET2	rs10010325-A	0.49	4E-11		0.024	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1394	chr4	106134315	106134316	rs6855629	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	4q24	KIAA1546	rs6855629-G	0.63	2E-8		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1394	chr4	106139386	106139387	rs4698934	24980573	Song F	2014-06-30	Carcinogenesis	Identification of a melanoma susceptibility locus and somatic mutation in TET2.	Melanoma	494 European ancestry cases, 5,628 European ancestry controls	5,383 European ancestry cases, 13,033 European ancestry controls	4q24	TET2	rs4698934-?		8E-7		1.18	[1.10-1.25]	Affymetrix, Illumina [1579307] (imputed)	N
1395	chr4	106196950	106196951	rs2454206	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4q24	TET2	rs2454206-A	0.79	6E-9		0.027	[0.013-0.041] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1395	chr4	106268593	106268594	rs2647264	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	4q24	TET2, PPA2	rs2647264-G	NR	9E-6		0.165	[0.092-0.238] unit increase	Affymetrix [736996]	N
1395	chr4	106297512	106297513	rs2636697	23241943	Clark SL	2012-12-12	Pharmacogenet Genomics	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	Response to antipsychotic treatment	Up to 421 European ancestry Schizophrenia cases, up to 214 African American individuals, up to 103 individuals	NA	4q24	PPA2	rs2636697-G	0.038	4E-7	(Effect of Risperidone on CGI-S)			Affymetrix [492900]	N
1397	chr4	106451310	106451311	rs12499086	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	4q24	intergenic	rs12499086-G	NR	2E-6		0.129	[0.076-0.182] unit decrease	Illumina [628922]	N
1397	chr4	106457329	106457330	rs7669317	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	4q24	intergenic	rs7669317-?	NR	8E-8	(AIMS)			Affymetrix [492000]	N
1397	chr4	106463712	106463713	rs11730243	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	4q24	intergenic	rs11730243-T	NR	2E-6		0.129	[0.076-0.182] unit increase	Illumina [628922]	N
1398	chr4	106578753	106578754	rs1982346	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second)	1,015 European ancestry individuals, 541 African American individuals	NA	4q24	GSTCD, INTS12	rs1982346-?	NR	1E-7				Illumina [up to 524000]	N
1398	chr4	106619139	106619140	rs11727189	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	4q24	GSTCD, INTS12, NPNT, FLJ20184	rs11727189-T	0.06	5E-17	(FEV1)	64.7	[NR] ml increase	Affymetrix, Illumina [2534500] (imputed)	N
1398	chr4	106688903	106688904	rs10516526	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	4q24	GSTCD	rs10516526-G	0.06	2E-23	(FEV1)	0.089	[0.071-0.107] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1399	chr4	106808106	106808107	rs17331332	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	4q24	GSTCD, INTS12, NPNT	rs17331332-?	NR	1E-16	(FEV1, Ever-smoking)			NR [~ 2500000] (imputed)	N
1401	chr4	107000461	107000462	rs11097912	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	4q24	MGC16169	rs11097912-?	0.67	6E-6	(smokers)	1.18		Affymetrix, Illumina [up to 2500000] (imputed)	N
1409	chr4	108115221	108115222	rs10516541	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Mean forced vital capacity from 2 exams	Up to 1,222 individuals	NA	4q25	intergenic	rs10516541-?	NR	4E-6	(meanFVC)			Affymetrix [70897]	N
1411	chr4	108304198	108304199	rs7680468	24478790	Lee JH	2014-01-17	Front Genet	Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.	Telomere length	4,829 European ancestry individuals from 586 families with exceptional longevity	NA	4q25	DKK2, PAPSS1	rs7680468-T	0.029	5E-8			[NR]	Illumina [9250000] (imputed)	N
1416	chr4	108959281	108959282	rs6851442	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	4q25	HADH	rs6851442-?		3E-6				Illumina [859311]	N
1416	chr4	109016823	109016824	rs898518	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	4q25	LEF1	rs898518-A	0.59	4E-10		1.2	[1.14-1.27]	Illumina [549934]	N
1416	chr4	109046959	109046960	rs956237	22291604	Okada Y	2012-01-26	PLoS Genet	A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese.	Systemic lupus erythematosus	891 Japanese ancestry cases, 3,384 Japanese ancestry controls	1,387 Japanese ancestry cases, 28,564 Japanese ancestry controls	4q25	LEF1	rs956237-A	0.33	2E-6		1.18	[1.10-1.26]	Illumina [430797]	N
1418	chr4	109217928	109217929	rs13144621	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	4q25	LEF1	rs13144621-?	0.68	1E-6	(All)	1.16		Affymetrix, Illumina [up to 2500000] (imputed)	N
1419	chr4	109408607	109408608	rs1562975	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4q25	RPL34	rs1562975-A	0.301	6E-15		0.025	[0.019-0.031] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1421	chr4	109628024	109628025	rs10029851	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	4q25	AGXT2L1	rs10029851-?		1E-7				Illumina [859311]	N
1422	chr4	109723125	109723126	rs4956211	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	4q25	COL25A1	rs4956211-A	0.35	1E-6	(anti-dsDNA +)	1.33	[1.19-1.48]	Illumina [421318] (imputed)	N
1423	chr4	109880729	109880730	rs17039583	21688384	Wang	2011-06-17	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of age at onset in schizophrenia in a European-American sample	Schizophrenia (age at onset)	1,162 European ancestry cases	1,068 European ancestry cases	4q25	COL25A1	rs17039583-?	NR	4E-6		2.431	[NR] unit increase	Affymetrix [722112]	N
1424	chr4	109979130	109979131	rs3096490	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index	2,763 Bangladeshi ancestry females, 2,591 Bangladeshi ancestry males	NA	4q25	COL25A1	rs3096490-G	0.529	5E-7		0.317	[0.19-0.44] kg/m2 increase	Illumina [1208102] (imputed)	N
1428	chr4	110590478	110590479	rs4698775	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	4q25	CFI	rs4698775-G	0.31	7E-11		1.14	[1.10-1.17]	Affymetrix, Illumina [2442884] (imputed)	N
1429	chr4	110638809	110638810	rs2285714	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	4q25	CFI	rs2285714-T	0.395	3E-7		1.31	[1.18-1.45]	Illumina [~ 2500000] (imputed)	N
1429	chr4	110659066	110659067	rs10033900	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	4q25	CFI	rs10033900-T	.463	4E-6		1.32	[1.17-1.48]	Affymetrix, Illumina [6036699] (imputed)	N
1429	chr4	110659066	110659067	rs10033900	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	4q25	CF1	rs10033900-T	0.463	6E-9		1.31	[1.19-1.44]	Affymetrix, Illumina [6036699] (imputed)	N
1429	chr4	110659066	110659067	rs10033900	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	4q25	CFI	rs10033900-T	0.46	4E-10		1.18	[NR]	Affymetrix [6036699] (imputed)	N
1429	chr4	110659066	110659067	rs10033900	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	4q25	CFI	rs10033900-?	NR	9E-9				Affymetrix [632932]	N
1429	chr4	110727559	110727560	rs4698790	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	4q25	CFI, NOLA1	rs4698790-T	0.279	5E-6	(Protein (control))			Affymetrix [590000]	N
1429	chr4	110727559	110727560	rs4698790	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	4q25	CFI, NOLA1	rs4698790-T	0.279	9E-6	(Protein (control))			Affymetrix [590000]	N
1430	chr4	110800096	110800097	rs6847149	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Exercise treadmill test traits	Up to 1,238 European ancestry individuals	NA	4q25	NOLA1	rs6847149-?	NR	3E-6	(S2EHR)			Affymetrix [70897]	N
1430	chr4	110825633	110825634	rs17316633	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	4q25	EGF	rs17316633-A	NR	9E-6				Illumina [~ 1000000] (imputed)	N
1431	chr4	110897584	110897585	rs11568995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q25	NR	rs11568995-G	0.9884981	5E-6	(IGP9)	1.6228	[0.93-2.32] unit decrease	Illumina [~ 2500000] (imputed)	N
1431	chr4	110897584	110897585	rs11568995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q25	NR	rs11568995-G	0.9884981	4E-7	(IGP49)	1.802	[1.11-2.5] unit decrease	Illumina [~ 2500000] (imputed)	N
1431	chr4	110897584	110897585	rs11568995	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q25	NR	rs11568995-G	0.9883953	1E-6	(IGP68)	1.7191	[1.02-2.41] unit decrease	Illumina [~ 2500000] (imputed)	N
1431	chr4	110964361	110964362	rs10012953	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q25	ELOVL6	rs10012953-G	0.164	3E-6	(Adiponectin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1432	chr4	111026926	111026927	rs10011926	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	4q25	ELOVL6	rs10011926-?	0.78	8E-6		1.49	[NR]	Illumina [835136]	N
1433	chr4	111227815	111227816	rs13148252	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q25	NR	rs13148252-G	0.745779246105919	6E-6	(IGP8)	0.171	[0.097-0.245] unit decrease	Illumina [~ 2500000] (imputed)	N
1434	chr4	111334729	111334730	rs2087160	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	4q25	ENPEP	rs2087160-G	0.207	7E-13	(SM-12 + 1 other trait)	0.124	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1434	chr4	111381637	111381638	rs6825911	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	4q25	ENPEP	rs6825911-C	0.51	9E-9	(Diastolic)	0.39	[0.25-0.53] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1434	chr4	111381637	111381638	rs6825911	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	4q25	ENPEP	rs6825911-C	0.51	7E-8	(Systolic)	0.6	[0.38-0.82] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1437	chr4	111699325	111699326	rs12646447	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Ischemic stroke	12,389 cases, 62,004 controls	NA	4q25	PITX2	rs12646447-C	NR	3E-8		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1437	chr4	111705767	111705768	rs6817105	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	4q25	PITX2	rs6817105-C	0.13	2E-74		1.64	[1.55-1.73]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1437	chr4	111708286	111708287	rs17042171	19597492	Benjamin EJ	2009-07-13	Nat Genet	Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.	Atrial fibrillation	3,413 cases, 37,105 referents	2,145 cases, 4,073 controls	4q25	PITX2	rs17042171-A	0.12	4E-63		1.65		Affymetrix, Illumina [~ 2500000] (imputed)	N
1437	chr4	111710168	111710169	rs2200733	19597491	Gudbjartsson DF	2009-07-13	Nat Genet	A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke.	Atrial fibrillation	2,385 European ancestry cases, 33,752 European ancestry controls	up to 2,427 European ancestry cases, 3,379 European ancestry controls, 286 Han Chinese ancestry cases, 2,763 Han Chinese ancestry controls	4q25	intergenic	rs2200733-?	0.12	1E-14		1.42	[NR]	Illumina [303136]	N
1437	chr4	111710168	111710169	rs2200733	18991354	Gretarsdottir S	2008-10-01	Ann Neurol	Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke.	Stroke (ischemic)	1,661 European ancestry cases, 10,815 European ancestry controls	4,576 European ancestry cases, 19,343 European ancestry controls	4q25	NR	rs2200733-T	0.11	2E-10		1.26	[1.17-1.35]	Illumina [310881]	N
1437	chr4	111710168	111710169	rs2200733	17603472	Gudbjartsson DF	2007-07-01	Nature	Variants conferring risk of atrial fibrillation on chromosome 4q25.	Atrial fibrillation/atrial flutter	550 European ancestry cases, 4,476 European ancestry controls	3,030 European ancestry cases, 14,780 European ancestry controls, 333 Han Chinese ancestry cases, 2,836 Han Chinese ancestry controls	4q25	PITX2, ENPEP	rs2200733-T	0.11	3E-41		1.72	[1.59-1.86]	Illumina [316515]	N
1437	chr4	111718066	111718067	rs6843082	23041239	Traylor M	2012-10-05	Lancet Neurol	Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.	Stroke (ischemic)	12,389 European ancestry cases, 62,004 European ancestry controls	1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls	4q25	PITX2	rs6843082-G	0.21	3E-16	(CS)	1.36	[1.27-1.47]	Affymetrix, Illumina [NR] (imputed)	N
1437	chr4	111718066	111718067	rs6843082	23041239	Traylor M	2012-10-05	Lancet Neurol	Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.	Stroke (ischemic)	12,389 European ancestry cases, 62,004 European ancestry controls	1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls	4q25	PITX2	rs6843082-G	0.21	2E-7	(IS)	1.11	[1.06-1.15]	Affymetrix, Illumina [NR] (imputed)	N
1437	chr4	111718066	111718067	rs6843082	20173747	Ellinor PT	2010-02-21	Nat Genet	Common variants in KCNN3 are associated with lone atrial fibrillation.	Atrial fibrillation	1,335 European ancestry cases, 12,844 European ancestry controls	1,164 European ancestry cases, 3,607 European ancestry controls	4q25	PITX2	rs6843082-G	0.26	3E-28		2.03	[1.79-2.30]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1437	chr4	111720760	111720761	rs10033464	17603472	Gudbjartsson DF	2007-07-01	Nature	Variants conferring risk of atrial fibrillation on chromosome 4q25.	Atrial fibrillation/atrial flutter	550 European ancestry cases, 4,476 European ancestry controls	3,030 European ancestry cases, 14,780 European ancestry controls, 333 Han Chinese ancestry cases, 2,836 Han Chinese ancestry controls	4q25	PITX2, ENPEP	rs10033464-T	0.08	7E-11		1.39	[1.26-1.53]	Illumina [316515]	N
1437	chr4	111734135	111734136	rs3853444	24778558	Domarkiene I	2013-12-01	Balkan J Med Genet	RTN4 and FBXL17 Genes are Associated with Coronary Heart Disease in Genome-Wide Association Analysis of Lithuanian Families.	Coronary heart disease	31 European ancestry cases and 63 European ancestry controls from 32 families	NA	4q25	intergenic	rs3853444-G	NR	5E-6		7.69	[2.70-20.0]	Illumina [646445]	N
1440	chr4	112120657	112120658	rs7690819	25317111	Seo I	2014-09-30	Genomics Inform	Genome-wide association study of medication adherence in chronic diseases in the korean population.	Medication adherence in chronic diseases	155 Korean ancestry medication non-adherent diabetes cases, 80 Korean ancestry medication non-adherent hypertensive cases, 240 Korean ancestry medication adherent diabetes cases, 827 Korean ancestry medication adherent hypertensive cases	NA	4q25	LYPLA1P2	rs7690819-G	0.521	1E-6		1.63	[1.34-2.00]	NR [349184]	N
1444	chr4	112611749	112611750	rs10034228	21505071	Li Z	2011-04-19	Hum Mol Genet	A genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population.	Myopia (pathological)	102 Han Chinese ancestry cases, 335 Han Chinese ancestry controls	2,891 Han Chinese ancestry cases, 10,071 Han Chinese ancestry controls	4q25	MYP11	rs10034228-?	0.50	8E-13		1.23	[1.16-1.32]	Affymetrix [681783]	N
1444	chr4	112702634	112702635	rs1585471	21505071	Li Z	2011-04-19	Hum Mol Genet	A genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population.	Myopia (pathological)	102 Han Chinese ancestry cases, 335 Han Chinese ancestry controls	2,891 Han Chinese ancestry cases, 10,071 Han Chinese ancestry controls	4q25	MYP11	rs1585471-?	0.50	2E-6		1.15	[1.09-1.22]	Affymetrix [681783]	N
1446	chr4	112923236	112923237	rs17589290	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Hypertension	4,069 African American cases, 3,848 African American controls	1,372 African American cases, 1,482 African American controls	4q25	intergenic	rs17589290-?	0.04	6E-6		1.4285715	[1.22-1.67]	Affymetrix [~ 2740000] (imputed)	N
1449	chr4	113311789	113311790	rs4833407	22484627	Bradfield JP	2012-04-08	Nat Genet	A genome-wide association meta-analysis identifies new childhood obesity loci.	Obesity	5,530 European ancestry cases, 8,318 European ancestry controls	2,214 European ancestry cases, 2,674 European ancestry controls	4q25	ALPK1	rs4833407-?	NR	1E-6		1.111	[1.065-1.160]	Affymetrix, Illumina [2700000] (imputed)	N
1449	chr4	113328077	113328078	rs6838440	21799462	Srinivasan Y	2011-07-27	Pharmacogenet Genomics	Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.	Epirubicin-induced leukopenia	67 Japanese ancestry cases, 203 Japanese ancestry controls	48 Japanese ancestry cases	4q25	ALPK1	rs6838440-C	0.51	3E-6		2.1	[1.49-2.96]	Illumina [478359]	N
1451	chr4	113544151	113544152	rs6834538	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Free thyroxine concentration	2,789 Korean ancestry individuals	829 Korean ancestry individuals	4q25	C4orf21	rs6834538-T	0.03	5E-6		0.296	[0.17-0.42] ng/dl decrease	Affymetrix [1418709] (imputed)	N
1453	chr4	113855476	113855477	rs12500579	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	4q25	ANK2	rs12500579-G	0.06	8E-8		0.194	[0.12-0.26] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
1453	chr4	113855476	113855477	rs12500579	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	4q25	ANK2	rs12500579-G	0.01	5E-13	(EA)	0.42	[0.31-0.53] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
1454	chr4	113948789	113948790	rs10014072	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Cu levels)	2,603 European ancestry individuals	NA	4q25	ANK2	rs10014072-?	NR	1E-6		0.164	[0.097-0.231] unit increase	Illumina [> 2500000] (imputed)	N
1454	chr4	114000955	114000956	rs7694725	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	4q25	ANK2	rs7694725-?	NR	2E-6	(rs10086908)	1.36	[1.20-1.55]	Affymetrix, Illumina [1117531] (imputed)	N
1457	chr4	114379378	114379379	rs1880529	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity (interaction)	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	4q26	CAMK2D	rs1880529-?	0.43	4E-6				Illumina [565404]	N
1458	chr4	114546703	114546704	rs10023113	25145502	Tang S	2014-08-22	Ann Surg Oncol	Genome-wide Association Study of Survival in Early-stage Non-Small Cell Lung Cancer.	Non-small cell lung cancer (survival)	354 Han Chinese ancestry cases	327 Han Chinese ancestry cases	4q26	CAMK2D	rs10023113-A	NR	3E-7		2.3	[1.67-3.17]	Affymetrix [589102]	N
1459	chr4	114683843	114683844	rs6858698	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	4q26	CAMK2D	rs6858698-C		3E-9		1.31	[1.20-1.44]	Illumina [450000] (imputed)	N
1465	chr4	115398199	115398200	rs1870653	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	4q26	NR	rs1870653-?	NR	8E-6		12.67	[7.34-18] unit decrease	Illumina [498648]	N
1471	chr4	116196305	116196306	rs13144478	22843503	Qi Q	2012-07-26	Hum Mol Genet	Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.	Resistin levels	3,248 European ancestry individuals	659 European ancestry individuals	4q26	NDST4	rs13144478-T	0.09	6E-18		0.13	[0.091-0.169] unit increase	Affymetrix, Illumina [2543887] (imputed)	N
1476	chr4	116841323	116841324	rs7668874	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	4q26	intergenic	rs7668874-?		6E-6				NR [~ 3000000] (imputed)	N
1477	chr4	116924183	116924184	rs17586843	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	4q26	intergenic	rs17586843-T	0.78	2E-6	(EA)	1.18	[1.10-1.27]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1477	chr4	116934078	116934079	rs7676999	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	4q26	intergenic	rs7676999-?	0.79	1E-6		1.19	[1.11-1.28]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1479	chr4	117254288	117254289	rs2389202	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	4q26	intergenic	rs2389202-?	0.13	4E-7	(Recessive)	1.43	[1.25-1.65]	Affymetrix [319222]	N
1484	chr4	117849448	117849449	rs2389339	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q26	NR	rs2389339-G	0.790576647349506	3E-6	(IGP60)	0.18	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1484	chr4	117849448	117849449	rs2389339	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q26	NR	rs2389339-G	0.790110045780969	2E-6	(IGP46)	0.1846	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1484	chr4	117875260	117875261	rs1440306	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	4q26	TRAM1L1, NDST4	rs1440306-A	0.75	1E-6	(Dominant model)	1.3699	[NR]	Illumina [1795103]	N
1485	chr4	118035558	118035559	rs114452217	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	4q26	NR	rs114452217-?		1E-7	(PCB194)	1.27	[0.8-1.74] unit decrease	Illumina [8736858] (imputed)	N
1485	chr4	118079906	118079907	rs10516635	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	4q26	TRAM1L1	rs10516635-A	0.11	8E-6	(Overall)			Affymetrix, Illumina [2500000] (imputed)	N
1485	chr4	118093136	118093137	rs10433903	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	4q26	TRAM1L1	rs10433903-T	0.66	3E-6		1.33	[1.19-1.52]	Illumina [457251]	N
1487	chr4	118332254	118332255	rs4318720	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	4q26	intergenic	rs4318720-A	0.09	8E-7		0.28	[0.16-0.40] unit increase	Illumina [~ 318327]	N
1487	chr4	118334618	118334619	rs6828740	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Erythema nodosum in inflammatory bowel disease	103 European ancestry cases, 5,653 European ancestry controls	NA	4q26	intergenic	rs6828740-C	NR	5E-8		4.14	[2.50-6.90]	Illumina [2017629] (imputed)	N
1490	chr4	118644820	118644821	rs35553880	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	4q26	NR	rs35553880-T	NR	8E-6		1.25	[NR]	Illumina [up to 9792010] (imputed)	N
1490	chr4	118646906	118646907	rs11098403	24253340	Lencz T	2013-11-19	Nat Commun	Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder.	Schizophrenia	904 Ashkenazi Jewish cases, 1,640 Ashkenazi Jewish controls	3,944 European ancestry cases, 3,049 European ancestry controls, 921 African American cases, 954 African American controls, 550 Japanese ancestry cases, 530 Japanese ancestry controls	4q26	NDST3	rs11098403-G	NR	3E-8		1.15	[1.08-1.21]	Illumina [762372]	N
1490	chr4	118651822	118651823	rs4422476	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	4q26	AC109592.1, AC092661.1	rs4422476-?	NR	8E-6				Illumina [874956]	N
1491	chr4	118844798	118844799	rs147897924	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q26	NR	rs147897924-C	NR	2E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1491	chr4	118878132	118878133	rs6838310	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	4q26	intergenic	rs6838310-?	NR	9E-7		0.029	[0.017-0.041] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
1496	chr4	119427956	119427957	rs28580297	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	4q26	CEP170P1	rs28580297-?	NR	9E-6		1.46	[0.81-2.11] unit decrease	Illumina [1075436] (imputed)	N
1498	chr4	119691623	119691624	rs4834703	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	4q26	SEC24D	rs4834703-?	NR	7E-6		1.98	[1.47-2.66]	Illumina [534390]	N
1498	chr4	119704500	119704501	rs6828577	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	4q26	SEC24D	rs6828577-A,rs6822035-A	0.287	9E-6		1.65	[1.33-2.06]	Illumina [534390]	N
1498	chr4	119710420	119710421	rs6822035	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	4q26	SEC24D	rs6828577-A,rs6822035-A	0.287	9E-6		1.65	[1.33-2.06]	Illumina [534390]	N
1498	chr4	119710420	119710421	rs6822035	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	4q26	SEC24D	rs6822035-A,rs10518325-A	0.236	6E-7		1.87	[1.46-2.39]	Illumina [534390]	N
1498	chr4	119717633	119717634	rs10518325	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	4q26	SEC24D	rs6822035-A,rs10518325-A	0.236	6E-7		1.87	[1.46-2.39]	Illumina [534390]	N
1499	chr4	119863475	119863476	rs1472066	23967269	Kim JH	2013-08-13	PLoS One	A genome-wide association study of total serum and mite-specific IgEs in asthma patients.	IgE levels in asthmatics	877 Korean ancestry cases	NA	4q26	SYNPO2	rs1472066-?		8E-6				Illumina [442089]	N
1500	chr4	119949959	119949960	rs17329882	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	4q26	SYNPO2	rs17329882-?	NR	2E-8	(Serous)	1.11	[1.07-1.16]	Illumina [up to 10962898] (imputed)	N
1500	chr4	119949959	119949960	rs17329882	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	4q26	SYNPO2	rs17329882-?	NR	2E-8		1.09	[1.06-1.13]	Illumina [up to 10962898] (imputed)	N
1500	chr4	119951646	119951647	rs7698598	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	4q26	SYNPO2	rs7698598-?		2E-6				Illumina [859311]	N
1501	chr4	120187610	120187611	rs11098499	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		4q26	NR	rs11098499-C		9E-6		0.048	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1502	chr4	120265258	120265259	rs10028773	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	4q26	intergenic	rs10028773-C	0.675	7E-6		0.02	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1505	chr4	120612717	120612718	rs2583612	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	4q26	NR	rs2583612-?		7E-6				Affymetrix, Illumina [1348798]	N
1507	chr4	120962384	120962385	rs1845344	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	4q27	MAD2L1	rs1845344-T	0.27	7E-6		0.97	[0.56-1.38] unit increase	Illumina [660740]	N
1508	chr4	121041285	121041286	rs1493682	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	4q27	MAD2L1	rs1493682-?	NR	6E-6				Illumina [990115]	N
1512	chr4	121513214	121513215	rs10017284	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	4q27	PRDM5	rs10017284-G	0.43	6E-6		0.85	[0.50-1.20] unit decrease	Illumina [660740]	N
1514	chr4	121801789	121801790	rs180730	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Fasting plasma glucose	1,027 individuals	NA	4q27	PRDM5	rs180730-?	NR	6E-6	(tFPG)			Affymetrix [70897]	N
1514	chr4	121801789	121801790	rs180730	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Fasting plasma glucose	1,027 individuals	NA	4q27	PRDM5	rs180730-?	NR	5E-6	(FPG)			Affymetrix [70897]	N
1514	chr4	121862500	121862501	rs10018902	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q27	PRDM5	rs10018902-A	0.0080	1E-6	(Weight z-score change )	0.04	[NR] SD/y increase	Illumina [899892]	N
1516	chr4	122106292	122106293	rs17051310	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	4q27		rs17051310-?,rs13116936-?	NR	2E-6	(Haplotype-?????)			Illumina [1006480]	N
1516	chr4	122110974	122110975	rs921551	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	4q27		rs921551-?,rs4455437-?	NR	2E-6	(Haplotype-?????)			Illumina [1006480]	N
1516	chr4	122121493	122121494	rs17435444	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	4q27	TNIP3	rs17435444-?,rs13116936-?	0.64	3E-7	(Haplotype - AG)	1.23	[1.13-1.33]	Illumina [1006480]	N
1516	chr4	122121493	122121494	rs17435444	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	4q27		rs17435444-?,rs6835704-?	NR	2E-6	(Haplotype-?????)			Illumina [1006480]	N
1516	chr4	122126807	122126808	rs13116936	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	4q27	TNIP3	rs17435444-?,rs13116936-?	0.64	3E-7	(Haplotype - AG)	1.23	[1.13-1.33]	Illumina [1006480]	N
1516	chr4	122126807	122126808	rs13116936	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	4q27		rs17051310-?,rs13116936-?	NR	2E-6	(Haplotype-?????)			Illumina [1006480]	N
1516	chr4	122136762	122136763	rs4455437	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	4q27		rs921551-?,rs4455437-?	NR	2E-6	(Haplotype-?????)			Illumina [1006480]	N
1516	chr4	122143663	122143664	rs6835704	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	4q27		rs17435444-?,rs6835704-?	NR	2E-6	(Haplotype-?????)			Illumina [1006480]	N
1518	chr4	122314039	122314040	rs7679475	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	4q27	GPR103	rs7679475-A	NR	4E-10		1.6198		Illumina [514008]	N
1520	chr4	122607177	122607178	rs55645543	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	4q27	ANXA5	rs55645543-C	0.02	5E-7		0.228	unit increase	Illumina [~ 6300000] (imputed)	N
1520	chr4	122665513	122665514	rs7659604	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	(see Zeggini 2007)	4q27	NR	rs7659604-T	0.38	9E-6		1.35	[1.19-1.54]	Affymetrix [469557]	N
1522	chr4	122921044	122921045	rs17643636	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q27	NR	rs17643636-?	NR	2E-6	(Native Hawaiian)	1.1347	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1523	chr4	122949326	122949327	rs10016562	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	4q27	TRPC3	rs10016562-T	NR	1E-6	(Perc15, All)	1.6	[0.62-2.58] unit increase	Illumina [7600000] (imputed)	N
1523	chr4	122950068	122950069	rs13140744	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	4q27	TRPC3	rs13140744-T	NR	9E-7	(Perc15, Cases)	2.2	[0.95-3.45] unit decrease	Illumina [7600000] (imputed)	N
1523	chr4	123010586	123010587	rs13132933	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	4q27	RN7SL335P	rs13132933-?	NR	1E-7	(Atopic dermatitis)			Affymetrix, Illumina [~ 5200000]	N
1524	chr4	123115501	123115502	rs13151961	24999842	Garner C	2014-07-07	PLoS One	Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.	Celiac disease	1,550 European ancestry cases, 3,084 European ancestry controls	NA	4q27	IL2, ADAD1, KIAA1109, IL21	rs13151961-?		3E-11		1.54	[1.37-1.75]	Illumina [517345]	N
1524	chr4	123115501	123115502	rs13151961	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	4q27	IL2, IL21	rs13151961-?	0.86	2E-27		1.35	[1.28-1.43]	Illumina [292387]	N
1524	chr4	123132491	123132492	rs4505848	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	4q27	IL2	rs4505848-?	NR	5E-13				Affymetrix, Illumina [841622] (imputed)	N
1524	chr4	123161618	123161619	rs7657746	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q27	NR	rs7657746-A	0.76	5E-10	(EA)	1.0973365		Affymetrix, Illumina [~ 9000000] (imputed)	N
1524	chr4	123161618	123161619	rs7657746	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q27	NR	rs7657746-A	0.76	2E-13	(EA)	1.0907376		Affymetrix, Illumina [~ 9000000] (imputed)	N
1524	chr4	123161618	123161619	rs7657746	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	4q27	NR	rs7657746-G	0.76	2E-9	(EA)	1.0890222		Affymetrix, Illumina [~ 9000000] (imputed)	N
1524	chr4	123161618	123161619	rs7657746	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	4q27	IL2, IL21	rs7657746-A	0.753	3E-13		1.116	[1.08-1.154]	Affymetrix, Illumina [1230000] (imputed)	N
1524	chr4	123198434	123198435	rs6534347	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	4q27	NR	rs6534347-A	0.35	2E-6		1.3	[1.10-1.55]	Affymetrix [469557]	N
1525	chr4	123218312	123218313	rs13119723	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	4q27	IL2, IL21	rs13119723-A	0.15	7E-7		1.12	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1525	chr4	123256164	123256165	rs45616239	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	4q27	KIAA1109	rs45616239-?	NR	1E-6	(Shared)			Affymetrix, Illumina [~ 5200000]	N
1525	chr4	123329361	123329362	rs17388568	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	4q27	ADAD1	rs17388568-A	0.2748	4E-8		0.0727	[0.047-0.099] unit increase	Illumina [2400000] (imputed)	N
1525	chr4	123329361	123329362	rs17388568	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	4q27	ADAD1	rs17388568-A	NR	6E-6	(T1D)	1.1	[NR]	Affymetrix, Illumina [NR]	N
1525	chr4	123329361	123329362	rs17388568	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	4q27	IL2, ADAD1, IL21	rs17388568-A	0.27	9E-7		1.12	[1.07-1.17]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1525	chr4	123329361	123329362	rs17388568	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	4q27	NR	rs17388568-A	0.26	3E-6		1.26	[1.11-1.42]	Affymetrix [469557]	N
1526	chr4	123353431	123353432	rs17454584	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	4q27	IL2, ADAD1, KIAA1109, IL21	rs17454584-G	0.26	6E-10		1.15	[1.1-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1526	chr4	123373132	123373133	rs2069772	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	4q27	IL2	rs2069772-C	0.30	1E-6		1.19	[1.11-1.28]	Affymetrix, Illumina [2217510] (imputed)	N
1526	chr4	123377979	123377980	rs2069762	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	4q27	IL2	rs2069762-A	NR	5E-7	(T1D)	1.12	[NR]	Affymetrix, Illumina [NR]	N
1526	chr4	123399490	123399491	rs45475795	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	4q27	IL2, IL21	rs45475795-G	0.07	4E-6	(EA)	1.14	[1.08-1.20]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1527	chr4	123478715	123478716	rs6852535	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	4q27	IL2, IL21	rs6852535-?	0.34	1E-7		1.23	[1.13-1.32]	Illumina [531451]	N
1527	chr4	123497696	123497697	rs17389644	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	4q27	IL2, IL21	rs17389644-A	NR	1E-6		1.208	[1.119-1.304]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1527	chr4	123509420	123509421	rs6822844	18311140	Hunt KA	2008-03-02	Nat Genet	Newly identified genetic risk variants for celiac disease related to the immune response.	Celiac disease	767 European ancestry cases, 1,422 European ancestry controls	1,643 European ancestry cases, 3,406 European ancestry controls	4q27	IL2, ADAD1, KIAA1109, IL21	rs6822844-C	0.81	3E-13		1.44	[1.30-1.58]	Illumina [310605]	N
1527	chr4	123509420	123509421	rs6822844	17558408	van Heel DA	2007-06-10	Nat Genet	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.	Celiac disease	778 European ancestry cases, 1,422 European ancestry controls	991 European ancestry cases, 1,489 European ancestry controls	4q27	IL2, TENR, KIAA1109, IL21	rs6822844-G	0.82	1E-14		1.59	[1.41-1.75]	Illumina [310605]	N
1527	chr4	123523874	123523875	rs7682241	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	4q27	IL2, IL21	rs7682241-A	0.33	4E-8		1.34	[1.21-1.48]	Illumina [463301]	N
1527	chr4	123568408	123568409	rs78538083	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	4q27	IL21, CETN4P	rs78538083-C	0.06	8E-6		1.32	[1.17-1.48]	NR [NR]	N
1529	chr4	123762896	123762897	rs10518406	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q28.1	FGF2	rs10518406-G	0.038	7E-7	(EA, men)	0.061	[0.037-0.085] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1531	chr4	124051466	124051467	rs9999118	24797007	Holliday EG	2014-05-01	Am J Gastroenterol	Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.	Irritable bowel syndrome	Up to 172 European ancestry cases, 1,398 European ancestry controls	Up to 485 European ancestry cases, up to 716 European ancestry controls	4q28.1	FGF2, NUDT6, SPRY1	rs9999118-G	0.025	8E-8	(IBS-D )	7.3	[3.53-15.03]	Affymetrix [~ 2500000] (imputed)	N
1531	chr4	124066947	124066948	rs303084	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q28.1	SPATA5, FGF2	rs303084-A	0.7961	4E-8	(EA)	0.0232	[0.015-0.031] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1531	chr4	124066947	124066948	rs303084	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q28.1	SPATA5, FGF2	rs303084-A	0.7946	3E-7	(EA, women)	0.0288	[0.018-0.04] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1531	chr4	124066947	124066948	rs303084	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q28.1	SPATA5, FGF2	rs303084-A	0.7701	3E-7		0.0209	[0.013-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1531	chr4	124066947	124066948	rs303084	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	4q28.1	SPATA5, FGF2	rs303084-A	0.7682	5E-6	(women)	0.0249	[0.014-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1536	chr4	124663355	124663356	rs111361850	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q28.1	intergenic	rs111361850-A	0.001	1E-6		34.08	[3.52 - 329.69]	Illumina [1556551]	N
1538	chr4	124915278	124915279	rs112000748	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4q28.1	NR	rs112000748-?	NR	1E-6	(Japanese)	0.2719	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1540	chr4	125265312	125265313	rs2125000	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	4q28.1	intergenic	rs2125000-T	0.307	3E-6	(remission - 12 weeks)	1.425	[1.27-1.58]	Affymetrix, Illumina [1200000] (imputed)	N
1541	chr4	125415533	125415534	rs6534441	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	4q28.1	intergenic	rs6534441-C	0.3328325	7E-6	(% improvement - SSRI treated - 12 weeks)	0.1801	[0.1-0.26] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
1546	chr4	125993501	125993502	rs1986655	19414484	Johnson AD	2009-05-04	Hum Mol Genet	Genome-wide association meta-analysis for total serum bilirubin levels.	Bilirubin levels	9,464 individuals	NA	4q28.1	intergenic	rs1986655-A	0.17	2E-6		0.02	[0.00-0.04] umol/l decrease in log(tbil)	Affymetrix, Illumina [2555103] (imputed)	N
1549	chr4	126359455	126359456	rs1395241	20351715	Liu Y	2010-03-30	Mol Psychiatry	Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.	Bipolar disorder or major depressive disorder (combined)	4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls	NA	4q28.1	FAT4	rs1395241-?	NR	8E-6				Affymetrix, Perlegen [1472580] (imputed)	N
1549	chr4	126426694	126426695	rs12639834	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	4q28.1	FAT4	rs12639834-?	0.358	6E-6	(SWM strategy)			Illumina [475971]	N
1549	chr4	126431918	126431919	rs950063	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	4q28.1	intergenic	rs950063-?	0.39	9E-6	(SMKDU)	0.08	[NR] years decrease	Illumina [~ 518000]	N
1553	chr4	126933291	126933292	rs1320267	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Subclinical atherosclerosis traits (other)	Up to 984 individuals	NA	4q28.1	intergenic	rs1320267-?	NR	7E-6	(ABI)			Affymetrix [70897]	N
1553	chr4	126996869	126996870	rs12509991	25628645	Tong Y	2015-01-13	Front Genet	Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs).	Response to Homoharringtonine (cytotoxicity)	93 African-American ancestry lymphoblastoid cell lines, 91 European ancestry lymphoblastoid cell lines, 94 Han Chinese ancestry lymphoblastoid cell lines	NA	4q28.1	intergenic	rs12509991-?		3E-7				Affymetrix, Illumina [6750581] (imputed)	N
1556	chr4	127323307	127323308	rs142200419	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	4q28.1	MIR2054	rs142200419-T	NR	5E-9	(WAP, All)	0.24	[-1.72-2.2] unit increase	Illumina [7600000] (imputed)	N
1556	chr4	127363096	127363097	rs12498806	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	4q28.1	intergenic	rs12498806-C	0.9832	5E-6		1.2967	[0.74-1.85] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1564	chr4	128320907	128320908	rs1443170	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q28.1	LOC729424	rs1443170-G	0.0030	9E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1564	chr4	128342119	128342120	rs724950	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q28.1	LOC729424	rs724950-A	0.365	8E-6	(RQmax)	0.04	[NR] increase	Illumina [899892]	N
1565	chr4	128466699	128466700	rs2090104	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q28.1	NR	rs2090104-G	0.335522302949062	5E-6	(IGP74)	0.1533	[0.087-0.219] unit decrease	Illumina [~ 2500000] (imputed)	N
1565	chr4	128523963	128523964	rs1399212	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q28.1	NR	rs1399212-T	0.9553	3E-7	(Trans/trans-18:2, EA)	0.0029	[0.0017-0.0041] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1567	chr4	128843479	128843480	rs1602084	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	4q28.2	MFSD8	rs1602084-?		5E-7	(SI+M)	0.43	[0.12-0.74] unit increase	Illumina [693128]	N
1567	chr4	128843479	128843480	rs1602084	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	4q28.2	MFSD8	rs1602084-?		3E-6	(SI)	0.43	[0.12-0.74] unit increase	Illumina [693128]	N
1574	chr4	129696220	129696221	rs1974942	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	4q28.2	PHF17	rs1974942-A	0.1	4E-6	(EA-glucose response)	5.29	[3.04-7.54] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1575	chr4	129890789	129890790	rs7655841	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (moderate to severe)	5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls	2,651 cases and their relatives	4q28.2	SCLT1	rs7655841-?	NR	7E-7	(AA)			Illumina [up to 701491] (imputed)	N
1578	chr4	130236227	130236228	rs10009321	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	4q28.2	intergenic	rs10009321-G	0.796	4E-6	(Ordinal I)	0.2186	[0.13-0.31] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1578	chr4	130236770	130236771	rs4975209	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	4q28.2	intergenic	rs4975209-C	0.7774	1E-6	(Ordinal I)	0.2237	[0.13-0.31] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1579	chr4	130340879	130340880	rs17014760	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Cerebral amyloid angiopathy	1,673 cases, 1,134 controls	NA	4q28.2	intergenic	rs17014760-A	0.2465	7E-6		0.3262	[0.18-0.47] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1582	chr4	130731283	130731284	rs4864201	22484627	Bradfield JP	2012-04-08	Nat Genet	A genome-wide association meta-analysis identifies new childhood obesity loci.	Obesity	5,530 European ancestry cases, 8,318 European ancestry controls	2,214 European ancestry cases, 2,674 European ancestry controls	4q28.2	BC041448	rs4864201-?	NR	2E-7		1.124	[1.076-1.175]	Affymetrix, Illumina [2700000] (imputed)	N
1583	chr4	130817059	130817060	rs2391518	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q28.2	C4orf33	rs2391518-T	0.32	1E-6		0.015	[0.009-0.0216] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1583	chr4	130817059	130817060	rs2391518	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q28.2	C4orf33	rs2391518-T	0.307	1E-6	(EA)	0.016	[0.0096-0.0226] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1583	chr4	130817059	130817060	rs2391518	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q28.2	C4orf33	rs2391518-T	0.306	3E-7	(EA, men)	0.022	[0.014-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1584	chr4	131013139	131013140	rs11933661	24277619	Quillen EE	2013-11-26	Am J Med Genet B Neuropsychiatr Genet	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Alcohol dependence	102 Han Chinese ancestry cases, 212 Han Chinese ancestry controls	NA	4q28.2	intergenic	rs11933661-?		4E-6		0.538	unit decrease	Illumina [247725]	N
1584	chr4	131026487	131026488	rs114646238	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	4q28.3	intergenic	rs114646238-C		9E-6		0.2801	unit increase	Illumina [5767231] (imputed)	N
1585	chr4	131127632	131127633	rs1908039	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	4q28.3	CYCSP14	rs1908039-?,rs11099040-?,rs13113376-?,rs1908038-?	NR	9E-8				Illumina [795637]	N
1585	chr4	131131415	131131416	rs11099040	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	4q28.3	CYCSP14	rs1908039-?,rs11099040-?,rs13113376-?,rs1908038-?	NR	9E-8				Illumina [795637]	N
1585	chr4	131132899	131132900	rs13113376	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	4q28.3	CYCSP14	rs1908039-?,rs11099040-?,rs13113376-?,rs1908038-?	NR	9E-8				Illumina [795637]	N
1585	chr4	131133490	131133491	rs1908038	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	4q28.3	CYCSP14	rs1908039-?,rs11099040-?,rs13113376-?,rs1908038-?	NR	9E-8				Illumina [795637]	N
1585	chr4	131137760	131137761	rs1024020	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	4q28.3	intergenic	rs1024020-A	0.21	4E-7		0.18	[0.10-0.26] unit increase	Illumina [~ 318327]	N
1590	chr4	131790500	131790501	rs1478091	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	4q28.3	LOC132321	rs1478091-?	0.06	2E-6			[NR]	Illumina [551642]	N
1602	chr4	133326394	133326395	rs7690467	22911880	Boraska V	2012-08-22	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.	Eating disorders	Up to 2,567 European ancestry individuals	Up to 767 European ancestry cases, up to 486  European ancestry controls	4q28.3	intergenic	rs7690467-T	0.715	7E-6	(OCPD)	1.12	[1.07-1.18]	Illumina [283744]	N
1607	chr4	134068634	134068635	rs7694118	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	4q28.3	PCDH10	rs7694118-C	0.663	6E-6	(Genotype model)	1.3	[0.85-1.99]	Illumina [508761]	N
1614	chr4	134947800	134947801	rs1494978	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second)	1,015 European ancestry individuals, 541 African American individuals	NA	4q28.3	NR	rs1494978-?		6E-6	(EA)			Illumina [up to 524000]	N
1618	chr4	135522739	135522740	rs10026364	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Hypertension	4,069 African American cases, 3,848 African American controls	1,372 African American cases, 1,482 African American controls	4q28.3	intergenic	rs10026364-T	0.2	4E-6		1.28	[1.15-1.42]	Affymetrix [~ 2740000] (imputed)	N
1620	chr4	135780371	135780372	rs10029269	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	4q28.3	intergenic	rs10029269-?	NR	4E-6	(Dominant model)			Affymetrix [271817]	N
1624	chr4	136193339	136193340	rs17639207	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	4q28.3	PABPC4L	rs17639207-T		8E-6	(WCadjBMI, men)			Affymetrix, Illumina [2846694] (imputed)	N
1630	chr4	137094748	137094749	rs10009124	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	4q28.3	intergenic	rs10009124-?		8E-7		0.27	unit increase	Illumina [1211988] (imputed)	N
1630	chr4	137094748	137094749	rs10009124	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children	1,686 Bangladeshi women	NA	4q28.3	intergenic	rs10009124-?		8E-8		0.31	unit increase	Illumina [1211988] (imputed)	N
1632	chr4	137345548	137345549	rs13116011	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	4q28.3	PABPC4L, PCDH18	rs13116011-T	0.84	9E-7	(Men)	0.019576594	[0.012-0.027] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1634	chr4	137526583	137526584	rs10012307	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (parent-of-origin)	1,024 European ancestry individuals	NA	4q28.3	TERF1P3	rs10012307-T	0.06	2E-8	(H19-ICR CpG 09-10)			Illumina [515966]	N
1635	chr4	137660382	137660383	rs6813479	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	4q28.3	RP11-138I17.1	rs6813479-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1638	chr4	138091011	138091012	rs75900745	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	4q28.3	NR	rs75900745-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1638	chr4	138134580	138134581	rs10519410	23719583	Kerns SL	2013-05-26	Radiother Oncol	Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.	Adverse response to radiation therapy	79 European, African, Asian, and Hispanic ancestry cases, 241 European, African, Asian, and Hispanic ancestry controls	107 European, African, Asian, and Hispanic ancestry cases, 671 European, African, Asian, and Hispanic ancestry controls	4q28.3	LOC646316, PCDH18	rs10519410-?	0.20	1E-6		1.5	[1.0-2.3]	Affymetrix [614453]	N
1639	chr4	138154811	138154812	rs10004839	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	4q28.3	PCDH18	rs10004839-T	0.02	5E-6		0.57	[0.32-0.82] unit increase	Illumina [2675979] (imputed)	N
1639	chr4	138227608	138227609	rs987360	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	4q28.3	PCDH18	rs987360-T	0.401	2E-6	(Novelty seeking)	0.27	unit increase	Affymetrix, Illumina [1252222] (imputed)	N
1642	chr4	138582710	138582711	rs17049741	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q28.3	PCDH18	rs17049741-A	0.15	8E-7	(Snack intake )	0.05	[NR] kcal increase	Illumina [899892]	N
1643	chr4	138692249	138692250	rs2313132	19165918	Graham RR	2008-08-01	Nat Genet	Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.	Systemic lupus erythematosus	431 European ancestry cases, 2,155 European ancestry controls	447 European ancestry trios, 293 trios	4q28.3	intergenic	rs2313132-?	0.12	8E-6			[NR]	Affymetrix [313238]	N
1649	chr4	139493397	139493398	rs1450439	25044411	Liao SY	2014-07-08	Genet Epidemiol	Genome-wide association and network analysis of lung function in the Framingham Heart Study.	Forced expiratory volume in 1 second	2,698 European ancestry individuals	NA	4q31.1	intergenic	rs1450439-A	0.2373	4E-6		67.9	[NR] unit increase	Affymetrix [300895]	N
1651	chr4	139809180	139809181	rs77803164	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	4q31.1	intergenic	rs77803164-?	NR	4E-6	(EA)	0.0222	[0.01279-0.03167] unit decrease	Illumina [1530316]	N
1656	chr4	140423133	140423134	rs17050782	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	4q31.1	SET7	rs17050782-?	0.21	8E-6	(SMKAGE)	0.03	[NR] years increase	Illumina [~ 518000]	N
1657	chr4	140517907	140517908	rs706334	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	4q31.1	intergenic	rs706334-A	0.476722533	8E-7		0.036302876	[0.022-0.051] unit decrease	Illumina [1632371] (imputed)	N
1658	chr4	140678280	140678281	rs4863687	25234806	Dijkstra AE	2014-09-18	Eur Respir J	Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.	Chronic mucus hypersecretion	342 European ancestry cases, 1,006 European ancestry controls	130 European ancestry cases, 2,313 European ancestry controls	4q31.1	MAML3	rs4863687-A	0.28	8E-6		1.48	[NR]	Illumina [522636]	N
1659	chr4	140795326	140795327	rs1531070	23708190	Hu Z	2013-05-26	Nat Genet	A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.	Congenital heart malformation	945 Han Chinese ancestry cases, 1,246 Han Chinese ancestry controls	2,160 Han Chinese ancestry cases, 3,866 Han Chinese ancestry controls	4q31.1	MAML3	rs1531070-A	0.11	5E-12		1.4	[1.27-1.54]	Illumina [708275]	N
1668	chr4	142005572	142005573	rs10007052	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	4q31.21	RNF150	rs10007052-A	0.23	1E-7	(TNFA)			Illumina [588352]	N
1669	chr4	142117423	142117424	rs1550057	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	4q31.21	intergenic	rs1550057-C	0.757	4E-6		1.39	[1.21-1.61]	Illumina [948658]	N
1669	chr4	142142728	142142729	rs17007017	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	4q31.21	ZNF330	rs17007017-G	0.685	7E-6		1.34	[1.18-1.52]	Illumina [948658]	N
1673	chr4	142709722	142709723	rs17007695	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	4q31.21	IL15	rs17007695-C	NR	9E-7		2.67	[1.53-4.68]	Affymetrix [476796]	N
1675	chr4	142976072	142976073	rs2667100	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	4q31.21	INPP4B	rs2667100-?		9E-7				Illumina [859311]	N
1683	chr4	144003158	144003159	rs7686660	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	4q31.21	LOC729675	rs7686660-T	0.27	2E-12		1.16	[1.11-1.21]	Illumina [458847]	N
1686	chr4	144357736	144357737	rs3805236	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	4q31.21	GAB1	rs3805236-G	0.25	7E-8		1.12	[1.08-1.17]	Illumina [458847]	N
1692	chr4	145196205	145196206	rs7690204	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	4q31.21	GYPA	rs7690204-?	NR	5E-6				NR [up to 8466825] (imputed)	N
1693	chr4	145257938	145257939	rs6537278	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	4q31.21	GYPA, KRT18P51	rs6537278-?	NR	7E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1693	chr4	145262926	145262927	rs13105210	25101718	Lee JH	2015-03-01	Am J Respir Cell Mol Biol	IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.	Chronic obstructive pulmonary disease	3,281 European ancestry cases, 494 African American cases, 2,712 European ancestry smoker controls, 1,749 African American smoker controls	NA	4q31.21	GYPA	rs13105210-C	0.69	9E-8		1.27	[1.17-1.39]	Illumina [NR] (imputed)	N
1694	chr4	145372247	145372248	rs12510916	25101718	Lee JH	2015-03-01	Am J Respir Cell Mol Biol	IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.	Chronic obstructive pulmonary disease	3,281 European ancestry cases, 494 African American cases, 2,712 European ancestry smoker controls, 1,749 African American smoker controls	NA	4q31.21	HHIP, HHIP-AS1	rs12510916-C	0.69	1E-7		1.27	[1.16-1.39]	Illumina [NR] (imputed)	N
1694	chr4	145434900	145434901	rs1512281	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	4q31.21	HHIP-AS1	rs1512281-A	NR	2E-7	(All)	0.08	[0.049-0.111] unit increase	Illumina [6900000] (imputed)	N
1694	chr4	145436323	145436324	rs12504628	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	4q31.21	HHIP	rs12504628-T	0.56	6E-13	(FEV1/FVC)	0.077	[0.055-0.099] s.d. decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1694	chr4	145445778	145445779	rs138641402	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease	3,777 European ancestry cases, 3,520 European ancestry smoker controls	NA	4q31.21	HHIP-AS1	rs138641402-A	0.63	4E-9		1.3	[1.19-1.42]	Illumina [NR] (imputed)	N
1694	chr4	145445778	145445779	rs138641402	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	4q31.21	HHIP	rs138641402-A	0.64	2E-9	(normal)	0.03	[0.022-0.038] unit decrease	Illumina [6942916] (imputed)	N
1694	chr4	145445778	145445779	rs138641402	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	4q31.21	HHIP	rs138641402-A	0.64	1E-8	(normal, EA)	0.03	[0.022-0.038] unit decrease	Illumina [6942916] (imputed)	N
1694	chr4	145460229	145460230	rs13147758	19300500	Wilk JB	2009-03-20	PLoS Genet	A genome-wide association study of pulmonary function measures in the Framingham Heart Study.	Pulmonary function	7,691 European ancestry individuals	835 European ancestry individuals	4q31.21	HHIP	rs13147758-G	0.39	8E-11		0.1	[NR] % increase in FEV1/FVC ratio	Affymetrix [2540223] (imputed)	N
1694	chr4	145480779	145480780	rs1828591	19300482	Pillai SG	2009-03-20	PLoS Genet	A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.	Chronic obstructive pulmonary disease	823 cases, 810 controls	1,891 European ancestry individuals from 606 families, 389 European ancestry cases, 472 European ancestry controls, 949 individuals from 127 families	4q31.21	HHIP	rs1828591-?	NR	1E-7		1.38	[1.17-1.63]	Illumina [493609]	N
1694	chr4	145485737	145485738	rs1980057	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	4q31.21	HHIP	rs1980057-?	NR	5E-18	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1694	chr4	145485737	145485738	rs1980057	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	4q31.21	HHIP	rs1980057-T	0.40	3E-20	(FEV1/FVC)	0.52	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
1694	chr4	145486388	145486389	rs13118928	20173748	Cho MH	2010-02-21	Nat Genet	Variants in FAM13A are associated with chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease	2,940 European ancestry cases, 1,380 European ancestry controls	502 European ancestry cases, 504 European ancestry controls, 1,110 cases, 2,698 controls	4q31.21	HHIP	rs13118928-?	0.40	5E-7		1.25	[1.14-1.37]	Illumina [499578]	N
1695	chr4	145506455	145506456	rs13141641	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	4q31.21	HHIP	rs13141641-T	NR	8E-10	(Perc15, All)	2.2	[1.44-2.96] unit decrease	Illumina [7600000] (imputed)	N
1695	chr4	145506455	145506456	rs13141641	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	4q31.21	HHIP	rs13141641-T	NR	2E-12	(%LAA-950, All)	0.12	[0.075-0.165] unit increase	Illumina [7600000] (imputed)	N
1695	chr4	145506455	145506456	rs13141641	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	4q31.21	HHIP-AS1	rs13141641-T	0.58	3E-6	(EA)	1.27	[NR]	Illumina [NR] (imputed)	N
1695	chr4	145506455	145506456	rs13141641	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (severe)	3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls	2,651 cases and their relatives	4q31.21	HHIP	rs13141641-T	0.59	4E-15		1.39	[1.28-1.51]	Illumina [up to 701491] (imputed)	N
1695	chr4	145506455	145506456	rs13141641	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (moderate to severe)	5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls	2,651 cases and their relatives	4q31.21	HHIP	rs13141641-T	0.59	2E-12		1.27	[1.19-1.36]	Illumina [up to 701491] (imputed)	N
1695	chr4	145506455	145506456	rs13141641	22080838	Cho MH	2011-11-11	Hum Mol Genet	A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.	Chronic obstructive pulmonary disease	3,499 European ancestry cases, 1,922 European ancestry controls	983 cases, 1,876 sibling controls	4q31.21	HHIP	rs13141641-?	NR	3E-7		1.32	[1.14-1.54]	Illumina [797983]	N
1695	chr4	145522757	145522758	rs2353398	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4q31.21	HHIP	rs2353398-?	NR	2E-9	(Conditioned on rs7689420)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1695	chr4	145565825	145565826	rs6845999	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4q31.21	HHIP	rs6845999-T	0.22	4E-14		0.037	[0.021-0.053] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1695	chr4	145568351	145568352	rs7689420	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	4q31.21	HHIP	rs7689420-C	0.84	4E-21		1.33	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1695	chr4	145568351	145568352	rs7689420	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4q31.21	HHIP	rs7689420-T	0.16	6E-51		0.073	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1695	chr4	145574843	145574844	rs1812175	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4q31.21	HHIP	rs1812175-A	0.163	2E-86		0.079	[0.071-0.087] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1695	chr4	145574843	145574844	rs1812175	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	4q31.21	HHIP	rs1812175-A	0.18	2E-9		0.068	[0.046-0.090] unit decrease	Affymetrix, Illumina [2193675] (imputed)	N
1695	chr4	145574843	145574844	rs1812175	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Height	11,536 European ancestry individuals	NA	4q31.21	HHIP	rs1812175-C	0.83	1E-9		0.12	[0.07-0.17] SD decrease	Illumina [559712] (imputed)	N
1695	chr4	145574843	145574844	rs1812175	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	4q31.21	HHIP	rs1812175-?	0.49	4E-6		0.06	[0.03-0.09] s.d. decrease	Illumina [229216]	N
1695	chr4	145574843	145574844	rs1812175	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	4q31.21	HHIP	rs1812175-C	0.86	1E-11		8.3	[5.95-10.65] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1696	chr4	145643078	145643079	rs6854783	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	4q31.21	HHIP	rs6854783-A	0.43	2E-9		0.06	[0.03-0.08] s.d. increase (males)	Affymetrix [402951]	N
1696	chr4	145650020	145650021	rs1492820	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	4q31.21	HHIP	rs1492820-G	0.48	1E-11		0.29	[0.21-0.37] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
1696	chr4	145659063	145659064	rs11727676	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q31.21	HHIP	rs11727676-T	0.911	6E-9		0.037	[0.024-0.049] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1696	chr4	145659063	145659064	rs11727676	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q31.21	HHIP	rs11727676-T	0.911	1E-6	(EA, men)	0.04	[0.024-0.057] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1696	chr4	145659063	145659064	rs11727676	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	4q31.21	HHIP	rs11727676-T	0.91	3E-8	(EA)	0.036	[0.023-0.048] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1697	chr4	145839263	145839264	rs4240326	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	4q31.21	ANAPC10	rs4240326-A	0.464	3E-43		0.04	[0.034-0.046] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1698	chr4	145982562	145982563	rs6823268	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	4q31.21	ANAPC10	rs6823268-A	0.82	2E-12		0.038	[0.022-0.054] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1701	chr4	146360756	146360757	rs34132583	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	4q31.21	intergenic	rs34132583-A	0.0416	3E-7		0.9231	[0.57-1.27] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1704	chr4	146769073	146769074	rs1027841	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	4q31.21	NR	rs1027841-A	0.162	2E-6	(Non-substance related behavioral disinhibition)			Illumina [527829]	N
1704	chr4	146794620	146794621	rs4547811	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	4q31.21	ZNF827	rs4547811-C	0.18	3E-27		6.4	[5.00-7.90] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1705	chr4	146821409	146821410	rs4835265	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Gamma glutamyl transpeptidase	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	4q31.22	ZNF827	rs4835265-T	0.42	1E-14		0.0043	[0.0031-0.0055] IU/L decrease	Affymetrix [~ 2200000] (imputed)	N
1705	chr4	146853164	146853165	rs2048161	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	4q31.22	ZNF827	rs2048161-A		6E-12	(AA)			Illumina [NR]	N
1705	chr4	146875550	146875551	rs723794	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	4q31.22	NR	rs723794-G	0.2686	6E-7		3.645	[NR] unit increase	Illumina [1200000] (imputed)	N
1705	chr4	146904303	146904304	rs11100904	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	4q31.22	ZNF827	rs11100904-?	NR	2E-6	(DMFS3)			Illumina [518997]	N
1709	chr4	147360130	147360131	rs191493117	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	4q31.22	NR	rs191493117-C	0.998	3E-6		2.057	[1.2-2.92] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1710	chr4	147499337	147499338	rs10213084	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	4q31.22	SLC10A7	rs10213084-G	0.869	4E-6				Affymetrix, Illumina [2516789] (imputed)	N
1712	chr4	147844423	147844424	rs1995809	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	4q31.22	TTC29	rs1995809-G	0.054	2E-6		0.22	[0.12-0.32] unit increase	Illumina [2316178] (imputed)	N
1714	chr4	148047549	148047550	rs1395821	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	4q31.22	intergenic	rs1395821-?	NR	7E-7				Illumina [574919]	N
1716	chr4	148282341	148282342	rs1429138	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	4q31.22	EDNRA	rs1429138-?	NR	2E-7	(DMFS2,DMFS5mand)			Illumina [518997]	N
1716	chr4	148322386	148322387	rs1429107	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q31.22	EDNRA	rs1429107-A	0.086	8E-6	(Hcy )	0.02	[NR] umol/L increase	Illumina [899892]	N
1716	chr4	148324308	148324309	rs13121109	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	4q31.22	EDNRA	rs13121109-?		6E-6				Illumina [5970354] (imputed)	N
1717	chr4	148393663	148393664	rs1878406	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	4q31.22	EDNRA	rs1878406-T	NR	1E-6		1.1	[1.06-1.14]	Illumina [575000] (imputed)	N
1717	chr4	148393663	148393664	rs1878406	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	4q31.22	EDNRA	rs1878406-T	0.13	7E-7	(cIMT)	0.0087	[0.01-0.01] per unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1717	chr4	148393663	148393664	rs1878406	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	4q31.22	EDNRA	rs1878406-T	0.13	7E-12	(Plaque)	0.1993	[0.14-0.26] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1717	chr4	148400818	148400819	rs6842241	22286173	Low SK	2012-01-27	Hum Mol Genet	Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.	Intracranial aneurysm	1,383 Japanese ancestry cases, 5,484 Japanese ancestry controls	1,048 Japanese ancestry cases, 7,212 Japanese ancestry controls	4q31.22	EDNRA	rs6842241-C	0.694	1E-8		1.249	[1.161-1.343]	Illumina [565149]	N
1717	chr4	148401189	148401190	rs6841581	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	4q31.22	EDNRA	rs6841581-?		2E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1718	chr4	148513619	148513620	rs11099660	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	4q31.23	TMEM184C	rs11099660-C	0.7	3E-6		1.57	[1.37-1.77]	Illumina [2292247] (imputed)	N
1718	chr4	148612487	148612488	rs11731298	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q31.23	PRMT10	rs11731298-A	0.017	9E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1720	chr4	148884188	148884189	rs7658486	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	4q31.23	ARHGAP10	rs7658486-A		1E-8	(EA)			Illumina [NR]	N
1721	chr4	148974601	148974602	rs6845865	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	4q31.23	ARHGAP10	rs6845865-G	0.21	7E-7		0.19	[0.11-0.27] unit increase	Illumina [~ 318327]	N
1722	chr4	149079496	149079497	rs3931397	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	4q31.23	NR3C2	rs3931397-T	0.07	4E-8		0.12	[0.061-0.179] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1724	chr4	149311727	149311728	rs11725509	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	4q31.23	NR3C2	rs11725509-A	0.97	1E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1724	chr4	149321345	149321346	rs1490453	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	4q31.23	NR3C2	rs1490453-A	0.17	3E-6	(fibrinogen)	0.25	[0.15-0.35] g/L increase	Illumina [316730]	N
1724	chr4	149332943	149332944	rs1546044	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q31.23	NR	rs1546044-A	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1726	chr4	149570679	149570680	rs2358462	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	4q31.23	intergenic	rs2358462-G	0.44	4E-6	(Steatosis)	0.6	[NR] unit increase	Illumina [324623]	N
1726	chr4	149574748	149574749	rs75764011	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q31.23	NR	rs75764011-?	NR	3E-7		0.2708	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1726	chr4	149635024	149635025	rs10519980	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	4q31.23	ATP5LP4, LOC285423	rs10519980-C	0.81	7E-6		1.16	[1.09-1.23]	Illumina [870065]	N
1726	chr4	149652609	149652610	rs10028213	22494929	Rawal R	2012-04-16	Hum Mol Genet	Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.	Thyroid function	3,736 European ancestry individuals	3,727 European ancestry individuals	4q31.23	NR3C2	rs10028213-C	0.823	3E-10		0.084	[0.059-0.109] unit increase	Affymetrix, Illumina [2524918] (imputed)	N
1726	chr4	149669505	149669506	rs10032216	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	4q31.23	NR3C2	rs10032216-T	0.781	9E-16	(TSH)	0.087	[0.065-0.109] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1726	chr4	149669505	149669506	rs10032216	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	4q31.23	NR3C2	rs10032216-T	0.781	2E-13	(TSH - Females)	0.106	[0.079-0.133] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1734	chr4	150672513	150672514	rs17026425	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	4q31.23	intergenic	rs17026425-?		7E-7	(overall survival)	5.06	[2.67-9.60]	Illumina [729737]	N
1734	chr4	150725211	150725212	rs10030601	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	4q31.23	intergenic	rs10030601-C	0.035	1E-6	(GAE)	1.58	[1.29-1.93]	Affymetrix [4560000] (imputed)	N
1736	chr4	150901756	150901757	rs11930273	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	4q31.23	DCLK2	rs11930273-G	0.91	1E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1737	chr4	151101671	151101672	rs11947645	24133439	Jones RM	2013-10-11	Front Hum Neurosci	Genome-wide association study of autistic-like traits in a general population study of young adults.	Social autistic-like traits	965 European ancestry young adult individuals	NA	4q31.23	DCLK2	rs11947645-A		1E-6		5.329	[3.17-7.48] unit increase	Illumina [2462046] (imputed)	N
1738	chr4	151222265	151222266	rs1960918	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Helix rolling	4,919 Latin American individuals	NA	4q31.3	LRBA	rs1960918-A	0.43	2E-8		0.066	unit decrease	Illumina [671038]	N
1738	chr4	151222265	151222266	rs1960918	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear morphology	4,919 Latin American individuals	NA	4q31.3	LRBA	rs1960918-A	0.43	4E-8				Illumina [671038]	N
1750	chr4	152782877	152782878	rs488400	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q31.3	NR	rs488400-T	0.4161	1E-6	(Trans/trans-18:2, EA)	0.0019	[0.0011-0.0027] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1750	chr4	152785360	152785361	rs361171	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q31.3	NR	rs361171-T	0.5657	2E-6	(Trans/trans-18:2, EA)	0.0014	[0.00081-0.00199] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1751	chr4	152907699	152907700	rs360929	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Volumetric brain MRI	705 European ancestry individuals	NA	4q31.3	intergenic	rs360929-?	NR	9E-6	(ALTHBV)			Affymetrix [70897]	N
1751	chr4	152908168	152908169	rs360932	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	4q31.3	intergenic	rs360932-A		8E-6	(Modelling analysis)	1.06	[1.03-1.08]	NR [1252901] (imputed)	N
1756	chr4	153520474	153520475	rs6813195	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	4q31.3	TMEM154	rs6813195-C		4E-14		1.08	[1.06-1.10]	Affymetrix, Illumina [2500000] (imputed)	N
1759	chr4	153893353	153893354	rs11099864	17362836	Schymick JC	2007-02-20	Lancet Neurol	Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.	Amyotrophic lateral sclerosis	276 European ancestry cases, 271 European ancestry controls	NA	4q31.3	KIAA1727	rs11099864-?	NR	9E-6		1.0	[0.80-1.40]	Illumina [549062]	N
1759	chr4	153896159	153896160	rs77708442	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q31.3	FHDC1	rs77708442-A	0.032	8E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1761	chr4	154153999	154154000	rs12644284	21654844	Briggs FB	2011-06-09	Genes Immun	Genome-wide association study of severity in multiple sclerosis.	Multiple sclerosis	1,470 European ancestry cases	NA	4q31.3	TRIM2	rs12644284-?	0.67	4E-6	(Extreme)	2.04	[NR]	Affymetrix [2110417] (imputed)	N
1762	chr4	154374983	154374984	rs6817170	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	4q31.3	KIAA0922	rs6817170-G	0.286	9E-6	(Allelic model)	1.517	[1.264-1.822]	Illumina [733202]	N
1763	chr4	154478741	154478742	rs74964132	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q31.3	intergenic	rs74964132-G	0.007	5E-6		6.76	[2.62-17.44]	Illumina [1556551]	N
1764	chr4	154652027	154652028	rs981844	25350695	Postmus I	2014-10-28	Nat Commun	Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.	Response to statins (LDL cholesterol change)	18,596 European ancestry individuals	23,279 European ancestry individuals	4q31.3	RNF175	rs981844-A	0.747	1E-6		0.009	[0.0051-0.0129] unit increase	Affymetrix, Illumina, Perlegen [at least 2500000] (imputed)	N
1765	chr4	154703595	154703596	rs17030434	19389651	Smith JG	2009-02-15	Heart Rhythm	Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.	Electrocardiographic conduction measures	1,262 Kosraen individuals	NA	4q31.3	NR	rs17030434-?	0.43	5E-6	(P wave duration)			Affymetrix [338049]	N
1766	chr4	154864749	154864750	rs13135284	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (parent-of-origin)	1,024 European ancestry individuals	NA	4q31.3	intergenic	rs13135284-C	0.26	5E-8	(NESPAS CpG02)			Illumina [515966]	N
1767	chr4	154995462	154995463	rs2404916	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q31.3	DCHS2	rs2404916-G	0.334	9E-6	(Hcy )	0.02	[NR] umol/L increase	Illumina [899892]	N
1769	chr4	155301058	155301059	rs12651106	21757653	Lovely RS	2011-07-14	Arterioscler Thromb Vasc Biol	Assessment of genetic determinants of the association of &#x003b3;' fibrinogen in relation to cardiovascular disease.	Fibrinogen	3,042 individuals	NA	4q31.3	DCHS2	rs12651106-A	0.17	2E-12		0.14	[0.10-0.18] g/L decrease	Affymetrix [~ 2500000] (imputed)	N
1769	chr4	155316121	155316122	rs902464	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	4q31.3	DCHS2	rs902464-A		3E-7	(EA)			Illumina [NR]	N
1770	chr4	155347392	155347393	rs1466662	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	4q31.3	DCHS2	rs1466662-?	NR	5E-7		0.9595	unit decrease	Illumina [2543888] (imputed)	N
1770	chr4	155389246	155389247	rs17031671	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	4q31.3	DCHS2	rs17031671-?	0.017	6E-11		0.116	[NR] bilirubin level decrease	Affymetrix [1227049] (imputed)	N
1770	chr4	155397516	155397517	rs4696584	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Folding of antihelix	4,919 Latin American individuals	NA	4q31.3	NR	rs4696584-?	NR	6E-7	(FDR adjusted)			Illumina [671038]	N
1771	chr4	155451758	155451759	rs12511469	21757653	Lovely RS	2011-07-14	Arterioscler Thromb Vasc Biol	Assessment of genetic determinants of the association of &#x003b3;' fibrinogen in relation to cardiovascular disease.	Fibrinogen	3,042 individuals	NA	4q31.3	PLRG1	rs12511469-A	0.19	2E-36		0.18	[0.15-0.21] g/L decrease	Affymetrix [~ 2500000] (imputed)	N
1771	chr4	155481288	155481289	rs4508864	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	4q31.3	FGB	rs4508864-T	0.22	6E-6	(FG)			Illumina [588352]	N
1771	chr4	155482742	155482743	rs1800789	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	4q31.3	FGB	rs1800789-A	0.21	2E-127		0.031	[0.029-0.033] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
1771	chr4	155482742	155482743	rs1800789	20031576	Dehghan A	2009-04-01	Circ Cardiovasc Genet	Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.	Fibrinogen	22,096 European ancestry individuals	17,686 European ancestry female individuals	4q31.3	FGB	rs1800789-A	0.22	2E-30		0.09	[0.07-0.11] g/L increase	Affymetrix, Illumina [~ 2661766] (imputed)	N
1771	chr4	155483913	155483914	rs1800788	21757653	Lovely RS	2011-07-14	Arterioscler Thromb Vasc Biol	Assessment of genetic determinants of the association of &#x003b3;' fibrinogen in relation to cardiovascular disease.	Fibrinogen	3,042 individuals	NA	4q31.3	FGB	rs1800788-T	0.20	1E-39		0.19	[0.16-0.22] g/L decrease	Affymetrix [~ 2500000] (imputed)	N
1771	chr4	155488820	155488821	rs6056	20031577	Danik JS	2009-04-01	Circ Cardiovasc Genet	Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.	Fibrinogen	17,686 European ancestry female individuals	NA	4q31.3	FGB, FGA, FGG	rs6056-A	0.18	8E-39		12.94	[NR] mg/dl increase	Illumina [337343]	N
1771	chr4	155507589	155507590	rs6050	21757653	Lovely RS	2011-07-14	Arterioscler Thromb Vasc Biol	Assessment of genetic determinants of the association of &#x003b3;' fibrinogen in relation to cardiovascular disease.	Fibrinogen	3,042 individuals	NA	4q31.3	FGA	rs6050-C	0.24	9E-90		0.26	[0.23-0.29] g/L decrease	Affymetrix [~ 2500000] (imputed)	N
1771	chr4	155514878	155514879	rs13109457	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	4q31.3	FGA, FGG	rs13109457-A	0.25	3E-18		6.3	[2.3-10.4] % increase	Affymetrix, Illumina [2522393] (imputed)	N
1771	chr4	155520929	155520930	rs7659024	21980494	Germain M	2011-09-27	PLoS One	Genetics of venous thrombosis: insights from a new genome wide association study.	Venous thromboembolism	1,542 European ancestry cases, 1,110 European ancestry controls	NA	4q31.3	FGA, FGG	rs7659024-A	0.25	2E-13		1.53	[NR]	Illumina [481002]	N
1771	chr4	155525275	155525276	rs2066865	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls	4q32.1	FGG	rs2066865-A	0.244	1E-16		1.24	[1.18-1.31]	Affymetrix, Illumina [6751884] (imputed)	N
1771	chr4	155542247	155542248	rs7681423	21757653	Lovely RS	2011-07-14	Arterioscler Thromb Vasc Biol	Assessment of genetic determinants of the association of &#x003b3;' fibrinogen in relation to cardiovascular disease.	Fibrinogen	3,042 individuals	NA	4q32.1	FGG	rs7681423-T	0.23	1E-109		0.29	[0.26-0.32] g/L decrease	Affymetrix [~ 2500000] (imputed)	N
1771	chr4	155543368	155543369	rs6536024	23650146	Tang W	2013-05-05	Genet Epidemiol	A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Venous thromboembolism	1,618 European ancestry cases, 42,881 European ancestry controls	3,231 European ancestry cases, 3,536 European ancestry controls	4q32.1	FGG	rs6536024-C	0.42	2E-13		1.25	[1.18-1.32]	Affymetrix, Illumina [2543885] (imputed)	N
1772	chr4	155654420	155654421	rs727153	18823527	Abraham R	2008-09-29	BMC Med Genomics	A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.	Alzheimer's disease	1,082 European ancestry cases, 1,239 European ancestry controls	1,400 controls	4q32.1	intergenic	rs727153-C	0.52	3E-6		1.63	[1.37-1.95]	Illumina [561494]	N
1779	chr4	156511458	156511459	rs1842896	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	4q32.1	GUCY1A3	rs1842896-T	0.76	1E-11		1.14	[1.10-1.19]	Affymetrix [~ 2200000] (imputed)	N
1779	chr4	156619203	156619204	rs13143871	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	4q32.1	GUCY1A3	rs13143871-T	0.8	5E-8		0.96	[0.61-1.31] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1779	chr4	156619203	156619204	rs13143871	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	4q32.1	GUCY1A3	rs13143871-T	0.8	1E-6				Affymetrix, Illumina [2485448] (imputed)	N
1779	chr4	156619203	156619204	rs13143871	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	4q32.1	GUCY1A3	rs13143871-T	0.8	6E-7		0.49	[0.29-0.69] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1780	chr4	156645512	156645513	rs13139571	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	4q32.1	GUCY1A3, GUCY1B3	rs13139571-C	0.76	1E-6		0.321	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1780	chr4	156645512	156645513	rs13139571	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	4q32.1	GUCY1A3, GUCY1B3	rs13139571-C	0.76	2E-10		0.26	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1780	chr4	156645512	156645513	rs13139571	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	4q32.1	GUCY1A3, GUCY1B3	rs13139571-C	0.74	3E-7	(Mean Arterial Pressure)	0.289	[0.18-0.40] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1781	chr4	156808287	156808288	rs13122250	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q32.1	TDO2	rs13122250-T	0.55	9E-12	(tryptophan)	0.006	[0.004-0.008] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1782	chr4	156998540	156998541	rs4234898	19786962	Roeske D	2009-09-29	Mol Psychiatry	First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children.	Speech perception in dyslexia	200 European ancestry cases	186 European ancestry cases	4q32.1	PDGFC, CTSO, TDO2	rs4234898-T	NR	5E-8	(MMNb)			Illumina [297086]	N
1785	chr4	157340209	157340210	rs13124827	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	4q32.1	PDGFC	rs13124827-C	0.47	1E-9		1.23	[NR]	Illumina [8207076] (imputed)	N
1788	chr4	157720123	157720124	rs4691380	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	4q32.1	PDGFC	rs4691380-?		5E-9				Affymetrix, Illumina [~ 2400000] (imputed)	N
1801	chr4	159444313	159444314	rs936094	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	4q32.1	RXFP1	rs936094-C	0.17	1E-6	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
1802	chr4	159629150	159629151	rs4690909	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	4q32.1	ETFDH	rs4690909-C	0.69	2E-57	(octanoylcarnitine/X-13435)	0.056	[0.048-0.064] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1802	chr4	159630816	159630817	rs8396	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	4q32.1	ETFDH, C4orf46	rs8396-T	0.7182	3E-14	(Octanoylcarnitine)	0.0794	[0.059-0.1] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1802	chr4	159630816	159630817	rs8396	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	4q32.1	ETFDH, C4orf46	rs8396-T	0.7163	2E-18	(Decanoylcarnitine)	0.1028	[0.08-0.126] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1802	chr4	159630816	159630817	rs8396	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q32.1	ETFDH	rs8396-T	0.7	9E-38	(decanoylcarnitine)	0.053	[0.045-0.061] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1802	chr4	159630816	159630817	rs8396	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q32.1	ETFDH	rs8396-T	0.7	9E-13	(cis-4-decenoyl carnitine)	0.026	[0.018-0.034] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1802	chr4	159630816	159630817	rs8396	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q32.1	ETFDH	rs8396-T	0.7	1E-31	(octanoylcarnitine)	0.048	[0.04-0.056] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1802	chr4	159630816	159630817	rs8396	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	4q32.1	ETFDH	rs8396-C	0.304	6E-15	(decanoylcarnitine + 25 other traits)	0.098	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1802	chr4	159630816	159630817	rs8396	20037589	Illig T	2009-12-27	Nat Genet	A genome-wide perspective of genetic variation in human metabolism.	Metabolite levels	1,029 European ancestry individuals	1,202 European ancestry individuals	4q32.1	ETFDH	rs8396-T	0.30	4E-24	(C14:1-OH/C10)	5.6	[NR] % variance	Affymetrix [517480]	N
1807	chr4	160282717	160282718	rs6536413	23358156	Benyamin B	2013-01-29	Mol Psychiatry	Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.	Intelligence (childhood)	12,441 European ancestry children	5,548 European ancestry children	4q32.1	NR	rs6536413-A	0.13	6E-6		0.075	[0.042-0.108] unit decrease	Affymetrix, Illumina [138093] (imputed)	N
1813	chr4	161028816	161028817	rs17261688	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	4q32.1	intergenic	rs17261688-G	0.12	3E-6	(NESPAS-ICR)			Illumina [515966]	N
1817	chr4	161506896	161506897	rs17291045	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	4q32.1	intergenic	rs17291045-?	NR	5E-8	(progression)			Illumina [NR]	N
1822	chr4	162173479	162173480	rs7676384	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	4q32.2	intergenic	rs7676384-?	NR	8E-6	(SF4)			Affymetrix [5476100] (imputed)	N
1822	chr4	162250931	162250932	rs4470583	21310492	Huang YC	2011-02-08	Ophthalmology	Genome-wide association study of diabetic retinopathy in a Taiwanese population.	Diabetic retinopathy	174 Han Chinese ancestry Type 2 diabetes cases, 575 Han Chinese ancestry Type 2 diabetes controls, 100 Han Chinese ancestry non-diabetic controls	NA	4q32.2	intergenic	rs4470583-A	NR	4E-7				Illumina [~ 550000]	N
1825	chr4	162602208	162602209	rs17638464	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Height	1,792 Filipino ancestry females	NA	4q32.2	FSTL5	rs17638464-G	0.83	2E-6		1.38	[0.81-1.95] cm increase	Affymetrix [2073674] (imputed)	N
1830	chr4	163243052	163243053	rs4440177	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Alcohol dependence	7,188 European ancestry individuals	NA	4q32.2	intergenic	rs4440177-A	0.338	6E-6		0.347	[NR] unit increase	Illumina [527829]	N
1831	chr4	163333404	163333405	rs35509282	25023989	Schmit SL	2014-07-14	Carcinogenesis	A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study.	Colorectal cancer	485 Ashkenazi Jewish cases, 498 Ashkenazi Jewish controls, 1,977 European ancestry cases, 999 European ancestry controls	1,131 Ashkenazi Jewish cases, 831 Ashkenazi Jewish controls	4q32.2	FSTL5, NAF1	rs35509282-A	NR	8E-9		1.53	[1.39-1.67]	Illumina [up to 9177523] (imputed)	N
1834	chr4	163738120	163738121	rs6840361	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	4q32.2	NAF1	rs6840361-C	NR	4E-6				Illumina [~ 1000000] (imputed)	N
1837	chr4	164193672	164193673	rs72697068	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q32.2	NR	rs72697068-A	NR	8E-6		1.11	[NR]	Illumina [7158791] (imputed)	N
1840	chr4	164532800	164532801	rs3792615	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	4q32.3	MARCH1	rs3792615-T	0.95	9E-6	(Indian)	1.93	[1.45-2.59]	Illumina [~ 2000000] (imputed)	N
1843	chr4	164959803	164959804	rs4533720	24578125	Olden M	2014-02-27	J Am Soc Nephrol	Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.	Urinary uromodulin levels	10,884 European ancestry individuals	NA	4q32.3	MARCH1	rs4533720-A	0.53	4E-7		0.07	[0.050-0.090] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1846	chr4	165400819	165400820	rs77156671	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q32.3	intergenic	rs77156671-A	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
1850	chr4	165878334	165878335	rs3733418	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q32.3	C4orf39	rs3733418-G	0.197	9E-6	(MCP1 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
1850	chr4	165908720	165908721	rs4691139	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Ovarian cancer in BRCA1 mutation carriers	683 European ancestry cases, 2,044 European ancestry controls	1,706 European ancestry cases, 10,258 European ancestry controls	4q32.3	intergenic	rs4691139-G	0.48	3E-8		1.2	[1.17-1.38]	Illumina [2568349] (imputed)	N
1852	chr4	166147711	166147712	rs12500138	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	4q32.3	KLHL2	rs12500138-T	0.051	6E-6	(Stroop)	0.2839	[0.16-0.41] unit increase	Affymetrix [> 371951] (imputed)	N
1853	chr4	166255703	166255704	rs17046216	22791750	Chen G	2012-07-12	Hum Mol Genet	Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.	Insulin-related traits	927 African American non-diabetic individuals	570 West African ancestry non-diabetic individuals	4q32.3	SC4MOL	rs17046216-A	0.48	3E-8	(IR)	0.19	[0.13-0.25] unit increase	Affymetrix [5396838] (imputed)	N
1853	chr4	166255703	166255704	rs17046216	22791750	Chen G	2012-07-12	Hum Mol Genet	Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.	Insulin-related traits	927 African American non-diabetic individuals	570 West African ancestry non-diabetic individuals	4q32.3	SC4MOL	rs17046216-A	0.48	2E-8	(FI)	0.18	[0.12-0.24] unit increase	Affymetrix [5396838] (imputed)	N
1857	chr4	166751093	166751094	rs72635116	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	4q32.3	TLL1	rs72635116-?		5E-6		0.313	[NR] unit decrease	Illumina [5970354] (imputed)	N
1857	chr4	166830363	166830364	rs12513380	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		4q32.3	TLL1	rs12513380-?		5E-6	(Cluxel size)			Illumina [208975]	N
1858	chr4	166872535	166872536	rs6812849	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	4q32.3	TLL1	rs6812849-?	NR	5E-7	(Trauma exposed controls; EA)			Illumina [up to 871502]	N
1858	chr4	166872535	166872536	rs6812849	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	4q32.3	TLL1	rs6812849-?	NR	1E-7	(Whole cohort; EA)			Illumina [up to 871502]	N
1858	chr4	166872535	166872536	rs6812849	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder	300 European ancestry cases, up to 1,538 European ancestry controls, 444 African American cases, up to 2,936 African American controls	207 European ancestry cases, up to 1,692 European ancestry controls, 89 African American cases, up to 655 African American controls	4q32.3	TLL1	rs6812849-?	NR	3E-9	(Whole cohort; EA)			Illumina [up to 871502]	N
1858	chr4	166872535	166872536	rs6812849	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder	300 European ancestry cases, up to 1,538 European ancestry controls, 444 African American cases, up to 2,936 African American controls	207 European ancestry cases, up to 1,692 European ancestry controls, 89 African American cases, up to 655 African American controls	4q32.3	TLL1	rs6812849-?	NR	1E-6	(Trauma Exposed controls; EA)			Illumina [up to 871502]	N
1861	chr4	167343938	167343939	rs17635075	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q32.3	TLL1	rs17635075-G	0.076	8E-6	(Gestational age )	0.05	[NR] wk increase	Illumina [899892]	N
1862	chr4	167455492	167455493	rs11941399	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	4q32.3	intergenic	rs11941399-?	NR	1E-6				NR [~ 2000000]	N
1864	chr4	167731887	167731888	rs143200770	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	4q32.3	NR	rs143200770-?		8E-7	(PCB99)	0.96	[0.59-1.33] unit decrease	Illumina [8736858] (imputed)	N
1864	chr4	167731887	167731888	rs143200770	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	4q32.3	NR	rs143200770-?		3E-7	(PCB138)	0.95	[0.6-1.3] unit decrease	Illumina [8736858] (imputed)	N
1867	chr4	168139379	168139380	rs9312517	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q32.3	SPOCK3	rs9312517-G	0.228	8E-7	(TC )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1867	chr4	168139379	168139380	rs9312517	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q32.3	SPOCK3	rs9312517-G	0.228	3E-6	(LDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1868	chr4	168264248	168264249	rs13111850	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-10)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	4q32.3	SPOCK3	rs13111850-G		3E-11	(AA)			Illumina [NR]	N
1869	chr4	168372432	168372433	rs191069440	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q32.3	NR	rs191069440-?	NR	6E-7	(AA)	0.9699	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1870	chr4	168522750	168522751	rs6813517	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	4q32.3	SPOCK3, ANXA10	rs6813517-T	0.21	3E-8	(CERAD-dr)	0.3686	[0.24-0.5] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1876	chr4	169338519	169338520	rs1963569	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q32.3	DDX60L	rs1963569-A	0.478	8E-6	(Diet fat )	0.03	[NR] %energy increase	Illumina [899892]	N
1877	chr4	169409957	169409958	rs2710833	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (AST)	236 European ancestry cases	NA	4q32.3	DDX60L, PALLD	rs2710833-A	0.17	6E-7		0.41	[NR] unit increase	Illumina [324623]	N
1878	chr4	169530257	169530258	rs17054392	18521091	Volpi S	2008-06-03	Mol Psychiatry	Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.	Response to iloperidone treatment (QT prolongation)	91 African American Schizophrenia cases, 69 European ancestry Schizophrenia cases, 16 Asian ancestry Schizophrenia cases, 7 Schizophrenia cases	NA	4q32.3	PALLD	rs17054392-C	NR	3E-6				Affymetrix [339272]	N
1879	chr4	169706996	169706997	rs113026070	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	4q32.3	NR	rs113026070-?	NR	8E-7	(PCB170)	0.26	[0.16-0.36] unit decrease	Illumina [8736858] (imputed)	N
1879	chr4	169728235	169728236	rs6854137	25881214	Shah AA	2015-02-27	Heart Surg Forum	Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.	Vein graft stenosis in coronary artery bypass grafting	361 European ancestry cases, 160 European ancestry controls	NA	4q32.3	PALLD	rs6854137-A	0.44	4E-6				Illumina [905781]	N
1886	chr4	170626551	170626552	rs10520163	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q33	NR	rs10520163-T	NR	1E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
1886	chr4	170626551	170626552	rs10520163	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	4q33	C4orf27, CLCN3, NEK1	rs10520163-T	0.47	1E-9		1.065	[1.043-1.086]	Affymetrix, Illumina [9005918] (imputed)	N
1888	chr4	170873843	170873844	rs2955259	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	4q33	intergenic	rs2955259-A	0.569	7E-8		0.024	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1888	chr4	170880882	170880883	rs11723530	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		4q33	intergenic	rs11723530-?	0.489	4E-6			[NR]	Affymetrix, Illumina [152234]	N
1889	chr4	170935244	170935245	rs4692589	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	4q33	MFAP3L	rs4692589-C		9E-7	(EA, factor score analysis)	0.067	[NR] unit decrease	Affymetrix [up to 730090]	N
1890	chr4	171053518	171053519	rs11726248	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	4q33	AADAT	rs11726248-A	0.106	5E-9	(FT4)	0.111	[0.074-0.148] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1890	chr4	171053518	171053519	rs11726248	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	4q33	AADAT	rs11726248-A	0.106	4E-7	(FT4-Females)	0.123	[0.076-0.17] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1894	chr4	171641234	171641235	rs10520189	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (age at onset)	5,148 European ancestry users	NA	4q33	NR	rs10520189-A		2E-6		0.29	[0.19-0.39] unit increase	NR [5896100] (imputed)	N
1896	chr4	171888221	171888222	rs967616	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	4q33	LOC100506122	rs967616-?	NR	2E-6	(Additive)	1.45	[1.23-1.69]	Affymetrix, Illumina [1621689] (imputed)	N
1913	chr4	174089237	174089238	rs6835098	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	4q34.1	intergenic	rs6835098-T	0.3308	5E-6	(Primary)	0.2278	[0.11-0.35] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1913	chr4	174094939	174094940	rs62341097	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	4q34.1	GALNT7	rs62341097-A	0.0458	6E-9	(Case/control)	1.1474	[0.76-1.53] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1916	chr4	174515681	174515682	rs12646107	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	4q34.1	intergenic	rs12646107-?	NR	4E-6	(SF8)			Affymetrix [5476100] (imputed)	N
1916	chr4	174547156	174547157	rs4129566	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	4q34.1	intergenic	rs4129566-?	NR	3E-6	(AA)			Illumina [37426733] (imputed)	N
1916	chr4	174547156	174547157	rs4129566	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	4q34.1	intergenic	rs4129566-?	NR	3E-6				Illumina [37426733] (imputed)	N
1916	chr4	174554831	174554832	rs11944332	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	4q34.1	RANP6	rs11944332-?	NR	2E-6	(AA)			Illumina [37426733] (imputed)	N
1916	chr4	174554831	174554832	rs11944332	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	4q34.1	RANP6	rs11944332-?	NR	2E-6				Illumina [37426733] (imputed)	N
1916	chr4	174574405	174574406	rs11723864	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	4q34.1	intergenic	rs11723864-G	0.11	7E-7	(ESRD)	1.51	[1.29-1.78]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1917	chr4	174602047	174602048	rs11727767	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q34.1	MORF4	rs11727767-A	0.447	7E-6	(Ghrelin )	0.03	[NR] pg/100 uL increase	Illumina [899892]	N
1917	chr4	174655913	174655914	rs4521323	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		4q34.1	NR	rs4521323-C	0.56	9E-6	(Any IgH translocation vs. controls)	1.28	[1.15-1.43]	Illumina [414804] (imputed)	N
1920	chr4	175027515	175027516	rs55768019	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	4q34.1	HPGD	rs55768019-G	0.42	8E-7		1.25	[1.17-1.33]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
1920	chr4	175071601	175071602	rs12507634	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	4q34.1	FBXO8	rs12507634-G	0.19	4E-6	(AA-glucose response)	4.84	[2.78-6.9] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1921	chr4	175125428	175125429	rs115683773	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q34.1	intergenic	rs115683773-A	0.018	7E-6		4.48	[2.19-9.17]	Illumina [1556551]	N
1922	chr4	175300778	175300779	rs6852435	21177773	Moyer AM	2010-12-22	Toxicol Sci	Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study.	Response to acetaminophen (hepatotoxicity)	60 European ancestry lymphoblastoid cell lines, 56 African American lymphoblastoid cell lines, 60 Han Chinese American lymphoblastoid cell lines	NA	4q34.1	KIAA1712	rs6852435-?	0.27	6E-6				Affymetrix, Illumina [1348864]	N
1924	chr4	175622589	175622590	rs12646911	25963547	Wilson CL	2015-05-11	Cancer	Genetic and clinical factors associated with obesity among adult survivors of childhood cancer: A report from the St. Jude Lifetime Cohort.	Obesity in adult survivors of childhood cancer exposed to cranial radiation	365 obese individuals, 411 non-obese individuals	NA	4q34.1	GLRA3	rs12646911-A	0.78	1E-6		1.89	[1.45-2.44]	Affymetrix [NR] (imputed)	N
1925	chr4	175642698	175642699	rs11725853	24595857	Sandholm N	2014-03-05	Diabetologia	Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes.	Urinary albumin excretion rate in type 1 diabetes	1,925 European ancestry cases	3,750 European ancestry cases	4q34.1	GLRA3	rs11725853-A	0.15	8E-7		0.11	[0.07-0.16] unit increase	Illumina [2400000] (imputed)	N
1926	chr4	175846425	175846426	rs6828523	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	4q34.1	ADAM29	rs6828523-C	0.87	4E-16		1.11	[1.09-1.15]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1927	chr4	176008217	176008218	rs72698613	23962720	Speed D	2013-08-19	Hum Mol Genet	A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.	Epilepsy (remission after treatment)	889 European and unknown ancestry epilepsy cases	NA	4q34.1	NR	rs72698613-A	0.92	4E-6		2.39	[NR]	Illumina [6923995] (imputed)	N
1929	chr4	176270884	176270885	rs2333163	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q34.1	LOC391718	rs2333163-G	0.034	5E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1932	chr4	176626271	176626272	rs12640626	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	4q34.2	intergenic	rs12640626-A	0.57	8E-7		0.022	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1932	chr4	176626271	176626272	rs12640626	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 101,069 European ancestry individuals	25,490 European ancestry individuals	4q34.2	GPM6A	rs12640626-A	0.58	7E-6	(College)	1.034	[NR]	Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)	N
1932	chr4	176648331	176648332	rs9284954	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q34.2	NR	rs9284954-C	0.444965493231047	5E-6	(IGP77)	0.1418	[0.081-0.203] unit decrease	Illumina [~ 2500000] (imputed)	N
1932	chr4	176662086	176662087	rs17599018	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	4q34.2	GPM6A	rs17599018-?	NR	2E-6	(Dysthymic)	0.98	[NR] unit increase	Affymetrix [703012]	N
1933	chr4	176731400	176731401	rs12498839	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q34.2	NR	rs12498839-A	NR	2E-6		1.11	[NR]	Illumina [7158791] (imputed)	N
1934	chr4	176859025	176859026	rs7687921	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	4q34.2	GPM6A	rs7687921-T	0.039	4E-6	(EA)	1.77	[0.95-3.28]	Affymetrix [up to 2366858] (imputed)	N
1934	chr4	176861300	176861301	rs1106568	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q34.2	NR	rs1106568-G	NR	7E-9		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1934	chr4	176861300	176861301	rs1106568	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	4q34.2	GPM6A	rs1106568-G	0.239	9E-9		1.0706638	[1.05-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
1937	chr4	177218252	177218253	rs183073101	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q34.2	NR	rs183073101-?	NR	6E-6	(AA)	0.8703	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1939	chr4	177542972	177542973	rs13111989	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	4q34.3	VEGFC	rs13111989-?	NR	2E-7				Illumina [990115]	N
1945	chr4	178318190	178318191	rs1395479	23698163	Gong J	2013-05-21	Nutrients	Genome-wide association study of serum selenium concentrations.	Serum selenium levels	582 European ancestry individuals	621 European ancestry individuals	4q34.3	AGA	rs1395479-A	0.27	3E-7		0.043	[0.027-0.059] mg/dL increase	Illumina [2474333]	N
1945	chr4	178318190	178318191	rs1395479	17903306	Newton-Cheh C	2007-09-19	BMC Med Genet	Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.	Heart rate variability traits	747 European ancestry individuals from 307 families	NA	4q34.3	NEIL3	rs1395479-?	NR	7E-6	(LF/HF)			Affymetrix [70897]	N
1946	chr4	178477451	178477452	rs1920975	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	4q34.3	intergenic	rs1920975-?	NR	4E-6		0.0254	[0.015-0.036] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
1953	chr4	179401432	179401433	rs2702449	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (everolimus)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	4q34.3	AGA	rs2702449-?	NR	7E-6		0.28	[NR] unit increase	Affymetrix, Illumina [1348798]	N
1958	chr4	180048361	180048362	rs17067123	19684573	Ge D	2009-08-16	Nature	Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance.	Response to hepatitis C treatment	871 European ancestry cases, 191 African American cases, 75 Hispanic cases	NA	4q34.3	intergenic	rs17067123-?	NR	8E-6	(combined)			Illumina [565759]	N
1960	chr4	180284813	180284814	rs6811556	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	4q34.3	intergenic	rs6811556-A	NR	9E-6	(Analysis II)			Illumina [313720]	N
1961	chr4	180356845	180356846	rs1378552	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	4q34.3	AGA	rs1378552-T	0.322	4E-9		0.032	[0.022-0.043] unit decrease	Illumina [7428049] (imputed)	N
1961	chr4	180383311	180383312	rs2716816	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	4q34.3	RPL19P8	rs2716816-C	0.149	7E-6		0.098	[0.055-0.141] cup size increase	Illumina [7422970] (imputed)	N
1963	chr4	180655624	180655625	rs17746001	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	4q34.3	intergenic	rs17746001-T	NR	3E-7		1.75	[NR]	Affymetrix [745006]	N
1963	chr4	180655624	180655625	rs17746001	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	4q34.3	intergenic	rs17746001-?	NR	3E-7		1.75	[NR]	Affymetrix [745006]	N
1963	chr4	180655624	180655625	rs17746001	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder	836 European ancestry cases, 2,093 European ancestry controls	NA	4q34.3	intergenic	rs17746001-T	NR	3E-7		2.03	[NR]	Affymetrix [745006]	N
1963	chr4	180664652	180664653	rs2383393	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	4q34.3	NR	rs2383393-G	0.63	2E-6	(males)	0.1	[NR] kg increase	Illumina [318237]	N
1963	chr4	180667646	180667647	rs17090640	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		4q34.3	LOC285501	rs17090640-?		3E-6	(Cluxel size)			Illumina [208975]	N
1963	chr4	180678225	180678226	rs13125519	25387708	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of acoustic startle eye blink and affectively modulated startle response: A genome-wide association study.	Acoustic startle blink response	3,323 European ancestry twins and their parents	NA	4q34.3	intergenic	rs13125519-?	NR	5E-6	(Pleasant Difference Startle Scores)	0.127	[0.072-0.182] unit decrease	Illumina [527829]	N
1963	chr4	180687999	180688000	rs6844851	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	4q34.3	NR	rs6844851-?	NR	9E-7	(dominant)			Affymetrix [NR]	N
1963	chr4	180704917	180704918	rs11495908	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q34.3	intergenic	rs11495908-G	0.086	4E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1963	chr4	180704917	180704918	rs11495908	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q34.3	intergenic	rs11495908-G	0.086	2E-6	(AST/ALT)	0.03	[NR] unit increase	Illumina [899892]	N
1965	chr4	180968430	180968431	rs1994816	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		4q34.3	NR	rs1994816-A	0.14	5E-7	(non t11;14 and t4;14 IgH translocations vs. controls)	1.76	[1.41-2.20]	Illumina [414804] (imputed)	N
1966	chr4	181103728	181103729	rs2309284	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q34.3	LOC391719, hCG_2025798	rs2309284-A	0.023	7E-7		4.43	[2.34-8.38]	Illumina [1556551]	N
1967	chr4	181229199	181229200	rs17834666	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	4q34.3	intergenic	rs17834666-A		1E-6		0.307	unit increase	Illumina [5767231] (imputed)	N
1967	chr4	181229199	181229200	rs17834666	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	4q34.3	intergenic	rs17834666-A	NR	8E-6		0.2201	unit increase	Illumina [5767231] (imputed)	N
1968	chr4	181295237	181295238	rs7699884	25475840	Colodro-Conde L	2014-12-05	Twin Res Hum Genet	A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan.	Breastfeeding duration	1,521 mothers from 1,073 families	NA	4q34.3	intergenic	rs7699884-?	NR	8E-6		0.179	[0.10-0.26] unit increase	Illumina [6590000] (imputed)	N
1974	chr4	182101688	182101689	rs10018288	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	4q34.3	LINC00290, MGC45800	rs10018288-G	0.19	4E-6		1.16	[1.09-1.24]	NR [NR]	N
1975	chr4	182197946	182197947	rs1454694	24737549	Yoon KA	2014-04-15	Clin Cancer Res	Genetic variations associated with postoperative recurrence in stage I non-small cell lung cancer.	Non-small cell lung cancer (recurrence rate)	250 Korean ancestry cases	308 Korean ancestry cases	4q34.3	LINC00290	rs1454694-C,rs10019279-C,rs5012808-A,rs17241910-A,rs28431436-G	NR	4E-6		2.09	[1.53-2.87]	Affymetrix [308098]	N
1975	chr4	182197946	182197947	rs1454694	24737549	Yoon KA	2014-04-15	Clin Cancer Res	Genetic variations associated with postoperative recurrence in stage I non-small cell lung cancer.	Non-small cell lung cancer (recurrence rate)	250 Korean ancestry cases	308 Korean ancestry cases	4q34.3	LINC00290	rs1454694-C	0.21	9E-8		2.12	[1.61-2.79]	Affymetrix [308098]	N
1975	chr4	182198478	182198479	rs10019279	24737549	Yoon KA	2014-04-15	Clin Cancer Res	Genetic variations associated with postoperative recurrence in stage I non-small cell lung cancer.	Non-small cell lung cancer (recurrence rate)	250 Korean ancestry cases	308 Korean ancestry cases	4q34.3	LINC00290	rs1454694-C,rs10019279-C,rs5012808-A,rs17241910-A,rs28431436-G	NR	4E-6		2.09	[1.53-2.87]	Affymetrix [308098]	N
1975	chr4	182203250	182203251	rs5012808	24737549	Yoon KA	2014-04-15	Clin Cancer Res	Genetic variations associated with postoperative recurrence in stage I non-small cell lung cancer.	Non-small cell lung cancer (recurrence rate)	250 Korean ancestry cases	308 Korean ancestry cases	4q34.3	LINC00290	rs1454694-C,rs10019279-C,rs5012808-A,rs17241910-A,rs28431436-G	NR	4E-6		2.09	[1.53-2.87]	Affymetrix [308098]	N
1975	chr4	182207817	182207818	rs17241910	24737549	Yoon KA	2014-04-15	Clin Cancer Res	Genetic variations associated with postoperative recurrence in stage I non-small cell lung cancer.	Non-small cell lung cancer (recurrence rate)	250 Korean ancestry cases	308 Korean ancestry cases	4q34.3	LINC00290	rs1454694-C,rs10019279-C,rs5012808-A,rs17241910-A,rs28431436-G	NR	4E-6		2.09	[1.53-2.87]	Affymetrix [308098]	N
1975	chr4	182217226	182217227	rs28431436	24737549	Yoon KA	2014-04-15	Clin Cancer Res	Genetic variations associated with postoperative recurrence in stage I non-small cell lung cancer.	Non-small cell lung cancer (recurrence rate)	250 Korean ancestry cases	308 Korean ancestry cases	4q34.3	LINC00290	rs1454694-C,rs10019279-C,rs5012808-A,rs17241910-A,rs28431436-G	NR	4E-6		2.09	[1.53-2.87]	Affymetrix [308098]	N
1975	chr4	182222726	182222727	rs17183114	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	4q34.3	intergenic	rs17183114-T	0.14	8E-6	(EA-triglyceride response)	26.49	[14.89-38.09] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1976	chr4	182399694	182399695	rs7672826	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	4q34.3	MGC45800	rs7672826-?	0.34	8E-6		1.37	[NR]	Illumina [551642]	N
1977	chr4	182480574	182480575	rs13115750	25271088	Singh A	2014-10-01	Eur J Hum Genet	Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.	Hip circumference (psychosocial stress interaction)	2,460 European ancestry individuals, 548 Chinese ancestry individuals,   1,547 African American individuals, 1,250 Hispanic individuals	3,157 European ancestry individuals	4q34.3	intergenic	rs13115750-?	NR	9E-6	(Hispanics)			Affymetrix [528298]	N
1977	chr4	182484768	182484769	rs1439283	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q34.3	intergenic	rs1439283-A	0.48	1E-6	(Light activity )	0.04	[NR] %awake time increase	Illumina [899892]	N
1977	chr4	182568249	182568250	rs17278117	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	4q34.3	intergenic	rs17278117-A	0.96	2E-6		0.093	unit increase	Illumina [~ 6300000] (imputed)	N
1977	chr4	182571618	182571619	rs17212303	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	4q34.3	intergenic	rs17212303-C	0.96	2E-6		0.094	unit increase	Illumina [~ 6300000] (imputed)	N
1978	chr4	182609864	182609865	rs12641856	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	4q34.3	MGC45800	rs12641856-?	NR	2E-6	(Afro-Caribbean)	15.19	[4.98-46.35]	Illumina [2485249] (imputed)	N
1978	chr4	182704550	182704551	rs6855088	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q34.3	intergenic	rs6855088-G	0.221	9E-7	(AST )	0.03	[NR] U/L increase	Illumina [899892]	N
1979	chr4	182782544	182782545	rs10520514	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	4q34.3	LOC728191, LOC100128118	rs10520514-A	0.415	5E-6	(Carbohydrate)			Affymetrix [590000]	N
1979	chr4	182782544	182782545	rs10520514	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	4q34.3	LOC728191, LOC100128118	rs10520514-A	0.415	5E-6	(Carbohydrate)			Affymetrix [590000]	N
1979	chr4	182813297	182813298	rs1028166	25192705	Du M	2014-09-05	Cancer Epidemiol Biomarkers Prev	No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.	Colorectal cancer (calcium intake interaction)	9,006 European ancestry cases, 9,503 European ancestry controls	NA	4q34.3	TENM3, AGA	rs1028166-G	0.31	7E-7	(Supplemental calcium intake)	1.49	[1.27-1.74]	NR [~ 2700000] (imputed)	N
1981	chr4	183036913	183036914	rs17305086	25145502	Tang S	2014-08-22	Ann Surg Oncol	Genome-wide Association Study of Survival in Early-stage Non-Small Cell Lung Cancer.	Non-small cell lung cancer (survival)	354 Han Chinese ancestry cases	327 Han Chinese ancestry cases	4q34.3	NR	rs17305086-?	NR	6E-6		2.14	[1.54-2.98]	Affymetrix [589102]	N
1982	chr4	183137397	183137398	rs2726807	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	4q34.3	intergenic	rs2726807-?	NR	6E-6	(EA)	1.291	[NR]	Illumina [up to 531195]	N
1982	chr4	183200144	183200145	rs11724903	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	4q34.3	TENM3, MIR1305	rs11724903-?		3E-7	(males)			Illumina [1211988] (imputed)	N
1983	chr4	183260600	183260601	rs10520528	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	4q35.1	ODZ3	rs10520528-T	0.43	2E-6		1.3	[0.77-1.83] mmHg increase	Illumina [1019297] (imputed)	N
1983	chr4	183300613	183300614	rs4862046	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q35.1	NR	rs4862046-G	0.907650657658059	9E-6	(IGP68)	0.2467	[0.14-0.36] unit increase	Illumina [~ 2500000] (imputed)	N
1983	chr4	183300613	183300614	rs4862046	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	4q35.1	NR	rs4862046-G	0.907610376436526	6E-7	(IGP49)	0.2767	[0.17-0.39] unit increase	Illumina [~ 2500000] (imputed)	N
1984	chr4	183440646	183440647	rs12374220	25477429	Lieb W	2014-12-04	Circ Cardiovasc Genet	Genome-Wide Meta-Analyses of Plasma Renin Activity and Concentration Reveal Association with the Kininogen 1 and Prekallikrein Genes.	Plasma renin activity levels	5,275 European ancestry individuals	NA	4q35.1	TENM3	rs12374220-T	NR	7E-9				Affymetrix, Illumina [~ 2500000] (imputed)	N
1984	chr4	183477328	183477329	rs10013166	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	4q35.1	NR	rs10013166-A	0.4416	2E-6		0.11	[0.062-0.15] unit increase	Affymetrix, Illumina [2403520] (imputed)	N
1985	chr4	183543647	183543648	rs908084	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q35.1	ODZ3, MGC45800, DCTD	rs908084-A	0.044	9E-9		3.97	[2.4-6.56]	Illumina [1556551]	N
1985	chr4	183614583	183614584	rs12510251	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	4q35.1	NR	rs12510251-A	NR	1E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
1986	chr4	183687788	183687789	rs10017238	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	4q35.1	ODZ3	rs10017238-?	NR	7E-6	(SF4)			Affymetrix [5476100] (imputed)	N
1986	chr4	183751028	183751029	rs4862110	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	4q35.1	DCTD	rs4862110-C	0.174	2E-6		1.44	[1.24-1.67]	Illumina [287802]	N
1987	chr4	183821661	183821662	rs13114435	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q35.1	DCTD	rs13114435-G	0.127	2E-6	(Diet fat )	0.03	[NR] %energy increase	Illumina [899892]	N
1990	chr4	184215674	184215675	rs955748	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	4q35.1	WWC2	rs955748-A	0.24	4E-8		0.023	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1990	chr4	184278130	184278131	rs17074636	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Gout	2,115 European ancestry cases, 67,259 European ancestry controls	1,036 European ancestry cases	4q35.1	NR	rs17074636-T	0.9862	7E-7		0.7091	[0.43-0.99] unit decrease	Affymetrix, Illumina [2538056] (imputed)	N
1995	chr4	184921298	184921299	rs12498735	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	4q35.1	STOX2	rs12498735-T	0.25	8E-6	(AA-triglyceride response)	19.13	[10.74-27.52] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1996	chr4	185007392	185007393	rs4862307	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	4q35.1	NR	rs4862307-T	0.349	6E-6		0.098	[0.055-0.141] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
2001	chr4	185639168	185639169	rs2130392	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	4q35.1	MLF1IP	rs2130392-A	0.358	3E-8		1.42	[1.23-1.64]	Illumina [463793]	N
2006	chr4	186272720	186272721	rs61731371	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q35.1	NR	rs61731371-?	NR	3E-6	(AA)	1.4609	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2006	chr4	186272720	186272721	rs61731371	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4q35.1	NR	rs61731371-?	NR	5E-7	(AA)	1.4202	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2008	chr4	186602209	186602210	rs4862562	25896417	Nakada TA	2015-04-17	J Innate Immun	VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.	Cytokine-stimulated IL-6 production	60 European ancestry lymphoblastoid cell lines	NA	4q35.1	SORBS2	rs4862562-C	0.076	3E-8				Illumina [2300000]	N
2008	chr4	186602209	186602210	rs4862562	25896417	Nakada TA	2015-04-17	J Innate Immun	VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.	Cytokine and corticosteroid-stimulated IL-6 production	60 European ancestry lymphoblastoid cell lines	NA	4q35.1	SORBS2	rs4862562-C	0.076	9E-10				Illumina [2300000]	N
2008	chr4	186612674	186612675	rs4376189	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	4q35.1	SORBS2	rs4376189-A	0.90	2E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
2012	chr4	187148386	187148387	rs4253238	23381795	Verweij N	2013-02-04	Hypertension	Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.	Circulating vasoactive peptide levels	3,444 European ancestry individuals	3,230 European ancestry individuals	4q35.2	KLKB1	rs4253238-C	0.46	4E-52	(ADM)	0.031	[0.027-0.035] nmol/l increase	Illumina [2269099] (imputed)	N
2012	chr4	187148386	187148387	rs4253238	23381795	Verweij N	2013-02-04	Hypertension	Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.	Circulating vasoactive peptide levels	3,444 European ancestry individuals	3,230 European ancestry individuals	4q35.2	KLKB1	rs4253238-C	0.46	1E-122	(ET)	5.136	[4.71-5.56] pmol/l increase	Illumina [2269099] (imputed)	N
2012	chr4	187149539	187149540	rs1912826	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	4q35.2	CYP4V2, KLKB1	rs1912826-?	0.43	4E-12				Illumina [~ 2000000] (imputed)	N
2012	chr4	187152326	187152327	rs4241816	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	4q35.2	KLKB1	rs4241816-?	NR	6E-13	(His, Val)	0.12	[0.081-0.159] unit increase	Illumina [~ 7700000] (imputed)	N
2012	chr4	187157457	187157458	rs4253252	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q35.2	KLKB1	rs4253252-T	0.48	3E-22	(X-11792)	0.086	[0.068-0.104] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2012	chr4	187157457	187157458	rs4253252	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	4q35.2	KLKB1	rs4253252-T	0.492	7E-18	(bradykinin, des-arg(9))	0.238	[NR] unit decrease	Affymetrix, Illumina [534665]	N
2012	chr4	187158033	187158034	rs3733402	25561047	Musani SK	2015-01-05	Circ Cardiovasc Genet	Genome-Wide Association Analysis of Plasma B-Type Natriuretic Peptide in African Americans: The Jackson Heart Study.	B-type natriuretic peptide	2,790 Black individuals	NA	4q35.2	KLKB1	rs3733402-G	0.26	2E-11		0.2	[0.14-0.26] unit increase	Affymetrix [2500000] (imputed)	N
2012	chr4	187158033	187158034	rs3733402	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	4q35.2	KLKB1	rs3733402-A	0.74	9E-27	(HXGXA)	0.44	[NR] unit increase	Affymetrix [2341704] (imputed)	N
2012	chr4	187158033	187158034	rs3733402	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	4q35.2	KLKB1	rs3733402-A	0.74	7E-25	(Leucylphenylalanine)	0.28	[NR] unit increase	Affymetrix [2341704] (imputed)	N
2012	chr4	187158033	187158034	rs3733402	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q35.2	KLKB1	rs3733402-G	0.337	9E-8	(IGF1 free )	0.04	[NR] ng/mL increase	Illumina [899892]	N
2013	chr4	187174682	187174683	rs4253311	25477429	Lieb W	2014-12-04	Circ Cardiovasc Genet	Genome-Wide Meta-Analyses of Plasma Renin Activity and Concentration Reveal Association with the Kininogen 1 and Prekallikrein Genes.	Plasma renin activity levels	5,275 European ancestry individuals	NA	4q35.2	KLKB1	rs4253311-A	NR	6E-8				Affymetrix, Illumina [~ 2500000] (imputed)	N
2013	chr4	187174682	187174683	rs4253311	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	4q35.2	KLKB1	rs4253311-A	0.49	4E-48	(bradykinin, des-arg(9))	0.141	[0.12-0.16] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
2013	chr4	187185384	187185385	rs3756008	21980494	Germain M	2011-09-27	PLoS One	Genetics of venous thrombosis: insights from a new genome wide association study.	Venous thromboembolism	1,542 European ancestry cases, 1,110 European ancestry controls	NA	4q35.2	F11	rs3756008-T	0.44	6E-11		1.4	[NR]	Illumina [481002]	N
2013	chr4	187188093	187188094	rs4253399	23650146	Tang W	2013-05-05	Genet Epidemiol	A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Venous thromboembolism	1,618 European ancestry cases, 42,881 European ancestry controls	3,231 European ancestry cases, 3,536 European ancestry controls	4q35.2	F11	rs4253399-G	0.61	3E-14		1.24	[1.17-1.31]	Affymetrix, Illumina [2543885] (imputed)	N
2013	chr4	187195550	187195551	rs1593	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	4q35.2	F11	rs1593-A	NR	2E-18		0.536	[0.41-0.66] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2013	chr4	187199004	187199005	rs4253417	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls	4q35.2	F11	rs4253417-C	0.405	1E-23		1.27	[1.22-1.34]	Affymetrix, Illumina [6751884] (imputed)	N
2013	chr4	187207380	187207381	rs2289252	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	4q35.2	F11	rs2289252-C	NR	6E-43		0.483	[0.40-0.57] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2013	chr4	187257575	187257576	rs13148903	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	4q35.2	F11, LOC544042, KLKB1	rs13148903-G	0.25	3E-6	(LDL, sum)			Illumina [~ 2500000] (imputed)	N
2014	chr4	187338334	187338335	rs11935103	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	4q35.2	intergenic	rs11935103-T	NR	2E-6	(EA - GSE)			Affymetrix [421789]	N
2014	chr4	187338334	187338335	rs11935103	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	4q35.2	intergenic	rs11935103-T	0.262	1E-6	(EA + AA - GSE)			Affymetrix [421789]	N
2016	chr4	187678865	187678866	rs925642	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	4q35.2	FAT1, MTNR1A	rs925642-?	NR	7E-6	(obesity)			Illumina [~ 550000]	N
2018	chr4	187921498	187921499	rs7660345	24399259	He L	2014-01-07	Nat Commun	Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne.	Acne (severe)	1,031 Han Chinese ancestry cases, 1,031 Han Chinese ancestry controls	1,860 Han Chinese ancestry cases, 3,660 Han Chinese ancestry controls	4q35.2	NR	rs7660345-T	0.3103	3E-6	(fixed effect model)	1.19	[NR]	Illumina [809305]	N
2020	chr4	188191305	188191306	rs4478239	22472876	Sullivan	2012-04-03	Mol Psychiatry	A mega-analysis of genome-wide association studies for major depressive disorder.	Major depressive disorder	9,240 European ancestry cases, 9,519 European ancestry controls	6,783 European ancestry cases, 50,695 European ancestry controls	4q35.2	intergenic	rs4478239-?	NR	5E-6				Affymetrix, Illumina, Perlegen [~ 1200000] (imputed)	N
2021	chr4	188345367	188345368	rs1431005	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	4q35.2	LOC644282, LOC644325, MRPS36P2	rs1431005-A	0.4	2E-7	(LDL, diff)			Illumina [~ 2500000] (imputed)	N
2024	chr4	188614757	188614758	rs1394866	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs1394866-A	0.0941	4E-6	(Trans/trans-18:2, EA)	0.002	[0.0012-0.0028] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188614907	188614908	rs10034736	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs10034736-T	0.0934	4E-6	(Trans/trans-18:2, EA)	0.002	[0.0012-0.0028] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188615041	188615042	rs10034852	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs10034852-T	0.0909	5E-6	(Trans/trans-18:2, EA)	0.002	[0.0012-0.0028] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188615112	188615113	rs10012750	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs10012750-A	0.9098	5E-6	(Trans/trans-18:2, EA)	0.002	[0.0012-0.0028] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188615606	188615607	rs9992966	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs9992966-T	0.0899	5E-6	(Trans/trans-18:2, EA)	0.002	[0.0012-0.0028] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188617323	188617324	rs7694110	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs7694110-A	0.911	5E-6	(Trans/trans-18:2, EA)	0.002	[0.0012-0.0028] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188617357	188617358	rs7672520	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs7672520-T	0.9124	4E-6	(Trans/trans-18:2, EA)	0.002	[0.0012-0.0028] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188617868	188617869	rs9714717	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs9714717-A	0.0866	4E-6	(Trans/trans-18:2, EA)	0.0021	[0.0013-0.0029] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188618035	188618036	rs13149971	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs13149971-T	0.9154	4E-6	(Trans/trans-18:2, EA)	0.0021	[0.0011-0.0031] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188618924	188618925	rs10030764	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs10030764-T	0.0867	3E-6	(Trans/trans-18:2, EA)	0.0021	[0.0011-0.0031] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188619448	188619449	rs10031224	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs10031224-T	0.0866	4E-6	(Trans/trans-18:2, EA)	0.0021	[0.0011-0.0031] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188619699	188619700	rs2174496	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs2174496-A	0.9135	3E-6	(Trans/trans-18:2, EA)	0.0021	[0.0011-0.0031] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188619970	188619971	rs6836250	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs6836250-A	0.0863	3E-6	(Trans/trans-18:2, EA)	0.0021	[0.0011-0.0031] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188620343	188620344	rs6836750	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs6836750-A	0.0858	3E-6	(Trans/trans-18:2, EA)	0.0022	[0.0012-0.0032] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188620382	188620383	rs6836899	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs6836899-T	0.0857	3E-6	(Trans/trans-18:2, EA)	0.0022	[0.0012-0.0032] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188620750	188620751	rs2376264	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs2376264-C	0.9143	3E-6	(Trans/trans-18:2, EA)	0.0022	[0.0012-0.0032] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188620908	188620909	rs2376265	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs2376265-A	0.0863	4E-6	(Trans/trans-18:2, EA)	0.0023	[0.0013-0.0033] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188623954	188623955	rs13103223	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs13103223-T	0.9142	3E-6	(Trans/trans-18:2, EA)	0.0023	[0.0013-0.0033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188624394	188624395	rs10014313	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs10014313-T	0.9143	3E-6	(Trans/trans-18:2, EA)	0.0023	[0.0013-0.0033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188624665	188624666	rs6821057	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs6821057-C	0.9144	3E-6	(Trans/trans-18:2, EA)	0.0023	[0.0013-0.0033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
2024	chr4	188624961	188624962	rs6821987	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	4q35.2	NR	rs6821987-C	0.0855	3E-6	(Trans/trans-18:2, EA)	0.0023	[0.0013-0.0033] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
2025	chr4	188841485	188841486	rs28375794	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	4q35.2	LOC644325, LOC389249	rs28375794-G	0.033	1E-6		3.76	[2.12-6.66]	Illumina [1556551]	N
2027	chr4	189015401	189015402	rs10031466	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	4q35.2	NR	rs10031466-?	NR	1E-6	(Latino)	0.2396	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
2027	chr4	189120910	189120911	rs6857559	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		4q35.2	intergenic	rs6857559-?	0.620	3E-21			[NR]	Affymetrix, Illumina [152234]	N
2028	chr4	189180958	189180959	rs112226039	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	4q35.2	NR	rs112226039-?	NR	7E-8		0.1868	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
2028	chr4	189191110	189191111	rs71607999	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	4q35.2	TRIML1	rs71607999-?	0.165	7E-9	(S-DCT/S-CT ratio, adjusted for CYP2C19)			Illumina [7537437] (imputed)	N
2030	chr4	189498063	189498064	rs7666129	25574032	Lee H	2015-01-08	Hum Reprod	Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome.	Polycystic ovary syndrome	976 Korean ancestry cases, 946 Korean ancestry controls	249 Korean ancestry cases, 778 Korean ancestry controls	4q35.2	TRIML1, TRIML2	rs7666129-A	0.75	6E-6		1.59	[NR]	Illumina [636870]	N
2031	chr4	189565169	189565170	rs6834498	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	4q35.2	intergenic	rs6834498-A	0.181	5E-6	(Temperament)	0.16	[NR] unit decrease	Affymetrix [677643]	N
2031	chr4	189584352	189584353	rs7686384	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	4q35.2	RPL7AP27	rs7686384-A	0.129	6E-6	(Cortisol )	0.01	[NR] ng/mL increase	Illumina [899892]	N
2031	chr4	189587078	189587079	rs7659062	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	4q35.2	AC093909.2	rs7659062-?	NR	9E-6	(Immediate Story Recall)			Illumina [up to 563855]	N
2031	chr4	189587078	189587079	rs7659062	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	4q35.2	AC093909.2	rs7659062-?	NR	8E-6	(Delayed Story Recall)			Illumina [up to 563855]	N
2031	chr4	189590858	189590859	rs7662358	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	4q35.2	AC093909.2	rs7662358-?	NR	9E-6	(Immediate Story Recall)			Illumina [up to 563855]	N
2031	chr4	189590858	189590859	rs7662358	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	4q35.2	AC093909.2	rs7662358-?	NR	8E-6	(Delayed Story Recall)			Illumina [up to 563855]	N
2033	chr4	189826650	189826651	rs62343714	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	4q35.2	LOC401164	rs62343714-T	NR	1E-6	(%LAA-950, All)	0.12	[0.049-0.191] unit increase	Illumina [7600000] (imputed)	N
2033	chr4	189861250	189861251	rs11731175	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	4q35.2	intergenic	rs11731175-T		5E-6	(Modelling analysis)	1.06	[1.03-1.09]	NR [1252901] (imputed)	N
2035	chr4	190123317	190123318	rs7665939	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	4q35.2	intergenic	rs7665939-?	0.11	9E-6	(Meta)	1.2346	[1.11-1.39]	Illumina [254145]	N
2038	chr4	190538062	190538063	rs13145041	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	4q35.2	FRG1	rs13145041-A	0.78	7E-7	(Age 20-60 years)	1.65	[1.35-2.00]	Affymetrix, Illumina [up to 17585496] (imputed)	N
2039	chr4	190641169	190641170	rs11132733	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Testosterone levels	1,589 European ancestry female individuals	NA	4q35.2	intergenic	rs11132733-T	0.17	3E-6		0.225	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
588	chr5	428235	428236	rs12188164	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	5p15.33	AHRR	rs12188164-A	0.38	4E-6				Illumina [~ 2609000] (imputed)	N
588	chr5	438101	438102	rs10078	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	5p15.33	AHRR	rs10078-C	0.23	7E-6	(univariate, arm)			Illumina [319818]	N
588	chr5	457260	457261	rs11749327	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	5p15.33	EXOC3	rs11749327-C	0.707	9E-9		1.25	[NR]	Illumina [8207076] (imputed)	N
589	chr5	583441	583442	rs4957048	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	5p15.33	CEP72, TPPP	rs4957048-C	NR	1E-9		1.11	[NR]	Illumina [266047]	N
589	chr5	594082	594083	rs11739663	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p15.33	NR	rs11739663-A	0.77	2E-6	(EA)	1.0785052		Affymetrix, Illumina [~ 9000000] (imputed)	N
589	chr5	594082	594083	rs11739663	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	5p15.33	SLC9A3	rs11739663-T	0.76	2E-8		1.071	[1.027-1.117]	Affymetrix, Illumina [1230000] (imputed)	N
589	chr5	594082	594083	rs11739663	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	5p15.33	EXOC3	rs11739663-T	0.77	3E-8		1.15	[1.09-1.21]	Affymetrix, Illumina [~ 1100000] (imputed)	N
589	chr5	610092	610093	rs924607	25710658	Diouf B	2015-02-24	JAMA	Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia.	Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia	53 European ancestry cases with peripheral neuropathy, 156 cases without peripheral neuropathy, 10 African ancestry cases with peripheral neuropathy, 33 African ancestry cases without peripheral neuropathy, 1 Asian ancestry case with peripheral neuropathy, 1 Asian ancestry case without peripheral neuropathy, 14 Hispanic cases with peripheral neuropathy, 30 Hispanic cases without peripheral neuropathy, 8 cases with peripheral neuropathy, 15 cases without peripheral neuropathy	NA	5p15.33	CEP72	rs924607-T	NR	6E-9		2.43	[1.70-3.49]	Affymetrix [1576016] (imputed)	N
589	chr5	618585	618586	rs7726839	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.33	CEP72	rs7726839-G	0.282	1E-6	(HDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
592	chr5	1015062	1015063	rs16870629	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	5p15.33	NKD2	rs16870629-T	0.393	8E-6		0.45	[0.25-0.65] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
593	chr5	1113243	1113244	rs4580814	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin concentration	14,377 Japanese ancestry individuals	NA	5p15.33	SLC12A7	rs4580814-T	0.26	5E-10		0.083	[0.058-0.108] unit decrease	Illumina [561583]	N
594	chr5	1279789	1279790	rs10069690	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	5p15.33	TERT	rs10069690-A	0.26	9E-9		1.14	[1.10-1.19]	Illumina [up to 10962898] (imputed)	N
594	chr5	1279789	1279790	rs10069690	24325915	Purrington KS	2013-12-09	Carcinogenesis	Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.	Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative)	1,529 European ancestry cases, 3,399 European ancestry controls	2,148 European ancestry cases, 1,309 European ancestry controls	5p15.33	TERT	rs10069690-A		1E-7		1.24	[1.14-1.34]	Illumina [NR] (imputed)	N
594	chr5	1279789	1279790	rs10069690	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	5p15.33	TERT	rs10069690-T	0.321	5E-12		1.15	[1.11-1.20]	Illumina [NR]	N
594	chr5	1279789	1279790	rs10069690	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	5p15.33	TERT	rs10069690-T	0.26	7E-9		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
594	chr5	1279789	1279790	rs10069690	22037553	Haiman CA	2011-10-30	Nat Genet	A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.	Breast cancer	1,004 African American cases, 2,745 African American controls,1,718 European ancestry cases, 3,670 European ancestry controls	2,292 European ancestry cases, 16,901 European ancestry controls	5p15.33	TERT	rs10069690-T	0.26	1E-10		1.18	[1.13-1.25]	Illumina [3154485] (imputed)	N
594	chr5	1280027	1280028	rs2242652	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	5p15.33	TERT	rs2242652-G	0.81	3E-24		1.15	[1.11-1.19]	NR [2600000] (imputed)	N
594	chr5	1282413	1282414	rs7725218	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	5p15.33	TERT, hTERT	rs7725218-G	0.64	3E-11		1.15	[1.10-1.19]	Illumina [1531807] (imputed)	N
594	chr5	1286515	1286516	rs2736100	24908248	Walsh KM	2014-06-08	Nat Genet	Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.	Glioma (high-grade)	1,013 European ancestry cases, 6,595 European ancestry controls	631 European ancestry cases, 1,141 European ancestry controls	5p15.33	TERT	rs2736100-C	0.51	1E-15		1.39	[1.28-1.50]	Affymetrix, Illumina [2362330] (imputed)	N
594	chr5	1286515	1286516	rs2736100	24465473	Liu Y	2014-01-21	PLoS One	A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.	Telomere length	2,632 Han Chinese ancestry individuals	3,917 Han Chinese ancestry individuals, 696 European ancestry individuals	5p15.33	TERT	rs2736100-C	NR	4E-6		0.0808	[NR] unit increase	Affymetrix [585206]	N
594	chr5	1286515	1286516	rs2736100	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	5p15.33	TERT	rs2736100-A	0.49	2E-19		1.37	[1.27-1.49]	Illumina [439828]	N
594	chr5	1286515	1286516	rs2736100	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	5p15.33	TERT, hTERT	rs2736100-G	0.40	4E-27		1.38	[1.30-1.47]	Illumina [596032]	N
594	chr5	1286515	1286516	rs2736100	22886559	Rajaraman P	2012-08-11	Hum Genet	Genome-wide association study of glioma and meta-analysis.	Glioma	1,856 European ancestry cases, 4,955 European ancestry controls	5,015 European ancestry cases, 11,601 European ancestry controls	5p15.33	TERT	rs2736100-G	0.494	4E-9		1.3	[1.19-1.41]	Illumina [559977]	N
594	chr5	1286515	1286516	rs2736100	21827660	Yang TH	2011-08-09	BMC Med Genomics	Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk.	Glioma	781 European ancestry cases, 3,992 European ancestry controls	NA	5p15.33	TERT	rs2736100-?	NR	7E-9				Illumina [489781]	N
594	chr5	1286515	1286516	rs2736100	21725308	Hu Z	2011-07-03	Nat Genet	A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.	Lung cancer	2,331 Han Chinese ancestry cases, 3,077 Han Chinese ancestry controls	6,313 Han Chinese ancestry cases, 6,409 Han Chinese ancestry controls	5p15.33	TERT	rs2736100-C	0.41	1E-27		1.27	[1.22-1.33]	Affymetrix [906703]	N
594	chr5	1286515	1286516	rs2736100	21531791	Sanson M	2011-04-29	Hum Mol Genet	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	Glioma	4,147 European ancestry cases, 7,435 European ancestry controls	NA	5p15.33	TERT	rs2736100-?	NR	1E-14		1.25	[NR]	Illumina [424460]	N
594	chr5	1286515	1286516	rs2736100	20871597	Miki D	2010-09-26	Nat Genet	Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.	Lung adenocarcinoma	1,004 Japanese ancestry cases, 1,900 Japanese ancestry controls	1,094 East Asian ancestry cases, 9,148 East Asian ancestry controls	5p15.33	TERT	rs2736100-C	0.39	3E-11		1.27	[1.19-1.37]	Illumina [432024]	N
594	chr5	1286515	1286516	rs2736100	20700438	Hsiung CA	2010-08-05	PLoS Genet	The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.	Lung adenocarcinoma	584 East Asian ancestry cases, 585 East Asian ancestry controls	2,184 East Asian ancestry cases, 2,515 East Asian ancestry controls	5p15.33	TERT, CLPTM1L	rs2736100-G	0.39	2E-22		1.46	[1.35-1.57]	Illumina [457504]	N
594	chr5	1286515	1286516	rs2736100	20543847	Turnbull C	2010-06-13	Nat Genet	Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.	Testicular germ cell cancer	979 European ancestry cases, 4,947 European ancestry controls	664 European ancestry cases, 3,456 European ancestry controls	5p15.33	TERT	rs2736100-T	0.49	8E-15		1.33	[1.18-1.50]	Illumina [298782]	N
594	chr5	1286515	1286516	rs2736100	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Red blood cell count	14,392 Japanese ancestry individuals	NA	5p15.33	TERT	rs2736100-G	0.4	3E-8		0.067	[0.043-0.091] unit increase	Illumina [561583]	N
594	chr5	1286515	1286516	rs2736100	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	5p15.33	TERT	rs2736100-G	0.50	2E-10		1.12	[1.08-1.16]	Illumina [515922]	N
594	chr5	1286515	1286516	rs2736100	19578367	Shete S	2009-07-05	Nat Genet	Genome-wide association study identifies five susceptibility loci for glioma.	Glioma	1,878 European ancestry cases, 3,670 European ancestry controls	2,545 European ancestry cases, 2,953 European ancestry controls	5p15.33	TERT	rs2736100-G	0.49	2E-17		1.27	[1.19-1.37]	Illumina [454576]	N
594	chr5	1286515	1286516	rs2736100	18835860	Mushiroda T	2008-10-01	J Med Genet	A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis.	Idiopathic pulmonary fibrosis	159 Japanese ancestry cases, 934 Japanese ancestry controls	83 Japanese ancestry cases, 535 Japanese ancestry controls	5p15.33	TERT	rs2736100-A	0.41	3E-8		2.11	[1.61-2.78]	Illumina [214508]	N
594	chr5	1287193	1287194	rs2853677	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	5p15.33	TERT	rs2853677-C	0.30	3E-40		1.41	[1.32-1.50]	Illumina [538166]	N
594	chr5	1288546	1288547	rs2853676	19578367	Shete S	2009-07-05	Nat Genet	Genome-wide association study identifies five susceptibility loci for glioma.	Glioma	1,878 European ancestry cases, 3,670 European ancestry controls	2,545 European ancestry cases, 2,953 European ancestry controls	5p15.33	TERT	rs2853676-A	0.73	4E-14		1.26	[1.20-1.32]	Illumina [454576]	N
594	chr5	1294085	1294086	rs2736098	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls	5p15.33	ZDHHC11, BRD9, TRIP13, LOC100506688, NKD2, SLC12A7, MIR4635, SLC6A19, SLC6A18, MIR4457, TERT, SLC6A3, LPCAT1, CLPTM1L, SDHAP3, LOC728613, MIR4277	rs2736098-C	0.716	1E-13		1.25	[1.18-1.32]	Illumina [608202]	N
594	chr5	1308551	1308552	rs4635969	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	5p15.33	TERT, CLPTM1L	rs4635969-T	0.2	5E-24		1.39	[1.25-1.54]	Illumina [307291]	N
594	chr5	1308551	1308552	rs4635969	20543847	Turnbull C	2010-06-13	Nat Genet	Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.	Testicular germ cell cancer	979 European ancestry cases, 4,947 European ancestry controls	664 European ancestry cases, 3,456 European ancestry controls	5p15.33	TERT, CLPTM1L	rs4635969-T	0.19	1E-23		1.54	[1.33-1.79]	Illumina [298782]	N
595	chr5	1315659	1315660	rs4975616	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	5p15.33	CLPTM1L	rs4975616-?	NR	3E-9		1.15	[1.10-1.20]	Illumina [511919]	N
595	chr5	1320721	1320722	rs402710	18978790	McKay JD	2008-11-02	Nat Genet	Lung cancer susceptibility locus at 5p15.33.	Lung cancer	2,971 European ancestry cases, 3,746 European ancestry controls	2,899 European ancestry cases, 5,573 European ancestry controls	5p15.33	TERT, CLPTM1L	rs402710-C	NR	4E-6		1.18	[1.12-1.24]	Illumina [315194]	N
595	chr5	1322086	1322087	rs401681	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	5p15.33	CLPTM1L	rs401681-?	NR	3E-8		1.2	[1.13-1.28]	Illumina [866891] (imputed)	N
595	chr5	1322086	1322087	rs401681	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	5p15.33	TERT	rs401681-C	0.546	9E-13		1.21	[NR]	Illumina [24988228] (imputed)	N
595	chr5	1322086	1322087	rs401681	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	5p15.33	TERT	rs401681-C		2E-12		1.23	[1.16-1.30]	Illumina [38500000] (imputed)	N
595	chr5	1322086	1322087	rs401681	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	5p15.33	TERT, CLPTML	rs401681-C	0.54	4E-11		1.12	[1.08-1.16]	Illumina [462190]	N
595	chr5	1322086	1322087	rs401681	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	5p15.33	TERT, CLPTM1L	rs401681-A	0.46	3E-8		1.2	[1.12-1.28]	Illumina [594997]	N
595	chr5	1322086	1322087	rs401681	21160077	Gudmundsson J	2010-12-15	Sci Transl Med	Genetic correction of PSA values using sequence variants associated with PSA levels.	Serum prostate-specific antigen levels	7,538 European ancestry individuals	2,373 European ancestry individuals	5p15.33	TERT	rs401681-C	0.55	1E-10		7.0	[NR] % increase	Illumina [304070]	N
595	chr5	1322086	1322087	rs401681	20972438	Rothman N	2010-10-24	Nat Genet	A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.	Bladder cancer	3,532 European ancestry cases, 5,120 European ancestry controls	8,381 cases, 48,275 controls	5p15.33	TERT, CLPTM1L	rs401681-C	0.54	5E-7		1.11	[1.07-1.16]	Illumina [589299]	N
595	chr5	1322086	1322087	rs401681	20101243	Petersen GM	2010-01-24	Nat Genet	A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.	Pancreatic cancer	3,851 European, Chinese and other ancestry cases, 3,934 European, Chinese and other ancestry controls	NA	5p15.33	CLPTM1L	rs401681-T	0.45	7E-7		1.19	[1.11-1.27]	Illumina [551766]	N
595	chr5	1322086	1322087	rs401681	19151717	Rafnar T	2009-01-18	Nat Genet	Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.	Basal cell carcinoma	1,505 European ancestry cases, 28,890 European ancestry controls	1,060 European ancestry cases, 515 European ancestry controls	5p15.33	TERT, CLPTM1L	rs401681-C	0.56	4E-12		1.25	[1.18-1.34]	Illumina [302140]	N
595	chr5	1322086	1322087	rs401681	18978787	Wang Y	2008-11-02	Nat Genet	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.	Lung cancer	5,095 European ancestry cases, 5,200 European ancestry cases	2,448 European ancestry cases, 2,983 European ancestry controls	5p15.33	CLPTM1L	rs401681-G	NR	8E-9		1.15	[1.09-1.19]	Illumina [223891]	N
595	chr5	1342713	1342714	rs31489	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	5p15.33	CLPTM1L	rs31489-C	0.59	2E-10		1.12	[1.09-1.16]	Illumina [515922]	N
595	chr5	1344457	1344458	rs31490	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls	5p15.33	CLPTM1L	rs31490-?	NR	2E-11		1.2	[1.14-1.27]	Illumina [608202]	N
595	chr5	1344457	1344458	rs31490	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	5p15.33	CLPTM1L	rs31490-A		2E-7		1.18	[1.11-1.26]	Illumina [450000] (imputed)	N
599	chr5	1877279	1877280	rs4975709	21779381	Schurks M	2011-07-14	PLoS One	Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.	Cardiovascular disease risk factors	5,122 European ancestry female migrain cases	NA	5p15.33	IRX4	rs4975709-?	NR	8E-7	(migraineurs with aura - ischemic stroke)	5.06	[2.66-9.62]	Illumina [339596]	N
599	chr5	1895828	1895829	rs12653946	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	5p15.33	IRX4	rs12653946-A	NR	2E-12		1.2820514	[NR]	Illumina [4550396] (imputed)	N
599	chr5	1895828	1895829	rs12653946	22923026	Cheng I	2012-08-24	Cancer Epidemiol Biomarkers Prev	Evaluating genetic risk for prostate cancer among Japanese and Latinos.	Prostate cancer	1,033 Japanese ancestry cases, 1,042 Japanese ancestry controls, 1,043 Latino cases, 1,057 Latino controls	1,583 Japanese ancestry cases, 3,386 Japanese ancestry  controls, 1,854 European ancestry cases, 3,748 European ancestry controls	5p15.33	NR	rs12653946-T	0.43	3E-7	(Japanese)	1.39	[1.22-1.57]	Illumina [528023]	N
599	chr5	1895828	1895829	rs12653946	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	5p15.33	intergenic	rs12653946-T	0.44	4E-18		1.26	[1.20-1.33]	Illumina [510687]	N
601	chr5	2109900	2109901	rs6879627	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	5p15.33	LOC731559	rs6879627-G	0.52	8E-6	(allelic)	1.25	[1.14-1.39]	Illumina [420236]	N
601	chr5	2149209	2149210	rs7379133	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	5p15.33	intergenic	rs7379133-?	NR	8E-6		0.1113	[0.062-0.160] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
602	chr5	2294687	2294688	rs316577	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	5p15.33	NR	rs316577-A	NR	5E-6		0.23	[0.13-0.33] unit decrease	NR [5896100] (imputed)	N
602	chr5	2335580	2335581	rs17586674	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	5p15.33	AC138982.2	rs17586674-?	NR	5E-6	(Colorword)			Illumina [up to 563855]	N
603	chr5	2448589	2448590	rs4866650	25140149	Hohman TJ	2014-08-04	Front Aging Neurosci	Genetic variation modifies risk for neurodegeneration based on biomarker status.	Left inferior lateral ventricle volume (Cerebrospinal fluid biomarker status interaction)	382 European ancestry mild cognitive impairment cases, 114 European ancestry Alzheimer's disease cases, 194 European ancestry controls	NA	5p15.33	intergenic	rs4866650-?		1E-9	(Dilation, amyloid positive)	6.15	[NR] unit increase interaction	Illumina [296267]	N
605	chr5	2664477	2664478	rs75778424	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5p15.33	NR	rs75778424-?	NR	2E-6		0.3107	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
605	chr5	2724361	2724362	rs2173226	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.33	intergenic	rs2173226-G	0.342	8E-6	(Hip circumference change )	0.03	[NR] cm/y increase	Illumina [899892]	N
606	chr5	2788905	2788906	rs7702905	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	5p15.33	IRX2, C5orf38	rs7702905-A	0.28	8E-6		0.017	[0.0092-0.0248] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
608	chr5	3092191	3092192	rs6873793	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	5p15.33	NR	rs6873793-C	0.40	1E-6		1.47	[0.88-2.06] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
609	chr5	3276695	3276696	rs61670327	23962720	Speed D	2013-08-19	Hum Mol Genet	A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.	Epilepsy (remission after treatment)	889 European and unknown ancestry epilepsy cases	NA	5p15.33	NR	rs61670327-A	0.52	7E-7		1.7241	[NR]	Illumina [6923995] (imputed)	N
612	chr5	3558537	3558538	rs10512697	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	5p15.33	IRX1	rs10512697-?		9E-7	(Hispanic)			Illumina [NR]	N
615	chr5	3939475	3939476	rs492478	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	5p15.33	AC025187.6	rs492478-?	NR	4E-6	(Colorword)			Illumina [up to 563855]	N
615	chr5	4029788	4029789	rs11748327	21107343	Aoki A	2010-11-25	J Hum Genet	SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population.	Myocardial infarction	194 Japanese ancestry cases, 1,539 Japanese ancestry controls	5,177 Japanese ancestry cases, 6,220 Japanese ancestry controls	5p15.33	intergenic	rs11748327-?	NR	5E-13		1.25	[1.18-1.33]	Perlegen [210785]	N
616	chr5	4194198	4194199	rs4702522	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs4702522-?		6E-6		0.2678	[0.15-0.38] unit decrease	Illumina [> 269840] (imputed)	N
617	chr5	4196494	4196495	rs10043296	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs10043296-?		5E-6		0.2778	[0.16-0.40] unit increase	Illumina [> 269840] (imputed)	N
617	chr5	4197671	4197672	rs6555254	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs6555254-?		5E-6		0.2798	[0.16-0.40] unit decrease	Illumina [> 269840] (imputed)	N
617	chr5	4197973	4197974	rs10079205	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs10079205-?		5E-6		0.2855	[0.16-0.41] unit decrease	Illumina [> 269840] (imputed)	N
617	chr5	4198116	4198117	rs6555259	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs6555259-?		5E-6		0.2156	[0.10-0.33] unit decrease	Illumina [> 269840] (imputed)	N
617	chr5	4198373	4198374	rs6555260	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs6555260-?		4E-6		0.2931	[0.17-0.42] unit increase	Illumina [> 269840] (imputed)	N
617	chr5	4198435	4198436	rs6555261	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs6555261-?		4E-6		0.2207	[0.11-0.34] unit decrease	Illumina [> 269840] (imputed)	N
617	chr5	4198544	4198545	rs6555262	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs6555262-?		5E-6		0.2957	[0.17-0.42] unit decrease	Illumina [> 269840] (imputed)	N
617	chr5	4198821	4198822	rs6882308	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs6882308-?		4E-6		0.3065	[0.18-0.44] unit decrease	Illumina [> 269840] (imputed)	N
617	chr5	4199755	4199756	rs10036180	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs10036180-?		4E-6		0.311	[0.18-0.44] unit increase	Illumina [> 269840] (imputed)	N
617	chr5	4199932	4199933	rs10036225	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs10036225-?		4E-6		0.3221	[0.18-0.46] unit decrease	Illumina [> 269840] (imputed)	N
617	chr5	4200603	4200604	rs7712941	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs7712941-?		4E-6		0.3221	[0.18-0.46] unit increase	Illumina [> 269840] (imputed)	N
617	chr5	4201143	4201144	rs6894281	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs6894281-?		4E-6		0.3277	[0.19-0.47] unit decrease	Illumina [> 269840] (imputed)	N
617	chr5	4201730	4201731	rs6555263	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs6555263-?		4E-6		0.3285	[0.19-0.47] unit increase	Illumina [> 269840] (imputed)	N
617	chr5	4201763	4201764	rs6555264	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	5p15.33	NR	rs6555264-?		4E-6		0.3285	[0.19-0.47] unit increase	Illumina [> 269840] (imputed)	N
619	chr5	4488244	4488245	rs10462794	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	5p15.32	RP11-44503.2	rs10462794-C	0.24	5E-6	(IGF2-DMR)			Illumina [515966]	N
621	chr5	4720584	4720585	rs7727102	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5p15.32	NR	rs7727102-?	NR	1E-6		1.3053	[NR]	Affymetrix [722112]	N
621	chr5	4831600	4831601	rs816475	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	Heart rate	455 African American individuals	NA	5p15.32	intergenic	rs816475-T		3E-6		3.69	[NR] ms increase	Illumina [> 930000]	N
625	chr5	5260682	5260683	rs7704641	25524241	Richter HE	2014-12-15	J Urol	Genetic Contributions to Urgency Urinary Incontinence in Women.	Urgency urinary incontinence	1,102 European ancestry cases, 405 European ancestry controls	1,133 European ancestry cases, 371 European ancestry controls	5p15.32	ADAMTS16	rs7704641-?	NR	2E-7		1.37	[1.22-1.54]	Illumina [9077347] (imputed)	N
625	chr5	5297199	5297200	rs16875288	24039173	McGrath LM	2013-09-13	Am J Med Genet B Neuropsychiatr Genet	Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia.	Functional impairment in major depressive disorder, bipolar disorder and schizophrenia	2,246 European ancestry individuals	NA	5p15.32	ADAMTS16	rs16875288-?	NR	6E-8	(PCS)			Affymetrix [1633452] (imputed)	N
625	chr5	5320255	5320256	rs3806872	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	5p15.32		rs3806872-?,rs16875333-?	NR	3E-6	(Haplotype-?????)			Illumina [1006480]	N
625	chr5	5324982	5324983	rs16875333	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	5p15.32		rs3806872-?,rs16875333-?	NR	3E-6	(Haplotype-?????)			Illumina [1006480]	N
626	chr5	5407813	5407814	rs2964475	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)	83 Japanese ancestry cases, 370 Japanese ancestry controls	NA	5p15.32	KIAA0947	rs2964475-C	0.415	4E-6	(Allelic model)	2.248	[1.592-3.174]	Illumina [733202]	N
629	chr5	5792506	5792507	rs32566	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Morbidity-free survival	558 individuals	NA	5p15.32	intergenic	rs32566-?	NR	2E-9				Affymetrix [70897]	N
629	chr5	5822646	5822647	rs3852160	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Mean arterial pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	5p15.32	intergenic	rs3852160-C	0.39	2E-6	(Days drinks/week)	0.526	[0.34-0.71] unit increase	Affymetrix [2500000] (imputed)	N
629	chr5	5897693	5897694	rs7728043	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	5p15.32	intergenic	rs7728043-G	0.48	1E-6		0.14	[0.08-0.20] unit decrease	Illumina [~ 318327]	N
633	chr5	6324292	6324293	rs12518614	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	5p15.31	FLJ33360	rs12518614-A	0.954	2E-9	(vWF)	0.463	[0.31-0.61] unit decrease	Illumina [NR] (imputed)	N
633	chr5	6353814	6353815	rs10040610	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	5p15.31	intergenic	rs10040610-?		8E-6	(overall survival)	1.96	[1.46-2.63]	Illumina [729737]	N
635	chr5	6599221	6599222	rs6876835	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5p15.31	SRD5A1, NSUN2	rs6876835-A	0.58	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
635	chr5	6635590	6635591	rs472402	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	5p15.31	SRD5A1	rs472402-?	NR	3E-7	(SF2)			Affymetrix [5476100] (imputed)	N
636	chr5	6767311	6767312	rs12520016	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Eye color	3871 European ancestry individuals	2,496 European ancestry individuals	5p15.31	POLS	rs12520016-G	NR	9E-7	(Intermediate/Green eye color)	0.42	[0.26-0.58] unit increase	Affymetrix, Illumina [2469762] (imputed)	N
636	chr5	6813936	6813937	rs275456	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		5p15.31	PAPD7	rs275456-A	0.24	3E-6		2.26	[1.60-3.18]	Illumina [518577]	N
637	chr5	6821913	6821914	rs1566039	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	5p15.31	PAPD7	rs1566039-?	NR	1E-8	(levels)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
637	chr5	6834166	6834167	rs11134178	18821564	Mick E	2008-09-26	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	105 European ancestry cases, 34 Hispanic cases, 26 African American cases, 22 cases	NA	5p15.31	intergenic	rs11134178-T	0.05	3E-6				Affymetrix [319722]	N
637	chr5	6879977	6879978	rs275437	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.31	intergenic	rs275437-A	0.494	3E-6	(TC )	0.04	[NR] mg/dL increase	Illumina [899892]	N
639	chr5	7155611	7155612	rs4702435	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.31	LOC442132	rs4702435-G	0.118	5E-6	(Dinner intake, adj EER )	0.04	[NR] kcal increase	Illumina [899892]	N
640	chr5	7228046	7228047	rs7729273	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	5p15.31	AC091951.3	rs7729273-?	0.1985	1E-6	(SSP)			Illumina [475971]	N
640	chr5	7243980	7243981	rs4537030	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Mean arterial pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	5p15.31	ADCY2	rs4537030-G	0.38	7E-7	(drinks/week)	0.087	[0.046-0.128] unit decrease	Affymetrix [2500000] (imputed)	N
641	chr5	7368844	7368845	rs13172324	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		5p15.31	intergenic	rs13172324-?	0.093	3E-10			[NR]	Affymetrix, Illumina [152234]	N
642	chr5	7519297	7519298	rs17826816	24618891	Muhleisen	2014-03-11	Nat Commun	Genome-wide association study reveals two new risk loci for bipolar disorder.	Bipolar disorder	9,747 European ancestry cases, 14,278 European ancestry controls	NA	5p15.31	ADCY2	rs17826816-G	NR	1E-8		1.14	[NR]	Illumina [2267487] (imputed)	N
643	chr5	7649859	7649860	rs4702484	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	5p15.31	MTRR, ADCY2	rs4702484-?	NR	6E-7				NR [~ 2000000]	N
643	chr5	7649859	7649860	rs4702484	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	5p15.31	MTRR, ADCY2	rs4702484-?	NR	5E-8	(EA)			NR [~ 2000000]	N
644	chr5	7816644	7816645	rs326155	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5p15.31	ADCY2	rs326155-G	0.01	4E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
650	chr5	8543189	8543190	rs1633735	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	5p15.31	SEMA5A, MTRR	rs1633735-T	0.25	3E-6	(PAR-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
650	chr5	8543189	8543190	rs1633735	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	5p15.31	SEMA5A, MTRR	rs1633735-T	0.25	3E-6	(PAR-dr)			Affymetrix, Illumina [NR] (imputed)	N
651	chr5	8652869	8652870	rs200113	22229870	Karns R	2012-01-09	Ann Hum Genet	Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.	Uric acid levels	1,300 European ancestry individuals	NA	5p15.31	SEMA5A	rs200113-C	0.10	7E-8		28.59	[NR] umol/L increase	Affymetrix [2241249] (imputed)	N
653	chr5	8983720	8983721	rs11134338	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.31	SEMA5A	rs11134338-A	0.131	8E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
656	chr5	9332280	9332281	rs7702187	16252231	Maraganore DM	2005-09-09	Am J Hum Genet	High-resolution whole-genome association study of Parkinson disease.	Parkinson's disease	381 European ancestry cases, 363 European ancestry controls, 62 cases,79 controls, 1 Asian ancestry control from 443 sibships	269 European ancestry cases, 272 European ancestry controls, 62 cases, 60 controls, 1 Asian ancestry case	5p15.31	SEMA5A	rs7702187-?	NR	8E-6		1.74	[1.36-2.24]	Perlegen [198345]	N
656	chr5	9357055	9357056	rs2463505	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5p15.31	NR	rs2463505-?	NR	3E-7	(AA)	1.1143	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
657	chr5	9474945	9474946	rs433755	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.31	SEMA5A	rs433755-C	0.451	5E-7	(Total cysteine )	0.03	[NR] umol/L increase	Illumina [899892]	N
658	chr5	9619863	9619864	rs77202753	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5p15.31	NR	rs77202753-?	NR	8E-7				Affymetrix [5486770] (imputed)	N
658	chr5	9623621	9623622	rs10513025	19812673	Weiss LA	2009-10-08	Nature	A genome-wide linkage and association scan reveals novel loci for autism.	Autism	1,553 cases from 1,031 families	2,073 trios	5p15.31	SEMA5A, TAS2R1	rs10513025-?	NR	2E-7		1.81	[NR]	Affymetrix [~ 365000]	N
659	chr5	9756328	9756329	rs7725217	23646285	Khor SS	2013-04-16	PeerJ	Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.	Hypersomnia (HLA-DQB1*06:02 negative)	125 Japanese ancestry cases, 562 Japanese ancestry controls		5p15.31	TAS2R1	rs7725217-C	0.223	1E-6	(dominant)	2.66	[1.78-3.98]	Affymetrix [508366] (imputed)	N
661	chr5	9979083	9979084	rs553169	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (smoking status interaction)	548 European ancestry ever smoking cases, 278 European ancestry ever smoking controls, 346 European ancestry never smoking cases, 247 European ancestry never smoking controls	NA	5p15.2	intergenic	rs553169-A	0.29	9E-6				Affymetrix [2543887] (imputed)	N
662	chr5	10159540	10159541	rs2009501	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	5p15.2	intergenic	rs2009501-C		2E-6		0.2964	unit decrease	Illumina [5767231] (imputed)	N
662	chr5	10169822	10169823	rs13361160	22956598	Peters MJ	2012-09-06	Ann Rheum Dis	Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region.	Pain	1,308 European ancestry female cases, 5,791 European ancestry female controls	1,480 European ancestry female cases, 7,989 European ancestry female controls	5p15.2	CCT5, FAM173B	rs13361160-C	0.435	5E-7		1.17	[1.10-1.24]	Illumina [2224068] (imputed)	N
664	chr5	10372617	10372618	rs2607292	22446040	Wang KS	2012-03-16	Gene	A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies.	Body mass index	5,218 European ancestry individuals	762 European ancestry individuals	5p15.2	MARCH6	rs2607292-T	0.1	4E-6		0.7684	[NR] unit increase	Illumina [up to 520531]	N
664	chr5	10464106	10464107	rs2967951	22446040	Wang KS	2012-03-16	Gene	A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies.	Body mass index	5,218 European ancestry individuals	762 European ancestry individuals	5p15.2	ROPN1L	rs2967951-T	0.1	1E-6		0.8064	[NR] unit increase	Illumina [up to 520531]	N
664	chr5	10467701	10467702	rs1092913	21424380	Sehrawat B	2011-03-19	Hum Genet	Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility.	Breast cancer	302 European ancestry female cases, 321 European ancestry female controls	1,153 European ancestry female cases, 1,215 European ancestry female controls	5p15.2	ROPN1L	rs1092913-T	0.13	2E-6		1.45	[1.24-1.69]	Affymetrix [782838]	N
665	chr5	10512696	10512697	rs111426949	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	5p15.2	intergenic	rs111426949-T		6E-6		0.2871	unit increase	Illumina [5767231] (imputed)	N
666	chr5	10671039	10671040	rs4702718	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.2	LOC645763	rs4702718-G	0.32	3E-6	(Diet carbohydrate )	0.04	[NR] %energy increase	Illumina [899892]	N
666	chr5	10689561	10689562	rs3776414	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p15.2	NR	rs3776414-?	NR	3E-14	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
666	chr5	10695525	10695526	rs2930047	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p15.2	NR	rs2930047-G	0.372	1E-7	(EA)	1.0703659	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
666	chr5	10695525	10695526	rs2930047	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p15.2	NR	rs2930047-G	0.372	1E-12	(EA)	1.0912733	[1.07-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
666	chr5	10695525	10695526	rs2930047	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	5p15.2	DAP	rs2930047-C	0.382	1E-8		1.065	[1.034-1.096]	Affymetrix, Illumina [1230000] (imputed)	N
666	chr5	10701513	10701514	rs3756407	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	5p15.2	DAP	rs3756407-A		5E-6		0.14	[0.2-0.08] unit increase	Affymetrix [~ 2500000] (imputed)	N
667	chr5	10752314	10752315	rs267939	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	5p15.2	DAP	rs267939-C	0.37	6E-12		1.1	[1.06-1.15]	Affymetrix, Illumina [~ 1100000] (imputed)	N
667	chr5	10797885	10797886	rs6882716	24277619	Quillen EE	2013-11-26	Am J Med Genet B Neuropsychiatr Genet	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Alcohol consumption (maxi-drinks)	272 Han Chinese ancestry individuals	NA	5p15.2	NR	rs6882716-?		2E-6		0.533	unit increase	Illumina [247725]	N
667	chr5	10811473	10811474	rs17176973	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5p15.2	NR	rs17176973-?	NR	5E-6		1.776	[NR]	Affymetrix [722112]	N
669	chr5	11084711	11084712	rs11744876	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	5p15.2	CTNND2	rs11744876-?	0.83	3E-8				Illumina [859311]	N
669	chr5	11111770	11111771	rs6884431	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	5p15.2	intergenic	rs6884431-?	NR	6E-6	(FEV1 decline in asthmatics)	0.1755	[0.100-0.251] unit decrease	Illumina [~ 2500000] (imputed)	N
670	chr5	11169944	11169945	rs6885224	21095009	Li YJ	2010-11-20	Ophthalmology	Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese.	Myopia (pathological)	65 Singaporean Chinese child cases, 238 Singaporean Chinese child controls, 222 Singaporean Chinese adult cases, 455 Singaporean Chinese adult cases	959 Japanese ancestry cases, 2,128 Japanese ancestry controls	5p15.2	CTNND2	rs6885224-C	0.26	8E-6		1.24	[1.11-1.39]	Illumina [459687]	N
671	chr5	11298222	11298223	rs2530215	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5p15.2	NR	rs2530215-?	NR	7E-6		1.2196	[NR]	Affymetrix [722112]	N
671	chr5	11304422	11304423	rs26478	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	5p15.2	CTNND2	rs26478-A	NR	8E-6		4.47	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
671	chr5	11366156	11366157	rs20476	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5p15.2	NR	rs20476-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
671	chr5	11371046	11371047	rs6887317	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	5p15.2	CTNND2	rs6887317-A	0.407	9E-6	(Ordinal I)	0.2466	[0.14-0.36] unit increase	Affymetrix, Illumina [NR] (imputed)	N
686	chr5	13242973	13242974	rs10066447	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5p15.2	DNAH5	rs10066447-T	0.23	7E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
688	chr5	13505431	13505432	rs4463179	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	5p15.2	DNAH5	rs4463179-?	NR	2E-6	(rs887391)	1.5625	[1.3-1.89]	Affymetrix, Illumina [1117531] (imputed)	N
689	chr5	13740975	13740976	rs6554809	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	5p15.2	DNAH5	rs6554809-C	0.84	3E-6		1.29	[1.16-1.43]	Affymetrix, Illumina [2217510] (imputed)	N
690	chr5	13764418	13764419	rs2896103	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Subclinical atherosclerosis traits (other)	Up to 984 individuals	NA	5p15.2	DNAH5	rs2896103-?	NR	5E-6	(ABI)			Affymetrix [70897]	N
690	chr5	13769973	13769974	rs7715811	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Subclinical atherosclerosis traits (other)	Up to 984 individuals	NA	5p15.2	DNAH5	rs7715811-?	NR	6E-6	(ABI)			Affymetrix [70897]	N
690	chr5	13779742	13779743	rs1502050	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Subclinical atherosclerosis traits (other)	Up to 984 individuals	NA	5p15.2	DNAH5	rs1502050-?	NR	9E-6	(ABI)			Affymetrix [70897]	N
690	chr5	13798558	13798559	rs795544	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		5p15.2	DNAH5	rs795544-?	0.17	1E-6		0.063	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
690	chr5	13859278	13859279	rs924633	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	5p15.2	DNAH5	rs924633-A	NR	9E-7	(%LAA-950, All)	0.18	[-0.00032-0.36032] unit increase	Illumina [7600000] (imputed)	N
692	chr5	14072056	14072057	rs163818	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)	57 Japanese ancestry cases, 63 Japanese ancestry controls	NA	5p15.2	TRIO	rs163818-C	0.02	6E-7	(Dominant)	11.5	[3.37-39.3]	Illumina [555600]	N
694	chr5	14393620	14393621	rs10065203	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		5p15.2	TRIO	rs10065203-A	0.40	4E-6		2.51	[1.69-3.71]	Illumina [518577]	N
695	chr5	14434263	14434264	rs17428704	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	5p15.2	TRIO	rs17428704-?	NR	6E-6	(Theta power, Cz)	0.16	[0.091-0.229] unit increase	Illumina [527829]	N
697	chr5	14752849	14752850	rs17250963	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	5p15.2	ANKH	rs17250963-A	0.217	7E-6	(Protein (control))			Affymetrix [590000]	N
697	chr5	14764933	14764934	rs706293	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	5p15.2	ANKH	rs706293-G	0.63	2E-6	(Women)	0.0110638635	[0.0065-0.0156] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
698	chr5	14876568	14876569	rs835154	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5p15.2	ANKH	rs835154-A	0.55	1E-10	(citrate)	0.012	[0.0081-0.0159] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
701	chr5	15285413	15285414	rs745978	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5p15.1	FBXL7	rs745978-C	0	7E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
702	chr5	15364483	15364484	rs1447276	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.1	LOC391741	rs1447276-A	0.116	2E-6	(Fat mass )	0.03	[NR] % increase	Illumina [899892]	N
703	chr5	15582004	15582005	rs1978633	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	5p15.1	FBXL7	rs1978633-T	NR	5E-6		0.09	[0.051-0.129] unit decrease	Illumina [628922]	N
704	chr5	15607447	15607448	rs16867528	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5p15.1	LOC402198, LOC391741	rs16867528-A	0.01	2E-8		7.39	[3.29-16.6]	Illumina [1556551]	N
704	chr5	15616675	15616676	rs76684306	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5p15.1	intergenic	rs76684306-G	0.011	10E-8		6.56	[2.97-14.49]	Illumina [1556551]	N
704	chr5	15618180	15618181	rs12659622	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.1	FBXL7	rs12659622-A	0.063	9E-7	(Total T3 )	0.03	[NR] ng/dL increase	Illumina [899892]	N
704	chr5	15669966	15669967	rs75002042	26339675	Tosto G	2015-06-18	Ann Clin Transl Neurol	F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease.	Alzheimer's disease (late onset)	2,451 Caribbean Hispanic cases, 2,063 Caribbean Hispanic controls	550 Caribbean Hispanic cases, 236 Caribbean Hispanic controls	5p15.1	FBXL7	rs75002042-T	0.92	5E-8	(adjusted for APOE)	1.59	[1.33-1.85]	Affymetrix, Illumina [8837542] (imputed)	N
705	chr5	15783499	15783500	rs16867713	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5p15.1	FBXL7, LOC391741, 11-Mar	rs16867713-G	0.01	7E-6		5.83	[2.45-13.86]	Illumina [1556551]	N
705	chr5	15783595	15783596	rs10044254	24486069	Park HW	2014-01-31	J Allergy Clin Immunol	Genetic predictors associated with improvement of asthma symptoms in response to inhaled corticosteroids.	Asthma (corticosteroid response)	124 European ancestry individuals	297 European ancestry individuals	5p15.1	FBXL7	rs10044254-?	0.18	9E-8		1.19	[NR] unit increase	Illumina [440862]	N
707	chr5	16038101	16038102	rs1039443	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5p15.1	NR	rs1039443-C	0.105031482310793	8E-6	(IGP50)	0.2223	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
709	chr5	16367637	16367638	rs6893207	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	5p15.1	ZNF622	rs6893207-G	0.021	3E-6	(HRTSE)	2.88	[1.66-4.1] unit decrease	Illumina [799713]	N
713	chr5	16812637	16812638	rs17651119	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	5p15.1	MYO10	rs17651119-C	0.99	2E-8	(% improvement - 12 weeks)	3.1807	[2.77-3.59]	Affymetrix, Illumina [1200000] (imputed)	N
714	chr5	16913854	16913855	rs17614462	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p15.1	MYO10	rs17614462-A	0.045	2E-6	(IGFBP-1 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
714	chr5	17003084	17003085	rs6870564	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	5p15.1	MYO10	rs6870564-A	0.13	4E-6	(EA-glucose response)	3.84	[2.21-5.47] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
715	chr5	17148910	17148911	rs682748	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	5p15.1	NR	rs682748-?	NR	8E-6				Illumina [516645]	N
716	chr5	17215443	17215444	rs2962370	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	5p15.1	BASP1	rs2962370-G	NR	5E-6		1.19	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
720	chr5	17791090	17791091	rs12514883	25628645	Tong Y	2015-01-13	Front Genet	Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs).	Response to Homoharringtonine (cytotoxicity)	93 African-American ancestry lymphoblastoid cell lines, 91 European ancestry lymphoblastoid cell lines, 94 Han Chinese ancestry lymphoblastoid cell lines	NA	5p15.1	intergenic	rs12514883-?		7E-6				Affymetrix, Illumina [6750581] (imputed)	N
721	chr5	17876400	17876401	rs76280858	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (age at onset)	5,148 European ancestry users	NA	5p15.1	NR	rs76280858-T		2E-6		0.21	[0.13-0.29] unit increase	NR [5896100] (imputed)	N
723	chr5	18186426	18186426	rs140236920	25963547	Wilson CL	2015-05-11	Cancer	Genetic and clinical factors associated with obesity among adult survivors of childhood cancer: A report from the St. Jude Lifetime Cohort.	Obesity in adult survivors of childhood cancer exposed to cranial radiation	365 obese individuals, 411 non-obese individuals	NA	5p15.1	CDH18, BASP1	rs140236920-?	0.46	1E-7		1.77	(1.43-2.20)	Affymetrix [NR] (imputed)	N
726	chr5	18483650	18483651	rs4866334	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5p14.3	NR	rs4866334-C	0.0883955067200712	4E-6	(IGP17)	0.2533	[0.15-0.36] unit decrease	Illumina [~ 2500000] (imputed)	N
729	chr5	18909674	18909675	rs11958034	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	5p14.3	CDH18	rs11958034-?	NR	5E-6	(Females)		[NR]	Illumina [283437]	N
733	chr5	19440167	19440168	rs349475	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	5p14.3	CDH18	rs349475-T	0.29	2E-6		0.18	[NR] unit increase	Affymetrix, Illumina [up to 2500000] (imputed)	N
740	chr5	20374212	20374213	rs73058713	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	5p14.3	intergenic	rs73058713-A	0.146	1E-8		1.19	[NR]	Illumina [4577171] (imputed)	N
747	chr5	21259137	21259138	rs1491921	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5p14.3	NUP50P3, LOC728411	rs1491921-C	0.013	7E-7		5.69	[2.63-12.33]	Illumina [1556551]	N
750	chr5	21749347	21749348	rs12109285	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	5p14.3	intergenic	rs12109285-?	0.011	1E-7	(CSJC , EA, RF+)	130.2	[NR] unit decrease	Illumina [534053]	N
751	chr5	21779153	21779154	rs4701252	19557197	Heard-Costa NL	2009-06-26	PLoS Genet	NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.	Waist circumference	31,373 European ancestry individuals	38,641 individuals	5p14.3	CDH12	rs4701252-?	NR	2E-6				Affymetrix, Illumina [up to 512349]	N
759	chr5	22812263	22812264	rs780179	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		5p14.3	NR	rs780179-G	0.48	9E-7	(t11;14 vs non t11;14)	1.59	[1.32-1.92]	Illumina [414804] (imputed)	N
762	chr5	23244024	23244025	rs17376026	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	5p14.3	intergenic	rs17376026-T	NR	6E-6		0.121	[0.068-0.174] unit decrease	Illumina [628922]	N
762	chr5	23301907	23301908	rs12517041	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	5p14.2	PRDM9	rs12517041-G	0.056	8E-7		0.00411	[0.0025-0.0057] unit increase	Affymetrix [1219546] (imputed)	N
764	chr5	23532642	23532643	rs6889665	21775986	Hinch AG	2011-07-20	Nature	The landscape of recombination in African Americans.	Recombination measurement	30,033 African American individuals	NA	5p14.2	PRDM9	rs6889665-?	0.71	2E-52	(Hotspot usage)			Affymetrix, Illumina [3058149] (imputed)	N
764	chr5	23532642	23532643	rs6889665	21775986	Hinch AG	2011-07-20	Nature	The landscape of recombination in African Americans.	Recombination measurement	30,033 African American individuals	NA	5p14.2	PRDM9	rs6889665-?	0.29	2E-246	(African-enrichment)			Affymetrix, Illumina [3058149] (imputed)	N
764	chr5	23542710	23542711	rs2914276	20981099	Kong A	2010-10-28	Nature	Fine-scale recombination rate differences between sexes, populations and individuals.	Recombination measurement (males)	4,389 European ancestry male individuals	NA	5p14.2	PRDM9	rs2914276-G	0.039	1E-50	(Fraction of recombinations in hotspots)			Illumina [497256] (imputed)	N
764	chr5	23542710	23542711	rs2914276	20981099	Kong A	2010-10-28	Nature	Fine-scale recombination rate differences between sexes, populations and individuals.	Recombination measurement (females)	6,041 European ancestry female individuals	NA	5p14.2	PRDM9	rs2914276-G	0.039	1E-100	(Fraction of recombinations in hotspots)			Illumina [497256] (imputed)	N
769	chr5	24162940	24162941	rs11742741	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	5p14.2	intergenic	rs11742741-A	0.515	3E-7		0.022	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
778	chr5	25420088	25420089	rs1904173	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5p14.1	NR	rs1904173-G	0.86006371714922	7E-6	(IGP32)	0.201	[0.11-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
780	chr5	25572300	25572301	rs6876547	24821223	Mattheisen M	2014-05-13	Mol Psychiatry	Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS.	Obsessive-compulsive disorder	1,406 cases and 1,489 controls from 1,065 families, 192 cases, 1,984 controls	NA	5p14.1	CDH10, MSNL1	rs6876547-?	NR	2E-6				Illumina [549123]	N
781	chr5	25692972	25692973	rs193741	23279374	Athanasiadis G	2013-01-02	J Thromb Haemost	Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.	&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels	306 European ancestry individuals	NA	5p14.1	CDH10, CDH9	rs193741-A	0.14	2E-6		0.64	unit decrease	Illumina [283437]	N
781	chr5	25760678	25760679	rs7727656	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	5p14.1	intergenic	rs7727656-?	NR	8E-6				Illumina [516645]	N
782	chr5	25841612	25841613	rs396045	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p14.1	intergenic	rs396045-A	0.247	7E-6	(Diet carbohydrate )	0.03	[NR] %energy increase	Illumina [899892]	N
782	chr5	25902341	25902342	rs10038113	19456320	Ma D	2009-05-28	Ann Hum Genet	A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.	Autism	1,390 European ancestry individuals from 438 families	2,390 European ancestry individuals from 457 families	5p14.1	intergenic	rs10038113-T	0.59	3E-6		1.33	[1.11-1.43]	Illumina [775311]	N
783	chr5	25967702	25967703	rs4307059	19404256	Wang K	2009-04-28	Nature	Common genetic variants on 5p14.1 associate with autism spectrum disorders.	Autism	3,101 European ancestry individuals from 780 families, 1,204 European ancestry cases, 6,491 European ancestry controls	1,390 European ancestry individuals from 447 families, 108 European ancestry cases, 540 European ancestry controls	5p14.1	CDH10, CDH9	rs4307059-T	0.61	2E-10		1.19	[NR]	Illumina [474019]	N
784	chr5	26139137	26139138	rs4701523	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5p14.1	CDH9	rs4701523-T	0.06	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
786	chr5	26389261	26389262	rs969088	22872573	Hu L	2012-08-07	Clin Cancer Res	Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.	Response to platinum-based chemotherapy in non-small-cell lung cancer	528 Han Chinese ancestry cases	340 Han Chinese ancestry cases, 409 European ancestry cases	5p14.1	CDH9	rs969088-C	NR	3E-6	(Han Chinese + EA)	1.4	[1.22-1.61]	NR [576351]	N
786	chr5	26389261	26389262	rs969088	22872573	Hu L	2012-08-07	Clin Cancer Res	Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.	Response to platinum-based chemotherapy in non-small-cell lung cancer	528 Han Chinese ancestry cases	340 Han Chinese ancestry cases, 409 European ancestry cases	5p14.1	CDH9	rs969088-C	NR	2E-6	(Han Chinese)	1.43	[1.24-1.66]	NR [576351]	N
788	chr5	26723782	26723783	rs4479806	21079607	Wang K	2010-11-16	Mol Psychiatry	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	Anorexia nervosa	1,033 European ancestry cases, 3,733 European ancestry controls	NA	5p14.1	CDH9	rs4479806-?	0.10	8E-6				Illumina [~ 598000]	N
789	chr5	26746382	26746383	rs116688600	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	5p14.1	intergenic	rs116688600-C0.0196	0.0196	9E-6		5.07	[4.35-5.79]	Illumina [8809853] (imputed)	N
790	chr5	26928065	26928066	rs10057565	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	5p14.1	CDH9	rs10057565-T	0.83	8E-6	(AA)	0.2	[0.12-0.28] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
794	chr5	27460204	27460205	rs10077887	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5p14.1	NR	rs10077887-?	NR	8E-6	(Native Hawaiian)	0.5383	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
795	chr5	27611430	27611431	rs12054895	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	5p14.1	intergenic	rs12054895-T	0.275456	3E-8	(% improvement - SSRI treated - 2 weeks)	0.2428	[0.16-0.33] unit increase	Affymetrix, Illumina [1200000] (imputed)	N
801	chr5	28340172	28340173	rs11949289	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	5p14.1	intergenic	rs11949289-T	0.42	2E-7	(Venlafaxine, Dizziness)			Affymetrix [421789]	N
803	chr5	28696503	28696504	rs16897978	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	5p14.1	NR	rs16897978-C	0.05	5E-6		1.53	[1.35-1.71]	Illumina [4058415] (imputed)	N
804	chr5	28747322	28747323	rs2548003	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	5p14.1	intergenic	rs2548003-?	NR	2E-7	(NeckZ1rf)			Affymetrix [70897]	N
806	chr5	29040120	29040121	rs488884	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	5p13.3	intergenic	rs488884-?	0.5	1E-6		1.1	[1.06-1.15]	Affymetrix, Illumina [~ 2300000] (imputed)	N
806	chr5	29054619	29054620	rs631844	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	5p13.3	intergenic	rs631844-T	0.05	7E-8		4.9	[NR]	Affymetrix [4893794] (imputed)	N
809	chr5	29368023	29368024	rs16898904	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	5p13.3	intergenic	rs16898904-T	0.054	8E-6	(Primary)	0.6617	[0.37-0.95] unit increase	Affymetrix, Illumina [NR] (imputed)	N
815	chr5	30179012	30179013	rs13178362	24755620	Perez-Palma E	2014-04-22	PLoS One	Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.	Alzheimer's disease	2,540 European ancestry cases, 2,029 European ancestry controls	NA	5p13.3	intergenic	rs13178362-T		7E-7		1.3333	[NR]	Affymetrix, Illumina [1216213] (imputed)	N
818	chr5	30558136	30558137	rs75094680	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	5p13.3	NR	rs75094680-A	NR	7E-6		3.5714285	[NR]	Illumina [up to 9792010] (imputed)	N
818	chr5	30661572	30661573	rs9292394	20709820	Kong X	2010-08-13	Am J Respir Crit Care Med	Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.	Emphysema-related traits	2,383 European ancestry cases	NA	5p13.3	CDH6	rs9292394-T	0.78	2E-6	(quantitative)	1.83	[NR] HU increase	Illumina [499578]	N
820	chr5	30836078	30836079	rs12652364	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	5p13.3	CDH6	rs12652364-A	NR	6E-7	(PhysVAS)	1.45	[0.88-2.02] unit decrease	Illumina [586062]	N
820	chr5	30899516	30899517	rs6871087	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	5p13.3	CTD-2127O16.1	rs6871087-G	NR	1E-6	(AA)	1.4	[0.79-2.01] unit increase	Affymetrix [~ 2300000] (imputed)	N
821	chr5	31020520	31020521	rs6888304	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	5p13.3	CDH6	rs6888304-A	0.74	1E-9		2.7	[2.00-3.50] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
827	chr5	31766432	31766433	rs2059865	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	5p13.3	PDZD2	rs2059865-?	0.235	3E-7	(S-DCT concentration)			Illumina [7537437] (imputed)	N
828	chr5	31917241	31917242	rs11957407	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	5p13.3	NR	rs11957407-?	NR	3E-6				NR [up to 8466825] (imputed)	N
828	chr5	31927316	31927317	rs7719829	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p13.3	PDZD2	rs7719829-A	0.395	4E-6	(Leptin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
829	chr5	32000482	32000483	rs10054504	23184150	Henrion M	2012-11-25	Hum Mol Genet	Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer.	Renal cell carcinoma	2,215 European ancestry cases, 8,566 European ancestry controls	3,739 European ancestry cases, 8,786 European ancestry controls	5p13.3	PDZD2	rs10054504-?	0.11	8E-7		1.37	[1.19-1.58]	Illumina [284377]	N
831	chr5	32278232	32278233	rs73069924	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	5p13.3	MTMR12	rs73069924-?	NR	8E-7	(% Change in score)	0.44	[NR] unit decrease	Illumina [~ 7000000] (imputed)	N
834	chr5	32689717	32689718	rs6450922	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	5p13.3	NPR3	rs6450922-C	0.75	1E-10		1.2	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
834	chr5	32689772	32689773	rs7729447	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	5p13.3	NPR3	rs7729447-G		3E-6	(EA, MAP, Age 50-59)	0.46	[0.26-0.66] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
834	chr5	32694941	32694942	rs7731703	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5p13.3	NPR3	rs7731703-T	0.318	4E-18		0.03	[0.024-0.036] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
834	chr5	32714269	32714270	rs1421811	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	5p13.3	NPR3	rs1421811-G		2E-7	(EA, SBP, Age 50-59)	0.69	[0.44-0.94] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
834	chr5	32748636	32748637	rs10061804	22116950	Schuh-Huerta SM	2011-11-24	Hum Reprod	Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.	Ovarian reserve	232 European ancestry female individuals, 200 African American female individuals	NA	5p13.3	NPR3	rs10061804-?		1E-6	(FSH levels - EA)			Affymetrix [677261]	N
835	chr5	32768633	32768634	rs3792752	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5p13.3	NPR3	rs3792752-?	NR	7E-10	(Conditioned on rs1173727)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
835	chr5	32804527	32804528	rs1173766	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	5p13.3	NPR3	rs1173766-C	0.60	2E-8	(Systolic)	0.63	[0.41-0.85] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
835	chr5	32804527	32804528	rs1173766	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	5p13.3	NPR3	rs1173766-C	0.60	1E-7	(Diastolic)	0.36	[0.22-0.50] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
835	chr5	32815027	32815028	rs1173771	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	5p13.3	C5orf23, NPR3	rs1173771-G	0.60	2E-16		0.504	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
835	chr5	32815027	32815028	rs1173771	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	5p13.3	C5orf23, NPR3	rs1173771-G	0.60	3E-10		0.062	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
835	chr5	32815027	32815028	rs1173771	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	5p13.3	C5orf23, NPR3	rs1173771-G	0.60	9E-12		0.261	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
835	chr5	32815027	32815028	rs1173771	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	5p13.3	C5orf23, NPR3	rs1173771-G	0.53	5E-9	(Pulse Pressure)	0.276	[0.18-0.37] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
835	chr5	32815027	32815028	rs1173771	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	5p13.3	C5orf23, NPR3	rs1173771-G	0.53	4E-9	(Mean Arterial Pressure)	0.283	[0.19-0.37] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
835	chr5	32819072	32819073	rs9292468	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5p13.3	C5orf23	rs9292468-T	0.399	2E-33		0.036	[0.03-0.042] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
835	chr5	32819072	32819073	rs9292468	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	5p13.3	C5orf23	rs9292468-T	0.4	2E-16		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
835	chr5	32830520	32830521	rs1173727	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5p13.3	NPR3	rs1173727-T	0.4	2E-21		0.034	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
835	chr5	32888817	32888818	rs10472828	19570815	Estrada K	2009-07-01	Hum Mol Genet	A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.	Height	10,074 European ancestry individuals	6,912 European ancestry individuals	5p13.3	C5orf23, NPR3	rs10472828-C	0.56	3E-7		0.22	[0.04-0.40] cm increase	Affymetrix, Illumina, Perlegen [2228850] (imputed)	N
835	chr5	32888817	32888818	rs10472828	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	5p13.3	NPR3	rs10472828-?	0.26	3E-7		0.06	[0.04-0.08] s.d. decrease	Illumina [229216]	N
841	chr5	33636593	33636594	rs6868223	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	5p13.3	ADAMTS12	rs6868223-A	0.338	2E-6	(AA)	1.58	[0.98-2.56]	Affymetrix [up to 2366858] (imputed)	N
843	chr5	33879791	33879792	rs1364044	22990015	Arning A	2012-09-20	Blood	A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.	Stroke (pediatric)	270 European ancestry trios	NA	5p13.2	ADAMTS12	rs1364044-A	.296	3E-6	(All)	1.91	[NR]	Illumina [334581]	N
844	chr5	33951692	33951693	rs16891982	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Black vs. non-black hair color	196 European ancestry black hair individuals, 6,895 European ancestry non-black hair individuals	NA	5p13.2	SLC45A2	rs16891982-?	0.05	1E-6		4.9177	[4.28-5.56]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
844	chr5	33951692	33951693	rs16891982	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin sensitivity to sun	2,668 European ancestry individuals	NA	5p13.2	SLC45A2	rs16891982-C	0.061	7E-6		0.31	[0.17-0.45] unit increase	Illumina [NR] (imputed)	N
844	chr5	33951692	33951693	rs16891982	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	5p13.2	SLC45A2	rs16891982-C	0.03	4E-20	(hair color)	1.1	[NR] unit increase	Illumina [535076]	N
844	chr5	33951692	33951693	rs16891982	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	5p13.2	NR	rs16891982-?	NR	4E-20	(hair color)			Illumina [535076]	N
844	chr5	33951692	33951693	rs16891982	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eye color	9,126 European ancestry individuals	NA	5p13.2	SLC45A2	rs16891982-C	0.03	1E-12	(eye color)	0.84	[NR] unit increase	Illumina [535076]	N
844	chr5	33951692	33951693	rs16891982	17999355	Stokowski RP	2007-10-15	Am J Hum Genet	A genomewide association study of skin pigmentation in a South Asian population.	Skin pigmentation	363 South Asian ancestry low maxL* individuals, 374 South Asian ancestry high maxL* individuals	116 South Asian ancestry low maxL* individuals, 115 South Asian ancestry high maxL* individuals	5p13.2	SLC45A2	rs16891982-C	0.83	3E-11		4.86	[2.88-8.21]	Perlegen [1502205]	N
844	chr5	33955325	33955326	rs35390	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	5p13.2	SLC45A2	rs35390-?	0.98	2E-7		2.78	[1.89-4.35]	Illumina [594997]	N
844	chr5	33955672	33955673	rs35391	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	5p13.2	MATP	rs35391-T	NR	3E-10		0.44	[0.30-0.58] tanning ability score decrease	Illumina [528173]	N
844	chr5	33958958	33958959	rs28777	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. red hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	5p13.2	MATP	rs28777-C	NR	9E-14		0.46	[0.34-0.58] hair color score decrease	Illumina [528173]	N
844	chr5	33958958	33958959	rs28777	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. blond hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	5p13.2	MATP	rs28777-C	NR	1E-17		0.46	[0.36-0.56] hair color score decrease	Illumina [528173]	N
844	chr5	33964209	33964210	rs183671	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	5p13.2	SLC45A2	rs183671-T	0.0214273518866314	1E-9		0.020743314	[NR] unit increase	Illumina [11155022] (imputed)	N
844	chr5	33967144	33967145	rs35412	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Perceived skin darkness	9,316 European ancestry individuals	5,278 European ancestry individuals	5p13.2	SLC45A2	rs35412-C	0.0157930681236128	3E-8		0.19732696	[0.13-0.27] unit increase	Illumina [up to 11155022] (imputed)	N
846	chr5	34266576	34266577	rs11743355	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5p13.2	piR-30261	rs11743355-?	NR	3E-6	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
849	chr5	34628626	34628627	rs409045	19454037	Arnett DK	2009-05-19	BMC Med Genet	Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study.	Left ventricular mass	101 European ancestry cases, 101 European ancestry controls	704 European ancestry individuals, 1,467 African American individuals	5p13.2	RAI14	rs409045-?	0.38	8E-7	(EA)	0.0101	[NR] g/m2 increase	Affymetrix [96258]	N
850	chr5	34859224	34859225	rs163233	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	5p13.2	TTC23L	rs163233-?	NR	8E-6		3.13	[1.89-5.00]	Illumina [4196861] (imputed)	N
851	chr5	34951149	34951150	rs37439	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	5p13.2	DNAJC21	rs37439-A	NR	9E-6	(AA)	1.0	[0.53-1.47] unit decrease	Affymetrix [~ 2300000] (imputed)	N
852	chr5	35000794	35000795	rs7717823	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs7717823-C	0.41	3E-29	(1.2025, Aminoisobutyrate)	0.44	[NR] unit decrease	Illumina [713870] (imputed)	N
852	chr5	35003111	35003112	rs468327	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs468327-G	0.21	4E-15	(3.0275, Aminoisobutyrate)	0.39	[NR] unit increase	Illumina [713870] (imputed)	N
852	chr5	35037114	35037115	rs37369	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs37369-C	0.08	8E-15	(1.1975, Aminoisobutyrate)	0.41	[NR] unit increase	Illumina [713870] (imputed)	N
852	chr5	35037114	35037115	rs37369	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs37369-C	0.08	6E-15	(3.1075, Aminoisobutyrate)	0.43	[NR] unit increase	Illumina [713870] (imputed)	N
852	chr5	35037114	35037115	rs37369	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs37369-C	0.08	3E-26	(2.6075, Aminoisobutyrate)	0.52	[NR] unit increase	Illumina [713870] (imputed)	N
852	chr5	35037114	35037115	rs37369	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs37369-C	0.08	3E-23	(2.6125, Aminoisobutyrate)	0.49	[NR] unit increase	Illumina [713870] (imputed)	N
852	chr5	35037114	35037115	rs37369	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs37369-C	0.08	3E-16	(2.6275, Aminoisobutyrate)	0.42	[NR] unit increase	Illumina [713870] (imputed)	N
852	chr5	35037114	35037115	rs37369	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs37369-C	0.08	2E-31	(3.0975, Aminoisobutyrate)	0.56	[NR] unit increase	Illumina [713870] (imputed)	N
852	chr5	35037114	35037115	rs37369	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs37369-C	0.08	1E-63	(1.2025, Aminoisobutyrate)	0.77	[NR] unit increase	Illumina [713870] (imputed)	N
852	chr5	35037114	35037115	rs37369	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	5p13.2	AGXT2	rs37369-T	0.088	1E-40		0.47	[0.4-0.54] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
852	chr5	35037114	35037115	rs37369	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	5p13.2	AGXT2	rs37369-T	0.088	2E-32		0.41	[0.34-0.48] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
852	chr5	35037114	35037115	rs37369	21931564	Nicholson G	2011-09-08	PLoS Genet	A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.	Metabolite levels	142 European ancestry female twins	202 European ancestry individuals	5p13.2	AGXT2	rs37369-T	NR	1E-6	(BAIBu)	1.25	[0.80-1.70] unit increase	Illumina [2541644] (imputed)	N
852	chr5	35037114	35037115	rs37369	21572414	Suhre K	2011-05-15	Nat Genet	A genome-wide association study of metabolic traits in human urine.	Urinary metabolites	862 European ancestry male individuals	1,862 European ancestry individuals	5p13.2	AGXT2	rs37369-T	0.092	2E-182	(3-Aminoisobutyrate concentration)			Affymetrix [645249]	N
852	chr5	35039485	35039486	rs37370	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	5p13.2	intergenic	rs37370-T	0.906	1E-7		0.184	[0.12-0.25] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
852	chr5	35044297	35044298	rs28305	25245031	Luneburg N	2014-09-21	Circ Cardiovasc Genet	Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.	Symmetrical dimethylarginine levels	3,745 European ancestry individuals, 2,992 individuals	1,152  European ancestry individuals	5p13.2	AGXT2	rs28305-C	0.095 ?	4E-36		0.031	[0.025-0.037] unit increase	Affymetrix, Illumina [up to 2200000] (imputed)	N
852	chr5	35045744	35045745	rs40200	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	5p13.2	AGXT2	rs40200-G	0.09	9E-37	(3.0925, Aminoisobutyrate)	0.67	[NR] unit increase	Illumina [713870] (imputed)	N
855	chr5	35441719	35441720	rs76632111	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5p13.2	NR	rs76632111-?	NR	7E-9	(Latino)	1.2071	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
855	chr5	35461199	35461200	rs284737	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/5-HIAA ratio)	up to 398 European ancestry individuals	NA	5p13.2	intergenic	rs284737-C		8E-6		0.2134	unit decrease	Illumina [5767231] (imputed)	N
858	chr5	35799993	35799994	rs3822735	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	261 Japanese ancestry cases, 262 Japanese ancestry controls	NA	5p13.2	SPEF2	rs3822735-G	0.752	2E-6	(Dominant model)	2.062	[1.500-2.834]	Illumina [733202]	N
858	chr5	35803576	35803577	rs931555	21244703	Wang JH	2011-01-18	Genome Med	Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.	Multiple sclerosis	2,124 cases, 6,720 controls	1,618 cases, 1,988 controls	5p13.2	IL7R	rs931555-?	NR	4E-7		1.25	[1.15-1.36]	Affymetrix, Illumina [~ 2560000] (imputed)	N
858	chr5	35852310	35852311	rs6890853	23000144	Nakamura M	2012-09-18	Am J Hum Genet	Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.	Primary biliary cirrhosis	487 Japanese ancestry cases, 476 Japanese ancestry controls	787 Japanese ancestry cases, 615 Japanese ancestry controls	5p13.2	IL7R	rs6890853-G	NR	4E-8		1.47	[1.28-1.69]	Affymetrix [421245]	N
858	chr5	35874574	35874575	rs6897932	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	5p13.2	IL7R	rs6897932-G	NR	2E-8		1.11	[1.09-1.13]	Illumina [465434]	N
858	chr5	35874574	35874575	rs6897932	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	5p13.2	IL7R	rs6897932-C	0.75	2E-6		1.12	[1.02-1.23]	Affymetrix, Illumina [~ 2560000] (imputed)	N
858	chr5	35874574	35874575	rs6897932	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	5p13.2	IL7RA	rs6897932-C	0.75	3E-7		1.18	[1.11-1.26]	Affymetrix [334923]	N
858	chr5	35874574	35874575	rs6897932	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	5p13.2	IL7R	rs6897932-G	0.71	8E-6		1.12	[1.06-1.19]	Affymetrix [NR]	N
858	chr5	35876273	35876274	rs3194051	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	5p13.2	IL7R	rs3194051-G	0.27	4E-8		1.07	[1.02-1.12]	Affymetrix, Illumina [~ 1100000] (imputed)	N
858	chr5	35910528	35910529	rs1445898	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	5p13.2	CAPSL	rs1445898-G	0.55	8E-6		1.12	[1.06-1.19]	Affymetrix [NR]	N
859	chr5	35943041	35943042	rs860413	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	5p13.2	IL7R	rs860413-A	0.72	1E-11		1.3	[1.21-1.40]	Illumina [507467]	N
859	chr5	35967999	35968000	rs10491431	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5p13.2	UGT3A1	rs10491431-A	0.15	2E-11	(X-11445--5-alpha-pregnan-3beta,20alpha-disulfate)	0.081	[0.057-0.105] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
860	chr5	36137619	36137620	rs267759	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	5p13.2	LMBRD2	rs267759-A	NR	7E-6		3.23	[1.52-6.87]	Affymetrix [476796]	N
862	chr5	36309096	36309097	rs16902947	23151678	Takata R	2012-11-15	J Hum Genet	Impact of four loci on serum tamsulosin hydrochloride concentration.	Serum tamsulosin hydrochloride concentration	182 Japanese ancestry individuals	NA	5p13.2	RANBP3L	rs16902947-A	0.01	1E-7		19.48	[12.54-26.42] unit increase	Illumina [481678]	N
862	chr5	36370295	36370296	rs13176547	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5p13.2	NR	rs13176547-T	NR	1E-6		1.14	[NR]	Illumina [7158791] (imputed)	N
862	chr5	36423930	36423931	rs7735940	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	5p13.2	RANBP3L	rs7735940-?,rs12522034-?	(AC)	5E-13				Affymetrix [405022]	N
862	chr5	36425592	36425593	rs12522034	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	5p13.2	RANBP3L	rs7735940-?,rs12522034-?	(AC)	5E-13				Affymetrix [405022]	N
862	chr5	36436578	36436579	rs114846327	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5p13.2	NR	rs114846327-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
863	chr5	36473236	36473237	rs2937550	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5p13.2	NR	rs2937550-C	0.537253260908281	9E-6	(IGP72)	0.1807	[0.1-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
863	chr5	36473236	36473237	rs2937550	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	5p13.2	intergenic	rs2937550-T	0.20	8E-6		0.045	[0.025-0.065] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
866	chr5	36900842	36900843	rs293748	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p13.2	NIPBL	rs293748-A	0.158	7E-6	(Vigorous activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
867	chr5	37046625	37046626	rs301901	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5p13.2	NIPBL	rs301901-A	0.565	4E-16		0.024	[0.018-0.03] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
868	chr5	37144573	37144574	rs2098713	24795349	Saxena R	2014-05-03	Circ Cardiovasc Genet	Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort.	Telomere length	842 Punjabi Sikh ancestry type 2 diabetes cases, 774 Punjabi Sikh ancestry controls	1,108 Punjabi Sikh ancestry type 2 diabetes cases, 1,289 Punjabi Sikh ancestry controls, 2,952 European ancestry myocardial infarction cases and healthy controls, 10,033 European ancestry individuals	5p13.2	C5orf42	rs2098713-T	0.47	3E-6	(Punjabi Sikhs)	0.25	[0.15-0.35] unit decrease	Illumina [5904251] (imputed)	N
875	chr5	38051592	38051593	rs270545	20125088	Shi J	2010-02-02	Mol Psychiatry	Genome-wide association study of recurrent early-onset major depressive disorder.	Major depressive disorder	1,020 European ancestry cases, 1,636 European ancestry controls	NA	5p13.2	GDNF	rs270545-G	0.69	1E-6		1.37		Affymetrix [671424]	N
878	chr5	38452893	38452894	rs7715172	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	5p13.1	EGFLAM	rs7715172-G	0.071	3E-6	(EA + AA - GSE)			Affymetrix [421789]	N
881	chr5	38867731	38867732	rs395157	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p13.1	OSMR, FYB, LIFR	rs395157-A	0.4842	9E-12	(EA)	1.0890996	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
881	chr5	38867731	38867732	rs395157	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p13.1	OSMR, FYB, LIFR	rs395157-A	0.4842	2E-20	(EA)	1.0956664	[1.08-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
881	chr5	38867731	38867732	rs395157	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p13.1	OSMR, FYB, LIFR	rs395157-A	0.4842	2E-16	(EA)	1.1031193	[1.08-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
881	chr5	38870907	38870908	rs74378198	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	5p13.1	OSMR	rs74378198-?	NR	4E-6	(% Change in score)	0.43	[NR] unit decrease	Illumina [~ 7000000] (imputed)	N
882	chr5	38955795	38955796	rs2043112	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p13.1	RICTOR, OSMR	rs2043112-A	0.389	8E-7	(Urinary free epinephrine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
882	chr5	39058355	39058356	rs13160161	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p13.1	RICTOR	rs13160161-A	0.382	2E-6	(Urinary free epinephrine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
885	chr5	39394988	39394989	rs2255280	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	5p13.1	DAB2	rs2255280-T	NR	4E-10		1.23	[1.15-1.32]	Affymetrix [666141]	N
885	chr5	39397131	39397132	rs11959928	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	5p13.1	DAB2, C9	rs11959928-A	0.44	1E-7	(eGFRcrea)	0.01	[0.007-0.011] ml/min/1.73 m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
889	chr5	39902364	39902365	rs11954519	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	5p13.1	DAB2	rs11954519-A	0.73	4E-6	(women)	0.033	[0.019-0.047] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
890	chr5	39979171	39979172	rs10053502	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		5p13.1	intergenic	rs10053502-?	0.759	1E-16			[NR]	Affymetrix, Illumina [152234]	N
891	chr5	40134776	40134777	rs2548145	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol use disorder factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	5p13.1	intergenic	rs2548145-G	0.47	2E-6		0.081	[NR] unit decrease	Illumina [~ 300000]	N
891	chr5	40237017	40237018	rs1842076	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p13.1	NR	rs1842076-A	0.72	4E-15	(EA)	1.090434		Affymetrix, Illumina [~ 9000000] (imputed)	N
891	chr5	40237017	40237018	rs1842076	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p13.1	NR	rs1842076-G	0.72	2E-16	(EA)	1.1168399		Affymetrix, Illumina [~ 9000000] (imputed)	N
891	chr5	40237373	40237374	rs36019094	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5p13.1	intergenic	rs36019094-A	0.262	1E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
893	chr5	40392727	40392728	rs4613763	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	5p13.1	PTGER4	rs4613763-G	NR	3E-16		1.2	[1.18-1.22]	Illumina [465434]	N
893	chr5	40392727	40392728	rs4613763	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	5p13.1	PTGER4	rs4613763-C	0.13	7E-27		1.32	[NR]	Affymetrix, Illumina [635547] (imputed)	N
893	chr5	40399095	40399096	rs6880778	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p13.1	NR	rs6880778-?	NR	5E-65	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
893	chr5	40401508	40401509	rs17234657	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	5p13.1	intergenic	rs17234657-G	0.13	2E-12		1.54	[1.34-1.76]	Affymetrix [469557]	N
893	chr5	40410583	40410584	rs11742570	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p13.1	NR	rs11742570-G	0.61	6E-11	(EA)	1.0874969		Affymetrix, Illumina [~ 9000000] (imputed)	N
893	chr5	40410583	40410584	rs11742570	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p13.1	NR	rs11742570-A	0.61	4E-87	(EA)	1.2804482		Affymetrix, Illumina [~ 9000000] (imputed)	N
893	chr5	40410583	40410584	rs11742570	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	5p13.1	PTGER4	rs11742570-C	0.605	2E-82		1.198	[1.164-1.234]	Affymetrix, Illumina [1230000] (imputed)	N
893	chr5	40410583	40410584	rs11742570	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	5p13.1	PTGER4	rs11742570-C	NR	1E-6		1.32	[NR]	Illumina [508934]	N
893	chr5	40410583	40410584	rs11742570	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	5p13.1	PTGER4	rs11742570-C	0.606	7E-36		1.33	[1.27-1.39]	Affymetrix, Illumina [953241] (imputed)	N
893	chr5	40410934	40410935	rs6451493	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	5p13.1	PTGER4	rs6451493-T	0.61	3E-9		1.08	[1.04-1.12]	Affymetrix, Illumina [~ 1100000] (imputed)	N
893	chr5	40415066	40415067	rs1992660	17684544	Franke A	2007-08-08	PLoS One	Systematic association mapping identifies NELL1 as a novel IBD disease gene.	Crohn's disease	393 European ancestry cases, 399 European ancestry controls	375 European ancestry trios, 1,395 European ancestry cases, 1,603 European ancestry controls, 454 French Canadian founder trios, 466 French Canadian founder cases, 358 French Canadian founder controls	5p13.1	PTGER4	rs1992660-?	0.39	4E-7		1.42	[1.24-1.67]	Affymetrix [92387]	N
893	chr5	40424425	40424426	rs6896969	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	5p13.1	PTGER4	rs6896969-C	0.62	2E-7		1.1	[1.01-1.20]	Affymetrix, Illumina [~ 2560000] (imputed)	N
893	chr5	40431182	40431183	rs1373692	17447842	Libioulle C	2007-03-05	PLoS Genet	Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.	Crohn's disease	547 European ancestry cases, 928 European ancestry controls	1,266 European ancestry cases, 559 European ancestry controls, Up to 428 European ancestry trios	5p13.1	intergenic	rs1373692-?	0.59	2E-12		1.46	[NR]	Illumina [302451]	N
893	chr5	40437947	40437948	rs9292777	22570697	Matesanz F	2012-05-03	PLoS One	Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.	Multiple sclerosis	2,127 European ancestry cases, 4,558 European ancestry controls	2,785 European ancestry cases, 2,940 European ancestry controls	5p13.1	PTGER4	rs9292777-T	NR	1E-9		1.19	[1.12-1.25]	Affymetrix, Illumina [130903]	N
893	chr5	40437947	40437948	rs9292777	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	5p13.1	PTGER4	rs9292777-T	0.597	2E-11		1.37	[1.28-1.48]	Affymetrix, Illumina [1060934] (imputed)	N
893	chr5	40437947	40437948	rs9292777	17554261	Parkes M	2007-06-06	Nat Genet	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.	Crohn's disease	1,748 cases, 2,938 controls	1,182 European ancestry cases, 2,024 European ancestry controls	5p13.1	intergenic	rs9292777-?	0.40	3E-18		1.34	[1.20-1.50]	Affymetrix [see WTCCC]	N
893	chr5	40486895	40486896	rs7720838	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	5p13.1	DAB2, PTGER4	rs7720838-G	0.4254	8E-11		0.0785	[0.055-0.102] unit decrease	Illumina [2400000] (imputed)	N
893	chr5	40490789	40490790	rs10440635	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	5p13.1	PTGER4	rs10440635-A	0.60	3E-7				Illumina [2223620] (imputed)	N
893	chr5	40498576	40498577	rs1505992	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5p13.1	NR	rs1505992-A	0.68	7E-32	(EA)	1.1339794		Affymetrix, Illumina [~ 9000000] (imputed)	N
894	chr5	40626752	40626753	rs11955175	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5p13.1	NR	rs11955175-?	NR	6E-6		1.467	[NR]	Affymetrix [722112]	N
895	chr5	40685794	40685795	rs10036575	26098866	Helgason H	2015-06-22	Nat Genet	Loss-of-function variants in ATM confer risk of gastric cancer.	Gastric cancer	2,500 European ancestry cases, 205,652 European ancestry controls (includes non-array genotyped, whole genome imputed individuals)	NA	5p13.1	PTGER4, TTC33, PRKAA1	rs10036575-T	0.784	5E-6		1.2345679	[NR]	Illumina [~ 25000000] (imputed)	N
896	chr5	40790550	40790551	rs10074991	26129866	Hu N	2015-06-30	Gut	Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.	Non-cardia gastric cancer	1,027 East Asian ancestry cases, 2,708 East Asian ancestry controls	3,663  East Asian ancestry cases, 7,548  East Asian ancestry controls	5p13.1	PRKAA1	rs10074991-G	0.483	2E-23		1.3	[1.23-1.37]	Illumina [556896]	N
896	chr5	40790550	40790551	rs10074991	26129866	Hu N	2015-06-30	Gut	Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.	Gastric cancer	2,350 East Asian ancestry cases, 2,708 East Asian ancestry controls	7,408  East Asian ancestry cases, 7,548  East Asian ancestry controls	5p13.1	PRKAA1	rs10074991-G	0.483	5E-26		1.25	[1.2-1.3]	Illumina [556896]	N
896	chr5	40790550	40790551	rs10074991	26129866	Hu N	2015-06-30	Gut	Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.	Cardia gastric cancer	1,189 East Asian ancestry cases,  2,708 East Asian ancestry controls	3,738  East Asian ancestry cases,  7,548  East Asian ancestry controls	5p13.1	PRKAA1	rs10074991-G	0.483	7E-12		1.2048193	[1.14-1.27]	Illumina [556896]	N
896	chr5	40791883	40791884	rs13361707	22037551	Shi Y	2011-10-30	Nat Genet	A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1.	Gastric cancer	1,006 Han Chinese ancestry cases, 2,273 Han Chinese ancestry controls	3,288 Han Chinese ancestry cases, 3,609 Han Chinese ancestry controls	5p13.1	PRKAA1, PTGER4	rs13361707-?	NR	8E-29		1.41	[1.32-1.49]	Affymetrix [555896]	N
897	chr5	40983435	40983436	rs7732104	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	5p13.1	C7	rs7732104-?	NR	9E-6	(AUC)			NR [2092490]	N
899	chr5	41234045	41234046	rs7443270	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	5p13.1	C6	rs7443270-?	NR	5E-6	(Response)	0.04	[0.022-0.058] ng/dL increase	Affymetrix [2543887] (imputed)	N
907	chr5	42288592	42288593	rs11748684	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	5p13.1	GHR	rs11748684-?	NR	3E-6				Affymetrix, Illumina [~ 1300000]	N
908	chr5	42375242	42375243	rs979233	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	5p13.1	GHR	rs979233-T	0.46	4E-6				Illumina [502033]	N
909	chr5	42473554	42473555	rs13188386	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	5p13.1	GHR	rs13188386-?	NR	8E-6	(transferrin saturation)			Illumina [315887]	N
910	chr5	42719238	42719239	rs6180	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	5p12	GHR	rs6180-A	0.39	8E-6		0.018	[0.0062-0.0298] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
913	chr5	43116829	43116830	rs1532331	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	5p12	ZNF131, GHR	rs1532331-G	0.32	4E-9		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
914	chr5	43124687	43124688	rs782971	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5p12	ZNF131	rs782971-G	0.259	9E-6	(EA, women)	0.02	[0.011-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
915	chr5	43382857	43382858	rs11951515	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	5p12	CCL28	rs11951515-C		4E-7		0.04	[0.03-0.06] unit increase	Affymetrix [~ 2500000] (imputed)	N
922	chr5	44186667	44186668	rs4296809	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	5p12	intergenic	rs4296809-?	0.15	9E-7				Illumina [448293]	N
923	chr5	44365544	44365545	rs2121875	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	5p12	FGF10	rs2121875-G	0.34	4E-8		1.05	[1.02-1.08]	NR [2600000] (imputed)	N
924	chr5	44515934	44515935	rs13153459	26227905	Hu Y	2015-07-31	Mol Neurobiol	A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.	Parkinson's disease	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	5p12	FGF10, MRPS30	rs13153459-?	NR	1E-6		2.45	[1.79-3.34]	Illumina [862198]	N
925	chr5	44662514	44662515	rs4415084	21263130	Fletcher O	2011-01-24	J Natl Cancer Inst	Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.	Breast cancer	2,839 European ancestry cases, 3,507 European ancestry controls	9,041 European ancestry cases, 8,980 European ancestry controls	5p12	intergenic	rs4415084-T	0.42	8E-11		1.17	[1.11-1.22]	Illumina [~ 296114]	N
926	chr5	44706497	44706498	rs10941679	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	5p12	intergenic	rs10941679-G	0.25	2E-37		1.13	[1.10-1.15]	Affymetrix, Illumina [~ 2600000] (imputed)	N
927	chr5	44857466	44857467	rs4629607	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5p12	NR	rs4629607-G	NR	1E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
927	chr5	44875004	44875005	rs7716600	20872241	Li J	2010-09-26	Breast Cancer Res Treat	A combined analysis of genome-wide association studies in breast cancer.	Breast cancer	2,702 European ancestry female cases, 5,726 European ancestry controls	Up to 7,386 cases, 7,576 controls	5p12	MRPS30	rs7716600-A	0.23	7E-7		1.24	[1.14-1.34]	Illumina [285984]	N
929	chr5	45197778	45197779	rs10941694	20686651	Gudbjartsson DF	2010-07-29	PLoS Genet	Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.	Chronic kidney disease and serum creatinine levels	1,689 European ancestry cases, 37,076 European ancestry controls	1,972 European ancestry cases, 6,125 European ancestry controls	5p12	NR	rs10941694-A	0.06	9E-6	(CKD)	1.35	[1.19-1.56]	Illumina [~ 2500000] (imputed)	N
930	chr5	45265767	45265768	rs13180087	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	5p12	HCN1	rs13180087-?		9E-6	(overall survival)	2.06	[1.50-2.83]	Illumina [729737]	N
930	chr5	45265767	45265768	rs13180087	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	5p12	HCN1	rs13180087-?		3E-6	(overall survival)	2.4	[1.66-3.46]	Illumina [729737]	N
930	chr5	45285717	45285718	rs981782	17529967	Easton DF	2007-05-27	Nature	Genome-wide association study identifies novel breast cancer susceptibility loci.	Breast cancer	390 cases,364 controls	26,646 cases,24,889 controls	5p12	intergenic	rs981782-C	0.53	9E-6		1.04	[1.01-1.08]	Perlegen [205586]	N
931	chr5	45364874	45364875	rs1501357	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5p12	NR	rs1501357-C	NR	1E-8		1.0752687	[NR]	Illumina [7158791] (imputed)	N
931	chr5	45364874	45364875	rs1501357	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	5p12	HCN1	rs1501357-C	0.198	5E-9		1.0799136	[1.05-1.11]	Affymetrix, Illumina [9005918] (imputed)	N
934	chr5	45835258	45835259	rs144223816	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5p12	NR	rs144223816-G	NR	5E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
934	chr5	45849728	45849729	rs10941710	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	5p12	NR	rs10941710-A	NR	8E-6		0.032	[0.018-0.046] unit decrease	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
936	chr5	46117610	46117611	rs77655443	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	5p11	NR	rs77655443-?		1E-7	(PCB74)	1.17	[0.74-1.6] unit decrease	Illumina [8736858] (imputed)	N
938	chr5	46349703	46349704	rs13358908	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5p11	NR	rs13358908-C	NR	5E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
963	chr5	49620549	49620550	rs72749828	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q11.1	NR	rs72749828-?	NR	2E-6	(AA)	0.8801	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
965	chr5	49830285	49830286	rs76329678	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q11.1	NR	rs76329678-A	NR	6E-7		1.05	[NR]	Illumina [7158791] (imputed)	N
966	chr5	50026464	50026465	rs282544	22685421	Fan Q	2012-06-07	PLoS Genet	Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.	Myopia (pathological)	2,789 Chinese ancestry individuals, 2,155 Malay ancestry individuals	NA	5q11.1	PARP8	rs282544-C	0.35	4E-6		0.1	[0.061-0.139] mm decrease	Illumina [456634]	N
968	chr5	50233198	50233199	rs151997	23874384	Viding E	2013-07-09	PLoS One	Genetics of callous-unemotional behavior in children.	Callous-unemotional behaviour	2,930 European ancestry children	NA	5q11.1	PARP8	rs151997-T	0.382	5E-6				Affymetrix [1724317] (imputed)	N
970	chr5	50529174	50529175	rs13360092	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	5q11.1	ISL1, PARP8	rs13360092-A	0.07	3E-8	(CVLT-dr, EA)	0.7655	[0.5-1.04] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
970	chr5	50555168	50555169	rs10058621	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	5q11.1	ISL1, PARP8	rs10058621-C	0.07	1E-6	(CVLT_HVLT-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
971	chr5	50634877	50634878	rs6449586	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Barrett's esophagus	2,416 European ancestry cases, 3,206 European ancestry controls	759 European ancestry cases, 6,911 European ancestry controls	5q11.1	NR	rs6449586-A	0.553	1E-6		1.1628	[1.1-1.25]	Illumina [922031]	N
971	chr5	50717792	50717793	rs9291768	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	5q11.2	ISL1, LOC642366	rs9291768-T	0.377	2E-12		2.18	[1.75-2.71]	Illumina [7261187] (imputed)	N
973	chr5	50928809	50928810	rs4865673	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	5q11.2	ISL1	rs4865673-?	NR	9E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
975	chr5	51164114	51164115	rs12186641	23708191	Cordell HJ	2013-05-26	Nat Genet	Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.	Congenital heart disease	1,479 European ancestry congenital heart disease cases, 340 European ancestry ostium secundum atrial septal defect cases, 5,159 European ancestry controls	417 European ancestry ostium secundum atrial septal defect cases, 209 European ancestry ventricular septal defect cases, 2,520 European ancestry controls	5q11.2	NR	rs12186641-?	0.071	7E-6	(VSD)	1.676	[NR]	Illumina [514952]	N
975	chr5	51173323	51173324	rs17835853	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	NR	rs17835853-G	0.956794057690593	4E-6	(IGP30)	0.4778	[0.27-0.68] unit increase	Illumina [~ 2500000] (imputed)	N
975	chr5	51173323	51173324	rs17835853	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	NR	rs17835853-G	0.956751274008025	6E-6	(IGP34)	0.4694	[0.27-0.67] unit decrease	Illumina [~ 2500000] (imputed)	N
975	chr5	51217850	51217851	rs10042348	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5q11.2	NR	rs10042348-?	NR	5E-6		1.2948	[NR]	Affymetrix [722112]	N
975	chr5	51236325	51236326	rs16879308	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	5q11.2	intergenic	rs16879308-?	0.94	2E-6		1.23	[1.14-1.35]	Affymetrix, Illumina [~ 2300000] (imputed)	N
977	chr5	51491063	51491064	rs4348174	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	5q11.2	ITGA1	rs4348174-C	0.4	4E-6	(EA)	0.05	[0.03-0.07] unit increase	Illumina [up to 905285]	N
979	chr5	51706905	51706906	rs6889746	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	5q11.2	PELO	rs6889746-?	.3534	6E-6	(ACL)	1.776	[NR]	Affymetrix [906600]	N
980	chr5	51805741	51805742	rs7702276	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	5q11.2	ITGA1	rs7702276-T	0.36	1E-6	(Cortical Ab)			Illumina [6108668] (imputed)	N
981	chr5	52020395	52020396	rs830884	22020760	Won HH	2011-10-21	Cancer	Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients.	Response to platinum-based agents	96 colon cancer cases	247 colon cancer cases	5q11.2	ITGA1, PELO	rs830884-?	NR	2E-6		3.13	[1.85-5.26]	Affymetrix [656843]	N
983	chr5	52179789	52179790	rs2456203	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	5q11.2	ITGA1	rs2456203-T	NR	2E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
983	chr5	52193124	52193125	rs4074793	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	5q11.2	ITGA1	rs4074793-G	0.07	3E-10		5.5	[3.30-7.70] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
983	chr5	52195032	52195033	rs1551943	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	5q11.2	ITGA1	rs1551943-G	NR	2E-6	(FEV1/FVC)	0.026	[0.014-0.038] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
984	chr5	52420937	52420938	rs27419	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q11.2	NR	rs27419-C	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
985	chr5	52552238	52552239	rs27323	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	NR	rs27323-G	0.421661209612817	9E-6	(IGP64)	0.1399	[0.078-0.202] unit decrease	Illumina [~ 2500000] (imputed)	N
986	chr5	52560643	52560644	rs38055	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	5q11.2	AK097288, FST, ITGA1, ITGA2, LOC257396, PELO, MOCS2, NDUFS4	rs38055-A	0.3197	5E-9		1.18	[1.09-1.27]	Illumina [7300000] (imputed)	N
991	chr5	53271419	53271420	rs702634	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	5q11.2	ARL15	rs702634-A		7E-9		1.06	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
991	chr5	53298024	53298025	rs6450176	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	5q11.2	ARL15	rs6450176-A	0.26	7E-10		0.025	[NR] unit decrease	NR [NR] (imputed)	N
991	chr5	53298024	53298025	rs6450176	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	5q11.2	ARL15	rs6450176-G	NR	6E-8		0.026	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
991	chr5	53298024	53298025	rs6450176	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	5q11.2	ARL15	rs6450176-A	0.26	5E-8		0.49	[0.31-0.67] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
991	chr5	53300661	53300662	rs4311394	20011104	Richards JB	2009-12-05	PLoS Genet	A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.	Adiponectin levels	8,531 European ancestry individuals	6,202 European ancestry individuals	5q11.2	ARL15	rs4311394-G	0.41	3E-8		0.96	[NR] ug/ml increase	Affymetrix, Illumina [~ 2200000] (imputed)	N
991	chr5	53311501	53311502	rs255758	23918589	Negi S	2013-12-01	Arthritis Rheum	A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians.	Rheumatoid arthritis	706 North Indian ancestry cases, 761 North Indian ancestry controls	927 North Indian ancestry cases, 1,148 North Indian ancestry controls	5q11.2	ARL15	rs255758-C	0.18	7E-6		1.42	[1.22-1.66]	Illumina [559348]	N
992	chr5	53380554	53380555	rs273218	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	5q11.2	intergenic	rs273218-?	0.8	2E-6		1.06	[1.04-1.1]	Affymetrix, Illumina [~ 2300000] (imputed)	N
993	chr5	53556081	53556082	rs13184316	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	5q11.2	ARL15	rs13184316-A	NR	8E-7	(%LAA-950, Cases)	0.07	[-0.12600-0.26600] unit increase	Illumina [7600000] (imputed)	N
993	chr5	53592360	53592361	rs35951	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	5q11.2	ARL15	rs35951-G	0.14	1E-8		1.43	[1.31-1.55]	Illumina [4058415] (imputed)	N
996	chr5	53875981	53875982	rs1122401	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	5q11.2	NR	rs1122401-?		4E-6	(males)			Illumina [1211988] (imputed)	N
996	chr5	53902338	53902339	rs2548621	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	5q11.2	SNX18	rs2548621-?		9E-7	(Hispanic)			Illumina [NR]	N
1004	chr5	54944261	54944262	rs7704138	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	5q11.2	SLC38A9	rs7704138-T	0.47	3E-11		0.028	[0.016-0.04] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1004	chr5	54955070	54955071	rs7716219	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q11.2	SLC38A9	rs7716219-T	0.307	7E-22		0.03	[0.024-0.036] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1004	chr5	55001898	55001899	rs11958779	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q11.2	SLC38A9	rs11958779-A	0.7	2E-12		0.027	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836804684351315	2E-6	(IGP69)	0.2129	[0.12-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836731980863373	7E-11	(IGP53)	0.2916	[0.2-0.38] unit increase	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836731980863373	3E-10	(IGP43)	0.2804	[0.19-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836731980863373	2E-7	(IGP17)	0.2309	[0.14-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836731980863373	1E-10	(IGP57)	0.2872	[0.2-0.37] unit increase	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836731980863373	1E-10	(IGP55)	0.2864	[0.2-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836731980863373	1E-10	(IGP13)	0.2875	[0.2-0.38] unit increase	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836669484361037	2E-6	(IGP74)	0.2132	[0.13-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836660240071397	8E-6	(IGP56)	0.2001	[0.11-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836659126892253	2E-9	(IGP3)	0.2658	[0.18-0.35] unit decrease	Illumina [~ 2500000] (imputed)	N
1007	chr5	55322894	55322895	rs17348299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	IL6ST, ANKRD55	rs17348299-C	0.836657880517164	4E-6	(IGP75)	0.2064	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
1007	chr5	55324801	55324802	rs16884711	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	NR	rs16884711-C	0.189044272039181	2E-6	(IGP5)	0.1931	[0.11-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
1007	chr5	55324801	55324802	rs16884711	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	NR	rs16884711-C	0.188959846461949	3E-6	(IGP45)	0.1908	[0.11-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
1007	chr5	55438579	55438580	rs6859219	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	5q11.2	IL6ST, ANKRD55	rs6859219-C	0.79	1E-11		1.28	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1007	chr5	55438850	55438851	rs10065637	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q11.2	NR	rs10065637-G	0.79	1E-7	(EA)	1.0710944		Affymetrix, Illumina [~ 9000000] (imputed)	N
1007	chr5	55438850	55438851	rs10065637	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	5q11.2	IL6ST, IL31RA	rs10065637-C	0.773	4E-12		1.123	[1.079-1.17]	Affymetrix, Illumina [1230000] (imputed)	N
1007	chr5	55440729	55440730	rs71624119	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q11.2	NR	rs71624119-?	NR	7E-10	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1008	chr5	55444682	55444683	rs7731626	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	5q11.2	ANKRD55	rs7731626-G	0.63	8E-23	(EA)	1.21	[1.17-1.26]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1008	chr5	55510655	55510656	rs4700060	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		5q11.2	ANKRD55	rs4700060-?	0.1	1E-8		0.21	unit decrease	Illumina [NR] (imputed)	N
1008	chr5	55560026	55560027	rs1020388	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	5q11.2	ANKRD55	rs1020388-?	NR	3E-7				Illumina [472854]	N
1010	chr5	55806750	55806751	rs459193	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	ANKRD55	rs459193-A	0.2779	5E-12		0.0255	[0.018-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1010	chr5	55806750	55806751	rs459193	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	ANKRD55	rs459193-A	0.2769	5E-9	(men)	0.0315	[0.021-0.042] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1010	chr5	55806750	55806751	rs459193	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	ANKRD55	rs459193-A	0.2663	7E-9	(EA, men)	0.0325	[0.022-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1010	chr5	55806750	55806751	rs459193	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	ANKRD55	rs459193-A	0.2645	2E-11	(EA)	0.0259	[0.018-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1010	chr5	55811091	55811092	rs456867	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	5q11.2	ANKRD55	rs456867-T	0.17	3E-6	(women)	0.038	[0.022-0.054] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1010	chr5	55833518	55833519	rs30360	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	5q11.2	LOC441073, MAP3K1	rs30360-G	0.293	1E-6	(Carbohydrate)			Affymetrix [590000]	N
1010	chr5	55833518	55833519	rs30360	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	5q11.2	LOC441073, MAP3K1	rs30360-G	0.293	9E-7	(Carbohydrate)			Affymetrix [590000]	N
1011	chr5	55854152	55854153	rs6867983	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist circumference	Up to 23,564 African American individuals	Up to 10,027 African American individuals	5q11.2	MAP3K1	rs6867983-T	0.24	1E-7	(men)	0.09	[0.051-0.129] unit decrease	Affymetrix, Illumina [3200000] (imputed)	N
1011	chr5	55854152	55854153	rs6867983	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	5q11.2	C5orf35	rs6867983-T	0.12	3E-6		0.02	[0.01-0.03] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1011	chr5	55859951	55859952	rs11743303	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	5q11.2	MAP3K1	rs11743303-G		8E-7	(WCadjBMI, women)			Affymetrix, Illumina [2846694] (imputed)	N
1011	chr5	55860865	55860866	rs3936510	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	MAP3K1	rs3936510-T	0.1884	8E-12	(women)	0.0401	[0.029-0.052] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1011	chr5	55860865	55860866	rs3936510	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	MAP3K1	rs3936510-T	0.1865	6E-12	(EA, women)	0.0416	[0.03-0.053] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1011	chr5	55860865	55860866	rs3936510	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	MAP3K1	rs3936510-T	0.1862	2E-8		0.0246	[0.016-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1011	chr5	55860865	55860866	rs3936510	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	MAP3K1	rs3936510-T	0.1845	9E-9	(EA)	0.0262	[0.017-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1011	chr5	55861785	55861786	rs9686661	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	5q11.2	MAP3K1	rs9686661-T	0.2	3E-16		0.038	[NR] mg/dL increase	NR [NR] (imputed)	N
1011	chr5	55861785	55861786	rs9686661	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	5q11.2	MAP3K1, ANKRD55	rs9686661-T	0.2	1E-10		2.57	[1.61-3.53] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1011	chr5	55861893	55861894	rs9687846	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	MAP3K1	rs9687846-A	0.1923	5E-12	(women)	0.0396	[0.028-0.051] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1011	chr5	55861893	55861894	rs9687846	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	MAP3K1	rs9687846-A	0.1905	4E-12	(EA, women)	0.0409	[0.029-0.052] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1011	chr5	55861893	55861894	rs9687846	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	MAP3K1	rs9687846-A	0.1897	1E-7		0.0229	[0.014-0.031] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1011	chr5	55861893	55861894	rs9687846	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q11.2	MAP3K1	rs9687846-A	0.188	7E-8	(EA)	0.0242	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1011	chr5	55904897	55904898	rs17716202	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis in Alzheimer's disease	1,039 European ancestry cases with psychosis, 610 European ancestry cases without psychosis, 260 European, African American and Native American ancestry cases with psychosis and 125 European, African American and Native American ancestry cases without psychosis from 264 families	NA	5q11.2	NR	rs17716202-?	0.94	8E-6		2.2222223	[NR]	Illumina [1882172] (imputed)	N
1012	chr5	55983855	55983856	rs16886034	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs16886034-?	0.08	2E-9		1.36	[1.23-1.51]	Illumina [1265548] (imputed)	N
1012	chr5	55995034	55995035	rs16886113	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs16886113-?	0.08	4E-11		1.35	[1.23-1.47]	Illumina [1265548] (imputed)	N
1012	chr5	56023082	56023083	rs16886165	19330030	Thomas G	2009-03-29	Nat Genet	A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).	Breast cancer	1,145 European ancestry cases, 1,142 European ancestry controls	8,625 European ancestry cases, 9,657 European ancestry controls	5q11.2	MAP3K1	rs16886165-G	0.15	5E-7		1.23	[1.12-1.35] (Het)	Illumina [528173]	N
1012	chr5	56029242	56029243	rs16886181	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs16886181-?	0.18	9E-14		1.26	[1.18-1.34]	Illumina [1265548] (imputed)	N
1012	chr5	56031883	56031884	rs889312	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs889312-?	0.29	1E-8		1.29	[NR]	Illumina [1265548] (imputed)	N
1012	chr5	56031883	56031884	rs889312	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	5q11.2	MAP3K1	rs889312-C	0.28	3E-36		1.12	[1.10-1.15]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1012	chr5	56031883	56031884	rs889312	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	5q11.2	MAP3K1	rs889312-C	0.28	5E-9		1.22	[1.14-1.30]	Illumina [582886]	N
1012	chr5	56031883	56031884	rs889312	17529967	Easton DF	2007-05-27	Nature	Genome-wide association study identifies novel breast cancer susceptibility loci.	Breast cancer	390 cases,364 controls	26,646 cases,24,889 controls	5q11.2	MAP3K1	rs889312-C	0.28	7E-20		1.13	[1.10-1.16]	Perlegen [205586]	N
1013	chr5	56104307	56104308	rs10461617	23209189	Tabassum R	2012-12-03	Diabetes	Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.	Type 2 diabetes	1,101 Indo-European ancestry cases, 1,027 Indo-European ancestry controls	3,607 Indo-European ancestry cases, 2,924 Indo-European ancestry controls, 1,184 Dravidian ancestry cases, 1,061 Dravidian ancestry controls, 11,285 European ancestry cases, 11,285 European ancestry controls	5q11.2	MAP3K1	rs10461617-A	0.21	4E-6	(All South Asians)	1.17	[1.09-1.25]	Illumina [536420]	N
1013	chr5	56122343	56122344	rs16886364	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs16886364-?	0.07	5E-12		1.36	[1.25-1.48]	Illumina [1265548] (imputed)	N
1013	chr5	56134275	56134276	rs16886397	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs16886397-?	0.07	4E-12		1.36	[1.25-1.49]	Illumina [1265548] (imputed)	N
1013	chr5	56153391	56153392	rs1017226	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	5q11.2	MAP3K1	rs1017226-C	0.07	5E-6	(Men)	0.030341806	[0.017-0.043] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1013	chr5	56153391	56153392	rs1017226	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs1017226-?	0.08	6E-11		1.33	[1.22-1.45]	Illumina [1265548] (imputed)	N
1013	chr5	56168711	56168712	rs2229882	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs2229882-?	0.06	1E-14		1.45	[1.32-1.60]	Illumina [1265548] (imputed)	N
1013	chr5	56170812	56170813	rs16886448	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs16886448-?	0.07	2E-12		1.37	[1.25-1.49]	Illumina [1265548] (imputed)	N
1013	chr5	56178110	56178111	rs3822625	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs3822625-?	0.07	5E-12		1.36	[1.24-1.48]	Illumina [1265548] (imputed)	N
1013	chr5	56195789	56195790	rs12655019	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs12655019-?	0.1	3E-10		1.27	[1.18-1.37]	Illumina [1265548] (imputed)	N
1014	chr5	56256482	56256483	rs7726354	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	5q11.2	MAP3K1	rs7726354-?	0.06	7E-11		1.37	[1.24-1.50]	Illumina [1265548] (imputed)	N
1017	chr5	56666499	56666500	rs10052004	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	5q11.2	intergenic	rs10052004-?	NR	4E-6	(Positive symptoms)	0.0921	[NR] unit decrease	Affymetrix [696491]	N
1018	chr5	56810137	56810138	rs6892553	24124408	Hong KW	2013-09-30	Genomics Inform	Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.	Orthostatic hypotension	667 Korean ancestry cases,  5,761 Korean ancestry controls	NA	5q11.2	ACTBL2	rs6892553-G	0.137	2E-6	(Delta DBP)	1.08	[NR] mmHg increase	Affymetrix [333651]	N
1018	chr5	56843184	56843185	rs6895539	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q11.2	NR	rs6895539-?	NR	5E-6	(Native Hawaiian)	0.805	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1019	chr5	56922084	56922085	rs2910490	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	5q11.2	NR	rs2910490-C	NR	9E-6	(phenotype 3)	1.49	[NR]	Illumina [> 8000000] (imputed)	N
1020	chr5	57130817	57130818	rs10940579	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	5q11.2	ACTBL2	rs10940579-?	NR	4E-6	(rs4962416)	1.32	[1.18-1.49]	Affymetrix, Illumina [1117531] (imputed)	N
1020	chr5	57137498	57137499	rs11744848	26268530	Ramanan VK	2015-08-11	Brain	GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.	Longitudinal change in brain amyloid plaque burden	41 European ancestry Alzheimer's disease cases, 294 European ancestry Mild Cognitive Impairment cases, 160 European ancestry cognitively normal individuals	NA	5q11.2	intergenic	rs11744848-?	0.13	3E-6		0.63	[0.38-0.88] unit decrease	Illumina [6112217] (imputed)	N
1021	chr5	57172077	57172078	rs4432842	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	5q11.2	intergenic	rs4432842-C	0.30	5E-8		0.034	[0.022-0.046] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
1021	chr5	57214816	57214817	rs10041935	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	5q11.2	intergenic	rs10041935-C	NR	3E-6	(Recessive)	2.5	[1.71-3.66]	Affymetrix, Illumina [1621689] (imputed)	N
1022	chr5	57320953	57320954	rs1844437	21302353	Perroud N	2010-12-28	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of hoarding traits.	Hoarding	3,304 European ancestry individuals	NA	5q11.2	intergenic	rs1844437-C	0.22	2E-6		0.62	[NR] unit decrease	Illumina [1517033] (imputed)	N
1023	chr5	57480692	57480693	rs2964186	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q11.2	NR	rs2964186-?	NR	8E-7				Affymetrix [5486770] (imputed)	N
1023	chr5	57523477	57523478	rs55966191	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q11.2	NR	rs55966191-?	NR	5E-7	(AA)	1.042	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1023	chr5	57523477	57523478	rs55966191	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5q11.2	NR	rs55966191-?	NR	9E-8	(AA)	0.9971	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1028	chr5	58082722	58082723	rs10065350	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q11.2	NR	rs10065350-C	0.841900657231865	9E-6	(IGP67)	0.2004	[0.11-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
1028	chr5	58083194	58083195	rs139293074	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	5q11.2	RAB3C	rs139293074-A		5E-6		1064.6	[607.92-1521.28] unit increase	Affymetrix, Illumina [at least 646791] (imputed)	N
1028	chr5	58184060	58184061	rs10472076	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	5q11.2	RAB3C	rs10472076-C	0.38	3E-8		1.05	[1.03-1.07]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1029	chr5	58208217	58208218	rs159497	25979521	de Jong K	2015-06-05	J Allergy Clin Immunol	Genome-wide interaction study of gene-by-occupational exposure and effects on FEV<sub>1</sub> levels.	Forced expiratory volume in 1 second (environmental interaction)	12,400 individuals	1,436 individuals	5q11.2	PDE4D	rs159497-C	0.46	5E-8	Gases and fumes	131.9	[NR] unit increase	Illumina [up to 221663]	N
1030	chr5	58337480	58337481	rs1353747	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	5q11.2	PDE4D	rs1353747-T	0.905	3E-8		1.09	[1.05-1.12]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1030	chr5	58407770	58407771	rs10052657	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	5q11.2	PDE4D, PDE4DN2	rs10052657-C	0.88	1E-6		1.25	[1.15-1.37]	Affymetrix, Illumina [7556215] (imputed)	N
1030	chr5	58407770	58407771	rs10052657	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	5q11.2	PDE4D	rs10052657-C	0.78	2E-19		1.49	[1.37-1.61]	Affymetrix [666141]	N
1031	chr5	58560716	58560717	rs17444059	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune response to smallpox vaccine (IL-6)	Up to 512 European ancestry individuals, 199 African American individuals	NA	5q11.2	PDE4D	rs17444059-G		2E-8	(AA)			Illumina [NR]	N
1032	chr5	58676048	58676049	rs1823068	17903308	Gottlieb DJ	2007-09-19	BMC Med Genet	Genome-wide association of sleep and circadian phenotypes.	Sleep-related phenotypes	up to 738 individuals from 203 families	NA	5q11.2	PDE4D	rs1823068-?	NR	3E-8	(Sleepiness)			Affymetrix [70897]	N
1032	chr5	58713679	58713680	rs2547917	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)	80 Japanese ancestry cases, 226 Japanese ancestry controls	NA	5q11.2	PDE4D	rs2547917-A	0.212	3E-6	(Recessive model)	1.997	[1.345-2.965]	Illumina [733202]	N
1033	chr5	58842773	58842774	rs702543	17667963	Shifman S	2007-07-31	Mol Psychiatry	A whole genome association study of neuroticism using DNA pooling.	Neuroticism	1,038 European ancestry cases, 1,016 European ancestry controls	831 European ancestry cases, 702 European ancestry controls	5q11.2	PDE4D	rs702543-A	0.55	2E-6		1.27	[1.15-1.40]	Affymetrix [452574]	N
1034	chr5	58979945	58979946	rs17382202	23241943	Clark SL	2012-12-12	Pharmacogenet Genomics	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	Response to antipsychotic treatment	Up to 421 European ancestry Schizophrenia cases, up to 214 African American individuals, up to 103 individuals	NA	5q12.1	PDE4D	rs17382202-T	0.153	4E-8	(Effect of Quetiapine on PGI)			Affymetrix [492900]	N
1035	chr5	59096922	59096923	rs2963826	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q12.1	PDE4D	rs2963826-A	0.325	2E-6	(IGF1 bound )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1037	chr5	59369793	59369794	rs1588265	19426955	Himes BE	2009-05-07	Am J Hum Genet	Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.	Asthma	359 European ancestry cases, 846 European ancestry controls	2,981 European ancestry cases, 12,358 European ancestry controls, 769 European ancestry and hispanic cases, 1,007 European ancestry and hispanic controls, 592 Hispanic cases with their 1,184 Hispanic parental controls, 2,258 African American cases, 3,006 African American controls	5q12.1	PDE4D	rs1588265-C	0.29	3E-8		1.18	[1.08-1.30]	Illumina [518230]	N
1044	chr5	60173514	60173515	rs185572712	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q12.1	NR	rs185572712-G	NR	1E-6		1.1764705	[NR]	Illumina [7158791] (imputed)	N
1046	chr5	60499130	60499131	rs171748	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	5q12.1	ZSWIM6, C5orf43	rs171748-A	0.471	4E-8		1.078	[1.05-1.11]	Affymetrix, Illumina [9871789]	N
1047	chr5	60598542	60598543	rs4391122	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q12.1	NR	rs4391122-G	NR	2E-13		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1047	chr5	60598542	60598543	rs4391122	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	5q12.1	ZSWIM6	rs4391122-G	0.468	1E-14		1.0845987	[1.06-1.11]	Affymetrix, Illumina [9005918] (imputed)	N
1048	chr5	60731457	60731458	rs7709645	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	5q12.1	intergenic	rs7709645-?	NR	4E-8		1.11	[NR]	Affymetrix [745006]	N
1048	chr5	60791592	60791593	rs142089946	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q12.1	NR	rs142089946-G	NR	5E-7		1.1363636	[NR]	Illumina [7158791] (imputed)	N
1049	chr5	60898156	60898157	rs696888	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	5q12.1	C5orf64, ZSWIM6	rs696888-?		4E-6		0.32	unit decrease	Illumina [1211988] (imputed)	N
1049	chr5	60898156	60898157	rs696888	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children	1,686 Bangladeshi women	NA	5q12.1	C5orf64, ZSWIM6	rs696888-?		4E-6		0.34	unit decrease	Illumina [1211988] (imputed)	N
1050	chr5	60950210	60950211	rs11738335	22832961	Kamboh MI	2012-05-15	Transl Psychiatry	Genome-wide association study of Alzheimer's disease.	Alzheimer's disease	1,291 European ancestry cases, 938 European ancestry controls	509 European ancestry cases, 753 European ancestry controls, 2,218 cases, 2,583 controls	5q12.1	FLJ37543	rs11738335-?	NR	5E-6		1.2	[NR]	Illumina [2543888] (imputed)	N
1050	chr5	61025081	61025082	rs4699982	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q12.1	NR	rs4699982-T	0.158658866845398	9E-6	(IGP74)	0.1943	[0.11-0.28] unit decrease	Illumina [~ 2500000] (imputed)	N
1058	chr5	62011982	62011983	rs6871803	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	5q12.1	ISCA1P1	rs6871803-T	0.24	8E-6		0.176	[0.1-0.252] unit increase	Affymetrix [2366856] (imputed)	N
1058	chr5	62074717	62074718	rs16891077	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	5q12.1	HTR1A, ISCA1L	rs16891077-A	0.209	1E-9	(Carbohydrate)			Affymetrix [590000]	N
1058	chr5	62074717	62074718	rs16891077	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	5q12.1	HTR1A, ISCA1L	rs16891077-A	0.209	9E-10	(Carbohydrate)			Affymetrix [590000]	N
1059	chr5	62240925	62240926	rs112730887	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q12.1	NR	rs112730887-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1060	chr5	62384698	62384699	rs71627250	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	5q12.1	HTR1A, ISCA1L	rs71627250-A	0.1	6E-6		1.65	[1.33-2.04]	Illumina [1795103]	N
1062	chr5	62586300	62586301	rs7445832	23216389	Zuo L	2012-12-06	Alcohol Clin Exp Res	Genome-wide significant association signals in IPO11-HTR1A region specific for alcohol and nicotine codependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls	Up to 907 European ancestry cases, up to 2,830 European ancestry controls, up to 449 African American cases, up to 480 African American controls	5q12.1	HTR1A, IPO11	rs7445832-A	NR	1E-9	(Combined, Australian replication)	1.15	[NR]	Illumina [805814]	N
1064	chr5	62817899	62817900	rs255414	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	5q12.1	HTR1A	rs255414-A	0.81	1E-6				Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1065	chr5	63033717	63033718	rs10042968	23216389	Zuo L	2012-12-06	Alcohol Clin Exp Res	Genome-wide significant association signals in IPO11-HTR1A region specific for alcohol and nicotine codependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls	Up to 907 European ancestry cases, up to 2,830 European ancestry controls, up to 449 African American cases, up to 480 African American controls	5q12.2	NA	rs10042968-G	NR	8E-7	(Combined, AA replication)	1.42	[NR]	Illumina [805814]	N
1068	chr5	63394169	63394170	rs1494630	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	5q12.3	intergenic	rs1494630-?		1E-6	(PC2)	0.1452	[NR] unit decrease	Illumina [4167292] (imputed)	N
1071	chr5	63714444	63714445	rs4084594	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q12.3	NR	rs4084594-T	NR	4E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1075	chr5	64347620	64347621	rs266590	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q12.3	SDCCAG10, CWC27	rs266590-G	0.485	9E-6	(Gestational age )	0.05	[NR] wk increase	Illumina [899892]	N
1076	chr5	64417677	64417678	rs7729539	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	5q12.3	NR	rs7729539-C	0.20	1E-6		2.59	[1.55-3.63] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1076	chr5	64433399	64433400	rs17206232	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	5q12.3	ADAMTS6, ADAM	rs17206232-?	NR	1E-6	(Positive symptoms)	0.135	[NR] unit increase	Affymetrix [696491]	N
1076	chr5	64447776	64447777	rs17206779	23727862	Savage SA	2013-06-02	Nat Genet	Genome-wide association study identifies two susceptibility loci for osteosarcoma.	Osteosarcoma	694 European ancestry cases, 2,703 European ancestry controls	247 European ancestry cases, 550 European ancestry controls	5q12.3	ADAMTS6	rs17206779-G	NR	5E-7		1.33	[1.19-1.47]	Illumina [698968]	N
1077	chr5	64534640	64534641	rs13183791	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5q12.3	NR	rs13183791-?	NR	6E-6		1.5749	[NR]	Affymetrix [722112]	N
1078	chr5	64625511	64625512	rs2307121	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	5q12.3	ADAMTS6	rs2307121-T	0.34	6E-11		0.09	[0.07-0.11] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
1081	chr5	65137460	65137461	rs16894446	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	5q12.3	NR	rs16894446-T	0.026	3E-7	(Trans/cis-18:2, EA)	0.0167	[0.01-0.023] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1081	chr5	65139763	65139764	rs6892230	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	5q12.3	NLN	rs6892230-A	0.016	2E-6		1.236	[1.133-1.349]	Affymetrix, Illumina [NR] (imputed)	N
1086	chr5	65739438	65739439	rs10514995	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	5q12.3	intergenic	rs10514995-G	0.36	1E-6		0.15	[0.09-0.21] unit increase	Illumina [~ 318327]	N
1089	chr5	66152257	66152258	rs39861	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	5q12.3	MAST4	rs39861-C	.235	3E-7	(JME)	1.26	[1.13-1.41]	Affymetrix [4560000] (imputed)	N
1091	chr5	66452174	66452175	rs1697137	20009918	Shrestha S	2010-01-01	AIDS	A genome-wide association study of carotid atherosclerosis in HIV-infected men.	Carotid atherosclerosis in HIV infection	177 European ancestry individuals	NA	5q12.3	MAST4	rs1697137-C	0.36	2E-6	(internal cIMT)			Illumina [311194]	N
1094	chr5	66833256	66833257	rs7717572	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	5q13.1	CD180	rs7717572-?	NR	3E-6	(rs2660753)	1.94	[1.47-2.56]	Affymetrix, Illumina [1117531] (imputed)	N
1097	chr5	67194468	67194469	rs10940138	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	5q13.1	PIK3R1	rs10940138-T	0.19	4E-7	(AA)	5.64	[3.46-7.82] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1098	chr5	67294906	67294907	rs157411	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	5q13.1	intergenic	rs157411-?		2E-6	(overall survival)	2.89	[1.86-4.47]	Illumina [729737]	N
1098	chr5	67307461	67307462	rs10067755	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	5q13.1	LOC359819, EE F1B3	rs10067755-C	NR	2E-6	(Smoking, Years)	0.12	[NR] unit decrease	Affymetrix [706791]	N
1099	chr5	67492111	67492112	rs4246774	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q13.1	NR	rs4246774-C	NR	9E-6		1.2345679	[NR]	Illumina [7158791] (imputed)	N
1101	chr5	67656620	67656621	rs62355986	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q13.1	NR	rs62355986-C	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1125	chr5	70834891	70834892	rs35131626	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q13.2	BDP1	rs35131626-A	0.029	9E-6	(Dinner intake, adj EER )	0.04	[NR] kcal increase	Illumina [899892]	N
1129	chr5	71410355	71410356	rs2199161	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	5q13.2	MAP1B	rs2199161-?	NR	2E-6				Affymetrix [504219]	N
1131	chr5	71693898	71693899	rs4703855	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q13.2	NR	rs4703855-G	0.7	2E-6	(EA)	1.0675422		Affymetrix, Illumina [~ 9000000] (imputed)	N
1131	chr5	71693898	71693899	rs4703855	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q13.2	NR	rs4703855-G	0.7	7E-11	(EA)	1.0736468		Affymetrix, Illumina [~ 9000000] (imputed)	N
1131	chr5	71693898	71693899	rs4703855	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q13.2	intergenic	rs4703855-A	0.7	3E-8	(EA)	1.0760114		Affymetrix, Illumina [~ 9000000] (imputed)	N
1132	chr5	71716927	71716928	rs10515148	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	5q13.2	ZNF366	rs10515148-?	NR	6E-7	(NeckZ1rf)			Affymetrix [70897]	N
1137	chr5	72431481	72431482	rs17632159	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	5q13.2	TMEM171	rs17632159-C	0.31	4E-11		0.039	[0.027-0.051] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1137	chr5	72432035	72432036	rs17663555	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	5q13.2	TMEM171, TMEM174	rs17663555-G	0.34	2E-6		0.004	[0.0024-0.0056] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
1138	chr5	72518147	72518148	rs10061469	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q13.2	NR	rs10061469-A	0.67	1E-6	(EA)	1.0531912		Affymetrix, Illumina [~ 9000000] (imputed)	N
1138	chr5	72539849	72539850	rs34804116	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q13.2	NR	rs34804116-?	NR	1E-13	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1138	chr5	72551133	72551134	rs7702331	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	5q13.2	intergenic	rs7702331-A	0.621	6E-10		1.088	[1.05-1.126]	Affymetrix, Illumina [1230000] (imputed)	N
1138	chr5	72551133	72551134	rs7702331	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	5q13.2	intergenic	rs7702331-A	0.6	6E-12		1.12	[1.07-1.17]	Affymetrix, Illumina [953241] (imputed)	N
1143	chr5	73215236	73215237	rs16871023	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	5q13.2	RGNEF	rs16871023-G	0.046	1E-6		0.0761	[NR] % decrease	Affymetrix, Illumina [2522393] (imputed)	N
1143	chr5	73248511	73248512	rs283610	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q13.2	RGNEF	rs283610-G	0.456	7E-6	(CRP )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1144	chr5	73276902	73276903	rs6894385	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QT interval	455 African American individuals	NA	5q13.2	intergenic	rs6894385-C		1E-6		9.92	[NR] ms decrease	Illumina [> 930000]	N
1144	chr5	73309104	73309105	rs11952583	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	5q13.3	NR	rs11952583-?		5E-6	(females)			Illumina [1211988] (imputed)	N
1146	chr5	73654997	73654998	rs80337801	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5q13.3	NR	rs80337801-?	NR	3E-7	(Native Hawaiian)	0.9711	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1147	chr5	73716117	73716118	rs295688	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	5q13.3	NR	rs295688-?	NR	6E-6		2.523	[NR]	Illumina [4196861] (imputed)	N
1151	chr5	74302657	74302658	rs4555772	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		5q13.3	GCNT4	rs4555772-A	NR	4E-6		0.0888	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1153	chr5	74480287	74480288	rs4704187	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	5q13.3	ANKRD31	rs4704187-?	NR	6E-6	(SF6)			Affymetrix [5476100] (imputed)	N
1154	chr5	74625486	74625487	rs7703051	18802019	Burkhardt R	2008-09-18	Arterioscler Thromb Vasc Biol	Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.	LDL cholesterol	2,346 Micronesian ancestry individuals	NA	5q13.3	HMGCR	rs7703051-A	0.41	1E-8		18.0	[NR] % s.d. increase	Affymetrix [~ 500000]	N
1154	chr5	74636483	74636484	rs10045497	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	5q13.3	HMGCR	rs10045497-C	0.49	2E-8	(TC)	0.022	[0.012-0.032] mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
1154	chr5	74636483	74636484	rs10045497	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	5q13.3	HMGCR	rs10045497-C	0.49	1E-12	(LDL)	0.1	[0.061-0.139] mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
1154	chr5	74637710	74637711	rs10038095	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	5q13.3	HMGCR	rs10038095-T	0.38	3E-43		0.083	[0.071-0.095] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1154	chr5	74639258	74639259	rs3843482	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	5q13.3	HMGCR	rs3843482-G	0.38	2E-45		0.087	[0.075-0.099] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1154	chr5	74648602	74648603	rs12654264	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	5q13.3	HMGCR	rs12654264-T	0.48	1E-20	(LDL)	2.7106	[2.14-3.28] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1154	chr5	74648602	74648603	rs12654264	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	LDL cholesterol	2,758 European ancestry individuals	18,544 European ancestry individuals	5q13.3	HMGCR	rs12654264-T	0.39	1E-20		0.1	[0.08-0.12] percentage SD increase	Affymetrix [389878]	N
1154	chr5	74651083	74651084	rs3846662	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	5q13.3	HMGCR	rs3846662-G	0.44	2E-11		0.08	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
1154	chr5	74651083	74651084	rs3846662	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	5q13.3	HMGCR	rs3846662-G	0.44	3E-19		0.09	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
1154	chr5	74655725	74655726	rs3846663	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	5q13.3	COL4A3BP, HMGCR	rs3846663-T	0.39	6E-6	(TC)	0.19	[NR] mg/dL increase	Affymetrix [408775]	N
1154	chr5	74655725	74655726	rs3846663	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	5q13.3	COL4A3BP, HMGCR	rs3846663-T	0.39	1E-6	(LDL-C)	0.21	[NR] mg/dL increase	Affymetrix [408775]	N
1154	chr5	74655725	74655726	rs3846663	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	5q13.3	HMGCR	rs3846663-T	0.38	8E-12		0.07	[0.03-0.11] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1154	chr5	74656538	74656539	rs12916	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	5q13.3	HMGCR	rs12916-C	0.40	8E-78		0.073	[NR] unit increase	NR [NR] (imputed)	N
1154	chr5	74656538	74656539	rs12916	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	5q13.3	HMGCR	rs12916-C	0.4	5E-74		0.68	[NR] unit increase	NR [NR] (imputed)	N
1154	chr5	74656538	74656539	rs12916	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	5q13.3	HMGCR	rs12916-T	0.62	1E-11		0.02	[0.01-0.03] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1154	chr5	74656538	74656539	rs12916	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	5q13.3	HMGCR	rs12916-C	0.39	5E-45		2.45	[2.1-2.8] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1154	chr5	74656538	74656539	rs12916	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	5q13.3	HMGCR	rs12916-C	0.39	9E-47		2.84	[2.45-3.23] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1157	chr5	74988368	74988369	rs888789	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	5q13.3	FLJ35779	rs888789-A	0.46	4E-6		0.024	[0.014-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1157	chr5	75003677	75003678	rs2307111	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	5q13.3	C5orf37	rs2307111-T	0.6	3E-12	(Obesity class I)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1157	chr5	75015241	75015242	rs2112347	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q13.3	POC5	rs2112347-T	0.631	3E-13	(EA, women)	0.03	[0.022-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1157	chr5	75015241	75015242	rs2112347	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q13.3	POC5	rs2112347-T	0.629	6E-17	(EA)	0.026	[0.02-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1157	chr5	75015241	75015242	rs2112347	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q13.3	POC5	rs2112347-T	0.628	5E-7	(EA, men)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1157	chr5	75015241	75015242	rs2112347	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q13.3	POC5	rs2112347-T	0.621	2E-17		0.025	[0.02-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1157	chr5	75015241	75015242	rs2112347	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	5q13.3	C5orf37	rs2112347-T	0.63	4E-9	(Obesity class II)	1.09	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1157	chr5	75015241	75015242	rs2112347	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	5q13.3	C5orf37	rs2112347-T	0.63	1E-8	(Overweight)	1.04	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1157	chr5	75015241	75015242	rs2112347	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	5q13.3	FLJ35779, HMGCR	rs2112347-T	0.63	2E-13		0.1	[0.06-0.14] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1159	chr5	75349501	75349502	rs117041666	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q13.3	NR	rs117041666-?	NR	2E-6	(EA)	1.1009	[0.65-1.55] unit decrease	Illumina [up to 11892802] (imputed)	N
1160	chr5	75439199	75439200	rs6453204	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		5q13.3	SV2C	rs6453204-?	NR	5E-8		2.2	[NR]	Illumina [up to 810372] (imputed)	N
1160	chr5	75439199	75439200	rs6453204	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer (hypertension) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		5q13.3	SV2C	rs6453204-?	NR	6E-8		3.3	[NR]	Illumina [up to 810372] (imputed)	N
1161	chr5	75502409	75502410	rs4704296	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	5q13.3	intergenic	rs4704296-?	0.53	6E-6		1.11	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1161	chr5	75622813	75622814	rs3733860	23650146	Tang W	2013-05-05	Genet Epidemiol	A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Venous thromboembolism	1,618 European ancestry cases, 42,881 European ancestry controls	3,231 European ancestry cases, 3,536 European ancestry controls	5q13.3	SV2C	rs3733860-A	0.87	8E-6		1.19	[1.10-1.29]	Affymetrix, Illumina [2543885] (imputed)	N
1162	chr5	75649279	75649280	rs73117804	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q13.3	NR	rs73117804-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
1164	chr5	75920971	75920972	rs457717	20068591	Van Laer L	2010-01-13	Eur J Hum Genet	A genome-wide association study for age-related hearing impairment in the Saami.	Hearing impairment	347 Finnish Saami individuals	NA	5q13.3	IQGAP2	rs457717-T	0.25	4E-7	(PC3)			Affymetrix [83381]	N
1165	chr5	76023493	76023494	rs2227831	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	5q13.3	F2R	rs2227831-G	NR	1E-15		0.021	[0.015-0.027] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1165	chr5	76046938	76046939	rs17568628	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	5q13.3	F2R	rs17568628-T	NR	1E-9		6.074	[4.13-8.02] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1165	chr5	76058508	76058509	rs2047076	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	5q13.3	intergenic	rs2047076-C	0.9998	2E-8	(Japanese)	2.678	[1.75-3.61] unit increase	Illumina [NR] (imputed)	N
1166	chr5	76224170	76224171	rs2460504	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	5q13.3	IQGAP2	rs2460504-C	0.18	5E-6	(AA-triglyceride response)	24.57	[14.06-35.08] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1168	chr5	76417041	76417042	rs6453278	19812673	Weiss LA	2009-10-08	Nature	A genome-wide linkage and association scan reveals novel loci for autism.	Autism	1,553 cases from 1,031 families	2,073 trios	5q13.3	NR	rs6453278-?	NR	5E-6		1.25	[NR]	Affymetrix [~ 365000]	N
1168	chr5	76424948	76424949	rs4457053	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	5q13.3	ZBED3	rs4457053-G		3E-12		1.08	[1.06-1.11]	Affymetrix, Illumina [2426886] (imputed)	N
1168	chr5	76518441	76518442	rs4704397	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	5q13.3	PDE8B	rs4704397-A	0.391	2E-6		1.174	[1.10-1.26]	Illumina [870065]	N
1168	chr5	76518441	76518442	rs4704397	18514160	Arnaud-Lopez L	2008-06-01	Am J Hum Genet	Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.	Thyroid stimulating hormone	4,300 Sardinian indivduals	1,164 European ancestry individuals, 1,136 Old Order Amish individuals, 1,858 Sardinian individuals	5q13.3	PDE8B	rs4704397-A	0.44	2E-20		0.25	[0.17-0.33] uIU/ml increase	Affymetrix [362129]	N
1168	chr5	76521867	76521868	rs1382879	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	5q13.3	PDE8B	rs1382879-G	0.39	7E-18	(EA)	0.09	[0.07-0.11] unit increase	Illumina [up to 905285]	N
1168	chr5	76530348	76530349	rs6885099	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	5q13.3	PDE8B	rs6885099-A	0.594	6E-24	(TSH - Females)	0.12	[0.096-0.144] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1168	chr5	76530348	76530349	rs6885099	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	5q13.3	PDE8B	rs6885099-A	0.594	3E-38	(TSH - Males)	0.168	[0.14-0.19] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1168	chr5	76530348	76530349	rs6885099	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	5q13.3	PDE8B	rs6885099-A	0.594	2E-26	(TSH)	0.141	[0.12-0.16] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1168	chr5	76535810	76535811	rs2046045	22494929	Rawal R	2012-04-16	Hum Mol Genet	Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.	Thyroid function	3,736 European ancestry individuals	3,727 European ancestry individuals	5q13.3	PDE8B	rs2046045-T	0.618	3E-27		0.115	[0.093-0.137] unit decrease	Affymetrix, Illumina [2524918] (imputed)	N
1170	chr5	76781470	76781471	rs163030	21502949	Stein JL	2011-04-19	Mol Psychiatry	Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search.	Caudate nucleus volume	734 European ancestry individuals	464 European ancestry individuals	5q13.3	PDE8B, WDR41	rs163030-A	0.50	2E-7	(Right caudate)	117.5	[73.01-161.99] mm3 increase	Illumina [520459]	N
1174	chr5	77291939	77291940	rs12655917	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	5q14.1	AP3B1	rs12655917-C	0.01	6E-7	(Insulin)	40.0	[27 - 51] % decrease	Affymetrix [872243]	N
1175	chr5	77348639	77348640	rs73132886	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5q14.1	intergenic	rs73132886-C	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1177	chr5	77624013	77624014	rs9293741	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q14.1	NR	rs9293741-A	NR	1E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1177	chr5	77630853	77630854	rs6881634	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	5q14.1	SCAMP1, LHFPL2	rs6881634-?	NR	2E-6				Illumina [516645]	N
1179	chr5	77987523	77987524	rs784420	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	5q14.1	intergenic	rs784420-G	NR	8E-6	(Trust)	0.12	[0.067-0.173] unit decrease	Illumina [628922]	N
1180	chr5	78110531	78110532	rs6453417	23728934	Yang L	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.	Attention deficit hyperactivity disorder	1,040 Han Chinese ancestry cases, 963 Han Chinese ancestry controls	NA	5q14.1	ARSB	rs6453417-?	NR	5E-6				Affymetrix [656051]	N
1182	chr5	78259887	78259888	rs337847	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	5q14.1	ARSB	rs337847-?	NR	7E-6				Illumina [516645]	N
1182	chr5	78272941	78272942	rs2052550	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	5q14.1	ARSB	rs2052550-?	NR	8E-6	(serum ferritin)			Illumina [315887]	N
1182	chr5	78278228	78278229	rs672413	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	5q14.1	LHFPL2, DMGDH, ARSB	rs672413-A	0.32	5E-14				Affymetrix, Illumina [2379663] (imputed)	N
1182	chr5	78291959	78291960	rs705415	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	5q14.1	DMGDH, ARSB	rs705415-T	0.14	5E-10				Affymetrix, Illumina [2379663] (imputed)	N
1182	chr5	78300396	78300397	rs3797535	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	5q14.1	DMGDH, ARSB, BHMT2	rs3797535-T	0.08	2E-15				Affymetrix, Illumina [2379663] (imputed)	N
1182	chr5	78304313	78304314	rs11951068	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	5q14.1	DMGDH, ARSB, BHMT2	rs11951068-A	0.07	2E-11				Affymetrix, Illumina [2379663] (imputed)	N
1182	chr5	78316475	78316476	rs921943	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	5q14.1	DMGDH, ARSB, BHMT2	rs921943-T	0.29	2E-39				Affymetrix, Illumina [2379663] (imputed)	N
1182	chr5	78316475	78316476	rs921943	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	5q14.1	BHMT2, BHMT, DMGDH	rs921943-T	NR	9E-28		0.246	[0.20-0.29] unit increase	Illumina [> 2500000] (imputed)	N
1182	chr5	78337224	78337225	rs248381	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	5q14.1	ARSB, BHMT2, DMGDH	rs248381-A	0.50	3E-13		0.025	[0.019-0.031] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
1182	chr5	78341296	78341297	rs17823642	23378610	Xie W	2013-02-01	Diabetes	Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.	Metabolite levels	1,004 European ancestry individuals	339 European ancestry individuals	5q14.1	BHMT2, BHMT	rs17823642-C	0.89	2E-9	(betaine)	0.38	[0.26-0.51] unit increase	Affymetrix [909508] (imputed)	N
1182	chr5	78344975	78344976	rs17823744	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	5q14.1	ARSB, BHMT2, DMGDH	rs17823744-A	0.88	1E-16		0.045	[0.035-0.055] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
1182	chr5	78346768	78346769	rs16876394	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q14.1	BHMT	rs16876394-T	0.9	1E-19	(betaine)	0.03	[0.024-0.036] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1183	chr5	78385844	78385845	rs10944	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	5q14.1	BHMT2, BHMT	rs10944-T	0.49	1E-36				Affymetrix, Illumina [2379663] (imputed)	N
1183	chr5	78411323	78411324	rs7700970	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	5q14.1	BHMT, BHMT2, JMY	rs7700970-T	0.3	2E-11		0.03	[0.022-0.038] unit increase	Affymetrix, Illumina [2378986] (imputed)	N
1183	chr5	78414336	78414337	rs506500	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	5q14.1	BHMT2, BHMT, DMGDH	rs506500-?	NR	8E-12	(Conditioned on rs921943)			Illumina [> 2500000] (imputed)	N
1183	chr5	78416415	78416416	rs567754	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	5q14.1	BHMT, BHMT2, JMY	rs567754-T	0.33	5E-6		0.018	[0.010-0.026] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
1183	chr5	78416415	78416416	rs567754	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	5q14.1	BHMT, BHMT2, JMY	rs567754-T	0.34	8E-20				Affymetrix, Illumina [2379663] (imputed)	N
1183	chr5	78425187	78425188	rs558133	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	5q14.1	BHMT2, JMY, BHMT	rs558133-A	0.69	6E-11				Affymetrix, Illumina [2379663] (imputed)	N
1185	chr5	78745041	78745042	rs6859667	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	5q14.1	JMY, HOMER1	rs6859667-T	0.96	1E-7		0.045	[0.029-0.061] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
1185	chr5	78745041	78745042	rs6859667	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	5q14.1	HOMER1, JMY	rs6859667-T	0.96	4E-12				Affymetrix, Illumina [2379663] (imputed)	N
1185	chr5	78756777	78756778	rs10078095	18193045	Sanna S	2008-01-13	Nat Genet	Common variants in the GDF5-UQCC region are associated with variation in human height.	Height	1,084 European ancestry cases, 1,287 European ancestry controls, 4,298 European individuals	23,684 European ancestry individuals, 3,860 African American individuals	5q14.1	HOMER1	rs10078095-C	0.22	3E-6		0.9	[NR] cm increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1186	chr5	78829248	78829249	rs7713917	20673876	Rietschel M	2010-07-29	Biol Psychiatry	Genome-wide association-, replication-, and neuroimaging study implicates HOMER1 in the etiology of major depression.	Major depressive disorder	597 European ancestry cases, 1,295 European ancestry controls	409 European ancestry cases, 541 European ancestry controls	5q14.1	HOMER1	rs7713917-G	0.60	1E-6		1.33	[1.19-1.49]	Illumina [491238]	N
1186	chr5	78845710	78845711	rs13358260	21700879	Qi L	2011-06-23	Diabetes	Novel locus FER is associated with serum HMW adiponectin levels.	Adiponectin levels	1,591 European ancestry female individuals	626 European ancestry individuals from 235 families	5q14.1	PAPD4	rs13358260-C	0.93	5E-6				Affymetrix [2543887] (imputed)	N
1187	chr5	78943647	78943648	rs6859704	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q14.1	NR	rs6859704-C	0.0769240376391982	8E-6	(IGP29)	0.2598	[0.15-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
1187	chr5	79029310	79029311	rs74935252	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5q14.1	intergenic	rs74935252-A	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
1188	chr5	79098997	79098998	rs259067	23818313	Kim HJ	2012-11-06	Obesity (Silver Spring)	Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.	Obesity	756 Mongolian ancestry individuals from 55 families	1,301 Korean ancestry individuals	5q14.1	CMYA5	rs259067-A	0.47	1E-6	(BMI)			Illumina [567072]	N
1188	chr5	79099463	79099464	rs7735699	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5q14.1	NR	rs7735699-?	NR	6E-6		1.2285	[NR]	Affymetrix [722112]	N
1188	chr5	79143193	79143194	rs10079417	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	5q14.1	CMYA5	rs10079417-T	0.23	6E-6		0.018	[0.010-0.026] unit increase	Affymetrix, Illumina [2378986] (imputed)	N
1190	chr5	79303632	79303633	rs2451932	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	5q14.1	intergenic	rs2451932-G	0.493480555555556	2E-6		0.034925025	[0.02-0.049] unit increase	Illumina [1632371] (imputed)	N
1190	chr5	79366248	79366249	rs256438	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	5q14.1	THBS4	rs256438-C	0.36	6E-6	(EA)	0.05	[0.03-0.07] unit increase	Illumina [up to 905285]	N
1191	chr5	79446903	79446904	rs73772260	23979607	Lubke GH	2013-08-27	Mol Psychiatry	Genome-wide analyses of borderline personality features.	Borderline personality disorder features	up to 7,125 individuals	1,301 individuals	5q14.1	SERINC5	rs73772260-?	NR	4E-7		1.73	[-0.05589-3.51589] unit decrease	Affymetrix, Illumina [6670475]	N
1192	chr5	79581767	79581768	rs71636213	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	5q14.1	SERINC5, KRT18P45	rs71636213-G	0.1	9E-6		1.18	[1.10-1.27]	NR [NR]	N
1197	chr5	80337456	80337457	rs520865	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	5q14.1	RASGRF2	rs520865-A	0.37	4E-6	(Right superior frontal gyrus)	770.6	[NR] unit increase	Affymetrix [517946]	N
1198	chr5	80406565	80406566	rs138206701	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	5q14.1	RASGRF2	rs138206701-A	0.98	1E-7		0.327	[0.21-0.45] unit decrease	Illumina [6150213] (imputed)	N
1198	chr5	80406565	80406566	rs138206701	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders	543 European ancestry female cases, 1,116 European ancestry female controls	NA	5q14.1	RASGRF2	rs138206701-A	0.98	4E-6		0.425	[0.24-0.61] unit decrease	Illumina [6150213] (imputed)	N
1198	chr5	80411220	80411221	rs4703822	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	5q14.1	RASGRF2	rs4703822-?	0.72	4E-6	(CP)	1.59	[1.3-1.92]	Illumina [NR]	N
1199	chr5	80502902	80502903	rs17228156	21130132	Mick E	2010-12-01	Prog Neuropsychopharmacol Biol Psychiatry	Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.	Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)	140 child cases	NA	5q14.1	RASGRF2	rs17228156-C	0.094	8E-6				Affymetrix [316934]	N
1200	chr5	80648694	80648695	rs7729671	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	5q14.1	NR	rs7729671-?		3E-6	(females)			Illumina [1211988] (imputed)	N
1200	chr5	80654965	80654966	rs4703516	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	5q14.1	NR	rs4703516-?	NR	3E-6	(Meta-All, NSCL/P)			NR [497084]	N
1200	chr5	80719124	80719125	rs7732320	22472174	Xiao Y	2012-04-03	Clin Cancer Res	SSBP2 variants are associated with survival in glioblastoma patients.	Glioblastoma	315 European ancestry cases	434 European ancestry cases	5q14.1	SSBP2	rs7732320-T	0.11	1E-6		1.64	[1.34-2.00]	Illumina [314635]	N
1203	chr5	81087533	81087534	rs410644	21079607	Wang K	2010-11-16	Mol Psychiatry	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	Anorexia nervosa	1,033 European ancestry cases, 3,733 European ancestry controls	NA	5q14.1	SSBP2	rs410644-?	0.47	7E-6				Illumina [~ 598000]	N
1204	chr5	81173264	81173265	rs12658240	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	5q14.1	intergenic	rs12658240-?	NR	8E-6		0.0291	[0.016-0.042] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
1205	chr5	81379393	81379394	rs79581221	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	5q14.1	ATG10	rs79581221-T	NR	1E-6	(Pi10, Cases)	0.077	[0.046-0.108] unit decrease	Illumina [7600000] (imputed)	N
1210	chr5	81939317	81939318	rs1032757	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	5q14.2	NR	rs1032757-T	0.07	2E-6		1.96	[1.40-2.74]	Illumina [~ 550000]	N
1210	chr5	82012853	82012854	rs4703911	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	5q14.2	TMEM167A, XRCC4, ATP6AP1L	rs4703911-?	NR	7E-6		0.22	[0.12-0.32] unit increase	Illumina [1075436] (imputed)	N
1211	chr5	82180305	82180306	rs4518370	25057126	Ramos YF	2014-07-23	J Med Genet	Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.	Osteoarthritis biomarkers	up to 4,654 European ancestry individuals	964 European ancestry individuals	5q14.2	SCARNA18, XRCC4, TMEM167A	rs4518370-G	0.75	1E-6	(uCTX-II)	0.11	[NR] unit decrease	Illumina [up to 1961964] (imputed)	N
1213	chr5	82410795	82410796	rs114397494	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	5q14.2	TMEM167A, XRCC4	rs114397494-G0.0414	0.0414	5E-6		2.96	[2.49-3.43]	Illumina [8809853] (imputed)	N
1213	chr5	82433780	82433781	rs6452524	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	5q14.2	XRCC4	rs6452524-?,rs6887846-?	(GA)	2E-7				Affymetrix [405022]	N
1213	chr5	82436360	82436361	rs6887846	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	5q14.2	XRCC4	rs6452524-?,rs6887846-?	(GA)	2E-7				Affymetrix [405022]	N
1216	chr5	82819118	82819119	rs310518	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	5q14.3	VCAN	rs310518-?	0.79	7E-8		1.27	[1.16-1.37]	Affymetrix [662108]	N
1217	chr5	82845488	82845489	rs3852186	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5q14.3	VCAN, XRCC4, HAPLN1	rs3852186-A	0.046	9E-6		3.17	[1.86-5.42]	Illumina [1556551]	N
1217	chr5	82889909	82889910	rs310501	20516156	Lewis CM	2010-06-01	Am J Psychiatry	Genome-wide association study of major recurrent depression in the U.K. population.	Major depressive disorder	1,636 European ancestry cases, 1,594 European ancestry controls	1,418 European ancestry cases, 1,918 European ancestry controls	5q14.3	VCAN	rs310501-?	0.33	7E-6		1.16	[NR]	Illumina [471747]	N
1217	chr5	82960733	82960734	rs3846635	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q14.3	HAPLN1	rs3846635-G	0.08	2E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1218	chr5	82985738	82985739	rs4466137	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Prostate cancer	59 cases, 558 controls	NA	5q14.3	HAPLN1	rs4466137-?	NR	3E-6				Affymetrix [70897]	N
1219	chr5	83173592	83173593	rs4552569	22138694	Lin Z	2011-12-04	Nat Genet	A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.	Ankylosing spondylitis	1,837 Han Chinese ancestry cases, 4,231 Han Chinese ancestry controls	2,100 Han Chinese ancestry cases, 3,496 Han Chinese ancestry controls	5q14.3	HAPLN1, EDIL3	rs4552569-C	0.28	9E-10		1.21	[1.14-1.29]	Illumina [1356350] (imputed)	N
1220	chr5	83260937	83260938	rs2301070	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	5q14.3	EDIL3	rs2301070-?	NR	9E-6			[NR]	Illumina [283437]	N
1222	chr5	83499642	83499643	rs347344	20237162	Bozaoglu K	2010-03-17	J Clin Endocrinol Metab	Chemerin, a novel adipokine in the regulation of angiogenesis.	Chemerin levels	858 Mexican American family members and individuals	NA	5q14.3	EDIL3	rs347344-?	NR	1E-6				Illumina [542944]	N
1225	chr5	83907228	83907229	rs72766477	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	5q14.3	EDIL3	rs72766477-A		5E-7		1.3402	[1.23-1.45]	Illumina [up to 4972397] (imputed)	N
1226	chr5	84074291	84074292	rs144704329	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q14.3	NR	rs144704329-?	NR	2E-7	(Latino)	1.5768	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1226	chr5	84084775	84084776	rs113524839	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	5q14.3	EDIL3	rs113524839-T	0.11	8E-7	(Cortical Ab)			Illumina [6108668] (imputed)	N
1230	chr5	84583768	84583769	rs12153606	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Cu levels)	2,603 European ancestry individuals	NA	5q14.3	COX7C, EDIL3	rs12153606-?	NR	2E-6		0.159	[0.092-0.226] unit increase	Illumina [> 2500000] (imputed)	N
1230	chr5	84606527	84606528	rs4920799	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Echocardiographic traits	Up to 1,238 European ancestry individuals	NA	5q14.3	intergenic	rs4920799-?	NR	7E-6	(LVDD)			Affymetrix [70897]	N
1235	chr5	85217868	85217869	rs1583686	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q14.3	NBPF22P	rs1583686-A	0.124	1E-6	(ALT )	0.04	[NR] U/L increase	Illumina [899892]	N
1237	chr5	85466139	85466140	rs1422110	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	5q14.3	NBPF22P	rs1422110-G	0.46	8E-6	(IIV)	0.19	[0.11-0.27] unit decrease	Illumina [799713]	N
1242	chr5	86174146	86174147	rs1493354	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)	119 Japanese ancestry cases, 105 Japanese ancestry controls	NA	5q14.3	RPL10AP9	rs1493354-T	0.22	9E-6	(Dominant)	2.37	[1.56-3.6]	Illumina [555600]	N
1242	chr5	86177772	86177773	rs2471042	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)	119 Japanese ancestry cases, 105 Japanese ancestry controls	NA	5q14.3	RPL10AP9	rs2471042-T	0.21	5E-6	(Dominant)	2.51	[1.64-3.81]	Illumina [555600]	N
1244	chr5	86432616	86432617	rs2032794	21173776	de Moor MH	2010-12-21	Mol Psychiatry	Meta-analysis of genome-wide association studies for personality.	Personality dimensions	17,375 European ancestry individuals	3,294 European ancestry individuals	5q14.3	RASA1	rs2032794-C	NR	2E-6	(openness to experience)	0.48	[0.30-0.66] unit increase	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
1245	chr5	86610988	86610989	rs35148638	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer aggressiveness	4,545 European ancestry cases	7,973 European ancestry cases	5q14.3	RASA1, CCNH	rs35148638-C	0.255	6E-9		0.088	[0.059-0.117] unit increase	Illumina [1531807] (imputed)	N
1249	chr5	87034351	87034352	rs1673101	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	5q14.3	RASA1, CCNH	rs1673101-A	0.3312154	4E-6	(% improvement - SSRI treated - 2 weeks)	0.1877	[0.11-0.27] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
1249	chr5	87095249	87095250	rs710369	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q14.3	NR	rs710369-C	NR	7E-7		1.1363636	[NR]	Illumina [7158791] (imputed)	N
1251	chr5	87377101	87377102	rs1429606	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	5q14.3	NR	rs1429606-?		1E-6		0.23	unit increase	Illumina [1211988] (imputed)	N
1254	chr5	87697532	87697533	rs6870983	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q14.3	LOC100505894	rs6870983-C	0.782	4E-7	(EA)	0.018	[0.011-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1254	chr5	87697532	87697533	rs6870983	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q14.3	LOC100505894	rs6870983-C	0.768	8E-7		0.017	[0.01-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1254	chr5	87756707	87756708	rs6452790	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	5q14.3	TMEM161B_AS1	rs6452790-?	NR	1E-6		0.0314	[0.019-0.044] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
1254	chr5	87798235	87798236	rs2194025	23776548	Sim X	2013-06-12	PLoS One	Genetic loci for retinal arteriolar microcirculation.	Retinal arteriolar caliber	18,722 European ancestry individuals	3,939 European ancestry individuals	5q14.3	TMEM161B, MEF2C	rs2194025-G	0.91	2E-12		1.6	[1.15-2.05] unit decrease	Illumina [2137729] (imputed)	N
1255	chr5	87847585	87847586	rs17421627	21060863	Ikram MK	2010-10-28	PLoS Genet	Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.	Retinal vascular caliber	15,358 European ancestry individuals	6,652 European ancestry individuals	5q14.3	MEF2C	rs17421627-G	0.08	7E-16	(Retinal venular caliber)	3.0	[2.27-3.73] um increase	Affymetrix, Illumina [2194468] (imputed)	N
1256	chr5	87965020	87965021	rs6893807	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	5q14.3	LINC00461	rs6893807-G	0.46	1E-6		0.024	[0.014-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1256	chr5	87968863	87968864	rs6882046	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	5q14.3	intergenic	rs6882046-A	0.727	9E-7		0.024	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1256	chr5	88005567	88005568	rs181900	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q14.3	NR	rs181900-C	NR	6E-8		1.1494253	[NR]	Illumina [7158791] (imputed)	N
1257	chr5	88088438	88088439	rs770189	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	5q14.3	MEF2C	rs770189-?	NR	3E-6	(CB-PWV)			Affymetrix [70897]	N
1257	chr5	88099950	88099951	rs4521516	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	5q14.3	MEF2C	rs4521516-G	NR	2E-9		0.008	[0.006-0.01] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1257	chr5	88138730	88138731	rs11951031	23572186	Zheng HF	2013-04-09	J Med Genet	Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm.	Bone mineral density	5,866 European ancestry individuals	715 Mexican American individuals	5q14.3	MEF2C	rs11951031-T	0.06	9E-9		0.2	[0.12-0.28] unit decrease	Illumina [NR] (imputed)	N
1257	chr5	88152116	88152117	rs700585	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	5q14.3	MEF2C	rs700585-C	NR	1E-9		2.703	[1.84-3.57] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1257	chr5	88183650	88183651	rs17560407	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	5q14.3	MEF2C	rs17560407-G	0.27	5E-7	(EA-triglyceride response)	23.23	[14.14-32.32] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1257	chr5	88204852	88204853	rs28669119	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q14.3	NR	rs28669119-G	NR	4E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1258	chr5	88223419	88223420	rs190982	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	5q14.3	MEF2C	rs190982-A	0.592	3E-8		1.0753	[1.05-1.11]	Illumina [7055881] (imputed)	N
1258	chr5	88327781	88327782	rs6894139	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q14.3	MEF2C	rs6894139-T	0.562	6E-24		0.03	[0.024-0.036] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1258	chr5	88327781	88327782	rs6894139	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	5q14.3	MEF2C	rs6894139-?	NR	7E-18	(FNK)			Affymetrix, Illumina [5842825] (imputed)	N
1259	chr5	88354674	88354675	rs10037512	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	5q14.3	MEF2C	rs10037512-T	0.42	3E-10		0.041	[0.029-0.053] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1259	chr5	88354674	88354675	rs10037512	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q14.3	MEF2C	rs10037512-T	0.56	2E-18		0.032	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1259	chr5	88376060	88376061	rs1366594	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	5q14.3	MEF2C	rs1366594-A	0.54	4E-61	(FNBMD)	0.08	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1259	chr5	88376060	88376061	rs1366594	21533022	Duncan EL	2011-04-21	PLoS Genet	Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.	Bone mineral density	900 European ancestry female individuals with low hip bone mineral density, 1,055 European ancestry female individuals with high hip bone mineral density	20,898 European ancestry female individuals	5q14.3	MEF2C	rs1366594-C	NR	8E-10	(femoral neck)	0.14	[NR] unit increase	Illumina [2543887] (imputed)	N
1259	chr5	88376060	88376061	rs1366594	21533022	Duncan EL	2011-04-21	PLoS Genet	Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.	Bone mineral density	900 European ancestry female individuals with low hip bone mineral density, 1,055 European ancestry female individuals with high hip bone mineral density	20,898 European ancestry female individuals	5q14.3	MEF2C	rs1366594-C	NR	1E-7	(total hip)	0.35	[NR] unit increase	Illumina [2543887] (imputed)	N
1259	chr5	88376060	88376061	rs1366594	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	5q14.3	MEF2C	rs1366594-C	0.45	1E-13		0.09	[0.07-0.11] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
1262	chr5	88743961	88743962	rs62378245	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q14.3	NR	rs62378245-C	NR	1E-8		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1262	chr5	88746330	88746331	rs16867576	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	5q14.3	MEF2C	rs16867576-A	0.883	5E-9		1.101	[1.066-1.138]	Affymetrix, Illumina [9005918] (imputed)	N
1264	chr5	89021577	89021578	rs10514310	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q14.3	intergenic	rs10514310-G	0.208	7E-6	(Waist:height)	0.03	[NR] unit increase	Illumina [899892]	N
1264	chr5	89051856	89051857	rs6864869	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	5q14.3	intergenic	rs6864869-C	0.115	3E-6	(3MSE)	2.7468	[1.60-3.90] unit decrease	Affymetrix [> 371951] (imputed)	N
1264	chr5	89109749	89109750	rs10514317	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Sex hormone-binding globulin levels	1,598 European ancestry female individuals	NA	5q14.3	intergenic	rs10514317-T	0.12	7E-7		0.132	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
1268	chr5	89546108	89546109	rs12518099	19734900	Rung J	2009-09-06	Nat Genet	Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.	Type 2 diabetes and other traits	679 European ancestry cases, 697 European ancestry controls	5,579 European ancestry cases, 7,096 European ancestry controls	5q14.3	LOC72901, CETN3	rs12518099-C	0.23	7E-7		1.16	[1.10-1.22]	Illumina [392365]	N
1269	chr5	89780970	89780971	rs2562519	21810746	Chantarangsu S	2011-08-01	Clin Infect Dis	Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.	Nevirapine-induced rash	72 Thai ancestry nevirapine-induced rash HIV cases, 77 Thai ancestry nevirapine-tolerant rash HIV cases	88 Thai ancestry nevirapine-induced rash HIV cases, 145 Thai ancestry nevirapine-tolerant HIV cases	5q14.3	POLR3G	rs2562519-A	0.5	5E-6				Illumina [499730]	N
1272	chr5	90155413	90155414	rs2247419	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q14.3	NR	rs2247419-G	NR	6E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1273	chr5	90209823	90209824	rs10074525	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q14.3	GPR98	rs10074525-G	0.13	9E-6	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1273	chr5	90299222	90299223	rs1967256	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	5q14.3	GPR98	rs1967256-?	0.148	3E-8	(olanzapine-hemoglobin A1c			Affymetrix [492900]	N
1274	chr5	90424278	90424279	rs10514345	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	5q14.3	GPR98	rs10514345-?	NR	2E-7	(NeckZ1)			Affymetrix [70897]	N
1277	chr5	90732224	90732225	rs10474352	25038754	Cai Q	2014-07-20	Nat Genet	Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.	Breast cancer	2,867 Chinese ancestry cases, 2,285 Chinese ancestry controls, 2,246 Korean ancestry cases, 2,052 Korean ancestry controls	5,029 Chinese ancestry cases, 5,302 Chinese ancestry controls, 6,066 Korean ancestry cases, 8,003 Korean ancestry controls, 6,572 Japanese ancestry cases, 6,539 Japanese ancestry controls, 16,003 European ancestry cases, 41,335 European ancestry controls	5q14.3	ARRDC3	rs10474352-C	0.482	2E-9	(East Asian)	1.09	[1.06-1.12]	Affymetrix [up to 1930412] (imputed)	N
1277	chr5	90762747	90762748	rs933688	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	5q14.3	LOC133789	rs933688-?	0.17	6E-6	(EVNV)	1.48	[NR]	Illumina [~ 518000]	N
1279	chr5	90981386	90981387	rs13153333	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q14.3	ARRDC3	rs13153333-G	0.04	8E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1281	chr5	91275312	91275313	rs421379	25526632	Rafiq S	2014-12-19	PLoS One	A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis.	Breast cancer (survival)	1,341 European ancestry cases	1,523 European ancestry cases	5q14.3	ARRDC3	rs421379-?	NR	1E-6		1.49	[1.27-1.75]	Illumina [6500000] (imputed)	N
1281	chr5	91275312	91275313	rs421379	23319801	Rafiq S	2013-01-14	Cancer Res	Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.	Breast cancer (prognosis)	536 European ancestry early-onset cases	1,516 European ancestry early-onset cases	5q14.3	ARRDC3	rs421379-?	0.05	1E-6		1.61	[1.33-1.96]	Illumina [487496]	N
1283	chr5	91518720	91518721	rs10055544	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-10)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	5q14.3	LOC100131236	rs10055544-A		1E-7	(AA)			Illumina [NR]	N
1286	chr5	91893791	91893792	rs1027643	22544364	Turnbull C	2012-04-29	Nat Genet	A genome-wide association study identifies susceptibility loci for Wilms tumor.	Wilms tumor	757 European ancestry cases, 1,879 European ancestry controls	1,488 European ancestry cases, 3,851 European ancestry controls	5q14.3	NR	rs1027643-T	0.05	5E-10		1.43	[1.18-1.73]	Illumina [599255]	N
1288	chr5	92154578	92154579	rs17668565	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q14.3	intergenic	rs17668565-G	0.403	9E-6	(BMI z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1288	chr5	92154578	92154579	rs17668565	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q14.3	intergenic	rs17668565-G	0.403	7E-6	(Hip circumference )	0.02	[NR] cm increase	Illumina [899892]	N
1288	chr5	92154578	92154579	rs17668565	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q14.3	intergenic	rs17668565-G	0.403	5E-7	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1288	chr5	92154578	92154579	rs17668565	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q14.3	intergenic	rs17668565-G	0.403	2E-6	(Fat mass )	0.03	[NR] % increase	Illumina [899892]	N
1289	chr5	92343194	92343195	rs147721431	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	5q15	NR	rs147721431-?	NR	1E-6				NR [up to 8466825] (imputed)	N
1290	chr5	92464415	92464416	rs12519773	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	5q15	intergenic	rs12519773-?	0.52	2E-6		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1290	chr5	92487542	92487543	rs13173682	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q15	POLD2P1	rs13173682-A	0.231	9E-6	(Moderate&vigorous activity )	0.02	[NR] min/d increase	Illumina [899892]	N
1290	chr5	92487542	92487543	rs13173682	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q15	POLD2P1	rs13173682-A	0.231	6E-6	(Moderate activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1291	chr5	92567538	92567539	rs4869419	21273288	Del Greco M F	2011-01-27	Hum Mol Genet	Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.	Natriuretic peptide levels	1,325 European ancestry individuals	1,746 European ancestry individuals	5q15	CCT7P2	rs4869419-G	0.08	4E-6		0.2	[0.12-0.28] unit decrease	Illumina [~ 2500000] (imputed)	N
1298	chr5	93557701	93557702	rs17376456	21310492	Huang YC	2011-02-08	Ophthalmology	Genome-wide association study of diabetic retinopathy in a Taiwanese population.	Diabetic retinopathy	174 Han Chinese ancestry Type 2 diabetes cases, 575 Han Chinese ancestry Type 2 diabetes controls, 100 Han Chinese ancestry non-diabetic controls	NA	5q15	intergenic	rs17376456-A	NR	3E-15				Illumina [~ 550000]	N
1299	chr5	93697851	93697852	rs2434364	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	5q15	C5orf36	rs2434364-?		7E-6		0.326	[NR] unit increase	Illumina [430487]	N
1300	chr5	93810207	93810208	rs6869388	22318345	Cha PC	2012-02-09	J Hum Genet	A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.	Gallbladder cancer	41 Japanese ancestry cases, 866 Japanese ancestry controls	30 Japanese ancestry cases, 898 Japanese ancestry controls	5q15	NR	rs6869388-C	0.04	7E-6		72.7	[11.19-472.10]	Illumina [425706] (imputed)	N
1303	chr5	94148537	94148538	rs469339	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	5q15	MCTP1	rs469339-A	0.977	3E-6		0.144	[0.083-0.205] unit decrease	Illumina [6150213] (imputed)	N
1303	chr5	94154587	94154588	rs17418283	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	5q15	MCTP1	rs17418283-C	0.28	1E-7		1.21	[1.13-1.30]	Affymetrix, Illumina [2366197] (imputed)	N
1306	chr5	94519872	94519873	rs75927821	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q15	NR	rs75927821-?	NR	4E-6	(EA)	0.3466	[0.2-0.49] unit decrease	Illumina [up to 11892802] (imputed)	N
1307	chr5	94653872	94653873	rs255982	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q15	NR	rs255982-G	0.848905209260908	8E-6	(IGP31)	0.2077	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
1309	chr5	94983528	94983529	rs17790731	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio)	Up to 185 European ancestry cases	NA	5q15	RFESD	rs17790731-A	0.034	2E-7		0.531	[NR] unit decrease	Affymetrix [686595]	N
1310	chr5	95036699	95036700	rs153916	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	5q15	SPATA9	rs153916-T	0.55	2E-8	(FEV1/FVC)	0.031	[0.021-0.041] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1311	chr5	95234790	95234791	rs3777200	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	5q15	ELL2	rs3777200-T	0.27	1E-8		0.0204	[0.013-0.027] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1311	chr5	95241221	95241222	rs10069748	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q15	NR	rs10069748-C	0.274419212661614	5E-6	(IGP61)	0.1539	[0.088-0.22] unit decrease	Illumina [~ 2500000] (imputed)	N
1311	chr5	95242930	95242931	rs56219066	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	5q15	ELL2	rs56219066-T	0.711	2E-10		1.24	[1.16-1.33]	Illumina [12100000] (imputed)	N
1311	chr5	95242930	95242931	rs56219066	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	5q15	ELL2	rs56219066-T	0.711	1E-9		1.25	[1.16-1.34]	Illumina [12100000] (imputed)	N
1311	chr5	95246759	95246760	rs3777193	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q15	NR	rs3777193-G	0.71211365048976	4E-6	(IGP65)	0.1592	[0.092-0.227] unit increase	Illumina [~ 2500000] (imputed)	N
1311	chr5	95262512	95262513	rs11738945	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q15	NR	rs11738945-C	0.785892907349666	1E-6	(IGP32)	0.1818	[0.11-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
1311	chr5	95273409	95273410	rs7700895	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q15	NR	rs7700895-T	0.783746748105216	1E-6	(IGP35)	0.1776	[0.11-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
1312	chr5	95301462	95301463	rs918629	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q15	NR	rs918629-G	0.745524385574354	1E-6	(IGP15)	0.1737	[0.1-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
1313	chr5	95425756	95425757	rs142324060	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (age at onset)	5,148 European ancestry users	NA	5q15	NR	rs142324060-G		8E-8		0.68	[0.46-0.9] unit increase	NR [5896100] (imputed)	N
1313	chr5	95428683	95428684	rs7734985	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q15	NR	rs7734985-G	0.336041271783296	2E-6	(IGP19)	0.1571	[0.093-0.221] unit decrease	Illumina [~ 2500000] (imputed)	N
1313	chr5	95486939	95486940	rs4869266	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q15	NR	rs4869266-G	0.664911823953174	3E-6	(IGP16)	0.1519	[0.088-0.216] unit increase	Illumina [~ 2500000] (imputed)	N
1313	chr5	95506085	95506086	rs12519062	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q15	NR	rs12519062-C	NR	5E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1313	chr5	95542725	95542726	rs13179048	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	5q15	PCSK1	rs13179048-?		2E-10				Affymetrix, Illumina [~ 2400000] (imputed)	N
1315	chr5	95716721	95716722	rs7713317	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q15	PCSK1	rs7713317-G	0.29	6E-7	(EA)	0.017	[0.01-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1315	chr5	95716721	95716722	rs7713317	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q15	PCSK1	rs7713317-G	0.29	3E-7		0.017	[0.01-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1315	chr5	95728897	95728898	rs6235	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	5q15	PCSK1	rs6235-G	0.272	5E-15	(FPG)	0.0056	[NR] unit decrease	Illumina [up to 945994] (imputed)	N
1315	chr5	95728897	95728898	rs6235	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	5q15	PCSK1	rs6235-G	0.28	1E-26				Affymetrix, Illumina [~ 2500000] (imputed)	N
1316	chr5	95845853	95845854	rs17086188	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	5q15	PCSK1	rs17086188-A	0.94	4E-8		0.07	[0.045-0.095] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1316	chr5	95850249	95850250	rs261967	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	5q15	PCSK1	rs261967-C	0.41	8E-13		0.0376	[0.027-0.048] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1316	chr5	95850249	95850250	rs261967	22344219	Wen W	2012-02-19	Nat Genet	Meta-analysis identifies common variants associated with body mass index in east Asians.	Body mass index	22,762 East Asian ancestry individuals, 2,522 Malay ancestry individuals, 2,431 Chinese, Malay and Asian Indian ancestry individuals	53,215 East Asian ancestry results, 2,118 Malay ancestry individuals	5q15	PCSK1	rs261967-C	0.41	5E-9		3.77	[2.26-5.28] % increase	Affymetrix, Illumina [2474474] (imputed)	N
1316	chr5	95856678	95856679	rs2570467	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist circumference	Up to 23,564 African American individuals	Up to 10,027 African American individuals	5q15	PCSK1	rs2570467-A	0.86	1E-6	(men)	0.1	[0.061-0.139] unit decrease	Affymetrix, Illumina [3200000] (imputed)	N
1318	chr5	96101943	96101944	rs27524	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	5q15	ERAP1	rs27524-A	NR	2E-8		1.195	[1.157-1.234]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1318	chr5	96101943	96101944	rs27524	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	5q15	ERAP1	rs27524-?	NR	7E-6	(Total cHL)	1.22	[1.11-1.33]	Illumina [502514]	N
1318	chr5	96101943	96101944	rs27524	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	5q15	ERAP1	rs27524-A	0.36	3E-11		1.13	[1.05-1.22]	Illumina [535475]	N
1318	chr5	96111370	96111371	rs13160562	19581569	Treutlein J	2009-07-01	Arch Gen Psychiatry	Genome-wide association study of alcohol dependence.	Alcohol dependence	476 European ancestry cases, 1,358 European ancestry controls	1,024 European ancestry cases, 996 European ancestry controls	5q15	CAST, ERAP1	rs13160562-G	0.68	7E-6		1.27	[1.14-1.41]	Illumina [524396]	N
1318	chr5	96118865	96118866	rs17482078	23291587	Kirino Y	2013-01-06	Nat Genet	Genome-wide association analysis identifies new susceptibility loci for Beh&#x000e7;et's disease and epistasis between HLA-B*51 and ERAP1.	Behcet's disease	435 Turkish uveitis cases, 780 Turkish without uveitis cases, 1,278 Turkish controls	355 Turkish uveitis cases, 483 Turkish without uveitis cases, 601 Turkish controls, up to 612 Japanese ancestry cases, up to 740 Japanese ancestry controls	5q15	ERAP1	rs17482078-T	0.02	5E-11	(Turkish cases with Uveitis - Recessive Model)	4.56	[2.88-7.22]	Illumina [779465] (imputed)	N
1318	chr5	96118865	96118866	rs17482078	23291587	Kirino Y	2013-01-06	Nat Genet	Genome-wide association analysis identifies new susceptibility loci for Beh&#x000e7;et's disease and epistasis between HLA-B*51 and ERAP1.	Behcet's disease	435 Turkish uveitis cases, 780 Turkish without uveitis cases, 1,278 Turkish controls	355 Turkish uveitis cases, 483 Turkish without uveitis cases, 601 Turkish controls, up to 612 Japanese ancestry cases, up to 740 Japanese ancestry controls	5q15	ERAP1	rs17482078-T	0.02	4E-8	(All Turkish cases - Recessive Model)	3.08	[2.04-4.65]	Illumina [779465] (imputed)	N
1318	chr5	96120169	96120170	rs39841	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q15	ERAP1	rs39841-?	NR	1E-9	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1318	chr5	96124329	96124330	rs30187	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	5q15	ERAP1	rs30187-T	0.33	2E-27				Illumina [2223620] (imputed)	N
1318	chr5	96129511	96129512	rs27434	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	5q15	ERAP1	rs27434-A	0.23	5E-12		1.19	[1.10-1.30]	Illumina [288662]	N
1318	chr5	96129872	96129872	rs202110856	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	5q15	ERAP1	rs202110856-?	0.99	7E-8		1.51	[1.23-1.86]	Affymetrix, Illumina [~ 10000000] (imputed)	N
1318	chr5	96186987	96186988	rs2911132	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	5q15	ERAP1, ERAP2	rs2911132-G	0.62	2E-6	(Men)	0.013958143	[0.0082-0.0197] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1319	chr5	96244548	96244549	rs2549794	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	5q15	ERAP2, LRAP	rs2549794-C	0.409	1E-10		1.05	[1.02-1.09]	Affymetrix, Illumina [953241] (imputed)	N
1319	chr5	96252802	96252803	rs1363907	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q15	NR	rs1363907-A	0.4212	4E-6	(EA)	1.0618593	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1319	chr5	96252802	96252803	rs1363907	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q15	NR	rs1363907-A	0.4212	5E-15	(EA)	1.084916	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1319	chr5	96252802	96252803	rs1363907	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q15	NR	rs1363907-A	0.4212	4E-16	(EA)	1.10802	[1.08-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1319	chr5	96252802	96252803	rs1363907	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	5q15	ERAP2, LNPEP, ERAP1	rs1363907-A	0.411	6E-13		1.068	[1.037-1.099]	Affymetrix, Illumina [1230000] (imputed)	N
1319	chr5	96290646	96290647	rs7705093	24957906	Kuiper JJ	2014-06-22	Hum Mol Genet	A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.	Birdshot chorioretinopathy	117 European ancestry cases, 693 European ancestry  controls	30 European ancestry cases, 2,793 European ancestry controls	5q15	ERAP2, LNPEP, ERAP1	rs7705093-T	0.442	2E-9		2.2	[1.70-2.90]	Illumina [9932851] (imputed)	N
1324	chr5	96949072	96949073	rs55988457	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q15	NR	rs55988457-?	NR	6E-8				Affymetrix [5486770] (imputed)	N
1325	chr5	97076547	97076548	rs10515260	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	5q15	NR	rs10515260-?	0.035	6E-7		1.913	[1.485-2.463] unit increase	Illumina [563945]	N
1331	chr5	97888735	97888736	rs4703129	21182207	Salyakina D	2010-12-01	Autism Res	Variants in several genomic regions associated with asperger disorder.	Asperger disorder	848 individuals from 232 families	NA	5q15	RGMB	rs4703129-?	0.41	1E-6				Illumina [439282] (imputed)	N
1332	chr5	97929965	97929966	rs461409	24236485	Cornejo-Garcia JA	2013-11-01	Pharmacogenomics	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	112 European ancestry cases, 124 European ancestry controls, 120 Han Chinese ancestry cases, 101 Han Chinese ancestry controls	NA	5q15	RGMB, AKAP9	rs461409-?	NR	3E-6	(EA)			Affymetrix [up to 644046]	N
1334	chr5	98275196	98275197	rs150992	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q21.1	LOC100289230	rs150992-A	0.723	5E-7	(EA)	0.017	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1334	chr5	98275196	98275197	rs150992	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q21.1	LOC100289230	rs150992-A	0.721	7E-7		0.017	[0.01-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1337	chr5	98579963	98579964	rs17736767	22044751	Foster MC	2011-11-01	BMC Med Genet	Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.	Renal sinus fat	2,809 European ancestry individuals	NA	5q21.1	CHD1	rs17736767-G	0.27	7E-6		0.208	[0.12-0.30] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1337	chr5	98593452	98593453	rs1500251	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	5q21.1	CHD1	rs1500251-A	0.2	9E-6	(Age 20-81 years)	0.0545	[0.031-0.078] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1338	chr5	98715767	98715768	rs11745890	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q21.1	NR	rs11745890-C	0.0301678793134195	4E-6	(IGP38)	0.5502	[0.32-0.78] unit increase	Illumina [~ 2500000] (imputed)	N
1338	chr5	98781102	98781103	rs1829883	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	5q21.1	intergenic	rs1829883-?	0.41	6E-6	(MCH)			Affymetrix [70897]	N
1339	chr5	98880298	98880299	rs17167021	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Large artery stroke	2,167 cases, 49,159 controls	NA	5q21.1	intergenic	rs17167021-G		1E-7		1.81	[1.42-2.30]	Affymetrix, Illumina [~ 2400000] (imputed)	N
1342	chr5	99342046	99342047	rs10067427	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	5q21.1	intergenic	rs10067427-G	0.30	5E-6		0.75	[NR] unit increase	Illumina [324623]	N
1347	chr5	99991647	99991648	rs4702982	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	5q21.1	intergenic	rs4702982-?	0.16	6E-6				Affymetrix [253903]	N
1350	chr5	100301805	100301806	rs17161553	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q21.1	NR	rs17161553-C	0.00759786255756579	1E-6	(IGP26)	1.6947	[1.01-2.38] unit increase	Illumina [~ 2500000] (imputed)	N
1350	chr5	100301805	100301806	rs17161553	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q21.1	NR	rs17161553-C	0.00759162019720625	6E-6	(IGP17)	1.5958	[0.9-2.29] unit increase	Illumina [~ 2500000] (imputed)	N
1350	chr5	100379392	100379393	rs575018	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	5q21.1	ST8SIA4	rs575018-?	0.34	7E-7	(Breast cancer, overall toxicity, univariable analysis)	0.13	[NR] unit decrease	Illumina [2417493] (imputed)	N
1353	chr5	100701599	100701600	rs12153327	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	5q21.1	intergenic	rs12153327-C		2E-6	(EA, factor score analysis)	0.064	[NR] unit decrease	Affymetrix [up to 730090]	N
1355	chr5	100948544	100948545	rs13188771	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	5q21.1	intergenic	rs13188771-A	0.17	2E-6	(int, MW)	4.24	[NR] unit decrease	Perlegen [429901]	N
1358	chr5	101403585	101403586	rs6861497	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QRS duration	455 African American individuals	NA	5q21.1	intergenic	rs6861497-A		5E-6		2.34	[NR] ms increase	Illumina [> 930000]	N
1361	chr5	101726769	101726770	rs10073892	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	5q21.1	SLCO6A1	rs10073892-?	NR	7E-7	(EA)	0.0126	[0.007616-0.01751] unit increase	Illumina [1530316]	N
1361	chr5	101769725	101769726	rs6878284	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q21.1	NR	rs6878284-C	NR	2E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1361	chr5	101769725	101769726	rs6878284	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	5q21.1	SLCO6A1	rs6878284-C	0.363	9E-9		1.09	[1.06-1.12]	Affymetrix, Illumina [9871789]	N
1362	chr5	101859316	101859317	rs1502844	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	5q21.1	SLCO6A1	rs1502844-C	NR	1E-6		1.09	[NR]	Illumina [314868]	N
1362	chr5	101946797	101946798	rs7705924	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	5q21.1	SLCO6A1	rs7705924-G	0.066	2E-8		1.48	[1.17-1.87]	Affymetrix, Illumina [1060934] (imputed)	N
1367	chr5	102596719	102596720	rs26232	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	5q21.1	C5orf30	rs26232-C	0.68	4E-8		1.14	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1367	chr5	102608923	102608924	rs2561477	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	5q21.1	C5orf30	rs2561477-G	0.69	1E-10		1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1367	chr5	102608923	102608924	rs2561477	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	5q21.1	C5orf30	rs2561477-G	0.68	2E-11	(EA)	1.11	[1.08-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1368	chr5	102725094	102725095	rs9327881	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	5q21.1	NUDT12	rs9327881-?	0.86	5E-9				Illumina [859311]	N
1368	chr5	102759657	102759658	rs17155315	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	5q21.2	NR	rs17155315-G	0.63	7E-6		4.73	[2.69-6.77] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1369	chr5	102764047	102764048	rs2099077	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	5q21.2	NUDT12	rs2099077-A	0.29	8E-6	(AA-triglyceride response)	16.53	[9.26-23.8] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1370	chr5	102921165	102921166	rs294039	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	5q21.2	NUDT12	rs294039-?	NR	5E-6			[NR]	Illumina [283437]	N
1370	chr5	102925838	102925839	rs11242496	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	5q21.2	NUDT12	rs11242496-A	0.3	2E-6		0.043	unit increase	Illumina [~ 6300000] (imputed)	N
1378	chr5	104069916	104069917	rs161645	23290196	Hek K	2013-01-02	Biol Psychiatry	A genome-wide association study of depressive symptoms.	Depression (quantitative trait)	up to 34,549 European ancestry individuals	up to 16,709 European ancestry individuals	5q21.2	NUDT12	rs161645-A	0.34	8E-8				Affymetrix, Illumina [2391896] (imputed)	N
1379	chr5	104199059	104199060	rs1632744	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)	106 Japanese ancestry cases, 187 Japanese ancestry controls	NA	5q21.2	RAB9P1	rs1632744-T	0.258	5E-6	(Recessive model)	1.387	[0.959-2.007]	Illumina [733202]	N
1380	chr5	104208012	104208013	rs10074959	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)	106 Japanese ancestry cases, 187 Japanese ancestry controls	NA	5q21.2	RAB9P1	rs10074959-T	0.237	1E-6	(Recessive model)	1.524	[1.048-2.217]	Illumina [733202]	N
1381	chr5	104347648	104347649	rs13178964	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	5q21.2	RAB9BP1	rs13178964-G	0.05	5E-7	(SBP, during intervention)	3.42	[2.09-4.75] mmHg decrease	Affymetrix [2216774] (imputed)	N
1382	chr5	104467114	104467115	rs7733624	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5q21.3	RAB9P1, LOC345571	rs7733624-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1385	chr5	104867935	104867936	rs7447447	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	5q21.3	NR	rs7447447-T	0.13	7E-6		0.1521	[0.08-0.22] mg/day increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1385	chr5	104954327	104954328	rs10479334	21368711	Alliey-Rodriguez N	2011-03-02	Psychiatr Genet	Genome-wide association study of personality traits in bipolar patients.	Personality traits in bipolar disorder	1,951 European ancestry cases	NA	5q21.3	intergenic	rs10479334-?	0.078	2E-9	(TCI-C1)			Affymetrix [702866]	N
1388	chr5	105297528	105297529	rs13189969	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q21.3	LOC345571	rs13189969-A	0.265	8E-6	(Fat mass )	0.03	[NR] kg increase	Illumina [899892]	N
1389	chr5	105419512	105419513	rs6894797	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q21.3	LOC345571	rs6894797-G	0.047	9E-6	(Hip circumference change )	0.03	[NR] cm/y increase	Illumina [899892]	N
1391	chr5	105745615	105745616	rs111346824	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5q21.3	NR	rs111346824-?	NR	3E-6	(Latino)	0.8801	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1399	chr5	106724587	106724588	rs252817	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5q21.3	NR	rs252817-?	NR	2E-6		1.2431	[NR]	Affymetrix [722112]	N
1401	chr5	106982559	106982560	rs10074258	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	5q21.3	EFNA5	rs10074258-?	NR	2E-7				Illumina [516645]	N
1402	chr5	107111175	107111176	rs1422438	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	5q21.3	EFNA5	rs1422438-G	0.30	6E-7	(Cortical Ab)			Illumina [6108668] (imputed)	N
1403	chr5	107281620	107281621	rs10070308	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	5q21.3	FBXL17	rs10070308-?	NR	4E-6				NR [up to 8466825] (imputed)	N
1403	chr5	107282347	107282348	rs72795979	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	5q21.3	NR	rs72795979-?	NR	3E-6				NR [up to 8466825] (imputed)	N
1403	chr5	107282348	107282349	rs72795980	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	5q21.3	NR	rs72795980-?	NR	2E-6				NR [up to 8466825] (imputed)	N
1404	chr5	107397214	107397215	rs7729356	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	5q21.3	intergenic	rs7729356-A	0.341	4E-6		0.021	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1404	chr5	107400504	107400505	rs288139	23118974	Candille SI	2012-10-31	PLoS One	Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.	Eye color	175 European ancestry individuals	293 European ancestry individuals	5q21.3	FBXL17	rs288139-A	0.21	1E-6	(Eye color)	0.206	[0.12-0.29] unit increase	Illumina [313763]	N
1404	chr5	107401450	107401451	rs11242661	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	5q21.3	FBXL17	rs11242661-?	NR	1E-6	(SF9)			Affymetrix [5476100] (imputed)	N
1404	chr5	107419547	107419548	rs288232	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q21.3	FBXL17	rs288232-C	0.827	4E-6	(EA)	0.023	[0.013-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1404	chr5	107419547	107419548	rs288232	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q21.3	FBXL17	rs288232-C	0.827	3E-6		0.023	[0.013-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1406	chr5	107731957	107731958	rs1001579	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q21.3	NR	rs1001579-G	0.167464012461059	7E-6	(IGP43)	0.182	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1407	chr5	107834246	107834247	rs4571457	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	5q21.3	intergenic	rs4571457-G	NR	7E-6	(Analysis II)			Illumina [313720]	N
1408	chr5	107915735	107915736	rs10447248	21700879	Qi L	2011-06-23	Diabetes	Novel locus FER is associated with serum HMW adiponectin levels.	Adiponectin levels	1,591 European ancestry female individuals	626 European ancestry individuals from 235 families	5q21.3	FER	rs10447248-A	0.34	5E-8				Affymetrix [2543887] (imputed)	N
1408	chr5	107981746	107981747	rs12656502	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-42)	3,528 European ancestry individuals	NA	5q21.3	intergenic	rs12656502-A	0.228	3E-6		0.08	[0.041-0.119] unit increase	Illumina [2316178] (imputed)	N
1409	chr5	108113343	108113344	rs13177718	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q21.3	FER	rs13177718-T	0.075	3E-13		0.043	[0.031-0.055] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1409	chr5	108113343	108113344	rs13177718	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q21.3	FER	rs13177718-T	0.07	3E-8		0.04	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1411	chr5	108288902	108288903	rs78392994	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q21.3	NR	rs78392994-T	NR	5E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
1412	chr5	108402139	108402140	rs4957796	25533491	Rautanen A	2014-12-18	Lancet Respir Med	Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study.	Sepsis from pneumonia (survival)	359 European ancestry non-survivor cases, 1,194 European ancestry survivor cases	106 European ancestry non-survivor cases, 432 European ancestry survivor cases	5q21.3	FER	rs4957796-?	NR	6E-8		1.79	[1.45-2.22]	Affymetrix, Illumina [5888277] (imputed)	N
1413	chr5	108541222	108541223	rs6594357	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	5q21.3	NR	rs6594357-T	NR	8E-7	(phenotype 2)	3.33	[NR]	Illumina [> 8000000] (imputed)	N
1416	chr5	108948936	108948937	rs367615	23300701	Jiao S	2012-12-26	PLoS One	Genome-wide search for gene-gene interactions in colorectal cancer.	Colorectal cancer	8,380 European ancestry cases, 10,558 European ancestry controls	2,527 European ancestry cases, 2,628 European ancestry controls	5q21.3	intergenic	rs367615-?	0.73	4E-8	(rs10795668)	1.35	[1.20-1.49]	Illumina [2011668]	N
1416	chr5	109016625	109016626	rs17450784	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	5q21.3	MAN2A1	rs17450784-?	NR	3E-6		5.089	[3.04-7.14] unit decrease	Illumina [498648]	N
1416	chr5	109016625	109016626	rs17450784	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	5q21.3	MAN2A1	rs17450784-?	NR	5E-7		15.17	[9.55-20.79] unit decrease	Illumina [498648]	N
1416	chr5	109036065	109036066	rs4388249	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q21.3	NR	rs4388249-T	NR	2E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
1416	chr5	109036065	109036066	rs4388249	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	5q21.3	MAN2A1	rs4388249-T	0.213	3E-8		1.076	[1.048-1.104]	Affymetrix, Illumina [9005918] (imputed)	N
1416	chr5	109044066	109044067	rs6877440	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	5q21.3	MAN2A1	rs6877440-?	NR	7E-8		3.63	[2.39-4.87] unit decrease	Illumina [498648]	N
1418	chr5	109221025	109221026	rs112724034	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		5q21.3	PGAM5P1, MAN2A1	rs112724034-?	0.03	9E-13		0.31	unit decrease	Illumina [NR] (imputed)	N
1420	chr5	109496959	109496960	rs4460176	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	5q21.3	intergenic	rs4460176-?	0.29	3E-6	(PAI-1)			Affymetrix [70897]	N
1424	chr5	110008213	110008214	rs17132261	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Cardiac structure and function	12,612 European ancestry individuals	4,094 European ancestry individuals	5q22.1	SLC25A46	rs17132261-T	0.02	9E-7	(LV wall thickness)	0.06	[0.04-0.08] cm increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1425	chr5	110146445	110146446	rs17513503	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	5q22.1	TMEM232, SLCA25A46	rs17513503-G	0.09	1E-8		1.39	[1.24-1.56]	Affymetrix, Illumina [2217510] (imputed)	N
1425	chr5	110146445	110146446	rs17513503	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	Allergic rhinitis	3,933 European ancestry cases, 8,965 European ancestry controls	NA	5q22.1	TMEM232, SLCA25A46	rs17513503-G	0.09	7E-7		1.28	[1.16-1.41]	Affymetrix, Illumina [2217510] (imputed)	N
1425	chr5	110154308	110154309	rs3853750	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	5q22.1	SLC25A46	rs3853750-C		2E-7		1.1533	[1.1-1.21]	Illumina [up to 4972397] (imputed)	N
1425	chr5	110190051	110190052	rs10056340	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	5q22.1	TSLP, SLC25A46, WDR36, CAMK4	rs10056340-G	0.17	5E-14		1.2	[1.15-1.28]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1427	chr5	110401871	110401872	rs1837253	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	5q22.1	TSLP	rs1837253-C	0.71	1E-9		1.17	[1.12-1.24]	Illumina [up to 4972397] (imputed)	N
1427	chr5	110401871	110401872	rs1837253	21804549	Torgerson DG	2011-07-31	Nat Genet	Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.	Asthma	2,088 European ancestry cases, 1,612 African American and African Caribbean cases, 1,688 Hispanic cases	2,727 European ancestry cases, 2,147 African American and African Caribbean cases, 2,299 Hispanic cases	5q22.1	TSLP	rs1837253-?	NR	1E-14				Affymetrix, Illumina [> 2000000] (imputed)	N
1427	chr5	110401871	110401872	rs1837253	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	5q22.1	TSLP	rs1837253-C	0.35	1E-16		1.17	[1.13-1.22]	Illumina [458847]	N
1427	chr5	110405674	110405675	rs3806932	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	5q22.1	WDR36	rs3806932-?	0.54	3E-9		1.85	[NR]	Illumina [~ 550000]	N
1427	chr5	110406741	110406742	rs3806933	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	5q22.1	TSLP	rs3806933-G	0.56	2E-8		1.37	[NR]	Illumina [1468075]	N
1427	chr5	110408001	110408002	rs1898671	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	Allergic rhinitis	3,933 European ancestry cases, 8,965 European ancestry controls	NA	5q22.1	TSLP	rs1898671-T	0.35	5E-6		1.15	[1.08-1.22]	Affymetrix, Illumina [2217510] (imputed)	N
1427	chr5	110425062	110425063	rs252716	25407941	Sleiman PM	2014-11-19	Nat Commun	GWAS identifies four novel eosinophilic esophagitis loci.	Eosinophilic esophagitis	603 European ancestry cases, 3,637 European ancestry controls	333 European ancestry cases, 675 European ancestry controls	5q22.1	TSLP	rs252716-C	0.447	4E-14		1.516	[1.41-1.62]	Illumina [~ 2300000] (imputed)	N
1427	chr5	110435489	110435490	rs2416257	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	5q22.1	TSLP, WDR36	rs2416257-G	0.85	1E-6	(EA)	6.1	[3.7-8.6] % standard unit increase	Illumina [312179]	N
1427	chr5	110467498	110467499	rs1438673	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	5q22.1	WDR36	rs1438673-C	0.49	3E-11		1.16	[1.11-1.21]	Illumina [up to 4972397] (imputed)	N
1427	chr5	110467498	110467499	rs1438673	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	5q22.1	TSLP, WDR36, CAMK4	rs1438673-C	0.4951	2E-20		0.1104	[0.087-0.134] unit increase	Illumina [2400000] (imputed)	N
1428	chr5	110502428	110502429	rs17132883	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	5q22.1	WDR36	rs17132883-T	0.04	2E-6	(Age 20-60 years)	2.19	[1.59-3.01]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1428	chr5	110539391	110539392	rs1370967	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	5q22.1	CAMK4	rs1370967-A	0.04	8E-7	(Age 20-60 years)	2.21	[1.61-3.02]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1428	chr5	110596491	110596492	rs11742977	25226531	St Pourcain B	2014-09-16	Nat Commun	Common variation near ROBO2 is associated with expressive vocabulary in infancy.	Expressive vocabulary in infants	6,851 European ancestry 15-18-month-old children, 6,299 European ancestry 24-30-month-old children	2,038 European ancestry 15-18-month-old children, 4,520 European ancestry 24-30-month-old children	5q22.1	NR	rs11742977-C	0.59	4E-6	(24-30 months)	0.065	[0.038-0.092] unit increase	Illumina [2449665] (imputed)	N
1429	chr5	110719186	110719187	rs77636885	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		5q22.1	CAMK4	rs77636885-?	0.03	2E-6		0.3	unit decrease	Illumina [NR] (imputed)	N
1430	chr5	110772403	110772404	rs10491334	21612516	Malovini A	2011-05-25	Rejuvenation Res	Association study on long-living individuals from Southern Italy identifies rs10491334 in the CAMKIV gene that regulates survival proteins.	Longevity	410 European ancestry long-living individuals, 553 European ancestry young individuals	116 European ancestry long-living individuals, 160 European ancestry young individuals	5q22.1	CAMKIV	rs10491334-C	0.82	2E-6		1.82	[1.43-2.33]	Illumina [298715]	N
1430	chr5	110772403	110772404	rs10491334	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Blood pressure	Up to 1,327 individuals	NA	5q22.1	CAMK4	rs10491334-?	NR	4E-6	(DBP)			Affymetrix [70897]	N
1430	chr5	110859796	110859797	rs251130	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	5q22.1	STARD4	rs251130-G	0.73	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1431	chr5	110958781	110958782	rs11241130	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q22.1	NREP	rs11241130-G	0.129	8E-6	(Sleep duration )	0.04	[NR] min/d increase	Illumina [899892]	N
1432	chr5	111071624	111071625	rs7720886	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5q22.1	C5orf13, STARD4, C5orf26	rs7720886-G	0.075	2E-6		2.87	[1.83-4.5]	Illumina [1556551]	N
1432	chr5	111107114	111107115	rs173896	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5q22.1	NR	rs173896-?	NR	7E-6		1.4282	[NR]	Affymetrix [722112]	N
1436	chr5	111602712	111602713	rs13358904	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide ideation score in major depressive disorder	358 European ancestry individuals	NA	5q22.2	EPB41L4A	rs13358904-G	0.21	5E-6		3.049	Suicidal ideation score increase	Illumina [794207]	N
1437	chr5	111693370	111693371	rs379440	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	5q22.2	EPB41L4A	rs379440-G	0.04	1E-6	(vWF levels)	0.34	[0.20-0.48] IU/dL increase	Illumina [442728]	N
1441	chr5	112242967	112242968	rs469727	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	5q22.2	REEP5	rs469727-?	NR	8E-6				Affymetrix [504219]	N
1442	chr5	112455466	112455467	rs4078252	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	5q22.2	NR	rs4078252-?		2E-7				Affymetrix, Illumina [1348798]	N
1443	chr5	112580289	112580290	rs17323670	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5q22.2	NR	rs17323670-?	NR	7E-6		1.7476	[NR]	Affymetrix [722112]	N
1444	chr5	112680336	112680337	rs1116547	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Cerebral amyloid angiopathy	1,673 cases, 1,134 controls	NA	5q22.2	MCC	rs1116547-T	0.1269	7E-6		0.396	[0.22-0.57] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1444	chr5	112715373	112715374	rs6594713	20308991	Kim S	2010-03-23	Mol Psychiatry	Integrative genome-wide association analysis of cytoarchitectural abnormalities in the prefrontal cortex of psychiatric disorders.	Brain cytoarchitecture	14 European ancestry bipolar cases, 15 European ancestry depression cases, 13 European ancestry schizophrenia cases, 14 European ancestry controls	NA	5q22.2	MCC	rs6594713-?	0.21	2E-6				Affymetrix [309531]	N
1445	chr5	112723566	112723567	rs1318772	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	5q22.2	TSSK1	rs1318772-G	0.33	1E-6		0.91	[0.54-1.28] unit decrease	Illumina [660740]	N
1447	chr5	112996653	112996654	rs17135859	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	5q22.2	YTHDC2	rs17135859-C	0.19	8E-6		0.97	[0.54-1.40] unit increase	Illumina [660740]	N
1447	chr5	113030163	113030164	rs4621553	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	5q22.2	intergenic	rs4621553-?	0.22	4E-8	(Recessive)	1.4	[1.24-1.58]	Affymetrix [319222]	N
1450	chr5	113395480	113395481	rs11241261	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	5q22.3	intergenic	rs11241261-T	0.1491	2E-6		0.5443	[0.32-0.77] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1453	chr5	113798985	113798986	rs17136627	23677057	Kim JJ	2013-05-16	J Hum Genet	Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis.	Coronary arterial lesions in patients with Kawasaki disease	17 Korean ancestry cases, 123 Korean ancestry controls	32 Korean ancestry cases, 191 Korean ancestry controls	5q22.3	KCNN2	rs17136627-A	0.008	2E-8		12.6	[4.13-38.5]	Affymetrix [652397]	N
1453	chr5	113849293	113849294	rs400028	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q22.3	KCNN2	rs400028-G	0.138	5E-6	(Adiponectin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1453	chr5	113852049	113852050	rs10519388	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	5q22.3	intergenic	rs10519388-T	0.835	5E-7		0.029	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1456	chr5	114242490	114242491	rs142034933	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5q22.3	NR	rs142034933-?	NR	5E-10	(AA)	1.3274	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1456	chr5	114268469	114268470	rs55670112	25087078	Anney RJ	2014-07-30	Lancet Neurol	Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.	Epilepsy	405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls	NA	5q22.3	intergenic	rs55670112-C	0.47	6E-8	(GGE)	1.18	[1.10-1.26]	Affymetrix, Illumina [NR] (imputed)	N
1463	chr5	115120433	115120434	rs6862909	25411281	Dashti HS	2014-10-08	Am J Clin Nutr	Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations.	Circulating phylloquinone levels	2,138 European ancestry individuals	NA	5q22.3	CDO1	rs6862909-T	0.01	1E-7	(Model 2)	0.96	[0.61-1.31] unit decrease	Affymetrix, Illumina [2543887] (imputed)	N
1463	chr5	115138747	115138748	rs13174348	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q22.3	NR	rs13174348-G	0.784686077436582	3E-6	(IGP54)	0.1823	[0.11-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1463	chr5	115138747	115138748	rs13174348	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q22.3	NR	rs13174348-G	0.784686077436582	3E-6	(IGP14)	0.1823	[0.11-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1464	chr5	115296944	115296945	rs12516208	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	5q23.1	FLJ90650	rs12516208-C	NR	4E-6		4.598	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1464	chr5	115321818	115321819	rs1366200	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	5q23.1	AQPEP	rs1366200-G	0.312	1E-6	(EA, less than 25 years)	1.308	[1.174-1,457]	Affymetrix, Illumina [NR] (imputed)	N
1466	chr5	115512351	115512352	rs1396485	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	5q23.1	COMMD10	rs1396485-?	NR	7E-7	(MCP1-TNF-a pattern prefenofibrate)			Affymetrix [2543887] (imputed)	N
1466	chr5	115540572	115540573	rs7709377	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	5q23.1	COMMD10	rs7709377-A		4E-6		0.04	[0.02-0.06] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1466	chr5	115568756	115568757	rs253959	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	5q23.1	COMMD10	rs253959-T	NR	8E-6		1.21	[NR]	Affymetrix [745006]	N
1466	chr5	115597047	115597048	rs10043228	24993907	Smolonska J	2014-07-03	Eur Respir J	Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.	Asthma or chronic obstructive pulmonary disease	920 European ancestry Asthma cases, 1,030 European ancestry Chronic obstructive pulmonary disease cases, 4,585 European ancestry controls	461 European ancestry Asthma cases, 118 European ancestry Chronic obstructive pulmonary disease cases, 656 European ancestry controls, 720 European, African American and Hispanic Asthma cases, 1,019 European, African American and Hispanic Chronic obstructive pulmonary disease cases, 19,173 European, African American and Hispanic controls, 1,106 Asthma cases, 1,806 Chronic obstructive pulmonary disease cases, 18,580 controls	5q23.1	COMMD10	rs10043228-T		4E-6		1.32	[NR]	Illumina [1811026]	N
1467	chr5	115727837	115727838	rs7702057	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	5q23.1	SEMA6A	rs7702057-A	0.03	8E-6	(site of onset)	2.05	[NR]	Illumina [288357]	N
1467	chr5	115733804	115733805	rs7734156	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q23.1	NR	rs7734156-C	0.0499571860008917	7E-6	(IGP30)	0.3437	[0.19-0.49] unit decrease	Illumina [~ 2500000] (imputed)	N
1468	chr5	115759489	115759490	rs26595	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	528 European ancestry cases, 1,228 European ancestry controls	5q23.1	SEMA6A	rs26595-T	0.56	2E-8		1.35	[1.22-1.49]	Illumina [287802]	N
1469	chr5	115975655	115975656	rs6898653	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	Allergic rhinitis	3,933 European ancestry cases, 8,965 European ancestry controls	NA	5q23.1	SEMA6A	rs6898653-G	0.22	1E-6		1.23	[1.13-1.34]	Affymetrix, Illumina [2217510] (imputed)	N
1471	chr5	116181427	116181428	rs2055376	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	5q23.1	SEMA6A	rs2055376-A	0.02	7E-8		2.3	[NR]	Illumina [1468075]	N
1473	chr5	116492832	116492833	rs76314368	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5q23.1	intergenic	rs76314368-A	0.022	3E-7		4.67	[2.46-8.88]	Illumina [1556551]	N
1473	chr5	116513604	116513605	rs12153048	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	5q23.1	SEMA6A	rs12153048-G	0.06	2E-6	(Age 20-81 years)	0.3396	[0.20-0.48] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1473	chr5	116513604	116513605	rs12153048	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	5q23.1	SEMA6A	rs12153048-G	0.05	6E-6	(Age 20-60 years)	0.3459	[0.20-0.49] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1474	chr5	116537249	116537250	rs7712671	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q23.1	NR	rs7712671-G	NR	1E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1475	chr5	116703029	116703030	rs10070219	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q23.1	NR	rs10070219-?	NR	7E-6	(EA)	0.3481	[0.2-0.5] unit decrease	Illumina [up to 11892802] (imputed)	N
1476	chr5	116875362	116875363	rs956882	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	5q23.1	LOC728342	rs956882-?	NR	3E-6		2.952	[1.87-4.03] unit decrease	Illumina [498648]	N
1480	chr5	117337752	117337753	rs13166814	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q23.1	DTWD2	rs13166814-A	0.16	5E-7	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1485	chr5	117983611	117983612	rs2972219	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	5q23.1	LOC100287135	rs2972219-?		2E-6				Illumina [859311]	N
1485	chr5	118009471	118009472	rs2376682	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5q23.1	LOC100130968, DTWD2	rs2376682-G	0.235	3E-6		0.0		Illumina [1556551]	N
1487	chr5	118356414	118356415	rs111649495	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	5q23.1	intergenic	rs111649495-?	NR	2E-6	(SF4)			Affymetrix [5476100] (imputed)	N
1488	chr5	118435126	118435127	rs116348108	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		5q23.1	DMXL1	rs116348108-?	0.04	9E-7		0.28	unit decrease	Illumina [NR] (imputed)	N
1490	chr5	118641299	118641300	rs1032859	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	5q23.1	TNFAIP8	rs1032859-A	0.86	6E-6	(Left HG area)	15.54	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
1490	chr5	118729285	118729286	rs1045241	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q23.1	TNFAIP8, HSD17B4	rs1045241-C	0.7141	7E-12	(EA, women)	0.0345	[0.025-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1490	chr5	118729285	118729286	rs1045241	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q23.1	TNFAIP8, HSD17B4	rs1045241-C	0.7114	4E-7	(EA)	0.0189	[0.012-0.026] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1490	chr5	118729285	118729286	rs1045241	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q23.1	TNFAIP8, HSD17B4	rs1045241-C	0.711	4E-12	(women)	0.0338	[0.024-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1490	chr5	118729285	118729286	rs1045241	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q23.1	TNFAIP8, HSD17B4	rs1045241-C	0.7088	2E-7		0.0189	[0.012-0.026] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1491	chr5	118856270	118856271	rs161857	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Pyoderma gangrenosum in inflammatory bowel disease	92 European ancestry cases, 5,664 European ancestry controls	NA	5q23.1	TNFAIP8, HSD17B4, FABP5L6	rs161857-T	NR	7E-6		3.0	[1.90-4.90]	Illumina [2017629] (imputed)	N
1496	chr5	119417066	119417067	rs255788	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	5q23.1	intergenic	rs255788-?		2E-6				NR [~ 3000000] (imputed)	N
1498	chr5	119679447	119679448	rs78979090	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q23.1	NR	rs78979090-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1500	chr5	119937690	119937691	rs1584468	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	5q23.1	PRR16	rs1584468-A		9E-8	(EA)			Illumina [NR]	N
1502	chr5	120198310	120198311	rs10041997	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index (change over time)	2,643 Bangladeshi ancestry females, 2,340 Bangladeshi ancestry males	NA	5q23.1	PRR16, FTMT	rs10041997-A	0.518	4E-7		0.138	[0.065-0.211] unit increase	Illumina [1208102] (imputed)	N
1502	chr5	120216036	120216037	rs78975256	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	5q23.1	FTMT, PRR16	rs78975256-G	0.02	4E-6		2.439	[0.28-0.6]	Illumina [1795103]	N
1503	chr5	120359917	120359918	rs13166268	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	5q23.1	PRR16, FTMT	rs13166268-C	0.9	9E-7	(CVLT-dr, EA)	0.4823	[0.29-0.67] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1507	chr5	120906481	120906482	rs12109307	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q23.1	NR	rs12109307-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1509	chr5	121178514	121178515	rs6887649	25140149	Hohman TJ	2014-08-04	Front Aging Neurosci	Genetic variation modifies risk for neurodegeneration based on biomarker status.	Left inferior lateral ventricle volume (Cerebrospinal fluid biomarker status interaction)	382 European ancestry mild cognitive impairment cases, 114 European ancestry Alzheimer's disease cases, 194 European ancestry controls	NA	5q23.1	FTMT	rs6887649-?		2E-8	(Baseline, amyloid positive)	5.68	[NR] unit increase interaction	Illumina [296267]	N
1511	chr5	121436595	121436596	rs890749	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	5q23.2	LOX	rs890749-C	0.19	8E-6	(EA-glucose response)	3.25	[1.82-4.68] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1512	chr5	121510585	121510586	rs17148926	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	5q23.2	LOC100505841	rs17148926-A	0.83	7E-7				Affymetrix, Illumina [14227402] (imputed)	N
1514	chr5	121854524	121854525	rs6867820	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Mood disorder and prion disease	Up to 170 cases, 5,200 controls	NA	5q23.2	SNCAIP	rs6867820-?	0.224	6E-6		2.24	[1.60-3.12]	Illumina [518938]	N
1517	chr5	122253303	122253304	rs193541	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	5q23.2	SNX24	rs193541-?		8E-6	(AIRg)	1.71	[0.85-2.57] unit decrease	Illumina [693128]	N
1517	chr5	122264735	122264736	rs2447820	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	5q23.2	intergenic	rs2447820-T	0.1	4E-6		1.09	[1.05-1.13]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1519	chr5	122454304	122454305	rs186749	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Percent mammographic density	7,916 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	5q23.2	PRDM6	rs186749-A	0.28	3E-9		0.1	[0.061-0.139] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1519	chr5	122454304	122454305	rs186749	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	5q23.2	PRDM6	rs186749-A	0.28	3E-7				Affymetrix, Illumina [~ 2500000] (imputed)	N
1519	chr5	122504565	122504566	rs335206	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	QRS duration	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	5q23.2	PRDM6	rs335206-T	0.33	3E-10		0.66	[NR] unit decrease	Affymetrix [2100000] (imputed)	N
1519	chr5	122531346	122531347	rs17470137	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Aortic root size	12,612 European ancestry individuals	4,094 European ancestry individuals	5q23.2	CCDC100, PPIC	rs17470137-A	0.29	1E-11		0.03	[0.02-0.04] cm increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1520	chr5	122615523	122615524	rs6881280	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	5q23.2	intergenic	rs6881280-G	0.0691	2E-6		0.1157	[0.068-0.164] unit increase	Illumina [2400000] (imputed)	N
1520	chr5	122657198	122657199	rs1582931	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q23.2	CEP120	rs1582931-A	0.47	2E-10		0.023	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1520	chr5	122676524	122676525	rs7708474	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	5q23.2	CEP120	rs7708474-T	0.67	5E-9		0.022	[0.01-0.034] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1521	chr5	122685127	122685128	rs2115172	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	5q23.2	NR	rs2115172-A	0.57	2E-6		2.71	[1.59-3.83] percentage SD increase	Illumina [305846]	N
1521	chr5	122774784	122774785	rs7705033	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q23.2	CCDC100	rs7705033-G	0.72	2E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1522	chr5	122855415	122855416	rs4530754	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	5q23.2	CSNK1G3	rs4530754-G	0.46	4E-12		0.028	[NR] unit decrease	NR [NR] (imputed)	N
1522	chr5	122855415	122855416	rs4530754	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	5q23.2	CSNK1G3	rs4530754-G	0.46	2E-9		0.023	[NR] unit decrease	NR [NR] (imputed)	N
1524	chr5	123119564	123119565	rs11241713	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	5q23.2	CSNK1G3	rs11241713-T	NR	3E-6	(survival)	0.79	[0.46-1.12] years increase	Illumina [288357]	N
1524	chr5	123157421	123157422	rs257016	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis in Alzheimer's disease	1,039 European ancestry cases with psychosis, 610 European ancestry cases without psychosis, 260 European, African American and Native American ancestry cases with psychosis and 125 European, African American and Native American ancestry cases without psychosis from 264 families	NA	5q23.2	AC008541.1	rs257016-?	0.63	4E-6		1.4285715	[NR]	Illumina [1882172] (imputed)	N
1524	chr5	123192433	123192434	rs1021769	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	5q23.2	intergenic	rs1021769-?	NR	7E-6	(EA)	0.0151	[0.00853-0.02172] unit decrease	Illumina [1530316]	N
1526	chr5	123398097	123398098	rs7448080	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	5q23.2	NR	rs7448080-T	0.05	4E-6		1.69	[1.47-1.91]	Illumina [4058415] (imputed)	N
1527	chr5	123571159	123571160	rs17501712	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q23.2	ZNF608	rs17501712-T	0.14	7E-7	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1529	chr5	123832651	123832652	rs12513663	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	5q23.2	intergenic	rs12513663-T	0.268	2E-6	(% improvement - 2 weeks)	1.184	[1.11-1.26]	Affymetrix, Illumina [1200000] (imputed)	N
1532	chr5	124139894	124139895	rs6595551	24465431	Ma RC	2014-01-20	PLoS One	Familial young-onset diabetes, pre-diabetes and cardiovascular disease are associated with genetic variants of DACH1 in Chinese.	Type 2 diabetes (young onset) and obesity	99 Chinese ancestry cases, 101 Chinese ancestry controls	NA	5q23.2	ZNF608	rs6595551-G	0.530	6E-6		2.63	[1.72-4.01]	Illumina [425513]	N
1533	chr5	124330521	124330522	rs6864049	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q23.2	ZNF608	rs6864049-G	0.541	2E-7		0.015	[0.0095-0.0213] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1533	chr5	124330521	124330522	rs6864049	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q23.2	ZNF608	rs6864049-G	0.533	4E-7	(EA)	0.016	[0.0097-0.0219] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1533	chr5	124332102	124332103	rs4836133	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	5q23.2	ZNF608	rs4836133-A	0.48	2E-9		0.07	[0.03-0.11] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1533	chr5	124347087	124347088	rs3936060	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	5q23.2	ZNF608	rs3936060-C	0.81	5E-6		0.049	[0.027-0.071] unit decrease	Affymetrix, Illumina [557887] (imputed)	N
1533	chr5	124365966	124365967	rs6862844	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	5q23.2	ZNF608	rs6862844-?	0.09	4E-6		6.72	[NR]	Affymetrix [512497]	N
1535	chr5	124555846	124555847	rs1898910	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	5q23.2	intergenic	rs1898910-?		7E-6	(SI)	0.38	[0.2-0.56] unit decrease	Illumina [693128]	N
1535	chr5	124588157	124588158	rs17152484	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis in non-asthmatics	249 European ancestry cases, 164 Latino cases, 248 African American/Afro-Caribbean cases, 674 European ancestry controls, 588 Latino controls, 464 African American/Afro-Caribbean controls	NA	5q23.2	NR	rs17152484-?	0.16	4E-7	(EA)	2.17	[1.32-6.67]	Affymetrix, Illumina [NR] (imputed)	N
1535	chr5	124588389	124588390	rs12520745	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis in non-asthmatics	249 European ancestry cases, 164 Latino cases, 248 African American/Afro-Caribbean cases, 674 European ancestry controls, 588 Latino controls, 464 African American/Afro-Caribbean controls	NA	5q23.2	NR	rs12520745-?	0.17	6E-7	(EA)	2.13	[1.3-5.56]	Affymetrix, Illumina [NR] (imputed)	N
1535	chr5	124600309	124600310	rs12186945	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	5q23.2	ZNF608	rs12186945-A	NR	2E-6		4.743	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1536	chr5	124699238	124699239	rs6889896	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	5q23.2	LOC644659	rs6889896-?	NR	5E-7	(% Change in score)	0.17	[NR] unit decrease	Illumina [~ 7000000] (imputed)	N
1536	chr5	124743266	124743267	rs2637496	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	5q23.2	intergenic	rs2637496-?	NR	9E-6	(progression)			Illumina [NR]	N
1537	chr5	124848905	124848906	rs17468244	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q23.2	LOC644659	rs17468244-G	0.114	8E-6	(Sedentary activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1538	chr5	124975264	124975265	rs114042773	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q23.2	NR	rs114042773-C	NR	9E-7		1.1904762	[NR]	Illumina [7158791] (imputed)	N
1540	chr5	125304546	125304547	rs1910003	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q23.2	NR	rs1910003-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1541	chr5	125319455	125319456	rs1073203	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	5q23.2	LOC100130551, GRAMD3	rs1073203-G	0.13	9E-6		1.54	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
1541	chr5	125338474	125338475	rs13169113	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	5q23.2	GRAMD3	rs13169113-?	NR	9E-6	(Delayed Story Recall)			Illumina [up to 563855]	N
1545	chr5	125848355	125848356	rs77885874	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5q23.2	intergenic	rs77885874-G	0.005	7E-6		7.7	[2.7-21.93]	Illumina [1556551]	N
1545	chr5	125918147	125918148	rs13182402	20072603	Guo Y	2010-01-08	PLoS Genet	Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.	Osteoporosis	350 Han Chinese ancestry cases, 350 Han Chinese ancestry controls	390 Han Chinese ancestry cases, 516 Han Chinese ancestry controls	5q23.2	ALDH7A1	rs13182402-G	0.05	2E-9		2.25	[1.72-2.94]	Affymetrix [281533]	N
1546	chr5	126032963	126032964	rs1546498	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	5q23.2	NR	rs1546498-C	0.61	2E-6		7.69	[4.57-10.81] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1546	chr5	126087711	126087712	rs1533106	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (total eye scanning length)	128 Han Chinese ancestry cases	NA	5q23.2	NR	rs1533106-?		3E-6		83.03	[47.2-118.86] unit decrease	Illumina [498648]	N
1547	chr5	126181861	126181862	rs959573	22658654	Chung SJ	2012-05-30	Parkinsonism Relat Disord	Genomic determinants of motor and cognitive outcomes in Parkinson's disease.	Parkinson's disease (motor and cognition)	443 European ancestry cases	NA	5q23.2	LMNB1	rs959573-?	NR	5E-6	(cognitive outcome)	1.92	[1.49-2.50]	NR [198345]	N
1551	chr5	126721852	126721853	rs10519937	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q23.2	NR	rs10519937-C	0.831854334233018	9E-6	(IGP2)	0.188	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
1551	chr5	126729449	126729450	rs143954261	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		5q23.2	MEGF10	rs143954261-?	0.04	8E-7		0.29	unit decrease	Illumina [NR] (imputed)	N
1553	chr5	126978107	126978108	rs11241936	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-42)	3,528 European ancestry individuals	NA	5q23.2	CTXN3	rs11241936-C	0.312	2E-7		0.08	[0.041-0.119] unit increase	Illumina [2316178] (imputed)	N
1554	chr5	127054277	127054278	rs4835929	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	5q23.2	NR	rs4835929-T		7E-6				Illumina [2373249] (imputed)	N
1554	chr5	127059941	127059942	rs12513840	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	5q23.2	NR	rs12513840-A		7E-6				Illumina [2373249] (imputed)	N
1554	chr5	127061970	127061971	rs12523164	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	5q23.2	NR	rs12523164-T		6E-6				Illumina [2373249] (imputed)	N
1554	chr5	127110485	127110486	rs10463832	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	5q23.2	NR	rs10463832-A		5E-6				Illumina [2373249] (imputed)	N
1554	chr5	127122311	127122312	rs10463833	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	5q23.2	NR	rs10463833-A		5E-6				Illumina [2373249] (imputed)	N
1554	chr5	127125761	127125762	rs7722425	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	5q23.2	NR	rs7722425-T		5E-6				Illumina [2373249] (imputed)	N
1554	chr5	127139615	127139616	rs1515641	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	5q23.2	NR	rs1515641-A		4E-6				Illumina [2373249] (imputed)	N
1555	chr5	127151975	127151976	rs1421746	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	5q23.2	intergenic	rs1421746-C	0.35	8E-6	(Joint)			Illumina [254145]	N
1555	chr5	127169211	127169212	rs245201	19023125	Potkin SG	2008-11-20	Schizophr Bull	A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.	Brain imaging in schizophrenia (interaction)	46 European ancestry cases, 60 European ancestry controls, 18 cases, 14 controls	NA	5q23.2	SLC12A2, CTXN3	rs245201-?	0.32	9E-8				Illumina [302783]	N
1555	chr5	127214343	127214344	rs12332385	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q23.2	NR	rs12332385-T	NR	2E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1556	chr5	127378293	127378294	rs6887276	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q23.3	SLC12A2	rs6887276-C	0.546	1E-9		0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1556	chr5	127382301	127382302	rs146579248	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		5q23.3	FLJ33630	rs146579248-?	0.04	4E-7		0.21	unit decrease	Illumina [NR] (imputed)	N
1557	chr5	127522542	127522543	rs10089	21139019	Walsh KM	2010-12-07	Endocr Relat Cancer	A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.	Ileal carcinoids	239 European ancestry cases, 107 European ancestry controls	NA	5q23.3	SLC12A2	rs10089-?	NR	2E-6		2.56	[1.79-3.70]	Illumina [308330]	N
1558	chr5	127640860	127640861	rs27855	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	5q23.3	FBN2	rs27855-A	0.81	4E-6		0.047	[0.027-0.067] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1558	chr5	127653021	127653022	rs10057405	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	5q23.3	FBN2	rs10057405-A	0.891	9E-6	(Persistence)	0.11	unit decrease	Affymetrix, Illumina [1252222] (imputed)	N
1559	chr5	127699374	127699375	rs374748	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	5q23.3	FBN2	rs374748-G	0.11	4E-6		1.47	[1.25-1.73]	Illumina [457251]	N
1559	chr5	127716566	127716567	rs17608902	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	5q23.3	intergenic	rs17608902-A	0.09	9E-6		1.19	[1.10-1.28]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1559	chr5	127716566	127716567	rs17608902	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	5q23.3	intergenic	rs17608902-A	0.09	1E-7		1.25	[1.15-1.35]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1559	chr5	127770804	127770805	rs331079	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	5q23.3	FBN2	rs331079-C	0.09	5E-6	(Left HG thickness)	0.0658	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1560	chr5	127875735	127875736	rs186263310	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q23.3	NR	rs186263310-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1560	chr5	127890719	127890720	rs7446359	25475840	Colodro-Conde L	2014-12-05	Twin Res Hum Genet	A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan.	Breastfeeding duration	1,521 mothers from 1,073 families	NA	5q23.3	FBN2	rs7446359-?	NR	4E-6		1.185	[0.68-1.69] unit decrease	Illumina [6590000] (imputed)	N
1565	chr5	128523884	128523885	rs35757618	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q23.3	NR	rs35757618-?	NR	2E-6	(AA)	1.1564	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1565	chr5	128523884	128523885	rs35757618	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5q23.3	NR	rs35757618-?	NR	3E-7	(AA)	1.1154	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1567	chr5	128722695	128722696	rs10077875	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q23.3	ADAMTS19	rs10077875-G	0.448	9E-6	(Energy intake )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1569	chr5	129000385	129000386	rs13436218	22445761	Kurose K	2012-03-23	Psychiatry Res	Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.	Sexual dysfunction (SSRI/SNRI-related)	201 Japanese ancestry individuals	NA	5q23.3	ADAMTS19	rs13436218-C	0.012	1E-6		5.92	[4.67-7.52]	Affymetrix [186320]	N
1574	chr5	129648020	129648021	rs264124	26015512	Komatsu M	2015-05-26	Clin Cancer Res	Pharmacoethnicity in Paclitaxel-Induced Sensory Peripheral Neuropathy.	Paclitaxel-induced cytotoxicity	57 Japanese ancestry lymphoblastoid cell lines, 59 Han Chinese ancestry lymphoblastoid cell lines	77 European ancestry lymphoblastoid cell lines, 87 Yoruban ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines	5q23.3	intergenic	rs264124-?	NR	7E-7		0.146	[NR] unit increase	NR [~ 4600000] (imputed)	N
1575	chr5	129792133	129792134	rs6894216	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	5q23.3	intergenic	rs6894216-?	NR	4E-6	(SF2)			Affymetrix [5476100] (imputed)	N
1576	chr5	129943318	129943319	rs7731657	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Fasting plasma glucose	1,027 individuals	NA	5q23.3	intergenic	rs7731657-?	NR	7E-6	(tFPG)			Affymetrix [70897]	N
1576	chr5	130017286	130017287	rs4836519	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	5q23.3	intergenic	rs4836519-T	0.768	4E-10		1.072	[1.039-1.106]	Affymetrix, Illumina [1230000] (imputed)	N
1577	chr5	130096259	130096260	rs12518350	24281739	Boardman JD	2013-11-27	Demography	Is the gene-environment interaction paradigm relevant to genome-wide studies? The case of education and body mass index.	Body mass index (education interaction)	816 non-college graduate individuals, 1,061 college graduate individuals	NA	5q23.3	NR	rs12518350-?	NR	6E-6				Affymetrix [260402]	N
1577	chr5	130104075	130104076	rs10051722	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q23.3	NR	rs10051722-A	0.7	9E-9	(EA)	1.0635655		Affymetrix, Illumina [~ 9000000] (imputed)	N
1577	chr5	130104075	130104076	rs10051722	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q23.3	NR	rs10051722-C	0.7	4E-12	(EA)	1.0947279		Affymetrix, Illumina [~ 9000000] (imputed)	N
1579	chr5	130413980	130413981	rs6867265	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	5q23.3	NR	rs6867265-A		2E-6	(Modelling analysis)	1.11	[1.06-1.16]	NR [1252901] (imputed)	N
1581	chr5	130613599	130613600	rs11743851	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.1	NR	rs11743851-G	0.3698	2E-23	(EA)	1.1078569	[1.09-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1581	chr5	130613599	130613600	rs11743851	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.1	NR	rs11743851-G	0.3698	1E-31	(EA)	1.1548939	[1.13-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1582	chr5	130687136	130687137	rs382216	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	5q31.1	CDC42SE2	rs382216-C	0.64	2E-7		1.1494253	[1.09-1.22]	NR [NR]	N
1582	chr5	130764935	130764936	rs7735563	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	5q31.1	RAPGEF6, CDC42SE2, FNIP1	rs7735563-G	0.008	1E-6		6.67	[2.75-16.17]	Illumina [1556551]	N
1583	chr5	130888423	130888424	rs6890695	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	5q31.1	RAPGEF6	rs6890695-G	0.79	6E-7		1.1494253	[1.09-1.22]	NR [NR]	N
1585	chr5	131109544	131109545	rs758324	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	5q31.1	FNIP1	rs758324-T	0.81	4E-7		1.1627907	[1.1-1.22]	NR [NR]	N
1586	chr5	131232958	131232959	rs142958719	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	5q31.1	FNIP1, ACSL6	rs142958719-G	0.82	3E-7		1.1627907	[1.1-1.23]	NR [NR]	N
1586	chr5	131301614	131301615	rs476428	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	5q31.1	ACSL6	rs476428-G	0.81	2E-7		1.1627907	[1.1-1.23]	NR [NR]	N
1587	chr5	131402737	131402738	rs3091338	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	5q31.1	IL3, ACSL6, P4HA2, PDLIM4, SLC22A4	rs3091338-T	0.328	4E-8		1.23	[1.08-1.42]	Affymetrix, Illumina [1060934] (imputed)	N
1587	chr5	131430117	131430118	rs657075	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	5q31.1	CSF2, IL3	rs657075-A	0.35	6E-6	(East Asian)	1.12	[1.07-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1587	chr5	131430117	131430118	rs657075	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	5q31.1	CSF2, IL3	rs657075-A	0.17	8E-7		1.09	[1.05-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1587	chr5	131430117	131430118	rs657075	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	5q31.1	CSF2	rs657075-A	0.36	3E-10		1.12	[1.08-1.15]	Affymetrix, Illumina [1948139]	N
1588	chr5	131479496	131479497	rs115545556	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q31.1	NR	rs115545556-?	NR	5E-7				Affymetrix [5486770] (imputed)	N
1588	chr5	131590533	131590534	rs7727544	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q31.1	SLC22A4	rs7727544-T	0.56	7E-16	(propionylcarnitine)	0.015	[0.011-0.019] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr5	131633354	131633355	rs419291	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q31.1	SLC22A4	rs419291-T	0.37	3E-18	(carnitine)	0.008	[0.006-0.01] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr5	131652528	131652529	rs11950562	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q31.1	SLC22A4	rs11950562-A	0.53	7E-11	(homostachydrine)	0.03	[0.020-0.040] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr5	131652528	131652529	rs11950562	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q31.1	SLC22A4	rs11950562-A	0.52	2E-41	(isovalerylcarnitine)	0.036	[0.03-0.042] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr5	131656699	131656700	rs270602	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	5q31.1	SLC22A4, SLC22A5	rs270602-T	0.3826	2E-15	(Acetylcarnitine)	0.0505	[0.038-0.063] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1589	chr5	131656996	131656997	rs270601	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	5q31.1	SLC22A4, SLC22A5	rs270601-T	0.2979	8E-16	(Octadecenoylcarnitine)	0.0433	[0.033-0.054] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1589	chr5	131660430	131660431	rs273914	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q31.1	SLC22A4	rs273914-A	0.37	3E-11	(oleoylcarnitine)	0.023	[0.015-0.031] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr5	131661155	131661156	rs273913	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q31.1	SLC22A4	rs273913-T	0.38	1E-25	(3-dehydrocarnitine)	0.026	[0.02-0.032] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr5	131665377	131665378	rs272889	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	5q31.1	SLC22A4	rs272889-A	0.37	3E-51	(valine/isovalerylcarnitine)	0.039	[0.033-0.045] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr5	131665377	131665378	rs272889	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	5q31.1	SLC22A4	rs272889-A	0.37	7E-16	(isovalerylcarnitine + 7 other traits)	0.084	[NR] unit increase	Affymetrix, Illumina [534665]	N
1589	chr5	131672656	131672657	rs56399423	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.1	NR	rs56399423-?	NR	4E-43	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1589	chr5	131677996	131677997	rs272869	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q31.1	SLC22A4	rs272869-A	0.37	1E-11	(hexanoylcarnitine)	0.022	[0.016-0.028] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr5	131686145	131686146	rs10058074	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	5q31.1	FLJ44796	rs10058074-A	0.45	4E-12		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1589	chr5	131699866	131699867	rs274546	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q31.1	SLC22A5	rs274546-A	0.4	7E-16		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1589	chr5	131714408	131714409	rs274567	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q31.1	SLC22A4	rs274567-T	0.37	3E-12	(acetylcarnitine)	0.018	[0.012-0.024] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr5	131721203	131721204	rs274557	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	8,631 European ancestry individuals	NA	5q31.1	SLC22A5	rs274557-T	0.599	4E-6		0.14	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1589	chr5	131721748	131721749	rs7731390	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q31.1	NR	rs7731390-C	0.947771454651685	2E-6	(IGP42)	0.3846	[0.23-0.54] unit increase	Illumina [~ 2500000] (imputed)	N
1589	chr5	131721748	131721749	rs7731390	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q31.1	NR	rs7731390-C	0.947724237786775	3E-6	(IGP2)	0.3771	[0.22-0.53] unit increase	Illumina [~ 2500000] (imputed)	N
1589	chr5	131723287	131723288	rs2073643	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	5q31.1	SLC22A5	rs2073643-T	0.45	2E-7		1.11	[1.06-1.15]	Illumina [582892]	N
1590	chr5	131739432	131739433	rs6893782	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	5q31.1	SLC22A4, SLC22A5	rs6893782-A	0.8273	1E-17	(Carnitine)	0.0449	[0.035-0.055] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1590	chr5	131741695	131741696	rs2405522	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	5q31.1	SLC22A4	rs2405522-A	0.17	4E-29	(tryptophan betaine )	0.126	[0.1-0.15] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1590	chr5	131742227	131742228	rs6596075	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	5q31.1	intergenic	rs6596075-C	0.17	3E-6		1.55	[1.00-2.39]	Affymetrix [469557]	N
1590	chr5	131744573	131744574	rs1016988	20031577	Danik JS	2009-04-01	Circ Cardiovasc Genet	Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.	Fibrinogen	17,686 European ancestry female individuals	NA	5q31.1	IRF1, SLC22A5, SLC22A4	rs1016988-G	0.20	1E-12		6.84	[NR] mg/dl decrease	Illumina [337343]	N
1590	chr5	131756057	131756058	rs11242111	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	5q31.1	C5orf56, IRF1	rs11242111-A	0.05	2E-21	(EA)	0.023	[0.019-0.027] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
1590	chr5	131769173	131769174	rs2106854	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	5q31.1	C5orf56, IRF1	rs2106854-T	0.21	2E-48	(EA)	0.019	[0.017-0.021] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
1590	chr5	131770804	131770805	rs2188962	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	5q31.1	CSF2, IL13, IL4, IL5, IL3, IRF1, SLC22A5, ACSL6, PDLIM4, SLC22A4	rs2188962-T	0.425	1E-52		1.158	[1.125-1.191]	Affymetrix, Illumina [1230000] (imputed)	N
1590	chr5	131770804	131770805	rs2188962	20570966	McGovern DP	2010-06-22	Hum Mol Genet	Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.	Crohn's disease	896 European ancestry cases, 3,204 European ancestry controls	1,174 European ancestry cases, 357 European ancestry controls	5q31.1	IBD5	rs2188962-?	NR	1E-7		1.36	[1.21-1.52]	Illumina [304825]	N
1590	chr5	131770804	131770805	rs2188962	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	5q31.1	intergenic	rs2188962-T	0.43	2E-18		1.25	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1590	chr5	131778451	131778452	rs17622378	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.1	NR	rs17622378-G	0.4186	4E-11	(EA)	1.0865855	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1590	chr5	131778451	131778452	rs17622378	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.1	NR	rs17622378-G	0.4186	1E-42	(EA)	1.1465615	[1.13-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1590	chr5	131778451	131778452	rs17622378	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.1	NR	rs17622378-G	0.4186	7E-56	(EA)	1.2094882	[1.19-1.23]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1590	chr5	131784392	131784393	rs12521868	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	5q31.1	IL3, IRF1, SLC22A5, SLC22A4	rs12521868-T	0.422	1E-20		1.23	[1.18-1.28]	Affymetrix, Illumina [953241] (imputed)	N
1590	chr5	131796921	131796922	rs11745587	22561531	Wan YI	2012-05-05	Thorax	Genome-wide association study to identify genetic determinants of severe asthma.	Asthma	933 European ancestry cases, 3,346 European ancestry controls	231 European ancestry cases, 1,345 European ancestry controls	5q31.1	C5orf56	rs11745587-?	NR	2E-6		1.26	[1.15-1.39]	Illumina [6103628] (imputed)	N
1590	chr5	131801725	131801726	rs2522056	20031576	Dehghan A	2009-04-01	Circ Cardiovasc Genet	Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.	Fibrinogen	22,096 European ancestry individuals	17,686 European ancestry female individuals	5q31.1	IRF1	rs2522056-A	0.21	1E-15		0.06	[0.04-0.08] g/L decrease	Affymetrix, Illumina [~ 2661766] (imputed)	N
1590	chr5	131819920	131819921	rs2070729	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	5q31.1	IRF1	rs2070729-A	NR	1E-10		2.394	[1.67-3.12] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1590	chr5	131829296	131829297	rs2549003	24824216	Myers RA	2014-05-13	Hum Mol Genet	Genome-wide interaction studies reveal sex-specific asthma risk alleles.	Asthma (sex interaction)	1,052 European ancestry male cases, 1,019 European ancestry female cases, 709 European ancestry male controls, 826 European ancestry female controls, 675 African American/African Caribbean male cases, 837 African American/African Caribbean female cases, 577 African American/African Caribbean male controls, 926 African American/African Caribbean female controls, 926 Latino male cases, 710 Latino female cases, 410 Latino male controls, 382 Latino female controls	NA	5q31.1	IRF1, SLC22A4	rs2549003-G	0.39	9E-7	(European, male)	1.33	[1.18-1.49]	Affymetrix, Illumina [~ 2100000] (imputed)	N
1590	chr5	131839617	131839618	rs4705952	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	5q31.1	IRF1	rs4705952-G	NR	1E-8		0.042	[0.03-0.05] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1591	chr5	131862976	131862977	rs4143832	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	5q31.1	IL5	rs4143832-C	0.16	1E-10	(EA)	7.1	[4.9-9.2] % standard unit increase	Illumina [312179]	N
1591	chr5	131901224	131901225	rs2244012	20159242	Li X	2010-02-01	J Allergy Clin Immunol	Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.	Asthma	607 European ancestry cases, 3,294 European ancestry controls	NA	5q31.1	RAD50	rs2244012-C	0.21	3E-7		1.64	[1.36-1.97]	Illumina [292443]	N
1591	chr5	131952221	131952222	rs6596086	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q31.1	RAD50	rs6596086-?	NR	2E-18	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
1591	chr5	131969873	131969874	rs6871536	24241537	Bonnelykke K	2013-11-17	Nat Genet	A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.	Asthma (childhood onset)	1,173 European ancestry cases, 2,511 European ancestry controls	395 European ancestry cases, 2,663 European ancestry controls, 63 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry cases, 917 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry controls, 6,783 cases, 7,720 controls	5q31.1	RAD50	rs6871536-C	0.22	8E-7		1.17	[1.10-1.25]	Affymetrix, Illumina [124514]	N
1591	chr5	131973176	131973177	rs2040704	18846228	Weidinger S	2008-08-22	PLoS Genet	Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.	IgE levels	1,530 European ancesrty individuals	9,769 European ancestry individuals	5q31.1	RAD50	rs2040704-?	0.23	4E-8		13.9	[NR] % increase	Affymetrix [353569]	N
1591	chr5	131989135	131989136	rs3091307	25865352	Schaarschmidt H	2015-04-10	J Allergy Clin Immunol	A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.	Atopic dermatitis	870 European ancestry cases, 5,293 European ancestry controls	1,383  European ancestry cases, 1,728 European ancestry controls	5q31.1	RAD50	rs3091307-A	0.228	4E-7		1.24	[NR]	Affymetrix [1623390] (imputed)	N
1592	chr5	131995842	131995843	rs1295686	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	5q31.1	RAD50, IL13, IL4, KIF3A	rs1295686-T	NR	5E-9		1.347	[1.28-1.418]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1592	chr5	131995842	131995843	rs1295686	24241537	Bonnelykke K	2013-11-17	Nat Genet	A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.	Asthma (childhood onset)	1,173 European ancestry cases, 2,511 European ancestry controls	395 European ancestry cases, 2,663 European ancestry controls, 63 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry cases, 917 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry controls, 6,783 cases, 7,720 controls	5q31.1	IL13	rs1295686-T	NR	2E-6		1.31	[1.17-1.48]	Affymetrix, Illumina [124514]	N
1592	chr5	131995842	131995843	rs1295686	23886662	Weidinger S	2013-07-25	Hum Mol Genet	A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.	Atopic dermatitis	1563 European ancestry cases, 4,054 European ancestry controls	2,286 European ancestry cases, 3,160 European ancestry controls	5q31.1	IL13, RAD50	rs1295686-A	NR	2E-17		1.383	[1.283-1.49]	Illumina [2406139] (imputed)	N
1592	chr5	131995842	131995843	rs1295686	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	5q31.1	KIF3A, IL13	rs1295686-T	0.30	2E-6		1.22	[NR]	Illumina [606164]	N
1592	chr5	131995842	131995843	rs1295686	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	5q31.1	IL13	rs1295686-T	0.20	1E-7		1.15	[1.09-1.20]	Illumina [582892]	N
1592	chr5	131995963	131995964	rs20541	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q31.1	IL13	rs20541-G	0.79	5E-9		1.14	[1.09-1.19]	Illumina [up to 4778154] (imputed)	N
1592	chr5	131995963	131995964	rs20541	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	5q31.1	IL13, IL4	rs20541-A	NR	5E-6		1.1890606	[1.14-1.23]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1592	chr5	131995963	131995964	rs20541	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	5q31.1	intergenic	rs20541-A	0.2019	1E-6		0.0724	[0.043-0.101] unit increase	Illumina [2400000] (imputed)	N
1592	chr5	131995963	131995964	rs20541	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	5q31.1	IL13	rs20541-?	NR	1E-8	(EBV-negative cHL)	1.47	[1.29-1.68]	Illumina [502514]	N
1592	chr5	131995963	131995964	rs20541	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	5q31.1	IL13	rs20541-A	NR	3E-18		0.08	[NR] unit increase	Affymetrix [2540223] (imputed)	N
1592	chr5	131995963	131995964	rs20541	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	5q31.1	IL13	rs20541-G	0.79	5E-15		1.27	[NR]	Perlegen [~ 2500000] (imputed)	N
1592	chr5	131998412	131998413	rs2069757	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	5q31.1	IL13	rs2069757-A	0.07	2E-11		1.59	[1.39-1.82]	Affymetrix, Illumina [1004829] (imputed)	N
1592	chr5	132049026	132049027	rs2897442	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	5q31.1	KIF3A	rs2897442-C	0.29	4E-8		1.11	[1.07-1.15]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1596	chr5	132628883	132628884	rs17166496	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	5q31.1	NR	rs17166496-G	0.61	5E-6		1.3	[1.15-1.47]	Affymetrix [469557]	N
1599	chr5	133021850	133021851	rs6596140	22384028	Guo Y	2012-02-24	PLoS One	A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits.	Hypertension	315 Hong Kong Chinese ancestry individuals from 111 families	NA	5q31.1	FSTL4	rs6596140-T	0.34	9E-8				Illumina [503984]	N
1601	chr5	133179079	133179080	rs2457174	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	5q31.1	C5orf15	rs2457174-?		7E-8				Illumina [859311]	N
1601	chr5	133203595	133203596	rs1644305	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	5q31.1	C5orf15	rs1644305-A	0.41	8E-6				Perlegen [378332]	N
1603	chr5	133446574	133446575	rs756699	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	5q31.1	TCF7	rs756699-A	NR	6E-7		1.12	[1.1-1.14]	Illumina [465434]	N
1606	chr5	133849176	133849177	rs13187289	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	5q31.1	PHF15	rs13187289-G	0.20	2E-10		3.0	[2.02-3.98] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1606	chr5	133900512	133900513	rs13179411	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	5q31.1	PHF15, TCF7	rs13179411-T	0.17	3E-20		0.06	[0.046-0.074] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1609	chr5	134240234	134240235	rs319598	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	5q31.1	PCBD2	rs319598-C		2E-6		1.05	[1.03-1.07]	Affymetrix, Illumina [2500000] (imputed)	N
1609	chr5	134321545	134321546	rs299362	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	5q31.1	CATSPER3, PCBD2, PITX1	rs299362-A	0.886	3E-6		0.062	[0.037-0.087] unit decrease	Illumina [6150213] (imputed)	N
1609	chr5	134348702	134348703	rs537930	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	5q31.1	CATSPER3	rs537930-T	0.28	9E-9		0.035	[0.021-0.049] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1610	chr5	134356704	134356705	rs526896	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	5q31.1	PITX1	rs526896-T	0.48	5E-7		0.036	[0.022-0.05] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1610	chr5	134356704	134356705	rs526896	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	5q31.1	PITX1	rs526896-T	0.72	9E-10		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1610	chr5	134356704	134356705	rs526896	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q31.1	PITX1	rs526896-T	0.73	2E-13		0.03	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1610	chr5	134366199	134366200	rs3805663	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	5q31.1	CATSPER3, PITX1	rs3805663-T	0.63	2E-8		1.25	[1.13-1.38]	Illumina [307291]	N
1610	chr5	134372684	134372685	rs31198	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	5q31.1	DDX46, CAMLG, CATSPER3, PCBD2, PITX1, TXNDC15	rs31198-T	0.75	8E-6		4.8	[2.64-6.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1610	chr5	134441456	134441457	rs254562	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.1	NR	rs254562-?	NR	3E-10	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1610	chr5	134443605	134443606	rs254560	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.1	NR	rs254560-A	0.4024	4E-10	(EA)	1.0823938	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1610	chr5	134443605	134443606	rs254560	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.1	NR	rs254560-A	0.4024	9E-10	(EA)	1.0634166	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1610	chr5	134443605	134443606	rs254560	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	5q31.1	intergenic	rs254560-A	0.397	3E-9		1.056	[1.019-1.093]	Affymetrix, Illumina [1230000] (imputed)	N
1610	chr5	134443605	134443606	rs254560	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	5q31.1	intergenic	rs254560-A	0.40	1E-9		1.07	[1.03-1.12]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1610	chr5	134467699	134467700	rs477687	21502085	Troyer JL	2011-05-01	J Infect Dis	Genome-wide association study implicates PARD3B-based AIDS restriction.	AIDS progression	755 European ancestry seroconverter cases	NA	5q31.1	H2AFY	rs477687-?	0.18	6E-6		1.55	[NR]	Affymetrix [700022]	N
1611	chr5	134499091	134499092	rs647161	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	5q31.1	PITX1	rs647161-A	0.31	2E-14	(East Asian)	1.15	[1.11-1.19]	Affymetrix, Illumina [2400000] (imputed)	N
1611	chr5	134499091	134499092	rs647161	23263487	Jia WH	2012-12-23	Nat Genet	Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.	Colorectal cancer	2,098 East Asian ancestry cases, 5,749 East Asian ancestry controls	5,358 East Asian ancestry cases, 5,922 East Asian ancestry controls, 26,060 European ancestry individuals	5q31.1	CATSPER3, PCBD2, MIR4461 and H2AFY, PITX1	rs647161-A	0.667	1E-10		1.11	[1.08-1.15]	Affymetrix, Illumina [1636380] (imputed)	N
1611	chr5	134499091	134499092	rs647161	23263487	Jia WH	2012-12-23	Nat Genet	Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.	Colorectal cancer	2,098 East Asian ancestry cases, 5,749 East Asian ancestry controls	5,358 East Asian ancestry cases, 5,922 East Asian ancestry controls, 26,060 European ancestry individuals	5q31.1	CATSPER3, PCBD2, MIR4461 and H2AFY, PITX1	rs647161-A	0.313	4E-10	(East Asian)	1.17	[1.11-1.22]	Affymetrix, Illumina [1636380] (imputed)	N
1611	chr5	134563156	134563157	rs634308	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	5q31.1	H2AFY, PITX1	rs634308-G	NR	4E-6		0.1	[0.057-0.143] unit decrease	Affymetrix [736996]	N
1611	chr5	134572228	134572229	rs606854	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q31.1	H2AFY	rs606854-A	0.377	6E-6	(Total glutathione )	0.03	[NR] umol/L increase	Illumina [899892]	N
1614	chr5	134901155	134901156	rs10045413	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	5q31.1	CXCL14	rs10045413-T	0.68	7E-6		0.039	unit increase	Illumina [~ 6300000] (imputed)	N
1616	chr5	135164617	135164618	rs13178541	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q31.1	NR	rs13178541-C	0.811571763392857	5E-6	(IGP36)	0.1833	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1616	chr5	135214676	135214677	rs7734448	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q31.1	SLC25A48	rs7734448-A	0.0050	3E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1617	chr5	135377565	135377566	rs7719624	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	5q31.1	TGFBI	rs7719624-?		4E-6				Affymetrix, Illumina [1348798]	N
1617	chr5	135396451	135396452	rs13168506	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	5q31.1	TGFBI	rs13168506-A	0.27	3E-7	(cohort study)	1.33	[1.19-1.49]	Affymetrix, Illumina [up to 2600000] (imputed)	N
1625	chr5	136332793	136332794	rs6876032	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q31.2	NR	rs6876032-?	NR	8E-6	(Native Hawaiian)	0.4158	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1625	chr5	136443246	136443247	rs79987496	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q31.2	NR	rs79987496-?	NR	2E-7	(Native Hawaiian)	1.1521	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1628	chr5	136716723	136716724	rs1229741	25786224	Johnson EO	2015-03-18	PLoS One	Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.	HIV-1 susceptibility	628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls	1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls	5q31.2	SPOCK1, KDM3B	rs1229741-A	0.10	3E-6		1.67	[1.33-2.13] (AA)	Illumina [~ 8000000] (imputed)	N
1629	chr5	136902695	136902696	rs1541364	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	5q31.2	SPOCK1, KLHL3	rs1541364-G	0.41	9E-6	(Dominant model)	1.24	[NR]	Illumina [1795103]	N
1631	chr5	137194761	137194762	rs7722600	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	5q31.2	MYOT	rs7722600-A	0.815	3E-7				Affymetrix, Illumina [2516789] (imputed)	N
1633	chr5	137419988	137419989	rs2040862	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	5q31.2	WNT8A	rs2040862-T	0.18	3E-7		1.12	[1.07-1.17]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1634	chr5	137573724	137573725	rs10040989	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	5q31.2	GFRA3	rs10040989-A	0.133	5E-11		0.85	[0.6-1.1] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1634	chr5	137599333	137599334	rs11242417	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	5q31.2	GFRA3	rs11242417-C		6E-8	(EA)			Illumina [NR]	N
1635	chr5	137673166	137673167	rs3756766	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q31.2	NR	rs3756766-A	NR	2E-8		1.07	[NR]	Illumina [7158791] (imputed)	N
1635	chr5	137707314	137707315	rs757647	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	5q31.2	KDM3B	rs757647-A	0.22	5E-8		2.4	[1.62-3.18] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1635	chr5	137725002	137725003	rs17171818	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	5q31.2	KDM3B, BRD8	rs17171818-C	0.77	9E-14		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1636	chr5	137782114	137782115	rs4835796	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	5q31.2	NR	rs4835796-G	NR	6E-7	(phenotype 1)	2.89	[NR]	Illumina [> 8000000] (imputed)	N
1636	chr5	137851191	137851192	rs3849046	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q31.2	NR	rs3849046-T	NR	6E-9		1.06	[NR]	Illumina [7158791] (imputed)	N
1636	chr5	137851191	137851192	rs3849046	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	5q31.2	CDC25C, CTNNA1, EGR1, ETF1, FAM53C, GFRA3, HSPA9, KDM3B, REEP2	rs3849046-T	0.523	5E-9		1.063	[1.042-1.085]	Affymetrix, Illumina [9005918] (imputed)	N
1644	chr5	138850904	138850905	rs13181561	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	5q31.2	AC138517.1	rs13181561-G	0.27	6E-6	(FG)			Illumina [588352]	N
1644	chr5	138850904	138850905	rs13181561	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	5q31.2	ECSM2, TMEM173	rs13181561-G		3E-14	(EA)			Illumina [NR]	N
1644	chr5	138861145	138861146	rs7447927	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	5q31.2	TMEM173	rs7447927-C	0.54	8E-20		1.18	[1.14-1.22]	Affymetrix, Illumina [7556215] (imputed)	N
1645	chr5	138949361	138949362	rs261532	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	5q31.2	UBE2D2	rs261532-A		3E-7	(EA)			Illumina [NR]	N
1645	chr5	139065179	139065180	rs35123781	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q31.2	NR	rs35123781-G	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1646	chr5	139080744	139080745	rs13174863	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q31.2	CXXC5	rs13174863-G	0.169	5E-6	(EA, women)	0.026	[0.015-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1650	chr5	139707438	139707439	rs11168036	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	5q31.3	PFDN1, HBEGF	rs11168036-T	0.5	3E-7		1.12	[1.07-1.17]	NR [NR]	N
1654	chr5	140146898	140146899	rs13168670	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q31.3	NR	rs13168670-T	NR	4E-7		1.05	[NR]	Illumina [7158791] (imputed)	N
1655	chr5	140372221	140372222	rs31872	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q31.3	PCDHAC1	rs31872-G	0.39	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1658	chr5	140682890	140682891	rs3749779	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q31.3	SLC25A2	rs3749779-C	0.165	7E-6	(Vitamin B12 )	0.02	[NR] pmol/L increase	Illumina [899892]	N
1658	chr5	140700488	140700489	rs10875595	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	5q31.3	intergenic	rs10875595-?	NR	1E-6	(FEV1/FVC decline in asthmatics)	0.2523	[0.15-0.35] unit decrease	Illumina [~ 2500000] (imputed)	N
1661	chr5	141035173	141035174	rs79464052	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	5q31.3	ARAP3	rs79464052-C	0.056	6E-8		1.34	[1.21-1.49]	Illumina [8363971] (imputed)	N
1662	chr5	141189167	141189168	rs248471	23406873	Shi Y	2013-02-28	Hum Mol Genet	A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.	Myopia (pathological)	665 Han Chinese ancestry cases, 960 Han Chinese ancestry controls	2,128 Han Chinese ancestry cases, 3,683 Han Chinese ancestry controls	5q31.3	PCDH1	rs248471-G	0.277	2E-6		1.19	[1.11-1.28]	Illumina [286031]	N
1662	chr5	141210752	141210753	rs166040	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	5q31.3	PCDH1	rs166040-G	0.87	5E-6	(partial response - 2 weeks)	1.6054	[1.41-1.8]	Affymetrix, Illumina [1200000] (imputed)	N
1664	chr5	141445979	141445980	rs6867913	22561531	Wan YI	2012-05-05	Thorax	Genome-wide association study to identify genetic determinants of severe asthma.	Asthma	933 European ancestry cases, 3,346 European ancestry controls	231 European ancestry cases, 1,345 European ancestry controls	5q31.3	NDFIP1	rs6867913-?	NR	4E-6		1.33	[1.18-1.49]	Illumina [6103628] (imputed)	N
1664	chr5	141479064	141479065	rs11167764	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	5q31.3	NDFIP1	rs11167764-C	0.796	2E-9		1.06	[1.02-1.11]	Affymetrix, Illumina [953241] (imputed)	N
1664	chr5	141513203	141513204	rs6863411	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.3	NR	rs6863411-T	0.63	6E-7	(EA)	1.0674366		Affymetrix, Illumina [~ 9000000] (imputed)	N
1664	chr5	141513203	141513204	rs6863411	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.3	NR	rs6863411-A	0.63	2E-14	(EA)	1.1018033		Affymetrix, Illumina [~ 9000000] (imputed)	N
1664	chr5	141513203	141513204	rs6863411	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	5q31.3	SPRY4, NDFIP1	rs6863411-T	0.63	4E-14		1.089	[1.057-1.121]	Affymetrix, Illumina [1230000] (imputed)	N
1664	chr5	141522999	141523000	rs1062158	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	5q31.3	NDFIP1	rs1062158-A	NR	2E-6		1.08	[1.07-1.1]	Illumina [465434]	N
1664	chr5	141533061	141533062	rs449454	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q31.3	NR	rs449454-?	NR	2E-14	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1665	chr5	141681787	141681788	rs4624820	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	5q31.3	SPRY4	rs4624820-A	0.54	3E-31		1.52	[1.38-1.67]	Illumina [307291]	N
1665	chr5	141681787	141681788	rs4624820	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	5q31.3	SPRY4	rs4624820-G	NR	8E-10		1.6393	[1.39-1.89]	Illumina [NR]	N
1665	chr5	141681787	141681788	rs4624820	20543847	Turnbull C	2010-06-13	Nat Genet	Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.	Testicular germ cell cancer	979 European ancestry cases, 4,947 European ancestry controls	664 European ancestry cases, 3,456 European ancestry controls	5q31.3	SPRY4	rs4624820-?	0.54	1E-14		1.47	[1.33-1.64]	Illumina [298782]	N
1665	chr5	141681787	141681788	rs4624820	19483681	Rapley EA	2009-05-31	Nat Genet	A genome-wide association study of testicular germ cell tumor.	Testicular germ cell tumor	730 cases, 1,435 controls	571 cases, 1,806 controls	5q31.3	SPRY4	rs4624820-A	0.54	3E-13		1.37	[1.19-1.58]	Illumina [307666]	N
1667	chr5	141863603	141863604	rs17577085	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Coronary heart disease	260 African American cases, 5,053 African American controls	621 African American cases, 1,629 African American controls	5q31.3	intergenic	rs17577085-?	0.46	4E-6		2.631579	[1.72-3.85]	Affymetrix [~ 2740000] (imputed)	N
1667	chr5	141864372	141864373	rs3850579	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	5q31.3	intergenic	rs3850579-G	0.5266	7E-6	(Primary)	0.2647	[0.15-0.38] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1667	chr5	141924394	141924395	rs152439	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q31.3	NR	rs152439-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1668	chr5	142017859	142017860	rs152528	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	5q31.3	FGF1	rs152528-?	NR	8E-7	(recessive)			Affymetrix [361034]	N
1668	chr5	142080084	142080085	rs6893858	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	5q31.3	NR	rs6893858-C	0.9727	4E-6	(Trans/cis-18:2, EA)	0.0143	[0.0082-0.0204] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1669	chr5	142095249	142095250	rs17099388	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	5q31.3	NR	rs17099388-A	0.0344	4E-7	(Trans/cis-18:2, EA)	0.0127	[0.0078-0.0176] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1669	chr5	142095951	142095952	rs6890562	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	5q31.3	NR	rs6890562-A	0.9696	6E-7	(Trans/cis-18:2, EA)	0.0145	[0.0088-0.0202] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1671	chr5	142441793	142441794	rs3776331	18759275	McArdle PF	2008-09-01	Arthritis Rheum	Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.	Uric acid levels	408 Old Order Amish female individuals, 460 Old Order Amish male individuals	Framingham Heart Study (Sample size NR)	5q31.3	NR	rs3776331-?	NR	8E-6		0.3	[NR] mg/dl increase in uric acid levels	Affymetrix [361034]	N
1675	chr5	142899800	142899801	rs12153243	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	5q31.3	intergenic	rs12153243-T	0.39	6E-6		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1676	chr5	143003604	143003605	rs17100498	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	5q31.3	intergenic	rs17100498-?	0.126	5E-7	(risperidone-hemoglobin A1c)			Affymetrix [492900]	N
1679	chr5	143411345	143411346	rs391760	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	5q31.3	NR	rs391760-?	NR	2E-6				NR [up to 8466825] (imputed)	N
1679	chr5	143422944	143422945	rs409220	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	5q31.3	NR	rs409220-?	NR	3E-6				NR [up to 8466825] (imputed)	N
1687	chr5	144528454	144528455	rs1981626	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	5q32	KCTD16	rs1981626-?		8E-6				Illumina [859311]	N
1689	chr5	144736244	144736245	rs2112743	25387708	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of acoustic startle eye blink and affectively modulated startle response: A genome-wide association study.	Acoustic startle blink response	3,323 European ancestry twins and their parents	NA	5q32	intergenic	rs2112743-?	NR	9E-6	(Aversive Difference Startle Scores)	0.087	[0.048-0.126] unit increase	Illumina [527829]	N
1691	chr5	145038830	145038831	rs10515552	22367966	Lin X	2012-02-24	Hum Mol Genet	Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.	Vitamin B12 levels	1,999 Han Chinese ancestry individuals	1,496 Chinese ancestry individuals	5q32	intergenic	rs10515552-?	NR	4E-8		43.93	[28.29-59.57] pg/ml increase	Illumina [1940245] (imputed)	N
1696	chr5	145749534	145749535	rs7718446	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	5q32	intergenic	rs7718446-?	0.72	4E-6		1.11	[1.06-1.16]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1700	chr5	146225243	146225244	rs609412	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	5q32	PPP2R2B	rs609412-A		2E-6	(Modelling analysis)	1.07	[1.04-1.10]	NR [1252901] (imputed)	N
1701	chr5	146320822	146320823	rs1864982	19581569	Treutlein J	2009-07-01	Arch Gen Psychiatry	Genome-wide association study of alcohol dependence.	Alcohol dependence	476 European ancestry cases, 1,358 European ancestry controls	1,024 European ancestry cases, 996 European ancestry controls	5q32	PPP2R2B	rs1864982-A	0.13	3E-6		1.36	[1.20-1.55]	Illumina [524396]	N
1702	chr5	146415215	146415216	rs9325032	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	5q32	intergenic	rs9325032-?	NR	3E-6	(F2)			Affymetrix [70897]	N
1702	chr5	146460690	146460691	rs17524553	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	5q32	PPP2R2B	rs17524553-T	0.89	4E-6	(men)	0.15	[0.085-0.215] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1708	chr5	147225513	147225514	rs891992	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q32	SPINK1	rs891992-G	0.234	6E-6	(AST )	0.03	[NR] U/L increase	Illumina [899892]	N
1711	chr5	147603066	147603067	rs1368304	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q32	NR	rs1368304-G	0.915930538379341	9E-6	(IGP3)	0.2439	[0.14-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
1712	chr5	147805119	147805120	rs10043775	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	5q32	FBXO38, HTR4	rs10043775-T	0.703	2E-6	(Red)	2.06	[1.51-2.83]	Affymetrix [~ 2500000] (imputed)	N
1712	chr5	147842352	147842353	rs11168048	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	5q32	HTR4	rs11168048-?	NR	5E-17	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1712	chr5	147842352	147842353	rs11168048	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	5q32	HTR4	rs11168048-T	0.58	1E-11	(FEV1/FVC)	0.4	[NR] % decrease	Affymetrix, Illumina [2534500] (imputed)	N
1712	chr5	147845814	147845815	rs3995090	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	5q32	HTR4	rs3995090-C	0.41	4E-9	(FEV1)	0.038	[0.026-0.050] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1713	chr5	147856332	147856333	rs7733088	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	5q32	HTR4	rs7733088-?	0.62	4E-9	(Smoker)	1.2346	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
1716	chr5	148283321	148283322	rs17108911	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	5q32	NR	rs17108911-?	NR	6E-6		8.022	[4.69-11.35] unit decrease	Illumina [498648]	N
1718	chr5	148615945	148615946	rs1109114	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q32	ABLIM3	rs1109114-C	0.578	4E-7	(EA, men)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1719	chr5	148706298	148706299	rs10044242	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q32	AFAP1L1	rs10044242-G	0.0050	9E-6	(Diet protein )	0.02	[NR] g/d increase	Illumina [899892]	N
1720	chr5	148808001	148808002	rs78823151	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q32	NR	rs78823151-?	NR	8E-6	(EA)	0.6201	[0.35-0.89] unit decrease	Illumina [up to 11892802] (imputed)	N
1721	chr5	148904091	148904092	rs10058728	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	5q32	CSNK1A1	rs10058728-T	0.98	5E-9		2.04	[1.61-2.56]	Affymetrix [666141]	N
1722	chr5	149036975	149036976	rs17710780	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	5q32	FLJ41603	rs17710780-T	0.86	4E-6	(remission - 12 weeks)	1.662	[1.45-1.88]	Affymetrix, Illumina [1200000] (imputed)	N
1722	chr5	149142066	149142067	rs9285640	22890011	Frazier-Wood AC	2012-08-09	Pharmacogenet Genomics	Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.	Response to fenofibrate	817 European ancestry individuals	NA	5q32	PPARC1B	rs9285640-G	NR	3E-7	(HDL diameter)	29.95	[18.62-41.28] unit decrease	Affymetrix [~ 2543887] (imputed)	N
1723	chr5	149210847	149210848	rs32579	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	5q32	PPARGC1B	rs32579-A	NR	4E-6		0.11	[0.07-0.15] tanning ability score decrease	Illumina [528173]	N
1723	chr5	149213455	149213456	rs32576	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q32	PPARGC1B	rs32576-G	0.391	5E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1724	chr5	149406732	149406733	rs2304069	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	5q32	NR	rs2304069-?	NR	7E-6	(progression)			Illumina [NR]	N
1726	chr5	149623364	149623365	rs4958456	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q32	CAMK2A	rs4958456-A	0.092	5E-7	(Urinary free dopamine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
1728	chr5	149825869	149825870	rs13177918	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q33.1	RPS14	rs13177918-T	0.20	8E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1731	chr5	150223386	150223387	rs13361189	17554261	Parkes M	2007-06-06	Nat Genet	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.	Crohn's disease	1,748 cases, 2,938 controls	1,182 European ancestry cases, 2,024 European ancestry controls	5q33.1	IRGM	rs13361189-?	0.08	2E-10		1.38	[1.15-1.66]	Affymetrix [see WTCCC]	N
1731	chr5	150240075	150240076	rs1000113	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	5q33.1	IRGM	rs1000113-T	0.07	3E-7		1.54	[1.31-1.82]	Affymetrix [469557]	N
1731	chr5	150258866	150258867	rs11747270	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	5q33.1	IRGM	rs11747270-G	0.09	3E-16		1.33	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1731	chr5	150270419	150270420	rs7714584	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	5q33.1	IRGM	rs7714584-G	0.088	8E-19		1.37	[1.28-1.47]	Affymetrix, Illumina [953241] (imputed)	N
1731	chr5	150277908	150277909	rs11741861	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q33.1	NR	rs11741861-G	0.07656	7E-8	(EA)	1.128044	[1.08-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1731	chr5	150277908	150277909	rs11741861	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q33.1	NR	rs11741861-G	0.07656	6E-44	(EA)	1.3292114	[1.29-1.37]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1731	chr5	150277908	150277909	rs11741861	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	5q33.1	TNIP1, IRGM, ZNF300P1	rs11741861-G	0.093	3E-37		1.249	[1.186-1.314]	Affymetrix, Illumina [1230000] (imputed)	N
1731	chr5	150323427	150323428	rs17800987	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q33.1	NR	rs17800987-?	NR	2E-31	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1732	chr5	150440096	150440097	rs2233287	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	5q33.1	TNIP1	rs2233287-A	0.10	5E-9		1.31	[1.15-1.43]	Illumina [489814]	N
1732	chr5	150450235	150450236	rs4958881	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	5q33.1	TNIP1	rs4958881-G	0.09	3E-10		1.73	[1.46-2.06]	Illumina [274256]	N
1732	chr5	150458145	150458146	rs10036748	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	5q33.1	TNIP1	rs10036748-T	0.74	3E-6		1.25		Illumina [2100739] (imputed)	N
1732	chr5	150458145	150458146	rs10036748	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	5q33.1	TNIP1	rs10036748-A	0.76	2E-9		1.23	[1.15-1.33]	Illumina [493955]	N
1732	chr5	150461048	150461049	rs960709	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	5q33.1	TNIP1	rs960709-?	NR	2E-8		1.212	[NR]	Illumina [NR]	N
1732	chr5	150467188	150467189	rs2233278	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	5q33.1	ANXA6, TNIP1	rs2233278-A	NR	1E-18		1.647	[1.557-1.743]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1733	chr5	150473673	150473674	rs999556	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		5q33.1	intergenic	rs999556-?	0.2722	1E-15			[NR]	Affymetrix, Illumina [152234]	N
1733	chr5	150478317	150478318	rs17728338	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.1	TNIP1, ANXA6	rs17728338-A	0.10115	3E-7	(Chinese)	1.54	[1.31-1.82]	Illumina [up to 4778154] (imputed)	N
1733	chr5	150478317	150478318	rs17728338	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.1	TNIP1, ANXA6	rs17728338-A	0.054	4E-14	(EA)	1.64	[1.44-1.86]	Illumina [up to 4778154] (imputed)	N
1733	chr5	150478317	150478318	rs17728338	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.1	TNIP, ANXA6	rs17728338-A	0.054	6E-20		1.6	[1.45-1.77]	Illumina [up to 4778154] (imputed)	N
1733	chr5	150478317	150478318	rs17728338	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q33.1	ANXA6, TNIP1	rs17728338-?	NR	4E-38	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
1733	chr5	150478317	150478318	rs17728338	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	5q33.1	TNIP1	rs17728338-A	0.054	1E-20		1.59	[NR]	Perlegen [~ 2500000] (imputed)	N
1733	chr5	150585866	150585867	rs7724774	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	5q33.1	GM2A, CCDC69	rs7724774-G	0.884	7E-6		0.054	[0.03-0.078] unit decrease	Illumina [6150213] (imputed)	N
1733	chr5	150594801	150594802	rs979455	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q33.1	CCDC69	rs979455-G	0.201	9E-6	(Dinner intake, adj EER )	0.04	[NR] kcal increase	Illumina [899892]	N
1735	chr5	150746033	150746034	rs10463316	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	5q33.1	LOC402233	rs10463316-A	0.642	2E-10		0.14	[0.10-0.18] unit increase	Affymetrix [~ 2500000] (imputed)	N
1738	chr5	151184700	151184701	rs1062177	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	5q33.1	NR	rs1062177-T	0.2475	8E-6		0.16	[0.09-0.23] unit decrease	Affymetrix, Illumina [2403520] (imputed)	N
1739	chr5	151344557	151344558	rs170020	21787189	Nyberg F	2011-07-01	Pharmacogenomics	Interstitial lung disease in gefitinib-treated Japanese patients with non-small-cell lung cancer: genome-wide analysis of genetic data.	Interstitial lung disease	80 Japanese ancestry cases, 194 Japanese ancestry controls	NA	5q33.1	intergenic	rs170020-C	NR	4E-6		2.96	[1.80-.5.00]	Illumina, Perlegen [465816]	N
1741	chr5	151568098	151568099	rs294958	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	5q33.1	NMUR2	rs294958-A	0.48	5E-6	(Age 20-81 years)	1.29	[1.16-1.44]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1742	chr5	151734108	151734109	rs1010254	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	5q33.1	NMUR2	rs1010254-C	NR	8E-6		0.182	[0.084-0.280] unit increase	Illumina [~ 2740000] (imputed)	N
1744	chr5	151993103	151993104	rs79212538	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q33.1	NR	rs79212538-T	NR	3E-8		1.15	[NR]	Illumina [7158791] (imputed)	N
1746	chr5	152177120	152177121	rs111294930	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q33.1	NR	rs111294930-A	NR	4E-9		1.09	[NR]	Illumina [7158791] (imputed)	N
1746	chr5	152177120	152177121	rs111294930	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	5q33.1	GRIA1	rs111294930-A	0.782	1E-10		1.094	[1.064-1.124]	Affymetrix, Illumina [9005918] (imputed)	N
1746	chr5	152288452	152288453	rs4262150	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	5q33.1	NMUR2	rs4262150-?	NR	7E-6		1.22	[NR]	Affymetrix [745006]	N
1748	chr5	152494882	152494883	rs6868545	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q33.1	NR	rs6868545-C	NR	7E-7		1.1235955	[NR]	Illumina [7158791] (imputed)	N
1748	chr5	152503937	152503938	rs57917647	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q33.1	NR	rs57917647-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1748	chr5	152504928	152504929	rs1438949	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	5q33.1	intergenic	rs1438949-?	NR	6E-6	(SF8)			Affymetrix [5476100] (imputed)	N
1748	chr5	152540353	152540354	rs2910032	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	5q33.1	intergenic	rs2910032-C	0.469	4E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [9871789]	N
1749	chr5	152608618	152608619	rs2973155	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q33.1	NR	rs2973155-C	NR	1E-9		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1749	chr5	152639676	152639677	rs3112530	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to event)	16,995 European ancestry individuals	NA	5q33.1	GRIA1	rs3112530-G	0.92	7E-6		1.18	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1749	chr5	152654478	152654479	rs17504622	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	5q33.1	GRIA1	rs17504622-T	0.05	3E-9		1.238	[1.17-1.31]	Affymetrix, Illumina [9871789]	N
1750	chr5	152797655	152797656	rs12522290	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q33.2	NR	rs12522290-C	NR	5E-8		1.08	[NR]	Illumina [7158791] (imputed)	N
1751	chr5	152899531	152899532	rs13170232	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q33.2	NR	rs13170232-T	NR	5E-8		1.098901	[NR]	Illumina [7158791] (imputed)	N
1751	chr5	152940404	152940405	rs10065813	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q33.2	GRIA1	rs10065813-A	0.078	8E-6	(NEFA )	0.03	[NR] mmol/L increase	Illumina [899892]	N
1751	chr5	152951199	152951200	rs12153160	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Middle childhood and early adolescence aggressive behavior	16,311 European ancestry individuals	NA	5q33.2	GRIA1	rs12153160-A	0.8386	5E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
1752	chr5	152979553	152979554	rs12658202	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	5q33.2	AMPA1, GRIA1	rs12658202-?	0.45	9E-6	(height)	0.11	[0.06-0.16] mm increase	Illumina [316730]	N
1752	chr5	152991397	152991398	rs1493383	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	5q33.2	GRIA1	rs1493383-?		8E-6	(overall survival)	1.81	[1.39-2.35]	Illumina [729737]	N
1752	chr5	153057547	153057548	rs12189362	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	5q33.2	GRIA1	rs12189362-?	0.12	3E-10	(Recessive)	1.5	[1.32-1.69]	Affymetrix [319222]	N
1753	chr5	153170373	153170374	rs4958351	20592726	Chen SH	2010-06-30	Clin Pharmacol Ther	Genetic variations in GRIA1 on chromosome 5q33 related to asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	211 European ancestry child cases, 40 Black child cases, 46 Hispanic child cases, 4 Asian ancestry child cases, 21 child cases	99 European ancestry child cases, 33 Black child cases, 24 Hispanic child cases, 2 Asian ancestry child cases, 5 child cases	5q33.2	GRIA1	rs4958351-A	0.27	4E-7		1.75	[1.41-2.17]	Affymetrix [364033]	N
1756	chr5	153509595	153509596	rs2033195	21701570	Ng MC	2011-06-23	Obesity (Silver Spring)	Genome-wide association of BMI in African Americans.	Body mass index	1,715 African American individuals	3,274 African American individuals	5q33.2	MFAP3, GALNT10	rs2033195-C	0.57	6E-6		0.094	[0.05-0.13] s.d. increase	Affymetrix [746626]	N
1756	chr5	153537892	153537893	rs7715256	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q33.2	GALNT10	rs7715256-G	0.422	9E-9		0.017	[0.011-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1756	chr5	153537892	153537893	rs7715256	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q33.2	GALNT10	rs7715256-G	0.421	2E-7	(EA)	0.016	[0.01-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1756	chr5	153537892	153537893	rs7715256	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	5q33.2	GALNT10	rs7715256-G	0.42	6E-6	(EA, women)	0.018	[0.01-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1756	chr5	153543465	153543466	rs7708584	23583978	Monda KL	2013-04-14	Nat Genet	A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.	Body mass index	37,956 African American individuals, 1,188 Nigerian ancestry individuals	27,661 African America/Afro-Caribbean individuals, 4,607 Sub-Saharan African ancestry individuals, 123,706 European ancestry inidividuals	5q33.2	GALNT10	rs7708584-A	0.42	5E-14		0.021	[0.012-0.030] unit increase	Affymetrix, Illumina [3283202] (imputed)	N
1756	chr5	153547408	153547409	rs7701886	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	5q33.2	GALNT10	rs7701886-A	0.58	5E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1756	chr5	153606931	153606932	rs2081015	25898001	Dong C	2015-04-16	Atherosclerosis	Genetic variants in LEKR1 and GALNT10 modulate sex-difference in carotid intima-media thickness: A genome-wide interaction study.	Carotid artery intima media thickness (sex interaction)	931 Hispanics individuals	153 European ancestry individuals, 257 Black individuals	5q33.2	GALNT10	rs2081015-T	0.43	5E-6	(Model 1, Hispanics)	0.035	[0.019-0.051] unit decrease	Affymetrix [731037]	N
1756	chr5	153606931	153606932	rs2081015	25898001	Dong C	2015-04-16	Atherosclerosis	Genetic variants in LEKR1 and GALNT10 modulate sex-difference in carotid intima-media thickness: A genome-wide interaction study.	Carotid artery intima media thickness (sex interaction)	931 Hispanics individuals	153 European ancestry individuals, 257 Black individuals	5q33.2	GALNT10	rs2081015-T	0.41	5E-7	(Model 1)	0.033	[0.019-0.047] unit decrease	Affymetrix [731037]	N
1757	chr5	153680746	153680747	rs11740474	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q33.2	NR	rs11740474-T	NR	5E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1757	chr5	153680746	153680747	rs11740474	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	5q33.2	GALNT10	rs11740474-T	0.379	3E-8		1.0615711	[1.04-1.08]	Affymetrix, Illumina [9005918] (imputed)	N
1758	chr5	153811489	153811490	rs10037670	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	5q33.2	GALNT10	rs10037670-G	0.208	4E-6	(Illicit drug use)			Illumina [527829]	N
1758	chr5	153837105	153837106	rs148763909	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		5q33.2	SAP30L	rs148763909-?	0.03	1E-8		0.15	unit decrease	Illumina [NR] (imputed)	N
1758	chr5	153865728	153865729	rs6580083	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	QRS duration	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	5q33.2	HAND1, SAP30L	rs6580083-G	0.30	1E-6		0.85	[0.50-1.20] unit decrease	Affymetrix [2100000] (imputed)	N
1760	chr5	154056079	154056080	rs114403726	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (age at onset)	5,148 European ancestry users	NA	5q33.2	NR	rs114403726-A		6E-6		0.44	[0.26-0.62] unit increase	NR [5896100] (imputed)	N
1763	chr5	154437260	154437261	rs460626	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	5q33.2	KIF4B, SGCD	rs460626-G	0.07718	8E-6	(Yun)	0.7899	unit increase	Illumina [up to 528294]	N
1769	chr5	155202527	155202528	rs11134474	22006218	Yoon D	2011-10-18	Hum Genet	Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.	Smoking behavior	8,842 Korean ancestry individuals	1,366 African American individuals, 671 European ancestry individuals	5q33.2	intergenic	rs11134474-?	NR	8E-6				Affymetrix [352228]	N
1769	chr5	155302581	155302582	rs1432723	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q33.2	SGCD	rs1432723-G	0.447	9E-6	(Amylin )	0.03	[NR] pM increase	Illumina [899892]	N
1770	chr5	155394229	155394230	rs17053082	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	5q33.2	intergenic	rs17053082-T	0.1	4E-7	(Punjabi Sikhs)	1.49	[1.28 - 1.73]	Illumina [1232008] (imputed)	N
1770	chr5	155394229	155394230	rs17053082	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	5q33.2	intergenic	rs17053082-T	0.1	4E-7	(All Punjabi)	1.49	[1.28 - 1.73]	Illumina [1232008] (imputed)	N
1771	chr5	155500991	155500992	rs4704970	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (age of onset)	978 European ancestry cases, 883 European ancestry controls	NA	5q33.2	SGCD	rs4704970-?	0.20	7E-6			[NR]	Illumina [551642]	N
1773	chr5	155753913	155753914	rs7717393	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Egg allergy	217 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 688 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	5q33.3	SGCD	rs7717393-?	NR	1E-6				Illumina [6459842] (imputed)	N
1773	chr5	155775074	155775075	rs12652777	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q33.3	NR	rs12652777-T	NR	9E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1775	chr5	156013830	156013831	rs7710178	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	5q33.3	SGCD	rs7710178-T	0.162	2E-6	(Categorical PC20)	0.129	[NR] unit decrease	Illumina [546355]	N
1775	chr5	156013830	156013831	rs7710178	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	5q33.3	SGCD	rs7710178-?	0.838	6E-6	(Dichotomous PC20)	1.25	[NR]	Illumina [546355]	N
1776	chr5	156139568	156139569	rs157350	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	5q33.3	SGCD	rs157350-?	0.11	6E-6	(hip circumference)	0.31	[0.18-0.44] mm decrease	Illumina [316730]	N
1776	chr5	156139568	156139569	rs157350	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	5q33.3	SGCD	rs157350-?	0.11	4E-6	(brachial circumference)	0.31	[0.18-0.44] mm decrease	Illumina [316730]	N
1776	chr5	156152919	156152920	rs2642660	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	5q33.3	SGCD	rs2642660-C	0.187	3E-6	(Continous PC20)	0.05	[NR] unit decrease	Illumina [546355]	N
1776	chr5	156182047	156182048	rs11135380	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	5q33.3	NR	rs11135380-?		9E-6	(AA)			Illumina [up to 524000]	N
1778	chr5	156390296	156390297	rs6882076	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	5q33.3	TIMD4	rs6882076-T	0.36	2E-15		0.029	[NR] mg/dL decrease	NR [NR] (imputed)	N
1778	chr5	156390296	156390297	rs6882076	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	5q33.3	TIMD4	rs6882076-T	0.36	3E-31		0.046	[NR] unit decrease	NR [NR] (imputed)	N
1778	chr5	156390296	156390297	rs6882076	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	5q33.3	TIMD4	rs6882076-T	0.36	5E-41		0.051	[NR] unit decrease	NR [NR] (imputed)	N
1778	chr5	156390296	156390297	rs6882076	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	5q33.3	TIMD4, HAVCR1	rs6882076-G	0.36	4E-12		2.63	[1.87-3.39] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1778	chr5	156390296	156390297	rs6882076	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	5q33.3	TIMD4, HAVCR1	rs6882076-T	0.35	2E-22		1.67	[1.3-2.04] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1778	chr5	156390296	156390297	rs6882076	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	5q33.3	TIMD4, HAVCR1	rs6882076-T	0.35	7E-28		1.98	[1.59-2.37] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1778	chr5	156398168	156398169	rs1501908	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	5q33.3	TIMD4, HAVCR1	rs1501908-G	0.37	1E-11		0.07	[0.03-0.11] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1778	chr5	156464241	156464242	rs2036402	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	Hypertriglyceridemia	1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls	5q33.3	TIMD4, HAVCR1, HAVCR2	rs2036402-?	0.45	3E-6		1.23	[1.15-1.31]	Illumina [1361436] (imputed)	N
1778	chr5	156479322	156479323	rs1553318	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	5q33.3	TIMD4, HAVCR1	rs1553318-C	0.65	2E-11		0.042	[0.03-0.054] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1778	chr5	156479322	156479323	rs1553318	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	5q33.3	TIMD4, HAVCR1	rs1553318-C	0.65	2E-15		0.05	[0.038-0.062] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1778	chr5	156479322	156479323	rs1553318	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	5q33.3	TIMD4, HAVCR1	rs1553318-C	0.65	2E-21		0.058	[0.046-0.07] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1779	chr5	156506651	156506652	rs193098517	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	5q33.3	intergenic	rs193098517-A	0.008	8E-7		0.593	[0.36-0.83] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1779	chr5	156608999	156609000	rs411174	21368711	Alliey-Rodriguez N	2011-03-02	Psychiatr Genet	Genome-wide association study of personality traits in bipolar patients.	Personality traits in bipolar disorder	1,951 European ancestry cases	NA	5q33.3	ITK	rs411174-?	NR	1E-6	(ZKPQ-neuroticism anxiety)			Affymetrix [702866]	N
1781	chr5	156815762	156815763	rs871012	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q33.3	NR	rs871012-C	0.44603092920748	5E-6	(IGP26)	0.1473	[0.084-0.21] unit increase	Illumina [~ 2500000] (imputed)	N
1782	chr5	156932375	156932376	rs2277027	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	5q33.3	ADAM19	rs2277027-?	NR	2E-11	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1782	chr5	156932375	156932376	rs2277027	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	5q33.3	ADAM19	rs2277027-A	0.71	1E-10	(FEV1/FVC)	0.38	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
1782	chr5	156938326	156938327	rs6860540	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q33.3	ADAM19	rs6860540-?	NR	5E-6	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1782	chr5	156942284	156942285	rs11740562	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	5q33.3	NR	rs11740562-?	NR	1E-6		1.5638	[NR]	Affymetrix [722112]	N
1782	chr5	156945147	156945148	rs58873874	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	5q33.3	NR	rs58873874-?	NR	3E-6				NR [up to 8466825] (imputed)	N
1782	chr5	156970143	156970144	rs77372450	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	5q33.3	NR	rs77372450-?	NR	6E-6				NR [up to 8466825] (imputed)	N
1785	chr5	157410277	157410278	rs11958404	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q33.3	NR	rs11958404-T	0.113988281514477	8E-6	(IGP49)	0.231	[0.13-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
1785	chr5	157410277	157410278	rs11958404	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q33.3	NR	rs11958404-T	0.113988281514477	1E-6	(IGP9)	0.2522	[0.15-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
1788	chr5	157683524	157683525	rs11957368	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	5q33.3	LOC100130177	rs11957368-C		4E-6		0.15	[0.09-0.21] unit increase	Affymetrix [~ 2500000] (imputed)	N
1788	chr5	157804456	157804457	rs9313772	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	5q33.3	EBF1	rs9313772-T	0.32	1E-11	(Mean Arterial Pressure)	0.335	[0.24-0.44] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1789	chr5	157818739	157818740	rs74620148	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	5q33.3	NR	rs74620148-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
1789	chr5	157820601	157820602	rs2149954	24688116	Deelen J	2014-03-31	Hum Mol Genet	Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.	Longevity (90 years and older)	5,406 European ancestry cases, 15,112 European ancestry controls	7,330 European ancestry cases, 61,156 European ancestry controls	5q33.3	EBF1	rs2149954-T	0.352	2E-8		1.1	[1.06-1.74]	Illumina [2470825] (imputed)	N
1789	chr5	157820601	157820602	rs2149954	24688116	Deelen J	2014-03-31	Hum Mol Genet	Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.	Longevity (85 years and older)	7,729 European ancestry cases, 16,121 European ancestry controls	13,060 European ancestry cases, 61,156 European ancestry controls	5q33.3	EBF1	rs2149954-T	0.352	4E-6		1.07	[1.04-1.09]	Illumina [2480356] (imputed)	N
1789	chr5	157845401	157845402	rs11953630	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	5q33.3	EBF1	rs11953630-T	0.37	3E-11		0.412	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1789	chr5	157845401	157845402	rs11953630	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	5q33.3	EBF1	rs11953630-T	0.37	2E-7		0.052	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1789	chr5	157845401	157845402	rs11953630	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	5q33.3	EBF1	rs11953630-T	0.37	4E-13		0.281	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1789	chr5	157917274	157917275	rs4563609	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	5q33.3	EBF1	rs4563609-A	0.65	3E-7		1.2	[NR]	Illumina [8207076] (imputed)	N
1791	chr5	158111072	158111073	rs1421898	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q33.3	EBF1	rs1421898-?	NR	2E-6	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1791	chr5	158175668	158175669	rs13170526	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q33.3	EBF1	rs13170526-C	0.039	4E-6	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1792	chr5	158244082	158244083	rs1432679	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	5q33.3	EBF1	rs1432679-C	0.435	7E-6		1.08	[1.04-1.11]	Illumina [NR]	N
1792	chr5	158244082	158244083	rs1432679	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	5q33.3	EBF1	rs1432679-C	0.43	2E-14		1.07	[1.05-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1792	chr5	158252437	158252438	rs17056278	25271088	Singh A	2014-10-01	Eur J Hum Genet	Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.	Hip circumference (psychosocial stress interaction)	2,460 European ancestry individuals, 548 Chinese ancestry individuals,   1,547 African American individuals, 1,250 Hispanic individuals	3,157 European ancestry individuals	5q33.3	EBF1	rs17056278-C	0.07	3E-8	(EA)			Affymetrix [528298]	N
1793	chr5	158424390	158424391	rs10040979	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)	184 Japanese ancestry cases, 459 Japanese ancestry controls	NA	5q33.3	EBF1	rs10040979-G	0.618	5E-7	(Recessive model)	1.452	[1.12-1.883]	Illumina [733202]	N
1795	chr5	158603570	158603571	rs1473247	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	5q33.3	NR	rs1473247-C	NR	3E-7		0.01	[0.004-0.012] fl decrease	Affymetrix, Illumina [~ 2110000] (imputed)	N
1795	chr5	158604962	158604963	rs10076782	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	5q33.3	RNF145	rs10076782-A	NR	4E-8		0.007	[0.005-0.009] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1795	chr5	158658011	158658012	rs10515778	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q33.3	CTB-11I22.1	rs10515778-?	NR	2E-14	(Psoriasis)	1.29	[1.21-1.38]	Affymetrix, Illumina [~ 5200000]	N
1795	chr5	158687280	158687281	rs11135056	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q33.3	UBLCP1	rs11135056-?	NR	1E-25	(Psoriasis)	1.45	[1.35-1.56]	Affymetrix, Illumina [~ 5200000]	N
1795	chr5	158688662	158688663	rs34411452	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q33.3	NR	rs34411452-T	NR	4E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1795	chr5	158717788	158717789	rs2082412	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	5q33.3	IL12B	rs2082412-G	0.80	2E-28		1.44	[NR]	Perlegen [~ 2500000] (imputed)	N
1796	chr5	158749087	158749088	rs2853694	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.3	IL12B	rs2853694-G	0.495	5E-10	(conditional on rs7709212, rs4921493)	1.23	[1.16-1.29]	Illumina [up to 4778154] (imputed)	N
1796	chr5	158749087	158749088	rs2853694	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.3	IL12B	rs2853694-G	0.495	2E-8	(EA, conditional on rs7709212, rs4921493)	1.25	[1.17-1.32]	Illumina [up to 4778154] (imputed)	N
1796	chr5	158750768	158750769	rs3213094	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	5q33.3	IL12B	rs3213094-?	NR	5E-11		1.39	[1.26-1.53]	Illumina [535475]	N
1796	chr5	158750768	158750769	rs3213094	19169255	Zhang XJ	2009-01-25	Nat Genet	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	Psoriasis	1,139 Han Chinese ancestry cases, 1,132 Han Chinese ancestry controls	5,721 Chinese ancestry cases, 7,340 Chinese ancestry controls	5q33.3	IL12B	rs3213094-A	0.45	3E-26		1.28	[1.23-1.35]	Illumina [494902]	N
1796	chr5	158759899	158759900	rs2546890	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q33.3	AC008697.1	rs2546890-?	NR	3E-35	(Psoriasis)	1.39	[1.32-1.47]	Affymetrix, Illumina [~ 5200000]	N
1796	chr5	158759899	158759900	rs2546890	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	5q33.3	IL12B	rs2546890-A	0.52	8E-8		1.16	[NR]	Affymetrix, Illumina [2529394]	N
1796	chr5	158759899	158759900	rs2546890	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	5q33.3	IL12B	rs2546890-A	NR	1E-11		1.11	[1.1-1.13]	Illumina [465434]	N
1796	chr5	158759899	158759900	rs2546890	20953188	Ellinghaus E	2010-10-17	Nat Genet	Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.	Psoriasis	472 European ancestry cases, 1,146 European ancestry controls	2,668, European ancestry cases, 762 French Canadian founder population cases, 2,585 cases, 3,485 European ancestry controls, 994 French Canadian founder population controls, 2,412 controls	5q33.3	IL12B	rs2546890-A	0.56	1E-20		1.54	[1.32-1.79]	Illumina [2339118] (imputed)	N
1796	chr5	158764176	158764177	rs7709212	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.3	IL12B	rs7709212-T	0.657	3E-20	(EA)	1.37	[1.28-1.47]	Illumina [up to 4778154] (imputed)	N
1796	chr5	158764176	158764177	rs7709212	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.3	IL12B	rs7709212-T	0.657	2E-30		1.38	[1.31-1.46]	Illumina [up to 4778154] (imputed)	N
1796	chr5	158764176	158764177	rs7709212	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.3	IL12B	rs7709212-T	0.5189	1E-11	(Chinese)	1.4	[1.27-1.55]	Illumina [up to 4778154] (imputed)	N
1796	chr5	158764176	158764177	rs7709212	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.3	IFIH1	rs3747517-T	0.682	5E-9	(Chinese, conditional on rs1990760)	1.25	[1.16-1.35]	Illumina [up to 4778154] (imputed)	N
1796	chr5	158787384	158787385	rs6556412	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q33.3	NR	rs6556412-A	0.326	1E-32	(EA)	1.1336317	[1.11-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1796	chr5	158787384	158787385	rs6556412	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	5q33.3	IL12B	rs6556412-A	0.332	5E-14		1.18	[1.13-1.24]	Affymetrix, Illumina [953241] (imputed)	N
1796	chr5	158814532	158814533	rs10045431	20570966	McGovern DP	2010-06-22	Hum Mol Genet	Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.	Crohn's disease	896 European ancestry cases, 3,204 European ancestry controls	1,174 European ancestry cases, 357 European ancestry controls	5q33.3	IL12B	rs10045431-?	NR	7E-8		1.45	[1.27-1.64]	Illumina [304825]	N
1796	chr5	158814532	158814533	rs10045431	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	5q33.3	IL12B	rs10045431-C	0.71	4E-13		1.11	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1796	chr5	158818744	158818745	rs6556416	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	5q33.3	IL12B	rs6556416-C	0.67	2E-8				Illumina [2223620] (imputed)	N
1796	chr5	158820843	158820844	rs9313808	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q33.3	NR	rs9313808-G	0.83	1E-25	(EA)	1.1528302		Affymetrix, Illumina [~ 9000000] (imputed)	N
1796	chr5	158822644	158822645	rs6887695	17554261	Parkes M	2007-06-06	Nat Genet	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.	Crohn's disease	1,748 cases, 2,938 controls	1,182 European ancestry cases, 2,024 European ancestry controls	5q33.3	IL12B	rs6887695-?	0.32	9E-6		1.26	[1.12-1.41]	Affymetrix [see WTCCC]	N
1796	chr5	158826791	158826792	rs6871626	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	5q33.3	IL12B	rs6871626-A	0.337	1E-42		1.181	[1.146-1.216]	Affymetrix, Illumina [1230000] (imputed)	N
1796	chr5	158826791	158826792	rs6871626	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	5q33.3	IL12B	rs6871626-A	0.33	1E-21		1.17	[1.12-1.22]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1796	chr5	158827768	158827769	rs56167332	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q33.3	NR	rs56167332-A	0.3375	7E-27	(EA)	1.1518488	[1.13-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1796	chr5	158827768	158827769	rs56167332	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q33.3	NR	rs56167332-A	0.3375	7E-50	(EA)	1.1686567	[1.15-1.19]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1796	chr5	158827768	158827769	rs56167332	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q33.3	NR	rs56167332-A	0.3375	2E-41	(EA)	1.1859788	[1.16-1.21]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1796	chr5	158829526	158829527	rs12188300	20953186	Huffmeier U	2010-10-17	Nat Genet	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	Psoriatic arthritis	572 European ancestry cases, 888 European ancestry controls	Up to 1,761 European ancestry cases, 3,727 European ancestry controls	5q33.3	IL12B	rs12188300-T	0.08	7E-17		1.7	[1.50-1.93]	Affymetrix [1585307] (imputed)	N
1796	chr5	158836106	158836107	rs4921493	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.3	IL12B_2nd	rs4921493-T	0.641	3E-11	(EA, conditional on rs7709212)	1.26	[1.19-1.32]	Illumina [up to 4778154] (imputed)	N
1796	chr5	158836106	158836107	rs4921493	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	5q33.3	IL12B	rs4921493-T	0.641	7E-13	(conditional on rs7709212)	1.23	[1.17-1.29]	Illumina [up to 4778154] (imputed)	N
1796	chr5	158843234	158843235	rs6863015	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	5q33.3	IL12B	rs6863015-C	0.696	2E-21		1.25	[NR]	Illumina [4577171] (imputed)	N
1797	chr5	158863386	158863387	rs73818525	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q33.3	AC008703.1	rs73818525-?	NR	5E-11	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1797	chr5	158904312	158904313	rs12657996	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	5q33.3	IL12B	rs12657996-?	NR	9E-6				Affymetrix, Illumina [~ 1300000]	N
1797	chr5	158918893	158918894	rs10866713	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	5q33.3	IL12B	rs10866713-A	0.22	7E-7		1.17	[NR]	Affymetrix, Illumina [2529394]	N
1798	chr5	159007777	159007778	rs10065906	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	5q33.3	intergenic	rs10065906-C	0.308	5E-8	(partial response - 2 weeks)	1.4712	[1.33-1.61]	Affymetrix, Illumina [1200000] (imputed)	N
1798	chr5	159007777	159007778	rs10065906	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	5q33.3	MIR548D2	rs10065906-C	0.3622876	2E-6	(partial response - SSRI treated - 2 weeks)	1.5298	[1.36-1.7]	Affymetrix, Illumina [1200000] (imputed)	N
1798	chr5	159007777	159007778	rs10065906	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	5q33.3	MIR548D2	rs10065906-C	0.332	2E-6	(% improvement - 2 weeks)	1.1655	[1.11-1.22]	Affymetrix, Illumina [1200000] (imputed)	N
1799	chr5	159248013	159248014	rs17057166	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	5q33.3	AC011343.1	rs17057166-?		2E-7	(disease-free survival)	5.56	[2.91-10.64]	Illumina [729737]	N
1800	chr5	159367970	159367971	rs11750092	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	5q33.3	intergenic	rs11750092-T	0.16	7E-6		1.07	[1.04-1.11]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1804	chr5	159820930	159820931	rs10515808	23643386	Hatoum IJ	2013-05-02	Am J Hum Genet	Weight loss after gastric bypass is associated with a variant at 15q26.1.	Weight loss (gastric bypass surgery)	693 European ancestry individuals	327 European ancestry individuals	5q33.3	C1QTNF2	rs10515808-A	NR	4E-7		3.08	[1.88-4.28] unit decrease	Illumina [1943170] (imputed)	N
1804	chr5	159849585	159849586	rs1895320	22791750	Chen G	2012-07-12	Hum Mol Genet	Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.	Insulin-related traits	927 African American non-diabetic individuals	570 West African ancestry non-diabetic individuals	5q33.3	PTTG1	rs1895320-C	0.12	6E-6	(FI)	0.22	[0.12-0.32] unit increase	Affymetrix [5396838] (imputed)	N
1804	chr5	159879977	159879978	rs2431697	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	5q33.3	PTTG1	rs2431697-?	0.56	2E-6	(anti-dsDNA +)	1.32	[1.18-1.47]	Illumina [421318] (imputed)	N
1805	chr5	159972020	159972021	rs1592749	20014019	Dubinsky MC	2010-08-01	Inflamm Bowel Dis	Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.	Response to anti-TNF alpha therapy in inflammatory bowel disease	94 pediatric cases	NA	5q34	intergenic	rs1592749-?	NR	1E-6		5.949	[NR]	Illumina [301742]	N
1809	chr5	160469638	160469639	rs17504106	26114229	Ashley-Koch AE	2015-06-12	J Affect Disord	Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.	Post-traumatic stress disorder	949 non-Hispanic black individuals, 759 European ancestry individuals	NA	5q34	intergenic	rs17504106-?	NR	5E-6	AA	2.97	[NR]	Illumina [up to 5616481] (imputed)	N
1810	chr5	160624457	160624458	rs164368	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	5q34	Intergenic	rs164368-T	0.785	6E-6	(Genotype model)	1.12	[0.89-1.40]	Illumina [508761]	N
1821	chr5	162083517	162083518	rs7711337	22843504	Anney R	2012-07-26	Hum Mol Genet	Individual common variants exert weak effects on the risk for autism spectrum disorderspi.	Autism	1,419 European ancestry cases from 1416 families	1,314 European ancestry cases from 1301 families	5q34	intergenic	rs7711337-?	NR	8E-7	(Spectrum, all)	1.22	[1.12-1.32]	Illumina [947233]	N
1821	chr5	162107378	162107379	rs6874604	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q34	NR	rs6874604-?	NR	2E-7		0.4952	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1821	chr5	162107378	162107379	rs6874604	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5q34	NR	rs6874604-?	NR	3E-7		0.4305	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1825	chr5	162585644	162585645	rs12187751	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	5q34	intergenic	rs12187751-?		3E-6	(overall survival)	2.48	[1.70-3.64]	Illumina [729737]	N
1828	chr5	162998514	162998515	rs294588	22773346	Edwards DR	2012-07-07	Age (Dordr)	Linkage and association of successful aging to the 6q25 region in large Amish kindreds.	Aging	263 Amish individuals aged 80 years or older	NA	5q34	LOC391844, MAT2B	rs294588-?	0.26	1E-6				Affymetrix [630309]	N
1829	chr5	163100679	163100680	rs292404	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	5q34	LOC100419716, MAT2B	rs292404-?		2E-6	(males)			Illumina [1211988] (imputed)	N
1835	chr5	163889279	163889280	rs6556756	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Breast cancer	58 cases, 665 controls	NA	5q34	intergenic	rs6556756-?	NR	5E-7				Affymetrix [70897]	N
1836	chr5	164055677	164055678	rs11745512	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	5q34	MAT2B	rs11745512-A	NR	6E-6		4.516	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1836	chr5	164056593	164056594	rs17065898	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 24:0)	7,915 European ancestry individuals	NA	5q34	MAT2B	rs17065898-T	NR	9E-7		4.914	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1839	chr5	164465889	164465890	rs56118546	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	5q34	NR	rs56118546-T	NR	1E-6		0.039	[0.023-0.055] unit decrease	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
1840	chr5	164576967	164576968	rs72817562	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	5q34	NR	rs72817562-T	NR	2E-6		0.035	[0.019-0.051] unit increase	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
1842	chr5	164764086	164764087	rs1145652	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	5q34	MAT2B	rs1145652-A	NR	8E-8	(EPA)	0.04	[NR] % increase	Affymetrix, Illumina [NR]	N
1844	chr5	165063883	165063884	rs958994	20009918	Shrestha S	2010-01-01	AIDS	A genome-wide association study of carotid atherosclerosis in HIV-infected men.	Carotid atherosclerosis in HIV infection	177 European ancestry individuals	NA	5q34	intergenic	rs958994-G	0.27	8E-6	(common cIMT)			Illumina [311194]	N
1844	chr5	165107099	165107100	rs516732	25979521	de Jong K	2015-06-05	J Allergy Clin Immunol	Genome-wide interaction study of gene-by-occupational exposure and effects on FEV<sub>1</sub> levels.	Forced expiratory volume in 1 second (environmental interaction)	12,400 individuals	1,436 individuals	5q34	ODZ2	rs516732-C	0.47	1E-7	Gases and fumes	121.6	[NR] unit decrease	Illumina [up to 221663]	N
1844	chr5	165117460	165117461	rs77421486	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q34	NR	rs77421486-C	NR	5E-6		1.1235955	[NR]	Illumina [7158791] (imputed)	N
1844	chr5	165132973	165132974	rs262741	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	5q34	intergenic	rs262741-G	0.5416	5E-6	(Ordinal I)	0.2447	[0.14-0.35] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1846	chr5	165377698	165377699	rs9313296	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Weight	1,780 Filipino ancestry females	NA	5q34	intergenic	rs9313296-C	0.01	7E-7		10.0	[6.07-13.93] kg increase	Affymetrix [2073674] (imputed)	N
1846	chr5	165377698	165377699	rs9313296	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Waist circumference	1,779 Filipino ancestry females	NA	5q34	intergenic	rs9313296-C	0.01	6E-6		9.4	[5.35-13.45] cm increase	Affymetrix [2073674] (imputed)	N
1849	chr5	165719649	165719650	rs955423	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index	2,763 Bangladeshi ancestry females, 2,591 Bangladeshi ancestry males	NA	5q34	TENM2	rs955423-A	0.61	3E-7		0.335	[0.21-0.46] kg/m2 increase	Illumina [1208102] (imputed)	N
1851	chr5	165957085	165957086	rs2122554	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	5q34	intergenic	rs2122554-A	0.162	3E-6		0.1	[NR] unit decrease	Illumina [948658]	N
1853	chr5	166318189	166318190	rs3853240	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	5q34	CTB-7E3.1	rs3853240-?	NR	1E-6	(Total LTG and PHT)			Illumina [NR]	N
1854	chr5	166389492	166389493	rs17404956	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	5q34	LOC441114, ODZ2	rs17404956-A	0.90	1E-6		1.16	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
1860	chr5	167210471	167210472	rs2973662	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune response to smallpox vaccine (IL-6)	Up to 512 European ancestry individuals, 199 African American individuals	NA	5q34	ODZ2	rs2973662-A		5E-7	(AA)			Illumina [NR]	N
1860	chr5	167226978	167226979	rs1549309	23636237	Tanaka T	2013-05-01	Am J Clin Nutr	Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.	Dietary macronutrient intake	37,537 European ancestry individuals	33,533 European ancestry individuals	5q34	NR	rs1549309-A	0.17	2E-6	(Carbohydrate)	0.27	[0.15-0.39] % increase	Affymetrix, Illumina [2500000] (imputed)	N
1861	chr5	167370262	167370263	rs9647570	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	5q34	TENM2	rs9647570-G	0.14	1E-11		0.05	[0.036-0.064] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1862	chr5	167500459	167500460	rs13358864	22229870	Karns R	2012-01-09	Ann Hum Genet	Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.	Uric acid levels	1,300 European ancestry individuals	NA	5q34	ODZ2	rs13358864-A	0.10	5E-6		24.09	[NR] umol/L decrease	Affymetrix [2241249] (imputed)	N
1864	chr5	167643544	167643545	rs6885116	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	5q34	ODZ2, WWC1	rs6885116-G	0.078	1E-6	(A. actino)	2.57	[1.76-3.74]	Affymetrix [~ 2500000] (imputed)	N
1864	chr5	167661161	167661162	rs2161300	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	5q34	NR	rs2161300-T	NR	6E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1866	chr5	167911039	167911040	rs244899	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	5q34	RARS	rs244899-?		1E-6				NR [~ 3000000] (imputed)	N
1868	chr5	168250902	168250903	rs2974438	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q34	SLIT3	rs2974438-A	0.203	4E-24		0.037	[0.029-0.045] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1868	chr5	168256239	168256240	rs4282339	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	5q34	SLIT3	rs4282339-A	0.18	4E-8		0.036	[0.022-0.05] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1868	chr5	168256239	168256240	rs4282339	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q34	SLIT3	rs4282339-A	0.2	7E-16		0.036	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1869	chr5	168386088	168386089	rs12188351	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	5q34	SLIT3	rs12188351-?	NR	1E-8	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1872	chr5	168749736	168749737	rs6555855	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	5q35.1	SLIT3	rs6555855-G	0.23	2E-9		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1873	chr5	168899986	168899987	rs13156607	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Waist circumference	1,779 Filipino ancestry females	NA	5q35.1	CCDC99	rs13156607-T	0.11	5E-6		3.91	[2.24-5.58] cm increase	Affymetrix [2073674] (imputed)	N
1874	chr5	169074055	169074056	rs169082	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	5q35.1	DOCK2	rs169082-?	0.48	1E-6	(Leptin)			Illumina [496032]	N
1877	chr5	169461546	169461547	rs3763048	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	5q35.1	NR	rs3763048-C	0.672342024379233	9E-6	(IGP19)	0.1425	[0.08-0.205] unit decrease	Illumina [~ 2500000] (imputed)	N
1878	chr5	169542599	169542600	rs1895302	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)	428 Japanese ancestry cases, 743 Japanese ancestry controls	NA	5q35.1	FOXI1	rs1895302-C	0.478	7E-6	(Dominant model)	1.34	[1.132-1.587]	Illumina [733202]	N
1879	chr5	169624771	169624772	rs13153995	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	5q35.1	LOC257358, MIR378E, AK055811, Mir_548, C5orf58, DL490294, DOCK2, FAM196B, FOXI1, KCNIP1, KCNMB1, LCP2	rs13153995-C	0.2095	3E-6		1.22	[1.11-1.33]	Illumina [7300000] (imputed)	N
1881	chr5	169950393	169950394	rs11957313	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Normalized brain volume	753 European ancestry cases, 883 European ancestry controls	NA	5q35.1	KCNIP1	rs11957313-?	0.13	9E-6			[NR]	Illumina [551642]	N
1883	chr5	170240422	170240423	rs11134654	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	5q35.1	NR	rs11134654-A	0.1735	2E-7		4.6139	[NR] unit increase	Illumina [1200000] (imputed)	N
1887	chr5	170720732	170720733	rs2278255	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q35.1	RANBP17	rs2278255-G	0.06	5E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1888	chr5	170875096	170875097	rs4620037	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q35.1	FGF18	rs4620037-A	0.796	1E-18		0.032	[0.024-0.04] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1888	chr5	170897207	170897208	rs3097847	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q35.1	NR	rs3097847-?	NR	2E-6	(EA)	0.4669	[0.28-0.65] unit decrease	Illumina [up to 11892802] (imputed)	N
1888	chr5	170897207	170897208	rs3097847	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5q35.1	NR	rs3097847-?	NR	1E-6	(EA)	0.3852	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1889	chr5	171015622	171015623	rs6892884	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q35.1	FBXW11	rs6892884-?	NR	4E-8	(Conditioned on rs12153391)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1890	chr5	171076226	171076227	rs254893	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	5q35.1	intergenic	rs254893-A	0.06	6E-6	(DBP)	0.58	[NR] mm Hg decrease	Affymetrix [408775]	N
1890	chr5	171170640	171170641	rs17568725	25705159	Hong Y	2014-12-31	Genomics Inform	Genome-wide association study of hepatitis in korean populations.	Hepatitis	1,500 Korean ancestry cases, 1,500 Korean ancestry controls	NA	5q35.1	intergenic	rs17568725-?	NR	1E-8		1.1111112	[NR]	NR [352000]	N
1891	chr5	171181236	171181237	rs153750	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	5q35.1	FBXW11	rs153750-G	0.62	3E-10		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1891	chr5	171203437	171203438	rs12153391	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	5q35.1	FBXW11	rs12153391-A	0.4	2E-6		0.021	[0.0092-0.0328] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1891	chr5	171203437	171203438	rs12153391	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q35.1	FBXW11	rs12153391-A	0.25	4E-12		0.03	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1891	chr5	171283468	171283469	rs4868126	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q35.1	FBXW11	rs4868126-T	0.395	3E-29		0.036	[0.030-0.042] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1893	chr5	171538743	171538744	rs60188314	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q35.1	NR	rs60188314-?	NR	1E-6		0.4404	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1893	chr5	171538743	171538744	rs60188314	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	5q35.1	NR	rs60188314-?	NR	1E-8		0.4624	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1893	chr5	171559530	171559531	rs17570583	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	5q35.1	intergenic	rs17570583-A	0.08	9E-6		1.23	[1.12-1.35]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1897	chr5	171969347	171969348	rs1347155	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index (change over time)	2,643 Bangladeshi ancestry females, 2,340 Bangladeshi ancestry males	NA	5q35.1	SH3PXD2B, NEURL1B	rs1347155-T	0.042	9E-8	(females)	0.559	[0.36-0.76] unit increase	Illumina [1208102] (imputed)	N
1897	chr5	171969347	171969348	rs1347155	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index (change over time)	2,643 Bangladeshi ancestry females, 2,340 Bangladeshi ancestry males	NA	5q35.1	NEURL1B, SH3PXD2B	rs1347155-T	0.042	5E-7		0.341	[0.21-0.47] unit increase	Illumina [1208102] (imputed)	N
1898	chr5	172191051	172191052	rs17658229	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	5q35.1	DUSP1	rs17658229-C	NR	8E-9		0.02	[0.012-0.028] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1899	chr5	172271006	172271007	rs792975	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)	218 Japanese ancestry cases, 364 Japanese controls	NA	5q35.1	ERGIC1	rs792975-T	0.519	8E-6	(Allelic model)	1.746	[1.366-2.232]	Illumina [733202]	N
1899	chr5	172292305	172292306	rs6890783	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	5q35.1	ERGIC1	rs6890783-A	0.01	5E-6	(Age 20-60 years)	6.45	[2.89-14.38]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1899	chr5	172324977	172324978	rs564349	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q35.1	C5orf4, DUSP1	rs564349-G	0.3183	2E-6	(EA)	1.0646768	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1899	chr5	172324977	172324978	rs564349	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q35.1	C5orf4, DUSP1	rs564349-G	0.3183	2E-7	(EA)	1.056796	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1900	chr5	172480335	172480336	rs251253	20062060	Pfeufer A	2010-01-10	Nat Genet	Genome-wide association study of PR interval.	PR interval	28,517 European ancestry individuals	NA	5q35.1	NKX2-5, C5orf41	rs251253-C	0.40	9E-13		1.49	[1.08-1.90] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1901	chr5	172595307	172595308	rs29784	23989729	Feenstra B	2013-08-21	JAMA	Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.	Infantile hypertrophic pyloric stenosis	1,001 European ancestry cases, 2,371 European ancestry controls	925 European ancestry cases, 1,621 European ancestry controls, 738 cases, 697 controls	5q35.1	intergenic	rs29784-T	0.4504	8E-18		1.36	[1.27-1.46]	Illumina [9737928] (imputed)	N
1901	chr5	172595307	172595308	rs29784	22306654	Feenstra B	2012-02-05	Nat Genet	Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.	Infantile hypertrophic pyloric stenosis	1,001 European ancestry cases, 2,401 European ancestry controls	796 European ancestry cases, 876 European ancestry controls	5q35.1	BNIP1, NKX2-5	rs29784-A	0.45	1E-15		1.42	[1.30-1.55]	Illumina [523420]	N
1902	chr5	172650486	172650487	rs10440708	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	5q35.1	NR	rs10440708-?	NR	8E-8	(Latino)	1.502	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1902	chr5	172664162	172664163	rs6882776	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	5q35.1	NKX2-5	rs6882776-G	0.68	2E-12		0.301	[0.20-0.40] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1903	chr5	172873919	172873920	rs7705819	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	5q35.2	SUMO2P6, GAPDHP71	rs7705819-T	0.64	9E-7		0.23	[0.13-0.33] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
1904	chr5	172934897	172934898	rs7722022	19165155	Ling H	2009-01-22	Obesity (Silver Spring)	Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study.	Adiponectin levels	997 European ancestry cases, 989 European ancestry controls	NA	5q35.2	intergenic	rs7722022-?	NR	9E-6				Affymetrix [398625]	N
1904	chr5	172939425	172939426	rs6869841	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	5q35.2	BOD1, FAM44B, LOC285593, STC2	rs6869841-A	0.21	5E-8		1.07	[1.04-1.11]	Illumina [~ 2600000] (imputed)	N
1904	chr5	172983278	172983279	rs6885032	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	5q35.2	NR	rs6885032-G	0.652	2E-6	(EA)	0.049	[0.029-0.069] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1904	chr5	172983278	172983279	rs6885032	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	5q35.2	STC2, BOD1	rs6885032-C	0.36	5E-6	(men)	0.067	[0.038-0.096] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1904	chr5	172984113	172984114	rs889014	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	5q35.2	STC2, BOD1	rs889014-T	0.44	2E-9		0.047	[0.031-0.063] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1904	chr5	172984113	172984114	rs889014	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q35.2	BOD1	rs889014-T	0.36	9E-16		0.03	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1904	chr5	172994623	172994624	rs7733195	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	5q35.2	FAM44B	rs7733195-G	0.65	6E-9		0.066	[0.044-0.088] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1905	chr5	173131456	173131457	rs4868304	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	5q35.2	intergenic	rs4868304-?		3E-7	(disease-free survival)	2.91	[1.94-4.37]	Illumina [729737]	N
1907	chr5	173279841	173279842	rs359457	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	5q35.2	CPEB4	rs359457-T	0.571	3E-12		1.08	[1.04-1.12]	Affymetrix, Illumina [953241] (imputed)	N
1907	chr5	173318253	173318254	rs72810983	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q35.2	NR	rs72810983-A	0.69	2E-8	(EA)	1.0646069		Affymetrix, Illumina [~ 9000000] (imputed)	N
1907	chr5	173320814	173320815	rs7705502	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.2	CPEB4	rs7705502-A	0.3309	2E-7	(EA, men)	0.0269	[0.017-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1907	chr5	173320814	173320815	rs7705502	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.2	CPEB4	rs7705502-A	0.3278	5E-14	(EA)	0.0271	[0.02-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1907	chr5	173320814	173320815	rs7705502	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.2	CPEB4	rs7705502-A	0.3263	4E-7	(men)	0.0259	[0.016-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1907	chr5	173320814	173320815	rs7705502	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.2	CPEB4	rs7705502-A	0.324	2E-8	(EA, women)	0.0269	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1907	chr5	173320814	173320815	rs7705502	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.2	CPEB4	rs7705502-A	0.3223	2E-13		0.0263	[0.019-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1907	chr5	173320814	173320815	rs7705502	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.2	CPEB4	rs7705502-A	0.3197	3E-8	(women)	0.0265	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1907	chr5	173337852	173337853	rs17695092	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	5q35.2	CPEB4	rs17695092-T	0.703	5E-9		1.095	[1.055-1.136]	Affymetrix, Illumina [1230000] (imputed)	N
1907	chr5	173352762	173352763	rs1106693	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q35.2	CPEB4	rs1106693-G	0.039	2E-6	(Height z-score )	0.02	[NR] SD increase	Illumina [899892]	N
1907	chr5	173359330	173359331	rs17763373	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	5q35.2	NR	rs17763373-?	NR	7E-6		1.5106	[NR]	Illumina [NR] (imputed)	N
1907	chr5	173362457	173362458	rs6861681	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	5q35.2	CPEB4	rs6861681-A	0.34	2E-9		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
1907	chr5	173373947	173373948	rs56163845	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q35.2	NR	rs56163845-?	NR	9E-12	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1909	chr5	173625153	173625154	rs6863418	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)	80 Japanese ancestry cases, 226 Japanese ancestry controls	NA	5q35.2	HMP19	rs6863418-A	0.055	7E-6	(Dominant model)	3.623	[2.042-6.429]	Illumina [733202]	N
1909	chr5	173648437	173648438	rs10475598	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	5q35.2	CTC-430J12.2	rs10475598-T	0.32	8E-7	(speed factor)	0.15	[0.09-0.21] unit increase	Illumina [~ 610000]	N
1910	chr5	173695777	173695778	rs11952171	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q35.2	HMP19	rs11952171-A	0.18	7E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1910	chr5	173707234	173707235	rs6878584	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		5q35.2	intergenic	rs6878584-?	NR	7E-6		2.27	[NR]	Illumina [up to 810372] (imputed)	N
1910	chr5	173777519	173777520	rs12659144	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		5q35.2	NR	rs12659144-G	0.12	3E-6	(HD vs. non-HD)	1.67	[1.35-2.07]	Illumina [414804]	N
1911	chr5	173872985	173872986	rs794728	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	5q35.2	MSX2	rs794728-T	0.48	5E-6		0.42	[0.26-0.58] unit decrease	Illumina [NR] (imputed)	N
1912	chr5	173962041	173962042	rs4867766	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	5q35.2	MSX2, NKX2-5	rs4867766-A	0.08	5E-7		0.41	[0.25-0.57] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
1912	chr5	174014113	174014114	rs145848414	23571587	Reitz C	2013-04-10	JAMA	Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E &#x000cf;&#x000b5;4,and the risk of late-onset Alzheimer disease in African Americans.	Alzheimer's disease (late onset)	1,968 African American cases, 3,928 African American controls		5q35.2	intergenic	rs145848414-A	0.04	7E-8		2.29	[1.69-3.09]	Illumina [17332474] (imputed)	N
1912	chr5	174036232	174036233	rs10866682	26256467	Wojczynski MK	2015-07-03	Metabolism	Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).	Postprandial triglyceride response to high fat diet meal	872 European ancestry individuals	843 Old Order Amish individuals	5q35.2	intergenic	rs10866682-C	0.1052	5E-7	(Uptake slope)	0.4323	[0.26-0.6] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1912	chr5	174036232	174036233	rs10866682	26256467	Wojczynski MK	2015-07-03	Metabolism	Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).	Postprandial triglyceride response to high fat diet meal	872 European ancestry individuals	843 Old Order Amish individuals	5q35.2	intergenic	rs10866682-C	0.1051	6E-7	(AUI)	0.4356	[0.27-0.61] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1917	chr5	174611339	174611340	rs4336372	23555300	Cui J	2013-03-28	PLoS Genet	Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis.	Response to anti-TNF treatment in rheumatoid arthritis	Up to 2,706 European ancestry cases	NA	5q35.2	NR	rs4336372-C	0.34	3E-6	(infliximab, delta-DAS analysis)	0.34	[NR] unit decrease	Affymetrix, Illumina [~ 2000000] (imputed)	N
1917	chr5	174611339	174611340	rs4336372	23555300	Cui J	2013-03-28	PLoS Genet	Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis.	Response to anti-TNF treatment in rheumatoid arthritis	Up to 2,706 European ancestry cases	NA	5q35.2	NA	rs4336372-C	0.34	1E-6	(infliximab, EULAR response analysis)	0.65	[NR] unit decrease	Affymetrix, Illumina [~ 2000000] (imputed)	N
1918	chr5	174761094	174761095	rs12652255	22310353	Man M	2012-02-07	Pharmacogenomics J	Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.	Treatment response for severe sepsis	1,446 individuals	NA	5q35.2	DRD1	rs12652255-?	NR	8E-6	(CC vs. not CC)			Illumina [856627]	N
1918	chr5	174782118	174782119	rs251925	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q35.2	DRD1	rs251925-A	0.285	5E-6	(IGF1 free )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1921	chr5	175178874	175178875	rs10039217	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q35.2	CPLX2	rs10039217-G	0.013	3E-7	(Sleep duration )	0.04	[NR] min/d increase	Illumina [899892]	N
1922	chr5	175244033	175244034	rs7448069	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	5q35.2	NR	rs7448069-T		1E-6				Illumina [2373249] (imputed)	N
1922	chr5	175244436	175244437	rs55914911	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	5q35.2	CPLX2	rs55914911-G	NR	1E-6	(Fixed effect)	0.23	[0.13-0.33] unit increase	Illumina [4736131] (imputed)	N
1926	chr5	175849988	175849989	rs2913737	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q35.2	CLTB	rs2913737-A	0.169	8E-6	(TG )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1927	chr5	175956270	175956271	rs890835	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	5q35.2	RNF44	rs890835-A	0.112	6E-6		0.177	[0.1-0.25] years increase	Affymetrix, Illumina [2551160] (imputed)	N
1930	chr5	176378573	176378574	rs365132	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	5q35.2	UIMC1	rs365132-T	0.49	9E-32		0.287	[0.24-0.34] years increase	Affymetrix, Illumina [2551160] (imputed)	N
1930	chr5	176378573	176378574	rs365132	19448621	He C	2009-05-17	Nat Genet	Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.	Menarche and menopause (age at onset)	17,438 European ancestry female individuals	NA	5q35.2	UIMC1	rs365132-T	0.49	8E-14	(age at natural menopause)	0.39	[0.29-0.49] years increase	Illumina [317759]	N
1931	chr5	176517325	176517326	rs422421	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q35.2	FGFR4	rs422421-T	0.218	2E-20		0.034	[0.026-0.042] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1931	chr5	176517325	176517326	rs422421	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q35.2	FGFR4/NSD1	rs422421-T	0.22	1E-12		0.031	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1931	chr5	176521455	176521456	rs2011077	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	5q35.2	NR	rs2011077-T	0.234	3E-7	(EA)	0.062	[0.038-0.086] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1931	chr5	176527576	176527577	rs6556301	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	5q35.3	NR	rs6556301-T	0.364	4E-6	(EA)	0.048	[0.028-0.068] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1931	chr5	176527576	176527577	rs6556301	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.3	FGFR4	rs6556301-T	0.359	5E-7	(men)	0.0286	[0.017-0.04] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1931	chr5	176527576	176527577	rs6556301	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.3	FGFR4	rs6556301-T	0.3579	1E-6	(EA, men)	0.0285	[0.017-0.04] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1931	chr5	176527576	176527577	rs6556301	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.3	FGFR4	rs6556301-T	0.3573	3E-8	(EA)	0.0221	[0.014-0.03] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1931	chr5	176527576	176527577	rs6556301	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	5q35.3	FGFR4	rs6556301-T	0.3567	3E-8		0.0216	[0.014-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1931	chr5	176539678	176539679	rs244731	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	5q35.3	NSD1, PREL1D1, RAB34	rs244731-G	0.76	4E-6	(men)	0.102	[0.059-0.145] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1932	chr5	176576292	176576293	rs11950938	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q35.3	NSD1	rs11950938-C	0.971	5E-11		0.061	[0.043-0.079] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1933	chr5	176691278	176691279	rs10037055	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	5q35.3	intergenic	rs10037055-?	0.83	5E-6		1.14	[1.08-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1933	chr5	176734647	176734648	rs72813183	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q35.3	MXD3	rs72813183-A	0.062	2E-6	(MCP1 )	0.05	[NR] pg/mL increase	Illumina [899892]	N
1933	chr5	176734647	176734648	rs72813183	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q35.3	MXD3	rs72813183-A	0.062	2E-6	(Free T3 )	0.05	[NR] pg/mL increase	Illumina [899892]	N
1933	chr5	176784511	176784512	rs4075958	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	5q35.3	RGS14	rs4075958-A	NR	5E-7		1.09	[1.08-1.11]	Illumina [465434]	N
1933	chr5	176788569	176788570	rs4976646	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q35.3	NR	rs4976646-G	0.3415	3E-9	(EA)	1.0819606	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1933	chr5	176788569	176788570	rs4976646	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q35.3	NR	rs4976646-G	0.3415	3E-12	(EA)	1.0757427	[1.06-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1933	chr5	176788569	176788570	rs4976646	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	5q35.3	NR	rs4976646-G	0.3415	3E-8	(EA)	1.0721266	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1933	chr5	176794190	176794191	rs12654812	26272126	Oddsson A	2015-08-14	Nat Commun	Common and rare variants associated with kidney stones and biochemical traits.	Kidney stones	5,149 European ancestry cases, 279,870 European ancestry controls (includes non-array genotyped, whole-genome imputed individuals)	NA	5q35.3	SLC34A1	rs12654812-A	0.4184	6E-11		1.18	[NR]	Illumina [28300000] (imputed)	N
1933	chr5	176794190	176794191	rs12654812	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	5q35.3	DOK3	rs12654812-A	0.335	2E-8		1.068	[1.036-1.10]	Affymetrix, Illumina [1230000] (imputed)	N
1933	chr5	176794190	176794191	rs12654812	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	5q35.3	RGS14	rs12654812-A	0.36	5E-7		0.0036	[0.0022-0.0050] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
1933	chr5	176794190	176794191	rs12654812	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	5q35.3	RGS14	rs12654812-A	0.36	2E-7		0.0042	[0.0026-0.0058] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
1933	chr5	176797342	176797343	rs4074995	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	5q35.3	RGS14, SLC34A1	rs4074995-A	0.28	5E-6		0.013	[0.0071-0.0189] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1933	chr5	176798305	176798306	rs11746443	22396660	Urabe Y	2012-03-01	PLoS Genet	A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.	Nephrolithiasis	904 Japanese ancestry cases, 7,471 Japanese ancestry controls	4,892 Japanese ancestry cases, 9,873 Japanese ancestry controls	5q35.3	RGS14, PFN3, SLC34A1, F12	rs11746443-?	NR	9E-12		1.19	[1.13-1.24]	Illumina [556249]	N
1934	chr5	176817635	176817636	rs6420094	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	5q35.3	RGS14, PRR7, PFN3, GRK6, SLC34A1, F12, LMAN2	rs6420094-G	0.34	1E-14	(eGFRcrea)	0.01	[0.007-0.015] ml/min/1.73 m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1934	chr5	176841338	176841339	rs2545801	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	5q35.3	RGS14, PRR7, DBN1, GRK6, UIMC1, SLC34A1, F12, FGFR4, NSD1, PRELID1, MXD3, LMAN2	rs2545801-C	NR	6E-88		1.68	[1.48-1.88] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1934	chr5	176841338	176841339	rs2545801	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	5q35.3	F12	rs2545801-?	NR	9E-11	(Phe)	0.12	[0.081-0.159] unit decrease	Illumina [~ 7700000] (imputed)	N
1934	chr5	176842473	176842474	rs2731672	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	5q35.3	F12	rs2731672-T	0.26	6E-26	(X-12038/bradykinin, des-arg(9))	0.179	[0.15-0.21] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1934	chr5	176842473	176842474	rs2731672	23381795	Verweij N	2013-02-04	Hypertension	Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.	Circulating vasoactive peptide levels	3,444 European ancestry individuals	3,230 European ancestry individuals	5q35.3	F12	rs2731672-T	0.24	6E-24	(ADM)	0.022	[0.018-0.026] nmol/l increase	Illumina [2269099] (imputed)	N
1934	chr5	176842473	176842474	rs2731672	23381795	Verweij N	2013-02-04	Hypertension	Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.	Circulating vasoactive peptide levels	3,444 European ancestry individuals	3,230 European ancestry individuals	5q35.3	F12	rs2731672-T	0.24	1E-67	(ET)	4.61	[4.09-5.13] pmol/l increase	Illumina [2269099] (imputed)	N
1934	chr5	176842473	176842474	rs2731672	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	5q35.3	PFN3, GRK6, F12	rs2731672-?	0.27	3E-14				Illumina [~ 2000000] (imputed)	N
1934	chr5	176842473	176842474	rs2731672	21546496	Guerrero JA	2011-05-03	Haematologica	Novel loci involved in platelet function and platelet count identified by a genome-wide study performed in children.	Platelet function and related traits	70 children	286 children	5q35.3	F12	rs2731672-?	NR	1E-6	(FXII levels)			Illumina [320610]	N
1934	chr5	176842473	176842474	rs2731672	20303064	Houlihan LM	2010-03-18	Am J Hum Genet	Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.	Activated partial thromboplastin time	1,431 European ancestry individuals	NA	5q35.3	F12	rs2731672-A	0.27	2E-30		0.45	[0.37-0.53] unit decrease	Illumina [542050]	N
1935	chr5	177019261	177019262	rs57960711	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q35.3	TMED9	rs57960711-G	0.033	8E-6	(Height change )	0.03	[NR] cm/y increase	Illumina [899892]	N
1940	chr5	177613543	177613544	rs2961663	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	5q35.3	GMCL1L	rs2961663-?	NR	4E-6	(ACPA-positive RA vs ACPA-negative RA)			Illumina [1723056] (imputed)	N
1941	chr5	177808674	177808675	rs2910124	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	5q35.3	COL23A1	rs2910124-C	0.858	6E-6		0.059	[0.034-0.084] unit decrease	Illumina [6150213] (imputed)	N
1941	chr5	177840381	177840382	rs10070303	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	5q35.3	COL23A1	rs10070303-A	0.249	6E-6	(Fat mass change )	0.03	[NR] kg/y increase	Illumina [899892]	N
1943	chr5	178086923	178086924	rs7711186	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	5q35.3	CLK4	rs7711186-C	0.08	4E-7	(men)	0.215	[0.13-0.3] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1946	chr5	178395849	178395850	rs11741688	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	5q35.3	ZNF454	rs11741688-?	NR	3E-6	(EA)	1.96	[1.14-2.78] unit increase	Affymetrix, Illumina [2033301]	N
1946	chr5	178426318	178426319	rs11249608	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	5q35.3	GRM6	rs11249608-C	0.69	6E-7	(Single Height-female)	0.08	[0.049-0.111] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1947	chr5	178535712	178535713	rs11750568	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	5q35.3	ADAMTS2	rs11750568-A	0.332	6E-11		0.02	[0.014-0.026] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1947	chr5	178570913	178570914	rs10039254	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	5q35.3	ADAMTS2	rs10039254-A	NR	8E-6	(later onset)			Perlegen [429981]	N
1948	chr5	178663407	178663408	rs469568	22990015	Arning A	2012-09-20	Blood	A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.	Stroke (pediatric)	270 European ancestry trios	NA	5q35.3	ADAMTS2	rs469568-T	0.483	8E-6	(All)	1.77	[NR]	Illumina [334581]	N
1948	chr5	178699310	178699311	rs901254	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	5q35.3	ADAMTS2	rs901254-C	0.96	9E-6	(Men)			Affymetrix, Illumina [2500000] (imputed)	N
1950	chr5	178920202	178920202	rs146641304	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	5q35.3	NR	rs146641304-AC	NR	9E-6		1.5625	[NR]	Illumina [up to 9792010] (imputed)	N
1950	chr5	179032487	179032488	rs6894268	22911880	Boraska V	2012-08-22	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.	Eating disorders	Up to 2,567 European ancestry individuals	Up to 767 European ancestry cases, up to 486  European ancestry controls	5q35.3	RUFY1	rs6894268-A	0.354	3E-6	(Body Dissatisfaction)	1.439	[0.84-2.04] unit increase	Illumina [283744]	N
1951	chr5	179135814	179135815	rs6893300	24680774	Mezzavilla M	2014-03-25	Gene	Insight into genetic determinants of resting heart rate.	Resting heart rate	855 Friuli Venezia Giulia individuals	NA	5q35.3	CANX	rs6893300-C	0.718343	9E-9				Illumina [2058182] (imputed)	N
1951	chr5	179168096	179168097	rs17617068	24680774	Mezzavilla M	2014-03-25	Gene	Insight into genetic determinants of resting heart rate.	Resting heart rate	855 Friuli Venezia Giulia individuals	NA	5q35.3	MAML1	rs17617068-T	0.71853	1E-8				Illumina [2058182] (imputed)	N
1952	chr5	179238260	179238261	rs72807343	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	5q35.3	SQSTM1	rs72807343-T	0.016	7E-7		1.35	[1.20-1.52]	Illumina [7055881] (imputed)	N
1954	chr5	179471200	179471201	rs13161895	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	5q35.3	RNF130	rs13161895-T	0.08	4E-7		0.147	[0.09-0.204] unit increase	Affymetrix [~ 2740000] (imputed)	N
1956	chr5	179731013	179731014	rs6879260	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	5q35.3	GFPT2	rs6879260-T	0.39	2E-9		0.022	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1956	chr5	179794207	179794208	rs10464059	20070850	Edwards TL	2010-01-13	Ann Hum Genet	Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.	Parkinson's disease	1,752 European ancestry cases, 1,745 European ancestry controls	NA	5q35.3	NR	rs10464059-A	NR	3E-6		1.33	[1.19-1.52]	Illumina [495715] (imputed)	N
1956	chr5	179812667	179812668	rs10479469	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	5q35.3	GFPT2	rs10479469-G	0.33	2E-6	(univariate, arm)			Illumina [319818]	N
1959	chr5	180170818	180170819	rs12517906	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Weight	Up to 3,925 European individuals	NA	5q35.3	MGAT1	rs12517906-G	0.85	7E-8	(females)	2.96	[NR] kg decrease	Illumina [318237]	N
1959	chr5	180170818	180170819	rs12517906	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	5q35.3	NR	rs12517906-G	0.85	6E-6	(females)	0.16	[NR] kg decrease	Illumina [318237]	N
1959	chr5	180205937	180205938	rs6859974	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	5q35.3	MGAT1	rs6859974-T	0.14	8E-6	(EA-glucose response)	3.67	[2.06-5.28] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1960	chr5	180226672	180226673	rs655601	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	5q35.3	MGAT1	rs655601-A	0.47	5E-6	(HDL-C)	0.23	[NR] mg/dL increase	Affymetrix [408775]	N
1962	chr5	180595137	180595138	rs1279750	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	5q35.3	AC008620.2	rs1279750-?	NR	2E-6				Illumina [874956]	N
586	chr6	221145	221146	rs9501753	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	6p25.3	intergenic	rs9501753-?		1E-8	(EA)		[NR]	Illumina [936149]	N
586	chr6	252144	252145	rs6927090	23303382	Hong KW	2013-01-10	J Hum Genet	Genome-wide association study of serum albumin:globulin ratio in Korean populations.	Hematology traits	4,637 East Asian ancestry individuals	4,205 East Asian ancestry individuals	6p25.3	IRF4	rs6927090-A	0.282	4E-6	(ALB/GLB)	0.015	[0.0091-0.0209] unit increase	Affymetrix [290659]	N
587	chr6	382558	382559	rs7773324	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p25.3	IRF4, DUSP22	rs7773324-A	0.6	6E-9	(EA)	1.0637687		Affymetrix, Illumina [~ 9000000] (imputed)	N
587	chr6	382558	382559	rs7773324	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p25.3	IRF4, DUSP22	rs7773324-G	0.6	1E-9	(EA)	1.0819273		Affymetrix, Illumina [~ 9000000] (imputed)	N
587	chr6	383545	383546	rs1033180	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6p25.3	IRF4	rs1033180-A	0.08	6E-8		1.21	[1.13-1.29]	Illumina [292387]	N
588	chr6	396320	396321	rs12203592	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	6p25.3	IRF4	rs12203592-T	0.0919412668601673	3E-9		0.010126092	[NR] unit decrease	Illumina [11155022] (imputed)	N
588	chr6	396320	396321	rs12203592	25705849	Jacobs LC	2015-02-23	J Invest Dermatol	A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.	Facial pigmentation	2,844 European ancestry individuals	NA	6p25.3	IRF4	rs12203592-T	0.09	2E-27		24.95	[24.93-24.97] unit increase	Illumina [6846125] (imputed)	N
588	chr6	396320	396321	rs12203592	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Tanning	9,678 European ancestry individuals		6p25.3	IRF4	rs12203592-C	NR	3E-23		0.35	[0.29-0.41] unit decrease	Affymetrix, Illumina [7588169] (imputed)	N
588	chr6	396320	396321	rs12203592	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Sunburns	9,283 European ancestry individuals	4,236 European ancestry individuals	6p25.3	IRF4	rs12203592-T	NR	2E-6		1.13	[0.66-1.60] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
588	chr6	396320	396321	rs12203592	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Non-melanoma skin cancer	6,747 European ancestry individuals	2,078 European ancestry individuals	6p25.3	IRF4	rs12203592-T	NR	7E-14		0.21	[0.15-0.27] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
588	chr6	396320	396321	rs12203592	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Hair color	7,070 European ancestry individuals	4,155 European ancestry individuals	6p25.3	IRF4	rs12203592-C	NR	1E-28		0.35	[0.29-0.41] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
588	chr6	396320	396321	rs12203592	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	6p25.3	IRF4	rs12203592-?	0.19	6E-15		1.48	[1.34-1.63]	Illumina [531451]	N
588	chr6	396320	396321	rs12203592	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	6p25.3	NR	rs12203592-?	NR	4E-7	(red hair)			Illumina [535076]	N
588	chr6	396320	396321	rs12203592	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	6p25.3	IRF4	rs12203592-T	0.18	2E-28	(hair color)	0.59	[NR] unit increase	Illumina [535076]	N
588	chr6	396320	396321	rs12203592	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Freckling	9,126 European ancestry individuals	NA	6p25.3	IRF4	rs12203592-T	0.18	2E-91		1.61	[NR] unit increase	Illumina [535076]	N
588	chr6	396320	396321	rs12203592	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eye color	9,126 European ancestry individuals	NA	6p25.3	IRF4	rs12203592-T	0.18	2E-15	(eye color)	0.42	[NR] unit decrease	Illumina [535076]	N
588	chr6	396320	396321	rs12203592	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. red hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	6p25.3	IRF4	rs12203592-T	NR	9E-28		0.31	[0.25-0.36] hair color score decrease	Illumina [528173]	N
588	chr6	396320	396321	rs12203592	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. blond hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	6p25.3	IRF4	rs12203592-T	NR	7E-127		0.35	[0.33-0.37] hair color score decrease	Illumina [528173]	N
588	chr6	411063	411064	rs872071	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	6p25.3	IRF4	rs872071-G	0.51	3E-16		1.39	[NR]	Illumina [450000] (imputed)	N
588	chr6	411063	411064	rs872071	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	6p25.3	IRF4	rs872071-G	0.51	6E-20		1.33	[NR]	Illumina [549934]	N
588	chr6	411063	411064	rs872071	22700719	Slager SL	2012-06-13	Blood	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,121 European ancestry cases, 3,745 European ancestry controls	861 European ancestry cases, 2,033 European ancestry controls	6p25.3	NR	rs872071-G	0.53	8E-14		1.47	[1.33-1.63]	Affymetrix, Illumina [~ 1500000] (imputed)	N
588	chr6	411063	411064	rs872071	18758461	Di Bernardo MC	2008-08-31	Nat Genet	A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	505 European ancestry cases, 1,438 European ancestry controls	1,024 European ancestry cases, 1,677 European ancestry controls	6p25.3	IRF4	rs872071-G	0.54	2E-20		1.54	[1.41- 1.69]	Illumina [345665]	N
588	chr6	417726	417727	rs9378805	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p25.3	NR	rs9378805-C	0.49	2E-6		1.38	[1.20-1.58]	Affymetrix [827777]	N
588	chr6	422630	422631	rs62389424	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Light vs. dark hair color	3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals	NA	6p25.3	IRF4	rs62389424-?	0.913	3E-12		2.260398	[2.03-2.49]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
588	chr6	422630	422631	rs62389424	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Brown vs. non-brown hair color	3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals	NA	6p25.3	IRF4	rs62389424-?	0.913	5E-8		1.8014772	[1.59-2.01]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
588	chr6	422630	422631	rs62389424	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Blond vs non-blond hair color	2,888 European ancestry blond hair individuals, 4,203 European ancestry non-blond hair individuals	NA	6p25.3	IRF4	rs62389424-?	0.087	1E-13		2.4846	[2.25-2.72]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
588	chr6	426154	426155	rs9378815	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p25.3	IRF4	rs9378815-C	0.66	1E-7	(EA)	1.09	[1.05-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
588	chr6	426154	426155	rs9378815	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p25.3	IRF4	rs9378815-C	0.58	2E-10		1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
588	chr6	466032	466033	rs1540771	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Freckles	2,986 individuals	3,932 individuals	6p25.3	SEC5L1, IRF4	rs1540771-A	0.42	4E-18		1.4	[1.26-1.57]	Illumina [317511]	N
588	chr6	471135	471136	rs12202284	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Non-melanoma skin cancer	6,747 European ancestry individuals	2,078 European ancestry individuals	6p25.3	EXOC2, IRF4	rs12202284-A	NR	5E-8		0.15	[0.091-0.209] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
588	chr6	475488	475489	rs12210050	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	6p25.3	EXOC2, 9648	rs12210050-?	NR	4E-6	(All)	1.18	[NR]	Illumina [up to 531195]	N
588	chr6	475488	475489	rs12210050	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	6p25.3	EXOC2, 9648	rs12210050-?	NR	3E-6	(EA)	1.197	[NR]	Illumina [up to 531195]	N
588	chr6	475488	475489	rs12210050	21700618	Nan H	2011-06-23	Hum Mol Genet	Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.	Basal cell carcinoma	2,045 European ancestry cases, 6,013 European ancestry controls	1,426 cases, 4,845 controls	6p25.3	EXOC2	rs12210050-T	0.17	1E-9		1.24	[1.17-1.31]	Affymetrix, Illumina [2318094] (imputed)	N
588	chr6	475488	475489	rs12210050	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	6p25.3	EXOC2	rs12210050-T	NR	5E-14		0.22	[0.16-0.28] tanning ability score increase	Illumina [528173]	N
588	chr6	484452	484453	rs116446171	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	6p25.3	EXOC2	rs116446171-G	0.019	2E-21		2.2	[1.87-2.59]	Illumina [8363971] (imputed)	N
589	chr6	542158	542159	rs6918152	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. red hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	6p25.3	EXOC2	rs6918152-A	NR	5E-7		0.11	[0.07-0.15] hair color score increase	Illumina [528173]	N
589	chr6	542158	542159	rs6918152	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. blond hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	6p25.3	EXOC2	rs6918152-A	NR	6E-8		0.11	[0.07-0.15] hair color score increase	Illumina [528173]	N
589	chr6	542415	542416	rs3799296	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	6p25.3	EXOC2, IRF4	rs3799296-T	0.419	6E-6		1.09	[1.05-1.14]	Illumina [up to 4778154] (imputed)	N
589	chr6	549389	549390	rs2476847	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	6p25.3	EXOC2	rs2476847-?	NR	6E-8	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
589	chr6	566740	566741	rs2476842	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	6p25.3	EXOC2	rs2476842-?	NR	3E-6	(DMFS3)			Illumina [518997]	N
589	chr6	577819	577820	rs9504361	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	6p25.3	EXOC2, IRF4	rs9504361-A	NR	3E-7		1.163	[1.129-1.198]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
589	chr6	577819	577820	rs9504361	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Pit-and-Fissure caries	996 European ancestry individuals		6p25.3	NR	rs9504361-G	0.4504	6E-6		1.156	[NR] unit increase	Illumina [1200000] (imputed)	N
589	chr6	604157	604158	rs1747593	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	6p25.3	NR	rs1747593-T	0.037	4E-6	(EA)	0.118	[0.067-0.169] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
589	chr6	625070	625071	rs17756712	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	6p25.3	EXOC2	rs17756712-G	NR	1E-9		0.01	[0.0061-0.0139] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
591	chr6	858969	858970	rs1572438	22773346	Edwards DR	2012-07-07	Age (Dordr)	Linkage and association of successful aging to the 6q25 region in large Amish kindreds.	Aging	263 Amish individuals aged 80 years or older	NA	6p25.3	HUS1B, FOXQ1	rs1572438-?	0.27	9E-6				Affymetrix [630309]	N
593	chr6	1169046	1169047	rs9405444	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Erythema nodosum in inflammatory bowel disease	103 European ancestry cases, 5,653 European ancestry controls	NA	6p25.3	FOXQ1	rs9405444-A	NR	8E-6		2.21	[1.60-3.10]	Illumina [2017629] (imputed)	N
595	chr6	1318877	1318878	rs11242675	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	6p25.3	FOXQ1	rs11242675-T	0.61	7E-9		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
595	chr6	1340188	1340189	rs9502893	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	6p25.3	FOXQ1	rs9502893-G	0.35	3E-7	(allelic)	1.29	[1.17-1.43]	Illumina [420236]	N
595	chr6	1371556	1371557	rs76456399	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p25.3	NR	rs76456399-A	NR	6E-6		1.2	[NR]	Illumina [7158791] (imputed)	N
595	chr6	1402536	1402537	rs1711973	24662972	Figueroa JD	2014-03-24	Carcinogenesis	Genome-wide interaction study of smoking and bladder cancer risk.	Bladder cancer (smoking interaction)	560 European ancestry never smoker cases, 2,442 European ancestry ever smoker cases, 1,406 European ancestry never smoker controls, 3,005 European ancestry ever smoker controls	494 European ancestry never smoker cases, 1,927 European ancestry ever smoker cases, 2,257 European ancestry never smoker controls, 3,490 European ancestry ever smoker controls	6p25.3	FOXF2	rs1711973-?	NR	3E-6	(multiplicative, prospective analysis)			Illumina [491011]	N
596	chr6	1510657	1510658	rs9405490	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	6p25.3	BC087858	rs9405490-?	NR	4E-10	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
596	chr6	1524569	1524570	rs2569872	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	6p25.3	BC087858, DD413621	rs2569872-C		8E-6		0.2821	unit increase	Illumina [5767231] (imputed)	N
596	chr6	1535997	1535998	rs11242704	22095909	Lange CM	2011-11-16	Hepatology	Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	707 European ancestry cases	NA	6p25.3	RP11-157J24.1	rs11242704-G	NR	5E-6		0.257	[0.15-0.37] ug/L decrease	NR [NR]	N
597	chr6	1573612	1573613	rs2338	22020760	Won HH	2011-10-21	Cancer	Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients.	Response to platinum-based agents	96 colon cancer cases	247 colon cancer cases	6p25.3	FOXC1, GMDS	rs2338-?	NR	5E-6		2.27	[1.58-3.26]	Affymetrix [656843]	N
598	chr6	1785917	1785918	rs226444	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6p25.3	NR	rs226444-A	0.4426	3E-6	(Total trans-18:1, EA)	0.0534	[0.031-0.076] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
599	chr6	1918261	1918262	rs3800131	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p25.3	GMDS	rs3800131-A	0.356	9E-6	(Testosterone )	0.03	[NR] ng/mL increase	Illumina [899892]	N
599	chr6	1922906	1922907	rs11969985	25173105	Gharahkhani P	2014-08-31	Nat Genet	Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,155 European ancestry cases, 1,922 European ancestry controls	3,548 European ancestry cases, 9,496 European ancestry controls	6p25.3	GMDS	rs11969985-G	0.86	8E-10		1.31	[NR]	Illumina [7594768] (imputed)	N
602	chr6	2235632	2235633	rs9378688	21502949	Stein JL	2011-04-19	Mol Psychiatry	Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search.	Caudate nucleus volume	734 European ancestry individuals	464 European ancestry individuals	6p25.3	GMDS	rs9378688-A	0.12	6E-6	(Left caudate)	154.2	[87.56-220.84] mm3 decrease	Illumina [520459]	N
602	chr6	2355674	2355675	rs2505675	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	6p25.2	LOC100508120	rs2505675-T	0.85	4E-6		4.5455	[NR]	Affymetrix [up to 4467279] (imputed)	N
604	chr6	2500819	2500820	rs4959677	24124408	Hong KW	2013-09-30	Genomics Inform	Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.	Orthostatic hypotension	667 Korean ancestry cases,  5,761 Korean ancestry controls	NA	6p25.2	MYLK4	rs4959677-C	0.216	9E-6	(Delta DBP)	0.83	[NR] mmHg increase	Affymetrix [333651]	N
604	chr6	2565751	2565752	rs12195826	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p25.2	C6orf195	rs12195826-A	0.407	4E-7	(Urinary nitrogen )	0.05	[NR] g/d increase	Illumina [899892]	N
608	chr6	3077140	3077141	rs2272990	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	6p25.2	NR	rs2272990-T	0.0823	5E-7		0.39	[0.24-0.55] unit decrease	Affymetrix, Illumina [2403520] (imputed)	N
610	chr6	3294823	3294824	rs9378357	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p25.2	SLC22A23	rs9378357-A	0.185	1E-6	(sICAM-1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
610	chr6	3295027	3295028	rs4959799	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	6p25.2	SLC22A23	rs4959799-?		5E-6	(disease-free survival)	3.5	[2.05-5.99]	Illumina [729737]	N
610	chr6	3307862	3307863	rs9391988	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	6p25.2	SLC22A23	rs9391988-A	0.353	2E-6	(Carbohydrate)			Affymetrix [590000]	N
610	chr6	3307862	3307863	rs9391988	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	6p25.2	SLC22A23	rs9391988-A	0.353	2E-6	(Carbohydrate)			Affymetrix [590000]	N
610	chr6	3359336	3359337	rs4959235	20921969	Aberg K	2010-10-05	Pharmacogenomics J	Genome-wide association study of antipsychotic-induced QTc interval prolongation.	Antipsychotic-induced QTc interval prolongation	738 European, African American, Hispanic, and other ancestry Schizophrenia cases	NA	6p25.2	SLC22A23	rs4959235-?	NR	2E-7	(Quetiapine)			Affymetrix [492000]	N
610	chr6	3371290	3371291	rs981946	21221126	Shen Y	2011-01-11	Pharmacogenomics J	Genome-wide association study of serious blistering skin rash caused by drugs.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	up to 72 European ancestry cases, up to 4,251 European ancestry controls	NA	6p25.2	SLC22A23	rs981946-?	NR	9E-6		2.3	[1.6-3.4]	Illumina [up to 1000000]	N
611	chr6	3420405	3420406	rs13204048	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p25.2	NR	rs13204048-A	0.61	1E-6	(EA)	1.0509611		Affymetrix, Illumina [~ 9000000] (imputed)	N
611	chr6	3420405	3420406	rs13204048	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p25.2	intergenic	rs13204048-G	0.61	3E-8	(EA)	1.0708697		Affymetrix, Illumina [~ 9000000] (imputed)	N
611	chr6	3433317	3433318	rs17309827	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6p25.2	intergenic	rs17309827-T	0.639	7E-9		1.1	[1.05-1.16]	Affymetrix, Illumina [953241] (imputed)	N
614	chr6	3837197	3837198	rs17318866	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin)	59 Japanese ancestry cases, 155 Japanese ancestry controls	NA	6p25.2	FAM50B	rs17318866-G	0.79	1E-6	(Allelic model)	7.559	[2.689-21.263]	Illumina [733202]	N
616	chr6	4146197	4146198	rs9392556	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p25.2	ECI2	rs9392556-T	0.66	4E-38	(X-13435)	0.036	[0.03-0.042] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
618	chr6	4379510	4379511	rs17138114	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p25.1	KU-MEL-3, PECI, ECI2	rs17138114-G	0.222	1E-6	(Birth weight )	0.04	[NR] kg increase	Illumina [899892]	N
622	chr6	4874758	4874759	rs73717741	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	6p25.1	CDYL	rs73717741-C	0.93	3E-7		0.084	unit increase	Illumina [~ 6300000] (imputed)	N
625	chr6	5260935	5260936	rs2224391	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	6p25.1	LYRM4	rs2224391-A	0.23	3E-6		0.049	[0.029-0.069] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
627	chr6	5600437	5600438	rs9328321	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	6p25.1	FARS2	rs9328321-A	0.21	5E-7		1.22	[1.13-1.32]	Affymetrix [~ 2000000] (imputed)	N
632	chr6	6169889	6169890	rs6934608	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6p25.1	NR	rs6934608-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
632	chr6	6283665	6283666	rs749005	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Entorhinal cortical volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	6p25.1	F13A1	rs749005-?	NR	3E-7		2.0E-4	[NR] unit decrease	Illumina [478011]	N
633	chr6	6318125	6318126	rs3024321	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	6p25.1	F13A1	rs3024321-A	0.679	8E-142	(FXIII activity)	0.891	[0.82-0.96] unit decrease	Illumina [NR] (imputed)	N
633	chr6	6318794	6318795	rs5985	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	6p25.1	F13A1	rs5985-C	0.741	3E-186	(FXIII activity)	1.077	[1-1.15] unit decrease	Illumina [NR] (imputed)	N
633	chr6	6331935	6331936	rs1318606	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	6p25.1	F13A1	rs1318606-T	0.569	4E-17	(FXIIIA)	0.273	[0.21-0.34] unit decrease	Illumina [NR] (imputed)	N
633	chr6	6337505	6337506	rs11243081	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	6p25.1	F13A1	rs11243081-C	0.676	5E-18	(FXIIIA)	0.299	[0.23-0.37] unit decrease	Illumina [NR] (imputed)	N
633	chr6	6341286	6341287	rs17142067	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	6p25.1	F13A1	rs17142067-A	0.67	1E-17	(FXIIIA)	0.299	[0.23-0.37] unit decrease	Illumina [NR] (imputed)	N
634	chr6	6476277	6476278	rs945144	25317112	Oh S	2014-09-30	Genomics Inform	Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.	Gastritis	977 Korean ancestry female cases, 3,622 Korean ancestry female controls, 804 Korean ancestry male cases, 3,335 Korean ancestry male controls	NA	6p25.1	LY86-AS1	rs945144-?	NR	9E-6	(Females)	1.2627857	[NR]	NR [349184]	N
634	chr6	6550748	6550749	rs17142289	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	6p25.1	LY86-AS1	rs17142289-?	0.02	4E-6	(Breast cancer, overall toxicity, univariable analysis)	0.35	[NR] unit increase	Illumina [2417493] (imputed)	N
635	chr6	6593048	6593049	rs4246076	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	6p25.1	LY86	rs4246076-G	0.59	6E-6		0.051	[0.029-0.073] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
635	chr6	6612466	6612467	rs2326810	20038947	Shyn SI	2009-12-29	Mol Psychiatry	Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.	Major depressive disorder (broad)	3,957 European ancestry cases, 3,428 European ancestry controls	NA	6p25.1	LY86	rs2326810-G	0.92	7E-6		1.41	[NR]	Affymetrix, Perlegen [2391203] (imputed)	N
636	chr6	6738751	6738752	rs1294410	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p25.1	LY86	rs1294410-C	0.6356	6E-16	(women)	0.0369	[0.028-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
636	chr6	6738751	6738752	rs1294410	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p25.1	LY86	rs1294410-C	0.6334	2E-15	(EA, women)	0.0369	[0.028-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
636	chr6	6738751	6738752	rs1294410	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p25.1	LY86	rs1294410-C	0.6329	2E-18	(EA)	0.0309	[0.024-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
636	chr6	6738751	6738752	rs1294410	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p25.1	LY86	rs1294410-C	0.6326	8E-20		0.0315	[0.025-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
636	chr6	6738751	6738752	rs1294410	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p25.1	LY86	rs1294410-C	0.6325	1E-6	(EA, men)	0.0247	[0.015-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
636	chr6	6738751	6738752	rs1294410	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p25.1	LY86	rs1294410-C	0.627	3E-7	(men)	0.0255	[0.016-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
636	chr6	6738751	6738752	rs1294410	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist-hip ratio	up to 19,744 African American individuals	Up to 7,606 African American individuals	6p25.1	LY86	rs1294410-T	0.23	1E-6	(BMI_pooled)	0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [3200000] (imputed)	N
636	chr6	6743148	6743149	rs1294421	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Waist-hip ratio	4,774 European ancestry high waist-to-hip ratio individuals, 5,481 European ancestry low waist-to-hip ratio individuals	3,351 European ancestry high waist-to-hip ratio individuals, 3,352 European ancestry low waist-to-hip ratio individuals	6p25.1	LY86	rs1294421-G	0.62	2E-10		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
636	chr6	6743148	6743149	rs1294421	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p25.1	LY86	rs1294421-G	0.61	2E-17		0.03	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
636	chr6	6752058	6752059	rs1294438	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (non-dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	6p25.1	intergenic	rs1294438-T	0.34	1E-6				Affymetrix, Illumina [~ 2500000] (imputed)	N
636	chr6	6786424	6786425	rs1573948	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	6p25.1	intergenic	rs1573948-?		4E-6	(overall survival)	2.71	[1.77-4.15]	Illumina [729737]	N
636	chr6	6786424	6786425	rs1573948	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	6p25.1	intergenic	rs1573948-?		5E-6	(overall survival)	1.93	[1.46-2.57]	Illumina [729737]	N
637	chr6	6911450	6911451	rs2249382	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6p25.1	NR	rs2249382-?	NR	1E-7	(Japanese)	0.298	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
639	chr6	7102083	7102084	rs675209	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	6p24.3	RREB1	rs675209-T	0.27	1E-23		0.0612	[0.049-0.073] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
639	chr6	7102083	7102084	rs675209	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	6p24.3	RREB1	rs675209-T	0.26	1E-9	(Urate)	4.39	[2.98-5.80] umol/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
639	chr6	7106315	7106316	rs2842895	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p24.3	RREB1	rs2842895-C	0.58	4E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
639	chr6	7106315	7106316	rs2842895	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p24.3	RREB1	rs2842895-C	0.58	4E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
639	chr6	7118989	7118990	rs11755724	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	6p24.3	RREB1	rs11755724-A	NR	3E-6		1.08	[1.06-1.09]	Illumina [465434]	N
639	chr6	7118989	7118990	rs11755724	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	6p24.3	RREB1	rs11755724-G	0.64	1E-6		1.15	[1.09-1.14]	Affymetrix [632932]	N
640	chr6	7217516	7217517	rs6931262	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist-hip ratio	up to 19,744 African American individuals	Up to 7,606 African American individuals	6p24.3	RREB1	rs6931262-T	0.25	3E-8	(BMI_pooled)	0.06	[0.04-0.08] unit increase	Affymetrix, Illumina [3200000] (imputed)	N
640	chr6	7240576	7240577	rs2714337	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	6p24.3	RREB1	rs2714337-?		3E-7				Affymetrix, Illumina [~ 2400000] (imputed)	N
640	chr6	7258616	7258617	rs9502570	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p24.3	RREB1, SSR1	rs9502570-A		1E-9		1.06	[1.04-1.08]	Affymetrix, Illumina [2500000] (imputed)	N
642	chr6	7563231	7563232	rs2076295	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	6p24.3	DSP	rs2076295-G	0.44	1E-19		1.43	[1.32-1.55]	Illumina [439828]	N
643	chr6	7652716	7652717	rs7739678	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p24.3	SNRNP48	rs7739678-G	0.089	9E-6	(Fat mass change )	0.03	[NR] kg/y increase	Illumina [899892]	N
643	chr6	7695972	7695973	rs1885486	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p24.3	BMP6	rs1885486-A	0.48	5E-17		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
643	chr6	7708630	7708631	rs9392918	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p24.3	BMP6	rs9392918-T	0.525	4E-38		0.038	[0.032-0.044] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
643	chr6	7720058	7720059	rs12198986	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p24.3	BMP6	rs12198986-A	0.5	2E-11		6.8	[4.84-8.76] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
643	chr6	7725759	7725760	rs3812163	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p24.3	BMP6	rs3812163-A	0.79	1E-7		0.032	[0.018-0.046] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
643	chr6	7725759	7725760	rs3812163	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p24.3	BMP6	rs3812163-A	0.54	1E-23		0.036	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
644	chr6	7736742	7736743	rs2068361	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	6p24.3	BMP6	rs2068361-?	0.23	5E-6	(CL)	1.64	[1.32-2.04	Illumina [NR]	N
644	chr6	7743662	7743663	rs9505270	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		6p24.3	BMP6	rs9505270-?	0.261	4E-7			[NR]	Affymetrix, Illumina [152234]	N
644	chr6	7801111	7801112	rs6923462	24929828	Loth DW	2014-06-15	Nat Genet	Genome-wide association analysis identifies six new loci associated with forced vital capacity.	Forced vital capacity	52,253 European ancestry indiviudals	32,917 European ancestry individuals, 6,070 African American individuals, 849 Hispanic individuals, 8,637 East Asian ancestry individuals	6p24.3	BMP6	rs6923462-T	0.843	6E-13	(EA)	30.883	[22.48-39.29] ml increase	Affymetrix, Illumina [2762059] (imputed)	N
646	chr6	8001116	8001117	rs9328448	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	6p24.3	MUTED	rs9328448-A	0.75	3E-6	(AA)	0.17	[0.092-0.248] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
647	chr6	8169799	8169800	rs11964561	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6p24.3	NR	rs11964561-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
647	chr6	8228941	8228942	rs6929568	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	6p24.3	EEF1E1	rs6929568-T	0.49	3E-6	(AA)	0.17	[0.092-0.248] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
648	chr6	8369678	8369679	rs2153535	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	6p24.3	MUTED	rs2153535-G	0.48	3E-18		0.046	[0.035-0.056] unit increase	Illumina [7428049] (imputed)	N
651	chr6	8665156	8665157	rs80011011	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6p24.3	NR	rs80011011-?	NR	3E-7	(Latino)	1.3328	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
653	chr6	8998810	8998811	rs2064197	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	6p24.3	SLC35B3, TFAP2A	rs2064197-?		7E-6	(SG)	0.19	[0.11-0.27] unit decrease	Illumina [693128]	N
653	chr6	9030335	9030336	rs438259	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	6p24.3	LOC389365	rs438259-?	0.28	4E-6		1.49	[NR]	Illumina [835136]	N
657	chr6	9451196	9451197	rs10484246	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Morbidity-free survival	558 individuals	NA	6p24.3	intergenic	rs10484246-?	NR	8E-8				Affymetrix [70897]	N
660	chr6	9853918	9853919	rs4716055	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	6p24.3	NR	rs4716055-T	NR	4E-6		0.031	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
660	chr6	9937359	9937360	rs149747749	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	6p24.3	intergenic	rs149747749-A	0.005	8E-6		0.645	[0.36-0.93] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
661	chr6	9993736	9993737	rs116201121	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	6p24.3	NR	rs116201121-A	0.011	1E-6		0.521	[0.31-0.73] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
661	chr6	9994388	9994389	rs201260	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	6p24.3	OFCC1	rs201260-?	NR	4E-6	(Alpha power, Cz)	0.099	[0.058-0.14] unit decrease	Illumina [527829]	N
662	chr6	10102216	10102217	rs2876189	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	6p24.3	OFCC1, RPL7AP36	rs2876189-G	0.31	6E-6		1.14	[1.08-1.21]	NR [NR]	N
662	chr6	10163967	10163968	rs13195786	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	6p24.3	intergenic	rs13195786-?	NR	7E-6		0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
662	chr6	10176035	10176036	rs12210761	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	6p24.3	intergenic	rs12210761-A	0.0676606	6E-6	(partial response - SSRI treated - 2 weeks)	2.4458	[2.06-2.83]	Affymetrix, Illumina [1200000] (imputed)	N
664	chr6	10403649	10403650	rs3798696	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	6p24.3	TFAP2A	rs3798696-?		3E-6				Illumina [859311]	N
668	chr6	10897487	10897488	rs2153157	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	6p24.2	SYCP2L	rs2153157-A	0.492	8E-12		0.165	[0.12-0.21] years increase	Affymetrix, Illumina [2551160] (imputed)	N
668	chr6	10897487	10897488	rs2153157	19448621	He C	2009-05-17	Nat Genet	Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.	Menarche and menopause (age at onset)	17,438 European ancestry female individuals	NA	6p24.2	GCM2, SYCP2L	rs2153157-T	0.49	5E-8	(age at natural menopause)	0.29	[0.19-0.39] years increase	Illumina [317759]	N
668	chr6	10906255	10906256	rs4713039	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	6p24.2	SYCP2L	rs4713039-?	NR	6E-7	(Latino)	1.57	[1.39-1.75]	Affymetrix, Illumina [NR] (imputed)	N
668	chr6	10921530	10921531	rs190994806	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	6p24.2	NR	rs190994806-A	0.003	3E-6		1.26	[0.73-1.79] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
668	chr6	10921530	10921531	rs190994806	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	6p24.2	NR	rs190994806-A	0.003	9E-6		1.199	[0.67-1.73] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
668	chr6	10960157	10960158	rs6918936	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p24.2	SYCP2L	rs6918936-C	NR	3E-8	(EPA)	0.03	[NR] % increase	Affymetrix, Illumina [NR]	N
668	chr6	10963846	10963847	rs1150561	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p24.2	SYCP2L	rs1150561-G	0.94	8E-6	(women)	0.175	[0.099-0.251] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
668	chr6	10969140	10969141	rs4713103	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p24.2	SYCP2L	rs4713103-T	NR	8E-14	(DHA)	0.11	[NR] % decrease	Affymetrix, Illumina [NR]	N
668	chr6	10969140	10969141	rs4713103	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p24.2	SYCP2L	rs4713103-T	NR	3E-36	(DPA)	0.04	[NR] % increase	Affymetrix, Illumina [NR]	N
668	chr6	10981052	10981053	rs8523	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	6p24.2	SYCP2L, ELOVL2	rs8523-A	0.44	4E-9	(DPA-n3)	0.115	[NR] unit increase	Affymetrix [~ 2500000] (imputed)	N
668	chr6	10982358	10982359	rs17606561	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	6p24.2	ELOVL2	rs17606561-?	NR	1E-11	(proportions)	0.0	[0.80-1.10] % increase	Illumina [NR] (imputed)	N
668	chr6	10982972	10982973	rs3734398	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p24.2	ELOVL2	rs3734398-T	NR	1E-43	(DPA)	0.04	[NR] % decrease	Affymetrix, Illumina [NR]	N
668	chr6	10995014	10995015	rs2236212	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	6p24.2	ELOVL2	rs2236212-C	0.431	7E-7		0.01	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
668	chr6	10995014	10995015	rs2236212	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p24.2	ELOVL2	rs2236212-C	NR	1E-15	(Lower docosahexaenoic acid)	0.11	[NR] % decrease	Affymetrix, Illumina [NR]	N
668	chr6	11005841	11005842	rs2295602	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	6p24.2	ELOVL2	rs2295602-T	0.5715	7E-19	(Phosphatidylcholine diacyl C42:5)	0.0432	[0.034-0.053] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
668	chr6	11005841	11005842	rs2295602	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	6p24.2	ELOVL2	rs2295602-T	0.5715	2E-13	(Phosphatidylcholine diacyl C42:6)	0.0288	[0.021-0.036] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
668	chr6	11008621	11008622	rs3798713	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p24.2	ELOVL2	rs3798713-C	NR	2E-12	(EPA)	0.04	[NR] % increase	Affymetrix, Illumina [NR]	N
669	chr6	11040422	11040423	rs3798722	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	6p24.2	ELOVL2	rs3798722-?	0.12	4E-9				Illumina [~ 2000000] (imputed)	N
669	chr6	11042908	11042909	rs9393903	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	6p24.2	ELOVL2	rs9393903-A	0.242	2E-14	(SM-16 + 7 other traits)	0.06	[NR] unit decrease	Affymetrix, Illumina [534665]	N
669	chr6	11072321	11072322	rs9393915	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6p24.2	ELOVL2	rs9393915-T	0.22	1E-22	(docosapentaenoate (n3 DPA; 22:5n3)/X-12627)	0.042	[0.034-0.05] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
669	chr6	11074346	11074347	rs4711171	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p24.2	HERV, FRD	rs4711171-T	NR	5E-13	(DHA)	0.012	[NR] % decrease	Affymetrix, Illumina [NR]	N
669	chr6	11076025	11076026	rs1321535	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p24.2	HERV, FRD	rs1321535-T	NR	5E-11	(EPA)	0.04	[NR] % decrease	Affymetrix, Illumina [NR]	N
669	chr6	11076025	11076026	rs1321535	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p24.2	HERV, FRD	rs1321535-T	NR	1E-38	(DPA)	0.04	[NR] % decrease	Affymetrix, Illumina [NR]	N
669	chr6	11084553	11084554	rs4713169	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p24.2	ELOVL2	rs4713169-C	0.42	3E-14	(X-12627)	0.032	[0.024-0.040] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
670	chr6	11146890	11146891	rs34698933	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	6p24.2	SMIM13	rs34698933-A	0.65	3E-6	(Left HG thickness)	0.0328	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
670	chr6	11219029	11219030	rs4713266	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	6p24.2	NEDD9	rs4713266-C	0.52	4E-8	(EA)	1.07	[1.04-1.09]	Affymetrix, Illumina [up to 16852405] (imputed)	N
670	chr6	11219029	11219030	rs4713266	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	6p24.2	NEDD9	rs4713266-C	0.52	3E-9		1.06	[1.04-1.08]	Affymetrix, Illumina [up to 16852405] (imputed)	N
671	chr6	11310418	11310419	rs4437462	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 susceptibility	496 African ancestry cases and 302 African ancestry exposed controls from serodiscordant couples	NA	6p24.2	NEDD9	rs4437462-?	NR	2E-6				Illumina [990115]	N
673	chr6	11618166	11618167	rs479526	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	6p24.1	intergenic	rs479526-T	0.55	3E-6		0.093	[0.054-0.132] unit increase	Illumina [~ 2400000] (imputed)	N
674	chr6	11730081	11730082	rs2294426	21618603	Beaty TH	2011-05-26	Genet Epidemiol	Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.	Orofacial clefts (interaction)	272 European ancestry trios, 259 Asian ancestry trios, 19 African ancestry or other ancestry trios	NA	6p24.1	C6orf105	rs2294426-?	NR	4E-8	(Maternal alcohol consumption, 1df)			Illumina [~ 498000]	N
675	chr6	11811313	11811314	rs3950186	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety and major depressive disorder	1,080 European ancestry cases, 1,588 European ancestry controls	NA	6p24.1	C6orf105	rs3950186-T	0.338	8E-6		1.319	[NR]	Illumina [471581]	N
676	chr6	11943525	11943526	rs1205863	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p24.1	intergenic	rs1205863-G	0.06	6E-6		0.21	[0.12-0.30] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
676	chr6	12048826	12048827	rs1570989	22488850	Zuo L	2012-04-04	Am J Med Genet B Neuropsychiatr Genet	Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls, 449 African American cases, 480 African American controls	NA	6p24.1	HIVEP1	rs1570989-?	NR	2E-6				Illumina [805814]	N
677	chr6	12124854	12124855	rs2228213	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p24.1	HIVEP1	rs2228213-G	0.652	3E-7		0.016	[0.0095-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
677	chr6	12124854	12124855	rs2228213	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p24.1	HIVEP1	rs2228213-G	0.649	4E-6	(EA, women)	0.019	[0.011-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
677	chr6	12124854	12124855	rs2228213	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p24.1	HIVEP1	rs2228213-G	0.647	1E-6	(EA)	0.016	[0.0094-0.0224] kg/m2 increase	Affymetrix, Illumina [2550021]	N
678	chr6	12197212	12197213	rs1040994	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	6p24.1	intergenic	rs1040994-?	NR	2E-6	(olanzapine)	9.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
678	chr6	12296254	12296255	rs5370	23381795	Verweij N	2013-02-04	Hypertension	Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.	Circulating vasoactive peptide levels	3,444 European ancestry individuals	3,230 European ancestry individuals	6p24.1	EDN1	rs5370-T	0.22	1E-27	(ET)	2.955	[2.42-3.49] pmol/l increase	Illumina [2269099] (imputed)	N
680	chr6	12510126	12510127	rs12198798	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p24.1	RPL15P3	rs12198798-G	0.114	1E-6	(BMI z-score change )	0.04	[NR] SD/y increase	Illumina [899892]	N
683	chr6	12889003	12889004	rs1332844	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	6p24.1	PHACTR1	rs1332844-T	NR	6E-8		1.11	[1.07-1.15]	Illumina [574919]	N
683	chr6	12901440	12901441	rs9369640	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	6p24.1	PHACTR1	rs9369640-C	NR	3E-11		1.0989	[1.08-1.14]	Illumina [575000] (imputed)	N
683	chr6	12903434	12903435	rs4714955	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	6p24.1	PHACTR1	rs4714955-?		2E-11				Affymetrix, Illumina [up to 2500000] (imputed)	N
683	chr6	12903434	12903435	rs4714955	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	6p24.1	PHACTR1	rs4714955-?		4E-11				Affymetrix, Illumina [up to 2500000] (imputed)	N
683	chr6	12903956	12903957	rs9349379	25420145	Debette S	2014-11-24	Nat Genet	Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.	Cervical artery dissection	1,393 European ancestry cases, 14,416 European ancestry controls	659 European ancestry cases, 2,648 European ancestry controls	6p24.1	PHACTR1	rs9349379-A	0.6	1E-11		1.3	[1.20-1.39]	Illumina [472862]	N
683	chr6	12903956	12903957	rs9349379	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p24.1	TSC1, TBC1D7, PHACTR1	rs9349379-?	0.6	3E-10		1.16	[1.11-1.22]	Affymetrix, Illumina [~ 2300000] (imputed)	N
683	chr6	12903956	12903957	rs9349379	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	6p24.1	PHACTR1	rs9349379-?	0.6	2E-6		1.12	[1.08-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
683	chr6	12903956	12903957	rs9349379	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	6p24.1	TBC1D7, PHACTR1	rs9349379-?	0.6	5E-8		1.08	[1.04-1.1]	Affymetrix, Illumina [~ 2300000] (imputed)	N
683	chr6	12903956	12903957	rs9349379	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6p24.1	PHACTR1	rs9349379-G	0.74	2E-9		1.15	[1.10-1.21]	Affymetrix [~ 2200000] (imputed)	N
683	chr6	12903956	12903957	rs9349379	22745674	Hager J	2012-06-20	PLoS One	Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis.	Coronary heart disease	1,949 Middle Eastern ancestry individuals	2,547 Middle Eastern ancestry individuals	6p24.1	PHACTR1	rs9349379-G	0.349	8E-10	(CAD)	1.338	[1.22-1.47]	Illumina [513079]	N
683	chr6	12903956	12903957	rs9349379	22745674	Hager J	2012-06-20	PLoS One	Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis.	Coronary heart disease	1,949 Middle Eastern ancestry individuals	2,547 Middle Eastern ancestry individuals	6p24.1	PHACTR1	rs9349379-G	0.349	6E-12	(LAD)	1.187	[1.22-1.44]	Illumina [513079]	N
683	chr6	12903956	12903957	rs9349379	22745674	Hager J	2012-06-20	PLoS One	Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis.	Coronary heart disease	1,949 Middle Eastern ancestry individuals	2,547 Middle Eastern ancestry individuals	6p24.1	PHACTR1	rs9349379-G	0.349	4E-7	(RCA)	1.23	[1.14-1.33]	Illumina [513079]	N
683	chr6	12903956	12903957	rs9349379	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	6p24.1	PHACTR1	rs9349379-?	0.62	3E-8		1.16	[1.10-1.23]	Illumina [1246388] (imputed)	N
683	chr6	12903956	12903957	rs9349379	22144573	O'Donnell CJ	2011-12-05	Circulation	Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.	Coronary artery calcification	9,961 European ancestry individuals	6,032 European ancestry individuals	6p24.1	PHACTR1	rs9349379-A	NR	4E-22		0.196	[0.16-0.24] % decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
683	chr6	12903956	12903957	rs9349379	21846871	Mehta NN	2011-08-01	Circ Cardiovasc Genet	A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 6,996 South Asian ancestry cases, 15,062 controls	21,408 cases, 19,185 controls	6p24.1	PHACTR1	rs9349379-?	NR	9E-26				Illumina [~ 57500]	N
683	chr6	12903956	12903957	rs9349379	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	6p24.1	PHACTR1	rs9349379-?	NR	9E-26				Illumina [574919]	N
683	chr6	12927543	12927544	rs12526453	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	6p24.1	PHACTR1	rs12526453-C	0.67	1E-9		1.1	[1.06-1.13]	Affymetrix, Illumina [~ 2300000] (imputed)	N
683	chr6	12927543	12927544	rs12526453	19198609	Kathiresan S	2009-02-08	Nat Genet	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Myocardial infarction (early onset)	2,967 European ancestry cases, 3,075 European ancestry controls	9,746 European ancestry cases, 9,746 European ancestry controls	6p24.1	PHACTR1	rs12526453-C	0.65	1E-9		1.12	[1.08-1.17]	Affymetrix [~ 2500000] (imputed)	N
684	chr6	13071072	13071073	rs4615376	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	6p24.1	PHACTR1	rs4615376-?	NR	1E-6	(% Change in score)	0.16	[NR] unit decrease	Illumina [~ 7000000] (imputed)	N
685	chr6	13216057	13216058	rs4715166	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	6p24.1	PHACTR1	rs4715166-?	NR	3E-6	(NeckW1rf)			Affymetrix [70897]	N
685	chr6	13225970	13225971	rs12195574	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6p24.1	NR	rs12195574-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
686	chr6	13268210	13268211	rs202072	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p24.1	PHACTR1	rs202072-A	0.4497	4E-6	(Yun)	0.4038	unit decrease	Illumina [up to 528294]	N
686	chr6	13270944	13270945	rs1223397	22763476	Zhang D	2012-07-05	Hypertens Res	Genome-wide linkage and association scans for pulse pressure in Chinese twins.	Blood pressure	63 Chinese ancestry dizygotic twin pairs	NA	6p24.1	PHACTR1	rs1223397-?	NR	1E-7				Affymetrix [~ 900000]	N
686	chr6	13332466	13332467	rs499818	17903304	Larson MG	2007-09-19	BMC Med Genet	Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.	Major CVD	142 cases and 1,203 controls from 310 families	NA	6p24.1	intergenic	rs499818-?	NR	7E-6	(major CVD)			Affymetrix [70897]	N
689	chr6	13722522	13722523	rs204247	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	6p23	RANBP9	rs204247-G	0.43	8E-9		1.05	[1.03-1.07]	Affymetrix, Illumina [~ 2600000] (imputed)	N
692	chr6	14096657	14096658	rs12529514	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	6p23	CD83	rs12529514-C	0.14	2E-8		1.14	[1.09-1.19]	Affymetrix, Illumina [1948139]	N
693	chr6	14173427	14173428	rs853356	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	6p23	intergenic	rs853356-A	0.29	3E-6		0.04	[0.022-0.058] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
693	chr6	14200146	14200147	rs7758616	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p23	CD83	rs7758616-A	0.018	4E-6	(NEFA )	0.03	[NR] mmol/L increase	Illumina [899892]	N
696	chr6	14582443	14582444	rs16875249	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	6p23	RP11-330A16.1	rs16875249-A	0.1	8E-6		0.176	[0.1-0.252] unit increase	Affymetrix [2366856] (imputed)	N
696	chr6	14587002	14587003	rs12213875	22116950	Schuh-Huerta SM	2011-11-24	Hum Reprod	Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.	Ovarian reserve	232 European ancestry female individuals, 200 African American female individuals	NA	6p23	JARID2	rs12213875-?		3E-7	(AMH - EA)			Affymetrix [677261]	N
696	chr6	14596364	14596365	rs6914079	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	6p23	intergenic	rs6914079-?	NR	2E-6	(F2)			Affymetrix [70897]	N
696	chr6	14597981	14597982	rs9296949	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	6p23	intergenic	rs9296949-T		2E-6		0.3021	unit increase	Illumina [5767231] (imputed)	N
696	chr6	14598819	14598820	rs7770731	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	6p23	intergenic	rs7770731-?	0.29	1E-6	(quetiapine)			Affymetrix [492900]	N
696	chr6	14636962	14636963	rs707824	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p23	JARID2, RNF182	rs707824-T	NR	6E-7	(NHL)	1.33	[1.17-1.47]	Affymetrix [530583]	N
697	chr6	14719495	14719496	rs17119	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p23	NR	rs17119-A	0.81	2E-11	(EA)	1.0868671		Affymetrix, Illumina [~ 9000000] (imputed)	N
697	chr6	14719495	14719496	rs17119	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p23	NR	rs17119-G	0.81	2E-8	(EA)	1.0885191		Affymetrix, Illumina [~ 9000000] (imputed)	N
697	chr6	14719495	14719496	rs17119	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	6p23	intergenic	rs17119-A	0.786	3E-11		1.071	[1.032-1.11]	Affymetrix, Illumina [1230000] (imputed)	N
700	chr6	15089150	15089151	rs6941421	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	6p23	JARID2	rs6941421-?	0.24	6E-6			[NR]	Illumina [551642]	N
707	chr6	16110382	16110383	rs9367895	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.3	LOC644906, MYLIP	rs9367895-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
708	chr6	16127406	16127407	rs3757354	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	6p22.3	MYLIP	rs3757354-C	0.75	2E-9		0.043	[0.029-0.057] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
708	chr6	16127406	16127407	rs3757354	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p22.3	MYLIP	rs3757354-T	0.24	2E-17		0.038	[NR] unit decrease	NR [NR] (imputed)	N
708	chr6	16127406	16127407	rs3757354	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p22.3	MYLIP	rs3757354-T	0.24	2E-15		0.035	[NR] unit decrease	NR [NR] (imputed)	N
708	chr6	16127406	16127407	rs3757354	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6p22.3	IDOL	rs3757354-T	0.22	1E-11		1.43	[1.02-1.84] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
708	chr6	16127406	16127407	rs3757354	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p22.3	IDOL	rs3757354-T	0.22	3E-9		1.46	[0.99-1.93] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
708	chr6	16161424	16161425	rs6924995	22331829	Chasman DI	2012-02-13	Circ Cardiovasc Genet	Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.	Response to statin therapy (LDL-C)	6,989 European ancestry individuals	NA	6p22.3	MYLIP, GMPR, IDOL	rs6924995-?	NR	5E-7	(absolute LDL-C reduction)	4.1	[2.73-5.47] mg/dL increase	Illumina [814418]	N
708	chr6	16197193	16197194	rs2142672	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	6p22.3	MYLIP, GMPR	rs2142672-C	0.74	2E-8		0.01	[0.007-0.015] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
709	chr6	16256042	16256043	rs10484358	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	6p22.3	MYLIP, GMPR, ATXN1	rs10484358-T	0.0827112	1E-6	(% improvement - SSRI treated - 2 weeks)	0.4258	[0.25-0.6] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
709	chr6	16288191	16288192	rs6459467	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p22.3	GMPR	rs6459467-A	0.39	2E-16	(hypoxanthine)	0.02	[0.014-0.026] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
709	chr6	16294721	16294722	rs7765828	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	6p22.3	GMPR	rs7765828-G	0.402	3E-10		0.55	[0.37-0.73] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
709	chr6	16343055	16343056	rs9383153	22780124	Lind PA	2012-07-11	Addict Biol	Genome-wide association study of a quantitative disordered gambling trait.	Gambling	1,312 European ancestry twins from 894 families	NA	6p22.3	ATXN1, GMPR	rs9383153-A	0.948	5E-6		0.331	[0.19-0.47] unit increase	Illumina [2373249] (imputed)	N
712	chr6	16700059	16700060	rs73725220	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6p22.3	NR	rs73725220-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
712	chr6	16742032	16742033	rs697739	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	6p22.3	ATXN1	rs697739-A	NR	4E-6	(age of onset)	2.04	[1.18-2.90] years decrease	Illumina [288357]	N
716	chr6	17241153	17241154	rs1322846	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	6p22.3	RBM24	rs1322846-?		6E-7	(AA)			Illumina [NR]	N
716	chr6	17283320	17283321	rs3749855	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	6p22.3	RBM24	rs3749855-?		5E-6	(MCRI)	0.52	[0.28-0.76] unit decrease	Illumina [693128]	N
717	chr6	17422535	17422536	rs10485376	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	6p22.3	CAP2	rs10485376-?	NR	2E-6			[NR]	Illumina [283437]	N
718	chr6	17505943	17505944	rs910039	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	6p22.3	CAP2	rs910039-?	NR	2E-6	(% Change in score)	0.13	[NR] unit increase	Illumina [~ 7000000] (imputed)	N
719	chr6	17633060	17633061	rs2274136	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p22.3	NUP153	rs2274136-G	0.228	5E-6	(TC )	0.03	[NR] mg/dL increase	Illumina [899892]	N
719	chr6	17633060	17633061	rs2274136	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p22.3	NUP153	rs2274136-G	0.228	3E-6	(LDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
720	chr6	17699321	17699322	rs12199222	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p22.3	NUP153, CAP2, KIF13A	rs12199222-T	0.33	7E-7		4.4	[2.64-6.16] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
720	chr6	17813824	17813825	rs10456809	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	6p22.3	KIF13A	rs10456809-?	NR	5E-6	(rs10086908)	1.25	[1.14-1.38]	Affymetrix, Illumina [1117531] (imputed)	N
728	chr6	18791722	18791723	rs41441749	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	6p22.3	intergenic	rs41441749-?	NR	1E-6	(binary)			Perlegen [429981]	N
729	chr6	18991558	18991559	rs664154	25869804	Ibrahim-Verbaas CA	2015-04-14	Mol Psychiatry	GWAS for executive function and processing speed suggests involvement of the CADM2 gene.	Information processing speed	Up to 30,807 European ancestry individuals, up to 1,267 Erasmus Rucphen Family individuals, up to 535 Korkulan individuals, up to 417 Orcadian individuals, up to 311 Vis individuals	Up to 8,436 European ancestry individuals, up to 1,444 African American individuals	6p22.3	RP1-239K6.1	rs664154-A	0.24	5E-7	(LDST/DSST - age and sex adjusted)	5.03	[NR] unit increase	Affymetrix, Illumina [up to 2357391] (imputed)	N
730	chr6	19078273	19078274	rs2842385	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	6p22.3	LOC101928519	rs2842385-?	NR	8E-6		0.0311	[0.017-0.045] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
731	chr6	19236108	19236109	rs6931743	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p22.3	NR	rs6931743-?	NR	2E-6	(AA)	0.9262	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
733	chr6	19443934	19443935	rs16882214	23354978	Rinella ES	2013-01-25	Hum Genet	Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.	Breast cancer	477 Ashkenazi Jewish cases, 524 Ashkenazi Jewish controls	203 Ashkenazi Jewish cases, 263 Ashkenazi Jewish contols	6p22.3	intergenic	rs16882214-?	0.81	2E-6	(Meta P value)	1.43	[NR]	Affymetrix [435632]	N
735	chr6	19677823	19677824	rs9366309	25221879	Wu K	2014-09-15	Am J Respir Crit Care Med	Genome-wide Interrogation of Longitudinal FEV1 in Children with Asthma.	Pulmonary function in asthmatics	510 European ancestry	NA	6p22.3	intergenic	rs9366309-T	0.37	7E-6	(Baseline FEV1)	0.024	[NR] unit decrease	Illumina [473680]	N
735	chr6	19785587	19785588	rs7739264	23104006	Nyholt DR	2012-10-28	Nat Genet	Genome-wide association meta-analysis identifies new endometriosis risk loci.	Endometriosis	3,181 European ancestry cases, 8,075 European ancestry controls, 1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls	1,044 Japanese ancestry, 4,017 Japanese ancestry controls	6p22.3	NR	rs7739264-T	0.515	4E-10		1.17	[1.11-1.23]	Illumina [407632]	N
736	chr6	19803767	19803768	rs6907340	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	6p22.3	RNF144B, ID4	rs6907340-A	0.371	2E-7		1.2	[1.12-1.28]	Illumina [580699]	N
736	chr6	19823237	19823238	rs7773456	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p22.3	intergenic	rs7773456-?	NR	7E-7	(Dominant)	1.7544	[1.43-2.17]	Affymetrix, Illumina [1621689] (imputed)	N
736	chr6	19841492	19841493	rs1047014	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p22.3	ID4	rs1047014-T	0.75	2E-13		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
737	chr6	19969637	19969638	rs16883019	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	6p22.3	ID4, LOC729105, MBOAT1	rs16883019-C	0.04	7E-7	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
737	chr6	20015204	20015205	rs11753077	25199915	Broer L	2014-09-08	J Gerontol A Biol Sci Med Sci	GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.	Longevity (90 years and older)	6,036 European ancestry cases, 3,757 European ancestry controls	NA	6p22.3	MBOAT1	rs11753077-T	0.64	8E-6		1.17	1.09-1.26	Affymetrix, Illumina [2500000] (imputed)	N
738	chr6	20105276	20105277	rs1889399	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	6p22.3	NR	rs1889399-?	NR	7E-7		3.488	[2.18-4.8] unit decrease	Illumina [498648]	N
738	chr6	20109591	20109592	rs2457335	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p22.3	MBOAT1	rs2457335-G	0.191	2E-6	(Head circumference )	0.04	[NR] cm increase	Illumina [899892]	N
738	chr6	20156173	20156174	rs1202199	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	6p22.3	intergenic	rs1202199-?	NR	9E-6	(count)			Perlegen [429981]	N
738	chr6	20185050	20185051	rs555017	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6p22.3	MBOAT1	rs555017-T	0.369	4E-6	(Reaction)	0.15	[NR] unit increase	Affymetrix [677643]	N
740	chr6	20382599	20382600	rs1570155	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p22.3	E2F3	rs1570155-A	0.391	4E-6	(Calorimeter activity )	0.04	[NR] counts/d increase	Illumina [899892]	N
741	chr6	20567540	20567541	rs9460521	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p22.3	CDKAL1	rs9460521-A	0.01	8E-6	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
742	chr6	20641335	20641336	rs9348440	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	6p22.3	CDKAL1	rs9348440-A		3E-19	(1-hPG)	0.246	[0.19-0.30] mmol-1 increase	Affymetrix [357789]	N
742	chr6	20652716	20652717	rs9295474	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	6p22.3	CDKAL1	rs9295474-G	0.36	9E-6	(Chinese+Malay+Indian)	1.16	[1.09-1.24]	Illumina [~ 2000000] (imputed)	N
742	chr6	20657344	20657345	rs2328546	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p22.3	NR	rs2328546-?	NR	1E-13	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
742	chr6	20657563	20657564	rs4712523	19734900	Rung J	2009-09-06	Nat Genet	Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.	Type 2 diabetes and other traits	679 European ancestry cases, 697 European ancestry controls	5,579 European ancestry cases, 7,096 European ancestry controls	6p22.3	CDKAL1	rs4712523-G	0.32	2E-12		1.2	[1.14-1.26]	Illumina [392365]	N
742	chr6	20657563	20657564	rs4712523	19401414	Takeuchi F	2009-04-29	Diabetes	Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.	Type 2 diabetes	519 Japanese ancestry cases, 503 Japanese ancestry controls	5,110 Japanese ancestry cases, 6,867 Japanese ancestry controls	6p22.3	CDKAL1	rs4712523-G	0.41	7E-20		1.27	[1.21-1.33]	Illumina [482625]	N
742	chr6	20657864	20657865	rs4712524	18711366	Unoki H	2008-08-17	Nat Genet	SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.	Type 2 diabetes	194 Japanese ancestry cases, 1,558 Japanese ancestry controls	5,324 East Asian ancestry cases, 7,037 East Asian ancestry controls, 4,085 European ancestry cases, 5,302 European ancestry controls	6p22.3	CDKAL1	rs4712524-G	0.42	3E-10		1.22	[1.15-1.31]	Affymetrix [207097]	N
742	chr6	20661033	20661034	rs10946398	19056611	Timpson NJ	2008-12-03	Diabetes	Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.	Type 2 diabetes	958 European ancestry obese cases, 955 European ancestry non-obese cases, 2,938 European ancestry controls	Up to 3,757 European ancestry cases, up to 5,346 European ancestry controls	6p22.3	CDKAL	rs10946398-?	NR	7E-7	(non-obese)	1.18	[1.11-1.26]	Affymetrix [393453]	N
742	chr6	20661033	20661034	rs10946398	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	6p22.3	CDKAL1	rs10946398-C	0.32	1E-8		1.16	[1.10-1.22]	Affymetrix [393453]	N
742	chr6	20661249	20661250	rs7754840	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	6p22.3	CDKAL1	rs7754840-C	0.42	2E-13		1.18	[1.13-1.23]	Illumina [6209637] (imputed)	N
742	chr6	20661249	20661250	rs7754840	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	6p22.3	CDKAL1	rs7754840-C	0.411	7E-10		1.35	[1.23-1.48]	Illumina [2234194] (imputed)	N
742	chr6	20661249	20661250	rs7754840	22233651	Kwak SH	2012-01-10	Diabetes	A genome-wide association study of gestational diabetes mellitus in Korean women.	Diabetes (gestational)	468 Korean ancestry cases, 1,242 Korean ancestry controls	931 Korean ancestry cases, 783 Korean ancestry controls	6p22.3	CDKAL1	rs7754840-C	0.445	7E-16		1.518	[1.372-1.680]	Affymetrix [2188613] (imputed)	N
742	chr6	20661249	20661250	rs7754840	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	6p22.3	CDKAL1	rs7754840-C	0.36	4E-11	(DGI+FUSION+WTCCC)	1.12	[1.08-1.16]	Illumina [315635]	N
742	chr6	20661249	20661250	rs7754840	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Type 2 diabetes	1,464 European ancestry cases, 1,467 European ancestry controls	5,065 European ancestry cases, 5,785 European ancestry controls	6p22.3	CDKAL1	rs7754840-C	0.31	4E-11	(DGI+FUSION+WTCCC)	1.12	[1.08-1.16]	Affymetrix [386731]	N
742	chr6	20665945	20665946	rs7772603	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	6p22.3	CDKAL1	rs7772603-C	0.42	4E-8		0.06	[0.040-0.080] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
742	chr6	20679708	20679709	rs7756992	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p22.3	CDKAL1	rs7756992-G	0.26	2E-26		1.2	[1.16-1.25]	Affymetrix, Illumina [2500000] (imputed)	N
742	chr6	20679708	20679709	rs7756992	17460697	Steinthorsdottir V	2007-04-26	Nat Genet	A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.	Type 2 diabetes	1,399 European ancestry cases, 5,275 European ancestry controls	2,174 European ancestry cases, 7,287 European ancestry controls	6p22.3	CDKAL1	rs7756992-G	0.26	8E-9		1.2	[1.13-1.27]	Illumina [at least 313179]	N
742	chr6	20685485	20685486	rs9356744	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	6p22.3	CDKAL1	rs9356744-?	NR	9E-10		0.057	[0.039-0.075] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
742	chr6	20685485	20685486	rs9356744	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	6p22.3	CDKAL1	rs9356744-T	0.57	5E-13		0.0374	[0.027-0.048] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
742	chr6	20685485	20685486	rs9356744	22344219	Wen W	2012-02-19	Nat Genet	Meta-analysis identifies common variants associated with body mass index in east Asians.	Body mass index	22,762 East Asian ancestry individuals, 2,522 Malay ancestry individuals, 2,431 Chinese, Malay and Asian Indian ancestry individuals	53,215 East Asian ancestry results, 2,118 Malay ancestry individuals	6p22.3	CDKAL1	rs9356744-T	0.58	2E-11		3.39	[1.90-4.88] % increase	Affymetrix, Illumina [2474474] (imputed)	N
742	chr6	20686572	20686573	rs7766070	25483131	Ghassibe-Sabbagh M	2014-12-08	Sci Rep	T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.	Type 2 diabetes	1,384 Lebanese ancestry cases, 1,902 Lebanese ancestry controls	NA	6p22.3	CDKAL1	rs7766070-A	0.29	9E-9		1.38	[1.24-1.54]	Illumina [5891794] (imputed)	N
742	chr6	20686572	20686573	rs7766070	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p22.3	CDKAL1	rs7766070-A	0.27	7E-10	(Lean)	1.26	[1.17-1.35]	NR [NR]	N
742	chr6	20686572	20686573	rs7766070	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p22.3	CDKAL1	rs7766070-A	0.27	6E-11	(Obese)	1.21	[1.14-1.28]	NR [NR]	N
742	chr6	20688120	20688121	rs10440833	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	6p22.3	CDKAL1	rs10440833-A		2E-22		1.25	[1.20-1.31]	Affymetrix, Illumina [2426886] (imputed)	N
742	chr6	20694883	20694884	rs2206734	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	6p22.3	CDKAL1	rs2206734-?		1E-6	(AIRg)	2.05	[1.17-2.93] unit decrease	Illumina [693128]	N
742	chr6	20694883	20694884	rs2206734	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	6p22.3	CDKAL1	rs2206734-C	0.59	1E-11		0.039	[0.027-0.051] unit increase	Illumina [2178018] (imputed)	N
742	chr6	20694883	20694884	rs2206734	21139019	Walsh KM	2010-12-07	Endocr Relat Cancer	A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.	Ileal carcinoids	239 European ancestry cases, 107 European ancestry controls	NA	6p22.3	CDKAL1	rs2206734-?	NR	8E-6		3.45	[2.08-5.56]	Illumina [308330]	N
742	chr6	20703951	20703952	rs6931514	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	6p22.3	CDKAL1	rs6931514-G	0.29	2E-18		0.05	[0.038-0.062] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
742	chr6	20703951	20703952	rs6931514	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	6p22.3	CDKAL1	rs6931514-G	NR	1E-11		1.25	[1.17-1.33]	Affymetrix, Illumina [2202892] (imputed)	N
743	chr6	20717254	20717255	rs9465871	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	(see Zeggini 2007)	6p22.3	CDKAL1	rs9465871-C	0.18	3E-7		1.18	[1.04-1.34]	Affymetrix [469557]	N
743	chr6	20725422	20725423	rs7747752	22290723	Ryu J	2012-01-30	Hum Mutat	Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study.	Glycated hemoglobin levels	4,275 Korean ancestry individuals	3,782 Korean ancestry individuals	6p22.3	CDKAL1	rs7747752-C	0.53	1E-11		0.046	[NR] % decrease	Affymetrix [1693116] (imputed)	N
743	chr6	20728730	20728731	rs6908425	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p22.3	NR	rs6908425-G	0.78	4E-6	(EA)	1.0734457		Affymetrix, Illumina [~ 9000000] (imputed)	N
743	chr6	20728730	20728731	rs6908425	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p22.3	NR	rs6908425-A	0.78	5E-12	(EA)	1.1095867		Affymetrix, Illumina [~ 9000000] (imputed)	N
743	chr6	20728730	20728731	rs6908425	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6p22.3	CDKAL1	rs6908425-C	0.784	1E-8		1.17	[1.11-1.23]	Affymetrix, Illumina [953241] (imputed)	N
743	chr6	20728730	20728731	rs6908425	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	6p22.3	CDKAL1	rs6908425-C	0.78	9E-10		1.21	[NR]	Affymetrix, Illumina [635547] (imputed)	N
743	chr6	20751314	20751315	rs7747724	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	6,911 European ancestry cases, 11,818 European ancestry controls	801 cases, 1,307 controls	6p22.3	NR	rs7747724-?	NR	1E-6		1.11	[1.06-1.16]	Illumina [462190]	N
743	chr6	20766696	20766697	rs4510656	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	6,911 European ancestry cases, 11,818 European ancestry controls	801 cases, 1,307 controls	6p22.3	CDKAL1	rs4510656-C	0.55	7E-7		1.1236	[1.08-1.18]	Illumina [462190]	N
743	chr6	20812587	20812588	rs9358372	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p22.3	NR	rs9358372-G	0.3668	6E-9	(EA)	1.0623451	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
743	chr6	20812587	20812588	rs9358372	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	6p22.3	intergenic	rs9358372-G	0.379	9E-14		1.089	[1.057-1.121]	Affymetrix, Illumina [1230000] (imputed)	N
745	chr6	21027760	21027761	rs12209877	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	6p22.3	CDKAL1	rs12209877-?	NR	2E-6		0.0275	[0.016-0.039] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
746	chr6	21163918	21163919	rs6914598	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	6p22.3	CDKAL1	rs6914598-C	0.32	4E-8		0.1	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
747	chr6	21330292	21330293	rs12198220	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	6p22.3	CDKAL1	rs12198220-T	0.74	2E-7		1.12	[1.07-1.17]	Illumina [1531807] (imputed)	N
747	chr6	21331906	21331907	rs17622252	25827505	Swaminathan S	2015-03-14	J Affect Disord	Characteristics of Bipolar I patients grouped by externalizing disorders.	Bipolar disorder	472 non-externalizing cases, 796 externalizing cases	436 non-externalizing European ancestry cases, 801 externalizing European ancestry cases	6p22.3	CDKAL1	rs17622252-?		4E-6	(externalizing vs. non-externalizing)	1.658	[NR]	Affymetrix [677171]	N
748	chr6	21384612	21384613	rs9466056	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	6p22.3	CDKAL1	rs9466056-A	0.38	3E-13	(FNBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
748	chr6	21384612	21384613	rs9466056	21533022	Duncan EL	2011-04-21	PLoS Genet	Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.	Bone mineral density	900 European ancestry female individuals with low hip bone mineral density, 1,055 European ancestry female individuals with high hip bone mineral density	20,898 European ancestry female individuals	6p22.3	SOX4	rs9466056-G	NR	4E-6	(femoral neck)	0.05	[NR] unit increase	Illumina [2543887] (imputed)	N
748	chr6	21430727	21430730	rs71559680	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p22.3	NR	rs71559680-G	0.53	2E-10	(EA)	1.0647465		Affymetrix, Illumina [~ 9000000] (imputed)	N
748	chr6	21430727	21430730	rs71559680	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p22.3	NR	rs71559680-A	0.53	2E-15	(EA)	1.1003201		Affymetrix, Illumina [~ 9000000] (imputed)	N
748	chr6	21430727	21430728	rs12663356	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p22.3	intergenic	rs12663356-C	0.533	4E-12		1.095	[1.06-1.131]	Affymetrix, Illumina [1230000] (imputed)	N
748	chr6	21455152	21455153	rs9460635	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	6p22.3	intergenic	rs9460635-C		7E-6		0.2238	unit increase	Illumina [5767231] (imputed)	N
751	chr6	21819215	21819216	rs2770102	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p22.3	LINC00340	rs2770102-G	0.459	5E-6	(EA)	0.014	[0.008-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
751	chr6	21824393	21824394	rs2479808	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.3	LOC729161, LOC729177	rs2479808-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
752	chr6	21996859	21996860	rs2078543	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.3	SOX4, PRL	rs2078543-A	NR	2E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
752	chr6	22017737	22017738	rs1928168	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.3	SOX4, PRL	rs1928168-T	NR	2E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
752	chr6	22017737	22017738	rs1928168	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p22.3	AK026189	rs1928168-T	NR	2E-7	(FEV1/FVC)	0.028	[0.018-0.038] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
753	chr6	22075261	22075262	rs10484389	25705159	Hong Y	2014-12-31	Genomics Inform	Genome-wide association study of hepatitis in korean populations.	Hepatitis	1,500 Korean ancestry cases, 1,500 Korean ancestry controls	NA	6p22.3	CASC15	rs10484389-T	NR	2E-8		1.18	[NR]	NR [352000]	N
753	chr6	22078614	22078615	rs4712652	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	6p22.3	PRL	rs4712652-A	0.55	3E-7	(adults)	1.2	[1.02-1.47]	Illumina [308846]	N
753	chr6	22087073	22087074	rs12212674	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	6p22.3	LINC00340	rs12212674-A	0.496	1E-6	(EA, 25 years or older)	1.099	[1.058-1.142]	Affymetrix, Illumina [NR] (imputed)	N
753	chr6	22087073	22087074	rs12212674	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	6p22.3	LINC00340	rs12212674-A	0.134	1E-6		1.086	[1.050-1.123]	Affymetrix, Illumina [NR] (imputed)	N
753	chr6	22125963	22125964	rs4712653	21124317	Wang K	2010-12-01	Nature	Integrative genomics identifies LMO1 as a neuroblastoma oncogene.	Neuroblastoma	1,627 European ancestry child cases, 3,254 European ancestry child controls	624 European ancestry child cases, 2,843 European ancestry child controls	6p22.3	FLJ22536, FLJ44180	rs4712653-C	0.46	8E-17		1.4	[NR]	Illumina [480279]	N
753	chr6	22131928	22131929	rs9295536	22941191	Diskin SJ	2012-09-02	Nat Genet	Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.	Neuroblastoma	2,101 European ancestry cases, 4,202 European ancestry controls	351 European ancestry cases, 780 European ancestry controls, 365 African American cases, 2,491 African American controls	6p22.3	LINC00340, FLJ44180	rs9295536-A	0.430	8E-16		1.357	[NR]	Illumina [426697]	N
753	chr6	22140003	22140004	rs6939340	18463370	Maris JM	2008-05-09	N Engl J Med	Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.	Neuroblastoma	1,032 European ancestry cases, 2,043 European ancestry controls	720 European ancestry cases, 2,128 European ancestry controls	6p22.3	FLJ22536, FLJ44180	rs6939340-G	0.50	9E-15		1.37	[1.27-1.49]	Illumina [464934]	N
754	chr6	22246603	22246604	rs4236016	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6p22.3	SOX4	rs4236016-?	NR	4E-6	(additive, recessive)			Affymetrix [361034]	N
755	chr6	22304203	22304204	rs1341239	21623375	Albagha OM	2011-05-29	Nat Genet	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.	Paget's disease	741 European ancestry cases, 2,699 European ancestry controls	1,474 European ancestry cases, 1,671 European ancestry controls	6p22.3	PRL	rs1341239-T	0.38	4E-6		1.2	[NR]	Illumina [2487078] (imputed)	N
758	chr6	22709738	22709739	rs4712709	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	6p22.3	LOC389370	rs4712709-C		6E-6		0.1	[0.06-0.14] unit increase	Affymetrix [~ 2500000] (imputed)	N
758	chr6	22710040	22710041	rs4712710	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	6p22.3	NR	rs4712710-?		3E-6		0.08	unit increase	Illumina [1211988] (imputed)	N
758	chr6	22713951	22713952	rs7775534	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	6p22.3	HDGFL1	rs7775534-?		1E-6		0.08	unit increase	Illumina [1211988] (imputed)	N
758	chr6	22743402	22743403	rs10498712	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	6p22.3	intergenic	rs10498712-G	0.25	9E-6	(HDL-C)	0.23	[NR] mg/dL increase	Affymetrix [408775]	N
758	chr6	22753046	22753047	rs7356884	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p22.3	intergenic	rs7356884-G	0.073	8E-6	(BMI z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
761	chr6	23077310	23077311	rs9393366	22889924	Scharf JM	2012-08-14	Mol Psychiatry	Genome-wide association study of Tourette's syndrome.	Tourette syndrome	778 European ancestry cases, 4,414 European ancestry controls, 242 Ashkenazi Jewish cases, 354 Ashkenazi Jewish controls, 265 French Canadian founder cases, 196 French Canadian founder controls	211 Latin American cases, 285 Latin American controls	6p22.3	intergenic	rs9393366-A	0.28	8E-6		1.27	[NR]	Illumina [484295]	N
763	chr6	23437675	23437676	rs7771911	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6p22.3	LOC100131805	rs7771911-A		2E-12	(EA)			Illumina [NR]	N
766	chr6	23841131	23841132	rs9466930	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	6p22.3	intergenic	rs9466930-C	0.215	4E-6	(remission - 12 weeks)	1.501	[1.32-1.68]	Affymetrix, Illumina [1200000] (imputed)	N
768	chr6	24062787	24062788	rs146696563	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	6p22.3	NRSN1	rs146696563-T	0.99	4E-6	(Age 20-60 years)	0.2396	[0.14-0.34] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
768	chr6	24078056	24078057	rs9358749	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	6p22.3	NR	rs9358749-T	NR	5E-6	(phenotype 1)	3.27	[NR]	Illumina [> 8000000] (imputed)	N
768	chr6	24078056	24078057	rs9358749	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	6p22.3	NR	rs9358749-T	NR	5E-6	(phenotype 3)	3.27	[NR]	Illumina [> 8000000] (imputed)	N
768	chr6	24107092	24107093	rs6922632	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	6p22.3	NRSN1	rs6922632-A	0.10	4E-6	(2-choice RT)	0.19	[0.11-0.27] unit increase	Illumina [~ 610000]	N
769	chr6	24234932	24234933	rs793834	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	6p22.3	DCDC2	rs793834-A	0.18	3E-6	(2-choice RT)	0.15	[0.09-0.21] unit increase	Illumina [~ 610000]	N
770	chr6	24306386	24306387	rs16889038	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	6p22.3	DCDC2	rs16889038-?	0.08	8E-7	(FEV1 65%)	1.3889	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
770	chr6	24318569	24318570	rs12192947	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	6p22.3	DCDC2	rs12192947-G	0.26	5E-6		0.176	[0.1-0.25] unit decrease	Affymetrix [2366856] (imputed)	N
771	chr6	24441745	24441746	rs9467160	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	6p22.3	GPLD1	rs9467160-A	0.24	1E-11	(ALP)	0.03	[0.024-0.044] U/L increase	Affymetrix, Illumina [up to 496032]	N
771	chr6	24480294	24480295	rs6911965	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	6p22.3	GPLD1	rs6911965-C	0.66	2E-11	(ALP)	0.235	[0.17-0.3] unit decrease	Illumina [561583]	N
771	chr6	24491474	24491475	rs1883415	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	6p22.3	ALDH5A1, GPLD1	rs1883415-C	0.33	6E-26		3.1	[2.50-3.70] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
772	chr6	24544966	24544967	rs16889440	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	6p22.3	KIAA0319	rs16889440-?	0.18	2E-6				Affymetrix, Illumina [1348798]	N
773	chr6	24738386	24738387	rs113731670	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.3	NR	rs113731670-C	NR	2E-6		1.1627907	[NR]	Illumina [7158791] (imputed)	N
773	chr6	24749412	24749413	rs17419851	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	6p22.3	AL133264.1, RP3-369A17.4	rs17419851-?	NR	9E-6				Illumina [874956]	N
774	chr6	24863074	24863075	rs4256430	22554406	Kang SJ	2012-05-03	Genes Brain Behav	Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6.	Electroencephalographic traits in alcoholism	1,560 European ancestry individuals from 117 families	NA	6p22.3	FAM65B	rs4256430-A	0.465	8E-6		0.099	[NR] unit decrease	Illumina [634583]	N
774	chr6	24901860	24901861	rs79014439	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.3	intergenic	rs79014439-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
777	chr6	25170667	25170668	rs73388146	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.3	NR	rs73388146-G	NR	7E-9		1.1494253	[NR]	Illumina [7158791] (imputed)	N
778	chr6	25371368	25371369	rs62392365	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.2	NR	rs62392365-A	NR	4E-15		1.22	[NR]	Illumina [7158791] (imputed)	N
779	chr6	25469330	25469331	rs16890640	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	6p22.2	LRRC16	rs16890640-T	0.79	8E-6	(women)	0.092	[0.051-0.133] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
779	chr6	25486013	25486014	rs13217797	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.2	NR	rs13217797-T	NR	6E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
779	chr6	25488582	25488583	rs2274089	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	LRRC16A	rs2274089-?	NR	5E-6	(serum iron)			Illumina [315887]	N
779	chr6	25488582	25488583	rs2274089	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	LRRC16	rs2274089-?	NR	8E-7	(transferrin saturation)			Illumina [315887]	N
779	chr6	25488582	25488583	rs2274089	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	LRRC16	rs2274089-?	NR	3E-7	(serum transferrin)			Illumina [315887]	N
779	chr6	25533533	25533534	rs12526480	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	6p22.2	LRRC16A	rs12526480-T	0.305	9E-9	(Platelet Count)	4.39	[2.9-5.88] 10^9 L decrease	Affymetrix, Illumina [~ 2200000] (imputed)	N
779	chr6	25548287	25548288	rs441460	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p22.2	LRRC16	rs441460-G	NR	9E-18		3.08	[2.38-3.78] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
780	chr6	25607570	25607571	rs742132	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	6p22.2	SCGN, LRRC16A	rs742132-A	0.70	9E-9		0.05	[0.036-0.072] mg/dl increase	Affymetrix, Illumina [2493963] (imputed)	N
780	chr6	25641199	25641200	rs932316	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	SCGN	rs932316-?	NR	9E-6	(transferrin saturation)			Illumina [315887]	N
781	chr6	25772046	25772047	rs4712972	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	6p22.2	SLC17A4	rs4712972-A	NR	8E-8	(cIMT)	0.0099	[0.01-0.01] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
781	chr6	25773808	25773809	rs2275906	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p22.2	SLC17A1, SLC17A4, HIST1H2AA	rs2275906-G	0.13	9E-6	(men)	0.125	[0.07-0.18] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
781	chr6	25776948	25776949	rs11754288	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p22.2	SLC17A3	rs11754288-A	0.44	2E-12	(X-11469)	0.043	[0.031-0.055] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
781	chr6	25776948	25776949	rs11754288	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	6p22.2	SLC17A4	rs11754288-A	0.43	4E-9	(UA)	0.084	[0.057-0.111] umol/l decrease	Illumina [NR] (imputed)	N
781	chr6	25794430	25794431	rs2762353	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p22.2	SLC17A3	rs2762353-A	0.45	3E-13	(4-androsten-3beta,17beta-diol disulfate 2)	0.03	[0.022-0.038] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
781	chr6	25801318	25801319	rs1165209	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	6p22.2	SLC17A1, SLC17A4	rs1165209-G	0.46	4E-15		0.086	[0.064-0.108] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
781	chr6	25801318	25801319	rs1165209	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p22.2	SLC17A1, SLC17A4	rs1165209-G	0.46	3E-13		0.085	[0.061-0.109] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
781	chr6	25801318	25801319	rs1165209	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p22.2	SLC17A1, SLC17A4	rs1165209-G	0.46	1E-11	(Women)	0.096	[0.069-0.123] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
781	chr6	25813149	25813150	rs1165196	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	6p22.2	SLC17A1, SLC17A4	rs1165196-G	0.46	1E-9	(men)	0.086	[0.059-0.113] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
781	chr6	25813149	25813150	rs1165196	21983786	Sulem P	2011-10-09	Nat Genet	Identification of low-frequency variants associated with gout and serum uric acid levels.	Serum uric acid levels	15,506 European ancestry individuals	NA	6p22.2	SLC17A cluster	rs1165196-A	0.492	3E-6		0.05	[0.03-0.07] s.d. increase	Illumina [15957390] (imputed)	N
781	chr6	25813149	25813150	rs1165196	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	6p22.2	SLC17A1	rs1165196-G	0.46	5E-25	(Urate)	6.21	[5.03-7.39] umol/l decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
781	chr6	25818587	25818588	rs1185567	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6p22.2	SLC17A3	rs1185567-A	0.44	1E-26	(DHEA-S/4-androsten-3beta,17beta-diol disulfate 2)	0.028	[0.022-0.034] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
781	chr6	25818765	25818766	rs1165152	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	6p22.2	SLC17A1, SLC17A4, SLC17A3	rs1165152-G	0.54	1E-7	(women)	0.088	[0.055-0.121] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
781	chr6	25820438	25820439	rs17270561	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	SLC17A1	rs17270561-?	NR	5E-7	(transferrin saturation)			Illumina [315887]	N
782	chr6	25821615	25821616	rs1165151	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	6p22.2	SLC17A1, SLC17A3	rs1165151-T	0.47	7E-70		0.091	[0.081-0.101] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
782	chr6	25821769	25821770	rs17342717	21208937	Pichler I	2011-01-04	Hum Mol Genet	Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.	Iron status biomarkers	Up to 5,633 European ancestry individuals	Up to 3,457 European ancestry individuals	6p22.2	SLC17A1	rs17342717-C	0.93	5E-9	(ferritin)	36.5	[24.27-48.73] ng/ml decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
782	chr6	25821769	25821770	rs17342717	21149283	Oexle K	2010-12-10	Hum Mol Genet	Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.	Iron status biomarkers	Up to 6,616 individuals	NA	6p22.2	HFE	rs17342717-T	NR	9E-10	(ferritin)	0.087	[0.06-0.12] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
782	chr6	25821769	25821770	rs17342717	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6p22.2	SLC17A1	rs17342717-T	0.10	5E-8	(MCH)	0.38	[0.24-0.52] unit increase	Illumina [489421]	N
782	chr6	25823443	25823444	rs1183201	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	6p22.2	SLC17A1	rs1183201-A	0.48	3E-14		0.06	[0.459-0.078] mg/dl decrease	Affymetrix, Illumina [2493963] (imputed)	N
782	chr6	25842950	25842951	rs1408272	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	6p22.2	HFE, SLC17A3	rs1408272-G	0.07	5E-67	(EA, MCH)	0.033	[0.015-0.051] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
782	chr6	25842950	25842951	rs1408272	21149283	Oexle K	2010-12-10	Hum Mol Genet	Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.	Iron status biomarkers	Up to 6,616 individuals	NA	6p22.2	HFE	rs1408272-T	NR	9E-9	(sTfR)	0.038	[0.03-0.05] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
782	chr6	25842950	25842951	rs1408272	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	6p22.2	SLC17A3	rs1408272-G	NR	4E-39		0.02	[0.01-0.02] pg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
782	chr6	25842950	25842951	rs1408272	19853236	Ferreira MA	2009-10-22	Am J Hum Genet	Sequence variants in three loci influence monocyte counts and erythrocyte volume.	Hematology traits	2,538 European ancestry individuals, 3,477 individuals	1,543 individuals	6p22.2	HFE	rs1408272-T	0.94	1E-11	(MCH)	0.32	[0.22-0.42] s.d. decrease	Illumina, Perlegen [~ 2500000] (imputed)	N
782	chr6	25869370	25869371	rs548987	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	6p22.2	SLC17A3	rs548987-C	0.13	1E-8		0.0597	[0.04-0.079] unit increase	Affymetrix, Illumina [2090256] (imputed)	N
782	chr6	25870541	25870542	rs1165205	18834626	Dehghan A	2008-10-01	Lancet	Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.	Urate levels	11,847 European ancestry individuals	11,024 European ancestry individuals, 3,843 African American individuals	6p22.2	SLC17A3	rs1165205-?	0.47	4E-29	(EA)	0.09	[0.07-0.11] SD decrease in serum uric acid level	Affymetrix, Illumina [up to 530683]	N
782	chr6	25874422	25874423	rs13198474	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.2	NR	rs13198474-G	NR	3E-20		1.2195122	[NR]	Illumina [7158791] (imputed)	N
782	chr6	25895574	25895575	rs6910741	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	6p22.2	SLC17A2, SLC17A3	rs6910741-T		2E-6	(EA, MAP, Age 50-59)	0.61	[0.36-0.86] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
782	chr6	25916978	25916979	rs1865760	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p22.2	SLC17A2	rs1865760-T	0.69	2E-13		0.033	[0.019-0.047] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
783	chr6	25997457	25997458	rs12216125	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	TRIM38	rs12216125-?	NR	4E-6	(transferrin saturation)			Illumina [315887]	N
783	chr6	26031612	26031613	rs10484434	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	6p22.2	HIST1H3C, HIST1H4A	rs10484434-?	NR	1E-6				Illumina [990115]	N
784	chr6	26091178	26091179	rs1799945	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p22.2	HFE	rs1799945-G	0.14	8E-12		0.627	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr6	26091178	26091179	rs1799945	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p22.2	HFE	rs1799945-G	0.14	2E-10		0.095	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr6	26091178	26091179	rs1799945	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p22.2	HFE	rs1799945-G	0.14	2E-15		0.457	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr6	26091178	26091179	rs1799945	21208937	Pichler I	2011-01-04	Hum Mol Genet	Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.	Iron status biomarkers	Up to 5,633 European ancestry individuals	Up to 3,457 European ancestry individuals	6p22.2	HFE	rs1799945-C	0.83	3E-9	(iron)	4.95	[3.30-6.60] ug/dl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin saturation)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	6p22.2	HFE	rs1800562-A	0.067	2E-270		0.577	[0.55-0.61] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	6p22.2	HFE	rs1800562-A	0.067	9E-196		0.479	[0.45-0.51] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (iron levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	6p22.2	HFE	rs1800562-A	0.067	3E-97		0.328	[0.30-0.36] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (ferritin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	6p22.2	HFE	rs1800562-A	0.067	2E-38		0.204	[0.17-0.24] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	25224454	Li J	2014-09-15	Hum Mol Genet	Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.	Iron status biomarkers	2,347 African American individuals	329 African American individuals	6p22.2	HFE	rs1800562-A	0.01	2E-6	(TIBC)	24.63	[14.58-34.68] unit decrease	Affymetrix [~ 17000000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p22.2	HFE	rs1800562-A	0.07	8E-14		0.062	[NR] unit decrease	NR [NR] (imputed)	N
784	chr6	26093140	26093141	rs1800562	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p22.2	HFE	rs1800562-A	0.07	2E-12		0.056	[NR] unit decrease	NR [NR] (imputed)	N
784	chr6	26093140	26093141	rs1800562	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	6p22.2	HFE	rs1800562-A	0.0151	4E-6	(Hgb, AA)	0.2388	[0.14-0.34] g/dL increase	Affymetrix, Illumina [NR]	N
784	chr6	26093140	26093141	rs1800562	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	6p22.2	HFE	rs1800562-A	NR	7E-9		0.3558	[0.24-0.48] unit increase	Illumina [544917]	N
784	chr6	26093140	26093141	rs1800562	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p22.2	HFE	rs1800562-A	NR	2E-6	(HGB)	0.1944	[0.11-0.27] unit increase	Illumina [544917]	N
784	chr6	26093140	26093141	rs1800562	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	6p22.2	HFE	rs1800562-A	0.08	5E-12	(FERR)	0.177	[0.13-0.23] mg/l increase	Illumina [NR] (imputed)	N
784	chr6	26093140	26093141	rs1800562	21785125	Traglia M	2011-07-25	J Med Genet	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	Hepcidin levels	1,657 Val Borbera individuals	NA	6p22.2	HFE	rs1800562-?	NR	5E-11	(Tf)	0.51	[0.36-0.66] ng/ml decrease	Illumina [343866]	N
784	chr6	26093140	26093141	rs1800562	21785125	Traglia M	2011-07-25	J Med Genet	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	Hepcidin levels	1,657 Val Borbera individuals	NA	6p22.2	HFE	rs1800562-?	NR	4E-9	(Iron)	0.442	[0.29-0.59] ng/ml increase	Illumina [343866]	N
784	chr6	26093140	26093141	rs1800562	21785125	Traglia M	2011-07-25	J Med Genet	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	Hepcidin levels	1,657 Val Borbera individuals	NA	6p22.2	HFE	rs1800562-?	NR	3E-7	(ferritin)	0.389	[0.24-0.54] ng/ml increase	Illumina [343866]	N
784	chr6	26093140	26093141	rs1800562	21785125	Traglia M	2011-07-25	J Med Genet	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	Hepcidin levels	1,657 Val Borbera individuals	NA	6p22.2	HFE	rs1800562-?	NR	3E-15	(Tf Sat)	0.61	[0.46-0.76] ng/ml increase	Illumina [343866]	N
784	chr6	26093140	26093141	rs1800562	21665994	Kutalik Z	2011-06-10	Hum Mol Genet	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	Alcohol consumption (transferrin glycosylation)	5,181 European ancestry individuals	2,284 European ancestry individauls	6p22.2	HFE	rs1800562-A	0.045	2E-32	(Total transferrin)	0.629	[0.53-0.73] unit decrease	Affymetrix [390631] (imputed)	N
784	chr6	26093140	26093141	rs1800562	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron status biomarkers	336 European ancestry iron deficiency cases, 343 European ancestry controls	71 European ancestry iron deficiency cases, 161 European ancestry controls	6p22.2	HFE	rs1800562-A	NR	6E-10	(Unsaturated iron-binding capacity)	44.27	[NR] ug/dL decrease	Illumina [331060]	N
784	chr6	26093140	26093141	rs1800562	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron status biomarkers	336 European ancestry iron deficiency cases, 343 European ancestry controls	71 European ancestry iron deficiency cases, 161 European ancestry controls	6p22.2	HFE	rs1800562-A	NR	3E-8	(Total iorn-binding capacity)	35.36	[NR] ug/dL decrease	Illumina [331060]	N
784	chr6	26093140	26093141	rs1800562	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6p22.2	HFE	rs1800562-A	0.06	6E-7	(MCV)	1.09	[NR] unit increase	Illumina [489421]	N
784	chr6	26093140	26093141	rs1800562	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6p22.2	HFE	rs1800562-A	0.06	3E-9	(MCH)	0.49	[NR] unit increase	Illumina [489421]	N
784	chr6	26093140	26093141	rs1800562	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6p22.2	HFE	rs1800562-A	0.06	3E-9	(MCH)	0.49	[0.33-0.65] unit increase	Illumina [489421]	N
784	chr6	26093140	26093141	rs1800562	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	6p22.2	HFE	rs1800562-G	0.94	3E-20		0.06	[0.05-0.07] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6p22.2	HFE, HIST1H4C	rs1800562-A	0.06	6E-10		2.22	[1.46-2.98] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p22.2	HFE, HIST1H4C	rs1800562-A	0.06	2E-8		2.16	[1.32-3] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	6p22.2	HFE	rs1800562-A	NR	1E-46		0.01	[0.010-0.014] fl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	6p22.2	HFE	rs1800562-A	NR	6E-19		0.16	[0.13-0.20] g/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hematocrit	24,167 European ancestry individuals	9,456 European ancestry individuals	6p22.2	HFE	rs1800562-A	NR	2E-9		0.31	[0.21-0.41] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	19820699	Benyamin B	2009-10-11	Nat Genet	Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.	Iron status biomarkers	4,818 European ancestry individuals	3,470 European ancestry individuals	6p22.2	HFE	rs1800562-A	0.08	5E-7	(Hgb)	0.2	[0.12-0.28] s.d. increase	Illumina, Perlegen [427037]	N
784	chr6	26093140	26093141	rs1800562	19820699	Benyamin B	2009-10-11	Nat Genet	Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.	Iron status biomarkers	4,818 European ancestry individuals	3,470 European ancestry individuals	6p22.2	HFE	rs1800562-A	0.08	2E-8	(MCV)	0.22	[0.14-0.30] s.d. increase	Illumina, Perlegen [427037]	N
784	chr6	26093140	26093141	rs1800562	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p22.2	HFE	rs1800562-A	NR	1E-23	(MCV)	1.41	[1.13-1.69] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
784	chr6	26093140	26093141	rs1800562	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	HFE	rs1800562-?	NR	4E-15	(transferrin saturation)			Illumina [315887]	N
784	chr6	26093140	26093141	rs1800562	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	HFE	rs1800562-?	NR	4E-11	(serum iron)	0.66	[0.46-0.86] s.d. increase	Illumina [315887]	N
784	chr6	26093140	26093141	rs1800562	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	HFE	rs1800562-?	NR	1E-10	(serum transferrin)	0.68	[0.48-0.88] s.d. decrease	Illumina [315887]	N
784	chr6	26097383	26097384	rs6918586	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.2	NR	rs6918586-T	NR	6E-10		1.07	[NR]	Illumina [7158791] (imputed)	N
784	chr6	26107462	26107463	rs198846	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	6p22.2	HFE	rs198846-G	0.86	2E-12	(Mean Arterial Pressure)	0.478	[0.35-0.61] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
784	chr6	26107462	26107463	rs198846	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	6p22.2	HFE	rs198846-A	0.06	2E-6		0.679	[0.402-0.956] unit increase	Illumina [561583]	N
784	chr6	26107462	26107463	rs198846	19820698	Chambers JC	2009-10-11	Nat Genet	Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.	Hemoglobin	6,316 European ancestry individuals, 9,685 Indian Asian ancestry individuals	5,187 European ancestry individuals, 6,721 Indian Asian ancestry individuals	6p22.2	HFE	rs198846-A	NR	1E-8				Affymetrix, Illumina, Perlegen [NR]	N
784	chr6	26116981	26116982	rs12206204	19414484	Johnson AD	2009-05-04	Hum Mol Genet	Genome-wide association meta-analysis for total serum bilirubin levels.	Bilirubin levels	9,464 individuals	NA	6p22.2	HIST1H2BC	rs12206204-T	0.02	8E-7		0.18	[0.10-0.26] umol/l increase in log(tbil)	Affymetrix, Illumina [2555103] (imputed)	N
784	chr6	26128445	26128446	rs198811	25986216	Toyoda H	2015-05-15	Brain Behav Immun	A polymorphism in CCR1/CCR3 is associated with narcolepsy.	Narcolepsy with cataplexy	409 Japanese ancestry cases, 1,562 Japanese ancestry controls	240 Japanese ancestry cases, 869 Japanese ancestry controls	6p22.2	HIST1H2AC	rs198811-A	0.810	1E-8		1.69	[1.41-2.03]	Affymetrix [525196]	N
784	chr6	26157480	26157481	rs4141885	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p22.2	HIST1H1E	rs4141885-A	0.918	8E-22		0.073	[0.057-0.089] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
784	chr6	26200676	26200677	rs806794	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p22.2	HIST1H2BF	rs806794-A	0.27	8E-37		0.082	[0.066-0.098] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
784	chr6	26200676	26200677	rs806794	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p22.2	HIST1H2BF	rs806794-A	0.71	5E-74		0.06	[0.054-0.066] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
784	chr6	26200676	26200677	rs806794	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p22.2	HIST1H2BF	rs806794-A	0.7	1E-25		1.26	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
784	chr6	26200676	26200677	rs806794	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p22.2	Histone cluster	rs806794-A	0.7	1E-39		0.052	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
785	chr6	26233386	26233387	rs10946808	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	6p22.2	HIST1H1D	rs10946808-?	0.43	6E-12		0.07	[0.04-0.10] s.d. increase	Illumina [229216]	N
785	chr6	26233386	26233387	rs10946808	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p22.2	Histone class 1, Butyrophilin genes	rs10946808-A	0.7	6E-10		5.6	[3.84-7.36] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
785	chr6	26233386	26233387	rs10946808	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	6p22.2	HIST1H1D	rs10946808-G	0.28	4E-17		0.36	[0.26-0.46] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
785	chr6	26272547	26272548	rs61747867	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.2	NR	rs61747867-T	NR	2E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
786	chr6	26409889	26409890	rs41266839	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.2	NR	rs41266839-G	NR	7E-27		1.25	[NR]	Illumina [7158791] (imputed)	N
787	chr6	26500562	26500563	rs13194984	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	BTN1A1	rs13194984-?	NR	6E-8	(transferrin saturation)			Illumina [315887]	N
787	chr6	26510563	26510564	rs1056667	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	6p22.2	intergenic	rs1056667-T	0.628	5E-7		0.023	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
787	chr6	26510563	26510564	rs1056667	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 126,559 European ancestry individuals	NA	6p22.2	BTN1A1	rs1056667-T	0.538	2E-8	(Edu Years)	0.093	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 23218963] (imputed)	N
790	chr6	26914999	26915000	rs62402013	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.2	NR	rs62402013-G	NR	4E-11		1.0752687	[NR]	Illumina [7158791] (imputed)	N
791	chr6	27037079	27037080	rs13194491	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6p22.2	HIST1H2BJ	rs13194491-?	NR	1E-8	(transferrin saturation)			Illumina [315887]	N
791	chr6	27057078	27057079	rs2393911	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	6p22.2	NR	rs2393911-T	NR	5E-7		0.039	[0.023-0.055] unit decrease	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
791	chr6	27072541	27072542	rs55834529	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs55834529-A	NR	9E-27		1.24	[NR]	Illumina [7158791] (imputed)	N
792	chr6	27143882	27143883	rs13194053	19571811	Purcell SM	2009-07-01	Nature	Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.	Schizophrenia	3,322 European ancestry cases, 3,587 European ancestry controls	4,692 European ancestry cases, 15,493 European ancestry controls	6p22.1	MHC	rs13194053-T	0.86	1E-8		1.22		Affymetrix [739995]	N
792	chr6	27143882	27143883	rs13194053	19571809	Shi J	2009-07-01	Nature	Common variants on chromosome 6p22.1 are associated with schizophrenia.	Schizophrenia	2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls	5,327 European ancestry cases, 16,424 European ancestry controls	6p22.1	HIST1H2BJ, SLC17A1, BTN3A2, BTN2A2, BTN3A1, HIST1H2AG, POM121L2, ZNF184, PRSS16, SLC17A3	rs13194053-T	0.82	1E-8	(EA)	1.28	[NR]	Affymetrix [up to 843798]	N
792	chr6	27248930	27248931	rs6932590	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	6p22.1	MHC, PRSS16	rs6932590-T	0.78	1E-12		1.16	[NR]	Illumina [314868]	N
792	chr6	27254966	27254967	rs13217239	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs13217239-T	NR	4E-15		1.09	[NR]	Illumina [7158791] (imputed)	N
793	chr6	27278019	27278020	rs16897515	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p22.1	POM121L2	rs16897515-C	0.16	4E-7	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
794	chr6	27411728	27411729	rs76439045	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6p22.1	NR	rs76439045-?	NR	5E-8				Affymetrix [5486770] (imputed)	N
795	chr6	27560586	27560587	rs10946940	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p22.1	ZNF184	rs10946940-A	0.35	8E-9		1.45	[1.37-1.54]	Illumina [NR]	N
796	chr6	27710164	27710165	rs17693963	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	6p22.1	MHC	rs17693963-?	NR	3E-9	(SCZ vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
796	chr6	27710164	27710165	rs17693963	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	6p22.1	MHC	rs17693963-?		3E-11	(SCZ or BP vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
796	chr6	27710164	27710165	rs17693963	24166486	Sleiman P	2013-10-29	Sci Rep	GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.	Schizophrenia, schizoaffective disorder or bipolar disorder	11,985 European, African American, Asian, other and unknown ancestry schizophrenia cases, 377 European, African American, Asian, other and unknown ancestry schizoaffective disorder cases, 1,032 bipolar disorder cases, 34,676 European, African American, Asian, other and unknown ancestry controls	2652 individuals	6p22.1	MHC	rs17693963-?	0.904	2E-9				Affymetrix, Illumina [NR] (imputed)	N
796	chr6	27710164	27710165	rs17693963	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	6p22.1	MHC	rs17693963-?	NR	3E-11		1.24	[NR]	Affymetrix [745006]	N
797	chr6	27805254	27805255	rs34706883	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs34706883-A	NR	5E-27		1.24	[NR]	Illumina [7158791] (imputed)	N
798	chr6	28020819	28020820	rs172166	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	6p22.1	OR2B7P	rs172166-C	NR	5E-6	(Continous Variable)	0.04	[0.04-0.06] ug/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
799	chr6	28129788	28129789	rs1150668	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	6p22.1	ZNF	rs1150668-G	0.43	2E-7	(Single Height)	0.06	[0.038-0.082] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
800	chr6	28227603	28227604	rs1635	22037552	Yue WH	2011-10-30	Nat Genet	Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2.	Schizophrenia	746 Han Chinese ancestry cases, 1,599 Han Chinese ancestry controls	4,027 Han Chinese ancestry cases, 5,603 Han Chinese ancestry controls	6p22.1	NKAPL	rs1635-?	NR	7E-12		1.28	[1.22-1.37]	Illumina [493203]	N
800	chr6	28306670	28306671	rs13217619	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs13217619-T	NR	2E-29		1.25	[NR]	Illumina [7158791] (imputed)	N
801	chr6	28322295	28322296	rs6903823	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p22.1	ZKSCAN3, ZNF323	rs6903823-G	0.21	2E-10	(FEV1)	0.037	[0.025-0.049] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
804	chr6	28776116	28776117	rs4324798	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p22.1	TRNAA-UGC	rs4324798-A	0.09	2E-8		1.16	[1.09-1.24]	Illumina [515922]	N
805	chr6	28896913	28896914	rs2015436	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	6p22.1	TRIM27	rs2015436-T	0.73	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
805	chr6	28916251	28916252	rs4947339	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	6p22.1	TRIM27	rs4947339-T	0.438	2E-6	(epinehprine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
806	chr6	29084231	29084232	rs3129109	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p22.1	OR2J3	rs3129109-T	0.39	2E-17		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
807	chr6	29180720	29180721	rs9257616	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	6p22.1	OR2J2, TRIM27, ZNF311, OR2W1, OR2B3, LOC651503, OR214J1, OR5V1, OR12D3, OR2J3	rs9257616-G	0.56	3E-7		0.093	[0.058-0.128] unit increase	Illumina [~ 2500000] (imputed)	N
808	chr6	29244218	29244219	rs144447022	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs144447022-G	NR	2E-28		1.25	[NR]	Illumina [7158791] (imputed)	N
808	chr6	29351783	29351784	rs9378134	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	6p22.1	OR12D3	rs9378134-A	0.04	3E-6		0.49	[0.29-0.69] unit increase	Illumina [2675979] (imputed)	N
808	chr6	29355201	29355202	rs3094548	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p22.1	OR12D2	rs3094548-G	NR	1E-7	(FEV1)	0.029	[0.019-0.039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
808	chr6	29356330	29356331	rs9257809	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	6p22.1	OR2D12, OR2D13, MHC	rs9257809-A	0.87	4E-9		1.21	[1.13-1.28]	Illumina [521744]	N
809	chr6	29387002	29387003	rs16894878	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.1	OR12D1P, OR11A1	rs16894878-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
809	chr6	29434413	29434414	rs4713226	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6p22.1	OR2H1	rs4713226-A		2E-8	(AA)			Illumina [NR]	N
809	chr6	29461729	29461730	rs1233491	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	MAS1L	rs1233491-C	0.088	8E-10		2.2	[1.58-3.08]	Affymetrix [906600]	N
810	chr6	29520876	29520877	rs16895057	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	6p22.1	OR2I1P	rs16895057-T	0.95	3E-6		0.153	[0.088-0.218] unit increase	Affymetrix [1532051] (imputed)	N
810	chr6	29526376	29526377	rs11970475	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p22.1	UBD	rs11970475-A	0.19	2E-24		0.07	[0.054-0.086] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
810	chr6	29607045	29607046	rs3095267	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p22.1	intergenic	rs3095267-?	0.81	9E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
810	chr6	29611430	29611431	rs29232	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	GABBR1	rs29232-A	0.46	9E-17		1.67	[1.48-1.88]	Illumina [480365]	N
811	chr6	29626320	29626321	rs2252711	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.1	MOG	rs2252711-T	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
811	chr6	29649546	29649547	rs385492	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs385492-T	NR	1E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
811	chr6	29663888	29663889	rs3131888	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	6p22.1	NR	rs3131888-C	NR	7E-6		1.2820514	[NR]	Illumina [up to 9792010] (imputed)	N
811	chr6	29670260	29670261	rs3129055	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-F	rs3129055-G	0.31	7E-11		1.51	[1.34-1.71]	Illumina [480365]	N
811	chr6	29702509	29702510	rs2523395	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	6p22.1	LOC285830	rs2523395-?	NR	2E-6	(rs1512268)	1.24	[1.14-1.35]	Affymetrix, Illumina [1117531] (imputed)	N
811	chr6	29705658	29705659	rs2523393	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p22.1	HLA-B	rs2523393-A	0.59	1E-17		1.28	[1.18-1.39]	Affymetrix, Illumina [~ 2560000] (imputed)	N
811	chr6	29723160	29723161	rs9258260	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	6p22.1	UBD, HLA-A, HLA-G, HLA-F, MOG, GABBR1, HLA-H	rs9258260-T	0.104	2E-10		1.45	[1.21-1.68]	Affymetrix, Illumina [1060934] (imputed)	N
812	chr6	29828659	29828660	rs2523822	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA	6p22.1	HLA-A	rs2523822-?	NR	2E-10		2.3	[1.80-2.90]	Illumina [822927]	N
812	chr6	29849618	29849619	rs2523809	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-G	rs2523809-T	NR	4E-8		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
812	chr6	29872509	29872510	rs189370103	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p22.1	NR	rs189370103-?	NR	8E-6	(Native Hawaiian)	1.0607	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
813	chr6	29899676	29899677	rs2524005	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p22.1	other genes, MHC	rs2524005-?	NR	5E-7		1.32	[NR]	Affymetrix [745006]	N
813	chr6	29906690	29906691	rs2860580	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p22.1	HLA-A	rs2860580-?	0.62	5E-67		1.72	[1.61-1.82]	Illumina [464328]	N
813	chr6	29913297	29913298	rs1061235	21428769	McCormack M	2011-03-24	N Engl J Med	HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.	Adverse response to carbamapezine	65 European ancestry cases, 3,987 European ancestry controls	80 European ancestry cases, 257 European ancestry controls		HLA-A*3101	rs1061235-?	NR	1E-7		9.12	[4.03-20.65]	Illumina [~ 1200000] (imputed)	N
813	chr6	29918098	29918099	rs2517713	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-A	rs2517713-A	0.62	4E-20		1.88	[1.65-2.15]	Illumina [480365]	N
813	chr6	29920331	29920332	rs9260489	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	HLA-A	rs9260489-G	0.58	2E-22		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
813	chr6	29920331	29920332	rs9260489	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p22.1	HLA-B	rs9260489-T	0.45	1E-11		1.21	[NR]	Affymetrix, Illumina [2529394]	N
813	chr6	29922739	29922740	rs16896742	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p22.1	HLA-A	rs16896742-G	0.38	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
813	chr6	29923837	29923838	rs2571391	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-A	rs2571391-C	NR	1E-15		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
813	chr6	29934162	29934163	rs6935053	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p22.1	HCG9	rs6935053-?	NR	2E-6	(Conditioned on rs9271366)			Illumina [581060]	N
813	chr6	29935249	29935250	rs3893464	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs3893464-G	0.36	2E-20		1.53	[1.39-1.67]	Perlegen [268068]	N
813	chr6	29941942	29941943	rs2523946	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p22.1	NR	rs2523946-C	0.511	5E-11		1.317	[1.217-1.426]	Illumina [3792949] (imputed)	N
813	chr6	29941942	29941943	rs2523946	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p22.1	HLA-A	rs2523946-C	0.50	2E-11		1.21	[1.15-1.28]	Illumina [444882]	N
813	chr6	29942082	29942083	rs3823355	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p22.1	HLA-A, HCG9	rs3823355-T	0.29	9E-23		1.5	[1.39-1.63]	Illumina [520460]	N
813	chr6	29943066	29943067	rs6904029	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6p22.1	HLA-A29.1, HCG9	rs6904029-?		3E-6	(PC3)	0.0464	[NR] unit decrease	Illumina [4167292] (imputed)	N
813	chr6	29970588	29970589	rs7758512	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	HLA-A, ZNRD1, RNF39	rs7758512-?	NR	2E-8	(progression)			Illumina [NR]	N
813	chr6	29973924	29973925	rs4313034	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs4313034-T	0.83	2E-15		1.67	[1.47-1.90]	Perlegen [268068]	N
814	chr6	30017070	30017071	rs6917603	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	6p22.1	PPP1R11	rs6917603-?	NR	3E-29	(XXL-VLDL-P)	0.24	[0.2-0.28] unit decrease	Illumina [~ 7700000] (imputed)	N
814	chr6	30025502	30025503	rs259919	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	ZNRD1, C6orf12	rs259919-?	NR	3E-7	(setpoint)			Illumina [NR]	N
814	chr6	30032521	30032522	rs8321	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs8321-?	NR	8E-9	(5 degree of freedom test)	1.081	[1.04-1.12]	NR [1252901] (imputed)	N
814	chr6	30032521	30032522	rs8321	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p22.1	ZNRD1, RNF39	rs8321-G	NR	5E-7				Illumina [291119]	N
814	chr6	30075863	30075864	rs2023472	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	TRIM31	rs2023472-A	0.38	3E-15		0.03	[0.022-0.038] unit increase	Affymetrix [2500000] (imputed)	N
814	chr6	30078274	30078275	rs2523989	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p22.1	TRIM31	rs2523989-A	NR	2E-8		1.7499		Illumina [514008]	N
814	chr6	30080368	30080369	rs34704616	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6p22.1	XXbac-BPG250I8.13	rs34704616-?	NR	6E-6	(Colorword)			Illumina [up to 563855]	N
814	chr6	30093363	30093364	rs10947055	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6p22.1	TRIM38	rs10947055-?	NR	2E-7	(additive, recessive)			Affymetrix [361034]	N
814	chr6	30119889	30119890	rs9468692	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	TRIM10	rs9468692-?	NR	1E-6	(setpoint)			Illumina [NR]	N
815	chr6	30165272	30165273	rs2523722	22883433	Irish Schizophrenia Genomics Consortium & the Wellcome Trust Case Control Consortium 2	2012-08-07	Biol Psychiatry	Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.	Schizophrenia	1,606 European ancestry cases, 1,794 European ancestry controls	13,195 European ancestry cases, 31,021 European ancestry controls	6p22.1	MHC, TRIM26	rs2523722-G	0.737	1E-16		1.25	[1.12-1.39]	Affymetrix [6212339]	N
815	chr6	30174130	30174131	rs2021722	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs2021722-?	0.789	2E-12	(Modelling analysis)			NR [1252901] (imputed)	N
815	chr6	30174130	30174131	rs2021722	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	6p22.1	TRIM26	rs2021722-C	0.78	2E-12		1.15	[1.11-1.19]	Affymetrix, Illumina [1252901] (imputed)	N
815	chr6	30179421	30179422	rs2844775	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6p22.1	TRIM31, TRIM10, PPP1R11, TRIM40, TRIM15, HLA-A29.1, TRIM26, HCG9, ZNRD1, RNF39	rs2844775-A	0.25	8E-7	(Temperament)	0.15	[NR] unit decrease	Affymetrix [677643]	N
816	chr6	30299244	30299245	rs3094067	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	TRIM39, RPP21	rs3094067-G	0.096	2E-11		2.32	[1.68-3.20]	Affymetrix [906600]	N
816	chr6	30313339	30313340	rs6986	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6p22.1	NR	rs6986-C	0.2277	5E-6	(Trans-16:1n-7, EA)	0.0079	[0.0046-0.0112] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
817	chr6	30537605	30537606	rs3132613	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs3132613-C	0.25	1E-13		1.43	[1.30-1.57]	Perlegen [268068]	N
818	chr6	30666668	30666669	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937946818961625	6E-7	(IGP19)	0.3471	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
818	chr6	30666668	30666669	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937725588025022	3E-6	(IGP74)	0.3262	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
818	chr6	30666668	30666669	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937641317877842	2E-6	(IGP75)	0.3304	[0.19-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
818	chr6	30666668	30666669	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937418950958538	3E-6	(IGP69)	0.3228	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
818	chr6	30666668	30666669	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937308425901202	5E-7	(IGP76)	0.3469	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
819	chr6	30679627	30679628	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107712365538735	8E-6	(IGP65)	0.2214	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
819	chr6	30679627	30679628	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107418420152946	8E-6	(IGP2)	0.2231	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
819	chr6	30679627	30679628	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107325880449438	3E-6	(IGP42)	0.2336	[0.14-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
819	chr6	30736150	30736151	rs12526186	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	6p21.33	intergenic	rs12526186-?	NR	3E-6	(risperidone)	9.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
819	chr6	30737485	30737486	rs3094117	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p21.33	intergenic	rs3094117-?	0.77	2E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
819	chr6	30763290	30763291	rs3131060	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	FLOT1	rs3131060-A	0.112	1E-13		2.3	[1.71-3.11]	Affymetrix [906600]	N
819	chr6	30766944	30766945	rs4587207	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	6p21.33	FLOT1, LINC00243, IER3	rs4587207-G	0.20	2E-8	(EA)	3.14	[2.04-4.24] unit decrease	Affymetrix, Illumina [2033301]	N
819	chr6	30774356	30774357	rs3130783	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	IER3, DDR1	rs3130783-A	0.79	2E-11		1.16	[1.11-1.20]	Affymetrix, Illumina [2442884] (imputed)	N
819	chr6	30782001	30782002	rs886424	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	IER3, DDR1	rs886424-A	NR	3E-14		2.2107		Illumina [514008]	N
819	chr6	30782001	30782002	rs886424	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.33	other genes, MHC	rs886424-?	NR	9E-7		1.37	[NR]	Affymetrix [745006]	N
819	chr6	30795170	30795171	rs7772131	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	6p21.33	C6orf214	rs7772131-?	NR	3E-6	(AA)	6.73	[0.89-12.57] unit decrease	Affymetrix [~ 2300000] (imputed)	N
819	chr6	30797990	30797991	rs7749924	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs7749924-C	0.851598582628062	8E-6	(IGP32)	0.2204	[0.12-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
819	chr6	30799398	30799399	rs9501030	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.33	IER3, GTF2H4, FLOT1, VARS2, MIR588, DDR1	rs9501030-A	NR	4E-6	(Analysis II)			Illumina [313720]	N
820	chr6	30848252	30848253	rs7756521	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	VARS2, DDR1, DPCR1	rs7756521-?	NR	1E-6	(progression)			Illumina [NR]	N
820	chr6	30876151	30876152	rs1052693	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-A	rs1052693-G	0.36	3E-48	(Serum level of C4)	0.1	[0.080-0.120] g/L increase	Illumina [1940245] (imputed)	N
820	chr6	30913457	30913458	rs3132581	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.33	NR	rs3132581-G		2E-7	(Modelling analysis)			NR [1252901] (imputed)	N
820	chr6	30920123	30920124	rs3132580	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	DPCR1	rs3132580-T	0.1379	3E-40		2.74	[NR]	Illumina [242824]	N
821	chr6	30938882	30938883	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
821	chr6	30938882	30938883	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
821	chr6	30947508	30947509	rs3094084	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	MUC21, TRIM39, RPP21	rs3094084-T	0.154	2E-11		2.3	[1.76-3.01]	Affymetrix [906600]	N
821	chr6	30976218	30976219	rs28360974	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	6p21.33	MUC21	rs28360974-?	NR	3E-6	(Afro-Caribbean)	10.13	[3.85-26.67]	Illumina [2485249] (imputed)	N
821	chr6	31002100	31002101	rs7768644	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs7768644-A	0.091	3E-13	(trend)	5.01	[3.1-8.1] (allelic)	Affymetrix [522980]	N
821	chr6	31002615	31002616	rs4248154	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs4248154-C	0.54	1E-13		1.38	[1.27-1.50]	Perlegen [268068]	N
821	chr6	31006854	31006855	rs2844665	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	C6orf205	rs2844665-C	0.62	3E-7		1.54	[1.30-1.82]	Illumina [268914]	N
821	chr6	31016977	31016978	rs2251830	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	HCG22	rs2251830-A	0.36	5E-22		0.053	[0.041-0.065] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
821	chr6	31018406	31018407	rs2517532	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.33	HLA-C, LOC729792, HCG22, C6orf15, DHFRP2, HCP5, HLA-B	rs2517532-G	0.597	1E-8		1.16	[1.10-1.22]	Illumina [870065]	N
821	chr6	31018545	31018546	rs2523864	25813999	Jeong S	2015-04-01	Invest Ophthalmol Vis Sci	Identification of a Novel Mucin Gene HCG22 Associated with Steroid-Induced Ocular Hypertension.	Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)	64 European ancestry individuals	49 European ancestry individuals	6p21.33	HCG22, HLA-A, HLA-B, MUC22	rs2523864-T	0.412	5E-9				Illumina [1545328]	N
821	chr6	31024600	31024601	rs9262631	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9262631-A	0.063	6E-19	(trend)	7.09	[4.32-11.63] (allelic)	Affymetrix [522980]	N
821	chr6	31024807	31024808	rs9262632	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs9262632-G	0.10	1E-8	(AA)	3.1	[NR]	Illumina [1384048] (imputed)	N
821	chr6	31030121	31030122	rs2517510	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs2517510-T		4E-13	(WBC)	0.0129	[0.0094-0.0164] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
821	chr6	31058177	31058178	rs4947296	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	HCG22	rs4947296-?	NR	1E-11		2.57	[1.96-3.37]	Affymetrix [661736]	N
821	chr6	31058177	31058178	rs4947296	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	MUC21, C6orf15	rs4947296-C	0.14	4E-51		1.77	[1.65-1.91]	Illumina [486049]	N
821	chr6	31058339	31058340	rs3130544	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs3130544-A	NR	5E-7	(WBC)	0.0189	[0.011-0.026] unit decrease	Illumina [544917]	N
821	chr6	31058339	31058340	rs3130544	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	6p21.33	NR	rs3130544-A	0.13	2E-90		5.64	[4.77-6.67]	Illumina [274256]	N
821	chr6	31058339	31058340	rs3130544	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3130544-A	0.1238	9E-58		3.34	[NR]	Illumina [242824]	N
822	chr6	31069526	31069527	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		5E-6				NR [~ 3000000] (imputed)	N
822	chr6	31069526	31069527	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		2E-6				NR [~ 3000000] (imputed)	N
822	chr6	31074029	31074030	rs6457327	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.33	C6orf15	rs6457327-C	0.56	7E-6	(FL)	1.47	[1.27-1.72]	Illumina [312768]	N
822	chr6	31074029	31074030	rs6457327	19620980	Skibola CF	2009-07-20	Nat Genet	Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.	Follicular lymphoma	189 European ancestry cases, 592 European controls	456 European ancestry cases, 2,785 European ancestry controls	6p21.33	STG, PSORS1	rs6457327-C	0.62	5E-11		1.69	[1.43-2.00]	Illumina [~ 500000]	N
822	chr6	31081204	31081205	rs2233956	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs2233956-G	0.1813	6E-48		2.77	[NR]	Illumina [242824]	N
822	chr6	31085769	31085770	rs3094212	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	6p21.33	PSORS1C1, CDSN	rs3094212-C	0.35	7E-9		0.07	[0.046-0.094] unit increase	Illumina [561583]	N
822	chr6	31091966	31091967	rs9263688	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9263688-G	0.053	5E-21	(trend)	8.06	[4.86-13.37] (allelic)	Affymetrix [522980]	N
822	chr6	31093586	31093587	rs3815087	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	PSORS1C1	rs3815087-A	0.21	3E-7		1.53	[1.29-1.80]	Illumina [268914]	N
822	chr6	31093586	31093587	rs3815087	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	CDSN	rs3815087-?	NR	8E-8	(progression)			Illumina [NR]	N
822	chr6	31097300	31097301	rs3130559	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1	rs3130559-T	0.2	8E-9	(SP-D)			Illumina [588352]	N
822	chr6	31099576	31099577	rs4959053	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	PSORS1C1	rs4959053-?	.11	2E-20		4.38	[3.20-5.99]	Affymetrix [661736]	N
822	chr6	31100941	31100942	rs3823418	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	PSORS1C1	rs3823418-A	0.15	2E-7		0.026	[0.0084-0.0436] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
822	chr6	31101673	31101674	rs3130564	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	PSORS1C1	rs3130564-T	0.163	4E-10		2.05	[1.56-2.70]	Affymetrix [906600]	N
822	chr6	31101673	31101674	rs3130564	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	PSORS1C1	rs3130564-T	0.1934	1E-42		2.62	[NR]	Illumina [242824]	N
822	chr6	31102963	31102964	rs3132565	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs3132565-A	NR	1E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
822	chr6	31106267	31106268	rs3130573	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.33	PSORS1C1	rs3130573-G	0.32	6E-10		1.25	[1.17-1.35]	Illumina [489814]	N
822	chr6	31106458	31106459	rs1265097	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	PSORS1C1, PSORS1C2	rs1265097-A	0.115	2E-32		0.059	[0.049-0.069] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
822	chr6	31107186	31107187	rs1265093	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1, CCHCR1	rs1265093-A	0.26	6E-9	(SP-D)			Illumina [588352]	N
822	chr6	31107257	31107258	rs2285803	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	6p21.33	PSORS1C1, CCHCR1, TCF19, POU5F1, CDSN	rs2285803-A	0.32	1E-10		1.192	[1.13-1.26]	Illumina [414804]	N
822	chr6	31111355	31111356	rs9263739	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.33	HLA	rs9263739-T	0.15	4E-67		2.73	[2.43-3.07]	Illumina [513923]	N
822	chr6	31118018	31118019	rs1265112	21810746	Chantarangsu S	2011-08-01	Clin Infect Dis	Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.	Nevirapine-induced rash	72 Thai ancestry nevirapine-induced rash HIV cases, 77 Thai ancestry nevirapine-tolerant rash HIV cases	88 Thai ancestry nevirapine-induced rash HIV cases, 145 Thai ancestry nevirapine-tolerant HIV cases	6p21.33	CCHCR1	rs1265112-G	0.06	1E-8		4.36	[2.58-7.36]	Illumina [499730]	N
822	chr6	31118510	31118511	rs130067	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	6p21.33	CCHCR1	rs130067-G	0.21	3E-8		1.05	[1.02-1.09]	NR [2600000] (imputed)	N
822	chr6	31129309	31129310	rs7750641	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	TCF19	rs7750641-T	0.1263	3E-58		3.35	[NR]	Illumina [242824]	N
822	chr6	31130592	31130593	rs1419881	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	TCF19	rs1419881-G	0.55	3E-7		1.12	[1.08-1.18]	Illumina [3680900] (imputed)	N
822	chr6	31130592	31130593	rs1419881	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	TCF19	rs1419881-?	NR	1E-18		1.37	[1.23-1.52]	Illumina [719265]	N
822	chr6	31134887	31134888	rs3130931	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130931-C	0.69	8E-7		1.54	[1.29-1.84]	Illumina [268914]	N
822	chr6	31136452	31136453	rs3130501	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130501-G	0.74	2E-8		1.74	[1.43-2.13]	Illumina [268914]	N
822	chr6	31136713	31136714	rs3132524	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p21.33	TCF19, POU5F1	rs3132524-G		4E-9		1.07	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
822	chr6	31139451	31139452	rs879882	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs879882-?	NR	2E-7	(Conditioned on rs2256183)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
822	chr6	31140046	31140047	rs1265159	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs1265159-T	0.2191	4E-37		2.42	[NR]	Illumina [242824]	N
822	chr6	31142244	31142245	rs3094188	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.33	PSORS1C3	rs3094188-C	0.280	7E-7		1.61	[1.33-1.94]	Illumina [4929034] (imputed)	N
822	chr6	31142244	31142245	rs3094188	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3094188-A	0.63	3E-8		1.59	[1.34-1.88]	Illumina [268914]	N
822	chr6	31143581	31143582	rs3131018	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	PSORS1C3	rs3131018-C	0.625	4E-16	(EA)	2.1	[NR]	Illumina [1384048] (imputed)	N
822	chr6	31155784	31155785	rs1265181	19169255	Zhang XJ	2009-01-25	Nat Genet	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	Psoriasis	1,139 Han Chinese ancestry cases, 1,132 Han Chinese ancestry controls	5,721 Chinese ancestry cases, 7,340 Chinese ancestry controls	6p21.33	MHC	rs1265181-?	NR	2E-208		22.62		Illumina [494902]	N
822	chr6	31168028	31168029	rs6903896	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	6p21.33	NR	rs6903896-?	NR	6E-7	(sneeze)			Illumina [535076]	N
822	chr6	31170527	31170528	rs9263871	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.33	HCG27	rs9263871-G	NR	9E-6	(Dominant)	1.7	[1.35-2.13]	Affymetrix, Illumina [1621689] (imputed)	N
822	chr6	31184195	31184196	rs3869109	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	6p21.33	HCG27, HLA-C	rs3869109-G	NR	1E-9		1.14	[NR]	Affymetrix [~ 5000000] (imputed)	N
822	chr6	31186025	31186026	rs9263963	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9263963-T	0.113293342563644	1E-6	(IGP23)	0.2567	[0.15-0.36] unit increase	Illumina [~ 2500000] (imputed)	N
823	chr6	31197513	31197514	rs3130941	24324648	Yatagai Y	2013-12-04	PLoS One	Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.	IgE levels	967 Japanese ancestry individuals, 213 Japanese ancestry asthmatic individuals	1,894 Japanese ancestry individuals, 580 Japanese ancestry asthmatic individuals	6p21.33	HCG27, HLA-C	rs3130941-C	0.25	1E-10		0.098	unit increase	Illumina [479940]	N
823	chr6	31221667	31221668	rs3095254	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	6p21.33	MHC	rs3095254-C	0.461	8E-9	(Japanese)	0.035	[0.023-0.047] unit increase	Illumina [NR] (imputed)	N
823	chr6	31221667	31221668	rs3095254	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs3095254-C	0.46	6E-11	(monocyte count)	0.074	[0.05-0.09] unit increase	Illumina [2178645] (imputed)	N
823	chr6	31232110	31232111	rs3130542	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.16	9E-7		1.17	[1.10-1.24]	Illumina [3680900] (imputed)	N
823	chr6	31232110	31232111	rs3130542	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.13	9E-14		1.33	[1.23-1.44]	Illumina [490610]	N
823	chr6	31235504	31235505	rs2853953	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs2853953-A	0.9	5E-20		1.47	[1.35-1.59]	Illumina [3680900] (imputed)	N
823	chr6	31238317	31238318	rs9264638	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals			HLA-C	rs9264638-A	0.58	2E-23		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
823	chr6	31240430	31240431	rs2074488	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	HLA-C	rs2074488-T	0.13	2E-10	(SP-D)			Illumina [588352]	N
823	chr6	31241108	31241109	rs13191343	20953186	Huffmeier U	2010-10-17	Nat Genet	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	Psoriatic arthritis	572 European ancestry cases, 888 European ancestry controls	Up to 1,761 European ancestry cases, 3,727 European ancestry controls	6p21.33	HLA-C	rs13191343-T	0.13	2E-72		2.37	[2.16-2.61]	Affymetrix [1585307] (imputed)	N
823	chr6	31242173	31242174	rs2524079	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C3, HCG27, HLA-C, HLA-B	rs2524079-A		1E-11	(Lymphocytes)	0.0148	[0.010-0.019] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
823	chr6	31244959	31244960	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	6E-10		0.23	[NR] unit increase	Illumina [12100000] (imputed)	N
823	chr6	31244959	31244960	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	4E-10		0.25	[NR] unit increase	Illumina [12100000] (imputed)	N
823	chr6	31247202	31247203	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.717	8E-6	(Japanese)	0.013	[0.0071-0.0189] unit decrease	Illumina [NR] (imputed)	N
823	chr6	31247202	31247203	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.348	1E-8	(EA)	0.017	[0.011-0.023] unit decrease	Illumina [NR] (imputed)	N
823	chr6	31247202	31247203	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-?	NR	3E-14		0.0139	[0.010-0.017] unit decrease	Illumina [NR] (imputed)	N
823	chr6	31252395	31252396	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	6E-21	(CD8)	0.31	[0.25-0.37] SD decrease	Illumina [529721]	N
823	chr6	31252395	31252396	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	2E-28	(CD4:CD8)	0.37	[0.31-0.43] SD increase	Illumina [529721]	N
823	chr6	31252924	31252925	rs12191877	20953188	Ellinghaus E	2010-10-17	Nat Genet	Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.	Psoriasis	472 European ancestry cases, 1,146 European ancestry controls	2,668, European ancestry cases, 762 French Canadian founder population cases, 2,585 cases, 3,485 European ancestry controls, 994 French Canadian founder population controls, 2,412 controls	6p21.33	HLA-C	rs12191877-?	NR	4E-32		2.79	[2.35-3.33]	Illumina [2339118] (imputed)	N
823	chr6	31252924	31252925	rs12191877	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	6p21.33	HLA-C	rs12191877-T	0.15	1E-100		2.64	[NR]	Perlegen [~ 2500000] (imputed)	N
823	chr6	31258836	31258837	rs9468925	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA	rs9468925-?	0.617	2E-33		1.35	[1.28-1.41]	Illumina [493909]	N
823	chr6	31263750	31263751	rs2894207	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.33	HLA-C, HLA-B	rs2894207-?	0.82	3E-33		1.64	[1.52-1.75]	Illumina [464328]	N
823	chr6	31265489	31265490	rs2247056	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	HLA-C, HLA-B	rs2247056-T	0.27	4E-12		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
823	chr6	31265489	31265490	rs2247056	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	6p21.33	HLA	rs2247056-T	0.25	2E-15		2.99	[2.17-3.81] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
823	chr6	31271715	31271716	rs9461688	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6p21.33	HLA-C	rs9461688-?	0.31	4E-6	(IL18)			Illumina [496032]	N
823	chr6	31272260	31272261	rs6457374	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	HLA-C	rs6457374-T	0.73	8E-35		0.041	[0.035-0.047] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
823	chr6	31272320	31272321	rs9368677	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.33	HLA-C	rs9368677-G	0.798	1E-17		1.36	[1.27-1.46]	Illumina [606164]	N
823	chr6	31274379	31274380	rs9264942	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.33	NR	rs9264942-?	NR	5E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
823	chr6	31274379	31274380	rs9264942	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.33	PSORS1C1, NFKBIL1, HLA-C, MICB	rs9264942-C	0.378	5E-28		1.145	[1.107-1.184]	Affymetrix, Illumina [1230000] (imputed)	N
823	chr6	31274379	31274380	rs9264942	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-C	rs9264942-C	0.34	3E-35	(EA)	2.9	[NR]	Illumina [1384048] (imputed)	N
823	chr6	31274379	31274380	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-C	0.412	6E-32	(setpoint)	5.3	[NR] % increase	Illumina [NR]	N
823	chr6	31274379	31274380	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-?	NR	6E-12	(progression)			Illumina [NR]	N
823	chr6	31274554	31274555	rs10484554	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6p21.33	HLA-C	rs10484554-?	NR	4E-214		4.66	[4.23-5.13]	Illumina [535475]	N
823	chr6	31274554	31274555	rs10484554	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	HLA-C	rs10484554-T	0.13	6E-8				Illumina [291119]	N
823	chr6	31274554	31274555	rs10484554	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs10484554-T	0.15	2E-39		2.8	[2.40-3.30]	Illumina [305983]	N
823	chr6	31312325	31312326	rs3134792	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3134792-C	0.114	6E-72		3.93	[NR]	Illumina [242824]	N
823	chr6	31312325	31312326	rs3134792	18364390	Capon F	2008-03-25	Hum Mol Genet	Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.	Psoriasis	318 European ancestry cases, 288 European ancestry controls	2,361 European ancestry cases, 1,927 European ancestry controls	6p21.33	HLA-C	rs3134792-?	NR	1E-9				Illumina [~ 408000]	N
823	chr6	31320537	31320538	rs2442719	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.33	HLA-C, HLA-B	rs2442719-A	0.4161	8E-7	(Han)	0.3298	unit decrease	Illumina [up to 528294]	N
823	chr6	31321266	31321267	rs2596500	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs2596500-A	NR	8E-20		1.18	[NR]	Illumina [7158791] (imputed)	N
823	chr6	31322366	31322367	rs3819299	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.33	HLA-B	rs3819299-G	NR	9E-10		5.048	[3.43-6.66] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
823	chr6	31322558	31322559	rs2523608	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs2523608-A	0.59	9E-9		0.02	[0.012-0.028] unit increase	Affymetrix [2500000] (imputed)	N
823	chr6	31322558	31322559	rs2523608	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523608-G	0.326	9E-20	(AA)	2.6	[NR]	Illumina [1384048] (imputed)	N
823	chr6	31322558	31322559	rs2523608	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	6p21.33	HLA-B	rs2523608-?	0.37	3E-6				Illumina [1212217]	N
823	chr6	31322789	31322790	rs2523607	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	6p21.33	HLA-B	rs2523607-A	0.120	2E-10		1.32	[1.21-1.44]	Illumina [8363971] (imputed)	N
823	chr6	31323884	31323885	rs41549217	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	6p21.33	HLA-B, MICA, HCP5, HCG26	rs41549217-T	0.0288	2E-7		4.6582	[4.08-5.24]	Illumina [8809853] (imputed)	N
824	chr6	31327063	31327064	rs2523590	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523590-C	0.164	2E-13	(AA)	2.4	[NR]	Illumina [1384048] (imputed)	N
824	chr6	31327700	31327701	rs9378249	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	6p21.33	NR	rs9378249-?	NR	1E-8	(addtive)			Affymetrix [NR]	N
824	chr6	31331256	31331257	rs2523557	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	HLA-B, MICA	rs2523557-C	0.13	9E-35		7.33	[5.34-10.07]	Illumina [1392644]	N
824	chr6	31332738	31332739	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	7E-6		0.44	[0.24-0.64] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
824	chr6	31332738	31332739	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	2E-7		0.29	[0.17-0.41] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
824	chr6	31335335	31335336	rs17193122	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA-B*38:02	rs17193122-A	0.047	4E-27	(trend)	9.59	[5.78-15.90] (allelic)	Affymetrix [522980]	N
824	chr6	31335900	31335901	rs2922994	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.33	HLA-B, TCF19	rs2922994-G	0.113	2E-9		1.64	[1.39-1.92]	Illumina [611856]	N
824	chr6	31336099	31336100	rs7743761	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	6p21.33	MHC	rs7743761-?	NR	5E-304				Illumina [288662]	N
824	chr6	31336417	31336418	rs9266406	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	MICA, DHFRP2, MICB	rs9266406-?	.40	2E-10		2.29	[1.77-2.95]	Affymetrix [661736]	N
824	chr6	31346821	31346822	rs9266629	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	FGFR3P	rs9266629-C	0.21	4E-10	(SP-D)			Illumina [588352]	N
824	chr6	31347450	31347451	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	7E-9		1.09	[1.06-1.13]	Affymetrix, Illumina [2579389] (imputed)	N
824	chr6	31347450	31347451	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	1E-6	(AA)	1.11	[1.07-1.16]	Affymetrix, Illumina [2579389] (imputed)	N
824	chr6	31350703	31350704	rs1521	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	HLA-B	rs1521-T	0.79	2E-65		1.92	[1.78-2.08]	Illumina [486049]	N
824	chr6	31352112	31352113	rs9266772	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.33	MICA, HLA-C	rs9266772-C	0.1882	3E-12		0.104	[0.075-0.133] unit increase	Illumina [2400000] (imputed)	N
824	chr6	31353328	31353329	rs2596565	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.33	MICA, HLA-B	rs2596565-?		9E-9		1.4	[NR]	Illumina [452367]	N
824	chr6	31354181	31354182	rs6932730	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.33	MICA, HLA-C, HLA-B, MICB	rs6932730-T	0.82	4E-8		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 2500000] (imputed)	N
824	chr6	31354559	31354560	rs13437082	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	6p21.33	HLA-B	rs13437082-?	0.13	5E-8		0.07	[0.04-0.10] s.d. decrease	Illumina [229216]	N
824	chr6	31360254	31360255	rs7751505	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.33	MICA, VARS2	rs7751505-C	0.28	4E-6	(Pubertal growth)	0.07	[0.041-0.099] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
824	chr6	31362309	31362310	rs16899524	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs16899524-C	0.93	1E-8		0.04	[0.026-0.054] unit increase	Affymetrix [2500000] (imputed)	N
824	chr6	31364706	31364707	rs2251396	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	PSORS1C1, MICA, HCP5	rs2251396-T	NR	1E-22		2.2132		Illumina [514008]	N
824	chr6	31365786	31365787	rs4349859	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	6p21.33	HLA-B	rs4349859-A	0.04	1E-200	(less than)			Illumina [2223620] (imputed)	N
824	chr6	31366594	31366595	rs2596542	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.33	MICA	rs2596542-A	0.33	4E-13		1.39	[1.27-1.52]	Illumina [432703]	N
824	chr6	31374261	31374262	rs2857281	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	MICA	rs2857281-C	0.081	1E-37		11.92	[8.16-17.42]	Illumina [1392644]	N
824	chr6	31377586	31377587	rs12175489	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.33	HCP5, HLA-B	rs12175489-A	0.15	2E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
824	chr6	31380528	31380529	rs2256183	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs2256183-A	0.45	8E-29		0.04	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
824	chr6	31390409	31390410	rs2516448	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.33	MICA	rs2516448-?	NR	4E-18		1.42	[1.31-1.54]	Illumina [632668]	N
824	chr6	31391400	31391401	rs4418214	23935489	McLaren PJ	2013-07-25	PLoS Pathog	Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls.	HIV-1 susceptibility	6,334 European ancestry cases, 7,247 European ancestry controls	NA	6p21.33	HLA-C, HLA-B	rs4418214-C	NR	4E-11		1.52		Affymetrix, Illumina [~ 8000000] (imputed)	N
824	chr6	31391400	31391401	rs4418214	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	MICA	rs4418214-C	0.075	1E-34	(EA)	4.4	[NR]	Illumina [1384048] (imputed)	N
824	chr6	31405616	31405617	rs2596466	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	MICA	rs2596466-C	0.07	2E-12		0.05	[0.034-0.066] unit decrease	Affymetrix [2500000] (imputed)	N
824	chr6	31407827	31407828	rs9469003	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	HCP5	rs9469003-C	0.15	2E-9		1.73	[1.44-2.08]	Illumina [268914]	N
824	chr6	31408264	31408265	rs2524276	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	6p21.33	intergenic	rs2524276-?	NR	6E-6				NR [~ 2000000]	N
824	chr6	31424584	31424585	rs9267119	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs9267119-C	NR	1E-6		1.098901	[NR]	Illumina [7158791] (imputed)	N
824	chr6	31429926	31429927	rs3094228	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6p21.33	NR	rs3094228-C		4E-7		1.23	[1.13-1.33]	Affymetrix, Illumina [up to 3437411] (imputed)	N
824	chr6	31431690	31431691	rs2255221	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs2255221-T	0.137	4E-14	(AA)	2.7	[NR]	Illumina [1384048] (imputed)	N
824	chr6	31431779	31431780	rs2395029	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2395029-G	0.032	1E-25	(EA)	5.3	[NR]	Illumina [1384048] (imputed)	N
824	chr6	31431779	31431780	rs2395029	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HCP5, HLA-B	rs2395029-G	0.048	5E-35	(setpoint)	5.8	[NR] % increase	Illumina [NR]	N
824	chr6	31431779	31431780	rs2395029	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HCP5, HLA-B	rs2395029-?	NR	1E-11	(progression)			Illumina [NR]	N
824	chr6	31431779	31431780	rs2395029	19483685	Daly AK	2009-05-31	Nat Genet	HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.	Drug-induced liver injury (flucloxacillin)	58 European ancestry cases, 282 European ancestry controls	NA	6p21.33	HCP5, HLA-B	rs2395029-?	0.05	9E-33		45.0	[19.4-105]	Illumina [866399]	N
824	chr6	31431779	31431780	rs2395029	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	MCCD1, BAT1, TNF, LTB, HCP5, MICB	rs2395029-G	0.03	3E-19		3.47	[2.39-5.04]	Illumina [291119]	N
824	chr6	31431779	31431780	rs2395029	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs2395029-C	0.03	2E-26		4.1	[3.10-5.30]	Illumina [305983]	N
824	chr6	31434110	31434111	rs3094604	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	intergenic	rs3094604-A	0.833	1E-7		1.39	[1.23-1.57]	Illumina [8129524] (imputed)	N
824	chr6	31438389	31438390	rs2596449	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs2596449-A	0.047	2E-13	(trend)	6.35	[3.68-10.96] (allelic)	Affymetrix [522980]	N
824	chr6	31440081	31440082	rs1055569	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Psychotic symptoms and prion disease	Up to 170 cases, 5,200 controls	NA	6p21.33	HCG26	rs1055569-?	0.291	3E-6		2.36	[1.66-3.35]	Illumina [518938]	N
824	chr6	31440668	31440669	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	3E-9		0.0069	[0.0046-0.0092] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
824	chr6	31440668	31440669	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	1E-9		0.0079	[0.0054-0.0105] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
824	chr6	31446795	31446796	rs2248462	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.33	MICB	rs2248462-?	NR	7E-16	(Total cHL)	1.64	[1.45-1.85]	Illumina [502514]	N
824	chr6	31448861	31448862	rs3749946	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	3.8-1, HCG26	rs3749946-A	0.07	2E-15		1.97	[1.66-2.33]	Illumina [480391]	N
824	chr6	31448975	31448976	rs3099844	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	6p21.33	HCG26, MICB	rs3099844-A	0.08	2E-8	(HDL)	0.15	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
824	chr6	31448975	31448976	rs3099844	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	6p21.33	NFKBIL1, LTA, AIF1, TNF, LTB	rs3099844-?	0.11	5E-10		3.34	[2.29-4.89]	Illumina [346110]	N
825	chr6	31472719	31472720	rs2855812	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	MICB	rs2855812-T	NR	2E-7	(FEV1)	0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
825	chr6	31475485	31475486	rs3132468	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	6p21.33	MICB	rs3132468-?	0.13	4E-11		1.34	[1.23-1.46]	Illumina [481342]	N
825	chr6	31481298	31481299	rs2516399	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs2516399-A	0.81	2E-12	(eosinophil count)	0.105	[0.08-0.14] unit increase	Illumina [2178645] (imputed)	N
825	chr6	31499602	31499603	rs3853601	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	6p21.33	BAT1	rs3853601-G	0.12	2E-6		1.13	[1.08-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
825	chr6	31505479	31505480	rs2734583	21912425	Tohkin M	2011-09-13	Pharmacogenomics J	A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.	Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)	14 Japanese ancestry cases, 991 Japanese ancestry controls	NA	6p21.33	PSORS1C1, PSORS1C3, BAT1, HLA-C, MICC, PPIAP9, POLR2LP, CCHCR1, TCF19, HLA-B*5801, HCP5, POU5F1	rs2734583-?	0.0055	2E-8		66.8	[19.8-225.0]	Illumina [890321]	N
825	chr6	31542307	31542308	rs1799964	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6p21.33	HLA-DQA2, LTA, TNF, LST1, LTB	rs1799964-C	0.209	4E-11		1.19	[1.13-1.25]	Affymetrix, Illumina [953241] (imputed)	N
825	chr6	31557790	31557791	rs11575839	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-C	rs11575839-A	0.05	1E-54	(Serum level of C4)	0.23	[0.21-0.25] g/L decrease	Illumina [1940245] (imputed)	N
825	chr6	31568468	31568469	rs2857595	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	NFKBIL1, LTA, NCR3	rs2857595-T	NR	2E-23		2.3765		Illumina [514008]	N
825	chr6	31568468	31568469	rs2857595	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	6p21.33	AIF1, HLA	rs2857595-?	0.50	2E-15		1.3	[1.22-1.39]	Affymetrix [662108]	N
825	chr6	31568468	31568469	rs2857595	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	NCR3	rs2857595-?	NR	8E-8	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
825	chr6	31568468	31568469	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	2E-10	(FEV1/FVC)	0.037	[0.025-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
825	chr6	31568468	31568469	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	1E-6	(FEV1)	0.025	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
825	chr6	31572955	31572956	rs2844479	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	AIF1	rs2844479-A	0.66	3E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
825	chr6	31572955	31572956	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393698650943396	4E-6	(IGP60)	0.151	[0.087-0.215] unit increase	Illumina [~ 2500000] (imputed)	N
825	chr6	31572955	31572956	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393631380483438	4E-6	(IGP6)	0.1506	[0.086-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
825	chr6	31572955	31572956	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393516127507802	9E-6	(IGP61)	0.1445	[0.081-0.208] unit increase	Illumina [~ 2500000] (imputed)	N
825	chr6	31572955	31572956	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393054780607685	7E-6	(IGP58)	0.1476	[0.083-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
825	chr6	31572955	31572956	rs2844479	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	6p21.33	AIF1, NCR3	rs2844479-T	0.68	2E-8		3.58	[2.33-4.83] percentage SD increase	Illumina [305846]	N
825	chr6	31575275	31575276	rs9348876	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	6p21.33	AIF1	rs9348876-T	0.06	3E-6		1.41	[1.22-1.63]	Illumina [508934]	N
826	chr6	31588383	31588384	rs2857693	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	BAT2	rs2857693-T	0.38	3E-29		0.034	[0.028-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
826	chr6	31590897	31590898	rs2736172	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	6p21.33	TNF, MICB	rs2736172-?		4E-6				Affymetrix [545513]	N
826	chr6	31595881	31595882	rs1046080	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6p21.33	PRRC2A	rs1046080-A	0.74	1E-14	(X-11444/X-11470)	0.027	[0.019-0.035] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
826	chr6	31601842	31601843	rs3115663	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT2	rs3115663-G	0.1812	7E-57		3.04	[NR]	Illumina [242824]	N
826	chr6	31602966	31602967	rs1046089	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.33	PRRC2A, BAG6	rs1046089-G	0.34	4E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
826	chr6	31602966	31602967	rs1046089	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	6p21.33	NR	rs1046089-A	0.3492	4E-11		0.1919	[0.13-0.25] years increase	NR [NR]	N
826	chr6	31602966	31602967	rs1046089	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	6p21.33	PRRC2A	rs1046089-A	0.353	2E-16		0.213	[0.16-0.26] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
826	chr6	31616365	31616366	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	2E-11		0.376	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
826	chr6	31616365	31616366	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	1E-10		0.054	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
826	chr6	31616365	31616366	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	3E-11		0.228	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
826	chr6	31620519	31620520	rs3117582	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p21.33	APOM, BAT3	rs3117582-C	0.10	5E-12		1.22	[1.15-1.29]	Illumina [515922]	N
826	chr6	31620519	31620520	rs3117582	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	6p21.33	BAT3	rs3117582-?	NR	4E-10		1.24	[1.16-1.33]	Illumina [511919]	N
826	chr6	31620519	31620520	rs3117582	18978787	Wang Y	2008-11-02	Nat Genet	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.	Lung cancer	5,095 European ancestry cases, 5,200 European ancestry cases	2,448 European ancestry cases, 2,983 European ancestry controls	6p21.33	BAT3, MSH5	rs3117582-C	NR	5E-10		1.24	[1.16-1.33]	Illumina [223891]	N
826	chr6	31622605	31622606	rs805297	21844665	Hu HJ	2011-08-16	Exp Mol Med	Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis.	Rheumatoid arthritis	100 Korean ancestry cases, 600 Korean ancestry controls	578 Korean ancestry cases, 711 Korean ancestry controls	6p21.33	APOM	rs805297-A	0.36	3E-10		1.56	[1.36-1.80]	Affymetrix [300909]	N
826	chr6	31632133	31632134	rs3130618	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	GPANK1	rs3130618-C	0.79	2E-7		1.34	[1.20-1.49]	Illumina [8129524] (imputed)	N
826	chr6	31632133	31632134	rs3130618	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT4	rs3130618-A	0.1811	2E-56		3.03	[NR]	Illumina [242824]	N
826	chr6	31636741	31636742	rs9267531	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	CSNK2B	rs9267531-?	NR	8E-8				Affymetrix [up to 700598]	N
826	chr6	31636741	31636742	rs9267531	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	CSNK2B, MSH5, MICA, MICB	rs9267531-G	0.1	3E-14		2.62	[1.93-3.54]	Affymetrix [906600]	N
827	chr6	31721032	31721033	rs3131379	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	MSH5	rs3131379-?	NR	8E-8				Affymetrix [up to 700598]	N
827	chr6	31721032	31721033	rs3131379	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	6p21.33	HLA region	rs3131379-A	0.1	2E-52		2.36	[2.11-2.64]	Illumina [317501]	N
827	chr6	31778528	31778529	rs2075799	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2075799-T	0.20	6E-97	(Serum level of C4)	0.17	[0.15-0.19] g/L decrease	Illumina [1940245] (imputed)	N
827	chr6	31802464	31802465	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824607758652095	1E-6	(IGP41)	0.1858	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
827	chr6	31802464	31802465	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824401248864668	4E-6	(IGP1)	0.1774	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
827	chr6	31802464	31802465	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.823257144469526	3E-7	(IGP19)	0.1964	[0.12-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
827	chr6	31802540	31802541	rs9368699	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	SNORD52	rs9368699-?	NR	5E-8	(progression)			Illumina [NR]	N
827	chr6	31803129	31803130	rs17201248	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs17201248-T	0.092	3E-7	(trend)	3.48	[2.09-5.81] (allelic)	Affymetrix [522980]	N
827	chr6	31826704	31826705	rs67682613	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs67682613-G	NR	7E-19		1.1494253	[NR]	Illumina [7158791] (imputed)	N
827	chr6	31837065	31837066	rs11966200	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA-C, HLA-B	rs11966200-A	0.06	1E-48		1.9	[1.74-2.07]	Illumina [493909]	N
827	chr6	31838712	31838713	rs494620	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	6p21.33	NR	rs494620-?	NR	5E-7		0.3	[0.18-0.42] years increase	Illumina [315418]	N
827	chr6	31842597	31842598	rs12661281	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	6p21.33	SLC44A4	rs12661281-?	NR	1E-11		1.27	[NR]	Illumina [4471719] (imputed)	N
827	chr6	31843923	31843924	rs2736428	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	6p21.33	SLC44A4	rs2736428-T	NR	3E-6		0.05	[0.03-0.07] kb increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
828	chr6	31851233	31851234	rs652888	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	EHMT2	rs652888-G	0.24	1E-6		1.14	[1.08-1.19]	Illumina [3680900] (imputed)	N
828	chr6	31851233	31851234	rs652888	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	EHMT2	rs652888-?	NR	7E-13		1.38	[1.22-1.57]	Illumina [719265]	N
828	chr6	31851233	31851234	rs652888	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	EHMT2	rs652888-C	0.2021	3E-46		2.71	[NR]	Illumina [242824]	N
828	chr6	31867252	31867253	rs9267663	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	6p21.33	EHMT2	rs9267663-T	NR	6E-6		0.29	[0.16-0.42] unit decrease	Illumina [628922]	N
828	chr6	31870325	31870326	rs558702	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.33	C2	rs558702-A	0.1	8E-21		2.276	[2.097-2.47]	Illumina [NR]	N
828	chr6	31870855	31870856	rs9267665	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.33	HLA	rs9267665-?	NR	1E-17		2.05	[1.64-2.57]	Illumina [455508]	N
828	chr6	31883678	31883679	rs9267673	21105107	Clifford RJ	2010-12-01	Hepatology	Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.	Hepatocellular carcinoma	180 Korean ancestry cases, 271 Korean ancestry controls	206 Korean ancestry cases, 416 East Asian ancestry controls,	6p21.33	C2	rs9267673-?	0.08	2E-6		1.97	[1.47-2.64]	Affymetrix [658897]	N
828	chr6	31903803	31903804	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	C2	rs9332739-?	0.955	1E-6		2.63	[1.79-3.85]	Affymetrix, Illumina [6036699] (imputed)	N
828	chr6	31903803	31903804	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	C2	rs9332739-?	0.955	2E-8		2.08	[1.61-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
828	chr6	31903803	31903804	rs9332739	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	C2	rs9332739-?	0.96	2E-23		2.17	[NR]	Affymetrix [6036699] (imputed)	N
828	chr6	31906009	31906010	rs9380272	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs9380272-A	0.012	2E-8		4.31	[2.76-6.87]	Illumina [~ 2500000] (imputed)	N
828	chr6	31914178	31914179	rs12614	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	CFB	rs12614-T	0.92	1E-34		1.89	[1.69-2.08]	Illumina [3680900] (imputed)	N
828	chr6	31914179	31914180	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	CFB	rs641153-?	0.899	2E-9		2.13	[1.69-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
828	chr6	31914179	31914180	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	CFB	rs641153-?	0.899	1E-17		2.22	[1.85-2.63]	Affymetrix, Illumina [6036699] (imputed)	N
828	chr6	31914179	31914180	rs641153	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	CFB	rs641153-?	0.90	6E-31		1.85	[NR]	Affymetrix [6036699] (imputed)	N
828	chr6	31914179	31914180	rs641153	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	6p21.33	CFB, C2	rs641153-?	NR	2E-20				Affymetrix [632932]	N
828	chr6	31916950	31916951	rs541862	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.33	CFB	rs541862-T	0.99	9E-17		1.89	[1.61-2.17]	Illumina [2272849] (imputed)	N
828	chr6	31917539	31917540	rs4151657	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	CFB, BAT2, MSH5, HSPA1L, SLC44A4	rs4151657-G	0.29	5E-14		1.54	[1.38-1.73]	Illumina [480391]	N
828	chr6	31918859	31918860	rs1270942	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	BAT2, HSPA1L, CFB, TNXB, NOTCH4	rs1270942-C	NR	5E-25		3.0494		Illumina [514008]	N
828	chr6	31919916	31919917	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (extreme sampling)	720 European ancestry grade 5 cases, 513 European ancestry grade 1 controls	70 European ancestry grade 5 cases, 73 European ancestry grade 1 controls	6p21.33	RDBP, CFB, DKFZp779M0311	rs522162-?	0.93	3E-7		2.38	[1.69-3.33]	Affymetrix [2543887] (imputed)	N
828	chr6	31919916	31919917	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	RDBP, CFB, ATF6B, STK19	rs522162-?	0.93	2E-10		2.33	[1.82-3.03]	Affymetrix [2543887] (imputed)	N
828	chr6	31930350	31930351	rs2734331	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p21.33	SKIV2L	rs2734331-A	0.97	7E-13	(X-11470)	0.073	[0.053-0.093] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
828	chr6	31930440	31930441	rs592229	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	6p21.33	HLA	rs592229-G	0.43	2E-8		0.048	[0.030-0.066] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
828	chr6	31930440	31930441	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370399655280899	4E-6	(IGP42)	0.1536	[0.088-0.219] unit increase	Illumina [~ 2500000] (imputed)	N
828	chr6	31930440	31930441	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370283129554656	9E-6	(IGP2)	0.1479	[0.083-0.213] unit increase	Illumina [~ 2500000] (imputed)	N
828	chr6	31930461	31930462	rs429608	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	CFB, C2	rs429608-G	0.86	4E-89		1.74	[1.68-1.79]	Affymetrix, Illumina [2442884] (imputed)	N
828	chr6	31930461	31930462	rs429608	20861866	Kopplin LJ	2010-09-23	Genes Immun	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Age-related macular degeneration	684 European ancestry cases, 188 European ancestry controls	1,896 European ancestry cases, 1,866 European ancestry controls	6p21.33	BF, SKIV2L	rs429608-?	NR	5E-15		1.85	[NR]	Affymetrix [> 361556] (imputed)	N
828	chr6	31930461	31930462	rs429608	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs429608-G	0.842	3E-21		2.16	[1.84-2.53]	Illumina [~ 2500000] (imputed)	N
828	chr6	31933160	31933161	rs406936	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	SKIV2L	rs406936-?	0.10	7E-7		1.75	[1.41-2.17]	Affymetrix [2543887] (imputed)	N
828	chr6	31940896	31940897	rs389884	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	CFB, STK19, ZBTB12	rs389884-C	0.0953	2E-8	(EA, WBC)	0.0254	[0.017-0.034] unit decrease	Illumina [544917]	N
828	chr6	31940896	31940897	rs389884	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs389884-C	0.1148	8E-66		3.65	[NR]	Illumina [242824]	N
829	chr6	32006895	32006896	rs6455	26385043	Kertai MD	2015-06-17	Am Heart J	Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery.	Postoperative atrial fibrillation in coronary artery bypass grafting surgery	620 European ancestry cases, 257 European ancestry controls	220 cases, 84 controls	6p21.33	CYP21A2	rs6455-G	0.015	3E-6		1.96	[0.51-7.58]	Illumina [524975]	N
829	chr6	32019745	32019746	rs2857009	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2857009-G	0.20	1E-22	(Serum level of C4)	0.08	[0.060-0.100] g/L increase	Illumina [1940245] (imputed)	N
829	chr6	32026807	32026808	rs12198173	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	TNXB	rs12198173-?	NR	3E-6	(progression)			Illumina [NR]	N
829	chr6	32044850	32044851	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	3E-9		0.68	[0.44-0.92] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
829	chr6	32044850	32044851	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	6p21.33	CYP21A2	rs2021783-C	0.79	4E-11				Affymetrix, Illumina [2485448] (imputed)	N
829	chr6	32044850	32044851	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	2E-12		0.49	[0.35-0.63] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
829	chr6	32050066	32050067	rs185819	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.33	HLA class III	rs185819-T	0.52	3E-8		5.2	[3.44-6.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
829	chr6	32050757	32050758	rs1150754	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.33	TNXB	rs1150754-A	0.13	6E-29	(anti-dsDNA +)	2.21	[1.93-2.53]	Illumina [421318] (imputed)	N
829	chr6	32059866	32059867	rs1150753	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	TNXB	rs1150753-?	NR	6E-9				Affymetrix [up to 700598]	N
829	chr6	32070068	32070069	rs41268896	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	c6orf10	rs41268896-A	NR	4E-8		1.298	[1.238-1.361]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
829	chr6	32071007	32071008	rs41268902	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs41268902-A	NR	5E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
829	chr6	32071016	32071017	rs3117181	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p21.32	TNXB	rs3117181-C	NR	5E-7	(DPA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
829	chr6	32074803	32074804	rs12153855	23886662	Weidinger S	2013-07-25	Hum Mol Genet	A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.	Atopic dermatitis	1563 European ancestry cases, 4,054 European ancestry controls	2,286 European ancestry cases, 3,160 European ancestry controls	6p21.32	TNXB, CREBL1	rs12153855-T	NR	3E-14		1.581	[1.405-1.779]	Illumina [2406139] (imputed)	N
829	chr6	32074803	32074804	rs12153855	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	TNXB	rs12153855-C	0.011	1E-9		1.44	[1.28-1.63]	Illumina [2272849] (imputed)	N
829	chr6	32076498	32076499	rs2269426	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	6p21.32	MHC	rs2269426-T	0.76	3E-6	(EA)	4.6	[2.7-6.6] % standard unit increase	Illumina [312179]	N
829	chr6	32079566	32079567	rs17207986	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.32	MHC	rs17207986-G	NR	1E-16	(Analysis III)	3.95	[NR]	Illumina [313720]	N
829	chr6	32109978	32109979	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	4E-11		0.0266	[0.019-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
829	chr6	32109978	32109979	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	3E-9	(EA)	0.025	[0.017-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
829	chr6	32109978	32109979	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
829	chr6	32109978	32109979	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
829	chr6	32109978	32109979	rs204999	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs204999-G	0.2643	9E-40		2.44	[NR]	Illumina [242824]	N
830	chr6	32114514	32114515	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196796488164359	4E-6	(IGP18)	0.1779	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
830	chr6	32114514	32114515	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.19676420855615	4E-6	(IGP25)	0.1773	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
830	chr6	32114514	32114515	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196432337204109	4E-8	(IGP23)	0.2111	[0.14-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
830	chr6	32122471	32122472	rs3096696	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	PPT2	rs3096696-A		4E-6		1.478		Affymetrix [NR]	N
830	chr6	32127476	32127477	rs3134950	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	6p21.32	AGPAT1, PPT2	rs3134950-A	0.625	6E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
830	chr6	32127476	32127477	rs3134950	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		6p21.32	EGFL8, AGPAT1, PPT2	rs3134950-A	NR	1E-6		0.0945	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
830	chr6	32134509	32134510	rs3096697	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	EGFL8	rs3096697-T	0.2054	1E-41		2.58	[NR]	Illumina [242824]	N
830	chr6	32136546	32136547	rs1061808	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	6p21.32	AGPAT1	rs1061808-?	NR	8E-10	(proportions)	0.9	[NR] % increase	Illumina [NR] (imputed)	N
830	chr6	32140486	32140487	rs3130284	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	AGPAT1	rs3130284-C	NR	7E-6		1.464		Affymetrix [NR]	N
830	chr6	32146491	32146492	rs3134945	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	RNF5	rs3134945-T	0.2049	2E-40		2.54	[NR]	Illumina [242824]	N
830	chr6	32147156	32147157	rs41268928	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	RNF5, NOTCH4, AGER	rs41268928-C	0.04	3E-16	(EA)	0.69	unit decrease	Affymetrix [up to 9100000] (imputed)	N
830	chr6	32149259	32149260	rs2071288	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	AGER, RNF5, NOTCH4	rs2071288-T	0.1	2E-8	(Blacks)	0.56	unit decrease	Affymetrix [up to 9100000] (imputed)	N
830	chr6	32151442	32151443	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	4E-9	(All)	0.23	[0.15-0.31] unit decrease	Illumina [6900000] (imputed)	N
830	chr6	32151442	32151443	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	5E-9	(%LAA-950, All)	0.14	[-0.07560-0.35560] unit decrease	Illumina [7600000] (imputed)	N
830	chr6	32151442	32151443	rs2070600	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	AGER	rs2070600-?	NR	1E-21	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
830	chr6	32151442	32151443	rs2070600	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	6p21.32	AGER, PPT2	rs2070600-T	0.04	3E-14	(FEV1/FVC)	1.0	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
830	chr6	32151442	32151443	rs2070600	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	6p21.32	AGER	rs2070600-T	0.06	3E-15	(FEV1/FVC)	0.088	[0.066-0.110] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
830	chr6	32155580	32155581	rs204993	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	PBX2	rs204993-A	0.58	2E-15		1.17	[1.12-1.21]	Illumina [458847]	N
830	chr6	32158318	32158319	rs176095	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	GPSM3	rs176095-G	NR	3E-7		1.3020833	[1.18-1.44]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
830	chr6	32158318	32158319	rs176095	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	GPSM3	rs176095-T	0.81	8E-20		1.4	[1.30-1.51]	Illumina [606164]	N
830	chr6	32163747	32163748	rs13215567	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	GPSM3, NOTCH4	rs13215567-A	0.049	1E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
830	chr6	32165443	32165444	rs2071278	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRA	rs2071278-G	0.27	4E-72	(Serum level of C4)	0.13	[0.11-0.15] g/L decrease	Illumina [1940245] (imputed)	N
830	chr6	32171074	32171075	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	5E-7	(EA)	1.25	[NR]	NR [1085772] (imputed)	N
830	chr6	32171074	32171075	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	3E-7		1.25	[NR]	NR [1085772] (imputed)	N
830	chr6	32171682	32171683	rs2071277	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	NOTCH4	rs2071277-C	0.219	2E-11		1.3	[1.20-1.41]	Illumina [2272849] (imputed)	N
830	chr6	32172992	32172993	rs3131296	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	6p21.32	MHC, NOTCH4	rs3131296-G	0.87	2E-10		1.19	[NR]	Illumina [314868]	N
830	chr6	32179895	32179896	rs2071286	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	NOTCH4	rs2071286-?	0.29	2E-8		2.15	[NR]	Illumina [899641]	N
830	chr6	32184344	32184345	rs404860	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	NOTCH4	rs404860-A	0.50	4E-23		1.21	[1.16-1.25]	Illumina [458847]	N
830	chr6	32188382	32188383	rs422951	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	NOTCH4	rs422951-G	0.81	5E-16		1.27	[1.20-1.35]	Illumina [3680900] (imputed)	N
830	chr6	32190027	32190028	rs3132946	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	6p21.32	NR	rs3132946-A	0.12	8E-6		1.38	[1.21-1.57]	Illumina [439828]	N
830	chr6	32190405	32190406	rs443198	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs443198-?	0.63	9E-21	(ACA positive)	1.82	[1.59-2.04]	Illumina [NR] (imputed)	N
830	chr6	32190619	32190620	rs3134931	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		6p21.32	HLA, NOTCH4, C2	rs3134931-T	0.73	1E-8		0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [2397181]	N
830	chr6	32192330	32192331	rs3096702	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	6p21.32	CYP21A2, DOM3Z, FKBPL, HLA-DRB6, HCG23, LOC10029, ATF6B, LOC100293534, AGER, LOC100507547, MIR1236, PPT2, PPT2-EGF, HLA-DRA, PPT2-EGFL8, RNF5, RNF5P1, CFB, RDBP, TNXA, TNXB, HLA-DQB1, NOTCH4, SKIV2L, STK19, GPSM3, PBX2, LOC10050, EGFL8, AGPAT1, C2, C4A, PRRT1, BTNL2, C4B, HLA-DRB5, C6orf10, HLA-DRB1, CYP21A1P, HLA-DQA1	rs3096702-A	0.4	5E-9		1.07	[1.04-1.10]	Illumina [~ 2600000] (imputed)	N
830	chr6	32205044	32205045	rs549182	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	NOTCH4	rs549182-A	0.11	8E-10		1.59	[1.37-1.85]	Illumina [480391]	N
830	chr6	32205109	32205110	rs9267911	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	PBX2, NOTCH4	rs9267911-T	0.479	3E-7		1.5	[1.29-1.76]	Illumina [4929034] (imputed)	N
830	chr6	32208323	32208324	rs424232	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	6p21.32	HLA	rs424232-C		5E-21				Illumina [944512] (imputed)	N
830	chr6	32210798	32210799	rs419132	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6p21.32	HLA-area	rs419132-G	0.2	5E-12		0.056	[0.04-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
830	chr6	32217091	32217092	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-C	0.585	6E-6	(EA)	0.02	[0.012-0.028] unit increase	Illumina [NR] (imputed)	N
830	chr6	32217091	32217092	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-?	NR	3E-8		0.0196	[0.013-0.026] unit decrease	Illumina [NR] (imputed)	N
830	chr6	32217231	32217232	rs9267972	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	C6orf10, NOTCh4	rs9267972-A	NR	2E-6	(Dominant)	1.85	[1.46,2.33]	Affymetrix, Illumina [1621689] (imputed)	N
830	chr6	32218842	32218843	rs3115573	20595679	Feehally J	2010-07-01	J Am Soc Nephrol	HLA has strongest association with IgA nephropathy in genome-wide analysis.	Nephropathy	187 European ancestry child cases, 244 European ancestry cases, 4,980 European ancestry controls	NA	6p21.32	intergenic	rs3115573-?	NR	1E-9		1.62	[1.39-1.90]	Illumina [286200]	N
830	chr6	32218988	32218989	rs9296015	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs9296015-?	0.81	1E-8	(ATA positive)	1.85	[1.49-2.27]	Illumina [NR] (imputed)	N
830	chr6	32218988	32218989	rs9296015	21505073	Terao C	2011-04-19	Hum Mol Genet	The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.	Rheumatoid arthritis	1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls	4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls	6p21.32	HLA locus	rs9296015-?	NR	2E-38				Illumina [241523]	N
830	chr6	32223257	32223258	rs3130320	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	NOTCH4, C6orf10	rs3130320-T	0.39	3E-6	(case-only)	1.39	[1.21-1.60]	Illumina [421318] (imputed)	N
831	chr6	32244626	32244627	rs3130340	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	6p21.32	MHC, C6orf10	rs3130340-T	0.79	1E-7		0.1	[0.06-0.13] s.d. decrease	Illumina [301019]	N
831	chr6	32257565	32257566	rs926070	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	6p21.32	HLA	rs926070-A		4E-8	0.66	1.27	[NR]	Illumina [450000] (imputed)	N
831	chr6	32261251	32261252	rs7775397	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs7775397-G	0.1139	5E-71		3.83	[NR]	Illumina [242824]	N
831	chr6	32282853	32282854	rs6910071	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6p21.32	HLA-DRB1	rs6910071-G	0.22	1E-299		2.88	[2.73-3.03]	Affymetrix, Illumina [~ 2716259] (imputed)	N
831	chr6	32305978	32305979	rs3129900	20639878	Singer JB	2010-07-18	Nat Genet	A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.	Lumiracoxib-related liver injury	31 European ancestry cases, 3 Hispanic cases, 1 case, 176 European, Hispanic and other ancestry controls	79 European ancestry cases, 16 Hispanic ancestry cases, 1 case, 405 European, Hispanic and other ancestry controls	6p21.32	HLA-DRB1	rs3129900-?	0.105	7E-25		7.5	[5.0-11.3]	Affymetrix [682386]	N
831	chr6	32308907	32308908	rs9469099	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	C6orf10	rs9469099-G	0.909	5E-19		1.61	[1.44-1.80]	Illumina [606164]	N
831	chr6	32315726	32315727	rs910049	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	C6orf10	rs910049-A	0.142	9E-11		1.46	[1.28-1.62]	Illumina [431618]	N
831	chr6	32319636	32319637	rs9268301	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	C6orf10	rs9268301-A	0.438	2E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
831	chr6	32321553	32321554	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
831	chr6	32321553	32321554	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
831	chr6	32321553	32321554	rs2395148	18576341	Behrens EM	2008-06-24	Arthritis Rheum	Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.	Arthritis (juvenile idiopathic)	67 European ancestry cases, 1,952 European ancestry controls, 63 cases	NA	6p21.32	HLA-DRB1	rs2395148-?	NR	2E-10		5.37	[3.02-9.56]	Illumina [524684]	N
831	chr6	32325370	32325371	rs13196329	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.32	C6orf10	rs13196329-C	0.02	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
831	chr6	32336186	32336187	rs3129934	22457343	Martinelli-Boneschi F	2012-03-28	Mult Scler	A genome-wide association study in progressive multiple sclerosis.	Multiple sclerosis	197 European ancestry cases, 234 European ancestry controls	379 European ancestry cases, 398 European ancestry controls	6p21.32	C6orf10	rs3129934-T	0.10	7E-16		2.34	[1.90-2.87]	Affymetrix [277866]	N
831	chr6	32336186	32336187	rs3129934	18941528	Comabella M	2008-10-22	PLoS One	Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.	Multiple sclerosis	242 European ancestry cases, 242 European ancestry controls	553 European ancestry cases, 1,033 European ancestry controls	6p21.32	HLA-DRB1	rs3129934-T	NR	9E-11		3.3	[2.3-4.9]	Affymetrix [428867]	N
831	chr6	32336765	32336766	rs3129939	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs3129939-G	0.1772	2E-40		2.6	[NR]	Illumina [242824]	N
831	chr6	32337629	32337630	rs2273017	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.32	MHC	rs2273017-A	0.51	2E-22		1.53	[1.40-1.66]	Perlegen [268068]	N
831	chr6	32338694	32338695	rs3129943	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	C6orf10	rs3129943-T	0.62	3E-15		1.17	[1.12-1.21]	Illumina [458847]	N
831	chr6	32339075	32339076	rs2050190	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	6p21.32	C6orf10	rs2050190-A	NR	7E-7		0.2528	[0.17-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
831	chr6	32341352	32341353	rs9268402	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6p21.32	BTNL2, C6orf10	rs9268402-G	0.59	3E-15		1.16	[1.12-1.20]	Affymetrix [~ 2200000] (imputed)	N
831	chr6	32345282	32345283	rs7758128	21326295	Jin Y	2011-02-17	J Invest Dermatol	Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.	Vitiligo	1,339 European ancestry cases	677 European ancestry cases	6p21.32	BTNL2, C6orf10	rs7758128-A	0.06	8E-11				Illumina [520460]	N
831	chr6	32358269	32358270	rs3117099	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.32	other genes, MHC	rs3117099-?	NR	3E-6		1.25	[NR]	Affymetrix [745006]	N
831	chr6	32358512	32358513	rs3117098	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	BTNL2	rs3117098-G	0.25	5E-12		1.16	[1.11-1.21]	Illumina [458847]	N
831	chr6	32363214	32363215	rs1980493	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	BTNL2	rs1980493-G	NR	2E-20		2.5034		Illumina [514008]	N
831	chr6	32363214	32363215	rs1980493	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	BTNL2	rs1980493-G	0.1656	1E-48		2.87	[NR]	Illumina [242824]	N
831	chr6	32363214	32363215	rs1980493	19287509	Cui J	2009-03-14	Mol Med	Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.	Anti-cyclic Citrullinated Peptide Antibody	531 European ancestry cases	849 European ancestry cases	6p21.32	HLA-DRA, BTNL2	rs1980493-?	0.13	5E-7				Affymetrix [97248]	N
831	chr6	32363815	32363816	rs2076530	22936702	Hofmann S	2012-08-30	Eur Respir J	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.	Sarcoidosis	637 European ancestry cases, 1,233 European ancestry controls	3,121 European ancestry cases, 4,284 European ancestry controls	6p21.32	BTNL2	rs2076530-?	NR	3E-11	(Chronic)			Affymetrix [677619]	N
831	chr6	32363843	32363844	rs9268480	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	BTNL2	rs9268480-G	0.91	3E-6		1.82	[1.43-2.33]	Illumina [513923]	N
831	chr6	32363954	32363955	rs2076529	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p21.32	BTNL2	rs2076529-C	0.43	4E-7		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
831	chr6	32368086	32368087	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	BTNL2	rs3817963-?	NR	8E-6	(OCB positive vs. controls)	1.52	[1.27-1.79]	Illumina [495970]	N
831	chr6	32368086	32368087	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	BTNL2	rs3817963-?	NR	6E-10		1.61	[1.38-1.87]	Illumina [495970]	N
831	chr6	32368086	32368087	rs3817963	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-A	0.315	1E-8		1.3	[1.18-1.42]	Illumina [431618]	N
831	chr6	32368086	32368087	rs3817963	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-G	0.318	3E-10		1.18	[1.12-1.24]	Illumina [538166]	N
831	chr6	32370586	32370587	rs9461741	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.32	BTNL2	rs9461741-C	0.018	4E-15		2.66	[2.08-3.39]	Illumina [611856]	N
831	chr6	32373231	32373232	rs10947261	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs10947261-T	0.294	3E-12		1.36	[1.25-1.49]	Illumina [5664371] (imputed)	N
831	chr6	32373311	32373312	rs10947262	20305777	Nakajima M	2010-03-18	PLoS One	New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.	Knee osteoarthritis	899 Japanese ancestry cases, 3,396 Japanese ancestry controls	167 Japanese ancestry cases, 347 Japanese ancestry controls, 813 European ancestry  cases, 1,071 European ancestry controls,	6p21.32	HLA-DQA2, HLA-DQB1, BTNL2	rs10947262-T	0.42	5E-9		1.31	[1.20-1.44]	Illumina [459393]	N
831	chr6	32373697	32373698	rs3806156	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p21.32	HLA-DRA, BTNL2, HLA-DQA1	rs3806156-T	0.37	7E-19		1.42	[1.32-1.54]	Illumina [520460]	N
832	chr6	32375972	32375973	rs3763309	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	6p21.32	HLA-DRB1	rs3763309-?		2E-124		2.3	[2.14-2.46]	Affymetrix, Illumina [1831729] (imputed)	N
832	chr6	32376347	32376348	rs3763312	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.32	BTNL2, HLA-DRA	rs3763312-A	0.15	6E-6	(Han)	0.4002	unit decrease	Illumina [up to 528294]	N
832	chr6	32376470	32376471	rs3763313	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.32	NOTCH4, BTNL2	rs3763313-?	NR	2E-6	(progression)			Illumina [NR]	N
832	chr6	32376787	32376788	rs3763317	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRB	rs3763317-C	0.37	9E-66	(Serum level of C4)	0.12	[0.10-0.14] g/L increase	Illumina [1940245] (imputed)	N
832	chr6	32379488	32379489	rs9268516	23028483	Ramasamy A	2012-09-28	PLoS One	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Asthma	1,716 European ancestry cases, 16,888 European ancestry controls	4,035 European ancestry cases, 11,251 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268516-T	0.24	1E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 2200000] (imputed)	N
832	chr6	32379735	32379736	rs9405098	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs9405098-A	0.253	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
832	chr6	32381735	32381736	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.517	2E-11		0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
832	chr6	32381735	32381736	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5158	5E-8	(women)	0.0241	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
832	chr6	32381735	32381736	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5154	4E-6	(men)	0.0223	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
832	chr6	32381735	32381736	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.511	4E-11	(EA)	0.0226	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
832	chr6	32381735	32381736	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5107	2E-7	(EA, women)	0.0237	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
832	chr6	32381735	32381736	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5106	5E-6	(EA, men)	0.0226	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
832	chr6	32383049	32383050	rs4959027	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.32	TAP2, HLA-DRA	rs4959027-G	0.82	9E-7	(Pubertal growth)	0.09	[0.057-0.123] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
832	chr6	32383107	32383108	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
832	chr6	32383107	32383108	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
832	chr6	32384720	32384721	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
832	chr6	32384720	32384721	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
832	chr6	32387808	32387809	rs2395163	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	6p21.32	LOC642072	rs2395163-?	NR	3E-11		1.24	[NR]	Illumina [2500000] (imputed)	N
832	chr6	32389142	32389143	rs116869525	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA-DRB1*08:03	rs116869525-T	0.083	1E-8	(trend)	4.16	[2.50-6.90] (allelic)	Affymetrix [522980]	N
832	chr6	32389647	32389648	rs3135363	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DR	rs3135363-?	NR	8E-7		1.51	[1.28-1.78]	Illumina [588026]	N
832	chr6	32389647	32389648	rs3135363	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3135363-C	0.702	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
832	chr6	32389647	32389648	rs3135363	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DR	rs3135363-?	NR	7E-22		1.53	[1.35-1.74]	Illumina [455508]	N
832	chr6	32389647	32389648	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
832	chr6	32389647	32389648	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
832	chr6	32392980	32392981	rs3135350	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	6p21.32	NOTCH4, HLA-DRA, BTNL2	rs3135350-G	0.046	9E-8	(Gliadin)	0.51	[NR] unit increase	Illumina [944565] (imputed)	N
832	chr6	32401078	32401079	rs3129860	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3129860-A	0.231	1E-9		1.36	[1.22-1.49]	Illumina [431618]	N
832	chr6	32401216	32401217	rs3135338	20159113	Jakkula E	2010-02-12	Am J Hum Genet	Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.	Multiple sclerosis	68 Finland founder cases, 136 Finland founder controls	83 Finland founder cases, 365 Finland founder controls 3,285 European ancestry cases, 6,379 European ancestry controls, 1,202 cases, 3,399 controls	6p21.32	HLA	rs3135338-A	0.13	2E-25		3.43	[NR]	Illumina [297343]	N
832	chr6	32406341	32406342	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRA	rs3129871-?	NR	1E-16	(OCB positive vs. controls)	1.98	[1.68-2.32]	Illumina [495970]	N
832	chr6	32406341	32406342	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	HLA-DRA	rs3129871-?	NR	6E-15		1.72	[1.59-1.86]	Illumina [495970]	N
832	chr6	32408526	32408527	rs9268645	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	6p21.32	MHC	rs9268645-?	NR	1E-100				Affymetrix, Illumina [841622] (imputed)	N
832	chr6	32409529	32409530	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	5E-10	(Sporadic)	1.38	[1.24-1.52]	Illumina [811597]	N
832	chr6	32409529	32409530	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	3E-8		1.31	[1.19-1.43]	Illumina [811597]	N
832	chr6	32409529	32409530	rs3129882	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRA	rs3129882-?	0.44	2E-27	(ATA positive)	2.17	[1.88-2.50]	Illumina [NR] (imputed)	N
832	chr6	32409529	32409530	rs3129882	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	6p21.32	HLA-DRA	rs3129882-G	0.40	2E-10		1.26	[1.17-1.35]	Illumina [811597]	N
832	chr6	32411645	32411646	rs7192	22541561	Zhao H	2012-04-26	Am J Hum Genet	A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.	Non-obstructive azoospermia	802 Han Chinese ancestry cases, 1,863 Han Chinese ancestry controls	1,424 Han Chinese ancestry cases, 2,713 Han Chinese ancestry controls	6p21.32	HLA-DRA	rs7192-T	0.26	3E-6		1.29	[NR]	Affymetrix, Illumina [912924]	N
832	chr6	32412434	32412435	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	3E-17		0.045	[NR] unit increase	NR [NR] (imputed)	N
832	chr6	32412434	32412435	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	1E-21		0.048	[NR] unit increase	NR [NR] (imputed)	N
832	chr6	32412434	32412435	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	2E-15		1.83	[1.36-2.3] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
832	chr6	32412434	32412435	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	4E-19		2.31	[1.78-2.84] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
832	chr6	32413050	32413051	rs3135388	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
832	chr6	32413050	32413051	rs3135388	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p21.32	HLA-DRB1	rs3135388-A	0.22	4E-225		2.75	[2.46-3.07]	Affymetrix, Illumina [~ 2560000] (imputed)	N
832	chr6	32413050	32413051	rs3135388	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	6p21.32	HLA-DRA	rs3135388-A	0.23	9E-81		1.99	[1.84-2.15]	Affymetrix [334923]	N
832	chr6	32413458	32413459	rs2227139	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p21.32	intergenic	rs2227139-G	NR	1E-7	(WBC)	0.02	[0.01-0.03] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
832	chr6	32413544	32413545	rs3129889	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3129889-G	0.20	1E-206		2.97	[NR]	Affymetrix, Illumina [2529394]	N
832	chr6	32414272	32414273	rs3129890	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DRA	rs3129890-T	0.61	5E-13		1.15	[1.11-1.20]	Illumina [458847]	N
832	chr6	32424881	32424882	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.72	1E-10	(East Asian)	1.3	[NR]	Illumina [> 1000000] (imputed)	N
832	chr6	32424881	32424882	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	2E-38		1.41	[NR]	Illumina [> 1000000] (imputed)	N
832	chr6	32424881	32424882	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	1E-30	(EA)	1.49	[NR]	Illumina [> 1000000] (imputed)	N
832	chr6	32428284	32428285	rs6903608	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	6p21.32	HLA class II, HLA class I	rs6903608-C	0.30	7E-31		1.64	[1.51-1.78]	Affymetrix, Illumina [1004829] (imputed)	N
832	chr6	32428284	32428285	rs6903608	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	6p21.32	NR	rs6903608-G	0.27	5E-27		1.62	[NR]	Illumina [296129]	N
832	chr6	32428284	32428285	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
832	chr6	32428284	32428285	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
832	chr6	32428284	32428285	rs6903608	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	6p21.32	HLA-DRA	rs6903608-G	0.27	3E-50		1.7	[1.58-1.82]	Illumina [504374]	N
832	chr6	32428771	32428772	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250	(EA)	2.47	[2.39-2.55]	Affymetrix, Illumina [up to 9739303] (imputed)	N
832	chr6	32428771	32428772	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250		2.28	[2.22-2.34]	Affymetrix, Illumina [up to 9739303] (imputed)	N
832	chr6	32428771	32428772	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.44	2E-145	(East Asian)	1.9	[1.81-1.99]	Affymetrix, Illumina [up to 9739303] (imputed)	N
832	chr6	32429642	32429643	rs9268853	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	MHC	rs9268853-T	0.64	3E-6		1.37	[1.20-1.56]	Illumina [581060]	N
832	chr6	32429642	32429643	rs9268853	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	BTLN2, HLA-DRA, HLA-DRB5, HLA-DRB1	rs9268853-C	NR	2E-10	(FL)	1.56	[NR]	Affymetrix [530583]	N
832	chr6	32429642	32429643	rs9268853	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9268853-T	0.66	1E-55		1.4	[1.34-1.47]	Affymetrix, Illumina [~ 1100000] (imputed)	N
832	chr6	32429718	32429719	rs9268856	24943344	Ferrari R	2014-07-01	Lancet Neurol	Frontotemporal dementia and its subtypes: a genome-wide association study.	Frontotemporal dementia	1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls	690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2	rs9268856-C	0.748	6E-9	(All Frontotemporal dementia)	1.24	[1.16-1.32]	Illumina [6026385] (imputed)	N
832	chr6	32431146	32431147	rs9268877	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	6p21.32	MHC	rs9268877-?	NR	4E-23				Affymetrix [NR]	N
832	chr6	32431146	32431147	rs9268877	18836448	Franke A	2008-10-05	Nat Genet	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.	Ulcerative colitis	1,167 European ancestry cases, 777 European ancestry controls	1,855 European ancestry cases, 3,091 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268877-T	0.45	6E-18		1.45	[1.33-1.58]	Affymetrix [355262]	N
832	chr6	32432076	32432077	rs9268905	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	6p21.32	HLA-DRA	rs9268905-C	0.32	1E-7				Illumina [~ 2609000] (imputed)	N
832	chr6	32432834	32432835	rs9268923	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	6p21.32	HLA-DRA	rs9268923-C	0.67	4E-15		1.45	[1.33-1.59]	Affymetrix [1897764] (imputed)	N
832	chr6	32433166	32433167	rs2395185	25186300	Terao C	2014-09-03	Arthritis Rheumatol	An association between anti-nuclear antibody and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study.	Antinuclear antibody levels	3,185 Japanese ancestry individuals	3,963 Japanese ancestry individuals	6p21.32	HLA-DRA, HLA-DRB5	rs2395185-?	NR	1E-11		0.25	unit increase	Illumina [303506]	N
832	chr6	32433166	32433167	rs2395185	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	6p21.32	HLA class II	rs2395185-T	0.35	1E-8		1.17	[1.11-1.23]	Illumina [596032]	N
832	chr6	32433166	32433167	rs2395185	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.32	HLA-DRA	rs2395185-?	NR	4E-31	(Total cHL)	1.82	[1.67-2.00]	Illumina [502514]	N
832	chr6	32433166	32433167	rs2395185	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	6p21.32	C6orf10, BTNL2, HLA	rs2395185-G	NR	9E-23		1.49	[NR]	Illumina [266047]	N
832	chr6	32433166	32433167	rs2395185	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	intergenic	rs2395185-G	0.61	5E-22		1.92	[1.68-2.19]	Illumina [513923]	N
832	chr6	32433166	32433167	rs2395185	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, BTNL2, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs2395185-?	0.67	1E-16		1.52		Illumina [280748]	N
832	chr6	32444197	32444198	rs12194148	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs12194148-?	NR	5E-58	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
832	chr6	32444543	32444544	rs12195582	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	6p21.32	HLA	rs12195582-T	0.465	5E-100		1.78	[1.69-1.88]	Illumina [up to 21554489]	N
832	chr6	32446716	32446717	rs7453498	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	6p21.32	intergenic	rs7453498-C	0.8656	3E-6	(Complete)	0.8142	[0.47-1.16] unit increase	Affymetrix, Illumina [NR] (imputed)	N
832	chr6	32448598	32448599	rs7748270	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	MHC	rs7748270-T	0.525	4E-13	(all cases vs. all controls)	1.7361	[NR]	Affymetrix [3441843] (imputed)	N
832	chr6	32448598	32448599	rs7748270	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	MHC	rs7748270-T	0.525	1E-16	(ACPA+ cases vs. all controls)	2.01	[NR]	Affymetrix [3441843] (imputed)	N
832	chr6	32457959	32457960	rs114067101	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	6p21.32	HLA-area	rs114067101-G	0.09	8E-13		0.091	[0.066-0.116] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
832	chr6	32457959	32457960	rs114067101	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	6p21.32	HLA-area	rs114067101-G	0.09	1E-16		0.102	[0.078-0.126] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
832	chr6	32501143	32501144	rs2157337	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs2157337-?	NR	9E-52	(ACPA-positive RA vs ACPA-negative RA)			Illumina [1723056] (imputed)	N
833	chr6	32520906	32520907	rs3828840	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3828840-?	NR	5E-15	(OCB positive vs. controls)	1.94	[1.64-2.29]	Illumina [495970]	N
833	chr6	32552094	32552095	rs17885382	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	HLA-DRB1	rs17885382-T		3E-6		1.627		Affymetrix [NR]	N
833	chr6	32554934	32554935	rs34075049	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	6p21.32	HLA-DRB1	rs34075049-A	0.0522	9E-6	(Ordinal I)	0.5887	[0.33-0.85] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
833	chr6	32569690	32569691	rs477515	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DRA, BTNL2, HLA-DRB1, C6orf10	rs477515-T	0.442	3E-19		2.05	[1.75-2.41]	Illumina [588026]	N
833	chr6	32569690	32569691	rs477515	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	HLA-DRB1	rs477515-T	0.32	3E-13	(Quantitative)	0.28	[NR] unit decrease	Illumina [944565]	N
833	chr6	32569690	32569691	rs477515	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	6p21.32	HLA-DQA1	rs477515-?	0.69	1E-8		1.38	[1.23-1.54]	Illumina [NR]	N
833	chr6	32572250	32572251	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
833	chr6	32572250	32572251	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
833	chr6	32573470	32573471	rs9270965	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9270965-?	NR	5E-12		1.72	[NR]	Affymetrix [603382]	N
833	chr6	32573628	32573629	rs602875	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs602875-A	0.68	5E-27		1.61	[1.39-1.61]	Illumina [491883]	N
833	chr6	32573990	32573991	rs9270984	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6p21.32	HLA-DRB1	rs9270984-T	0.18	5E-24		1.73		Illumina [2100739] (imputed)	N
833	chr6	32574059	32574060	rs9270986	25643325	Renton AE	2015-04-01	JAMA Neurol	A Genome-wide Association Study of Myasthenia Gravis.	Myasthenia gravis	972 European ancestry cases, 1,977 European ancestry controls	423 European ancestry cases, 467 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9270986-A	0.15	6E-8		1.43	[NR]	Illumina [8114394] (imputed)	N
833	chr6	32574170	32574171	rs615672	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	HLA-DRB1	rs615672-?	NR	8E-27				Affymetrix [469557]	N
833	chr6	32575657	32575658	rs3021304	25108386	Hou S	2014-08-10	Nat Genet	Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.	Vogt-Koyanagi-Harada syndrome	774 Han Chinese ancestry cases, 2,009 Han Chinese ancestry controls	764 Han Chinese ancestry cases, 3594 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3021304-G	0.346	1E-118		2.97	[2.71-3.26]	Affymetrix, Illumina [2208258] (imputed)	N
833	chr6	32575734	32575735	rs9461776	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	HLA-DQA1, HLA-DRB1	rs9461776-G	0.29	7E-9		2.02	[NR]	Illumina [899641]	N
833	chr6	32576477	32576478	rs9271100	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs9271100-T	0.217	8E-95		1.68	[NR]	Illumina [4577171] (imputed)	N
833	chr6	32576477	32576478	rs9271100	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs9271100-?	NR	1E-12		1.9	[1.59-2.27]	Illumina [493955]	N
833	chr6	32576794	32576795	rs9271117	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9271117-?	NR	6E-14		1.75	[NR]	Affymetrix [603382]	N
833	chr6	32577379	32577380	rs660895	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p21.32	NR	rs660895-G	0.259	1E-10		1.289	[1.184-1.402]	Illumina [3792949] (imputed)	N
833	chr6	32577379	32577380	rs660895	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs660895-G	0.24	4E-20		1.34	[1.26-1.42]	Illumina [444882]	N
833	chr6	32577379	32577380	rs660895	17804836	Plenge RM	2007-09-05	N Engl J Med	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.	Rheumatoid arthritis	1,522 European ancestry cases, 1,850 European ancestry controls	1,053 European ancestry cases, 1,858 European ancestry controls	6p21.32	HLA-DRB1	rs660895-?	0.21	1E-108		3.62	[NR]	Illumina [297086]	N
833	chr6	32578081	32578082	rs674313	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DRB5	rs674313-T	0.26	7E-9		1.69	[1.41-2.01]	Affymetrix [827777]	N
833	chr6	32578529	32578530	rs9271192	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	6p21.32	HLA-DRB5, HLA-DRB1	rs9271192-C	0.276	3E-12		1.11	[1.08-1.18]	Illumina [7055881] (imputed)	N
833	chr6	32579034	32579035	rs9271209	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.32	NR	rs9271209-?	NR	2E-85	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
833	chr6	32581888	32581889	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-6	(LYM)	1.29	[1.16-1.43]	Affymetrix [530583]	N
833	chr6	32581888	32581889	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-12	(FL)	1.93	[NR]	Affymetrix [530583]	N
833	chr6	32581888	32581889	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	2E-8	(NHL)	1.37	[1.23-1.54]	Affymetrix [530583]	N
833	chr6	32581888	32581889	rs4530903	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs4530903-?	NR	5E-6	(Negative/disorganized symptoms)	0.0919	[NR] unit increase	Affymetrix [696491]	N
833	chr6	32583741	32583742	rs9271348	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271348-?		5E-7		1.2821	[NR]	Illumina [452367]	N
833	chr6	32586853	32586854	rs9271366	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9271366-A	0.888	5E-12		1.66	[1.44-1.92]	Illumina [5664371] (imputed)	N
833	chr6	32586853	32586854	rs9271366	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271366-G	0.11	1E-18		2.1	[1.78-2.48]	Illumina [581060]	N
833	chr6	32586853	32586854	rs9271366	21699788	Okada Y	2011-06-20	Gastroenterology	HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.	Ulcerative colitis or Crohn's disease	372 Japanese ancestry Crohn's disease cases, 372 Japanese ancestry ulcerative colitis cases	607 Japanese ancestry Crohn's disease cases, 376 Japanese ancestry ulcerative colitis cases	6p21.32	MHC, HLA-DRB1	rs9271366-C	0.21	2E-70	(UC vs. CD)	4.44	[3.74-5.27]	Illumina [461368]	N
833	chr6	32586853	32586854	rs9271366	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-?	0.85	3E-33		7.69	[5.26-11.11]	Illumina [2057134] (imputed)	N
833	chr6	32586853	32586854	rs9271366	20598377	Nischwitz S	2010-06-30	J Neuroimmunol	Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.	Multiple sclerosis	590 European ancestry cases, 825 European ancestry controls	NA	6p21.32	DQA1	rs9271366-G	NR	4E-17		2.62	[2.09-3.28]	Illumina [~ 300000]	N
833	chr6	32586853	32586854	rs9271366	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-G	0.15	7E-184		2.78	[NR]	Illumina [302098]	N
833	chr6	32589265	32589266	rs35597309	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	6p21.32	HLA	rs35597309-A	0.072	1E-7		1.19	[1.12-1.27]	Affymetrix, Illumina [7556215] (imputed)	N
833	chr6	32590924	32590925	rs3129763	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3129763-?	0.25	1E-11	(ATA positive)	1.65	[1.42-1.91]	Illumina [NR] (imputed)	N
833	chr6	32590952	32590953	rs9271588	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1, c6orf10, BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB6	rs9271588-T	0.532	9E-37		1.75	[1.59-1.89]	Affymetrix [556134]	N
833	chr6	32592199	32592200	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DRB1	rs9271640-A	NR	5E-12		1.56	[1.38-1.77]	NR [485522]	N
833	chr6	32592199	32592200	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
833	chr6	32592199	32592200	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
833	chr6	32592199	32592200	rs9271640	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA1	rs9271640-?	NR	2E-20	(OCB positive vs. controls)	2.37	[1.97-2.84]	Illumina [495970]	N
833	chr6	32592736	32592737	rs28421666	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.32	HLA-DQ, HLA-DR	rs28421666-?	0.88	2E-18		1.49	[1.37-1.64]	Illumina [464328]	N
833	chr6	32595222	32595223	rs9271858	23291585	Fakiola M	2013-01-06	Nat Genet	Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.	Leishmaniasis (visceral)	989 Indian ancestry cases, 1,089 Indian ancestry controls, 357 Brazilian ancestry cases, 1,613 Brazilian ancestry unaffected relatives	951 Indian ancestry cases, 990 Indian ancestry controls	6p21.32	HLA, HLA-DRB1, HLA-DQA1	rs9271858-G	0.39	3E-17		1.41	[1.30-1.52]	Illumina [521134]	N
833	chr6	32599998	32599999	rs9272105	22807686	Li S	2012-07-12	PLoS Genet	GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.	Hepatocellular carcinoma	1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers	4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.45	5E-22		1.28	[1.22-1.35]	NR [523663]	N
833	chr6	32599998	32599999	rs9272105	21502966	Weber F	2011-04-19	Pharmacogenomics J	Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-&#x003b2; therapy in multiple sclerosis patients.	Response to interferon beta therapy	178 European ancestry antibody-positive individuals, 184 European ancestry antibody-negative individuals	350 European ancestry antibody-positive individuals, 468 European ancestry antibody-negative individuals	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.44	4E-10		0.26	[NR] unit increase	Illumina [~ 317000]	N
833	chr6	32600802	32600803	rs9272143	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9272143-?	NR	3E-22		1.49	[1.37-1.61]	Illumina [632668]	N
833	chr6	32602268	32602269	rs9272219	19571809	Shi J	2009-07-01	Nature	Common variants on chromosome 6p22.1 are associated with schizophrenia.	Schizophrenia	2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls	5,327 European ancestry cases, 16,424 European ancestry controls	6p21.32	HLA-DQA1	rs9272219-G	0.72	7E-8	(EA)	1.14	[NR]	Affymetrix [up to 843798]	N
833	chr6	32603006	32603007	rs2040406	20453840	Sanna S	2010-05-09	Nat Genet	Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.	Multiple sclerosis	882 Sardinian cases, 872 Sardinian controls	1,775 Sardinian cases, 2,005 Sardinian controls	6p21.32	HLA-DQB1, HLA-DRB	rs2040406-G	0.26	1E-20		2.05	[NR]	Affymetrix [6607266] (imputed)	N
833	chr6	32604371	32604372	rs9272346	23181788	Lasky-Su J	2012-12-04	Clin Exp Allergy	HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.	Asthma	Up to 1,238 European ancestry cases, up to 2,617 European ancestry controls	Up to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents	6p21.32	HLA-DQA1	rs9272346-?	NR	2E-8	(Adult)			Affymetrix [455089]	N
833	chr6	32604371	32604372	rs9272346	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	6p21.32	HLA	rs9272346-G	NR	6E-129				Affymetrix [up to 335565]	N
833	chr6	32604371	32604372	rs9272346	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	6p21.32	MHC	rs9272346-G	0.61	5E-134		5.49	[4.83-6.24]	Affymetrix [469557]	N
833	chr6	32605883	32605884	rs2187668	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	NR	1E-9				Affymetrix [up to 700598]	N
833	chr6	32605883	32605884	rs2187668	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-T	0.107	4E-10		2.93	[2.18-3.95]	Affymetrix [906600]	N
833	chr6	32605883	32605884	rs2187668	24768677	de Boer YS	2014-04-23	Gastroenterology	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	Autoimmune hepatitis type-1	649 European ancestry cases, 13,436 European ancestry controls	451 European ancestry cases, 4,103 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	0.15	2E-78		2.9	[2.60-3.40]	Illumina [254006]	N
833	chr6	32605883	32605884	rs2187668	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DR3	rs2187668-A	0.12	6E-28	(anti-dsDNA +)	2.23	[1.94-2.57]	Illumina [421318] (imputed)	N
833	chr6	32605883	32605884	rs2187668	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	HLA-DQA1	rs2187668-A	0.1297	8E-93		4.32	[NR]	Illumina [242824]	N
833	chr6	32605883	32605884	rs2187668	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs2187668-A	0.13	2E-33		2.53	[2.17-2.95]	Illumina [2057134] (imputed)	N
833	chr6	32605883	32605884	rs2187668	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs2187668-A	0.26	1E-50		6.23	[5.95-6.52]	Illumina [292387]	N
833	chr6	32605883	32605884	rs2187668	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.11	3E-21				Illumina [502033]	N
833	chr6	32605883	32605884	rs2187668	17558408	van Heel DA	2007-06-10	Nat Genet	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.	Celiac disease	778 European ancestry cases, 1,422 European ancestry controls	991 European ancestry cases, 1,489 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.14	1E-19		7.04	[6.08-8.15]	Illumina [310605]	N
833	chr6	32606755	32606756	rs9272535	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DQA1	rs9272535-A	0.27	9E-8		1.61	[1.35-1.92]	Affymetrix [827777]	N
833	chr6	32612396	32612397	rs6927022	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DQA1	rs6927022-A	0.535	5E-133		1.444	[1.387-1.503]	Affymetrix, Illumina [1230000] (imputed)	N
833	chr6	32625868	32625869	rs9273349	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	6p21.32	HLA-DQ	rs9273349-C	0.58	7E-14		1.18	[1.13-1.24]	Illumina [582892]	N
833	chr6	32626129	32626130	rs7744020	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs7744020-A	0.272	8E-9		1.9	year decrease	Affymetrix [603382]	N
833	chr6	32626271	32626272	rs9273363	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	6p21.32	HLA	rs9273363-A	0.27	2E-10		1.24	[NR]	Illumina [549934]	N
833	chr6	32626310	32626311	rs6906021	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.45	2E-12		1.15	[1.11-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
833	chr6	32626310	32626311	rs6906021	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.4749	7E-15		0.0945	[0.071-0.118] unit increase	Illumina [2400000] (imputed)	N
833	chr6	32626600	32626601	rs9273373	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	6p21.32	HLA-DQB1	rs9273373-G	0.54	4E-14		1.24	[1.17-1.30]	Illumina [up to 4972397] (imputed)	N
833	chr6	32627713	32627714	rs1063355	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DQA1	rs1063355-A	NR	2E-6		1.43	[1.23-1.66]	Illumina [480391]	N
833	chr6	32628427	32628428	rs2854275	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	PSORS1C1, BAT2, EHMT2, HLA-DQB1, C6orf15, BAT4, NOTCH4, PRRT1, HLA-B	rs2854275-T	0.064	2E-10	(Conditional on rs477515 - Quantitative)	0.45	[NR] unit decrease	Illumina [944565]	N
833	chr6	32632831	32632832	rs9274407	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA		HLA-DRB1-DQB1	rs9274407-?	NR	5E-14		3.1	[2.30-4.20]	Illumina [822927]	N
833	chr6	32633712	32633713	rs9274477	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA		NR	rs9274477-G	0.292	2E-8		1.82	year decrease	Affymetrix [603382]	N
833	chr6	32635997	32635998	rs9274623	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs9274623-G	NR	6E-19		1.1363636	[NR]	Illumina [7158791] (imputed)	N
834	chr6	32651539	32651540	rs17212223	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs17212223-T	0.191	3E-8		1.95	year decrease	Affymetrix [603382]	N
834	chr6	32655217	32655218	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
834	chr6	32655217	32655218	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
834	chr6	32657435	32657436	rs3129716	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQB1	rs3129716-?	NR	4E-9				Affymetrix [up to 700598]	N
834	chr6	32657577	32657578	rs7774434	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	6p21.32	MHC	rs7774434-C	0.38	4E-34		1.6	[1.48-1.73]	Illumina [507467]	N
834	chr6	32657577	32657578	rs7774434	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	6p21.32	HLA-DQB1	rs7774434-C	0.371	3E-26		1.75	[NR]	Illumina [276459]	N
834	chr6	32658078	32658079	rs7775228	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	6p21.32	HLA region	rs7775228-C	0.13	2E-9		1.33	[1.21-1.45]	Affymetrix, Illumina [2217510] (imputed)	N
834	chr6	32658078	32658079	rs7775228	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQB1	rs7775228-A	0.63	5E-15		1.17	[1.12-1.21]	Illumina [458847]	N
834	chr6	32658309	32658310	rs9469220	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQB1	rs9469220-G	NR	2E-7		0.09	[0.05-0.12] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
834	chr6	32658309	32658310	rs9469220	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	6p21.32	NR	rs9469220-A	0.48	2E-6		1.14	[0.98-1.32]	Affymetrix [469557]	N
834	chr6	32659877	32659878	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.59	8E-14	(East Asian)	1.38		Illumina [> 1000000] (imputed)	N
834	chr6	32659877	32659878	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-30		1.36	[NR]	Illumina [> 1000000] (imputed)	N
834	chr6	32659877	32659878	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-18	(EA)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
834	chr6	32663630	32663631	rs3129720	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQB1	rs3129720-?	NR	5E-15	(OCB positive vs. controls)	1.91	[1.62-2.24]	Illumina [495970]	N
834	chr6	32663630	32663631	rs3129720	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQB1, HLA-DRB9, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs3129720-C	0.764	5E-7		1.16	(1.10-1.23)	Illumina [870065]	N
834	chr6	32663850	32663851	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
834	chr6	32663850	32663851	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1	rs6457617-A	NR	7E-17		0.127	[NR] unit decrease	NR [485236]	N
834	chr6	32663850	32663851	rs6457617	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DRB1, DQA1, DQB1	rs6457617-T	0.45	7E-33		1.4	[1.32-1.48]	Illumina [486049]	N
834	chr6	32663850	32663851	rs6457617	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.32	HLA, DQB1	rs6457617-T	0.50	2E-37		1.61	[1.49-1.72]	Illumina [489814]	N
834	chr6	32663850	32663851	rs6457617	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	6p21.32	HLA-DQB1	rs6457617-?	0.53	4E-17		1.37	[1.28-1.47]	Illumina [279621]	N
834	chr6	32663850	32663851	rs6457617	18668548	Julia A	2008-08-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.	Rheumatoid arthritis	400 European ancestry cases, 400 European ancestry controls	410 European ancestry cases, 394 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQA1	rs6457617-?	NR	1E-9				Illumina [299918]	N
834	chr6	32663850	32663851	rs6457617	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	MHC	rs6457617-T	0.49	5E-75		2.36	[1.97-2.84]	Affymetrix [469557]	N
834	chr6	32663998	32663999	rs6457620	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.32	HLA locus	rs6457620-C	0.51	2E-16		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
834	chr6	32663998	32663999	rs6457620	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	6p21.32	HLA-DRB1	rs6457620-?	0.50	4E-186		2.55	[2.40-2.71]	Affymetrix, Illumina [at least 315971] (imputed)	N
834	chr6	32664457	32664458	rs2647012	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	intergenic	rs2647012-?	NR	3E-7	(Additive)	1.52	[1.3-1.75]	Affymetrix, Illumina [1621689] (imputed)	N
834	chr6	32664457	32664458	rs2647012	21533074	Smedby KE	2011-04-21	PLoS Genet	GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma.	Follicular lymphoma	379 European ancestry cases, 791 European ancestry controls	1,049 European ancestry cases, 3,952 European ancestry controls	6p21.32	HLA-DQB1	rs2647012-G	0.56	2E-21		1.56	[1.43-1.72]	Illumina [298168]	N
834	chr6	32664457	32664458	rs2647012	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQA1	rs2647012-A	0.44	8E-6	(case-only)	1.38	[1.20-1.59]	Illumina [421318] (imputed)	N
834	chr6	32664959	32664960	rs9357152	21896673	Chen D	2011-09-10	Hum Mol Genet	Genome-wide association study of HPV seropositivity.	HPV seropositivity	1,286 European ancestry lung cancer cases, 679 European ancestry head and neck cancer cases, 811 European ancestry kidney cancer cases, 2,035 European ancestry controls	1,307 Hispanic head and neck cancer cases, 1,037 Hispanic controls	6p21.32	HLA-DQB1	rs9357152-G	0.33	1E-14				Illumina [316015]	N
834	chr6	32664959	32664960	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
834	chr6	32664959	32664960	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
834	chr6	32665419	32665420	rs10484561	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.32	HLA-DQB1	rs10484561-G	0.11	1E-29	(FL)	1.95	[1.72-2.22]	Illumina [312768]	N
834	chr6	32666294	32666295	rs9275319	23242368	Jiang DK	2012-12-16	Nat Genet	Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.	Hepatocellular carcinoma (hepatitis B virus related)	1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls	4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls	6p21.32	HLA-DQ	rs9275319-A	0.88	3E-17		1.49	[1.36-1.63]	Illumina [1672517] (imputed)	N
834	chr6	32666659	32666660	rs9275326	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	6p21.32	HLA-DQB	rs9275326-C	0.906	1E-12		1.21	[1.16-1.26]	Illumina [7893274] (imputed)	N
834	chr6	32667909	32667910	rs2647044	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.32	HLA-DQB1	rs2647044-G	NR	6E-6	(FEV1/FVC)	0.044	[0.024-0.064] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
834	chr6	32667909	32667910	rs2647044	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	6p21.32	HLA-DRB1	rs2647044-A	0.13	1E-16		8.3	[6.97-9.89]	Illumina [543071]	N
834	chr6	32668099	32668100	rs2647045	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647045-?	NR	4E-10	(FL)	1.69	[NR]	Affymetrix [530583]	N
834	chr6	32668335	32668336	rs2647046	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647046-?	NR	2E-6	(NHL)	1.25	[1.14-1.37]	Affymetrix [530583]	N
834	chr6	32669155	32669156	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.75	1E-7	(ATA positive)	1.61	[1.35-1.92]	Illumina [NR] (imputed)	N
834	chr6	32669155	32669156	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.25	3E-54	(ACA positive)	2.38	[2.13-2.67]	Illumina [NR] (imputed)	N
834	chr6	32669372	32669373	rs11752643	21971053	Takeuchi F	2011-10-05	Eur J Hum Genet	Genome-wide association study of coronary artery disease in the Japanese.	Coronary heart disease	806 Japanese ancestry cases, 1,337 Japanese ancestry controls	3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls	6p21.32	HLA, DRB-DQB	rs11752643-T	0.06	5E-7		1.26	[1.15-1.38]	Illumina [451382]	N
834	chr6	32669766	32669767	rs2647050	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	HLA-DQB1	rs2647050-T	NR	1E-6	(Perc15, All)	1.6	[0.66-2.54] unit increase	Illumina [7600000] (imputed)	N
834	chr6	32669954	32669955	rs9275406	23918589	Negi S	2013-12-01	Arthritis Rheum	A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians.	Rheumatoid arthritis	706 North Indian ancestry cases, 761 North Indian ancestry controls	927 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1, C6orf10, HLA-DQA1	rs9275406-T	0.17	3E-12		2.1	[1.72-2.68]	Illumina [559348]	N
834	chr6	32670254	32670255	rs2856718	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB1	rs2856718-C	0.55	7E-28		1.28	[1.22-1.33]	Illumina [3680900] (imputed)	N
834	chr6	32670254	32670255	rs2856718	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs2856718-?	NR	2E-24		1.6	[1.46-1.75]	Illumina [719265]	N
834	chr6	32670254	32670255	rs2856718	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DQB1	rs2856718-A	0.48	4E-37		1.56	[1.45-1.67]	Illumina [423627]	N
834	chr6	32670307	32670308	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.77	5E-10	(East Asian)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
834	chr6	32670307	32670308	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	5E-8	(EA)	1.21	[NR]	Illumina [> 1000000] (imputed)	N
834	chr6	32670307	32670308	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	1E-15		1.27	[NR]	Illumina [> 1000000] (imputed)	N
834	chr6	32671102	32671103	rs13192471	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	6p21.32	HLA-DRB1	rs13192471-G	0.22	2E-58		1.97	[1.82-2.14]	Illumina [393217]	N
834	chr6	32671247	32671248	rs1794275	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DQA/B	rs1794275-A	0.15	3E-13		1.3	[1.21-1.39]	Illumina [444882]	N
834	chr6	32674736	32674737	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945894807901907	8E-6	(IGP1)	0.3014	[0.17-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
834	chr6	32674736	32674737	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945736455079007	1E-6	(IGP19)	0.3272	[0.2-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
834	chr6	32674736	32674737	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945425811930783	3E-7	(IGP41)	0.3448	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
834	chr6	32675108	32675109	rs9275524	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	intergenic	rs9275524-T		2E-7	(Modelling analysis)	1.07	[1.04-1.09]	NR [1252901] (imputed)	N
834	chr6	32675469	32675470	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	7E-14	(ACPA+ cases vs. all controls)	3.015	[NR]	Affymetrix [3441843] (imputed)	N
834	chr6	32675469	32675470	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	3E-12	(all cases vs. all controls)	2.608	[NR]	Affymetrix [3441843] (imputed)	N
834	chr6	32675469	32675470	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	2E-13	(ACPA- cases vs. all controls)	2.869	[NR]	Affymetrix [3441843] (imputed)	N
834	chr6	32677911	32677912	rs9275563	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275563-?	NR	6E-11	(OCB positive vs. controls)	1.75	[1.47-2.04]	Illumina [495970]	N
834	chr6	32678596	32678597	rs4273729	23420232	Duggal P	2013-02-19	Ann Intern Med	Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.	Chronic hepatitis C infection	1,482 chronic HCV cases, 919 spontaneously cleared HCV cases	461 chronic HCV cases, 284 spontaneously cleared HCV cases	6p21.32	HLA	rs4273729	NR	5E-17		1.59		Illumina [792721] (imputed)	N
834	chr6	32678998	32678999	rs9275572	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-A	0.4	5E-16		1.74	[1.64-1.85]	Illumina [NR]	N
834	chr6	32678998	32678999	rs9275572	24376798	Miki D	2013-12-20	PLoS One	HLA-DQB1*03 confers susceptibility to chronic hepatitis C in Japanese: a genome-wide association study.	Chronic hepatitis C infection	481 Japanese ancestry cases, 2,963 Japanese ancestry controls	5,737 Japanese ancestry cases, 26,931 Japanese ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs9275572-T	0.359	4E-16		1.27	[1.19-1.33]	Illumina [458207]	N
834	chr6	32678998	32678999	rs9275572	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.32	HLA-DQ, HLA-DR	rs9275572-A	0.36	6E-9		1.3	[1.19-1.42]	Illumina [432703]	N
834	chr6	32678998	32678999	rs9275572	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-G	0.59	1E-35		2.21	[1.98-2.47]	Illumina [463301]	N
834	chr6	32680575	32680576	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Pack-years)	1.0E-4	[-0.00014-0.00025] unit decrease	NR [~ 2500000] (imputed)	N
834	chr6	32680575	32680576	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Ever-smoking)	0.001	[-0.04016-0.04216] unit decrease	NR [~ 2500000] (imputed)	N
834	chr6	32680927	32680928	rs7765379	25383971	Dunstan SJ	2014-11-10	Nat Genet	Variation at HLA-DRB1 is associated with resistance to enteric fever.	Enteric fever	432 Vietnamese ancestry cases, 2,011 Vietnamese ancestry controls	151 Vietnamese ancestry cases,  668 Vietnamese ancestry controls, 595 Nepalese ancestry cases, 386 Nepalese ancestry controls	6p21.32	HLA-DRB1, HLA-DQB1	rs7765379-A	0.945	2E-13		4.55	[2.94-6.67]	Illumina [709725]	N
834	chr6	32680927	32680928	rs7765379	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	HLA-DQA2, HLA-DOB, HLA-DQB1, PSMB9, HLA-DRB1, HLA-DQA1	rs7765379-G	NR	9E-59		1.93	[1.78-2.09]	Illumina [4929034] (imputed)	N
834	chr6	32680927	32680928	rs7765379	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	6p21.32	HLA-DRB1	rs7765379-?		5E-23		2.51	[NR]	Illumina [441398]	N
834	chr6	32681276	32681277	rs2858331	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQA2	rs2858331-G	NR	6E-6				Affymetrix, Illumina [NR] (imputed)	N
834	chr6	32681276	32681277	rs2858331	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p21.32	HLA-DQA2	rs2858331-G	NR	1E-8		0.04	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
834	chr6	32681354	32681355	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.763	6E-6		0.016	[0.0089-0.0227] kg/m2 increase	Affymetrix, Illumina [2550021]	N
834	chr6	32681354	32681355	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.76	9E-6	(EA)	0.016	[0.009-0.0232] kg/m2 increase	Affymetrix, Illumina [2550021]	N
834	chr6	32681630	32681631	rs9275596	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Peanut allergy	316 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 589 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	62 European ancestry child cases, 69 European ancestry child controls, 24 child cases, 58 child controls	6p21.32	HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DQA2	rs9275596-C	0.35	6E-11	(EA)	1.7	[1.40-2.10]	Illumina [6459842] (imputed)	N
834	chr6	32681630	32681631	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.8	1E-19	(East Asian)	1.69	[NR]	Illumina [> 1000000] (imputed)	N
834	chr6	32681630	32681631	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	3E-31		1.44	[NR]	Illumina [> 1000000] (imputed)	N
834	chr6	32681630	32681631	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	2E-15	(EA)	1.35		Illumina [> 1000000] (imputed)	N
834	chr6	32681630	32681631	rs9275596	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1, HLA-DQA1	rs9275596-?	0.73 (EA)	2E-26		1.59	[NR]	Illumina [498322]	N
834	chr6	32681668	32681669	rs6935723	25217962	Heap GA	2014-09-14	Nat Genet	HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.	Response to thiopurine immunosuppressants in inflammatory bowel disease (pancreatitis) (azathioprine and mercaptopurine)	172 European ancestry cases, 2,035 European ancestry controls	78 European ancestry cases, 472 controls	6p21.32	HLA region	rs6935723-C	0.27	1E-21		2.46	[2.04-2.98]	Affymetrix, Illumina [2819700] (imputed)	N
834	chr6	32681675	32681676	rs3104402	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs3104402-A	NR	6E-6		0.165	[0.094-0.236] unit decrease	Affymetrix [736996]	N
834	chr6	32682136	32682137	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
834	chr6	32682136	32682137	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
834	chr6	32685549	32685550	rs3916765	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p21.32	HLA-DQA2	rs3916765-A	0.12	1E-6	(Lean)	1.21	[1.12-1.31]	NR [NR]	N
834	chr6	32687972	32687973	rs9275698	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQA2	rs9275698-T	0.79	5E-12		1.18	[1.12-1.24]	Illumina [458847]	N
834	chr6	32697784	32697785	rs2859113	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs2859113-C	0.378328302013423	6E-8	(IGP59)	0.1817	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
834	chr6	32700082	32700083	rs2858884	20711174	Hor H	2010-08-15	Nat Genet	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	Narcolepsy	562 European ancestry cases, 702 European ancestry controls	370 cases, 495 controls	6p21.32	HLA-DQA2	rs2858884-A	0.81	3E-8		1.79	[1.45-2.17]	Affymetrix [392949]	N
834	chr6	32707294	32707295	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQA2	rs9276370-T	0.076	2E-12		1.95	[1.62-2.34]	Illumina [456262]	N
834	chr6	32707294	32707295	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
834	chr6	32723916	32723917	rs7756516	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
834	chr6	32725192	32725193	rs2301271	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2	rs2301271-T	0.40	2E-12	(anti-dsDNA -)	1.47	[1.32-1.63]	Illumina [421318] (imputed)	N
834	chr6	32726802	32726803	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.346381764494382	2E-8	(IGP42)	0.1909	[0.12-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
834	chr6	32726802	32726803	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.34601888034188	4E-8	(IGP2)	0.1853	[0.12-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
834	chr6	32730011	32730012	rs7453920	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-A	0.88	1E-60		2.0	[1.82-2.17]	Illumina [3680900] (imputed)	N
834	chr6	32730011	32730012	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.051	7E-15		2.31	[1.87-2.85]	Illumina [456262]	N
834	chr6	32730011	32730012	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
834	chr6	32730011	32730012	rs7453920	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.87	5E-37		1.8868	[1.69-2.08]	Illumina [490610]	N
834	chr6	32730011	32730012	rs7453920	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs7453920-?	NR	7E-26		2.0	[1.72-2.27]	Illumina [719265]	N
834	chr6	32730011	32730012	rs7453920	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2	rs7453920-?	NR	5E-6	(LYM)	1.19	[1.11-1.3]	Affymetrix [530583]	N
834	chr6	32730011	32730012	rs7453920	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HAL-DQB2	rs7453920-G	0.83	6E-28		1.81	[1.62-2.01]	Illumina [423627]	N
834	chr6	32730085	32730086	rs2051549	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	6p21.32	HLA-DQA2	rs2051549-?	NR	3E-22				Illumina [737984]	N
834	chr6	32736694	32736695	rs9276606	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs9276606-T	0.15	3E-22	(Serum level of C4)	0.09	[0.070-0.110] g/L decrease	Illumina [1940245] (imputed)	N
834	chr6	32741867	32741868	rs2621416	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2, TAP2	rs2621416-G	NR	2E-9	(FL)	1.57	[NR]	Affymetrix [530583]	N
834	chr6	32763513	32763514	rs2857151	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	6p21.32	HLA-DOB, HLA-DQB2	rs2857151-G	0.76	5E-11		1.47	[1.23-1.77]	Illumina [463793]	N
835	chr6	32783085	32783086	rs7383287	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs7383287-A	NR	1E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
835	chr6	32787035	32787036	rs1894407	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6p21.32	NR	rs1894407-C		1E-7		1.17	[1.11-1.24]	Affymetrix, Illumina [up to 3437411] (imputed)	N
835	chr6	32797772	32797773	rs2228391	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA	rs2228391-C	0.108	4E-7	(trend)	3.32	[2.02-5.46] (allelic)	Affymetrix [522980]	N
835	chr6	32797875	32797876	rs241436	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p21.32	TAP2	rs241436-G	0.49	8E-6	(men)	0.089	[0.05-0.128] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
835	chr6	32798730	32798731	rs1015166	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	TAP2	rs1015166-T	NR	4E-22		2.1428		Illumina [514008]	N
835	chr6	32804069	32804070	rs241428	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs241428-G	0.08	9E-83	(Serum level of C4)	0.23	[0.21-0.25] g/L increase	Illumina [1940245] (imputed)	N
835	chr6	32809847	32809848	rs9357155	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	TAP2, TAP1, PSMB8, PSMB9	rs9357155-?	0.87 (EA)	2E-12		1.41	[NR]	Illumina [498322]	N
835	chr6	32811628	32811629	rs2071543	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	PSMB9, TAP1, TAP2, PSMB8	rs2071543-G	0.80	2E-9	(East Asian)	1.41	[NR]	Illumina [> 1000000] (imputed)	N
835	chr6	32852646	32852647	rs2187689	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	PSMB9	rs2187689-C	0.08	3E-8		0.23	[0.15-0.31] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32854696	32854697	rs10046257	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10046257-A	0.10	3E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32855716	32855717	rs6457690	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6457690-A	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32856380	32856381	rs1029296	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029296-C	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32856481	32856482	rs1029295	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029295-C	0.10	5E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32856933	32856934	rs6936004	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6936004-C	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32857418	32857419	rs10214886	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10214886-A	0.10	2E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32859711	32859712	rs7744666	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs7744666-C	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32859747	32859748	rs11969002	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs11969002-A	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32860751	32860752	rs9469300	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs9469300-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
835	chr6	32862606	32862607	rs3749982	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs3749982-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
836	chr6	32913245	32913246	rs1480380	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	NR	rs1480380-C	0.908	6E-7	(Modelling analysis)			NR [1252901] (imputed)	N
836	chr6	32913245	32913246	rs1480380	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs1480380-T	0.0877	4E-39		3.05	[NR]	Illumina [242824]	N
836	chr6	32914725	32914726	rs73396800	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs73396800-G	NR	4E-16		1.1904762	[NR]	Illumina [7158791] (imputed)	N
836	chr6	32915850	32915851	rs16871226	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs16871226-G	0.0244821228239845	2E-6	(IGP67)	0.5182	[0.3-0.73] unit increase	Illumina [~ 2500000] (imputed)	N
836	chr6	32953279	32953280	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.87438328769575	7E-6	(IGP59)	0.2057	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
836	chr6	32953279	32953280	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874270331235955	2E-6	(IGP42)	0.2151	[0.13-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
836	chr6	32953279	32953280	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874157767431399	5E-6	(IGP2)	0.2092	[0.12-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
836	chr6	32953279	32953280	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873857556055831	6E-6	(IGP16)	0.2057	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
836	chr6	32953279	32953280	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873550828800713	6E-6	(IGP61)	0.206	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
836	chr6	32953279	32953280	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873514573726542	3E-6	(IGP58)	0.2131	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
836	chr6	32953279	32953280	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.872971129118433	6E-7	(IGP65)	0.2253	[0.14-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
836	chr6	32961360	32961361	rs9500927	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DOA	rs9500927-T	0.26	4E-9		1.13	[1.09-1.18]	Illumina [458847]	N
836	chr6	32972403	32972404	rs3128935	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	6p21.32	HLA-DOA	rs3128935-T	0.97	9E-6	(Age 20-60 years)	2.28	[1.59-3.28]	Affymetrix, Illumina [up to 17585496] (imputed)	N
836	chr6	32973598	32973599	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	White wine liking	381 Carlantino individuals, 744 Friuli Venezia Giulia individuals, 1,115 Val Borbera individuals	1,261 Erasmus Rucphen Family individuals, 335 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	2E-8		0.0539	[NR] unit increase	Illumina [9969492] (imputed)	N
836	chr6	32973598	32973599	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	Red wine liking	398 Carlantino individuals, 751 Friuli Venezia Giulia individuals, 1,122 Val Borbera individuals	1,246 Erasmus Rucphen Family individuals, 353 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	8E-6		0.0419	[NR] unit increase	Illumina [6967159] (imputed)	N
836	chr6	32974933	32974934	rs378352	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DOA	rs378352-T	0.39	1E-23		1.26	[1.20-1.31]	Illumina [3680900] (imputed)	N
836	chr6	32975013	32975014	rs399604	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.32	HLA-DOA	rs399604-C	NR	1E-10		2.346	[1.63-3.06] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
837	chr6	33033021	33033022	rs3077	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPA1	rs3077-A	0.66	1E-53		1.45	[1.39-1.52]	Illumina [3680900] (imputed)	N
837	chr6	33033021	33033022	rs3077	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs3077-?	NR	5E-39		1.89	[1.69-2.08]	Illumina [719265]	N
837	chr6	33033021	33033022	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	4E-45	(Protective effects against CHB)	1.82	[1.67-1.96]	Affymetrix [597789]	N
837	chr6	33033021	33033022	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	1E-9	(Clearance of HBV)	1.67	[1.43-2.0]	Affymetrix [597789]	N
837	chr6	33033021	33033022	rs3077	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPA1	rs3077-G	0.60	2E-61		1.87	[1.73-2.01]	Illumina [423627]	N
837	chr6	33042879	33042880	rs987870	21814517	Noguchi E	2011-07-21	PLoS Genet	Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.	Asthma	938 Japanese ancestry cases, 2,376 Japanese ancestry controls	1653 East Asian ancestry cases, 1453 East Asian ancestry controls	6p21.32	HLA, DPB1	rs987870-C	0.14	2E-10		1.4	[1.26-1.55]	Illumina [450326]	N
837	chr6	33042879	33042880	rs987870	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1	rs987870-?	0.15	2E-20	(ATA positive)	2.09	[1.78-2.45]	Illumina [NR] (imputed)	N
837	chr6	33048660	33048661	rs1042151	23180272	Park BL	2012-11-21	Hum Genet	Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.	Aspirin exacerbated respiratory disease in asthmatics	117 Korean ancestry cases, 685 Korean ancestry controls	142 Korean ancestry cases, 996 Korean ancestry controls	6p21.32	HLA-DPB1	rs1042151-G	0.083	5E-7		2.4	[1.68-3.42]	Illumina [430486]	N
837	chr6	33054860	33054861	rs9277535	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-A	0.58	1E-70		1.52	[1.45-1.59]	Illumina [3680900] (imputed)	N
837	chr6	33054860	33054861	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.251	5E-14		1.59	[1.41-1.79]	Illumina [456262]	N
837	chr6	33054860	33054861	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
837	chr6	33054860	33054861	rs9277535	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs9277535-?	NR	4E-40		1.89	[1.72-2.08]	Illumina [719265]	N
837	chr6	33054860	33054861	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-21	(Protective effects against CHB)	1.64	[1.47-1.82]	Affymetrix [597789]	N
837	chr6	33054860	33054861	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-17	(Clearance of HBV)	1.52	[1.37-1.67]	Affymetrix [597789]	N
837	chr6	33054860	33054861	rs9277535	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DPB1	rs9277535-?	NR	3E-12		1.39	[1.23-1.59]	Illumina [455508]	N
837	chr6	33054860	33054861	rs9277535	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.57	3E-54		1.77	[1.65-1.91]	Illumina [423627]	N
837	chr6	33054860	33054861	rs9277535	19349983	Kamatani Y	2009-04-06	Nat Genet	A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.	Hepatitis B	179 Japanese ancestry cases, 934 Japanese ancestry controls	1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls	6p21.32	HLA-DPB1	rs9277535-G		6E-39		1.75	[1.61-1.92]	Illumina [499544]	N
837	chr6	33055537	33055538	rs9277554	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	6p21.32	HLA-DOA, HSD17B8, RING1, COL11A2, RXRB, HLA-DPB1*04, HLA-DPB1, HLA-DPB2	rs9277554-C	0.708	2E-50		4.17	[3.33-5.00]	Illumina [287802]	N
837	chr6	33055604	33055605	rs9277555	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	6p21.32	NR	rs9277555-G		6E-7		0.0199	[0.010-0.030] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
837	chr6	33060117	33060118	rs2281388	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DPB1	rs2281388-T	0.32	2E-65		1.64	[1.55-1.74]	Illumina [486049]	N
837	chr6	33060821	33060822	rs6928954	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	6p21.32	intergenic	rs6928954-?	0.023	1E-6		0.075	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
837	chr6	33069892	33069893	rs3117242	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	6p21.32	HLA-DP, COL11A2	rs3117242-?	NR	1E-71		3.67	[NR]	Affymetrix [NR]	N
837	chr6	33072171	33072172	rs4282438	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	COL11A2, HLA-DPB1, HLA-DPA1	rs4282438-G	0.3546	9E-25		1.58	[1.45-1.72]	Affymetrix [556134]	N
837	chr6	33072171	33072172	rs4282438	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	HLA-DPB2	rs4282438-?	0.56	5E-27	(Stringently Matched)	1.35	[1.27-1.41]	Affymetrix [563339]	N
837	chr6	33082307	33082308	rs733208	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Thyroid peroxidase antibody positivity	377 Korean ancestry cases, 3,019 Korean ancestry anti-TPO controls	108 Korean ancestry cases, 734 Korean ancestry controls	6p21.32	HLA-DPB2	rs733208-A	0.30	4E-7		1.435	[1.30-1.57]	Affymetrix [1418709] (imputed)	N
837	chr6	33086248	33086249	rs3117035	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	6p21.32	intergenic	rs3117035-A	0.48	1E-6		0.14	[0.08-0.20] unit decrease	Illumina [~ 318327]	N
837	chr6	33086447	33086448	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs1883414-G	0.68	2E-11		1.22	[NR]	Illumina [> 1000000] (imputed)	N
837	chr6	33086447	33086448	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB1, HLA-DPA1, HLA-DPB2	rs1883414-G	0.68	5E-7	(EA)	1.2	[NR]	Illumina [> 1000000] (imputed)	N
837	chr6	33086447	33086448	rs1883414	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1, HLA-DPB2	rs1883414-?	0.67 (EA)	5E-9		1.28	[NR]	Illumina [498322]	N
837	chr6	33089622	33089623	rs3117027	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DPB2	rs3117027-?	NR	1E-7		1.25	[1.15-1.36]	Illumina [632668]	N
837	chr6	33097613	33097614	rs3129269	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs3129269-C	NR	5E-7	(East Asian)	1.29	[NR]	Illumina [> 1000000] (imputed)	N
837	chr6	33104174	33104175	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPA3	rs9366816-C	0.414	3E-10		1.43	[1.28-1.60]	Illumina [456262]	N
837	chr6	33104174	33104175	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
837	chr6	33143947	33143948	rs2254287	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	6p21.32	B3GALT4	rs2254287-G	0.38	5E-8		1.91	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
838	chr6	33204273	33204274	rs9277952	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	intergenic	rs9277952-?	0.53	2E-9	(Matched)	1.18	[1.12-1.23]	Affymetrix [563339]	N
839	chr6	33395198	33395199	rs9461856	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs9461856-A	NR	4E-12		1.08	[NR]	Illumina [7158791] (imputed)	N
840	chr6	33465481	33465482	rs9394152	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	6p21.32	ZBTB9	rs9394152-T	0.41	7E-8		0.045	unit increase	Illumina [~ 6300000] (imputed)	N
840	chr6	33476717	33476718	rs7747216	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	6p21.31	intergenic	rs7747216-T	0.64	2E-7		0.044	unit increase	Illumina [~ 6300000] (imputed)	N
840	chr6	33478495	33478496	rs9296092	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	6p21.31	intergenic	rs9296092-G	0.64	3E-7		0.044	unit increase	Illumina [~ 6300000] (imputed)	N
840	chr6	33486731	33486732	rs6457730	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.31	intergenic	rs6457730-A	0.0115	1E-6		0.275	[0.16-0.39] unit increase	Illumina [2400000] (imputed)	N
840	chr6	33489881	33489882	rs9469457	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.31	BAK1	rs9469457-A	0.021	9E-6	(Dinner intake, adj EER )	0.03	[NR] kcal increase	Illumina [899892]	N
840	chr6	33515519	33515520	rs210152	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.31	NR	rs210152-A	NR	9E-10		1.09	[NR]	Illumina [7158791] (imputed)	N
840	chr6	33534725	33534726	rs6910233	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	6p21.31	NR	rs6910233-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
840	chr6	33540208	33540209	rs210134	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	6p21.31	BAK1	rs210134-G	0.68	3E-6		1.31	[NR]	Illumina [450000] (imputed)	N
840	chr6	33540208	33540209	rs210134	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Platelet count	13,582 European ancestry individuals	NA	6p21.31	BAK1	rs210134-A	NR	6E-8		4.66	[NR] unit increase	Illumina [476395]	N
840	chr6	33540208	33540209	rs210134	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Platelet count	7,943 African American children, 6,234 European ancestry children	NA	6p21.31	BAK1	rs210134-A	0.2675	2E-8	(AA)	8.923	[5.82-12.02] unit decrease	Illumina [544917]	N
840	chr6	33540208	33540209	rs210134	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	6p21.31	BAK1	rs210134-G	0.286	2E-15	(Platelet Count)	6.16	[4.63-7.69] 10^9 L decrease	Affymetrix, Illumina [~ 2200000] (imputed)	N
840	chr6	33540208	33540209	rs210134	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.31	BAK1	rs210134-G	NR	7E-36		4.957	[4.18-5.73] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
840	chr6	33540691	33540692	rs210135	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p21.31	BAK1	rs210135-A	NR	4E-10	(PLT)	5.44	[3.74-7.14] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
840	chr6	33541718	33541719	rs513349	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Platelet count	7,943 African American children, 6,234 European ancestry children	NA	6p21.31	BAK1	rs513349-A	NR	2E-12		7.7549	[5.59-9.92] unit decrease	Illumina [544917]	N
840	chr6	33542522	33542523	rs9296095	25705162	Oh JH	2014-12-31	Genomics Inform	Genome-wide association study identifies candidate Loci associated with platelet count in koreans.	Platelet count	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	6p21.31	BAK1	rs9296095-G	0.23	1E-15		4.8	[2.51-7.09] unit increase	Affymetrix [2152228] (imputed)	N
840	chr6	33542537	33542538	rs210138	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	6p21.31	BAK1	rs210138-G	0.19	2E-24		1.44	[1.30-1.61]	Illumina [307291]	N
840	chr6	33542537	33542538	rs210138	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	6p21.31	BAK1	rs210138-G	NR	3E-7		1.62	[1.35-1.95]	Illumina [NR]	N
840	chr6	33542537	33542538	rs210138	19483681	Rapley EA	2009-05-31	Nat Genet	A genome-wide association study of testicular germ cell tumor.	Testicular germ cell tumor	730 cases, 1,435 controls	571 cases, 1,806 controls	6p21.31	BAK1	rs210138-G	0.20	1E-13		1.5	[1.28-1.75]	Illumina [307666]	N
840	chr6	33546836	33546837	rs210142	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	6p21.31	BAK1	rs210142-C	0.72	5E-8		1.22	[NR]	Illumina [549934]	N
840	chr6	33546836	33546837	rs210142	22700719	Slager SL	2012-06-13	Blood	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,121 European ancestry cases, 3,745 European ancestry controls	861 European ancestry cases, 2,033 European ancestry controls	6p21.31	BAK1	rs210142-C	0.70	9E-16		1.4	[1.25-1.57]	Affymetrix, Illumina [~ 1500000] (imputed)	N
840	chr6	33548393	33548394	rs5745568	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Platelet count	14,806 Japanese ancestry individuals	NA	6p21.31	BAK1	rs5745568-T	0.23	7E-11		0.09	[0.063-0.117] unit increase	Illumina [561583]	N
841	chr6	33618161	33618162	rs9394159	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.31	MHC	rs9394159-T	0.53	4E-12		1.36	[1.24-1.48]	Perlegen [268068]	N
841	chr6	33624732	33624733	rs999943	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	6p21.31	ITPR3	rs999943-T	0.72	1E-6		1.37	[1.20-1.56]	Illumina [457251]	N
841	chr6	33627076	33627077	rs2296342	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.31	NR	rs2296342-A	NR	2E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
841	chr6	33659045	33659046	rs4711336	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.31	HMGA1	rs4711336-?	NR	3E-8	(Conditiond on rs2780226)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
841	chr6	33662294	33662295	rs3227	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 101,069 European ancestry individuals	25,490 European ancestry individuals	6p21.31	ITPR3	rs3227-C	0.498	3E-7	(College)	1.037	[NR]	Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)	N
842	chr6	33689519	33689520	rs2966	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	6p21.31	intergenic	rs2966-T	0.452	4E-7		0.022	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
842	chr6	33706478	33706479	rs9469578	20558539	Kestenbaum B	2010-06-17	J Am Soc Nephrol	Common genetic variants associate with serum phosphorus concentration.	Phosphorus levels	16,264 European ancestry individuals	5,444 individuals	6p21.31	LEMD2, MLN, ITPR3	rs9469578-T	0.08	1E-11		0.06	[NR] mg/dl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
842	chr6	33731786	33731787	rs943466	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.31	LEMD2	rs943466-G	0.755	8E-6	(EA)	0.016	[0.0088-0.0226] kg/m2 increase	Affymetrix, Illumina [2550021]	N
842	chr6	33731786	33731787	rs943466	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.31	LEMD2	rs943466-G	0.752	9E-6		0.015	[0.0083-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
842	chr6	33740024	33740025	rs2296743	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.31	LEMD2, MLN	rs2296743-A	0.302	8E-6	(Dinner intake, adj EER )	0.03	[NR] kcal increase	Illumina [899892]	N
842	chr6	33741715	33741716	rs4711350	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.31	NR	rs4711350-G	NR	9E-9		1.0869565	[NR]	Illumina [7158791] (imputed)	N
842	chr6	33762241	33762242	rs2274459	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	6p21.31	MLN	rs2274459-A	0.17	6E-6		1.38	[1.20-1.58]	Illumina [457251]	N
842	chr6	33764032	33764033	rs751728	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.31	LEMD2, MLN, ITPR3, MIF1, IP6K3	rs751728-T	0.733	1E-8		1.32	[1.20-1.45]	Illumina [5664371] (imputed)	N
843	chr6	33817928	33817929	rs4713693	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.31	MHC	rs4713693-T	0.65	7E-13		1.4	[1.28-1.53]	Perlegen [268068]	N
843	chr6	33825357	33825358	rs2104362	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	6p21.31	LEMD2, MLN, MIR1275	rs2104362-?	NR	7E-6		0.8441	unit increase	Illumina [2543888] (imputed)	N
843	chr6	33851172	33851173	rs16869652	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	6p21.31	intergenic	rs16869652-?	NR	5E-6	(EA)	1.448	[NR]	Illumina [up to 531195]	N
844	chr6	34036445	34036446	rs1906953	23727862	Savage SA	2013-06-02	Nat Genet	Genome-wide association study identifies two susceptibility loci for osteosarcoma.	Osteosarcoma	694 European ancestry cases, 2,703 European ancestry controls	247 European ancestry cases, 550 European ancestry controls	6p21.31	GRM4	rs1906953-A	NR	8E-9		1.57	[1.35-1.83]	Illumina [698968]	N
844	chr6	34053692	34053693	rs77490194	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	6p21.31	GRM4	rs77490194-?	NR	3E-6	(Atopic dermatitis)			Affymetrix, Illumina [~ 5200000]	N
845	chr6	34165720	34165721	rs7742369	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	6p21.31	HMGA1	rs7742369-G	0.14	1E-13		0.11	[0.08-0.14] cm increase	Illumina [420885]	N
845	chr6	34188865	34188866	rs12214804	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.31	HMGA1	rs12214804-T	0.92	2E-49		0.084	[0.072-0.096] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
845	chr6	34194865	34194866	rs1759645	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.31	HMGA1	rs1759645-C	0.16	5E-15		1.29	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
845	chr6	34195010	34195011	rs1776897	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.31	HMGA1	rs1776897-G	0.1298	2E-7	(women)	0.0431	[0.027-0.059] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
845	chr6	34195010	34195011	rs1776897	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.31	HMGA1	rs1776897-G	0.0812	7E-9	(EA, women)	0.052	[0.034-0.07] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
845	chr6	34195010	34195011	rs1776897	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.31	HMGA1	rs1776897-T	0.88	2E-29		0.088	[0.07-0.106] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
845	chr6	34195010	34195011	rs1776897	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Height	11,536 European ancestry individuals	NA	6p21.31	HMGA1	rs1776897-T	0.49	7E-6		0.11	[0.04-0.18] SD decrease	Illumina [559712] (imputed)	N
845	chr6	34195010	34195011	rs1776897	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	6p21.31	HMGA1, C6orf106	rs1776897-?	0.49	8E-11		0.12	[0.08-0.16] s.d. increase	Illumina [229216]	N
845	chr6	34195010	34195011	rs1776897	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.31	LBH, HMGA1	rs1776897-C	0.07	1E-8		8.8	[5.66-11.94] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
845	chr6	34199091	34199092	rs2780226	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.31	HMGA1	rs2780226-T	0.92	8E-28		0.076	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
846	chr6	34214321	34214322	rs1150781	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	6p21.31	HMGA1	rs1150781-C	0.42	2E-8		0.048	[0.030-0.066] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
846	chr6	34238513	34238514	rs6918981	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.31	NUDT3	rs6918981-A	0.84	2E-30		0.069	[0.053-0.085] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
846	chr6	34238513	34238514	rs6918981	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	6p21.31	HMGA1, C6orf1, NUDT3	rs6918981-G	0.21	2E-8		0.55	[NR] cm increase	Affymetrix [334546]	N
846	chr6	34238513	34238514	rs6918981	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Height	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	6p21.31	HMGA1	rs6918981-G	0.21	3E-8		0.4	[0.26-0.54] cm increase	Affymetrix [2156535] (imputed)	N
846	chr6	34302868	34302869	rs206936	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	6p21.31	HMGA1, NUDT3	rs206936-G	0.21	3E-8		0.06	[0.02-0.10] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
848	chr6	34546559	34546560	rs2814982	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.31	C6orf106	rs2814982-T	0.12	4E-15		0.044	[NR] unit decrease	NR [NR] (imputed)	N
848	chr6	34546559	34546560	rs2814982	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p21.31	C6orf106	rs2814982-T	0.11	5E-11		1.86	[1.21-2.51] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
848	chr6	34552796	34552797	rs2814944	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	6p21.31	C6orf106	rs2814944-A	0.16	4E-9		0.49	[0.29-0.69] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
848	chr6	34563163	34563164	rs205262	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.31	C6orf106	rs205262-G	0.285	3E-10		0.021	[0.015-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
848	chr6	34563163	34563164	rs205262	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.31	C6orf106	rs205262-G	0.273	2E-10	(EA)	0.022	[0.015-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
848	chr6	34563163	34563164	rs205262	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.31	C6orf106	rs205262-G	0.272	2E-9	(EA, women)	0.027	[0.018-0.036] kg/m2 increase	Affymetrix, Illumina [2550021]	N
848	chr6	34581635	34581636	rs2744971	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.31	C6orf106	rs2744971-G	0.15	8E-13		1.26	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
848	chr6	34582273	34582274	rs182503338	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6p21.31	C6orf1	rs182503338-?	NR	8E-7				Affymetrix [5486770] (imputed)	N
848	chr6	34582273	34582274	rs182503338	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	6p21.31	C6orf106	rs182503338-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
849	chr6	34618892	34618893	rs2814993	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	6p21.31	C6orf106	rs2814993-A	0.15	4E-12		0.09	[0.05-0.13] s.d. increase (males)	Affymetrix [402951]	N
849	chr6	34683634	34683635	rs6938239	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.31	HMGA1	rs6938239-?	NR	6E-12	(Conditioned on rs2780226)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
849	chr6	34697113	34697114	rs2764209	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	6p21.31	SNRPC	rs2764209-T	0.77	6E-10		0.044	[0.03-0.058] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
849	chr6	34714321	34714322	rs2764208	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.31	SNRPC	rs2764208-G	0.35	7E-6		1.28	[1.203-1.36]	Illumina [NR]	N
850	chr6	34763981	34763982	rs9469890	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.31	C6orf106	rs9469890-C	0.88	9E-8	(Pubertal growth)	0.12	[0.077-0.163] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
850	chr6	34823186	34823187	rs3734266	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6p21.31	UHRF1BP1	rs3734266-G	0.13	1E-12		1.56		Illumina [2100739] (imputed)	N
850	chr6	34845448	34845449	rs4646949	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	6p21.31	UHRF1BP1	rs4646949-?		4E-8				Affymetrix, Illumina [~ 2400000] (imputed)	N
851	chr6	34898454	34898455	rs12205331	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	6p21.31	ANKS1A	rs12205331-T	NR	6E-6		1.0753	[1.04-1.11]	Illumina [575000] (imputed)	N
851	chr6	34923863	34923864	rs847845	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	6p21.31	ANKS1A	rs847845-?	NR	6E-6	(Dominant model)			Affymetrix [271817]	N
851	chr6	34927279	34927280	rs1535001	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	6p21.31	UHRF1BP1	rs1535001-?	NR	3E-7		1.184	[NR]	Illumina [NR]	N
851	chr6	34975414	34975415	rs2140418	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol use disorder factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	6p21.31	ANKS1	rs2140418-C	0.22	4E-6		0.101	[NR] unit increase	Illumina [~ 300000]	N
851	chr6	34975414	34975415	rs2140418	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol dependence factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	6p21.31	ANKS1	rs2140418-C	0.22	4E-6		0.1	[NR] unit increase	Illumina [~ 300000]	N
852	chr6	35005083	35005084	rs13210323	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.31	ANKS1A	rs13210323-A	0.73	8E-12		1.17	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
852	chr6	35034799	35034800	rs17609940	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	6p21.31	ANKS1A	rs17609940-G	0.75	1E-8		1.07	[1.05-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
852	chr6	35056442	35056443	rs2005	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.31	ANKS1A	rs2005-A	0.089	7E-6	(BMR RQ)	0.03	[NR] unit increase	Illumina [899892]	N
852	chr6	35118235	35118236	rs9368849	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	6p21.31	intergenic	rs9368849-T	0.317	5E-6	(Continous PC20)	0.044	[NR] unit increase	Illumina [546355]	N
853	chr6	35246902	35246903	rs6919534	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.31	ZNF76	rs6919534-A	0.869	8E-31		0.05	[0.042-0.058] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
854	chr6	35322762	35322763	rs7744392	23137000	Lin HJ	2012-11-09	Ophthalmic Genet	Novel susceptibility genes associated with diabetic cataract in a Taiwanese population.	Cataracts in type 2 diabetes	109 Han Chinese ancestry cases, 649 Han Chinese ancestry controls	NA	6p21.31	PPARD	rs7744392-G	NR	3E-6				Illumina [517401]	N
854	chr6	35341849	35341850	rs9470004	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	6p21.31	PPARD	rs9470004-T	0.17	1E-11		0.081	[0.057-0.105] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
854	chr6	35363756	35363757	rs9658108	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	6p21.31	PPARD	rs9658108-?	0.052	5E-7	(clozapine-glucose)			Affymetrix [492900]	N
855	chr6	35402784	35402785	rs4713858	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.31	ANKS1A, TCP11, ZNF76, DEF6, SCUBE3	rs4713858-G	0.86	4E-8		6.8	[4.45-9.15] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
855	chr6	35402804	35402805	rs6457821	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.31	PPARD/FANCE	rs6457821-A	0.02	2E-12		0.104	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
855	chr6	35404353	35404354	rs2206030	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.31	PPARD, FANCE	rs2206030-T	NR	5E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
855	chr6	35502201	35502202	rs9380516	22841784	Patin E	2012-07-26	Gastroenterology	Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.	Hepatitis C induced liver fibrosis	1,161 European ancestry HCV-infected individuals	1,181 European ancestry HCV-infected individuals	6p21.31	TULP1	rs9380516-T	0.17	5E-7	(Duration F0-1/F3-4, male)			Illumina [780650] (imputed)	N
864	chr6	36618820	36618821	rs1321313	23463857	Ritchie MD	2013-03-05	Circulation	Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.	Electrocardiographic conduction measures	5,272 European ancestry indiviudals	40,407 European ancestry individuals	6p21.2	CDKN1A	rs1321313-C	0.742	5E-25	(QRS duration - CHARGE)	0.8129	[NR] msec decrease	Illumina [528508]	N
864	chr6	36622899	36622900	rs1321311	22634755	Dunlop MG	2012-05-27	Nat Genet	Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.	Colorectal cancer	8,323 European ancestry cases, 9,457 European ancestry controls	19,513 European ancestry cases, 17,657 European ancestry controls, 1,583 Japanese ancestry cases, 1,898 Japanese ancestry controls	6p21.2	CDKN1A	rs1321311-?	NR	1E-10		1.1	[1.07-1.13]	Illumina [NR] (imputed)	N
864	chr6	36622899	36622900	rs1321311	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	6p21.2	CDKN1A	rs1321311-T	0.21	3E-10	(QRS duration)	6.52	[4.50-8.55] % s.d. increase	Illumina [306060]	N
864	chr6	36623378	36623379	rs9470361	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	6p21.2	CDKN1A	rs9470361-A	0.25	3E-27		0.87	[0.71-1.03] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
864	chr6	36625561	36625562	rs9470366	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	QRS duration	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	6p21.2	CDKN1A	rs9470366-T	0.15	4E-7		1.16	[0.71-1.61] unit increase	Affymetrix [2100000] (imputed)	N
865	chr6	36792056	36792057	rs236373	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	6p21.2	CPNE5	rs236373-C	0.727	9E-7				Affymetrix, Illumina [2516789] (imputed)	N
866	chr6	36922683	36922684	rs1405069	20237162	Bozaoglu K	2010-03-17	J Clin Endocrinol Metab	Chemerin, a novel adipokine in the regulation of angiogenesis.	Chemerin levels	858 Mexican American family members and individuals	NA	6p21.2	PI16	rs1405069-?	NR	6E-6				Illumina [542944]	N
868	chr6	37174744	37174745	rs1680005	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	6p21.2	TMEM217	rs1680005-A	NR	7E-6		1.18	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
869	chr6	37278932	37278933	rs149709	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	6p21.2	AK096023, AY927499, C6orf89, CCDC167, CPNE5, FGD2, FTSJD2, MDGA1, MIR4462, MTCH1, PI16, PIM1, PPIL1, RNF8, TBC1D22B, TMEM217, TRNA_Gln, ZFAND3	rs149709-C	0.2018	2E-6		1.19	[1.08-1.30]	Illumina [7300000] (imputed)	N
870	chr6	37451695	37451696	rs904251	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	6p21.2	C6orf129	rs904251-?	0.3806	7E-6	(SWM strategy)			Illumina [475971]	N
870	chr6	37454826	37454827	rs2646928	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p21.2	C6orf129, FTSJD2, FLJ45825	rs2646928-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
871	chr6	37487043	37487044	rs1757171	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	6p21.2	AL353597.20	rs1757171-?	0.3884	7E-6	(SWM strategy)			Illumina [475971]	N
871	chr6	37532102	37532103	rs9394438	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.2	NR	rs9394438-G	0.713317013374944	7E-6	(IGP30)	0.1671	[0.094-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
872	chr6	37698602	37698603	rs6458016	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	6p21.2	NR	rs6458016-T	0.792	3E-7	(EA)	0.062	[0.038-0.086] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
875	chr6	38036419	38036420	rs17589516	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	6p21.2	ZFAND3	rs17589516-C	0.02	4E-6	(HOMA-IR)	45.0	[24.00 - 69.00] % increase	Affymetrix [872243]	N
875	chr6	38106843	38106844	rs9470794	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	6p21.2	ZFAND3	rs9470794-C	0.27	2E-10		1.12	[1.08-1.16]	Affymetrix, Illumina [2626356] (imputed)	N
877	chr6	38365840	38365841	rs9296249	17637780	Winkelmann J	2007-07-18	Nat Genet	Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.	Restless legs syndrome	401 European ancestry cases, 1,644 European ancestry controls	906 European ancestry cases, 891 European ancestry controls, 255 French Canadian cases, 287 French Canadian controls	6p21.2	BTBD9	rs9296249-T	0.76	4E-18		1.67	[1.49-1.89]	Affymetrix [236758]	N
877	chr6	38365872	38365873	rs9357271	21779176	Winkelmann J	2011-07-14	PLoS Genet	Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.	Restless legs syndrome	922 European ancestry cases, 1,526 European ancestry controls	3,935 European ancestry cases, 5,754 European ancestry controls	6p21.2	BTBD9	rs9357271-T	0.76	8E-22		1.47	[1.35-1.47]	Affymetrix [301406]	N
877	chr6	38400138	38400139	rs4565302	25353672	Fernandez-Navarro P	2014-10-29	Int J Cancer	Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.	Mammographic density	239 European ancestry low mammographic density females, 239 European ancestry high mammographic density females	NA	6p21.2	NR	rs4565302-C	0.09	5E-6		2.94	[1.79-5.00]	Illumina [575374]	N
878	chr6	38440969	38440970	rs3923809	17634447	Stefansson H	2007-07-19	N Engl J Med	A genetic risk factor for periodic limb movements in sleep.	Restless legs syndrome	306 European ancestry cases, 15,664 European ancestry controls	311 European ancestry cases, 1,895 European ancestry controls	6p21.2	BTBD9	rs3923809-A	0.66	1E-17		1.9	[1.50-2.20]	Illumina [306937]	N
883	chr6	39117697	39117698	rs2115200	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders	543 European ancestry female cases, 1,116 European ancestry female controls	NA	6p21.2	KCNK5, C6orf64	rs2115200-T	0.768	2E-6		0.098	[0.057-0.139] unit increase	Illumina [6150213] (imputed)	N
883	chr6	39124681	39124682	rs9942541	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	6p21.2	KCNK5	rs9942541-T	0.05	5E-6	(Age 8)	0.23	[0.13-0.33] unit increase	Illumina [2293137] (imputed)	N
883	chr6	39183469	39183470	rs10456100	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	6p21.2	intergenic	rs10456100-T	0.27	5E-7		1.07	[1.04-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
884	chr6	39202156	39202157	rs9366999	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.2	KCNK5	rs9366999-A	0.409	7E-6	(WC )	0.03	[NR] cm increase	Illumina [899892]	N
884	chr6	39250836	39250837	rs2758886	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.2	KCNK17	rs2758886-A	0.3	3E-8		0.023	[NR] unit increase	NR [NR] (imputed)	N
884	chr6	39284049	39284050	rs1535500	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p21.2	KCNK16	rs1535500-T	0.59	8E-6		1.13	[1.08-1.19]	Affymetrix, Illumina [2500000] (imputed)	N
884	chr6	39284049	39284050	rs1535500	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	6p21.2	KCNK16	rs1535500-T	0.42	2E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [2626356] (imputed)	N
884	chr6	39307031	39307032	rs9471075	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	6p21.2	KIF6	rs9471075-A	0.0247	1E-6		5.25	[NR] unit decrease	Illumina [1216189] (imputed)	N
885	chr6	39361853	39361854	rs9296295	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.2	KIF6	rs9296295-A	0.06	6E-6	(TG/HDLC )	0.03	[NR] mmol/L increase	Illumina [899892]	N
886	chr6	39528981	39528982	rs9380880	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	6p21.2	LOC100131899, KIF6	rs9380880-?		1E-7	(Hispanic)			Illumina [NR]	N
886	chr6	39539206	39539207	rs4714261	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Attention deficit hyperactivity disorder symptoms (interaction)	909 European ancestry trios	NA	6p21.2	KIF6	rs4714261-T	0.17	2E-6	(int, MW)	0.95	[NR] unit increase	Perlegen [429981]	N
888	chr6	39727832	39727833	rs417096	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	6p21.2	DAAM2	rs417096-G	0.356	7E-25		1.43	[NR]	Illumina [8207076] (imputed)	N
888	chr6	39784364	39784365	rs2395730	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	6p21.2	DAAM2	rs2395730-C	0.42	8E-8	(FEV1/FVC)	0.044	[0.028-0.060] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
892	chr6	40328377	40328378	rs2038868	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	6p21.2	NR	rs2038868-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
892	chr6	40348652	40348653	rs2033529	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.2	TDRG1	rs2033529-G	0.293	1E-8	(EA)	0.019	[0.013-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
892	chr6	40348652	40348653	rs2033529	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.2	TDRG1	rs2033529-G	0.291	3E-6	(EA, women)	0.02	[0.012-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
892	chr6	40348652	40348653	rs2033529	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.2	TDRG1	rs2033529-G	0.289	1E-8		0.018	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
893	chr6	40440499	40440500	rs9296335	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.2	LRFN2	rs9296335-A	0.033	8E-6	(HDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
893	chr6	40440499	40440500	rs9296335	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.2	LRFN2	rs9296335-A	0.033	3E-6	(TG/HDLC )	0.03	[NR] mmol/L increase	Illumina [899892]	N
894	chr6	40536127	40536128	rs2494938	23103227	Jin G	2012-10-25	Am J Hum Genet	Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.	Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)	2,331 Han Chinese ancestry lung cancer cases, 1,006 Han Chinese ancestry non-cardia gastric cancer cases, 2,031 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 4,006 Han Chinese ancestry controls	2,665 Han Chinese ancestry lung cancer cases, 3,330 Han Chinese ancestry non-cardia gastric cancer cases, 3,006 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 11,436 Han Chinese ancestry controls	6p21.1	LRFN2	rs2494938-A	0.23	5E-9	(NCGC)	1.18	[1.12-1.25]	Affymetrix [NR]	N
894	chr6	40536127	40536128	rs2494938	23103227	Jin G	2012-10-25	Am J Hum Genet	Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.	Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)	2,331 Han Chinese ancestry lung cancer cases, 1,006 Han Chinese ancestry non-cardia gastric cancer cases, 2,031 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 4,006 Han Chinese ancestry controls	2,665 Han Chinese ancestry lung cancer cases, 3,330 Han Chinese ancestry non-cardia gastric cancer cases, 3,006 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 11,436 Han Chinese ancestry controls	6p21.1	LRFN2	rs2494938-A	0.23	2E-6	(Lung Cancer)	1.15	[1.08-1.22]	Affymetrix [NR]	N
894	chr6	40536127	40536128	rs2494938	23103227	Jin G	2012-10-25	Am J Hum Genet	Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.	Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)	2,331 Han Chinese ancestry lung cancer cases, 1,006 Han Chinese ancestry non-cardia gastric cancer cases, 2,031 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 4,006 Han Chinese ancestry controls	2,665 Han Chinese ancestry lung cancer cases, 3,330 Han Chinese ancestry non-cardia gastric cancer cases, 3,006 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 11,436 Han Chinese ancestry controls	6p21.1	LRFN2	rs2494938-A	0.23	1E-12	(All Cancers)	1.15	[1.10-1.19]	Affymetrix [NR]	N
896	chr6	40802260	40802261	rs10484761	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	6p21.1	UNC5CL	rs10484761-G	0.09	7E-12		1.33	[1.23-1.45]	Affymetrix [666141]	N
896	chr6	40828284	40828285	rs6917512	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.1	NR	rs6917512-C	NR	2E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
897	chr6	41005501	41005502	rs2294693	26129866	Hu N	2015-06-30	Gut	Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.	Non-cardia gastric cancer	1,027 East Asian ancestry cases, 2,708 East Asian ancestry controls	3,663  East Asian ancestry cases, 7,548  East Asian ancestry controls	6p21.1	UNC5CL, TSPO2	rs2294693-C	0.238	3E-8		1.18	[1.12-1.26]	Illumina [556896]	N
897	chr6	41005501	41005502	rs2294693	26129866	Hu N	2015-06-30	Gut	Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.	Gastric cancer	2,350 East Asian ancestry cases, 2,708 East Asian ancestry controls	7,408  East Asian ancestry cases, 7,548  East Asian ancestry controls	6p21.1	UNC5CL, TSPO2	rs2294693-C	0.238	7E-8		1.14	[1.09-1.20]	Illumina [556896]	N
897	chr6	41020921	41020922	rs2073016	26222057	Pander J	2015-07-29	PLoS One	Genome Wide Association Study for Predictors of Progression Free Survival in Patients on Capecitabine, Oxaliplatin, Bevacizumab and Cetuximab in First-Line Therapy of Metastatic Colorectal Cancer.	Progression free survival in metastatic colorectal cancer (CAPOX-B vs CAPOX-B plus cetuximab)	256 cases treated with CAPOX-B plus cetuximab, 264 cases treated with CAPOX-B	NA	6p21.1	intergenic	rs2073016-T	NR	4E-6		1.62	[1.31-2]	Illumina [2850023] (imputed)	N
898	chr6	41127971	41127972	rs7748513	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	6p21.1	TREM2	rs7748513-G	0.432	1E-10	(AA women)			Affymetrix [up to 2203609] (imputed)	N
898	chr6	41129251	41129252	rs75932628	23150908	Jonsson T	2012-11-14	N Engl J Med	Variant of TREM2 associated with the risk of Alzheimer's disease.	Alzheimer's disease	3,550 European ancestry cases, 8,888 European ancestry controls	694 European ancestry cases, 4,375 European ancestry controls, 1,343 cases, 5,352 controls	6p21.1	TREM2	rs75932628-T	0.0063	2E-12		2.9	[2.16-3.91]	NR [NR]	N
898	chr6	41154649	41154650	rs9381040	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	6p21.1	TREML2	rs9381040-C	0.703	6E-7		1.0753	[1.04-1.1]	Illumina [7055881] (imputed)	N
899	chr6	41232551	41232552	rs74851542	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p21.1	NR	rs74851542-?	NR	2E-7	(Latino)	1.1461	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
900	chr6	41303804	41303805	rs9471576	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	6p21.1	NCR2	rs9471576-?	NR	2E-6		0.009	[NR] unit increase	Illumina [478011]	N
900	chr6	41336100	41336101	rs6922617	23562540	Cruchaga C	2013-04-04	Neuron	GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.	Alzheimer's disease biomarkers	591 European ancestry cases, 687 European ancestry controls		6p21.1	TREM, NCR2	rs6922617-A	NR	4E-8	(ptau)	0.094	[NR] unit decrease	Illumina [5815690] (imputed)	N
900	chr6	41379314	41379315	rs7762544	23459936	Divaris K	2013-03-04	Hum Mol Genet	Exploring the genetic basis of chronic periodontitis: a genome-wide association study.	Periodontitis	4,504 European ancestry individuals	656 European ancestry and African American individuals	6p21.1	NCR2	rs7762544-?	NR	8E-8	(Moderate CPd)	1.4	[1.24-1.59]	Affymetrix [2135236] (imputed)	N
901	chr6	41536426	41536427	rs1983891	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	6p21.1	FOXP4	rs1983891-T	0.41	8E-8		1.15	[1.09-1.21]	Illumina [510687]	N
902	chr6	41622096	41622097	rs45483501	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	6p21.1	NR	rs45483501-C	0.875	8E-6		1.22	[1.11-1.33]	Illumina [8363971] (imputed)	N
902	chr6	41623032	41623033	rs2143678	21779381	Schurks M	2011-07-14	PLoS One	Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.	Cardiovascular disease risk factors	5,122 European ancestry female migrain cases	NA	6p21.1	MDF1	rs2143678-?	NR	4E-7	(migraineurs with aura - major CVD)	3.05	[1.98-4.96]	Illumina [339596]	N
902	chr6	41650735	41650736	rs2842643	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	6p21.1	TFEB	rs2842643-?	NR	3E-6				Affymetrix [504219]	N
904	chr6	41890981	41890982	rs2479724	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p21.1	BYSL, FRS3	rs2479724-T	0.45	1E-12		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
904	chr6	41905274	41905275	rs3218097	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	6p21.1	BYSL, USP49, CCND3, MED20	rs3218097-T	NR	9E-8		0.422	[0.27-0.58] unit decrease	Illumina [544917]	N
904	chr6	41905274	41905275	rs3218097	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Red blood cell count	14,392 Japanese ancestry individuals	NA	6p21.1	BYSL, USP49, CCND3, MED20	rs3218097-T	0.19	1E-10		0.097	[0.068-0.126] unit increase	Illumina [561583]	N
904	chr6	41905274	41905275	rs3218097	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	6p21.1	BYSL, USP49, CCND3, MED20	rs3218097-A	0.19	4E-27		0.162	[0.13-0.19] unit decrease	Illumina [561583]	N
904	chr6	41905274	41905275	rs3218097	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	6p21.1	BYSL, USP49, CCND3, MED20	rs3218097-A	0.19	2E-20		0.139	[0.11-0.17] unit decrease	Illumina [561583]	N
904	chr6	41914377	41914378	rs9349204	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	6p21.1	CCND3	rs9349204-G	0.27	2E-40	(EA, MCV)	0.367	[0.31-0.42] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
904	chr6	41925158	41925159	rs9349205	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	6p21.1	BYSL, CCND3	rs9349205-A	NR	1E-31		0.01	[0.004-0.006] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
904	chr6	41925158	41925159	rs9349205	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	6p21.1	BYSL, CCND3	rs9349205-A	NR	8E-20		0.01	[0.004-0.006] pg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
904	chr6	41925289	41925290	rs11970772	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p21.1	BYSL, CCND3	rs11970772-T	NR	7E-19	(MCV)	0.58	[0.44-0.70] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
904	chr6	41925303	41925304	rs11968166	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	6p21.1	CCND3	rs11968166-?	NR	8E-6				Illumina [874956]	N
905	chr6	41962670	41962671	rs9357377	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	6p21.1	CCND3	rs9357377-A		5E-6		0.2747	unit increase	Illumina [5767231] (imputed)	N
905	chr6	41993687	41993688	rs12214723	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	6p21.1	TAF8	rs12214723-?	NR	3E-6		6.202	[3.7-8.7] unit decrease	Illumina [498648]	N
905	chr6	41993687	41993688	rs12214723	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	6p21.1	TAF8	rs12214723-?	NR	4E-6		17.14	[10.19-24.09] unit decrease	Illumina [498648]	N
905	chr6	41993687	41993688	rs12214723	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	6p21.1	TAF8	rs12214723-?	NR	7E-6		3.726	[2.17-5.28] unit decrease	Illumina [498648]	N
905	chr6	42054345	42054346	rs2492937	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	6p21.1	C6orf132	rs2492937-?		6E-6				Illumina [859311]	N
909	chr6	42495277	42495278	rs16895812	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.1	UBR2	rs16895812-G	0.181	3E-6	(NEFA )	0.03	[NR] mmol/L increase	Illumina [899892]	N
909	chr6	42561971	42561972	rs9381199	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	6p21.1	NR	rs9381199-?		2E-6	(females)			Illumina [1211988] (imputed)	N
911	chr6	42731114	42731115	rs6458307	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	6p21.1	NR	rs6458307-?	0.69	4E-6		1.19	[1.04-1.33]	Affymetrix [469557]	N
912	chr6	42873244	42873245	rs9394931	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	8,631 European ancestry individuals	NA	6p21.1	PTCRA, RPL7L1	rs9394931-T	0.41	2E-6		0.15	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
912	chr6	42925802	42925803	rs9296404	24651765	Williams SR	2014-03-20	PLoS Genet	Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.	Plasma homocysteine levels (post-methionine load test)	2,710 European and other ancestry individuals, 1,725 European ancestry individuals, 258 African ancestry individuals, 117 individuals	NA	6p21.1	GNMT	rs9296404-T	0.48	2E-63		0.356	[0.31-0.41] unit increase	Affymetrix, Illumina [up to 11000000] (imputed)	N
912	chr6	42932199	42932200	rs1129187	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	6p21.1	PEX6	rs1129187-T	0.45	7E-6		1.13	[1.07-1.19]	NR [NR]	N
914	chr6	43153786	43153787	rs61743561	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.1	CUL9	rs61743561-A	0.0050	9E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
914	chr6	43193317	43193318	rs115842765	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6p21.1	NR	rs115842765-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
915	chr6	43272187	43272188	rs4149178	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	6p21.1	SLC22A7	rs4149178-A	0.84	1E-6	(candidate)	0.034	[0.02-0.048] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
915	chr6	43341688	43341689	rs111547017	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.1	NR	rs111547017-A	NR	1E-6		1.1	[NR]	Illumina [7158791] (imputed)	N
916	chr6	43449229	43449230	rs61018535	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6p21.1	TJAP1	rs61018535-?	NR	2E-7				Affymetrix [5486770] (imputed)	N
918	chr6	43757895	43757896	rs998584	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.1	VEGFA	rs998584-C	0.521	3E-6		0.016	[0.009-0.0224] kg/m2 increase	Affymetrix, Illumina [2550021]	N
918	chr6	43757895	43757896	rs998584	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.1	VEGFA	rs998584-C	0.512	9E-7	(EA)	0.017	[0.01-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
918	chr6	43757895	43757896	rs998584	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs998584-A	0.4833	1E-29	(EA)	0.0432	[0.036-0.051] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
918	chr6	43757895	43757896	rs998584	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs998584-A	0.4827	7E-34	(EA, women)	0.0631	[0.053-0.073] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
918	chr6	43757895	43757896	rs998584	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs998584-A	0.4737	1E-28		0.0418	[0.034-0.049] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
918	chr6	43757895	43757896	rs998584	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs998584-A	0.4727	8E-33	(women)	0.061	[0.051-0.071] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
918	chr6	43757895	43757896	rs998584	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.1	VEGFA	rs998584-A	0.49	3E-15		0.49	[NR] mg/dL increase	NR [NR] (imputed)	N
918	chr6	43757895	43757896	rs998584	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.1	VEGFA	rs998584-A	0.49	2E-11		0.026	[NR] unit decrease	NR [NR] (imputed)	N
918	chr6	43757895	43757896	rs998584	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	6p21.1	VEGFA	rs998584-C	0.5	3E-8		0.03	[0.020-0.040] unit increase	Affymetrix, Illumina [NR] (imputed)	N
918	chr6	43758872	43758873	rs6905288	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	6p21.1	VEGFA	rs6905288-T	NR	7E-8		1.23	[NR]	Affymetrix [~ 5000000] (imputed)	N
918	chr6	43758872	43758873	rs6905288	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p21.1	VEGFA	rs6905288-A	0.56	6E-25		0.04	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
918	chr6	43764550	43764551	rs1358980	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6p21.1	VEGFA	rs1358980-T	0.47	4E-9		0.039	[0.025-0.053] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
918	chr6	43764550	43764551	rs1358980	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs1358980-T	0.4676	3E-27	(EA)	0.0392	[0.032-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
918	chr6	43764550	43764551	rs1358980	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs1358980-T	0.466	4E-34	(EA, women)	0.0595	[0.05-0.069] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
918	chr6	43764550	43764551	rs1358980	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs1358980-T	0.4628	1E-26		0.0376	[0.031-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
918	chr6	43764550	43764551	rs1358980	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs1358980-T	0.459	2E-33	(women)	0.0579	[0.048-0.067] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
918	chr6	43764550	43764551	rs1358980	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	6p21.1	VEGFA	rs1358980-T		2E-11	(WHRadjBMI, women)			Affymetrix, Illumina [2846694] (imputed)	N
919	chr6	43795967	43795968	rs943072	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6p21.1	intergenic	rs943072-G	0.09	2E-10		1.15	[1.08-1.23]	Affymetrix, Illumina [~ 1100000] (imputed)	N
919	chr6	43802562	43802563	rs4714699	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs4714699-C	0.3799	1E-6	(EA, women)	0.0241	[0.014-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
919	chr6	43802562	43802563	rs4714699	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.1	VEGFA	rs4714699-C	0.3747	2E-6	(women)	0.0233	[0.014-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
919	chr6	43804570	43804571	rs729761	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	6p21.1	VEGFA	rs729761-T	0.30	8E-16		0.047	[0.036-0.058] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
919	chr6	43806608	43806609	rs881858	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	6p21.1	VEGFA	rs881858-G	0.28	9E-14	(eGFRcrea)	1.08	[0.007-0.015] ml/min/1.73 m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
919	chr6	43811761	43811762	rs9472138	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p21.1	VEGFA	rs9472138-T		2E-7		1.06	[1.04-1.08]	Affymetrix, Illumina [2500000] (imputed)	N
919	chr6	43811761	43811762	rs9472138	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6p21.1	VEGFA	rs9472138-T	0.285	7E-16	(TSH)	0.079	[0.059-0.099] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
919	chr6	43811761	43811762	rs9472138	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6p21.1	VEGFA	rs9472138-T	0.285	6E-12	(TSH - Females)	0.09	[0.065-0.115] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
919	chr6	43811761	43811762	rs9472138	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6p21.1	VEGFA	rs9472138-T	0.285	5E-6	(TSH - Males)	0.065	[0.038-0.092] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
919	chr6	43811761	43811762	rs9472138	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	6p21.1	VEGFA	rs9472138-T	0.28	4E-6		1.06	[1.04-1.09]	Affymetrix, Illumina [2202892] (imputed)	N
919	chr6	43826626	43826627	rs943080	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.1	VEGFA	rs943080-T	0.51	9E-16		1.15	[1.12-1.18]	Affymetrix, Illumina [2442884] (imputed)	N
919	chr6	43828581	43828582	rs4711751	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.1	VEGFA	rs4711751-T	0.50	9E-9		1.15	[NR]	Affymetrix [6036699] (imputed)	N
919	chr6	43897726	43897727	rs9472155	21757650	Debette S	2011-07-14	Circ Res	Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.	Vascular endothelial growth factor levels	3,527 European ancestry individuals	1,727 European ancestry individuals	6p21.1	MGC45491, VEGF	rs9472155-T	0.22	2E-26				Affymetrix [2540233] (imputed)	N
919	chr6	43904779	43904780	rs11755845	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6p21.1	VEGFA	rs11755845-T	0.266	3E-7	(TSH - Males)	0.076	[0.047-0.105] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
919	chr6	43904779	43904780	rs11755845	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6p21.1	VEGFA	rs11755845-T	0.266	2E-10	(TSH)	0.065	[0.045-0.085] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
920	chr6	43925525	43925526	rs4513773	21757650	Debette S	2011-07-14	Circ Res	Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.	Vascular endothelial growth factor levels	3,527 European ancestry individuals	1,727 European ancestry individuals	6p21.1	MRPL14, MGC45491	rs4513773-G	0.47	1E-584				Affymetrix [2540233] (imputed)	N
920	chr6	43970826	43970827	rs2295334	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	6p21.1	C6orf223	rs2295334-?	NR	6E-18		1.28	[NR]	Illumina [4471719] (imputed)	N
920	chr6	44021285	44021286	rs9472202	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Behavioral disturbance or psychiatric symptoms in prion disease	Up to 170 cases	NA	6p21.1	C6orf223	rs9472202-?	0.208	8E-6		3.32	[1.92-5.73]	Illumina [518938]	N
921	chr6	44065310	44065311	rs7742824	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	6p21.1	MRPL14	rs7742824-A	0.224	9E-6	(% improvement - 2 weeks)	1.185	[1.11-1.26]	Affymetrix, Illumina [1200000] (imputed)	N
921	chr6	44066457	44066458	rs12527942	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	6p21.1	MRPL14	rs12527942-T	NR	9E-7	(Cases)	0.32	[-0.3464-0.9864] unit increase	Illumina [6900000] (imputed)	N
922	chr6	44172062	44172063	rs35131064	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	6p21.1	NR	rs35131064-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
922	chr6	44232919	44232920	rs2233434	23028356	Myouzen K	2012-09-13	PLoS Genet	Functional variants in NFKBIE and RTKN2 involved in activation of the NF-&#x003ba;B pathway are associated with rheumatoid arthritis in Japanese.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	5,604 Japanese ancestry cases, 31,982 Japanese ancestry controls	6p21.1	NFKBIE	rs2233434-G	0.215	1E-15		1.2	[1.15-1.26]	Illumina [NR]	N
922	chr6	44232919	44232920	rs2233434	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	6p21.1	NFKBIE	rs2233434-G	0.21	6E-19		1.19	[1.15-1.24]	Affymetrix, Illumina [1948139]	N
922	chr6	44233920	44233921	rs2233424	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.1	NFKBIE	rs2233424-T	0.21	2E-13	(East Asian)	1.24	[1.17-1.31]	Affymetrix, Illumina [up to 9739303] (imputed)	N
922	chr6	44233920	44233921	rs2233424	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.1	NFKBIE	rs2233424-T	0.12	1E-19		1.26	[1.20-1.32]	Affymetrix, Illumina [up to 9739303] (imputed)	N
922	chr6	44233920	44233921	rs2233424	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.1	NFKBIE	rs2233424-T	0.04	3E-8	(EA)	1.33	[1.20-1.47]	Affymetrix, Illumina [up to 9739303] (imputed)	N
923	chr6	44416076	44416077	rs11572061	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Ischemic stroke	up to 1,365 African American cases, up to 13,154 African American controls	European ancestry individuals (see Traylor, 2012)	6p21.1	CDC5L	rs11572061-A	0.97	1E-6	(AA)	0.59	[0.35-0.83] unit decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
923	chr6	44424799	44424800	rs543844	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	6p21.1	intergenic	rs543844-G	0.34	3E-6		1.06	[1.03-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
924	chr6	44455132	44455133	rs116755262	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6p21.1	NR	rs116755262-?	NR	8E-7				Affymetrix [5486770] (imputed)	N
924	chr6	44538138	44538139	rs927485	25064007	Nakajima M	2014-07-27	Nat Genet	A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.	Ossification of the posterior longitudinal ligament of the spine	1,112 Japanese ancestry cases, 6,810 Japanese ancestry controls	548 Japanese ancestry cases, 6,469 Japanese ancestry controls	6p21.1	CDC5L, SUPT3H, MIR4642	rs927485-C	0.137	9E-9		1.33	[1.21-1.46]	Illumina [5163786] (imputed)	N
925	chr6	44594158	44594159	rs556621	22941190	Holliday EG	2012-09-02	Nat Genet	Common variants at 6p21.1 are associated with large artery atherosclerotic stroke.	Stroke (ischemic)	421 European ancestry large artery atherosclerosis cases, 741 European ancestry ischemic stroke cases, 1,244 European ancestry controls	1,715 European ancestry large artery atherosclerosis cases, 9,552 European ancestry ischemic stroke cases, 52,695 European ancestry controls	6p21.1	CDC5L, SUPT3H	rs556621-A	0.30	5E-8	(LAA)	1.21	[1.13-1.30]	Illumina [551514]	N
925	chr6	44596340	44596341	rs632728	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Large artery stroke	2,167 cases, 49,159 controls	NA	6p21.1	SUPT3H	rs632728-T		2E-7		1.19	[1.11-1.28]	Affymetrix, Illumina [~ 2400000] (imputed)	N
925	chr6	44639183	44639184	rs11755164	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	6p21.1	SUPT3H	rs11755164-T	0.4	6E-11	(LSBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
926	chr6	44739948	44739949	rs1342371	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.1	SUPT3H	rs1342371-A	0.088	2E-6	(IGF1 bound )	0.03	[NR] ng/mL increase	Illumina [899892]	N
926	chr6	44769236	44769237	rs7770848	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	6p21.1	intergenic	rs7770848-?	NR	2E-7				Affymetrix [786195]	N
926	chr6	44777690	44777691	rs10948172	22763110	Loughlin	2012-07-03	Lancet	Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.	Osteoarthritis	7,410 European ancestry cases, 11,009 European ancestry controls	7,473 European ancestry cases, 42,938 European ancestry controls	6p21.1	CDC5L, SUPT3H	rs10948172-G	0.29	6E-7		1.08	[1.05-1.12]	Illumina [485491]	N
927	chr6	44837355	44837356	rs3799977	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	6p21.1	SUPT3H	rs3799977-?	NR	5E-6				Affymetrix [504219]	N
927	chr6	44928952	44928953	rs16872971	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	6p21.1	NR	rs16872971-?		5E-6		1.87	unit increase	Illumina [1211988] (imputed)	N
927	chr6	44928952	44928953	rs16872971	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children	1,686 Bangladeshi women	NA	6p21.1	NR	rs16872971-?		9E-6		1.9	unit increase	Illumina [1211988] (imputed)	N
927	chr6	44946505	44946506	rs9472414	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.1	RUNX2, SUPT3H	rs9472414-A	0.29	2E-6		0.021	[0.0073-0.0347] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
927	chr6	44946505	44946506	rs9472414	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.1	SUPT3H/RUNX2	rs9472414-A	0.22	2E-9		0.026	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
928	chr6	44967489	44967490	rs10948197	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	6p21.1	SUPT3H	rs10948197-C	0.34	8E-6		0.51	[NR] cm decrease	Affymetrix [334546]	N
929	chr6	45095162	45095163	rs9395066	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.1	SUPT3H, RUNX2	rs9395066-C	0.48	8E-6		3.5	[1.93-5.07] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
929	chr6	45181693	45181694	rs10456544	25934476	de Vries PS	2015-05-01	Blood	Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.	ADAMTS13 activity	3,423 European ancestry individuals	2,025 European ancestry individuals	6p21.1	SUPT3H	rs10456544-A	0.0711	1E-8		4.2	unit increase	Illumina [8237900] (imputed)	N
930	chr6	45244414	45244415	rs10948222	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.1	SUPT3H	rs10948222-T	0.418	1E-20		0.031	[0.025-0.037] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
930	chr6	45244414	45244415	rs10948222	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.1	SUPT3H	rs10948222-C	0.6	5E-11		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
932	chr6	45601349	45601350	rs117787235	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6p21.1	NR	rs117787235-?	NR	2E-6	(Native Hawaiian)	0.679	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
933	chr6	45696787	45696788	rs1932040	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	6p21.1	CLIC5, RUNX2	rs1932040-G	0.808	1E-6	(Orange)	2.47	[1.67-3.65]	Affymetrix [~ 2500000] (imputed)	N
935	chr6	45885060	45885061	rs4714888	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	6p21.1	intergenic	rs4714888-T	0.05	8E-6		1.3	[1.16-1.47]	Affymetrix, Illumina [~ 2500000] (imputed)	N
938	chr6	46335168	46335169	rs9357506	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p12.3	RCAN2	rs9357506-G	0.553	7E-6		0.016	[0.0091-0.0233] kg/m2 increase	Affymetrix, Illumina [2550021]	N
940	chr6	46644874	46644875	rs2270450	25429627	Oryoji D	2014-11-27	J Clin Endocrinol Metab	Identification of a Hashimoto thyroiditis susceptibility locus via a genome-wide comparison with Graves' disease.	Hashimoto thyroiditis versus Graves' disease	263 Japanese ancestry Hashimoto thyroiditis cases, 260 Japanese ancestry Graves' disease cases	181 Japanese ancestry Hashimoto thyroiditis cases, 286 Japanese ancestry Graves' disease cases	6p12.3	SLC25A27	rs2270450-T	0.178	1E-6		1.75	[1.40-2.19]	Illumina [546173]	N
941	chr6	46675024	46675025	rs7756935	22003152	Grallert H	2011-10-14	Eur Heart J	Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.	Lipoprotein-associated phospholipase A2 activity and mass	12,126 European ancestry individuals, 1,538 individuals	NA	6p12.3	PLA2G7	rs7756935-A	0.81	1E-10	(Activity concentrations)	0.027	[0.019-0.035] unit decrease	Affymetrix, Illumina [2661766] (imputed)	N
941	chr6	46682078	46682079	rs1362931	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity and mass	6,851 European ancestry individuals	13,664 European ancestry individuals	6p12.3	PLA2G7	rs1362931-A	0.19	3E-19	(activity)	0.0231	[0.016-0.030] ng/ml increase	Illumina [796174]	N
941	chr6	46684221	46684222	rs1805017	22003152	Grallert H	2011-10-14	Eur Heart J	Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.	Lipoprotein-associated phospholipase A2 activity and mass	12,126 European ancestry individuals, 1,538 individuals	NA	6p12.3	PLA2G7	rs1805017-T	0.26	2E-23	(Mass concentrations)	0.043	[0.035-0.051] unit increase	Affymetrix, Illumina [2661766] (imputed)	N
941	chr6	46684221	46684222	rs1805017	20442857	Suchindran S	2010-04-29	PLoS Genet	Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.	Lipoprotein-associated phospholipase A2 activity and mass	6,668 European ancestry individuals	NA	6p12.3	PLA2G7	rs1805017-T	0.26	6E-14	(mass)	11.1	[NR] ng/mL increase	Affymetrix [360811]	N
945	chr6	47230614	47230615	rs2103868	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	6p12.3	TNFRSF21	rs2103868-?	0.26	5E-6				Affymetrix [253903]	N
947	chr6	47453377	47453378	rs9349407	21460841	Naj AC	2011-04-03	Nat Genet	Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	8,309 European ancestry cases, 7,366 European ancestry controls	10,523 European ancestry cases, 28,231 European ancestry controls	6p12.3	CD2AP	rs9349407-C	0.27	9E-9		1.11	[1.07-1.15]	Affymetrix, Illumina [2324889] (imputed)	N
947	chr6	47487761	47487762	rs10948363	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	6p12.3	CD2AP	rs10948363-G	0.266	5E-11		1.1	[1.07-1.13]	Illumina [7055881] (imputed)	N
947	chr6	47552919	47552920	rs6940729	26519441	Kim S	2015-10-30	J Alzheimers Dis	Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians.	Plasma homocysteine levels	853 African American cognitively normal individuals, 45 African American dementia cases, 934 Yoruban ancestry cognitively normal individuals, 26 Yoruban ancestry dementia cases	NA	6p12.3	CD2AP	rs6940729-T	0.4775	5E-8		0.027	[NR] unit decrease	Illumina [NR] (imputed)	N
950	chr6	47882547	47882548	rs12209128	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	8,631 European ancestry individuals	NA	6p12.3	C6orf138	rs12209128-T	0.379	3E-6		0.15	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
954	chr6	48416111	48416112	rs180781551	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6p12.3	NR	rs180781551-?	NR	6E-7	(Native Hawaiian)	1.2508	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
961	chr6	49382192	49382193	rs9369898	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	6p12.3	MUT	rs9369898-A	0.62	2E-10		0.0449	[0.031-0.059] unit increase	Affymetrix, Illumina [2090256] (imputed)	N
961	chr6	49409486	49409487	rs9473555	19744961	Hazra A	2009-09-10	Hum Mol Genet	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	Folate pathway vitamin levels	3,305 European ancestry females, 1,458 European ancestry males	NA	6p12.3	MUT	rs9473555-?	0.35	5E-8	(Plasma Vitamin B12)	0.04	[0.020-0.060] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
962	chr6	49488907	49488908	rs9473582	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	6p12.3	GLYATL3	rs9473582-?	0.40	8E-7				Illumina [448293]	N
963	chr6	49556792	49556793	rs74745534	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	6p12.3	RHAG	rs74745534-T	0.02	1E-6		2.5	[2.15-2.85]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
968	chr6	50275257	50275258	rs17665162	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p12.3	DEFB112	rs17665162-C	0.058	1E-6	(EA)	0.033	[0.02-0.046] kg/m2 increase	Affymetrix, Illumina [2550021]	N
968	chr6	50275257	50275258	rs17665162	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p12.3	DEFB112	rs17665162-C	0.058	1E-6		0.032	[0.019-0.045] kg/m2 increase	Affymetrix, Illumina [2550021]	N
969	chr6	50352135	50352136	rs6921059	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	6p12.3	NR	rs6921059-?	NR	4E-6				NR [up to 8466825] (imputed)	N
971	chr6	50596452	50596453	rs1161397	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Overweight status	531 Bangladeshi ancestry overweight females, 1,269 Bangladeshi ancestry normal weight females, 338 Bangladeshi ancestry overweight males, 1,106 Bangladeshi ancestry normal weight males	NA	6p12.3	DEFB112, TFAP2D	rs1161397-A	0.105	9E-7	(males)	0.127	[0.076-0.178] unit increase	Illumina [1208102] (imputed)	N
972	chr6	50786007	50786008	rs2206271	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	6p12.3	TFAP2B	rs2206271-A	0.32	2E-7		0.0055	[0.0035-0.0075] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
972	chr6	50798525	50798526	rs2206277	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	6p12.3	TFAP2B	rs2206277-T	0.18	7E-16	(Overweight)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
972	chr6	50798525	50798526	rs2206277	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	6p12.3	TFAP2B	rs2206277-T	0.18	5E-22	(Obesity class I)	1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
972	chr6	50798525	50798526	rs2206277	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	6p12.3	TFAP2B	rs2206277-A	NR	1E-7	(WC-GLUC)	0.17	[0.11-0.23] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
972	chr6	50803049	50803050	rs987237	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	6p12.3	TFAP2B	rs987237-G	0.18	2E-11		1.2	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
972	chr6	50803049	50803050	rs987237	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	6p12.3	TFAP2B	rs987237-G	0.18	3E-20		0.13	[0.07-0.19] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
972	chr6	50803049	50803050	rs987237	19557161	Lindgren CM	2009-06-26	PLoS Genet	Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.	Adiposity	38,580 European ancestry individuals	Up to 102,064 European ancestry individuals	6p12.3	TFAP2B	rs987237-G	0.164	2E-11	(WC)	0.04	[0.03-0.05] z-score unit increase	Affymetrix, Illumina [2573738] (imputed)	N
972	chr6	50834156	50834157	rs9473924	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	6p12.3	TFAP2B	rs9473924-T	0.29	4E-7		0.0308	[0.019-0.043] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
972	chr6	50836278	50836279	rs734597	21935397	Paternoster L	2011-09-15	PLoS One	Genome-wide population-based association study of extremely overweight young adults--the GOYA study.	Obesity (extreme)	2,633 European ancestry extremely obese adult cases, 2,740 European ancestry controls	29,181 European ancestry individuals	6p12.3	TFAP2B	rs734597-A	NR	3E-8				Illumina [545349]	N
972	chr6	50845489	50845490	rs2207139	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p12.3	TFAP2B	rs2207139-G	0.178	2E-16	(EA, men)	0.044	[0.034-0.054] kg/m2 increase	Affymetrix, Illumina [2550021]	N
972	chr6	50845489	50845490	rs2207139	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p12.3	TFAP2B	rs2207139-G	0.177	4E-29	(EA)	0.045	[0.037-0.053] kg/m2 increase	Affymetrix, Illumina [2550021]	N
972	chr6	50845489	50845490	rs2207139	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p12.3	TFAP2B	rs2207139-G	0.177	2E-19	(EA, women)	0.047	[0.036-0.057] kg/m2 increase	Affymetrix, Illumina [2550021]	N
972	chr6	50845489	50845490	rs2207139	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p12.3	TFAP2B	rs2207139-G	0.176	8E-31		0.045	[0.037-0.052] kg/m2 increase	Affymetrix, Illumina [2550021]	N
972	chr6	50845489	50845490	rs2207139	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	6p12.3	TFAP2B	rs2207139-G	0.18	3E-19	(Obesity class II)	1.2	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
974	chr6	50987767	50987768	rs190759	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	6p12.3	intergenic	rs190759-?	0.18	5E-6	(Additive)	1.11	[1.06-1.16]	Affymetrix [319222]	N
974	chr6	51058720	51058721	rs283566	19389651	Smith JG	2009-02-15	Heart Rhythm	Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.	Electrocardiographic conduction measures	1,262 Kosraen individuals	NA	6p12.3	NR	rs283566-?	0.16	9E-6	(P wave duration)			Affymetrix [338049]	N
974	chr6	51068716	51068717	rs7775861	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in non-asthmatics	6,025 European ancestry children, 567 children,  6,334 European ancestry adult individuals, 2,050 adult individuals	NA	6p12.3	AL139097.1	rs7775861-T	0.38	9E-8	(Adults)			Illumina [up to 527642]	N
974	chr6	51099255	51099256	rs7762246	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p12.3	LOC646517	rs7762246-G	0.11	6E-6	(Vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
975	chr6	51159994	51159995	rs1555967	19557197	Heard-Costa NL	2009-06-26	PLoS Genet	NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.	Waist circumference	31,373 European ancestry individuals	38,641 individuals	6p12.3	PKHD1	rs1555967-?	NR	3E-6				Affymetrix, Illumina [up to 512349]	N
978	chr6	51622448	51622449	rs2025751	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	6p12.3	PKHD1	rs2025751-A	0.46	7E-7		0.6	[0.33-0.87] mmHg increase	Illumina [466573]	N
979	chr6	51643013	51643014	rs728996	23633212	Rinella ES	2013-04-30	J Clin Endocrinol Metab	Genome-wide association of single-nucleotide polymorphisms with weight loss outcomes after Roux-en-Y gastric bypass surgery.	Weight loss (gastric bypass surgery)	86 European ancestry individuals with least EBWL, 89 European ancestry individuals with most EBWL	164 European ancestry individuals with least EBWL, 169 European ancestry individuals with most EBWL	6p12.3	PKHD1	rs728996-?	0.53	5E-7		1.67	[NR]	Affymetrix [730767]	N
979	chr6	51643013	51643014	rs728996	23633212	Rinella ES	2013-04-30	J Clin Endocrinol Metab	Genome-wide association of single-nucleotide polymorphisms with weight loss outcomes after Roux-en-Y gastric bypass surgery.	Weight loss (gastric bypass surgery)	86 European ancestry individuals with least EBWL, 89 European ancestry individuals with most EBWL	164 European ancestry individuals with least EBWL, 169 European ancestry individuals with most EBWL	6p12.2	PKHD1	rs728996-?,rs2894788-?,rs6458777-?,rs4715233-?,rs9296661-?,rs1326589-?	0.39	5E-8	(Haplotype - ??????)	10.9	unit decrease	Affymetrix [730767]	N
979	chr6	51643267	51643268	rs2894788	23633212	Rinella ES	2013-04-30	J Clin Endocrinol Metab	Genome-wide association of single-nucleotide polymorphisms with weight loss outcomes after Roux-en-Y gastric bypass surgery.	Weight loss (gastric bypass surgery)	86 European ancestry individuals with least EBWL, 89 European ancestry individuals with most EBWL	164 European ancestry individuals with least EBWL, 169 European ancestry individuals with most EBWL	6p12.2	PKHD1	rs728996-?,rs2894788-?,rs6458777-?,rs4715233-?,rs9296661-?,rs1326589-?	0.39	5E-8	(Haplotype - ??????)	10.9	unit decrease	Affymetrix [730767]	N
979	chr6	51655406	51655407	rs6458777	23633212	Rinella ES	2013-04-30	J Clin Endocrinol Metab	Genome-wide association of single-nucleotide polymorphisms with weight loss outcomes after Roux-en-Y gastric bypass surgery.	Weight loss (gastric bypass surgery)	86 European ancestry individuals with least EBWL, 89 European ancestry individuals with most EBWL	164 European ancestry individuals with least EBWL, 169 European ancestry individuals with most EBWL	6p12.2	PKHD1	rs728996-?,rs2894788-?,rs6458777-?,rs4715233-?,rs9296661-?,rs1326589-?	0.39	5E-8	(Haplotype - ??????)	10.9	unit decrease	Affymetrix [730767]	N
979	chr6	51656387	51656388	rs4715233	23633212	Rinella ES	2013-04-30	J Clin Endocrinol Metab	Genome-wide association of single-nucleotide polymorphisms with weight loss outcomes after Roux-en-Y gastric bypass surgery.	Weight loss (gastric bypass surgery)	86 European ancestry individuals with least EBWL, 89 European ancestry individuals with most EBWL	164 European ancestry individuals with least EBWL, 169 European ancestry individuals with most EBWL	6p12.2	PKHD1	rs728996-?,rs2894788-?,rs6458777-?,rs4715233-?,rs9296661-?,rs1326589-?	0.39	5E-8	(Haplotype - ??????)	10.9	unit decrease	Affymetrix [730767]	N
979	chr6	51666630	51666631	rs10498792	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Prostate cancer	59 cases, 558 controls	NA	6p12.2	PKHD1	rs10498792-?	NR	3E-6				Affymetrix [70897]	N
979	chr6	51673438	51673439	rs9296661	23633212	Rinella ES	2013-04-30	J Clin Endocrinol Metab	Genome-wide association of single-nucleotide polymorphisms with weight loss outcomes after Roux-en-Y gastric bypass surgery.	Weight loss (gastric bypass surgery)	86 European ancestry individuals with least EBWL, 89 European ancestry individuals with most EBWL	164 European ancestry individuals with least EBWL, 169 European ancestry individuals with most EBWL	6p12.2	PKHD1	rs728996-?,rs2894788-?,rs6458777-?,rs4715233-?,rs9296661-?,rs1326589-?	0.39	5E-8	(Haplotype - ??????)	10.9	unit decrease	Affymetrix [730767]	N
979	chr6	51674160	51674161	rs1326589	23633212	Rinella ES	2013-04-30	J Clin Endocrinol Metab	Genome-wide association of single-nucleotide polymorphisms with weight loss outcomes after Roux-en-Y gastric bypass surgery.	Weight loss (gastric bypass surgery)	86 European ancestry individuals with least EBWL, 89 European ancestry individuals with most EBWL	164 European ancestry individuals with least EBWL, 169 European ancestry individuals with most EBWL	6p12.2	PKHD1	rs728996-?,rs2894788-?,rs6458777-?,rs4715233-?,rs9296661-?,rs1326589-?	0.39	5E-8	(Haplotype - ??????)	10.9	unit decrease	Affymetrix [730767]	N
982	chr6	52101738	52101739	rs763780	22142827	Innocenti F	2011-12-05	Clin Cancer Res	A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.	Response to gemcitabine in pancreatic cancer	294 European ancestry cases	NA	6p12.2	IL17F	rs763780-G	NR	3E-8		3.3	[2.10-5.10]	Illumina [330690]	N
988	chr6	52835894	52835895	rs492146	23962720	Speed D	2013-08-19	Hum Mol Genet	A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.	Epilepsy (remission after treatment)	889 European and unknown ancestry epilepsy cases	NA	6p12.2	GSTA4	rs492146-A	0.52	2E-7		1.7544	[NR]	Illumina [6923995] (imputed)	N
990	chr6	53123117	53123118	rs735860	20363506	Meguro A	2010-04-02	Ophthalmology	Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility.	Glaucoma	305 Japanese ancestry cases, 355 Japanese ancestry controls	NA	6p12.1	ELOVL5	rs735860-C	0.48	4E-6		1.69	[1.36-2.11]	Affymetrix [325947]	N
991	chr6	53307693	53307694	rs9395865	22554406	Kang SJ	2012-05-03	Genes Brain Behav	Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6.	Electroencephalographic traits in alcoholism	1,560 European ancestry individuals from 117 families	NA	6p12.1	intergenic	rs9395865-T	0.279	6E-6		0.106	[NR] unit increase	Illumina [634583]	N
993	chr6	53514945	53514946	rs9474614	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p12.1	KLHL31	rs9474614-G	0.224	6E-6	(Total T4 )	0.03	[NR] ug/dL increase	Illumina [899892]	N
996	chr6	53924696	53924697	rs9296736	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	6p12.1	MLIP	rs9296736-T	0.31	3E-9		3.0	[2.10-4.00] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
999	chr6	54265395	54265396	rs16885294	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	6p12.1	TINAG	rs16885294-?	0.07	4E-7				Affymetrix, Illumina [1348798]	N
1002	chr6	54756307	54756308	rs988913	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p12.1	FAM83B, HCRTR2	rs988913-C	0.66	1E-12		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1005	chr6	55148102	55148103	rs9367630	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p12.1	HCRTR2	rs9367630-?	NR	1E-7	(progression)			Illumina [NR]	N
1008	chr6	55473293	55473294	rs11754509	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p12.1	HMGCLL1	rs11754509-G	0.013	3E-7	(Urinary free dopamine: creatinine)	0.03	[NR] unit increase	Illumina [899892]	N
1011	chr6	55950373	55950374	rs12196860	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	6p12.1	COL21A1	rs12196860-?		2E-7				Affymetrix [545513]	N
1013	chr6	56210763	56210764	rs16887812	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p12.1	COL21A1	rs16887812-T	0.35	7E-6		1.1	[1.05-1.14]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1014	chr6	56298721	56298722	rs12195424	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	6p12.1	DST	rs12195424-?		3E-6		0.35	[NR] unit decrease	Illumina [5970354] (imputed)	N
1014	chr6	56342135	56342136	rs34892827	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	6p12.1	DST	rs34892827-T	0.015	2E-6	(HRTSE)	3.45	[2.04-4.86] unit increase	Illumina [799713]	N
1016	chr6	56575670	56575671	rs17684571	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p12.1	NR	rs17684571-C	NR	4E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1018	chr6	56780740	56780741	rs9475752	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p12.1	DST, BEND6	rs9475752-C	0.81	8E-12		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1022	chr6	57401057	57401058	rs9476082	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	8,631 European ancestry individuals	NA	6q11.1	PRIM2	rs9476082-A	0.167	4E-6		0.09	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1029	chr6	58308954	58308955	rs9500256	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	6p11.2	NR	rs9500256-?	0.58	5E-6		2.04	[1.52-2.70]	Illumina [~ 550000]	N
1030	chr6	58371947	58371948	rs1936246	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease (APOE e4 interaction)	10,352 APOE e4+ cases, 9,207 APOE e4+ controls, 7,184 APOE e4- cases, 26,968 APOE e4- controls	1,250 APOE e4+ European ancestry cases, 536 APOE e4+ European ancestry controls, 718 APOE e4- European ancestry cases, 1,699 APOE e4- European ancestry controls	6p11.2	GAPDHP15, RBBP4P4	rs1936246-T	0.43	2E-13		1.04	[1.03-1.05]	NR [NR]	N
1033	chr6	58764530	58764531	rs4513829	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	6p11.2	NR	rs4513829-G	0.104	6E-6		0.179	[0.1-0.26] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1057	chr6	61951859	61951860	rs2342002	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Esophageal adenocarcinoma	1,516 European ancestry cases, 3,209 European ancestry controls	874 European ancestry cases, 6,911 European ancestry controls	6q11.1	NR	rs2342002-T	0.214	9E-7		1.22	[1.13-1.33]	Illumina [922031]	N
1057	chr6	61951859	61951860	rs2342002	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	6q11.1	NR	rs2342002-T	0.214	7E-6		1.15	[1.08-1.23]	Illumina [922031]	N
1063	chr6	62697745	62697746	rs6455128	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6q11.1	KHDRBS2	rs6455128-?	0.19	3E-7	(GOT (AST))			Illumina [496032]	N
1066	chr6	63160146	63160147	rs682238	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	6q11.1	intergenic	rs682238-C	NR	3E-6		0.03	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1071	chr6	63803187	63803188	rs789942	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q12	GLULD1, LGSN	rs789942-C	0.412	5E-6	(Hip circumference change )	0.04	[NR] cm/y increase	Illumina [899892]	N
1074	chr6	64126179	64126180	rs9341835	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q12	NR	rs9341835-C	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1084	chr6	65432282	65432283	rs1889497	24980573	Song F	2014-06-30	Carcinogenesis	Identification of a melanoma susceptibility locus and somatic mutation in TET2.	Melanoma	494 European ancestry cases, 5,628 European ancestry controls	5,383 European ancestry cases, 13,033 European ancestry controls	6q12	EYS	rs1889497-?		2E-6		1.1494	[1.09-1.22]	Affymetrix, Illumina [1579307] (imputed)	N
1085	chr6	65635922	65635923	rs11754641	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6q12	intergenic	rs11754641-C	0.03	8E-6		0.29	[0.16-0.42] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
1085	chr6	65662620	65662621	rs7767572	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	6q12	LOC727977	rs7767572-A		8E-6		0.1	[0.06-0.15] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1089	chr6	66178479	66178480	rs4710520	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q12	NR	rs4710520-C	0.00804562	3E-6	(IGP37)	2.1675	[1.26-3.08] unit increase	Illumina [~ 2500000] (imputed)	N
1089	chr6	66178479	66178480	rs4710520	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q12	NR	rs4710520-C	0.00803558	6E-6	(IGP36)	2.107	[1.2-3.02] unit increase	Illumina [~ 2500000] (imputed)	N
1089	chr6	66178479	66178480	rs4710520	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q12	NR	rs4710520-C	0.00803558	5E-6	(IGP38)	2.1251	[1.21-3.04] unit increase	Illumina [~ 2500000] (imputed)	N
1092	chr6	66565352	66565353	rs9354308	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	6q12	intergenic	rs9354308-?	0.37	3E-7	(serotonin)			Affymetrix [187454]	N
1093	chr6	66598193	66598194	rs10455590	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	6q12	AL391500.13, RP11-707M13.1	rs10455590-?	NR	2E-6				Illumina [990115]	N
1095	chr6	66929047	66929048	rs3857536	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Cu levels)	2,603 European ancestry individuals	NA	6q12	EGFL11	rs3857536-?	NR	4E-6		0.129	[0.074-0.184] unit increase	Illumina [> 2500000] (imputed)	N
1098	chr6	67248409	67248410	rs9445732	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		6q12	intergenic	rs9445732-G	0.05	2E-6		1.284	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1101	chr6	67649215	67649216	rs11970254	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	6q12	intergenic	rs11970254-?	0.35	6E-7				Illumina [448293]	N
1101	chr6	67653278	67653279	rs28631020	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	6q12	intergenic	rs28631020-G	0.925	3E-6		0.08	[0.047-0.113] unit decrease	Illumina [6150213] (imputed)	N
1102	chr6	67885918	67885919	rs9342616	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QT interval	455 African American individuals	NA	6q12	intergenic	rs9342616-A		1E-6		6.92	[NR] ms decrease	Illumina [> 930000]	N
1105	chr6	68181696	68181697	rs4710654	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	6q12	intergenic	rs4710654-?	NR	8E-7	(SF2)			Affymetrix [5476100] (imputed)	N
1106	chr6	68327029	68327030	rs875033	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	6q12	intergenic	rs875033-?	NR	8E-6	(SF2)			Affymetrix [5476100] (imputed)	N
1109	chr6	68713398	68713399	rs9354654	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	6q12	NR	rs9354654-C	0.375	2E-6		1.67	[1.35-2.07]	Illumina [7261187] (imputed)	N
1111	chr6	68984929	68984930	rs10455657	22823124	Verweij KJ	2012-07-24	Addict Biol	The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.	Cannabis use (initiation)	10,091 individuals from 4,622 families	NA	6q12	RP11-406O16.1	rs10455657-T	0.81	6E-6		0.032	unit decrease	Illumina [~ 2400000] (imputed)	N
1111	chr6	69019722	69019723	rs12193070	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q12	NR	rs12193070-A	NR	7E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1112	chr6	69142007	69142008	rs9363918	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	6q12	BAI3	rs9363918-A	NR	1E-6		1.27	[1.15-1.39]	Affymetrix [666141]	N
1113	chr6	69294484	69294485	rs9351730	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	6q12	BAI3	rs9351730-?	NR	5E-6	(rs9364554)	1.25	[1.13-1.37]	Affymetrix, Illumina [1117531] (imputed)	N
1114	chr6	69337786	69337787	rs2585617	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6q12	BAI3	rs2585617-A	NR	6E-7	(EPA)	0.03	[NR] % decrease	Affymetrix, Illumina [NR]	N
1119	chr6	70074231	70074232	rs3757057	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	6q13	LMBRD1, COL19A1, BAI3	rs3757057-T	0.05	4E-6	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
1120	chr6	70182709	70182710	rs78536982	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Triglycerides	1,678 Mexican ancestry high triglyceride cases, 1,645 Mexican ancestry low triglyceride controls	2,129 Mexican ancestry high triglyceride cases, 2,985 Mexican ancestry low triglyceride controls, 903 Mexican ancestry individuals from 73 dyslipidemic families	6q13	BAI3 LMBRD1	rs78536982-T	NR	7E-9		1.38	[1.18-1.61]	Illumina [1661241] (imputed)	N
1121	chr6	70382869	70382870	rs6929584	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	6q13	intergenic	rs6929584-?	NR	5E-6	(Dominant model)	0.66	unit increase	Illumina [542562]	N
1122	chr6	70490510	70490511	rs9346353	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	6q13	LMBRD1	rs9346353-?	NR	3E-6	(EA)	2.03	[1.19-2.87] unit decrease	Affymetrix, Illumina [2033301]	N
1124	chr6	70741208	70741209	rs3793039	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q13	NR	rs3793039-G	0.25306153873553	2E-6	(IGP22)	0.2388	[0.14-0.34] unit increase	Illumina [~ 2500000] (imputed)	N
1128	chr6	71289188	71289189	rs1048886	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	6q13	C6orf57	rs1048886-G	0.18	3E-8	(Indian)	1.54	[1.32-1.80]	Illumina [~ 2000000] (imputed)	N
1131	chr6	71660110	71660111	rs6922893	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q13	B3GAT2	rs6922893-A	0.219	7E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1132	chr6	71726538	71726539	rs1158058	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	6q13	intergenic	rs1158058-T		5E-6		0.2918	unit increase	Illumina [5767231] (imputed)	N
1132	chr6	71776970	71776971	rs11968814	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	6q13	B3GAT2	rs11968814-A	0.16	9E-7		1.17	[0.70-1.64] unit decrease	Illumina [660740]	N
1133	chr6	71862370	71862371	rs13213483	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	6q13	intergenic	rs13213483-A	0.940815741	7E-6		0.07009798	[0.040-0.101] unit decrease	Illumina [1632371] (imputed)	N
1135	chr6	72139571	72139572	rs1727638	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal AB1-42 levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	6q13	intergenic	rs1727638-A	NR	1E-6	(Controls)			Illumina [498205]	N
1135	chr6	72193706	72193707	rs9351814	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	6q13	C6orf155	rs9351814-?		5E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1137	chr6	72406318	72406319	rs4707930	20014019	Dubinsky MC	2010-08-01	Inflamm Bowel Dis	Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.	Response to anti-TNF alpha therapy in inflammatory bowel disease	94 pediatric cases	NA	6q13	intergenic	rs4707930-?	NR	6E-6		6.603	[NR]	Illumina [301742]	N
1137	chr6	72482457	72482458	rs10455248	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6q13	RIMS1	rs10455248-?	NR	4E-6	(TrailsA)			Illumina [up to 563855]	N
1141	chr6	72906752	72906753	rs2249625	24236485	Cornejo-Garcia JA	2013-11-01	Pharmacogenomics	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	112 European ancestry cases, 124 European ancestry controls, 120 Han Chinese ancestry cases, 101 Han Chinese ancestry controls	NA	6q13	RIMS1	rs2249625-C	0.3821	5E-6	(EA)	2.24	[1.55-3.24]	Affymetrix [up to 644046]	N
1143	chr6	73155700	73155701	rs1339227	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q13	NR	rs1339227-C	NR	2E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1143	chr6	73155700	73155701	rs1339227	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	6q13	RIMS1	rs1339227-C	0.632	3E-8		1.0615711	[1.04-1.08]	Affymetrix, Illumina [9005918] (imputed)	N
1143	chr6	73193150	73193151	rs1334346	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (rapamycin)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	6q13	RIMS1	rs1334346-?	NR	8E-6		0.28	[NR] unit decrease	Affymetrix, Illumina [1348798]	N
1146	chr6	73581050	73581051	rs9446777	25672891	Shimizu S	2015-02-11	J Dent Res	A Genome-wide Association Study of Periodontitis in a Japanese Population.	Periodontitis	1,593 Japanese ancestry cases, 7,980 Japanese ancestry controls	1,167 Japanese ancestry cases, 7,178 Japanese ancestry controls	6q13	KCNQ5	rs9446777-G	0.86	5E-6		1.22	[1.14-1.35]	Illumina [597434]	N
1146	chr6	73643288	73643289	rs7744813	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	6q13	KCNQ5	rs7744813-C	0.41	4E-9		0.112	[0.075-0.149] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1147	chr6	73738660	73738661	rs947612	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6q13	KCNQ5	rs947612-A	0.2661	2E-6	(Han)	0.3459	unit increase	Illumina [up to 528294]	N
1150	chr6	74139377	74139378	rs311671	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6q13	NR	rs311671-?	NR	5E-6	(AA)	0.493	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1150	chr6	74139377	74139378	rs311671	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6q13	NR	rs311671-?	NR	4E-7	(AA)	0.4928	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1153	chr6	74458736	74458737	rs9447004	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	6q13	CD109	rs9447004-A	0.48	3E-6		0.012	[0.0061-0.0179] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1156	chr6	74871230	74871231	rs6912405	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q13	CD109	rs6912405-G	0.462	9E-6	(Free T3 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
1158	chr6	75158265	75158266	rs72960926	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	6q13	AF086303	rs72960926-A		2E-6		0.3084	unit increase	Illumina [5767231] (imputed)	N
1164	chr6	75945749	75945750	rs116278466	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6q14.1	intergenic	rs116278466-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1166	chr6	76164588	76164589	rs12209223	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q14.1	FILIP1	rs12209223-A	0.116	5E-25		0.051	[0.041-0.061] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1166	chr6	76265641	76265642	rs9360921	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q14.1	SENP6	rs9360921-T	0.89	3E-13		0.042	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1168	chr6	76495881	76495882	rs9443189	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	6q14.1	MYO6	rs9443189-G	0.14	4E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1169	chr6	76556618	76556619	rs3798440	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	6q14.1	MYO6	rs3798440-?,rs9350602-?	(AC)	3E-10				Affymetrix [405022]	N
1169	chr6	76560497	76560498	rs9350602	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	6q14.1	MYO6	rs3798440-?,rs9350602-?	(AC)	3E-10				Affymetrix [405022]	N
1173	chr6	77168085	77168086	rs9447700	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q14.1	IMPG1	rs9447700-C	0.69	6E-9		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1174	chr6	77266187	77266188	rs4235898	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	6q14.1	LOC100131680	rs4235898-A	0.74	1E-6	(Allelic model)	1.718	[1.377-2.142]	Illumina [733202]	N
1174	chr6	77290798	77290799	rs12198063	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	6q14.1	LOC643281	rs12198063-?	NR	8E-6				NR [~ 2000000]	N
1178	chr6	77789807	77789808	rs7738636	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	6q14.1	intergenic	rs7738636-A	0.76	6E-6		1.2658228	[1.15-1.41]	Affymetrix [355750]	N
1180	chr6	78098652	78098653	rs1936166	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6q14.1	NR	rs1936166-?	NR	9E-7				Affymetrix [5486770] (imputed)	N
1191	chr6	79556165	79556166	rs16890334	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	6q14.1	IRAK1BP1	rs16890334-C	0.06	2E-7	(SBP, during intervention)	4.32	[2.67-5.97] mmHg decrease	Affymetrix [2216774] (imputed)	N
1191	chr6	79556165	79556166	rs16890334	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	6q14.1	IRAK1BP1	rs16890334-C	0.06	4E-9	(SBP, during intervention)	5.43	[3.63-7.23] mmHg decrease	Affymetrix [2216774] (imputed)	N
1191	chr6	79556165	79556166	rs16890334	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	6q14.1	IRAK1BP1	rs16890334-C	0.06	2E-6	(MAP, during intervention)	3.39	[1.98-4.80] mmHg decrease	Affymetrix [2216774] (imputed)	N
1191	chr6	79556165	79556166	rs16890334	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	6q14.1	IRAK1BP1	rs16890334-C	0.06	5E-7	(MAP, during intervention)	3.2	[1.95-4.45] mmHg decrease	Affymetrix [2216774] (imputed)	N
1191	chr6	79556165	79556166	rs16890334	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	6q14.1	IRAK1BP1	rs16890334-C	0.06	1E-10	(SBP, during intervention)	5.38	[3.73-7.03] mmHg decrease	Affymetrix [2216774] (imputed)	N
1196	chr6	80113594	80113595	rs196670	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6q14.1	NR	rs196670-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1196	chr6	80147186	80147187	rs196701	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	6q14.1	HMGN3, LCA5	rs196701-?		1E-6	(SI)	0.35	[0.15-0.55] unit decrease	Illumina [693128]	N
1196	chr6	80156258	80156259	rs12204683	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	6q14.1	LCA5	rs12204683-?	0.2378	7E-6	(ACL)	1.877	[NR]	Affymetrix [906600]	N
1197	chr6	80257280	80257281	rs3747767	21302353	Perroud N	2010-12-28	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of hoarding traits.	Hoarding	3,304 European ancestry individuals	NA	6q14.1	LCA5	rs3747767-A	0.03	7E-7		1.81	[NR] unit increase	Illumina [1517033] (imputed)	N
1197	chr6	80322280	80322281	rs6917843	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	6q14.1	SH3BGRL2	rs6917843-A	NR	4E-6		4.621	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1198	chr6	80410955	80410956	rs2295015	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	6q14.1	SH3BGRL2	rs2295015-A	0.96	5E-6		0.07	[0.05-0.09] unit decrease	Illumina [1632371] (imputed)	N
1198	chr6	80466123	80466124	rs6925255	22773346	Edwards DR	2012-07-07	Age (Dordr)	Linkage and association of successful aging to the 6q25 region in large Amish kindreds.	Aging	263 Amish individuals aged 80 years or older	NA	6q14.1	SH3BGRL2, ELOVL4	rs6925255-?	0.49	1E-6				Affymetrix [630309]	N
1199	chr6	80533186	80533187	rs1321847	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	6q14.1	ELOVL4	rs1321847-A	0.09	2E-6		0.07	[0.041-0.099] unit increase	Affymetrix, Illumina [557887] (imputed)	N
1199	chr6	80564835	80564836	rs346291	20522523	Kasperaviciute D	2010-06-03	Brain	Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.	Partial epilepsies	Up to 3,445 European ancestry cases, 6,935 European ancestry controls	NA	6q14.1	AL132875.2, SH3BGRL2, ELOVL4	rs346291-?	0.634	3E-7		1.2	[1.12-1.30]	Illumina [528745]	N
1200	chr6	80709828	80709829	rs9352788	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	6q14.1	NR	rs9352788-T	0.863	7E-7	(EA)	0.082	[0.049-0.115] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1201	chr6	80845988	80845989	rs2322633	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6q14.1	BCKDHB	rs2322633-T	0.5	3E-9		1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1202	chr6	80880137	80880138	rs6931421	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	6q14.1	BCKDHB	rs6931421-T	0.678	1E-8	(EA)	0.059	[0.039-0.079] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1202	chr6	80953256	80953257	rs9341808	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	6q14.1	NR	rs9341808-C	0.522	2E-6	(EA)	0.046	[0.026-0.066] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1202	chr6	80956207	80956208	rs648831	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q14.1	BCKDHB	rs648831-T	0.503	3E-26		0.031	[0.025-0.037] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1203	chr6	81069149	81069150	rs10943703	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	6q14.1	NR	rs10943703-A	0.606	2E-7	(EA)	0.055	[0.033-0.077] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1205	chr6	81302804	81302805	rs10943724	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	6q14.1	BCKDHB	rs10943724-A	0.31	7E-6	(EA-triglyceride response)	19.77	[11.15-28.39] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1206	chr6	81481353	81481354	rs6902257	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q14.1	LOC442232	rs6902257-A	0.015	7E-6	(Fat mass deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1206	chr6	81481782	81481783	rs9352866	25758998	Rubicz R	2015-03-11	Eur J Hum Genet	Genome-wide genetic investigation of serological measures of common infections.	Antibody level in response to infection	1,932 Mexican-American individuals	NA	6q14.1	FAM46A	rs9352866-T	0.397	2E-7	(Human herpesvirus 8)	0.17	[NR] unit decrease	Illumina [944565]	N
1209	chr6	81792062	81792063	rs310421	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q14.1	FAM46A	rs310421-T	0.537	3E-27		0.032	[0.026-0.038] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1209	chr6	81800361	81800362	rs310405	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6q14.1	FAM46A	rs310405-A	0.52	1E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1209	chr6	81800361	81800362	rs310405	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q14.1	FAM46A	rs310405-A	0.52	2E-13		0.026	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1212	chr6	82193108	82193109	rs17530068	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	6q14.1	intergenic	rs17530068-C	0.237	3E-6		1.09	[1.05-1.13]	Illumina [NR]	N
1212	chr6	82193108	82193109	rs17530068	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	6q14.1	intergenic	rs17530068-G	0.22	8E-9		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1212	chr6	82193108	82193109	rs17530068	22976474	Siddiq A	2012-09-13	Hum Mol Genet	A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.	Breast cancer	3,666 European ancestry cases, 28,864 European ancestry controls, 1,004 African American cases, 2,744 African American controls	562 European ancestry cases, 6,410 European ancestry controls, 84 Japanese ancestry cases, 830 Japanese ancestry controls, 300 Latino cases, 1,164 Latino controls	6q14.1	FAM46A, C6orf37	rs17530068-C	0.24	3E-7		1.16	[1.10-1.23]	Illumina [2608509] (imputed)	N
1212	chr6	82220551	82220552	rs6924906	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	6q14.1	FAM46A, C6orf37	rs6924906-T	0.71	6E-7	(DBP)	0.51	[0.31-0.71] unit decrease	Affymetrix, Illumina [~ 2420000] (imputed)	N
1214	chr6	82515314	82515315	rs16893526	21606135	Wild PS	2011-05-23	Circ Cardiovasc Genet	A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.	Coronary heart disease	2,078 European ancestry cases, 2,953 European ancestry controls	19,350 European ancestry cases, 35,408 European ancestry controls	6q14.1	intergenic	rs16893526-G	0.91	5E-6		1.13	[1.07-1.21]	Affymetrix [608247]	N
1216	chr6	82794593	82794594	rs1538138	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	6q14.1	IBTK, FAM46A	rs1538138-T	0.25	1E-12		0.07	[0.031-0.109] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1224	chr6	83789797	83789798	rs4470825	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q14.1	NR	rs4470825-G	NR	3E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1227	chr6	84173027	84173028	rs12195417	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q14.2	NR	rs12195417-C	NR	5E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1227	chr6	84226594	84226595	rs1171113	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	6q14.2	SNAP91, PRSS35	rs1171113-C	NR	1E-7		1.23	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1227	chr6	84234143	84234144	rs3812141	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	6q14.2	PRSS35	rs3812141-?	NR	8E-7	(Additive model)	0.5	unit decrease	Illumina [542562]	N
1228	chr6	84325183	84325184	rs12193281	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	6q14.2	SNAP91	rs12193281-?	NR	4E-6	(SCL)	0.055	[0.031-0.079] unit increase	Illumina [527829]	N
1228	chr6	84328659	84328660	rs3798869	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q14.2	NR	rs3798869-G	NR	9E-10		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1234	chr6	85178267	85178268	rs9362054	25364816	Awata T	2014-11-03	PLoS One	A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA.	Diabetic retinopathy in type 2 diabetes	205 Japanese ancestry cases, 241 Japanese ancestry controls	632 Japanese ancestry cases, 908 Japanese ancestry controls	6q14.3	CEP162, TBX18, RP1-90L14.1, KIAA1009, RP11-132M7.1	rs9362054-T	0.291	1E-6		1.4	[NR]	Affymetrix [614216]	N
1242	chr6	86117128	86117129	rs494562	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6q14.3	NT5E	rs494562-A	0.9	1E-12	(inosine)	0.118	[0.085-0.151] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1242	chr6	86117128	86117129	rs494562	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	6q14.3	NT5E	rs494562-G	0.106	7E-13	(inosine + 1 other trait)	0.302	[NR] unit increase	Affymetrix, Illumina [534665]	N
1246	chr6	86691939	86691940	rs1577917	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	6q14.3	intergenic	rs1577917-?	0.21	3E-6	(clozapine-triglycerides)			Affymetrix [492900]	N
1249	chr6	87155253	87155254	rs13202860	22509378	Burri A	2012-04-11	PLoS One	A genome-wide association study of female sexual dysfunction.	Sexual dysfunction (female)	1,104 European ancestry twins	NA	6q14.3	intergenic	rs13202860-A	NR	1E-7	(Arousal)	0.421	[0.26-0.58] unit decrease	Illumina [2287762] (imputed)	N
1251	chr6	87347804	87347805	rs9351104	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6q14.3	intergenic	rs9351104-?		4E-6	(PC2)	0.0565	[NR] unit increase	Illumina [4167292] (imputed)	N
1252	chr6	87466491	87466492	rs493187	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	6q14.3	NR	rs493187-?	NR	3E-6		1.2298	[NR]	Affymetrix [722112]	N
1253	chr6	87606841	87606842	rs1853639	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q14.3	NR	rs1853639-G	0.359453092898615	8E-6	(IGP21)	0.1761	[0.099-0.254] unit decrease	Illumina [~ 2500000] (imputed)	N
1255	chr6	87854340	87854341	rs9362395	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q14.3	NR	rs9362395-T	NR	7E-7		1.12	[NR]	Illumina [7158791] (imputed)	N
1255	chr6	87867062	87867063	rs1925690	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Entorhinal cortical volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	6q14.3	ZNF292	rs1925690-?	NR	3E-8		3.0E-4	[NR] unit increase	Illumina [478011]	N
1256	chr6	88032389	88032390	rs7341237	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6q15	NR	rs7341237-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1258	chr6	88329941	88329942	rs13213285	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q15	ORC3, SLC35A1, RARS2	rs13213285-A	0.034	4E-6	(Fat mass deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1259	chr6	88377048	88377049	rs28381552	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q15	ORC3, SLC35A1, RARS2	rs28381552-G	0.025	4E-6	(Fat mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
1261	chr6	88652579	88652580	rs2509458	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Blood pressure	Up to 1,327 individuals	NA	6q15	intergenic	rs2509458-?	NR	7E-6	(DBP)			Affymetrix [70897]	N
1261	chr6	88717765	88717766	rs366676	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Echocardiographic traits	Up to 1,238 European ancestry individuals	NA	6q15	SPACA1	rs366676-?	NR	2E-6	(LVFS)			Affymetrix [70897]	N
1263	chr6	88883323	88883324	rs9450906	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6q15	NR	rs9450906-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
1263	chr6	88975976	88975977	rs16880441	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	6q15	intergenic	rs16880441-G	0.08	9E-6	(int, MC)	1.63	[NR] unit increase	Perlegen [429901]	N
1264	chr6	89112816	89112817	rs10485165	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	6q15	intergenic	rs10485165-?	NR	1E-6	(VitD25OH)			Affymetrix [70897]	N
1265	chr6	89183579	89183580	rs11757661	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6q15	RNGTT	rs11757661-A	0.04	8E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1265	chr6	89253648	89253649	rs2610739	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q15	NR	rs2610739-G	0.187486864203028	4E-6	(IGP65)	0.1852	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1266	chr6	89293744	89293745	rs12527253	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	6q15	RNGTT, ACTBP8, LOC644119	rs12527253-G	0.34	1E-6	(LDL, sum)			Illumina [~ 2500000] (imputed)	N
1269	chr6	89732100	89732101	rs12201676	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	6q15	GABRR1	rs12201676-?	NR	4E-8		1.3139	[NR]	Affymetrix [722112]	N
1270	chr6	89879167	89879168	rs7775554	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6q15	PM20D2	rs7775554-A	0.53	1E-15	(X-12244--N-acetylcarnosine)	0.019	[0.015-0.023] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1273	chr6	90299209	90299210	rs6939321	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	6q15	ANKRD6	rs6939321-C		4E-6		0.16	[0.09-0.23] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1273	chr6	90307984	90307985	rs9359856	25827505	Swaminathan S	2015-03-14	J Affect Disord	Characteristics of Bipolar I patients grouped by externalizing disorders.	Bipolar disorder	472 non-externalizing cases, 796 externalizing cases	436 non-externalizing European ancestry cases, 801 externalizing European ancestry cases	6q15	ANKRD6	rs9359856-?		5E-6	(early-onset vs. non-externalizing)	1.6417665	[NR]	Affymetrix [677171]	N
1274	chr6	90310965	90310966	rs6454764	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	6q15	ANKRD6	rs6454764-T	0.06	5E-6	(vWF levels)	0.31	[0.17-0.45] IU/dL increase	Illumina [442728]	N
1276	chr6	90640490	90640491	rs2289577	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6q15	BACH2	rs2289577-?	NR	9E-6	(Animals)			Illumina [up to 563855]	N
1276	chr6	90657782	90657783	rs404256	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q15	BACH2	rs404256-C	0.559129675122385	7E-9	(IGP7)	0.2094	[0.14-0.28] unit decrease	Illumina [~ 2500000] (imputed)	N
1276	chr6	90657782	90657783	rs404256	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q15	BACH2	rs404256-C	0.55888563217352	5E-6	(IGP44)	0.1659	[0.095-0.237] unit increase	Illumina [~ 2500000] (imputed)	N
1276	chr6	90681465	90681466	rs6917758	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q15	BACH2	rs6917758-C	0.145	3E-6	(BMR )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1276	chr6	90698273	90698274	rs12204127	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6q15	BACH2	rs12204127-T	0.20	6E-7	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1278	chr6	90880034	90880035	rs2474619	24999842	Garner C	2014-07-07	PLoS One	Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.	Celiac disease	1,550 European ancestry cases, 3,084 European ancestry controls	NA	6q15	BACH2	rs2474619-?	NR	2E-8		1.28	[1.18-1.41]	Illumina [517345]	N
1278	chr6	90880392	90880393	rs10944479	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6q15	BACH2	rs10944479-A	0.16	4E-8		1.25	[1.14-1.37]	Affymetrix, Illumina [up to 3437411] (imputed)	N
1278	chr6	90921739	90921740	rs370409	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6q15	MAP3K7, BACH2	rs370409-T	0.67	2E-6		1.15	[1.09-1.22]	Illumina [486049]	N
1278	chr6	90926611	90926612	rs10806425	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6q15	MAP3K7, BACH2	rs10806425-A	0.40	4E-10		1.13	[1.09-1.17]	Illumina [292387]	N
1278	chr6	90957462	90957463	rs3757247	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	6q15	BACH2	rs3757247-A	0.47	3E-8		1.2	[NR]	Illumina [495821]	N
1278	chr6	90957462	90957463	rs3757247	18840781	Grant SF	2008-10-07	Diabetes	Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.	Type 1 diabetes	563 European ancestry cases, 1,146 European ancestry controls, 483 European ancestry trios	3,303 European ancestry cases, 4,673 European ancestry controls	6q15	BACH2	rs3757247-A	NR	1E-6		1.13	[1.08-1.19]	Illumina [up to 1000000]	N
1278	chr6	90958230	90958231	rs11755527	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	6q15	BACH2	rs11755527-G	NR	3E-8	(T1D)	1.1	[NR]	Affymetrix, Illumina [NR]	N
1278	chr6	90958230	90958231	rs11755527	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	6q15	BACH2	rs11755527-?	NR	5E-8				Affymetrix, Illumina [841622] (imputed)	N
1278	chr6	90958230	90958231	rs11755527	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	6q15	BACH2	rs11755527-G	0.47	5E-12		1.13	[1.08-1.19]	Affymetrix [up to 335565]	N
1279	chr6	90973158	90973159	rs1847472	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q15	NR	rs1847472-C	0.66	7E-10	(EA)	1.0695955		Affymetrix, Illumina [~ 9000000] (imputed)	N
1279	chr6	90973158	90973159	rs1847472	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q15	NR	rs1847472-A	0.66	1E-10	(EA)	1.0891367		Affymetrix, Illumina [~ 9000000] (imputed)	N
1279	chr6	90973158	90973159	rs1847472	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	6q15	intergenic	rs1847472-C	0.655	2E-10		1.06	[1.029-1.092]	Affymetrix, Illumina [1230000] (imputed)	N
1279	chr6	90973158	90973159	rs1847472	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6q15	BACH2	rs1847472-G	0.658	5E-9		1.07	[1.03-1.11]	Affymetrix, Illumina [953241] (imputed)	N
1279	chr6	90996768	90996769	rs12212193	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	6q15	BACH2	rs12212193-G	NR	4E-8		1.09	[1.08-1.1]	Illumina [465434]	N
1279	chr6	91015038	91015039	rs12529935	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6q15	BACH2	rs12529935-C	0.91	9E-6		1.3514		Illumina [2100739] (imputed)	N
1280	chr6	91207350	91207351	rs806276	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	6q15	intergenic	rs806276-A	NR	3E-7	(later onset)			Perlegen [429981]	N
1282	chr6	91417751	91417752	rs713155	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	6q15	intergenic	rs713155-?	0.40	5E-7				Illumina [448293]	N
1285	chr6	91845406	91845407	rs4424056	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	6q15	MAP3K7	rs4424056-?		5E-7				Illumina [859311]	N
1286	chr6	91956662	91956663	rs2811670	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	6q15	MAP3K7	rs2811670-?		7E-6		0.053	[NR] unit increase	Illumina [430487]	N
1295	chr6	93148340	93148341	rs12190758	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q15	NR	rs12190758-G	NR	3E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1296	chr6	93197299	93197300	rs13207034	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	6q15	intergenic	rs13207034-A		1E-6		0.2425	unit decrease	Illumina [5767231] (imputed)	N
1296	chr6	93197299	93197300	rs13207034	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	6q15	intergenic	rs13207034-A	NR	4E-6		0.2275	unit decrease	Illumina [5767231] (imputed)	N
1297	chr6	93369654	93369655	rs6918777	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	6q16.1	intergenic	rs6918777-?	0.45	7E-6	(Meta)	1.1494	[1.08-1.22]	Illumina [254145]	N
1298	chr6	93522133	93522134	rs9445023	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	6q16.1	EPHA7	rs9445023-?	0.88	7E-7		1.32	[1.18-1.47]	Affymetrix [662108]	N
1299	chr6	93615449	93615450	rs2506933	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6q16.1	RP11-538A16.1	rs2506933-?	NR	6E-6	(Animals)			Illumina [up to 563855]	N
1299	chr6	93713804	93713805	rs652520	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6q16.1	RP1-23E21.2	rs652520-C	0.48	2E-6	(CRP)			Illumina [588352]	N
1301	chr6	93847883	93847884	rs594442	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	6q16.1	EPHA7	rs594442-?	0.05	1E-6		1.99	[1.50-2.64]	Affymetrix [832357]	N
1301	chr6	93852251	93852252	rs1408282	21647738	Wu Y	2011-06-07	Inflammation	Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.	C-reactive protein	1,709 Filipino ancestry female individuals	NA	6q16.1	NR	rs1408282-A	0.10	1E-6		0.412	[0.24-0.58] unit increase	Affymetrix [2073674] (imputed)	N
1301	chr6	93911118	93911119	rs12527818	22095909	Lange CM	2011-11-16	Hepatology	Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	707 European ancestry cases	NA	6q16.1	EPHA7	rs12527818-T	NR	7E-6		0.274	[0.15-0.39] ug/L increase	NR [NR]	N
1302	chr6	94008534	94008535	rs9363058	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	6q16.1	EPHA7	rs9363058-?		8E-6				Affymetrix, Illumina [1348798]	N
1302	chr6	94083122	94083123	rs351328	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6q16.1	EPHA7, COPS5P, TSG1	rs351328-A	0.079	7E-6		2.7	[1.73-4.23]	Illumina [1556551]	N
1305	chr6	94489218	94489219	rs9345396	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	6q16.1	TSG1	rs9345396-T	0.01	1E-7	(cohort study)	5.78	[3.03-11.02]	Affymetrix, Illumina [up to 2600000] (imputed)	N
1305	chr6	94489218	94489219	rs9345396	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	6q16.1	TSG1	rs9345396-T	0.01	1E-7		1.75	[1.1-2.4] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
1310	chr6	95156417	95156418	rs2224003	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		6q16.1	intergenic	rs2224003-?	NR	1E-9	(Strength - R-pars opercularis)			Illumina [428287]	N
1310	chr6	95156453	95156454	rs10485022	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		6q16.1	intergenic	rs10485022-?	NR	5E-9	(Strength - R-pars opercularis)			Illumina [428287]	N
1311	chr6	95211551	95211552	rs222548	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	6q16.1	NR	rs222548-T	NR	6E-6		0.6	[0.35-0.85] unit decrease	NR [5896100] (imputed)	N
1313	chr6	95422617	95422618	rs4145130	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	6q16.1	intergenic	rs4145130-A	0.06	1E-7			[NR]	Affymetrix [398699]	N
1317	chr6	95967411	95967412	rs2380220	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	6q16.1	intergenic	rs2380220-A	0.159	4E-6	(Alcohol dependence)			Illumina [527829]	N
1318	chr6	96179003	96179004	rs143247165	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	6q16.1	NR	rs143247165-A	0.006	8E-6		0.713	[0.4-1.03] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1320	chr6	96346574	96346575	rs117488988	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q16.1	NR	rs117488988-A	NR	5E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
1320	chr6	96376697	96376698	rs608114	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	6q16.1	NR	rs608114-A	NR	3E-7	(phenotype 1)	4.84	[NR]	Illumina [> 8000000] (imputed)	N
1320	chr6	96376697	96376698	rs608114	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	6q16.1	NR	rs608114-A	NR	3E-7	(phenotype 3)	4.84	[NR]	Illumina [> 8000000] (imputed)	N
1320	chr6	96459650	96459651	rs117074560	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q16.1	NR	rs117074560-C	NR	5E-9		1.1764705	[NR]	Illumina [7158791] (imputed)	N
1320	chr6	96459650	96459651	rs117074560	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	6q16.1	FUT9	rs117074560-C	0.9524	2E-9		1.1778563	[1.12-1.24]	Affymetrix, Illumina [9005918] (imputed)	N
1324	chr6	96884885	96884886	rs11757063	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	6q16.1	FHL5	rs11757063-A	0.21	6E-8		1.2	[1.12-1.28]	Illumina [1246388] (imputed)	N
1325	chr6	97065211	97065212	rs11759769	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6q16.1	FHL5	rs11759769-A	0.22	2E-12		1.18	[1.13-1.24]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1325	chr6	97065211	97065212	rs11759769	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	6q16.1	FHL5	rs11759769-A	0.22	4E-7		1.16	[1.09-1.23]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1325	chr6	97065211	97065212	rs11759769	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	6q16.1	FHL5	rs11759769-A	0.22	1E-11		1.1	[1.07-1.13]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1325	chr6	97080197	97080198	rs12200560	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	6q16.1	FHL5	rs12200560-?	NR	6E-7		1.11	[NR]	Affymetrix [~ 5000000] (imputed)	N
1328	chr6	97419597	97419598	rs974417	23583978	Monda KL	2013-04-14	Nat Genet	A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.	Body mass index	37,956 African American individuals, 1,188 Nigerian ancestry individuals	27,661 African America/Afro-Caribbean individuals, 4,607 Sub-Saharan African ancestry individuals, 123,706 European ancestry inidividuals	6q16.1	KLHL32	rs974417-C	0.85	6E-6		0.0049	[-0.00784-0.01764] unit increase	Affymetrix, Illumina [3283202] (imputed)	N
1328	chr6	97500046	97500047	rs12195230	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	6q16.1	KLHL32	rs12195230-G	0.75	5E-7	(EA, SBP, Age 20-29)	1.79	[1.1-2.48] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1332	chr6	97922183	97922184	rs200810	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q16.1	MMS22L	rs200810-T	0.626	7E-6	(EA)	0.014	[0.008-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1332	chr6	97922183	97922184	rs200810	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q16.1	MMS22L	rs200810-T	0.624	5E-6		0.014	[0.0078-0.0196] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1332	chr6	98019079	98019080	rs9320598	23785401	Leone MA	2013-06-13	PLoS One	Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients.	Multiple sclerosis (OCB status)	49 European ancestry OCB negative cases, 513 European ancestry OCB positive cases	200 European ancestry OCB negative cases, 1684 European ancestry OCB positive cases	6q16.1	MMS22L, KLHL32, C6orf167, KIAA1900	rs9320598-?	0.951	9E-7		2.17	[NR]	Illumina [504967]	N
1335	chr6	98358574	98358575	rs6924808	25601762	Wang Y	2015-01-20	Pharmacogenomics J	Pharmacodynamic genome-wide association study identifies new responsive loci for glucocorticoid intervention in asthma.	Response to inhaled glucocorticoid treatment in asthma (percentage change of FEV1)	120 individuals	410 individuals	6q16.1	NR	rs6924808-?		7E-16				Affymetrix [266944]	N
1336	chr6	98462500	98462501	rs12529874	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		6q16.1	C6orf167	rs12529874-A	NR	3E-7		0.4799	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1336	chr6	98495951	98495952	rs2505059	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)	184 Japanese ancestry cases, 459 Japanese ancestry controls	NA	6q16.1	MIR2113	rs2505059-G	0.398	5E-6	(Allelic model)	1.765	[1.383-2.252]	Illumina [733202]	N
1336	chr6	98553893	98553894	rs1487441	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	6q16.1	POU3F2	rs1487441-A	0.473	2E-9		0.026	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1337	chr6	98572119	98572120	rs10457441	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	6q16.1	intergenic	rs10457441-?	NR	4E-9		0.0324	[0.022-0.043] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
1337	chr6	98576222	98576223	rs12202969	24618891	Muhleisen	2014-03-11	Nat Commun	Genome-wide association study reveals two new risk loci for bipolar disorder.	Bipolar disorder	9,747 European ancestry cases, 14,278 European ancestry controls	NA	6q16.1	POU3F2, MIR2113	rs12202969-A	NR	1E-8		1.12	[NR]	Illumina [2267487] (imputed)	N
1337	chr6	98584732	98584733	rs9320913	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 101,069 European ancestry individuals	25,490 European ancestry individuals	6q16.1	LOC100129158	rs9320913-A	0.483	4E-10	(Edu Years)	0.101	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)	N
1337	chr6	98588753	98588754	rs9375225	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	6q16.1	POU3F2	rs9375225-T	0.48	6E-6	(Tri-Tetra/cyclic antidepressants)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1338	chr6	98739773	98739774	rs6909430	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	6q16.1	intergenic	rs6909430-G	0.08	8E-6	(TSH)	0.49	[NR] mIU/L decrease	Affymetrix [408775]	N
1339	chr6	98896666	98896667	rs9321063	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	6q16.1	LOC100129158	rs9321063-A		2E-6		0.07	[0.04-0.10] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1339	chr6	98919263	98919264	rs9491640	19023125	Potkin SG	2008-11-20	Schizophr Bull	A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.	Brain imaging in schizophrenia (interaction)	46 European ancestry cases, 60 European ancestry controls, 18 cases, 14 controls	NA	6q16.1	POU3F2	rs9491640-?	0.06	9E-6				Illumina [302783]	N
1339	chr6	98937145	98937146	rs2213553	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	6q16.1	intergenic	rs2213553-?	NR	5E-6	(SF9)			Affymetrix [5476100] (imputed)	N
1340	chr6	98990488	98990489	rs6904416	22788528	Kong M	2012-07-13	Int J Immunogenet	Genetic associations with C-reactive protein level and white blood cell count in the KARE study.	C-reactive protein and white blood cell count	8,722 individuals	NA	6q16.1	intergenic	rs6904416-C	0.019	9E-10	(CRP)	0.183	[NR] mg/dl increase	Affymetrix [1701735] (imputed)	N
1340	chr6	99011500	99011501	rs2086512	21993531	Kuparinen T	2011-10-13	Genes Immun	Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.	Cytomegalovirus antibody response	1,485 European ancestry sero-postitive individuals, 648 European ancestry sero-negative individuals	NA	6q16.1	intergenic	rs2086512-A	0.06	9E-6		0.324	[0.18-0.47] unit increase	Illumina [546677]	N
1340	chr6	99028865	99028866	rs1383808	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q16.1	POU3F2	rs1383808-G	0.0080	9E-6	(Arm span )	0.03	[NR] cm increase	Illumina [899892]	N
1345	chr6	99672013	99672014	rs2132683	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	6q16.2	intergenic	rs2132683-?	0.33	1E-6				Illumina [448293]	N
1346	chr6	99782878	99782879	rs17059400	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	6q16.2	NR	rs17059400-C	0.065	2E-6		18.365	[NR] unit increase	Illumina [527829]	N
1347	chr6	99989233	99989234	rs62432346	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	6q16.2	NR	rs62432346-A	NR	5E-6	(phenotype 1)	4.6	[NR]	Illumina [> 8000000] (imputed)	N
1347	chr6	99989233	99989234	rs62432346	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	6q16.2	NR	rs62432346-A	NR	5E-6	(phenotype 3)	4.6	[NR]	Illumina [> 8000000] (imputed)	N
1348	chr6	100104288	100104289	rs528808	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6q16.2	intergenic	rs528808-?		6E-6	(PC1)	0.1179	[NR] unit increase	Illumina [4167292] (imputed)	N
1348	chr6	100116091	100116092	rs9321659	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q16.2	SIM1, MCHR2	rs9321659-A	0.13	3E-16		0.06	[0.044-0.076] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1349	chr6	100208437	100208438	rs4840086	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q16.2	SIM1, MCHR2	rs4840086-A	0.58	9E-14		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1349	chr6	100208437	100208438	rs4840086	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	6q16.2	MCHR2, PRDM13	rs4840086-G	0.42	2E-8		2.1	[1.32-2.88] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1350	chr6	100328197	100328198	rs4840097	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (smoking status interaction)	548 European ancestry ever smoking cases, 278 European ancestry ever smoking controls, 346 European ancestry never smoking cases, 247 European ancestry never smoking controls	NA	6q16.2	intergenic	rs4840097-G	0.31	5E-7				Affymetrix [2543887] (imputed)	N
1351	chr6	100505347	100505348	rs12209443	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6q16.3	NR	rs12209443-?	NR	6E-6	(Native Hawaiian)	0.6219	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1353	chr6	100756686	100756687	rs2841307	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	6q16.3	NR	rs2841307-?	NR	1E-6		1.3621	[NR]	Affymetrix [722112]	N
1353	chr6	100760169	100760170	rs13196561	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q16.3	SIM1, MCHR2	rs13196561-C	0.78	8E-12		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1355	chr6	100957343	100957344	rs240768	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	6q16.3	ASCC3	rs240768-T	NR	2E-6		0.267	[0.16-0.38] unit increase	Illumina [628922]	N
1356	chr6	101134076	101134077	rs239198	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q16.3	SIM1, ASCC3	rs239198-T	0.46	3E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1358	chr6	101395406	101395407	rs11969893	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	6q16.3	intergenic	rs11969893-G	NR	4E-6		0.324	[0.19-0.46] unit increase	Illumina [628922]	N
1360	chr6	101674289	101674290	rs2797369	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	6q16.3	GRIK2	rs2797369-T	0.66	1E-7		0.0042	[0.0026-0.0058] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
1365	chr6	102355866	102355867	rs12207601	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	6q16.3	GRIK2	rs12207601-G	0.16	2E-6	(fibrinogen)	0.26	[0.15-0.37] g/L decrease	Illumina [316730]	N
1369	chr6	102886642	102886643	rs1416280	25199915	Broer L	2014-09-08	J Gerontol A Biol Sci Med Sci	GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.	Longevity (90 years and older)	6,036 European ancestry cases, 3,757 European ancestry controls	NA	6q16.3	GRIK2	rs1416280-C	0.75	5E-8		1.24	1.15-1.34	Affymetrix, Illumina [2500000] (imputed)	N
1370	chr6	102971245	102971246	rs17430337	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q16.3	GRIK2	rs17430337-A	0.015	5E-6	(NEFA )	0.02	[NR] mmol/L increase	Illumina [899892]	N
1373	chr6	103286481	103286482	rs72971709	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6q16.3	GRIK2	rs72971709-A	NR	3E-7	(%LAA-950, Cases)	0.38	[-0.2276-0.9876] unit increase	Illumina [7600000] (imputed)	N
1376	chr6	103799045	103799046	rs994988	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		6q16.3	GRIK2	rs994988-T	NR	2E-7		0.1395	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1377	chr6	103810002	103810003	rs79423885	25533491	Rautanen A	2014-12-18	Lancet Respir Med	Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study.	Sepsis from pneumonia (survival)	359 European ancestry non-survivor cases, 1,194 European ancestry survivor cases	106 European ancestry non-survivor cases, 432 European ancestry survivor cases	6q16.3	intergenic	rs79423885-?	NR	2E-6		1.89	[NR]	Affymetrix, Illumina [5888277] (imputed)	N
1381	chr6	104432164	104432165	rs4520040	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6q16.3	GRIK2	rs4520040-?	NR	3E-6	(additive)			Affymetrix [361034]	N
1381	chr6	104445366	104445367	rs9499708	22889921	Stewart SE	2012-08-14	Mol Psychiatry	Genome-wide association study of obsessive-compulsive disorder.	Obsessive-compulsive disorder	1,279 European ancestry cases, 5,139 European ancestry controls, 299 European ancestry trios, 93 South African Afrikaner ancestry cases, 158  South African Afrikaner ancestry controls, 93 Ashkenazi Jewish cases, 260 Ashkenazi Jewish controls, 101 Hispanic and unknown ancestry trios	NA	6q16.3	GRIK2, HACE1	rs9499708-?	NR	3E-6		1.2	NR	Illumina [479067]	N
1382	chr6	104501197	104501198	rs859980	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	6q16.3	LOC100129694	rs859980-C	0.53	7E-6		1.15	[NR]	Illumina [7659573] (imputed)	N
1382	chr6	104593866	104593867	rs9377619	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	6q16.3	NR	rs9377619-?	NR	2E-6		1.3421	[NR]	Affymetrix [722112]	N
1383	chr6	104663777	104663778	rs2744203	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q16.3	NR	rs2744203-C	0.0959963838018742	7E-6	(IGP39)	0.2327	[0.13-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
1383	chr6	104678831	104678832	rs71568191	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	6q16.3	HACE1	rs71568191-A	0.01	3E-9		8.9	[NR]	Affymetrix [4893794] (imputed)	N
1387	chr6	105180784	105180785	rs4336470	22941191	Diskin SJ	2012-09-02	Nat Genet	Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.	Neuroblastoma	2,101 European ancestry cases, 4,202 European ancestry controls	351 European ancestry cases, 780 European ancestry controls, 365 African American cases, 2,491 African American controls	6q16.3	HACE1	rs4336470-C	0.65	3E-11		1.26	[1.18-1.35]	Illumina [426697]	N
1387	chr6	105223863	105223864	rs733724	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		6q16.3	HACE1	rs733724-?		3E-7	(Cluxel size)			Illumina [208975]	N
1387	chr6	105232232	105232233	rs9322817	17903292	Hwang SJ	2007-09-19	BMC Med Genet	A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.	Thyroid stimulating hormone	883 individuals	NA	6q16.3	HACE1	rs9322817-?	NR	7E-6				Affymetrix [70897]	N
1388	chr6	105348543	105348544	rs2153127	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q16.3	LIN28B	rs2153127-T	0.52	6E-59		0.08	[0.07-0.09] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1388	chr6	105364420	105364421	rs11156429	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6q16.3	LIN28B	rs11156429-G	0.55	2E-7	(Late pubertal growth, females)	0.11	[0.071-0.149] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1388	chr6	105367615	105367616	rs9391253	24770850	Cousminer DL	2014-04-25	Hum Mol Genet	Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.	Puberty onset (breast development)	6,147 European ancestry girls	NA	6q16.3	LIN28B	rs9391253-T	0.33	3E-7		0.088	[0.055-0.121] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1388	chr6	105367615	105367616	rs9391253	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6q16.3	LIN28B	rs9391253-T	0.32	5E-12		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1388	chr6	105378953	105378954	rs7759938	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6q16.3	LIN28B	rs7759938-T	0.56	5E-8		0.031	[0.017-0.045] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1388	chr6	105378953	105378954	rs7759938	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q16.3	LIN28B	rs7759938-C	0.32	8E-110		0.12	[0.11-0.13] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1388	chr6	105378953	105378954	rs7759938	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6q16.3	LIN28B	rs7759938-C	0.32	4E-9	(Late pubertal growth)	0.11	[0.079-0.141] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1388	chr6	105378953	105378954	rs7759938	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	6q16.3	LIN28B	rs7759938-C	0.32	5E-60		6.4	[5.62-7.18] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1388	chr6	105378953	105378954	rs7759938	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q16.3	LIN28B	rs7759938-T	0.68	8E-31		0.045	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1388	chr6	105378953	105378954	rs7759938	19448620	Perry JR	2009-05-17	Nat Genet	Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.	Menarche (age at onset)	17,510 European ancestry female individuals	NA	6q16.3	LIN28B	rs7759938-C	0.33	7E-9		0.09	[0.05-0.13] years increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1389	chr6	105392744	105392745	rs314263	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q16.3	LIN28B	rs314263-T	0.676	1E-42		0.043	[0.037-0.049] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1389	chr6	105400836	105400837	rs314280	19448622	Sulem P	2009-05-15	Nat Genet	Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.	Menarche (age at onset)	15,297 European ancestry female individuals	10,040 European ancestry female individuals	6q16.3	BVES, LIN28B, POPDC3, HACE1, E3 ubiquitin protein ligase 1	rs314280-T	0.48	2E-14		1.2	[0.9-1.5] months increase	Illumina [304226]	N
1389	chr6	105406273	105406274	rs17065417	22941191	Diskin SJ	2012-09-02	Nat Genet	Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.	Neuroblastoma	2,101 European ancestry cases, 4,202 European ancestry controls	351 European ancestry cases, 780 European ancestry controls, 365 African American cases, 2,491 African American controls	6q16.3	LIN28B	rs17065417-A	0.89	1E-8		1.38	[1.23-1.54]	Illumina [426697]	N
1389	chr6	105407661	105407662	rs314277	20303062	Medland SE	2010-03-18	Am J Hum Genet	A variant in LIN28B is associated with 2D:4D finger-length ratio, a putative retrospective biomarker of prenatal testosterone exposure.	Digit length ratio	2,889 European ancestry children and adolescents	3,659 European ancestry children	6q16.3	LIN28B	rs314277-A	0.15	2E-6		0.63	[0.41-0.85] mean 2D:4D increase	Illumina [310613]	N
1389	chr6	105407661	105407662	rs314277	19448621	He C	2009-05-17	Nat Genet	Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.	Menarche and menopause (age at onset)	17,438 European ancestry female individuals	NA	6q16.3	LIN28B	rs314277-A	0.14	3E-13	(age at menarche)	0.16	[0.12-0.20] years increase	Illumina [317759]	N
1389	chr6	105407661	105407662	rs314277	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	6q16.3	LIN28B	rs314277-A	0.13	1E-8		0.41	[0.26-0.59] cm increase	Affymetrix, Illumina [2260683] (imputed)	N
1389	chr6	105407998	105407999	rs314276	24770850	Cousminer DL	2014-04-25	Hum Mol Genet	Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.	Puberty onset	6,147 European ancestry girls, 3,769 European ancestry boys	Up to 1,376 European ancestry individuals	6q16.3	LIN28B	rs314276-C	0.66	2E-8		0.08	[0.053-0.107] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1389	chr6	105407998	105407999	rs314276	19448623	Ong KK	2009-05-17	Nat Genet	Genetic variation in LIN28B is associated with the timing of puberty.	Menarche (age at onset)	4,714 European ancestry female individuals	16,373 European ancestry female individuals	6q16.3	LIN28B	rs314276-C	0.67	4E-16		0.14	[0.11-0.17] year decrease	Affymetrix [up to 390631]	N
1389	chr6	105417977	105417978	rs314268	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6q16.3	BVES, LIN28B, POPDC3, HACE1	rs314268-C	0.34	8E-7		4.6	[2.84-6.36] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1389	chr6	105443188	105443189	rs364663	23667675	Tanikawa C	2013-05-07	PLoS One	Genome wide association study of age at menarche in the Japanese population.	Menarche (age at onset)	15,495 Japanese ancestry females	NA	6q16.3	LIN28B	rs364663-A	0.72	5E-7		0.089	[0.054-0.124] year decrease	Illumina [2310762] (imputed)	N
1389	chr6	105462003	105462004	rs314272	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q21	NR	rs314272-G	NR	10E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1390	chr6	105612219	105612220	rs11962089	21654844	Briggs FB	2011-06-09	Genes Immun	Genome-wide association study of severity in multiple sclerosis.	Multiple sclerosis	1,470 European ancestry cases	NA	6q21	POPDC3	rs11962089-G	0.16	8E-6	(Continuous)	0.69	[NR] unit decrease	Affymetrix [2110417] (imputed)	N
1394	chr6	106094056	106094057	rs9386463	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (time to first tooth eruption)	5,919 European ancestry related individuals	NA	6q21	intergenic	rs9386463-G	0.45	6E-7		0.38	[NR] % variance	Illumina [300766]	N
1395	chr6	106188817	106188818	rs6568401	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		6q21	NA	rs6568401-C	NR	2E-10		0.19	[0.13-0.25] unit decrease	Illumina [2446724] (imputed)	N
1395	chr6	106252998	106252999	rs1355023	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	6q21	intergenic	rs1355023-T	0.69	6E-6		1.13	[1.07-1.20]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1395	chr6	106260127	106260128	rs7750345	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	6q21	intergenic	rs7750345-A	0.75	7E-6	(EA)	1.16	[1.09-1.24]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1396	chr6	106329054	106329055	rs9386485	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)	218 Japanese ancestry cases, 364 Japanese controls	NA	6q21	PRDM1	rs9386485-T	0.477	1E-6	(Allelic model)	1.821	[1.429-2.32]	Illumina [733202]	N
1396	chr6	106329054	106329055	rs9386485	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	6q21	PRDM1	rs9386485-T	0.492	3E-6	(Allelic model)	1.524	[1.279-1.817]	Illumina [733202]	N
1397	chr6	106435024	106435025	rs6568421	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	6q21	intergenic	rs6568421-G	0.301	8E-20		1.108	[1.074-1.142]	Affymetrix, Illumina [1230000] (imputed)	N
1397	chr6	106435024	106435025	rs6568421	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6q21	PRDM1	rs6568421-G	0.301	4E-8		1.13	[1.07-1.18]	Affymetrix, Illumina [953241] (imputed)	N
1397	chr6	106435268	106435269	rs7746082	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q21	NR	rs7746082-C	0.2869	2E-7	(EA)	1.0753639	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1397	chr6	106435268	106435269	rs7746082	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q21	NR	rs7746082-C	0.2869	3E-23	(EA)	1.1415608	[1.12-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1397	chr6	106435268	106435269	rs7746082	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	6q21	Unknown	rs7746082-C	0.29	2E-10		1.17	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1397	chr6	106474748	106474749	rs4946717	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q21	NR	rs4946717-?	NR	4E-22	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1397	chr6	106522026	106522027	rs6911490	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6q21	PDRM1	rs6911490-T	0.21	1E-8		1.08	[1.03-1.13]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1398	chr6	106568033	106568034	rs548234	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	6q21	PRDM1, ATG5	rs548234-G	0.26	5E-12		1.25	[1.17-1.33]	Illumina [493955]	N
1398	chr6	106582919	106582920	rs742108	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6q21	PRDM1, ATG5	rs742108-T	0.34	4E-6		1.24		Illumina [2100739] (imputed)	N
1398	chr6	106667534	106667535	rs9372120	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q21	ATG5	rs9372120-G	0.2	4E-8	(EA)	1.1	[1.06-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1398	chr6	106667534	106667535	rs9372120	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q21	ATG5	rs9372120-G	0.16	8E-10		1.11	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1398	chr6	106685194	106685195	rs3827644	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	6q21	ATG5	rs3827644-?		5E-7		1.15	[NR]	Illumina [NR]	N
1399	chr6	106734407	106734408	rs484621	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	6q21	ATG5	rs484621-?		4E-6	(M)	18.89	[10.62-27.16] unit increase	Illumina [693128]	N
1400	chr6	106829536	106829537	rs6568433	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	6q21	AL109920.3	rs6568433-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1400	chr6	106899225	106899226	rs1417352	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	6q21	intergenic	rs1417352-?	NR	2E-6	(ANP6)			Affymetrix [70897]	N
1401	chr6	106987369	106987370	rs783396	17434096	Matarin M	2007-05-06	Lancet Neurol	A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.	Stroke	259 European ancestry cases, 269 European ancestry controls	NA	6q21	AIM1	rs783396-?	0.90	9E-6		2.17	[1.47-3.13]	Illumina [408803]	N
1404	chr6	107388503	107388504	rs3749872	26256467	Wojczynski MK	2015-07-03	Metabolism	Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).	Postprandial triglyceride response to high fat diet meal	872 European ancestry individuals	843 Old Order Amish individuals	6q21	BEND3	rs3749872-C	0.0451	4E-7	(Uptake slope)	0.5892	[0.36-0.82] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1404	chr6	107473217	107473218	rs9372149	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	6q21	PDSS2	rs9372149-A	0.32	1E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
1406	chr6	107660645	107660646	rs2430457	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q21	NR	rs2430457-G	0.00697800000000004	5E-6	(IGP31)	2.6041	[1.48-3.73] unit increase	Illumina [~ 2500000] (imputed)	N
1406	chr6	107672526	107672527	rs9486594	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	6q21	PDSS2	rs9486594-T	0.0872	1E-6	(O'Connor Slope)	0.058	[NR] unit increase	Illumina [546355]	N
1406	chr6	107672526	107672527	rs9486594	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	6q21	PDSS2	rs9486594-C	0.087	2E-6	(Continous PC20)	0.065	[NR] unit increase	Illumina [546355]	N
1407	chr6	107794472	107794473	rs7356941	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	6q21	intergenic	rs7356941-G	0.088	1E-6	(O'Connor Slope)	0.057	[NR] unit increase	Illumina [546355]	N
1407	chr6	107794472	107794473	rs7356941	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	6q21	intergenic	rs7356941-A	0.088	2E-6	(Continous PC20)	0.063	[NR] unit increase	Illumina [546355]	N
1409	chr6	108017670	108017671	rs12525668	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		6q21	intergenic	rs12525668-?	0.07	8E-11			[NR]	Affymetrix, Illumina [152234]	N
1411	chr6	108323758	108323759	rs17069122	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	6q21	NR	rs17069122-?	NR	1E-6		2.3265	[NR]	Affymetrix [722112]	N
1414	chr6	108762205	108762206	rs117914390	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6q21	NR	rs117914390-?	NR	4E-6	(Native Hawaiian)	1.2612	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1415	chr6	108853492	108853493	rs17041	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q21	LACE1	rs17041-A	0.473	6E-6	(ALT )	0.03	[NR] U/L increase	Illumina [899892]	N
1415	chr6	108916572	108916573	rs9480865	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Normalized brain volume	753 European ancestry cases, 883 European ancestry controls	NA	6q21	FOXO3	rs9480865-?	0.16	7E-6			[NR]	Illumina [551642]	N
1416	chr6	108977662	108977663	rs9400239	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q21	FOXO3	rs9400239-C	0.69	1E-7	(EA, women)	0.023	[0.014-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1416	chr6	108977662	108977663	rs9400239	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q21	FOXO3	rs9400239-C	0.688	2E-8	(EA)	0.019	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1416	chr6	108977662	108977663	rs9400239	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q21	FOXO3	rs9400239-C	0.673	7E-8		0.017	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1416	chr6	108983526	108983527	rs9398171	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q21	NR	rs9398171-C	NR	4E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1416	chr6	108988183	108988184	rs2153960	21216879	Kaplan RC	2011-01-07	Hum Mol Genet	A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.	Insulin-like growth factors	10,280 European ancestry individuals	NA	6q21	FOXO3	rs2153960-A	0.69	5E-7	(IGF-I)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1418	chr6	109268049	109268050	rs2798641	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6q21	ARMC2	rs2798641-?	NR	2E-7	(FEV1, Pack-years)			NR [~ 2500000] (imputed)	N
1418	chr6	109268049	109268050	rs2798641	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6q21	ARMC2	rs2798641-T	0.18	8E-9	(FEV1/FVC)	0.041	[0.027-0.055] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1418	chr6	109268049	109268050	rs2798641	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6q21	ARMC2	rs2798641-T	0.18	5E-6	(FEV1)	0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1418	chr6	109285188	109285189	rs2273669	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	6q21	LACE1, LINC0022, LINC00222, ARMC2, SESN1, CEP57L1, FOXO3	rs2273669-G	0.15	8E-9		1.07	[1.03-1.11]	Illumina [~ 2600000] (imputed)	N
1421	chr6	109598963	109598964	rs13210693	22138694	Lin Z	2011-12-04	Nat Genet	A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.	Ankylosing spondylitis	1,837 Han Chinese ancestry cases, 4,231 Han Chinese ancestry controls	2,100 Han Chinese ancestry cases, 3,496 Han Chinese ancestry controls	6q21	intergenic	rs13210693-A	0.46	9E-7		1.15	[1.09-1.22]	Illumina [1356350] (imputed)	N
1421	chr6	109608496	109608497	rs9386791	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	6q21	CD164	rs9386791-C	0.416	1E-8	(MCH, AA)	0.2294	[0.15-0.31] pg decrease	Affymetrix, Illumina [NR]	N
1421	chr6	109616419	109616420	rs9374080	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	6q21	CD164	rs9374080-C	NR	4E-10		0.0	[0.002-0.003] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1421	chr6	109626964	109626965	rs1008084	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	6q21	CCDC162P	rs1008084-G	0.56	6E-26	(EA, MCH)	0.01	[0.0041-0.0159] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1421	chr6	109634827	109634828	rs11966072	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Red blood cell count	14,392 Japanese ancestry individuals	NA	6q21	C6orf182, CD164	rs11966072-G	0.1	7E-9		0.114	[0.075-0.153] unit decrease	Illumina [561583]	N
1421	chr6	109634827	109634828	rs11966072	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	6q21	C6orf182, CD164	rs11966072-G	0.1	3E-8		0.11	[0.071-0.149] unit increase	Illumina [561583]	N
1421	chr6	109634827	109634828	rs11966072	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	6q21	C6orf182, CD164	rs11966072-G	0.1	1E-8		0.111	[0.072-0.15] unit increase	Illumina [561583]	N
1422	chr6	109723938	109723939	rs6920372	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q21	PPIL6	rs6920372-A	0.413	2E-17		0.025	[0.019-0.031] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1422	chr6	109742014	109742015	rs9487094	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6q21	PPIL6, SMPD2, MNICAL1, ZBTB24, CD164	rs9487094-G	0.69	4E-6		4.7	[2.74-6.66] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1422	chr6	109783940	109783941	rs1046943	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q21	ZBTB24	rs1046943-A	0.58	3E-8		0.02	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1424	chr6	110007646	110007647	rs9400317	19684573	Ge D	2009-08-16	Nature	Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance.	Response to hepatitis C treatment	871 European ancestry cases, 191 African American cases, 75 Hispanic cases	NA	6q21	AKD2	rs9400317-?	NR	7E-6	(combined)			Illumina [565759]	N
1424	chr6	110090048	110090049	rs4947019	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6q21	intergenic	rs4947019-G	NR	8E-6	(MCV)	0.01	[0.003-0.011] fl decrease	Affymetrix, Illumina [~ 2110000] (imputed)	N
1426	chr6	110243291	110243292	rs6910580	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6q21	intergenic	rs6910580-?		5E-6	(PC1)	0.097	[NR] unit increase	Illumina [4167292] (imputed)	N
1430	chr6	110760007	110760008	rs12210538	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	6q21	SLC22A16	rs12210538-A	0.808	5E-21	(Octadecadienylcarnitine)	0.086	[NR] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1430	chr6	110761188	110761189	rs13219760	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	6q21	SLC22A16	rs13219760-?	NR	3E-6	(MCRI)	0.35	[0.17-0.53] unit increase	Illumina [693128]	N
1430	chr6	110851762	110851763	rs2817782	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	6q21	intergenic	rs2817782-?	NR	2E-6	(Alpha peak frequency, occipital	0.079	[0.048-0.11] unit increase	Illumina [527829]	N
1431	chr6	110946338	110946339	rs139429326	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6q21	NR	rs139429326-?	NR	2E-6	(Japanese)	0.5905	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1432	chr6	111137079	111137080	rs117178387	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6q21	NR	rs117178387-?	NR	1E-6	(Japanese)	0.5797	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1435	chr6	111424014	111424015	rs9400467	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Amino acid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	6q21	SLC22A16, SLC16A10	rs9400467-T	0.7048	2E-10	(Tyrosine)	0.0297	[0.02-0.039] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1435	chr6	111424014	111424015	rs9400467	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6q21	SLC16A10	rs9400467-T	0.71	7E-14	(tyrosine)	0.012	[0.0081-0.0159] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1436	chr6	111554821	111554822	rs6901004	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6q21	SLC16A10	rs6901004-C	0.57	1E-11	(tryptophan)	0.006	[0.004-0.008] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1436	chr6	111582884	111582885	rs9487605	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	6q21	KIAA1919	rs9487605-?	NR	1E-16	(Psoriasis)	1.27	[1.20-1.35]	Affymetrix, Illumina [~ 5200000]	N
1436	chr6	111655529	111655530	rs465969	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	6q21	REV3L	rs465969-A	NR	8E-12		1.403	[1.335-1.474]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1437	chr6	111673713	111673714	rs240993	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	6q21	TRAF3IP2	rs240993-T	0.26876	9E-7		1.15	[1.09-1.22]	Illumina [up to 4778154] (imputed)	N
1437	chr6	111673713	111673714	rs240993	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	6q21	TRAF3IP2	rs240993-T	0.26876	1E-8	(EA)	1.2	[1.15-1.26]	Illumina [up to 4778154] (imputed)	N
1437	chr6	111673713	111673714	rs240993	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA		TRAF3IP2	rs240993-T	NR	1E-14		1.282	[1.241-1.324]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1437	chr6	111673713	111673714	rs240993	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	6q21	REV3L	rs240993-?	NR	6E-18	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1437	chr6	111673713	111673714	rs240993	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6q21	TRAF3IP2	rs240993-A	0.25	5E-20		1.25	[1.16-1.34]	Illumina [535475]	N
1437	chr6	111696090	111696091	rs458017	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6q21	TRAF3IP2	rs458017-G	0.06	2E-16		1.37	[1.22-1.54]	Illumina [535475]	N
1437	chr6	111747082	111747083	rs7760535	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	6q21	SLC16A10	rs7760535-G	0.401	1E-12	(isoleucine/tyrosine + 10 other traits)	0.035	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1437	chr6	111794408	111794409	rs6900341	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	6q21	SLC16A10	rs6900341-?	NR	4E-15	(Ala, Tyr)	0.13	[0.091-0.169] unit increase	Illumina [~ 7700000] (imputed)	N
1438	chr6	111821112	111821113	rs6568685	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q21	NR	rs6568685-A	NR	7E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
1438	chr6	111848190	111848191	rs3851228	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q21	NR	rs3851228-A	0.06375	1E-14	(EA)	1.2023339	[1.16-1.25]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1438	chr6	111848190	111848191	rs3851228	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q21	NR	rs3851228-A	0.06375	3E-8	(EA)	1.1365786	[1.09-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1438	chr6	111848190	111848191	rs3851228	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	6q21	TRAF3IP2, FYN, REV3L	rs3851228-T	0.073	1E-13		1.153	[1.089-1.219]	Affymetrix, Illumina [1230000] (imputed)	N
1438	chr6	111885751	111885752	rs2179070	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q21	NR	rs2179070-?	NR	9E-18	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1438	chr6	111913261	111913262	rs33980500	20953188	Ellinghaus E	2010-10-17	Nat Genet	Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.	Psoriasis	472 European ancestry cases, 1,146 European ancestry controls	2,668, European ancestry cases, 762 French Canadian founder population cases, 2,585 cases, 3,485 European ancestry controls, 994 French Canadian founder population controls, 2,412 controls	6q21	TRAF3IP2	rs33980500-T	0.08	1E-16				Illumina [2339118] (imputed)	N
1438	chr6	111913261	111913262	rs33980500	20953186	Huffmeier U	2010-10-17	Nat Genet	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	Psoriatic arthritis	572 European ancestry cases, 888 European ancestry controls	Up to 1,761 European ancestry cases, 3,727 European ancestry controls	6q21	TRAF3IP2	rs33980500-T	0.07	1E-20		1.95	[1.69-2.24]	Affymetrix [1585307] (imputed)	N
1438	chr6	111926908	111926909	rs7769061	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	6q21	TRAF3IP2	rs7769061-G	NR	3E-10	(EA)	1.54	[1.35-1.76]	Illumina [up to 4778154] (imputed)	N
1438	chr6	111929861	111929862	rs9481169	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	6q21	TRAF3IP2	rs9481169-?	NR	1E-26	(Psoriasis)	1.58	[1.45-1.72]	Affymetrix, Illumina [~ 5200000]	N
1440	chr6	112122225	112122226	rs2148710	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6q21	FYN	rs2148710-T	0.137	3E-8	(Temperament)	0.22	[NR] unit increase	Affymetrix [677643]	N
1448	chr6	113124300	113124301	rs6934970	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	6q21	LOC100287612, MARCKS	rs6934970-?	NR	7E-6				NR [up to 8466825] (imputed)	N
1448	chr6	113134475	113134476	rs10782174	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	6q21	NR	rs10782174-?	NR	2E-6				NR [up to 8466825] (imputed)	N
1448	chr6	113144783	113144784	rs10457252	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	6q21	intergenic	rs10457252-?	NR	2E-8	(30x)			NR [2092490]	N
1448	chr6	113160343	113160344	rs62421103	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	6q21	NR	rs62421103-?	NR	4E-6				NR [up to 8466825] (imputed)	N
1450	chr6	113459412	113459413	rs2502399	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	6q21	LOC102724704	rs2502399-?		5E-6				Illumina [5970354] (imputed)	N
1450	chr6	113479334	113479335	rs2473967	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	6q21	intergenic	rs2473967-?	NR	2E-6				Affymetrix [786195]	N
1452	chr6	113665326	113665327	rs7765175	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	6q21	LOC100652953	rs7765175-T	0.14	5E-6	(AA)	0.21	[0.11-0.31] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1454	chr6	113908048	113908049	rs149358103	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	6q21	SOCS5P5, MARCKS	rs149358103-?	NR	5E-6		0.58	[0.33-0.83] unit increase	Illumina [1075436] (imputed)	N
1454	chr6	114017132	114017133	rs9488238	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6q21	intergenic	rs9488238-A	0.04	5E-6		0.28	[0.16-0.40] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
1458	chr6	114547980	114547981	rs9488343	24086445	Wang Q	2013-09-24	PLoS One	Genome-wide association analysis with gray matter volume as a quantitative phenotype in first-episode treatment-na&#x000ef;ve patients with schizophrenia.	Gray matter volume (schizophrenia interaction)	74 Han Chinese ancestry cases, 51 Han Chinese ancestry controls	NA	6q22.1	HS3ST5	rs9488343-?	NR	7E-7		0.0437	[NR] unit increase	NR [1983054] (imputed)	N
1459	chr6	114591985	114591986	rs9488363	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (rim area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	6q22.1	hCG_1820801	rs9488363-G	NR	2E-6		0.147	[0.065-0.229] unit decrease	Illumina [~ 2740000] (imputed)	N
1460	chr6	114696789	114696790	rs1337332	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q22.1	HS3ST5	rs1337332-C	0.569	7E-6	(EA, men)	0.022	[0.013-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1460	chr6	114713322	114713323	rs1033394	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q22.1	NR	rs1033394-C	NR	1E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1462	chr6	115069716	115069717	rs6928844	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q22.1	NR	rs6928844-C	0.828248277703605	7E-6	(IGP40)	0.2768	[0.16-0.4] unit increase	Illumina [~ 2500000] (imputed)	N
1462	chr6	115069716	115069717	rs6928844	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q22.1	NR	rs6928844-C	0.828187721552878	4E-6	(IGP39)	0.285	[0.16-0.41] unit increase	Illumina [~ 2500000] (imputed)	N
1465	chr6	115419049	115419050	rs145880548	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6q22.1	NR	rs145880548-?	NR	9E-7		0.4797	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1472	chr6	116310286	116310287	rs1933737	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	6q22.1	FRK	rs1933737-T	0.69	7E-7	(women)	0.034	[0.02-0.047] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1472	chr6	116312892	116312893	rs9488822	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6q22.1	FRK	rs9488822-T	0.36	2E-7		0.031	[NR] unit increase	NR [NR] (imputed)	N
1472	chr6	116312892	116312893	rs9488822	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6q22.1	FRK	rs9488822-T	0.36	1E-9		0.034	[NR] unit increase	NR [NR] (imputed)	N
1472	chr6	116312892	116312893	rs9488822	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6q22.1	FRK	rs9488822-T	0.41	3E-9		0.89	[0.54-1.24] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1472	chr6	116312892	116312893	rs9488822	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6q22.1	FRK	rs9488822-T	0.35	2E-10		1.18	[0.79-1.57] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1472	chr6	116387133	116387134	rs1999930	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6q22.1	FRK, COL10A1	rs1999930-?	0.70	1E-8		1.15	[NR]	Affymetrix [6036699] (imputed)	N
1473	chr6	116443734	116443735	rs3812111	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6q22.1	COL10A1	rs3812111-T	0.64	2E-8		1.1	[1.07-1.14]	Affymetrix, Illumina [2442884] (imputed)	N
1474	chr6	116543846	116543847	rs1204798	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	6q22.1	NT5DC1	rs1204798-?	NR	2E-6	(DMFS2)			Illumina [518997]	N
1474	chr6	116610200	116610201	rs60678552	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	6q22.1	DSE	rs60678552-C	0.87	5E-6	(Right HG area)	7.73	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1475	chr6	116768916	116768917	rs2858829	25082827	Julia A	2014-07-31	Hum Mol Genet	A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.	Ulcerative colitis	up to 7,483 European ancestry cases, up to 21,211 European ancestry controls	1,073 European ancestry cases, 1,279 European ancestry controls	6q22.1	FAM26F	rs2858829-?	NR	8E-10		1.12	[1.08-1.16]	Illumina [546271]	N
1478	chr6	117086377	117086378	rs654128	21460395	Gu J	2011-04-02	Cancer Prev Res (Phila)	A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer.	Telomere length	459 individuals	1,160 individuals	6q22.1	KPNA5	rs654128-?	NR	3E-6		0.12	[NR] unit increase	Illumina [312531]	N
1478	chr6	117114024	117114025	rs6901250	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	6q22.1	GPRC6A	rs6901250-A	NR	5E-8		0.035	[0.03-0.05] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1479	chr6	117210051	117210052	rs339331	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	6q22.1	RFX6	rs339331-T	NR	4E-11		1.2820514	[NR]	Illumina [4550396] (imputed)	N
1479	chr6	117210051	117210052	rs339331	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	6q22.1	NR	rs339331-T	0.71	6E-7		1.12	[1.07-1.17]	Affymetrix [up to 19977088] (imputed)	N
1479	chr6	117210051	117210052	rs339331	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	6q22.1	NR	rs339331-T	0.71	1E-6	(European)	1.13	[1.07-1.18]	Affymetrix [up to 19977088] (imputed)	N
1479	chr6	117210051	117210052	rs339331	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	6q22.1	GPRC6A, RFX6	rs339331-T	0.37	2E-12		1.22	[1.15-1.28]	Illumina [510687]	N
1481	chr6	117522155	117522156	rs961764	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q22.1	VGLL2	rs961764-C	0.42	1E-11		0.024	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1482	chr6	117605990	117605991	rs13201929	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		6q22.1	intergenic	rs13201929-?	0.121	3E-6			[NR]	Affymetrix, Illumina [152234]	N
1483	chr6	117730818	117730819	rs2273601	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	6q22.1	ROS1	rs2273601-A	0.23	8E-6	(UAZ Cert)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1483	chr6	117771276	117771277	rs17635492	23478653	Han JY	2013-03-12	Pharmacogenomics J	A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.	Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer	139 individuals	NA	6q22.1	DCBLD1	rs17635492-?	NR	4E-7	(Dominant model)	7.6	[3.50-16.70]	Affymetrix [334127]	N
1483	chr6	117786179	117786180	rs9387478	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	6q22.1	ROS1, DCBLD1	rs9387478-C	0.50	4E-10		1.18	[1.11-1.23]	Illumina [596032]	N
1483	chr6	117819356	117819357	rs2057314	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	6q22.1	DCBLD1, GOPC	rs2057314-?	0.50	3E-6		1.08	[1.04-1.11]	Affymetrix, Illumina [2708280] (imputed)	N
1483	chr6	117822992	117822993	rs4946260	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	6q22.1	NR	rs4946260-T	0.53	6E-8		1.07	[1.05-1.10]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1483	chr6	117822992	117822993	rs4946260	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	6q22.1	NR	rs4946260-T	0.53	5E-7	(EA)	1.08	[1.05-1.11]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1484	chr6	117844071	117844072	rs210648	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	6q22.1	DCBLD1	rs210648-G	NR	2E-6	(Risk)	0.122	[0.073-0.171] unit decrease	Illumina [628922]	N
1484	chr6	117871835	117871836	rs9285425	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6q22.1	DCBLD1	rs9285425-G	0.5	2E-8		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1486	chr6	118104135	118104136	rs76754339	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	6q22.1	NR	rs76754339-G	0.016	7E-6		5.7	[2.67-12.18]	Illumina [7261187] (imputed)	N
1489	chr6	118535982	118535983	rs457162	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	6q22.31	SLC35F1, PLN	rs457162-T	0.059	3E-18		1.85	[1.44-2.26] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1489	chr6	118574060	118574061	rs281868	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	6q22.31	SLC35F1	rs281868-G	0.50	4E-10		6.3	[4.36-8.24] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1489	chr6	118578042	118578043	rs89107	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Cardiac structure and function	12,612 European ancestry individuals	4,094 European ancestry individuals	6q22.31	C6orf204, SLC35F1, PLN	rs89107-G	0.50	1E-9	(LV internal diastolic dimensions)	0.03	[0.02-0.04] cm decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1489	chr6	118618980	118618981	rs166881	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	6q22.31	SLC35F1	rs166881-C	0.18	4E-6	(AA-triglyceride response)	22.26	[12.79-31.73] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1490	chr6	118653074	118653075	rs12210733	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	6q22.31	SLC35F1, PLN	rs12210733-A	0.063	1E-22		2.05	[1.64-2.46] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1490	chr6	118653203	118653204	rs12210810	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	6q22.31	PLN	rs12210810-C	0.06	2E-17		3.13	[2.29-3.97] ms decrease	Affymetrix, Illumina [2557000] (imputed)	N
1490	chr6	118667521	118667522	rs11153730	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	6q22.31	SLC35F1, PLN	rs11153730-T	0.502	2E-67		1.65	[1.45-1.85] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1490	chr6	118667521	118667522	rs11153730	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	6q22.31	SLC35F1	rs11153730-T	0.509	8E-21		0.381	[0.29-0.47] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1490	chr6	118667521	118667522	rs11153730	19587794	Nolte IM	2009-07-09	PLoS One	Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.	QT interval	3,558 European ancestry individuals	29,527 European ancestry individuals	6q22.31	C6orf204, SLC35F1, PLN	rs11153730-C	0.50	2E-29		0.09	[NR] unit increase	Affymetrix, Illumina [~ 2399142] (imputed)	N
1490	chr6	118680373	118680374	rs11970286	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	6q22.31	C6orf204	rs11970286-T	0.54	8E-7	(QT interval)	6.19	[3.73-8.65] % s.d. increase	Illumina [306060]	N
1490	chr6	118680373	118680374	rs11970286	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	6q22.31	PLN	rs11970286-T	0.44	2E-24		1.64	[1.25-2.03] ms increase	Affymetrix, Illumina [2557000] (imputed)	N
1491	chr6	118788651	118788652	rs11752626	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	6q22.31	PLN	rs11752626-G	0.74	2E-6		1.56	[0.93-2.19] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1491	chr6	118807846	118807847	rs25422	22010048	Wu X	2011-10-18	Hum Mol Genet	A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.	Renal cell carcinoma	894 European ancestry cases, 1,516 European ancestry controls	3,772 European ancestry cases, 8,505 European ancestry controls	6q22.31	NR	rs25422-?	NR	5E-6				Illumina [533191]	N
1492	chr6	118962739	118962740	rs6906287	23463857	Ritchie MD	2013-03-05	Circulation	Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.	Electrocardiographic conduction measures	5,272 European ancestry indiviudals	40,407 European ancestry individuals	6q22.31	C6orf204	rs6906287-C	0.451	6E-16	(QRS duration - CHARGE)	0.5383	[NR] msec increase	Illumina [528508]	N
1492	chr6	118993631	118993632	rs11756438	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	6q22.31	c6orf204, SLC35F1, PLN, ASF1A	rs11756438-A	0.47	5E-22		1.4	[1.06-1.74] msec increase	Affymetrix, Illumina [up to 2543686] (imputed)	N
1492	chr6	119000231	119000232	rs3902035	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	6q22.31	SLC35F1, PLN	rs3902035-C	0.316	8E-16		0.85	[0.63-1.07] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1493	chr6	119043897	119043898	rs9489510	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	6q22.31	SLC35F1, PLN	rs9489510-G	0.31	1E-8		0.61	[0.39-0.83] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1499	chr6	119866140	119866141	rs1392089	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6q22.31	LOC728727	rs1392089-A		4E-7	(AA)			Illumina [NR]	N
1500	chr6	119943400	119943401	rs2794256	25599974	Zhang H	2015-01-19	Genet Epidemiol	A Genome-Wide Association Study of Early Spontaneous Preterm Delivery.	Spontaneous preterm birth (preterm birth)	916 pre-term birth neonates, 935 term birth neonates	243 pre-term birth neonates, 149 term birth neonates	6q22.31	MAN1A1	rs2794256-A	0.27	5E-6		1.39	[NR]	Affymetrix [797196]	N
1501	chr6	120185664	120185665	rs9374842	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q22.31	LOC285762	rs9374842-T	0.748	7E-9		0.02	[0.013-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1501	chr6	120185664	120185665	rs9374842	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q22.31	LOC285762	rs9374842-T	0.748	1E-7	(EA)	0.019	[0.012-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1508	chr6	121098456	121098457	rs2817937	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (number of teeth)	5,752 European ancestry related individuals	NA	6q22.31	intergenic	rs2817937-C	0.12	3E-6		0.25	% variance	Illumina [300766]	N
1508	chr6	121100136	121100137	rs2789066	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	6q22.31	RP11-100A16.1	rs2789066-?	0.13	9E-6				Illumina [1212217]	N
1509	chr6	121189801	121189802	rs2789047	26030142	Van Driest SL	2015-06-01	PLoS One	Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy.	Peak creatinine levels in vancomycin therapy	489 European ancestry individuals	439 European ancestry individuals	6q22.31	GJA1, C6orf170, TBC1D32	rs2789047-A	0.28	1E-7		0.053	[0.033-0.073] unit decrease	Illumina [711284]	N
1510	chr6	121339178	121339179	rs1343075	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6q22.31	C6orf170	rs1343075-?	NR	2E-6	(Immediate Story Recall)			Illumina [up to 563855]	N
1513	chr6	121730721	121730722	rs17083533	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	6q22.31	GJA1	rs17083533-A	0.077	1E-8	(Conditional on rs1015451, rs11154027)	0.74	[0.49-0.99] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1513	chr6	121748541	121748542	rs11154022	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	6q22.31	GJA1	rs11154022-A	0.33	7E-8		5.8	[3.74-7.86] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1514	chr6	121781389	121781390	rs11154027	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	6q22.31	GJA1	rs11154027-C	0.567	7E-12	(Conditional on rs1015451, rs17083533)	0.32	[0.22-0.42] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1514	chr6	121816878	121816879	rs9490306	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6q22.31	intergenic	rs9490306-A	0.14	3E-7		1.18	[1.11-1.25]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1514	chr6	121816878	121816879	rs9490306	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	6q22.31	intergenic	rs9490306-A	0.14	7E-6		1.08	[1.05-1.12]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1515	chr6	121902868	121902869	rs4541776	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6q22.31	GJA1	rs4541776-?	0.33	2E-6	(GGT)			Illumina [496032]	N
1516	chr6	122114450	122114451	rs9320841	23183192	Deo R	2012-11-23	Heart Rhythm	Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.	Resting heart rate	13,372 African American individuals		6q22.31	GJA1, HMGB3P18	rs9320841-?	NR	5E-15	Random effects analysis	13.0	[9.67-16.33] ms increase	Affymetrix, Illumina [2954965] (imputed)	N
1516	chr6	122131484	122131485	rs1015451	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	6q22.31	GJA1	rs1015451-C	0.102	1E-33		0.713	[0.57-0.85] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1516	chr6	122146033	122146034	rs9398652	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	6q22.31	GJA1	rs9398652-A	0.10	4E-15		12.6	[9.54-15.66] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1516	chr6	122158269	122158270	rs12110693	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Biomedical quantitative traits	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	6q22.31	LOC644502	rs12110693-A	0.49	2E-9	(pulse rate)	0.66	[0.45-0.87] beats per minute increase	Affymetrix [2156535] (imputed)	N
1518	chr6	122388850	122388851	rs1402538	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	6q22.31	HSF2	rs1402538-A	0.38	4E-9		0.014	[0.010-0.018] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1518	chr6	122388850	122388851	rs1402538	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	6q22.31	HSF2	rs1402538-A	0.38	1E-6	(EA)	0.014	[0.0081-0.0199] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1518	chr6	122389954	122389955	rs868153	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	6q22.31	HSF2	rs868153-G	NR	1E-8		0.007	[0.0050-0.0090] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1518	chr6	122416340	122416341	rs2606618	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis in non-asthmatics	249 European ancestry cases, 164 Latino cases, 248 African American/Afro-Caribbean cases, 674 European ancestry controls, 588 Latino controls, 464 African American/Afro-Caribbean controls	NA	6q22.31	NR	rs2606618-T	0.17	4E-7		1.6	[1.33-1.92]	Affymetrix, Illumina [NR] (imputed)	N
1525	chr6	123282940	123282941	rs13192613	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	6q22.31	CLVS2	rs13192613-?	NR	3E-6	(rs11649743)	1.37	[1.20-1.56]	Affymetrix, Illumina [1117531] (imputed)	N
1530	chr6	123989740	123989741	rs9490860	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q22.31	NR	rs9490860-C	0.231696267498885	4E-6	(IGP61)	0.17	[0.098-0.242] unit decrease	Illumina [~ 2500000] (imputed)	N
1533	chr6	124326226	124326227	rs117780815	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		6q22.31	NKAIN2	rs117780815-?	0.03	6E-7		0.31	unit decrease	Illumina [NR] (imputed)	N
1533	chr6	124342662	124342663	rs6917824	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6q22.31	NKAIN2	rs6917824-G	0.83	4E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
1534	chr6	124405154	124405155	rs13204086	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	6q22.31	NKAIN2	rs13204086-T	0.04	2E-6	(Age 20-81 years)	0.1616	[0.095-0.228] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1535	chr6	124559731	124559732	rs77490164	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	6q22.31	NKAIN2	rs77490164-T	0.05	8E-7	(Age 20-60 years)	0.1282	[0.077-0.179] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1536	chr6	124691236	124691237	rs9491140	20634892	Calboli FC	2010-07-09	PLoS One	A genome-wide association study of neuroticism in a population-based sample.	Neuroticism	2,235 European ancestry individuals	NA	6q22.31	NKAIN2	rs9491140-?	0.33	3E-7	(main effect)	0.91	[0.56-1.26] unit decrease	Affymetrix [1705237] (imputed)	N
1536	chr6	124743506	124743507	rs531930	24999842	Garner C	2014-07-07	PLoS One	Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.	Celiac disease	1,550 European ancestry cases, 3,084 European ancestry controls	NA	6q22.31	NKAIN2	rs531930-?	NR	5E-7		1.3	[1.17-1.44]	Illumina [517345]	N
1537	chr6	124807813	124807814	rs587706	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	6q22.31	NKAIN2	rs587706-G	0.32	5E-6		0.03	[0.01-0.05] unit increase	Illumina [1632371] (imputed)	N
1538	chr6	124951062	124951063	rs504008	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QRS duration	455 African American individuals	NA	6q22.31	NKAIN2	rs504008-C		3E-6		2.7	[NR] ms increase	Illumina [> 930000]	N
1539	chr6	125072021	125072022	rs9398764	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	6q22.31	NR	rs9398764-?		9E-7		0.0958	[0.058-0.134] unit increase	Illumina [> 269840] (imputed)	N
1539	chr6	125156448	125156449	rs11154271	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6q22.31	TCBA1	rs11154271-C	0.22	1E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1546	chr6	126022601	126022602	rs1777220	24096698	De Vivo I	2013-10-06	Hum Genet	Genome-wide association study of endometrial cancer in E2C2.	Endometrial cancer	up to 2,695 European ancestry cases, up to 2,777 European ancestry controls	up to 3,235 cases, up to 12,059 controls	6q22.31	LOC643623	rs1777220-?	NR	2E-6	(European, All type I)			Illumina [873935]	N
1546	chr6	126090376	126090377	rs9388451	23872634	Bezzina CR	2013-07-21	Nat Genet	Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.	Brugada syndrome	312 European ancestry cases, 1,115 European ancestry controls	594 European ancestry cases, 806 European ancestry controls, 208 Japanese ancestry cases, 1,1016 Japanese controls	6q22.31	NCOA7, HEY2	rs9388451-C	0.50	5E-17		1.58	[1.42-1.75]	Affymetrix [360149]	N
1551	chr6	126698718	126698719	rs9388489	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	6q22.32	C6orf173	rs9388489-G	0.45	4E-13		1.17	[1.10-1.24]	Affymetrix, Illumina [841622] (imputed)	N
1552	chr6	126759032	126759033	rs9385399	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	6q22.32	C6orf173	rs9385399-T	0.46	2E-10		0.055	[0.037-0.073] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
1552	chr6	126767599	126767600	rs1361108	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	6q22.32	intergenic	rs1361108-T	0.30	9E-6		0.038	[0.020-0.056] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
1552	chr6	126767599	126767600	rs1361108	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	6q22.32	C6orf173, TRMT11	rs1361108-T	0.46	2E-8		2.1	[1.32-2.88] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1552	chr6	126781433	126781434	rs4895808	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q22.32	CENPW, NCOA7	rs4895808-C	0.54	5E-13		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1552	chr6	126819698	126819699	rs4418209	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	6q22.32	CENPW, RSPO3	rs4418209-T	0.53	1E-6		0.07	[0.031-0.109] unit increase	Illumina [~ 2500000] (imputed)	N
1552	chr6	126820560	126820561	rs2130604	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	6q22.32	CENPW, RSPO3	rs2130604-T	NR	4E-11	(EA)	0.1291	[0.091-0.167] unit increase	Illumina [~ 2500000] (imputed)	N
1552	chr6	126820560	126820561	rs2130604	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	6q22.32	CENPW, RSPO3	rs2130604-T	0.24	3E-11		0.112	[0.079-0.145] unit increase	Illumina [~ 2500000] (imputed)	N
1552	chr6	126835654	126835655	rs1490388	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6q22.32	C6orf173	rs1490388-T	0.42	6E-7		4.8	[2.84-6.76] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1552	chr6	126851159	126851160	rs1490384	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6q22.32	C6orf173	rs1490384-T	0.49	1E-16		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1552	chr6	126851159	126851160	rs1490384	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q22.32	C6orf173	rs1490384-T	0.5	4E-21		0.034	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1552	chr6	126866132	126866133	rs1155939	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q22.32	C6orf173	rs1155939-A	0.499	1E-45		0.042	[0.036-0.048] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1553	chr6	126964509	126964510	rs4273712	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	6q22.32	RNF146, CENPW, RSPO3	rs4273712-?	NR	9E-6	(Intracranial volume, EA)	9460.76	[5279.98-13641.54] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1553	chr6	126964509	126964510	rs4273712	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6q22.32	C6orf173	rs4273712-G		3E-6		1.05	[1.03-1.07]	Affymetrix, Illumina [2500000] (imputed)	N
1553	chr6	126964509	126964510	rs4273712	22504418	Ikram MA	2012-04-15	Nat Genet	Common variants at 6q22 and 17q21 are associated with intracranial volume.	Intracranial volume	8,175 European ancestry individuals	1,752 European ancestry individuals	6q22.32	RNF146, CENPW, RSPO3	rs4273712-G	0.27	2E-13		12.5	[NR] ml increase	Affymetrix, Illumina [2229753] (imputed)	N
1553	chr6	126966307	126966308	rs4549631	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	6q22.32	LOC387103	rs4549631-C	0.5	5E-13		0.06	[0.03-0.08] s.d. increase (males)	Affymetrix [402951]	N
1553	chr6	126986995	126986996	rs1262476	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	6q22.32	CENPW, RSPO3	rs1262476-G	NR	4E-8	(EA)	0.1045	[0.067-0.142] unit increase	Illumina [~ 2500000] (imputed)	N
1553	chr6	126986995	126986996	rs1262476	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	6q22.32	CENPW, RSPO3	rs1262476-G	0.77	3E-9		0.104	[0.069-0.139] unit increase	Illumina [~ 2500000] (imputed)	N
1554	chr6	127115453	127115454	rs13209747	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	6q22.32	RSPO3	rs13209747-T	0.19	3E-10	(SBP)	0.85	[0.44-1.26] unit increase	Affymetrix, Illumina [~ 2420000] (imputed)	N
1554	chr6	127115453	127115454	rs13209747	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	6q22.32	RSPO3	rs13209747-T	0.19	2E-11	(DBP)	0.56	[0.32-0.80] unit increase	Affymetrix, Illumina [~ 2420000] (imputed)	N
1555	chr6	127167071	127167072	rs13204965	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	6q22.33	CENPW, RSPO3	rs13204965-A	0.76	2E-6		0.09	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
1555	chr6	127167071	127167072	rs13204965	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	6q22.33	RSPO3	rs13204965-A	0.76	8E-12	(FNBMD)	0.04	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1555	chr6	127167071	127167072	rs13204965	21533022	Duncan EL	2011-04-21	PLoS Genet	Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.	Bone mineral density	900 European ancestry female individuals with low hip bone mineral density, 1,055 European ancestry female individuals with high hip bone mineral density	20,898 European ancestry female individuals	6q22.33	RSPO3	rs13204965-C	NR	3E-8	(femoral neck)	0.067	[NR] unit decrease	Illumina [2543887] (imputed)	N
1556	chr6	127391843	127391844	rs972275	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	411 European ancestry individuals from 150 families	NA	6q22.33	RSPO3	rs972275-?	NR	2E-6	(serum ferritin)			Affymetrix [100846]	N
1557	chr6	127436063	127436064	rs1936800	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	6q22.33	RSPO3	rs1936800-C	0.49	3E-8		0.02	[NR] mg/dL decrease	NR [NR] (imputed)	N
1557	chr6	127436063	127436064	rs1936800	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6q22.33	RSPO3	rs1936800-C	0.49	3E-10		0.02	[NR] unit increase	NR [NR] (imputed)	N
1557	chr6	127436063	127436064	rs1936800	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	6q22.33	RSPO3	rs1936800-T	0.50	1E-11		0.0052	[0.0036-0.0068] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
1557	chr6	127452115	127452116	rs1936805	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs1936805-T	0.5166	8E-36		0.0414	[0.035-0.048] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127452115	127452116	rs1936805	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs1936805-T	0.5153	5E-31	(women)	0.0514	[0.043-0.06] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127452115	127452116	rs1936805	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs1936805-T	0.5147	8E-10	(men)	0.0292	[0.02-0.039] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127452115	127452116	rs1936805	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs1936805-T	0.5109	4E-35	(EA)	0.0425	[0.036-0.049] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127452115	127452116	rs1936805	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs1936805-T	0.5109	3E-10	(EA, men)	0.0308	[0.021-0.04] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127452115	127452116	rs1936805	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs1936805-T	0.5106	4E-30	(EA, women)	0.0517	[0.043-0.061] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127452638	127452639	rs9491696	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6q22.33	RSPO3	rs9491696-G	0.48	2E-40		0.04	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
1557	chr6	127454892	127454893	rs72959041	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6q22.33	RSPO3	rs72959041-A	0.06	5E-8		0.075	[0.048-0.102] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1557	chr6	127454892	127454893	rs72959041	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs72959041-A	0.0578	2E-6	(EA, men)	0.0819	[0.048-0.116] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127454892	127454893	rs72959041	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs72959041-A	0.0575	3E-22	(EA)	0.1252	[0.1-0.15] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127454892	127454893	rs72959041	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs72959041-A	0.0571	2E-19	(EA, women)	0.1755	[0.14-0.21] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127454892	127454893	rs72959041	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs72959041-A	0.057	1E-6	(men)	0.0834	[0.05-0.117] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127454892	127454893	rs72959041	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs72959041-A	0.0561	7E-23		0.126	[0.1-0.15] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127454892	127454893	rs72959041	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6q22.33	RSPO3	rs72959041-A	0.0554	3E-19	(women)	0.1733	[0.14-0.21] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1557	chr6	127456121	127456122	rs9491697	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6q22.33	intergenic	rs9491697-G	0.439	4E-10		1.077	[1.042-1.112]	Affymetrix, Illumina [1230000] (imputed)	N
1557	chr6	127457259	127457260	rs2503322	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q22.33	NR	rs2503322-A	0.54	6E-8	(EA)	1.0676966		Affymetrix, Illumina [~ 9000000] (imputed)	N
1557	chr6	127468273	127468274	rs7741021	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	730 East Asian ancestry individuals, 2,380 European ancestry individuals, 11,150 individuals	11,058 European ancestry individuals, 2,870 European and other ancestry individuals, 21,439 individuals	6q22.33	RSPO3	rs7741021-C	0.47	9E-21	(BUA)	0.06	[0.05-0.07] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
1557	chr6	127468273	127468274	rs7741021	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	4,556 European ancestry individuals	2,236 European ancestry individuals	6q22.33	RSPO3	rs7741021-?		4E-8	(BMD-DXA)			Affymetrix, Illumina [up to 2399195] (imputed)	N
1557	chr6	127468273	127468274	rs7741021	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	6q22.33	RSPO3	rs7741021-C	0.47	1E-19	(VOS)	0.06	[0.05-0.08] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
1557	chr6	127493610	127493611	rs6569474	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	6q22.33	RSPO3	rs6569474-A	0.47	1E-8	(BUN)	0.009	[0.0059-0.0121] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1557	chr6	127509156	127509157	rs7745274	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Waist-hip ratio	4,774 European ancestry high waist-to-hip ratio individuals, 5,481 European ancestry low waist-to-hip ratio individuals	3,351 European ancestry high waist-to-hip ratio individuals, 3,352 European ancestry low waist-to-hip ratio individuals	6q22.33	RSPO3	rs7745274-A	0.55	9E-10		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1558	chr6	127600629	127600630	rs2180341	18326623	Gold B	2008-03-11	Proc Natl Acad Sci U S A	Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.	Breast cancer	249 Ashkenazi Jewish non-BRCA1/2 carriers cases, 299 Ashkenazi Jewish non-BRCA1/2 carriers controls	1,193 Ashkenazi Jewish non-BRCA1/2 carriers  cases,1,166 Ashkenazi Jewish non-BRCA1/2 carriers controls	6q22.33	ECHDC1, RNF146	rs2180341-G	0.21	3E-8		1.41	[1.25-1.59]	Affymetrix [150080]	N
1560	chr6	127889329	127889330	rs4897220	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6q22.33	NR	rs4897220-?	NR	2E-6	(EA)	0.1952	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1561	chr6	128021802	128021803	rs17299841	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune response to smallpox vaccine (IL-6)	Up to 512 European ancestry individuals, 199 African American individuals	NA	6q22.33	C6orf190	rs17299841-C		2E-7	(AA)			Illumina [NR]	N
1561	chr6	128040838	128040839	rs675531	25935106	Kim KW	2015-04-30	J Allergy Clin Immunol	Genome-wide association study of recalcitrant atopic dermatitis in Korean children.	Recalcitrant atopic dermatitis	246 Korean ancestry child cases, 551 Korean ancestry adult controls	NA	6q22.33	THEMIS	rs675531-C	0.113	7E-7		2.193	[1.610-2.994]	Affymetrix [2501352] (imputed)	N
1563	chr6	128194472	128194473	rs12194062	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QRS duration	455 African American individuals	NA	6q22.33	C6orf190	rs12194062-T		5E-6		5.16	[NR] ms increase	Illumina [> 930000]	N
1563	chr6	128245764	128245765	rs13204742	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q22.33	NR	rs13204742-A	0.1267	5E-10	(EA)	1.0959492	[1.07-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1563	chr6	128245764	128245765	rs13204742	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6q22.33	intergenic	rs13204742-T	0.124	8E-15		1.173	[1.118-1.23]	Affymetrix, Illumina [1230000] (imputed)	N
1563	chr6	128277150	128277151	rs9491891	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q22.33	NR	rs9491891-?	NR	3E-16	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1563	chr6	128278797	128278798	rs802734	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	6q22.33	THEMIS, PTPRK	rs802734-A	NR	6E-9		1.1	[1.09-1.12]	Illumina [465434]	N
1563	chr6	128278797	128278798	rs802734	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6q22.33	THEMIS, PTPRK	rs802734-G	0.31	3E-14		1.17	[1.12-1.22]	Illumina [292387]	N
1564	chr6	128328832	128328833	rs7742212	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q22.33	NR	rs7742212-A	NR	9E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1564	chr6	128390979	128390980	rs6938574	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q22.33	PTPRK	rs6938574-T	0.16	2E-9		0.04	[0.026-0.054] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1565	chr6	128492181	128492182	rs10499138	20068591	Van Laer L	2010-01-13	Eur J Hum Genet	A genome-wide association study for age-related hearing impairment in the Saami.	Hearing impairment	347 Finnish Saami individuals	NA	6q22.33	NR	rs10499138-A	0.25	2E-6	(PC2)			Affymetrix [83381]	N
1575	chr6	129783641	129783642	rs7755729	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	6q22.33	LAMA2	rs7755729-?		3E-6				Illumina [859311]	N
1575	chr6	129820037	129820038	rs12193446	25233373	Simpson CL	2014-09-18	PLoS One	Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.	Myopia	3,923 European ancestry cases, 11,696 European ancestry controls	1,410 European ancestry cases, 2,921 cases, 3,171 European ancestry controls, 998 controls	6q22.33	LAMA2	rs12193446-?		9E-6				Affymetrix, Illumina [up to 3397980] (imputed)	N
1575	chr6	129820037	129820038	rs12193446	25233373	Simpson CL	2014-09-18	PLoS One	Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.	Hyperopia	7,068 European ancestry cases, 6,844 European ancestry controls	1,554 European ancestry cases, 892 cases, 1,654 European ancestry controls, 2,921 controls	6q22.33	LAMA2	rs12193446-?		2E-7				Affymetrix, Illumina [up to 3397980] (imputed)	N
1575	chr6	129820037	129820038	rs12193446	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	6q22.33	ARHGAP18, LAMA2	rs12193446-A	0.9092	1E-8		0.1219	[0.08-0.164] unit increase	Illumina [2500000] (imputed)	N
1575	chr6	129834628	129834629	rs12205363	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	6q22.33	LAMA2	rs12205363-C	0.1	2E-12		0.235	[0.17-0.3] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1575	chr6	129861391	129861392	rs2275215	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Body mass index	11,536 European ancestry individuals	NA	6q22.33	LAMA2	rs2275215-T	0.73	4E-7		0.09	[0.05-0.13] SD decrease	Illumina [559712] (imputed)	N
1575	chr6	129874354	129874355	rs7749983	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	6q22.33	ARHGAP18, LAMA2	rs7749983-?	0.19	2E-6	(PD1)	2.39	[NR]	Illumina [~ 1400000] (imputed)	N
1576	chr6	130008444	130008445	rs12660691	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)	147 Japanese ancestry cases, 233 Japanese ancestry controls	NA	6q22.33	ARHGAP18	rs12660691-A	0.819	4E-6	(Allelic model)	3.199	[1.899-5.391]	Illumina [733202]	N
1576	chr6	130019353	130019354	rs17057640	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	6q22.33	ARHGAP18	rs17057640-C	0.095	5E-6	(3MSE)	3.0069	[1.73-4.28] unit decrease	Affymetrix [> 371951] (imputed)	N
1577	chr6	130031492	130031493	rs17057678	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	6q22.33	ARHGAP18	rs17057678-?	NR	6E-7		1.25	[NR]	Affymetrix [NR]	N
1578	chr6	130216509	130216510	rs9375674	22044751	Foster MC	2011-11-01	BMC Med Genet	Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.	Renal sinus fat	2,809 European ancestry individuals	NA	6q22.33	C6orf191	rs9375674-A	0.46	6E-6		0.158	[0.089-0.227] unit increase	Affymetrix [~ 2500000] (imputed)	N
1579	chr6	130345834	130345835	rs1415701	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6q23.1	L3MBTL3	rs1415701-A	0.39	1E-24		0.056	[0.044-0.068] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1579	chr6	130345834	130345835	rs1415701	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6q23.1	L3MBTL3	rs1415701-G	0.73	5E-13		1.19	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1579	chr6	130349118	130349119	rs6569648	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q23.1	L3MBTL3	rs6569648-C	0.235	5E-6	(EA, men)	0.022	[0.013-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1579	chr6	130349118	130349119	rs6569648	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q23.1	L3MBTL3	rs6569648-C	0.235	3E-6	(EA)	0.017	[0.0099-0.0241] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1579	chr6	130349118	130349119	rs6569648	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q23.1	L3MBTL3	rs6569648-C	0.232	2E-6		0.017	[0.0099-0.0237] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1579	chr6	130349118	130349119	rs6569648	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q23.1	L3MBTL3	rs6569648-T	0.76	1E-21		0.04	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1579	chr6	130358427	130358428	rs6899976	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6q23.1	L3MBTL3, SAMD3	rs6899976-G	0.28	6E-6		3.8	[2.23-5.37] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1579	chr6	130374460	130374461	rs7740107	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q23.1	L3MBTL3	rs7740107-A	0.737	3E-36		0.042	[0.036-0.048] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1581	chr6	130550062	130550063	rs10447419	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	PR interval	455 African American individuals	NA	6q23.1	intergenic	rs10447419-A		2E-6		8.65	[NR] ms decrease	Illumina [> 930000]	N
1582	chr6	130765739	130765740	rs12197554	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	6q23.1	TMEM200A	rs12197554-?	NR	8E-6		4.929	[2.86-7] unit decrease	Illumina [498648]	N
1582	chr6	130765739	130765740	rs12197554	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	6q23.1	TMEM200A	rs12197554-?	NR	7E-6		13.78	[8.03-19.53] unit decrease	Illumina [498648]	N
1582	chr6	130765739	130765740	rs12197554	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	6q23.1	TMEM200A	rs12197554-?	NR	6E-6		3.112	[1.83-4.4] unit decrease	Illumina [498648]	N
1583	chr6	130886436	130886437	rs9492645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q23.1	NR	rs9492645-G	0.947434826924789	7E-6	(IGP48)	0.3293	[0.19-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
1583	chr6	130886436	130886437	rs9492645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q23.1	NR	rs9492645-G	0.947434826924789	5E-6	(IGP8)	0.3363	[0.19-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
1583	chr6	130925766	130925767	rs1933755	25192705	Du M	2014-09-05	Cancer Epidemiol Biomarkers Prev	No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.	Colorectal cancer (calcium intake interaction)	9,006 European ancestry cases, 9,503 European ancestry controls	NA	6q23.1	EPB41L2, TMEM200A	rs1933755-T	0.9	2E-6	(Total calcium intake)	1.19	[1.11-1.28]	NR [~ 2700000] (imputed)	N
1586	chr6	131256363	131256364	rs7769153	22331829	Chasman DI	2012-02-13	Circ Cardiovasc Genet	Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.	Response to statin therapy (LDL-C)	6,989 European ancestry individuals	NA	6q23.2	EPB41L2	rs7769153-?	NR	2E-7	(fractional LDL-C reduction)	10.3	[6.77-13.83] % increase	Illumina [814418]	N
1586	chr6	131282209	131282210	rs6941712	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	6q23.2	EPB41L2	rs6941712-C	0.13	5E-6		149.67	[NR] unit decrease	Illumina [2380200] (imputed)	N
1587	chr6	131355863	131355864	rs6908917	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q23.2	NR	rs6908917-C	0.751956642030276	2E-6	(IGP15)	0.1674	[0.098-0.236] unit increase	Illumina [~ 2500000] (imputed)	N
1587	chr6	131446790	131446791	rs602848	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	6q23.2	intergenic	rs602848-C	0.16	5E-6		1.16	[1.09-1.24]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1587	chr6	131446790	131446791	rs602848	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	6q23.2	intergenic	rs602848-C	0.16	1E-6		1.18	[1.10-1.26]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1588	chr6	131563576	131563577	rs4629710	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		6q23.2	NR	rs4629710-A	0.2	6E-6	(non t11;14 and t4;14 IgH translocations vs. controls)	1.6	[1.31-1.96]	Illumina [414804] (imputed)	N
1590	chr6	131757246	131757247	rs9375813	24763700	Vinayagamoorthy N	2014-04-24	PLoS One	New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.	C-reactive protein levels	7,626 Korean ancestry individuals	903 Korean ancestry individuals	6q23.2	ARG1	rs9375813-A	0.115	3E-8		0.167	[NR] unit decrease	Affymetrix [1219546] (imputed)	N
1590	chr6	131809919	131809920	rs2807278	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	6q23.2	ARG1	rs2807278-?	NR	3E-7	(WHR)			Illumina [~ 550000]	N
1591	chr6	131924688	131924689	rs2248551	25245031	Luneburg N	2014-09-21	Circ Cardiovasc Genet	Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.	L-arginine levels	3,747 European ancestry individuals, 2,992 individuals,	1,159  European ancestry individuals	6q23.2	MED23, ENPP3	rs2248551-A	0.146	4E-19		4.022	[2.97-5.07] unit increase	Affymetrix, Illumina [up to 2200000] (imputed)	N
1592	chr6	132058946	132058947	rs12199015	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	6q23.2	ENPP3	rs12199015-?	NR	5E-6	(Response)	0.09	[0.051-0.129] ng/dL increase	Affymetrix [2543887] (imputed)	N
1593	chr6	132228768	132228769	rs6907728	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q23.2	ENPP1	rs6907728-C	0.186	3E-6	(CRP )	0.04	[NR] ng/mL increase	Illumina [899892]	N
1595	chr6	132397901	132397902	rs11962845	26301497	Dina C	2015-08-24	Nat Genet	Genetic association analyses highlight biological pathways underlying mitral valve prolapse.	Mitral valve prolapse	1,442 European ancestry cases, 2,439 European ancestry controls	1,422 European ancestry cases, 6,779 European ancestry controls	6q23.2	CTGF, LOC100507254	rs11962845-A	0.16	8E-6		1.23	[1.12-1.34]	Affymetrix, Illumina [~ 4800000] (imputed)	N
1596	chr6	132643116	132643117	rs589756	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q23.2	MOXD1	rs589756-A	0.129	9E-6	(Weight )	0.02	[NR] kg increase	Illumina [899892]	N
1596	chr6	132643116	132643117	rs589756	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q23.2	MOXD1	rs589756-A	0.129	5E-6	(WC )	0.03	[NR] cm increase	Illumina [899892]	N
1596	chr6	132643116	132643117	rs589756	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q23.2	MOXD1	rs589756-A	0.129	2E-6	(VO2max )	0.04	[NR] mL/min increase	Illumina [899892]	N
1596	chr6	132643116	132643117	rs589756	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q23.2	MOXD1	rs589756-A	0.129	2E-6	(Sleep energy expenditure )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1596	chr6	132643116	132643117	rs589756	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q23.2	MOXD1	rs589756-A	0.129	1E-7	(Lean body mass )	0.04	[NR] kg increase	Illumina [899892]	N
1596	chr6	132643116	132643117	rs589756	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q23.2	MOXD1	rs589756-A	0.129	1E-7	(Fat free mass )	0.04	[NR] kg increase	Illumina [899892]	N
1596	chr6	132643116	132643117	rs589756	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q23.2	MOXD1	rs589756-A	0.129	1E-6	(Total energy expenditure )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1598	chr6	132888938	132888939	rs9399032	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6q23.2	intergenic	rs9399032-A	0.33	4E-6		1.1	[1.06-1.15]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1600	chr6	133146795	133146796	rs7769051	21150874	McDonough CW	2010-12-08	Kidney Int	A genome-wide association study for diabetic nephropathy genes in African Americans.	Type 2 diabetes nephropathy	965 African American cases, 1,029 African American controls	709 African American cases, 690 African American controls	6q23.2	RPS12	rs7769051-A	0.29	2E-6		1.28	[1.16-1.42]	Affymetrix [832357]	N
1602	chr6	133315803	133315804	rs271170	23437003	Paternoster L	2013-02-21	PLoS Genet	Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.	Bone mineral density	up to 5,878 European ancestry individuals	up to 1,052 European ancestry individuals	6q23.2	LOC285735	rs271170-T	0.33	3E-12	(Cortical vBMD)	0.11	[0.071-0.149] unit decrease	Illumina [2401124] (imputed)	N
1602	chr6	133350935	133350936	rs3012465	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	6q23.2	EYA4	rs3012465-G	NR	2E-12	(EA)	0.1215	[0.088-0.155] unit increase	Illumina [~ 2500000] (imputed)	N
1602	chr6	133350935	133350936	rs3012465	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	6q23.2	EYA4	rs3012465-G	0.67	8E-17		0.127	[0.098-0.156] unit increase	Illumina [~ 2500000] (imputed)	N
1604	chr6	133608667	133608668	rs454953	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6q23.2	NR	rs454953-?	NR	4E-6	(AA)	0.2799	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1604	chr6	133663588	133663589	rs11753937	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	6q23.2	EYA4	rs11753937-T	NR	6E-6	(EA)	1.12	[0.61-1.63] unit increase	Affymetrix [~ 2300000] (imputed)	N
1606	chr6	133860344	133860345	rs9402515	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6q23.2	EYA4	rs9402515-?	0.09	1E-6	(Alpha-2 macroglobulin)			Illumina [496032]	N
1606	chr6	133867801	133867802	rs9375969	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6q23.2	EYA4	rs9375969-G	0.76	9E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1608	chr6	134158799	134158800	rs1208285	22306654	Feenstra B	2012-02-05	Nat Genet	Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.	Infantile hypertrophic pyloric stenosis	1,001 European ancestry cases, 2,401 European ancestry controls	796 European ancestry cases, 876 European ancestry controls	6q23.2	NR	rs1208285-C	0.39	6E-7		1.25	[1.14-1.36]	Illumina [523420]	N
1608	chr6	134196673	134196674	rs12524865	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6q23.2	TCF21	rs12524865-C	0.61	2E-7		1.11	[1.06-1.16]	Affymetrix [~ 2200000] (imputed)	N
1608	chr6	134214524	134214525	rs12190287	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	6q23.2	TCF21	rs12190287-?		2E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1608	chr6	134214524	134214525	rs12190287	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	6q23.2	TCF21	rs12190287-?		2E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1608	chr6	134214524	134214525	rs12190287	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	6q23.2	TCF21	rs12190287-G	NR	2E-9		1.1111	[1.08-1.15]	Illumina [575000] (imputed)	N
1608	chr6	134214524	134214525	rs12190287	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	6q23.2	TCF21	rs12190287-C	0.62	1E-12		1.08	[1.06-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1611	chr6	134544732	134544733	rs1763500	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	6q23.2	SGK1, LOC442261	rs1763500-C	NR	2E-6	(Smoking, years)	0.26	[NR] unit increase	Affymetrix [706791]	N
1611	chr6	134546684	134546685	rs1009840	25781172	Avramopoulos D	2015-03-17	PLoS One	Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.	Schizophrenia (inflammation and infection response interaction)	460 Ashkenazi Jewish schizophrenia cases, 241  Ashkenazi Jewish controls	NA	6q23.2	SGK1, SLC2A12	rs1009840-?		8E-6	(anti-TOXO)			Affymetrix [516638]	N
1611	chr6	134576510	134576511	rs9493873	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6q23.2	SGK1	rs9493873-G		4E-7	(AA)			Illumina [NR]	N
1612	chr6	134720066	134720067	rs9402592	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	6q23.2	LOC442261	rs9402592-?	NR	3E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1613	chr6	134773553	134773554	rs9321453	21768215	Tin A	2011-07-18	Hum Mol Genet	Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.	Urate levels	8,651 African American individuals	1,996 African American individuals	6q23.2	intergenic	rs9321453-T	0.42	1E-9	(AA)	0.14	[NR] mg/dl increase	Affymetrix [NR] (imputed)	N
1614	chr6	134898455	134898456	rs228437	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	6q23.2	ASIP	rs2284378-G	0.33	1E-7		1.21	[1.13-1.29]	Illumina [594997]	N
1615	chr6	135094271	135094272	rs11760067	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	6q23.3	ALDH8A1	rs11760067-T	0.02	7E-6	(AA)	0.8	[0.45-1.15] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1616	chr6	135138989	135138990	rs2049953	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (AST)	236 European ancestry cases	NA	6q23.3	intergenic	rs2049953-C	0.30	4E-6		0.26	[NR] unit increase	Illumina [324623]	N
1618	chr6	135411227	135411228	rs9376090	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6q23.3	HBS1L	rs9376090-C	0.28	3E-9		0.025	[NR] unit decrease	NR [NR] (imputed)	N
1618	chr6	135415003	135415004	rs7745098	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	6q23.3	HBS1L, MYB	rs7745098-G	0.48	3E-9		1.21	[1.14-1.29]	Illumina [296129]	N
1618	chr6	135418634	135418635	rs7775698	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.2615	2E-9	(EA)	0.5411	[0.37-0.72] unit increase	Illumina [544917]	N
1618	chr6	135418634	135418635	rs7775698	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.2615	4E-13	(EA)	0.2534	[0.19-0.32] unit increase	Illumina [544917]	N
1618	chr6	135418634	135418635	rs7775698	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.26	1E-14	(RBC count)	0.09	[0.07-0.11] unit decrease	Illumina [489421]	N
1618	chr6	135418634	135418635	rs7775698	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.24	1E-15	(MCH)	0.38	[0.29-0.47] unit increase	Illumina [489421]	N
1618	chr6	135418634	135418635	rs7775698	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Red blood cell count	14,392 Japanese ancestry individuals	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.35	7E-48		0.179	[0.16-0.20] unit decrease	Illumina [561583]	N
1618	chr6	135418634	135418635	rs7775698	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Platelet count	14,806 Japanese ancestry individuals	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.34	3E-14		0.093	[0.069-0.117] unit increase	Illumina [561583]	N
1618	chr6	135418634	135418635	rs7775698	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.35	3E-56		0.194	[0.17-0.22] unit increase	Illumina [561583]	N
1618	chr6	135418634	135418635	rs7775698	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin concentration	14,377 Japanese ancestry individuals	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.35	6E-12		0.085	[0.061-0.109] unit increase	Illumina [561583]	N
1618	chr6	135418634	135418635	rs7775698	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.35	3E-66		0.211	[0.19-0.23] unit increase	Illumina [561583]	N
1618	chr6	135418634	135418635	rs7775698	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	6q23.3	HBS1L, MYB	rs7775698-T	0.35	1E-10	(Ht)	0.08	[0.056-0.104] unit decrease	Illumina [561583]	N
1618	chr6	135418634	135418635	rs7775698	19853236	Ferreira MA	2009-10-22	Am J Hum Genet	Sequence variants in three loci influence monocyte counts and erythrocyte volume.	Hematology traits	2,538 European ancestry individuals, 3,477 individuals	1,543 individuals	6q23.3	HBS1L, MYB	rs7775698-C	0.74	8E-18	(MCV)	0.19	[0.15-0.23] s.d. decrease	Illumina, Perlegen [~ 2500000] (imputed)	N
1618	chr6	135418634	135418635	rs7775698	19853236	Ferreira MA	2009-10-22	Am J Hum Genet	Sequence variants in three loci influence monocyte counts and erythrocyte volume.	Hematology traits	2,538 European ancestry individuals, 3,477 individuals	1,543 individuals	6q23.3	HBS1L, MYB	rs7775698-C	0.74	5E-13	(MCH)	0.19	[0.13-0.25] s.d. decrease	Illumina, Perlegen [~ 2500000] (imputed)	N
1618	chr6	135418915	135418916	rs7776054	23935956	Pistis G	2013-07-31	PLoS One	Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.	Red blood cell traits	1,664 Val Borbera individuals	619 Friuli Venezia Giulia individuals, 16,145 European ancestry individuals	6q23.3	HBS1L, MYB	rs7776054-G	0.24	4E-6	(MCH)	0.0103	[0.0060-0.0146] unit increase	Illumina [~ 2500000] (imputed)	N
1618	chr6	135418915	135418916	rs7776054	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	6q23.3	HBS1L, MYB	rs7776054-G	NR	7E-69		0.01	[0.009-0.0111] pg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1618	chr6	135419017	135419018	rs9399137	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	6q23.3	HBS1L, MYB	rs9399137-T	0.69	9E-15		0.07	[0.050-0.090] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
1618	chr6	135419017	135419018	rs9399137	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Platelet count	13,582 European ancestry individuals	NA	6q23.3	HBS1L, MYB	rs9399137-T	NR	8E-10		5.51	[NR] unit decrease	Illumina [476395]	N
1618	chr6	135419017	135419018	rs9399137	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	6q23.3	HBS1L, MYB	rs9399137-T	NR	1E-11		0.5546	[0.39-0.71] unit decrease	Illumina [544917]	N
1618	chr6	135419017	135419018	rs9399137	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	6q23.3	HBS1L, MYB	rs9399137-T	NR	4E-15		0.2519	[0.19-0.31] unit decrease	Illumina [544917]	N
1618	chr6	135419017	135419018	rs9399137	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6q23.3	HBS1L, MYB	rs9399137-T	NR	3E-6	(RBC)	0.0361	[0.021-0.051] unit increase	Illumina [544917]	N
1618	chr6	135419017	135419018	rs9399137	23043469	Menzel S	2012-10-09	Br J Haematol	HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.	HbA2 levels	2,322 European ancestry individuals	1,716 European ancestry individuals	6q23.3	HBS1L, MYB	rs9399137-C	0.26	5E-9				Illumina [531038]	N
1618	chr6	135419017	135419018	rs9399137	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6q23.3	HBS1L, MYB	rs9399137-C	NR	5E-47		5.901	[5.1-6.7] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1618	chr6	135419017	135419018	rs9399137	19853236	Ferreira MA	2009-10-22	Am J Hum Genet	Sequence variants in three loci influence monocyte counts and erythrocyte volume.	Hematology traits	2,538 European ancestry individuals, 3,477 individuals	1,543 individuals	6q23.3	HBS1L, MYB	rs9399137-T	0.74	1E-9	(PLT)	0.16	[0.10-0.22] s.d. decrease	Illumina, Perlegen [~ 2500000] (imputed)	N
1618	chr6	135419017	135419018	rs9399137	17767159	Menzel S	2007-09-02	Nat Genet	A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.	F-cell distribution	179 European ancestry individuals	90 European ancestry individuals	6q23.3	intergenic	rs9399137-?	0.23	3E-36		15.8	[NR] % variance	Illumina [308015]	N
1618	chr6	135423208	135423209	rs9373124	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6q23.3	HBS1L, MYB	rs9373124-T	0.65	1E-10	(eosinophil count)	0.08	[0.06-0.10] unit increase	Illumina [2178645] (imputed)	N
1618	chr6	135423208	135423209	rs9373124	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Other erythrocyte phenotypes	24,167 European ancestry individuals	9,456 European ancestry individuals	6q23.3	HBS1L, MYB	rs9373124-C	NR	7E-14	(MCHC)	0.0	[0.002-0.003] g/dl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1618	chr6	135426572	135426573	rs4895441	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6q23.3	intergenic	rs4895441-A	0.628	9E-11	(Japanese)	0.018	[0.012-0.024] unit increase	Illumina [NR] (imputed)	N
1618	chr6	135426572	135426573	rs4895441	23935956	Pistis G	2013-07-31	PLoS One	Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.	Red blood cell traits	1,664 Val Borbera individuals	619 Friuli Venezia Giulia individuals, 16,145 European ancestry individuals	6q23.3	HBS1L, MYB	rs4895441-G	0.26	3E-6	(MCV)	0.0088	[0.0051-0.0125] unit increase	Illumina [~ 2500000] (imputed)	N
1618	chr6	135426572	135426573	rs4895441	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin concentration	7,943 African American children, 6,234 European ancestry children	NA	6q23.3	HBS1L, MYB	rs4895441-A	NR	3E-6		0.0928	[0.054-0.132] unit decrease	Illumina [544917]	N
1618	chr6	135426572	135426573	rs4895441	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	6q23.3	HBS1L, MYB	rs4895441-G	0.37	2E-9		0.073	[0.049-0.097] unit decrease	Illumina [561583]	N
1618	chr6	135426572	135426573	rs4895441	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	6q23.3	HBS1L, MYB	rs4895441-G	NR	7E-86		0.01	[0.007-0.009] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1618	chr6	135427143	135427144	rs9376092	25849990	Tapper W	2015-04-07	Nat Commun	Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.	Myeloproliferative neoplasms	524 European ancestry JAK2 negative cases, 2,674 European ancestry controls	1,383 European ancestry JAK2 negative cases, 4,609 European ancestry controls, 526 JAK2 negative cases, 5,506 controls	6q23.3	HBS1L, MYB	rs9376092-A	0.27	5E-6		1.18	[1.10-1.26]	Affymetrix [2098039] (imputed)	N
1618	chr6	135427143	135427144	rs9376092	20183929	Nuinoon M	2009-11-19	Hum Genet	A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.	Beta thalassemia/hemoglobin E disease	235 Thai-Chinese ancestry mild cases, 383 Thai-Chinese ancestry severe cases	52 Indonesian ancestry mild cases, 122 Indonesian ancestry severe cases	6q23.3	HBS1L, MYB	rs9376092-?	0.23	2E-11		2.91	[2.12-3.99]	Illumina [548094]	N
1618	chr6	135427158	135427159	rs9389269	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	6q23.3	HBS1L	rs9389269-T	0.72	3E-19	(EA, MCV)	0.6	[0.55-0.65] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1618	chr6	135427816	135427817	rs9402686	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6q23.3	NR	rs9402686-?	NR	4E-12		0.0138	[0.0099-0.0177] unit decrease	Illumina [NR] (imputed)	N
1618	chr6	135427816	135427817	rs9402686	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6q23.3	HBS1L, MYB	rs9402686-A	NR	7E-42	(MCV)	0.82	[0.70-0.94] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1618	chr6	135432551	135432552	rs9494145	25372704	Mtatiro SN	2014-11-05	PLoS One	Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.	Fetal hemoglobin levels in sickle cell anemia	1,213 Tanzanian ancestry cases	321 Afro-Caribbean and Sub-Saharan African cases	6q23.3	HBS1L, MYB, HMIP	rs9494145-?	0.05	2E-10		0.23	[NR] unit increase	Illumina [15153765] (imputed)	N
1618	chr6	135432551	135432552	rs9494145	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	6q23.3	HBS1L, MYB	rs9494145-T	0.73	3E-9	(Platelet Count)	8.19	[5.49-10.89] 10^9 L increase	Affymetrix, Illumina [~ 2200000] (imputed)	N
1618	chr6	135432551	135432552	rs9494145	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6q23.3	HBS1L, MYB	rs9494145-C	0.24	3E-15	(MCV)	0.98	[0.74-1.22] unit increase	Illumina [489421]	N
1618	chr6	135435500	135435501	rs9483788	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Other erythrocyte phenotypes	24,167 European ancestry individuals	9,456 European ancestry individuals	6q23.3	HBS1L, MYB	rs9483788-G	NR	1E-47	(RBC)	0.0	[0.012-0.016] 1 M cells/mm^3 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1618	chr6	135435500	135435501	rs9483788	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hematocrit	24,167 European ancestry individuals	9,456 European ancestry individuals	6q23.3	HBS1L, MYB	rs9483788-C	NR	3E-15		0.22	[0.16-0.28] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1618	chr6	135452151	135452152	rs6569992	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6q23.3	HBS1L, MYB	rs6569992-A	0.20	6E-9	(RBC count)	0.07	[0.05-0.09] unit decrease	Illumina [489421]	N
1618	chr6	135452151	135452152	rs6569992	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6q23.3	HBS1L, MYB	rs6569992-A	0.20	3E-8	(MCV)	0.75	[0.48-1.02] unit increase	Illumina [489421]	N
1618	chr6	135452151	135452152	rs6569992	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	6q23.3	HBS1L, MYB	rs6569992-A	0.19	1E-8	(MCH)	0.3	[0.19-0.40] unit increase	Illumina [489421]	N
1618	chr6	135494874	135494875	rs9321490	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	6q23.3	MYB	rs9321490-G	NR	2E-6	(Conditioned on rs11154801)	1.1	[1.08-1.11]	Illumina [465434]	N
1619	chr6	135540379	135540380	rs210937	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q23.3	MYB	rs210937-A	0.345	8E-6	(Ghrelin )	0.04	[NR] pg/100 uL increase	Illumina [899892]	N
1620	chr6	135739354	135739355	rs11154801	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	6q23.3	AHI1	rs11154801-A	NR	1E-13		1.13	[1.11-1.15]	Illumina [465434]	N
1622	chr6	136001002	136001003	rs9389316	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6q23.3	GAPDHL19	rs9389316-A		7E-13	(EA)			Illumina [NR]	N
1623	chr6	136133658	136133659	rs947583	20558539	Kestenbaum B	2010-06-17	J Am Soc Nephrol	Common genetic variants associate with serum phosphorus concentration.	Phosphorus levels	16,264 European ancestry individuals	5,444 individuals	6q23.3	PDE7B	rs947583-C	0.29	3E-12		0.04	[NR] mg/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1625	chr6	136368004	136368005	rs11154851	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		6q23.3	PDE7B	rs11154851-?	0.04	1E-8		0.25	unit decrease	Illumina [NR] (imputed)	N
1626	chr6	136505035	136505036	rs560713	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	6q23.3	PDE7B	rs560713-A	0.32	2E-6		0.53	[0.24-0.82] mmHg decrease	Illumina [466573]	N
1626	chr6	136545272	136545273	rs113508841	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	6q23.3	NR	rs113508841-?	NR	6E-6				NR [up to 8466825] (imputed)	N
1632	chr6	137291280	137291281	rs6937795	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6q23.3	IL20RA	rs6937795-A		7E-6		1.04	[1.02-1.06]	Affymetrix, Illumina [2500000] (imputed)	N
1633	chr6	137452907	137452908	rs17066096	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	6q23.3	IL22RA2	rs17066096-G	NR	6E-13		1.14	[1.12-1.15]	Illumina [465434]	N
1635	chr6	137673301	137673302	rs6928289	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	6q23.3	OLIG3	rs6928289-G	0.45	9E-6	(AA-triglyceride response)	15.56	[8.68-22.44] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1635	chr6	137675540	137675541	rs13201877	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q23.3	IFNGR1	rs13201877-G	0.143	2E-6	(EA, men)	0.028	[0.017-0.04] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1635	chr6	137675540	137675541	rs13201877	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q23.3	IFNGR1	rs13201877-G	0.142	2E-7	(EA)	0.023	[0.014-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1635	chr6	137675540	137675541	rs13201877	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q23.3	IFNGR1	rs13201877-G	0.14	4E-8		0.024	[0.015-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1637	chr6	137951046	137951047	rs473892	25979521	de Jong K	2015-06-05	J Allergy Clin Immunol	Genome-wide interaction study of gene-by-occupational exposure and effects on FEV<sub>1</sub> levels.	Forced expiratory volume in 1 second (environmental interaction)	12,400 individuals	1,436 individuals	6q23.3	OLIG3	rs473892-T	0.46	4E-7	Mineral dust	117.1	[NR] unit increase	Illumina [up to 221663]	N
1637	chr6	137959234	137959235	rs6933404	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q23.3	NR	rs6933404-?	NR	6E-15	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1637	chr6	137967213	137967214	rs13192841	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	6q23.3	OLIG3	rs13192841-A	NR	1E-8	(Conditioned on rs17066096)	1.1	[1.09-1.12]	Illumina [465434]	N
1637	chr6	137973067	137973068	rs2327832	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6q23.3	TNFAIP3	rs2327832-G	0.22	4E-19		1.23	[1.17-1.28]	Illumina [292387]	N
1637	chr6	138002636	138002637	rs10499194	17982456	Plenge RM	2007-11-04	Nat Genet	Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.	Rheumatoid arthritis	397 European ancestry cases, 1,211 controls	1,408 cases, 2,426 controls, 875 European ancestry cases, 832 European ancestry controls	6q23.3	TNFAIP3, OLIG3	rs10499194-C	0.71	1E-9		1.33	[1.15-1.52]	Affymetrix [79853]	N
1637	chr6	138006503	138006504	rs6920220	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q23.3	NR	rs6920220-A	0.2086	5E-22	(EA)	1.1582799	[1.13-1.19]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1637	chr6	138006503	138006504	rs6920220	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q23.3	NR	rs6920220-A	0.2086	1E-14	(EA)	1.0993968	[1.08-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1637	chr6	138006503	138006504	rs6920220	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	6q23.3	TNFAIP3	rs6920220-?		3E-8		1.23	[1.14-1.32]	Affymetrix, Illumina [1831729] (imputed)	N
1637	chr6	138006503	138006504	rs6920220	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	6q23.3	TNFAIP3	rs6920220-A	0.206	1E-21		1.102	[1.064-1.141]	Affymetrix, Illumina [1230000] (imputed)	N
1637	chr6	138006503	138006504	rs6920220	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6q23.3	intergenic	rs6920220-A	0.21	8E-17		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1637	chr6	138006503	138006504	rs6920220	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6q23.3	TNFAIP3	rs6920220-A	0.22	9E-13		1.22	[1.16-1.29]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1637	chr6	138006503	138006504	rs6920220	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	6q23.3	TNFIP3, OLIG3	rs6920220-?	0.22	2E-9		1.24	[1.16-1.32]	Affymetrix, Illumina [at least 315971] (imputed)	N
1637	chr6	138006503	138006504	rs6920220	17982456	Plenge RM	2007-11-04	Nat Genet	Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.	Rheumatoid arthritis	397 European ancestry cases, 1,211 controls	1,408 cases, 2,426 controls, 875 European ancestry cases, 832 European ancestry controls	6q23.3	TNFAIP3, OLIG3	rs6920220-?	0.20	1E-7		1.22	[NR]	Affymetrix [79853]	N
1638	chr6	138038904	138038905	rs514475	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	6q23.3	AL357060.1	rs514475-?	NR	6E-8	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1638	chr6	138118580	138118581	rs681323	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	6q23.3	TNFAIP3	rs681323-?	NR	7E-8	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1638	chr6	138132515	138132516	rs10499197	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	6q23.3	TNFAIP3	rs10499197-?	NR	2E-9		1.638	[NR]	Illumina [NR]	N
1639	chr6	138195692	138195693	rs643177	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	6q23.3	TNFAIP3	rs643177-T	0.273	9E-12		1.25	[1.17-1.33]	Illumina [up to 4778154] (imputed)	N
1639	chr6	138195692	138195693	rs643177	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	6q23.3	TNFAIP3	rs643177-T	0.273	5E-10	(EA)	1.24	[1.16-1.33]	Illumina [up to 4778154] (imputed)	N
1639	chr6	138195692	138195693	rs643177	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	6q23.3	TNFAIP3	rs643177-?	NR	9E-16	(Psoriasis)	1.27	[1.20-1.34]	Affymetrix, Illumina [~ 5200000]	N
1639	chr6	138195722	138195723	rs5029939	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6q23.3	TNFAIP3	rs5029939-G	0.0445	8E-9		1.67	[1.40-1.99]	Affymetrix [556134]	N
1639	chr6	138195722	138195723	rs5029939	19165918	Graham RR	2008-08-01	Nat Genet	Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.	Systemic lupus erythematosus	431 European ancestry cases, 2,155 European ancestry controls	447 European ancestry trios, 293 trios	6q23.3	TNFAIP3	rs5029939-?	0.03	3E-12		2.28	[NR]	Affymetrix [313238]	N
1639	chr6	138196065	138196066	rs2230926	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6q23.3	TNFAIP3	rs2230926-G	0.02	1E-13		2.71		Illumina [2100739] (imputed)	N
1639	chr6	138196065	138196066	rs2230926	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	6q23.3	TNFAIP3, OLIG3	rs2230926-C	0.07	2E-6		1.31	[1.17-1.46]	Illumina [393217]	N
1639	chr6	138196065	138196066	rs2230926	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	6q23.3	TNFAIP3	rs2230926-C	0.04	1E-17		1.72	[1.52-1.94]	Illumina [493955]	N
1639	chr6	138197823	138197824	rs582757	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	6q23.3	TNFAIP3	rs582757-T	NR	6E-12		1.2468828	[1.21-1.29]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1639	chr6	138199416	138199417	rs610604	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6q23.3	TNFAIP3	rs610604-?	NR	7E-7		1.22	[1.13-1.32]	Illumina [535475]	N
1639	chr6	138199416	138199417	rs610604	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	6q23.3	TNFAIP3	rs610604-G	0.32	9E-12		1.19	[NR]	Perlegen [~ 2500000] (imputed)	N
1639	chr6	138227363	138227364	rs7752903	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q23.3	TNFAIP3	rs7752903-G	0.07	7E-11	(East Asian)	1.34	[1.23-1.46]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1639	chr6	138227363	138227364	rs7752903	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q23.3	TNFAIP3	rs7752903-G	0.04	2E-29		1.38	[1.31-1.46]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1639	chr6	138227363	138227364	rs7752903	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q23.3	TNFAIP3	rs7752903-G	0.03	2E-20	(EA)	1.41	[1.31-1.52]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1639	chr6	138262772	138262773	rs17781283	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	6q23.3	NR	rs17781283-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1639	chr6	138266684	138266685	rs9321637	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	6q23.3	TNFAIP3	rs9321637-C	NR	8E-6	(Dichotomous variable)	2.17	[1.56-3.13]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1641	chr6	138426031	138426032	rs1556640	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	6q23.3	PERP	rs1556640-T	0.88	2E-6		0.075	[0.044-0.106] unit decrease	Illumina [6150213] (imputed)	N
1644	chr6	138922043	138922044	rs7758889	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6q24.1	intergenic	rs7758889-?		7E-7				NR [~ 3000000] (imputed)	N
1644	chr6	138922043	138922044	rs7758889	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6q24.1	intergenic	rs7758889-?		9E-7				NR [~ 3000000] (imputed)	N
1647	chr6	139250124	139250125	rs17068112	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	6q24.1	REPS1	rs17068112-?	NR	3E-6	(% Change in score)	0.26	[NR] unit increase	Illumina [~ 7000000] (imputed)	N
1650	chr6	139660011	139660012	rs11155053	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q24.1	CITED2	rs11155053-A	0.059	9E-6	(HRmax )	0.03	[NR] bpm increase	Illumina [899892]	N
1651	chr6	139829665	139829666	rs605066	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6q24.1	CITED2	rs605066-C	0.42	3E-8		0.028	[NR] unit decrease	NR [NR] (imputed)	N
1651	chr6	139829665	139829666	rs605066	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	6q24.1	CITED2	rs605066-C	0.42	3E-8		0.39	[0.23-0.55] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1651	chr6	139831179	139831180	rs679582	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	6q24.1	CITED2	rs679582-?	NR	3E-6		0.095	[0.056-0.134] unit increase	Illumina [> 2500000] (imputed)	N
1651	chr6	139834011	139834012	rs632057	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	6q24.1	CITED2	rs632057-G	0.25	1E-9		0.082	[0.057-0.107] unit decrease	Illumina [561583]	N
1651	chr6	139834011	139834012	rs632057	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	6q24.1	CITED2	rs632057-G	0.25	1E-9		0.081	[0.056-0.106] unit decrease	Illumina [561583]	N
1651	chr6	139835497	139835498	rs17585887	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6q24.1	CITED2	rs17585887-T	0.44	7E-11		0.039	[0.027-0.051] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1651	chr6	139835688	139835689	rs668459	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	6q24.1	CITED2	rs668459-T	NR	4E-8		0.3363	[0.22-0.46] unit decrease	Illumina [544917]	N
1651	chr6	139835688	139835689	rs668459	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	6q24.1	CITED2	rs668459-T	NR	9E-9		0.139	[0.092-0.186] unit decrease	Illumina [544917]	N
1651	chr6	139835688	139835689	rs668459	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	6q24.1	NR	rs668459-T	NR	3E-6		0.02	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1651	chr6	139838418	139838419	rs628751	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	6q24.1	CITED2	rs628751-C	NR	1E-17		0.0	[0.003-0.005] pg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1651	chr6	139839422	139839423	rs643381	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	6q24.1	CITED2	rs643381-A	NR	5E-25		0.0	[0.003-0.005] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1651	chr6	139840692	139840693	rs592423	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	6q24.1	intergenic	rs592423-C	0.54	4E-7		0.02	[0.012-0.028] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1651	chr6	139844428	139844429	rs590856	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	6q24.1	CITED2, LOC645434	rs590856-G	0.43	5E-36	(EA, MCV)	0.313	[0.26-0.36] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1652	chr6	139898857	139898858	rs9495528	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6q24.1	CITED2, LOC100132735	rs9495528-C	0.93	9E-6	(men)	0.171	[0.097-0.245] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1654	chr6	140139814	140139815	rs12664111	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q24.1	NR	rs12664111-G	0.0919615409617097	6E-6	(IGP68)	0.2425	[0.14-0.35] unit decrease	Illumina [~ 2500000] (imputed)	N
1654	chr6	140153410	140153411	rs6903961	25089948	Theusch E	2014-10-01	Pharmacogenet Genomics	Ancestry and other genetic associations with plasma PCSK9 response to simvastatin.	Response to simvastatin treatment (PCSK9 protein level change)	562 European ancestry individuals	287 African American individuals	6q24.1	LOC100132735	rs6903961-A	0.167	9E-6	(EA)	0.111	[NR] unit decrease	Illumina [570422]	N
1655	chr6	140273646	140273647	rs642858	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	6q24.1	intergenic	rs642858-A	0.40	2E-6	(Indian)	1.35	[1.19-1.53]	Illumina [~ 2000000] (imputed)	N
1656	chr6	140448846	140448847	rs75402058	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6q24.1	NR	rs75402058-?	NR	7E-6	(EA)	0.9986	[0.57-1.43] unit decrease	Illumina [up to 11892802] (imputed)	N
1657	chr6	140516967	140516968	rs76846186	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6q24.1	NR	rs76846186-?	NR	2E-8	(Native Hawaiian)	1.4779	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1659	chr6	140838473	140838474	rs146383502	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6q24.1	NR	rs146383502-?	NR	5E-7	(Native Hawaiian)	1.2123	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1661	chr6	141123710	141123711	rs61613191	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6q24.1	LOC729070, LOC729076	rs61613191-A	0.004	7E-6		9.56	[2.88-31.7]	Illumina [1556551]	N
1662	chr6	141169824	141169825	rs11155133	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	6q24.1	intergenic	rs11155133-G	0.01	3E-7		3.62	[2.10-6.00]	Affymetrix [307944]	N
1667	chr6	141856593	141856594	rs6570465	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	6q24.1	intergenic	rs6570465-C	0.02	4E-7			[NR]	Affymetrix [398699]	N
1667	chr6	141857133	141857134	rs7742587	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	6q24.1	intergenic	rs7742587-C	0.02	3E-7			[NR]	Affymetrix [398699]	N
1667	chr6	141926003	141926004	rs34596385	24478790	Lee JH	2014-01-17	Front Genet	Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.	Telomere length	4,829 European ancestry individuals from 586 families with exceptional longevity	NA	6q24.1	AK097143	rs34596385-T	0.046	6E-6			[NR]	Illumina [9250000] (imputed)	N
1668	chr6	142033725	142033726	rs17071124	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep quality	2,315 European ancestry individuals	NA	6q24.1	intergenic	rs17071124-G	0.01	3E-6		0.75	[0.44-1.06] unit increase	Illumina [2380486] (imputed)	N
1672	chr6	142512135	142512136	rs225675	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	6q24.1	GPR126	rs225675-G	0.19	1E-7	(AA-glucose response)	5.29	[3.35-7.23] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1672	chr6	142527141	142527142	rs225694	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q24.2	GPR126	rs225694-?	NR	1E-7	(Conditioned on rs7763064)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1672	chr6	142548098	142548099	rs225717	21060863	Ikram MK	2010-10-28	PLoS Genet	Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.	Retinal vascular caliber	15,358 European ancestry individuals	6,652 European ancestry individuals	6q24.2	VTA1, NMBR	rs225717-C	0.23	1E-16	(Retinal venular caliber)	1.9	[1.45-2.35] um decrease	Affymetrix, Illumina [2194468] (imputed)	N
1673	chr6	142655800	142655801	rs7741741	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6q24.2	GPR126	rs7741741-T	0.72	1E-20		1.24	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1673	chr6	142679571	142679572	rs6570507	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6q24.2	GPR126	rs6570507-A	0.38	2E-11		0.032	[0.02-0.044] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1673	chr6	142679571	142679572	rs6570507	23666238	Kou I	2013-05-12	Nat Genet	Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.	Scoliosis	1,033 Japanese ancestry cases, 1,473 Japanese ancestry controls	1,529 East Asian ancestry cases, 25,675 East Asian ancestry controls, 447 European ancestry cases, 737 European ancestry controls	6q24.2	GPR126	rs6570507-?	0.43	4E-12	(East Asian)	1.26	[1.18-1.35]	Illumina [465762]	N
1673	chr6	142679571	142679572	rs6570507	23666238	Kou I	2013-05-12	Nat Genet	Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.	Scoliosis	1,033 Japanese ancestry cases, 1,473 Japanese ancestry controls	1,529 East Asian ancestry cases, 25,675 East Asian ancestry controls, 447 European ancestry cases, 737 European ancestry controls	6q24.2	GPR126	rs6570507-?	0.43	1E-14		1.27	[1.20-1.35]	Illumina [465762]	N
1673	chr6	142679571	142679572	rs6570507	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Height	11,536 European ancestry individuals	NA	6q24.2	GPR126	rs6570507-G	0.71	2E-7		0.08	[0.04-0.12] SD increase	Illumina [559712] (imputed)	N
1673	chr6	142679571	142679572	rs6570507	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	6q24.2	GPR126	rs6570507-?	0.42	4E-11		0.08	[0.06-0.10] s.d. decrease	Illumina [229216]	N
1673	chr6	142703876	142703877	rs4896582	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q24.2	GPR126	rs4896582-A	0.299	3E-55		0.051	[0.045-0.057] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1673	chr6	142703876	142703877	rs4896582	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	6q24.2	GPR126	rs4896582-A	0.27	2E-18		0.38	[0.28-0.48] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
1674	chr6	142750515	142750516	rs3817928	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6q24.2	GPR126	rs3817928-?	NR	3E-12	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
1674	chr6	142750515	142750516	rs3817928	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	6q24.2	GPR126	rs3817928-A	0.78	1E-9	(FEV1/FVC)	0.42	[NR] % decrease	Affymetrix, Illumina [2534500] (imputed)	N
1674	chr6	142753337	142753338	rs1329705	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	6q24.2	GPR126	rs1329705-?	0.8	3E-6	(FEV1 65%)	1.27		Affymetrix, Illumina [up to 2500000] (imputed)	N
1674	chr6	142767632	142767633	rs3748069	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6q24.2	GPR126	rs3748069-A	0.74	5E-14		6.5	[5.44-9.36] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1674	chr6	142794020	142794021	rs4637667	26211971	Ogura Y	2015-07-23	Am J Hum Genet	A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.	Adolescent idiopathic scoliosis	2,109 Japanese ancestry cases, 11,140 Japanese ancestry controls	2,223 East Asian ancestry cases, 4,724 East Asian ancestry controls	6q24.2	GPR126	rs4637667-A	0.342	3E-9		1.24	[1.16-1.34]	Illumina [4420789] (imputed)	N
1674	chr6	142797288	142797289	rs7763064	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Birth length	28,459 European ancestry individuals	16,145 European ancestry individuals, 280 Moroccan ancestry individuals, 284 Surinamese ancestry individuals, 319 Turkish ancestry individuals, 651 Chinese ancestry individuals	6q24.2	GPR126	rs7763064-A	0.288	6E-6		0.044	[0.024-0.064] unit decrease	Affymetrix, Illumina [2201971] (imputed)	N
1674	chr6	142797288	142797289	rs7763064	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q24.2	GPR126	rs7763064-A	0.29	1E-33		0.048	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1674	chr6	142822216	142822217	rs9496398	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	6q24.2	AL161904.1, RP11-440G9.1	rs9496398-?	NR	4E-6				Illumina [874956]	N
1675	chr6	142907514	142907515	rs263156	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe size	4,919 Latin American individuals	NA	6q24.2	GPR126, LOC153910	rs263156-C	0.67	3E-13		0.109	unit increase	Illumina [671038]	N
1675	chr6	142907514	142907515	rs263156	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe attachment	4,919 Latin American individuals	NA	6q24.2	LOC153910, GPR126	rs263156-C	0.67	2E-6				Illumina [671038]	N
1675	chr6	142907514	142907515	rs263156	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear morphology	4,919 Latin American individuals	NA	6q24.2	LOC153910, GPR126	rs263156-C	0.67	5E-9				Illumina [671038]	N
1676	chr6	143070504	143070505	rs197480	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	6q24.2	HIVEP2	rs197480-T	0.0394	4E-6		1.428	[NR] unit increase	Illumina [1216074] (imputed)	N
1676	chr6	143119831	143119832	rs12211360	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	6q24.2	HIVEP2	rs12211360-A	0.966	6E-6		0.16	[0.10-0.22] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1678	chr6	143362752	143362753	rs75796365	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	6q24.2	LOC100507489	rs75796365-C	NR	3E-6	(Fixed effect)	0.13	[0.071-0.189] unit decrease	Illumina [4736131] (imputed)	N
1680	chr6	143651968	143651969	rs9403484	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q24.2	NR	rs9403484-T	NR	6E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1681	chr6	143659011	143659012	rs6901152	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	6q24.2	AIG1	rs6901152-T	0.43	5E-6	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
1681	chr6	143733575	143733576	rs2496589	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		6q24.2	intergenic	rs2496589-?	NR	5E-6		1.7	[NR]	Illumina [up to 810372] (imputed)	N
1682	chr6	143890038	143890039	rs10979	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	6q24.2	RP11-436I24.1	rs10979-A	0.669	1E-6		1.1943	[NR]	Illumina [8207076] (imputed)	N
1682	chr6	143898893	143898894	rs12199775	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q24.2	NR	rs12199775-A	0.93	4E-7	(EA)	1.1094881		Affymetrix, Illumina [~ 9000000] (imputed)	N
1682	chr6	143898893	143898894	rs12199775	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q24.2	NR	rs12199775-G	0.93	5E-6	(EA)	1.1207099		Affymetrix, Illumina [~ 9000000] (imputed)	N
1682	chr6	143898893	143898894	rs12199775	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	6q24.2	PHACTR2	rs12199775-A	0.929	2E-8		1.129	[1.066-1.195]	Affymetrix, Illumina [1230000] (imputed)	N
1683	chr6	143943313	143943314	rs9390123	23108145	Wang LE	2012-10-29	Cancer Res	Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer.	Lung Cancer (DNA repair capacity)	914 European ancestry non-small cell lung cancer cases, 860 European ancestry controls	679 European ancestry ancestry non-small cell lung cancer cases, 695 European ancestry controls	6q24.2	PHACTR2	rs9390123-A	0.3957	7E-6				Illumina [303669]	N
1683	chr6	143994198	143994199	rs9403521	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q24.2	PHACTR2	rs9403521-G	0.172	8E-6	(Height z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
1684	chr6	144079853	144079854	rs6931865	22704111	Hotaling JM	2012-06-13	J Urol	Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.	Erectile dysfunction in type 1 diabetes	125 European ancestry cases, 403 European ancestry controls	NA	6q24.2	PHACTR2	rs6931865-A	0.336	4E-6				Illumina [840354]	N
1684	chr6	144081608	144081609	rs2073214	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	6q24.2	NR	rs2073214-T	NR	8E-6	(EA)	0.03512	(-0.05049--0.01974) mg/dl decrease	Illumina [up to 509150]	N
1692	chr6	145185641	145185642	rs9399510	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (mean eye scanning length)	128 Han Chinese ancestry cases	NA	6q24.2	NR	rs9399510-?		3E-6		7.765	[4.67-10.86] unit decrease	Illumina [498648]	N
1705	chr6	146897632	146897633	rs13220141	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	6q24.3	RAB32	rs13220141-A	.209	1E-22		1.27	[NR]	Illumina [4577171] (imputed)	N
1705	chr6	146918949	146918950	rs2275606	22019778	Zhang F	2011-10-23	Nat Genet	Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.	Leprosy	706 Han Chinese ancestry cases, 5,581 Han Chinese ancestry controls	3,301 Han Chinese ancestry cases, 5,299 Han Chinese ancestry controls	6q24.3	RAB32	rs2275606-A	0.21	4E-14		1.3	[1.21-1.39]	NR [1701673] (imputed)	N
1710	chr6	147531080	147531081	rs2786189	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	6q24.3	STXBP5	rs2786189-C	0.48	5E-6	(Hispanic)	1.4706	[NR]	Illumina [1795103]	N
1710	chr6	147549296	147549297	rs556493	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	6q24.3	STXBP5, YAP1P1	rs556493-A	0.46	1E-6		1.3514	[0.66-0.84]	Illumina [1795103]	N
1711	chr6	147680358	147680359	rs9390459	20231535	Smith NL	2010-03-15	Circulation	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	vWF levels	17,596 European ancestry individuals	Up to 7,604 European ancestry individuals	6q24.3	STXBP5	rs9390459-?	NR	1E-22		4.8	[2.1-7.5] unit decrease	Affymetrix, Illumina [2742821] (imputed)	N
1711	chr6	147701132	147701133	rs9373523	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	6q24.3	NR	rs9373523-?	0.81	1E-6		1.3	[1.11-1.43]	Affymetrix [> 333754] (imputed)	N
1711	chr6	147703298	147703299	rs9399599	24578379	Huang J	2014-02-27	Arterioscler Thromb Vasc Biol	Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.	Plasma plasminogen activator levels	26,217 European ancestry individuals, 712 Orcadian individuals	4,487 European ancestry individuals	6q24.3	STXBP5	rs9399599-T	0.54	3E-14		0.032	[0.024-0.04] unit increase	Affymetrix, Illumina [2455857] (imputed)	N
1712	chr6	147759533	147759534	rs9403856	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q24.3	NR	rs9403856-C	0.86167473954116	4E-7	(IGP12)	0.3492	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
1712	chr6	147759533	147759534	rs9403856	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q24.3	NR	rs9403856-C	0.861471281137184	7E-7	(IGP73)	0.341	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
1712	chr6	147759533	147759534	rs9403856	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q24.3	NR	rs9403856-C	0.861277425090253	2E-6	(IGP52)	0.3292	[0.19-0.46] unit increase	Illumina [~ 2500000] (imputed)	N
1713	chr6	147934946	147934947	rs9377063	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q24.3	SAMD5	rs9377063-A	0.259	8E-6	(Urinary free dopamine: creatinine)	0.04	[NR] unit increase	Illumina [899892]	N
1713	chr6	147971573	147971574	rs1302019	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		6q24.3	intergenic	rs1302019-?	0.022	2E-23			[NR]	Affymetrix, Illumina [152234]	N
1717	chr6	148423370	148423371	rs9390537	20061627	Heinzen EL	2009-09-11	J Alzheimers Dis	Genome-wide scan of copy number variation in late-onset Alzheimer's disease.	Alzheimer's disease	331 European ancestry cases, 368 European ancestry controls	NA	6q24.3	SASH1	rs9390537-?	0.22	8E-6				Illumina [~ 550000]	N
1718	chr6	148521291	148521292	rs9497965	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6q24.3	SASH1	rs9497965-T	0.415	3E-8	(TSH - Females)	0.067	[0.043-0.091] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1718	chr6	148521291	148521292	rs9497965	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6q24.3	SASH1	rs9497965-T	0.415	2E-8	(TSH)	0.051	[0.033-0.069] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1718	chr6	148547801	148547802	rs9497975	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6q24.3	intergenic	rs9497975-?	NR	7E-8	(progression)			Illumina [NR]	N
1719	chr6	148704953	148704954	rs6930576	21150874	McDonough CW	2010-12-08	Kidney Int	A genome-wide association study for diabetic nephropathy genes in African Americans.	Type 2 diabetes nephropathy	965 African American cases, 1,029 African American controls	709 African American cases, 690 African American controls	6q24.3	SASH1	rs6930576-A	0.28	7E-7		1.31	[1.18-1.45]	Affymetrix [832357]	N
1720	chr6	148787158	148787159	rs12527089	26350878	Tashjian RZ	2015-09-05	J Shoulder Elbow Surg	Genome-wide association study for rotator cuff tears identifies two significant single-nucleotide polymorphisms.	Rotator cuff tears	311 European ancestry cases, 2,641 European ancestry controls	NA	6q24.3	SASH1	rs12527089-?	NR	2E-7				Illumina [257558]	N
1720	chr6	148788005	148788006	rs6930337	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6q24.3	SASH1	rs6930337-?	0.06	1E-6	(insulin)			Illumina [496032]	N
1720	chr6	148841751	148841752	rs1147857	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking quantity	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	6q25.1	NR	rs1147857-?		2E-6				Illumina [1211988] (imputed)	N
1721	chr6	148923788	148923789	rs13196614	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	6q25.1	intergenic	rs13196614-T	0.18	5E-6		1.08	[1.04-1.11]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1722	chr6	149059290	149059291	rs190298731	25027321	Hoffmann TJ	2014-07-15	Hum Mol Genet	Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.	Glaucoma	658 African American prevalent cases, 1,062 African American incident cases, 6,067 African American controls, 153 Hispanic prevalent cases, 336 Hispanic incident cases, 2,685 Hispanic controls	NA	6q25.1	NR	rs190298731-T	0.082	3E-8	(Hispanic, incident)	2.3	[1.71-3.09]	Affymetrix [up to 15784307] (imputed)	N
1722	chr6	149059290	149059291	rs190298731	25027321	Hoffmann TJ	2014-07-15	Hum Mol Genet	Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.	Glaucoma	658 African American prevalent cases, 1,062 African American incident cases, 6,067 African American controls, 153 Hispanic prevalent cases, 336 Hispanic incident cases, 2,685 Hispanic controls	NA	6q25.1	NR	rs190298731-T	0.082	1E-6	(Hispanic)	1.92	[1.47-2.49]	Affymetrix [up to 15784307] (imputed)	N
1722	chr6	149113145	149113146	rs35751268	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	6q25.1	NR	rs35751268-T	NR	7E-6		0.23	[0.13-0.33] unit increase	NR [5896100] (imputed)	N
1723	chr6	149270828	149270829	rs13219957	23620144	Sulkava S	2013-04-29	Hum Mol Genet	Genome-wide scan of job-related exhaustion with three replication studies implicate a susceptibility variant at the UST gene locus.	Job-related exhaustion	1,256 European ancestry individuals	13,864 European ancestry individuals	6q25.1	UST	rs13219957-A	0.144	7E-7		0.081	[0.050-0.112] unit increase	Illumina [555388]	N
1724	chr6	149329266	149329267	rs2500535	20360315	Uher R	2010-04-01	Am J Psychiatry	Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.	Response to antidepressants	706 European ancestry individuals	NA	6q25.1	UST	rs2500535-A	0.06	9E-6	(genotype x drug)	29.7	[NR] unit decrease	Illumina [539391]	N
1724	chr6	149329266	149329267	rs2500535	20360315	Uher R	2010-04-01	Am J Psychiatry	Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.	Response to antidepressants	706 European ancestry individuals	NA	6q25.1	UST	rs2500535-A	0.06	4E-8	(nortriptyline)	27.0	[NR] unit decrease	Illumina [539391]	N
1724	chr6	149357546	149357547	rs10457838	25456346	Nievergelt CM	2014-10-30	Psychoneuroendocrinology	Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.	Post-traumatic stress disorder	940 European, Hispanic, Native American, African American, East Asian and other ancestry cases, 2,554 European, Hispanic, Native American, African American, East Asian and other ancestry trauma-exposed controls	313 European ancestry cases, 178 European ancestry trauma-exposed controls	6q25.1	UST	rs10457838-C	0.724	2E-6	(African American)	6.702	[5.93-7.48]	Illumina [21693469] (imputed)	N
1725	chr6	149435110	149435111	rs7772697	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	6q25.1	MAP3K7IP2, LOC729200	rs7772697-T	0.58	3E-6		1.35	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
1725	chr6	149525605	149525606	rs636864	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	6q25.1	intergenic	rs636864-?	0.21	6E-6	(RBCC)			Affymetrix [70897]	N
1726	chr6	149577078	149577079	rs7758080	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q25.1	MAP3K7IP2	rs7758080-G	0.2694	1E-7	(EA)	1.0597305	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1726	chr6	149577078	149577079	rs7758080	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q25.1	MAP3K7IP2	rs7758080-G	0.2694	7E-9	(EA)	1.0790637	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1726	chr6	149593919	149593920	rs727979	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	6q25.1	MAP3K7IP2	rs727979-?	0.14	8E-6	(RBCC)			Affymetrix [70897]	N
1726	chr6	149608873	149608874	rs9485372	22383897	Long J	2012-02-23	PLoS Genet	Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.	Breast cancer	2,918 Chinese ancestry cases, 2,324 Chinese ancestry controls	up to 16,173 East Asian ancestry cases, up to 18,282 East Asian ancestry controls	6q25.1	TAB2	rs9485372-G	0.55	4E-12		1.11	[1.09-1.15]	Affymetrix [690947]	N
1727	chr6	149762536	149762537	rs2179367	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	6q25.1	ZC3H12D, TAB2	rs2179367-G	0.42	3E-7		1.23	[1.14-1.32]	Illumina [234939]	N
1728	chr6	149834573	149834574	rs9373594	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q25.1	PPIL4	rs9373594-T	0.63	3E-9		1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1728	chr6	149834573	149834574	rs9373594	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q25.1	PPIL4	rs9373594-T	0.33	5E-8	(East Asian)	1.11	[1.07-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1731	chr6	150298841	150298842	rs1853665	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	6q25.1	ULBP1	rs1853665-?	0.34	7E-6				Affymetrix, Illumina [1348798]	N
1732	chr6	150358011	150358012	rs9479482	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	6q25.1	ULBP3, ULBP6	rs9479482-A	0.57	4E-19		1.65	[1.48-1.83]	Illumina [463301]	N
1732	chr6	150380883	150380884	rs78546022	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/5-HIAA ratio)	up to 398 European ancestry individuals	NA	6q25.1	ULBP3	rs78546022-G		4E-6		0.2221	unit increase	Illumina [5767231] (imputed)	N
1733	chr6	150570866	150570867	rs3734729	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6q25.1	PPP1R1	rs3734729-A	NR	7E-7	(FEV1, Pack-years)			NR [~ 2500000] (imputed)	N
1733	chr6	150570866	150570867	rs3734729	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6q25.1	PPP1R1	rs3734729-A	NR	4E-7	(FEV1, Ever-smoking)			NR [~ 2500000] (imputed)	N
1733	chr6	150570866	150570867	rs3734729	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6q25.1	PPP1R14C	rs3734729-G	NR	4E-6	(FEV1)	0.055	[0.031-0.079] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1734	chr6	150651899	150651900	rs1591830	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	6q25.1	C6orf71	rs1591830-?	0.32	1E-7	(sugar)			Affymetrix [187454]	N
1734	chr6	150702846	150702847	rs670292	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6q25.1	IYD	rs670292-C	0.466	2E-6	(Temperament)	0.13	[NR] unit increase	Affymetrix [677643]	N
1735	chr6	150744836	150744837	rs4869908	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	6q25.1	NR	rs4869908-G	NR	8E-6	(phenotype 1)	2.5	[NR]	Illumina [> 8000000] (imputed)	N
1736	chr6	150913960	150913961	rs9372078	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	6q25.1	PLEKHG1	rs9372078-?	0.11	5E-7				Affymetrix [253903]	N
1737	chr6	151004769	151004770	rs17080102	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	6q25.1	PLEKHG1	rs17080102-C	0.1	5E-8	(SBP)	1.02	[0.53-1.51] unit decrease	Affymetrix, Illumina [~ 2420000] (imputed)	N
1737	chr6	151004769	151004770	rs17080102	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	6q25.1	PLEKHG1	rs17080102-C	0.1	2E-11	(DBP)	0.74	[0.45-1.03] unit decrease	Affymetrix, Illumina [~ 2420000] (imputed)	N
1737	chr6	151009888	151009889	rs4869931	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	6q25.1	PLEKHG1	rs4869931-A	0.47	8E-6		1.21	[0.68-1.74] mmHg increase	Illumina [1019297] (imputed)	N
1737	chr6	151102829	151102830	rs75253868	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		6q25.1	PLEKHG1	rs75253868-?	0.03	2E-6		0.26	unit decrease	Illumina [NR] (imputed)	N
1737	chr6	151125250	151125251	rs10046456	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q25.1	PLEKHG1	rs10046456-A	0.04	3E-6	(Moderate&vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1737	chr6	151125250	151125251	rs10046456	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q25.1	PLEKHG1	rs10046456-A	0.04	3E-6	(Moderate activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1737	chr6	151125250	151125251	rs10046456	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q25.1	PLEKHG1	rs10046456-A	0.04	2E-6	(Moderate activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1738	chr6	151163114	151163115	rs17427389	22488850	Zuo L	2012-04-04	Am J Med Genet B Neuropsychiatr Genet	Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls, 449 African American cases, 480 African American controls	NA	6q25.1	PLEKHG1	rs17427389-?	NR	1E-6				Illumina [805814]	N
1738	chr6	151207077	151207078	rs11754661	20885792	Naj AC	2010-09-23	PLoS Genet	Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.	Alzheimer's disease (late onset)	931 cases, 1,104 controls	1,338 cases, 2,003 controls	6q25.1	MTHFD1L	rs11754661-A	0.07	2E-10		2.1	[1.67-2.64]	Illumina [483399]	N
1738	chr6	151252984	151252985	rs6922269	17634449	Samani NJ	2007-07-18	N Engl J Med	Genomewide association analysis of coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	875 European ancestry cases, 1,644 European ancestry controls	6q25.1	MTHFD1L	rs6922269-A	0.25	3E-8		1.23	[1.15-1.33]	Affymetrix [377857]	N
1739	chr6	151314840	151314841	rs524732	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q25.1	NR	rs524732-A	NR	1E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1740	chr6	151456592	151456593	rs9478961	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	6q25.1	MTHFD1L, AKAP12	rs9478961-?	NR	2E-7		0.44	[0.28-0.60] unit increase	Illumina [1075436] (imputed)	N
1743	chr6	151803753	151803754	rs6933660	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6q25.1	ESR1	rs6933660-C	0.69	1E-9		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1743	chr6	151895455	151895456	rs6909279	23437003	Paternoster L	2013-02-21	PLoS Genet	Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.	Bone mineral density	up to 5,878 European ancestry individuals	up to 1,052 European ancestry individuals	6q25.1	ESR1, C6orf97	rs6909279-G	0.40	1E-9	(Cortical vBMD)	0.09	[0.070-0.110] unit decrease	Illumina [2401124] (imputed)	N
1743	chr6	151898505	151898506	rs1871859	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	6q25.1	C6orf97	rs1871859-?	NR	9E-13	(spine)			Affymetrix, Illumina [5842825] (imputed)	N
1743	chr6	151901408	151901409	rs4870044	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	6q25.1	ESR1	rs4870044-T	0.28	2E-11		0.11	[0.08-0.14] s.d. decrease	Illumina [301019]	N
1743	chr6	151901408	151901409	rs4870044	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (hip)	5,861 European ancestry individuals	7,925 European ancestry individuals	6q25.1	ESR1, C6orf97	rs4870044-T	0.28	2E-7		0.08	[0.05-0.11] s.d. decrease	Illumina [301019]	N
1743	chr6	151901801	151901802	rs4869739	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	6q25.1	ESR1, CCDC170	rs4869739-T	0.33	3E-18	(VOS)	0.07	[0.06-0.09] unit decrease	Affymetrix, Illumina [up to 2609590] (imputed)	N
1743	chr6	151907747	151907748	rs4869742	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	6q25.1	C6orf97	rs4869742-T	0.31	4E-35	(LSBMD)	0.08	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1743	chr6	151907747	151907748	rs4869742	21540461	Kim DH	2011-05-03	Blood	A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.	Chronic myeloid leukemia	201 Korean ancestry cases, 497 Korean ancestry controls	237 Korean ancestry cases, 1,000 Korean ancestry controls, 232 European ancestry cases, 576 European ancestry controls	6q25.1	AKAP12, ZBTB2, MTHFD1L, RMND1, C6orf211, ESR1, C6orf97	rs4869742-T	0.77	2E-6		1.67	[1.35-2.04]	Affymetrix [456522]	N
1744	chr6	151914112	151914113	rs3757318	24325915	Purrington KS	2013-12-09	Carcinogenesis	Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.	Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative)	1,529 European ancestry cases, 3,399 European ancestry controls	2,148 European ancestry cases, 1,309 European ancestry controls	6q25.1	ESR1	rs3757318-A		9E-6		1.33	[1.17-1.51]	Illumina [NR] (imputed)	N
1744	chr6	151914112	151914113	rs3757318	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	6q25.1	ESR1	rs3757318-A	0.07	2E-21		1.16	[1.12-1.21]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1744	chr6	151914112	151914113	rs3757318	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	6q25.1	ESR1, C6orf97	rs3757318-A	0.07	3E-6		1.3	[1.17-1.46]	Illumina [582886]	N
1744	chr6	151933174	151933175	rs1038304	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (hip)	6,865 European ancestry individuals	8,510 European ancestry individuals	6q25.1	ESR1	rs1038304-G	0.47	4E-10		0.08	[0.06-0.11] s.d. decrease	Illumina [305051]	N
1744	chr6	151933174	151933175	rs1038304	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	6q25.1	ESR1, C6orf97	rs1038304-G	0.47	4E-11		0.1	[0.07-0.13] s.d. decrease	Illumina [301019]	N
1744	chr6	151933174	151933175	rs1038304	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (hip)	5,861 European ancestry individuals	7,925 European ancestry individuals	6q25.1	ESR1	rs1038304-G	0.47	5E-9		0.08	[0.06-0.11] s.d. decrease	Illumina [301019]	N
1744	chr6	151936676	151936677	rs6929137	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (spine)	6,865 European ancestry individuals	8,510 European ancestry individuals	6q25.1	ESR1, C6orf97	rs6929137-A	0.30	2E-10		0.1	[0.07-0.13] s.d. decrease	Illumina [305051]	N
1744	chr6	151939349	151939350	rs3734805	21263130	Fletcher O	2011-01-24	J Natl Cancer Inst	Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.	Breast cancer	2,839 European ancestry cases, 3,507 European ancestry controls	9,041 European ancestry cases, 8,980 European ancestry controls	6q25.1	ESR1	rs3734805-C	0.08	1E-7		1.19	[1.11-1.27]	Illumina [~ 296114]	N
1744	chr6	151946628	151946629	rs12665607	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	6q25.1	ESR1	rs12665607-A	0.08	2E-8		0.17	[0.092-0.248] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1744	chr6	151948365	151948366	rs2046210	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Breast Cancer in BRCA1 mutation carriers	1,426 European ancestry cases, 1,301 European ancestry controls	6,031 European ancestry cases, 5,933 European ancestry controls	6q25.1	intergenic	rs2046210-C	0.08	5E-9		1.28	[1.18-1.39]	Illumina [2568349] (imputed)	N
1744	chr6	151948365	151948366	rs2046210	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	6q25.1	ESR1	rs2046210-A	0.423	5E-16		1.15	[1.11-1.19]	Illumina [NR]	N
1744	chr6	151948365	151948366	rs2046210	19219042	Zheng W	2009-02-15	Nat Genet	Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.	Breast cancer	1,505 Chinese ancestry cases, 1,522 Chinese ancestry controls	5,026 Chinese ancestry cases, 2,476 Chinese ancestry controls, 1,591 European ancestry cases, 1,466 European ancestry controls	6q25.1	ESR1, C6orf97	rs2046210-A	0.37	2E-15		1.29	[1.21-1.37]	Affymetrix [up to 607728]	N
1744	chr6	151954833	151954834	rs140068132	25327703	Fejerman L	2014-10-20	Nat Commun	Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.	Breast cancer	1,497 Latino cases, 3,213 Latino controls	1,643 Latino cases, 4,971 Latino controls	6q25.1	ESR1	rs140068132-A	0.93	9E-18		1.67	[1.49-1.89]	Affymetrix, Illumina [7229558] (imputed)	N
1744	chr6	151957713	151957714	rs12173570	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	6q25.1	ESR1, C6orf97	rs12173570-T	0.101	6E-11		0.171	[0.12-0.22] cup size increase	Illumina [7422970] (imputed)	N
1744	chr6	151987356	151987357	rs9383938	22976474	Siddiq A	2012-09-13	Hum Mol Genet	A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.	Breast cancer	3,666 European ancestry cases, 28,864 European ancestry controls, 1,004 African American cases, 2,744 African American controls	562 European ancestry cases, 6,410 European ancestry controls, 84 Japanese ancestry cases, 830 Japanese ancestry controls, 300 Latino cases, 1,164 Latino controls	6q25.1	NR	rs9383938-T	NR	2E-10		1.28	[NR]	Illumina [2608509] (imputed)	N
1744	chr6	152008779	152008780	rs3020331	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	730 East Asian ancestry individuals, 2,380 European ancestry individuals, 11,150 individuals	11,058 European ancestry individuals, 2,870 European and other ancestry individuals, 21,439 individuals	6q25.1	ESR1	rs3020331-T	0.43	3E-9	(BUA)	0.06	[0.04-0.07] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
1744	chr6	152008779	152008780	rs3020331	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	6q25.1	ESR1	rs3020331-T	0.42	7E-15	(VOS)	0.07	[0.05-0.08] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
1744	chr6	152009637	152009638	rs2941740	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	6q25.1	ESR1	rs2941740-G	0.43	2E-10		0.07	[0.05-0.09] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
1745	chr6	152059562	152059563	rs2982552	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	730 East Asian ancestry individuals, 2,380 European ancestry individuals, 11,150 individuals	11,058 European ancestry individuals, 2,870 European and other ancestry individuals, 21,439 individuals	6q25.1	ESR1, CCDC170	rs2982552-G	0.46	2E-10	(BUA)	0.05	[0.04-0.07] unit decrease	Affymetrix, Illumina [up to 2609590] (imputed)	N
1745	chr6	152068363	152068364	rs1999805	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	6q25.1	ESR1, C6orf97	rs1999805-C	0.44	2E-8		0.09	[0.06-0.12] s.d. decrease	Illumina [301019]	N
1745	chr6	152080831	152080832	rs60945108	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q25.1	ESR1	rs60945108-A	0.0090	3E-6	(Light activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1745	chr6	152090706	152090707	rs2504063	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	6q25.1	ESR1	rs2504063-A	0.40	6E-11		0.08	[0.06-0.10] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
1745	chr6	152110942	152110943	rs543650	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q25.1	ESR1	rs543650-T	0.4	1E-17		0.034	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1745	chr6	152157880	152157881	rs6902771	19581569	Treutlein J	2009-07-01	Arch Gen Psychiatry	Genome-wide association study of alcohol dependence.	Alcohol dependence	476 European ancestry cases, 1,358 European ancestry controls	1,024 European ancestry cases, 996 European ancestry controls	6q25.1	ESR1	rs6902771-C	0.51	8E-6		1.24	[1.13-1.36]	Illumina [524396]	N
1746	chr6	152285686	152285687	rs2982694	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	6q25.1	ESR1	rs2982694-?	0.14	7E-10	(Recessive)	1.43	[1.28-1.60]	Affymetrix [319222]	N
1746	chr6	152295612	152295613	rs9383951	22383897	Long J	2012-02-23	PLoS Genet	Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.	Breast cancer	2,918 Chinese ancestry cases, 2,324 Chinese ancestry controls	up to 16,173 East Asian ancestry cases, up to 18,282 East Asian ancestry controls	6q25.1	ESR1	rs9383951-G	0.90	2E-6		1.14	[1.08-1.19]	Affymetrix [690947]	N
1747	chr6	152345161	152345162	rs3020418	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q25.1	ESR1	rs3020418-A	0.296	8E-24		0.032	[0.026-0.038] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1747	chr6	152358178	152358179	rs2982712	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6q25.1	ESR1	rs2982712-C	0.47	4E-10		1.17	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1748	chr6	152468383	152468384	rs2813490	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	6q25.2	NR	rs2813490-?		7E-6		0.27	unit decrease	Illumina [1211988] (imputed)	N
1750	chr6	152738753	152738754	rs17082664	20351715	Liu Y	2010-03-30	Mol Psychiatry	Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.	Bipolar disorder or major depressive disorder (combined)	4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls	NA	6q25.2	SYNE1	rs17082664-?	NR	1E-6				Affymetrix, Perlegen [1472580] (imputed)	N
1750	chr6	152738753	152738754	rs17082664	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	6q25.2	NR	rs17082664-G	0.13	4E-6		1.22	[NR]	Affymetrix [1769948] (imputed)	N
1750	chr6	152790572	152790573	rs9371601	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6q25.2	SYNE1	rs9371601-?	0.346	4E-9	(Modelling analysis)			NR [1252901] (imputed)	N
1750	chr6	152790572	152790573	rs9371601	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	6q25.2	SYNE1	rs9371601-T	NR	7E-7		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
1750	chr6	152791473	152791474	rs7747960	21738484	Smith EN	2011-06-30	PLoS Genet	Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.	Bipolar disorder	1,190 European and unknown ancestry cases, 401 European and unknown ancestry controls	16,179 individuals	6q25.2	SYNE1	rs7747960-A	NR	9E-6		1.23	[NR]	Affymetrix [703019]	N
1751	chr6	152947952	152947953	rs1322512	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	6q25.2	SYNE1	rs1322512-?	NR	8E-6	(MAP)			Affymetrix [70897]	N
1754	chr6	153265209	153265210	rs13218732	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	6q25.2	intergenic	rs13218732-?	0.97	3E-6		1.16	[1.09-1.23]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1755	chr6	153441078	153441079	rs1933488	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	6q25.2	RGS17, FBXO5, MTRF1L	rs1933488-A	0.59	4E-18		1.12	[1.09-1.15]	Illumina [~ 2600000] (imputed)	N
1757	chr6	153620555	153620555	rs10649162	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	6q25.2	RGS17	rs10649162-?	NR	5E-6		1.2658228	[1.17-1.36]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
1757	chr6	153719984	153719985	rs12198650	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	6q25.2	NR	rs12198650-?	NR	7E-6		16.64	[9.68-23.6] unit decrease	Illumina [498648]	N
1759	chr6	154004970	154004971	rs2186141	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	6q25.2	intergenic	rs2186141-?	0.56	4E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1760	chr6	154077192	154077193	rs1937579	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	6q25.2	C6orf10	rs1937579-T	0.85	3E-6	(AA)	0.19	[0.11-0.27] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1761	chr6	154234866	154234867	rs6900489	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	6q25.2	LOC729635	rs6900489-C		5E-6		0.06	[0.03-0.08] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1763	chr6	154414562	154414563	rs675026	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Hypertension	4,069 African American cases, 3,848 African American controls	1,372 African American cases, 1,482 African American controls	6q25.2	OPRM1	rs675026-?	0.72	5E-6		1.2033695	[1.11-1.3]	Affymetrix [~ 2740000] (imputed)	N
1763	chr6	154452536	154452537	rs538174	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	6q25.2	NR	rs538174-C	NR	5E-6	(phenotype 1)	2.44	[NR]	Illumina [> 8000000] (imputed)	N
1763	chr6	154452536	154452537	rs538174	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	6q25.2	NR	rs538174-C	NR	5E-6	(phenotype 3)	2.44	[NR]	Illumina [> 8000000] (imputed)	N
1763	chr6	154478439	154478440	rs2236256	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	6q25.2	IPCEF1	rs2236256-C		2E-10		1.23	[1.15-1.30]	Illumina [450000] (imputed)	N
1765	chr6	154726987	154726988	rs2275336	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	6q25.2	CNKSR3	rs2275336-?	NR	9E-7		1.36	[NR]	Illumina [2500000] (imputed)	N
1767	chr6	154986663	154986664	rs9397738	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	6q25.2	CNKSR3, RBM16	rs9397738-G	0.22	5E-6		0.0039	[0.0021-0.0057] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
1772	chr6	155648494	155648495	rs9478638	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	6q25.3	intergenic	rs9478638-?	NR	8E-6	(Beta power, Cz)	0.079	[0.044-0.114] unit increase	Illumina [527829]	N
1772	chr6	155648494	155648495	rs9478638	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	6q25.3	intergenic	rs9478638-?	NR	5E-7	(Alpha power, occipital)	0.158	[0.097-0.219] unit increase	Illumina [527829]	N
1772	chr6	155712444	155712445	rs162990	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	6q25.3	intergenic	rs162990-?	NR	4E-6	(Beta power, Cz)	0.087	[0.05-0.124] unit increase	Illumina [527829]	N
1774	chr6	155929800	155929801	rs35229355	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	6q25.3	intergenic	rs35229355-T	NR	5E-6		7.24	[2.46-21.30]	Affymetrix [476796]	N
1775	chr6	156004662	156004663	rs956096	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q25.3	NR	rs956096-A	NR	8E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1776	chr6	156150732	156150733	rs17086702	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	intergenic	rs17086702-?	NR	4E-9				Affymetrix [~ 2500000] (imputed)	N
1776	chr6	156197501	156197502	rs4269383	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	6q25.3	ARID1B	rs4269383-C	NR	7E-7		1.2	[1.12-1.30]	Affymetrix [666141]	N
1776	chr6	156234521	156234522	rs9371942	25985088	Oguchi T	2015-05-18	PLoS One	Investigation of susceptibility genes triggering lachrymal/salivary gland lesion complications in Japanese patients with type 1 autoimmune pancreatitis.	Lachrymal/Salivary gland lesion in type 1 autoimmune pancreatitis	50 Japanese ancestry cases with lesions, 53 Japanese ancestry cases without lesions	NA	6q25.3	LOC101928923	rs9371942-A	NR	4E-7		5.0	[2.38-10]	Affymetrix [12033]	N
1777	chr6	156337303	156337304	rs17086954	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Early childhood aggressive behavior	15,668 European ancestry individuals	NA	6q25.3	LOC101928923	rs17086954-A	0.68	6E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
1777	chr6	156345145	156345146	rs1449672	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6q25.3	NR	rs1449672-T	0.4302	5E-6	(Cis/trans-18:2, EA)	0.002	[0.0012-0.0028] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1777	chr6	156349184	156349185	rs1026153	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6q25.3	NR	rs1026153-A	0.5721	5E-6	(Cis/trans-18:2, EA)	0.002	[0.0012-0.0028] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1778	chr6	156384966	156384967	rs17087007	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	intergenic	rs17087007-?	NR	2E-8				Affymetrix [~ 2500000] (imputed)	N
1779	chr6	156588019	156588020	rs17087282	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	6q25.3	LOC101928923	rs17087282-?		2E-6	(overall survival)	2.47	[1.71-3.56]	Illumina [729737]	N
1780	chr6	156657841	156657842	rs12213468	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q25.3	NR	rs12213468-G	0.655773469069871	7E-6	(IGP8)	0.1455	[0.082-0.209] unit decrease	Illumina [~ 2500000] (imputed)	N
1782	chr6	156913011	156913012	rs2817461	23834954	Kobayashi D	2013-07-08	Mol Pain	Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.	Sensory disturbances after bilateral sagittal split ramus osteotomy	Up to 105 individuals	Up to 200 individuals	6q25.3	ARID1B	rs2817461-?	NR	4E-8	(Hypoesthesia, Recessive)			Illumina [243229]	N
1782	chr6	156916765	156916766	rs9384478	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	intergenic	rs9384478-?	NR	7E-9				Affymetrix [~ 2500000] (imputed)	N
1782	chr6	157009380	157009381	rs9384488	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	6q25.3	ARID1B	rs9384488-A	0.35	3E-6	(Cortical Ab)			Illumina [6108668] (imputed)	N
1783	chr6	157128256	157128257	rs11967485	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	6q25.3	ARID1B	rs11967485-A	0.1	9E-7		0.026	[0.016-0.036] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1784	chr6	157195979	157195980	rs2063714	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	6q25.3	NR	rs2063714-G	0.424	1E-7	(EA)	0.052	[0.032-0.072] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1784	chr6	157216038	157216039	rs184074	25881214	Shah AA	2015-02-27	Heart Surg Forum	Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.	Vein graft stenosis in coronary artery bypass grafting	361 European ancestry cases, 160 European ancestry controls	NA	6q25.3	ARID1B	rs184074-A	0.45	6E-6				Illumina [905781]	N
1790	chr6	158041282	158041283	rs2163287	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	6q25.3	ZDHHC14	rs2163287-A	0.02	3E-6	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
1792	chr6	158219012	158219013	rs9356009	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	intergenic	rs9356009-?	NR	4E-19				Affymetrix [~ 2500000] (imputed)	N
1792	chr6	158263455	158263456	rs9346930	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	SNX9	rs9346930-?	NR	5E-17				Affymetrix [~ 2500000] (imputed)	N
1793	chr6	158371083	158371084	rs9347800	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	intergenic	rs9347800-?	NR	2E-16				Affymetrix [~ 2500000] (imputed)	N
1793	chr6	158389740	158389741	rs9458975	22823124	Verweij KJ	2012-07-24	Addict Biol	The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.	Cannabis use (initiation)	10,091 individuals from 4,622 families	NA	6q25.3	SYNJ2	rs9458975-T	0.45	7E-6		0.026	unit increase	Illumina [~ 2400000] (imputed)	N
1793	chr6	158435571	158435572	rs9365723	23300701	Jiao S	2012-12-26	PLoS One	Genome-wide search for gene-gene interactions in colorectal cancer.	Colorectal cancer	8,380 European ancestry cases, 10,558 European ancestry controls	2,527 European ancestry cases, 2,628 European ancestry controls	6q25.3	intergenic	rs9365723-?	0.57	4E-6	(rs6687758, known)	1.27	[1.15-1.41]	Illumina [2011668]	N
1794	chr6	158533559	158533560	rs2475553	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	SERAC1	rs2475553-?	NR	2E-8				Affymetrix [~ 2500000] (imputed)	N
1795	chr6	158607472	158607473	rs4560672	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking quantity	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	6q25.3	NR	rs4560672-?		8E-6				Illumina [1211988] (imputed)	N
1795	chr6	158722033	158722034	rs1832871	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6q25.3	TULP4	rs1832871-A	0.337	2E-15		0.025	[0.019-0.031] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1797	chr6	158929441	158929442	rs9456307	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6q25.3	TULP4	rs9456307-A	0.06	2E-9		0.048	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1797	chr6	158958105	158958106	rs930451	25475840	Colodro-Conde L	2014-12-05	Twin Res Hum Genet	A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan.	Breastfeeding duration	1,521 mothers from 1,073 families	NA	6q25.3	OXER1, HAAO, MTA3	rs930451-?	NR	1E-6		0.204	[0.12-0.29] unit decrease	Illumina [6590000] (imputed)	N
1800	chr6	159331259	159331260	rs78995442	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6q25.3	NR	rs78995442-?	NR	5E-6	(AA)	0.6532	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1800	chr6	159335250	159335251	rs9457516	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	intergenic	rs9457516-?	NR	6E-9				Affymetrix [~ 2500000] (imputed)	N
1800	chr6	159368523	159368524	rs12216499	24662972	Figueroa JD	2014-03-24	Carcinogenesis	Genome-wide interaction study of smoking and bladder cancer risk.	Bladder cancer (smoking interaction)	560 European ancestry never smoker cases, 2,442 European ancestry ever smoker cases, 1,406 European ancestry never smoker controls, 3,005 European ancestry ever smoker controls	494 European ancestry never smoker cases, 1,927 European ancestry ever smoker cases, 2,257 European ancestry never smoker controls, 3,490 European ancestry ever smoker controls	6q25.3	TAGAP, RSPH3, EZR	rs12216499-?	NR	1E-6	(additive, prospective analysis)			Illumina [491011]	N
1801	chr6	159432565	159432566	rs17830011	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	intergenic	rs17830011-?	NR	5E-9				Affymetrix [~ 2500000] (imputed)	N
1801	chr6	159463451	159463452	rs926657	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	TAGAP	rs926657-?	NR	5E-9				Affymetrix [~ 2500000] (imputed)	N
1801	chr6	159465976	159465977	rs1738074	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6q25.3	TAGAP	rs1738074-C	0.58	4E-7		1.15	[NR]	Affymetrix, Illumina [2529394]	N
1801	chr6	159465976	159465977	rs1738074	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	6q25.3	TAGAP	rs1738074-G	NR	7E-15		1.13	[1.12-1.15]	Illumina [465434]	N
1801	chr6	159465976	159465977	rs1738074	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6q25.3	TAGAP	rs1738074-A	0.43	3E-15		1.16	[1.12-1.21]	Illumina [292387]	N
1801	chr6	159465976	159465977	rs1738074	18311140	Hunt KA	2008-03-02	Nat Genet	Newly identified genetic risk variants for celiac disease related to the immune response.	Celiac disease	767 European ancestry cases, 1,422 European ancestry controls	1,643 European ancestry cases, 3,406 European ancestry controls	6q25.3	TAGAP	rs1738074-A	NR	7E-8		1.21	[1.13-1.30]	Illumina [310605]	N
1801	chr6	159472294	159472295	rs212402	24999842	Garner C	2014-07-07	PLoS One	Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.	Celiac disease	1,550 European ancestry cases, 3,084 European ancestry controls	NA	6q25.3	TAGAP	rs212402-?		8E-9		1.31	[1.20-1.44]	Illumina [517345]	N
1801	chr6	159490435	159490436	rs212388	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q25.3	NR	rs212388-G	0.3957	2E-7	(EA)	1.0551589	[1.03-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1801	chr6	159490435	159490436	rs212388	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q25.3	NR	rs212388-G	0.3957	2E-16	(EA)	1.1078008	[1.08-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1801	chr6	159490435	159490436	rs212388	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6q25.3	TAGAP	rs212388-C	0.41	3E-14		1.105	[1.069-1.141]	Affymetrix, Illumina [1230000] (imputed)	N
1801	chr6	159490435	159490436	rs212388	21298027	Festen EA	2011-01-27	PLoS Genet	A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.	Crohn's disease and celiac disease	3,230 European ancestry Crohn's disease cases, 768 European ancestry celiac disease cases, 6,251 European ancestry controls	1,835 European ancestry Crohn's disease cases, 3,149 European ancestry celiac disease cases, 6,383 European ancestry controls	6q25.3	TAGAP	rs212388-C	NR	2E-10	(combined)			Affymetrix, Illumina [471504]	N
1801	chr6	159490435	159490436	rs212388	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6q25.3	TAGAP	rs212388-G	0.393	2E-11		1.1	[1.05-1.14]	Affymetrix, Illumina [953241] (imputed)	N
1801	chr6	159506599	159506600	rs2451258	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q25.3	TAGAP	rs2451258-T	0.74	3E-11		1.1	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1801	chr6	159506599	159506600	rs2451258	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q25.3	TAGAP	rs2451258-T	0.64	2E-10	(EA)	1.1	[1.07-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1802	chr6	159629044	159629045	rs294914	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	FNDC1	rs294914-?	NR	2E-11				Affymetrix [~ 2500000] (imputed)	N
1803	chr6	159646332	159646333	rs365302	21606135	Wild PS	2011-05-23	Circ Cardiovasc Genet	A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.	Coronary heart disease	2,078 European ancestry cases, 2,953 European ancestry controls	19,350 European ancestry cases, 35,408 European ancestry controls	6q25.3	FNDC1	rs365302-C	0.24	8E-7		1.11	[1.06-1.15]	Affymetrix [608247]	N
1804	chr6	159801023	159801024	rs1544167	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q25.3	intergenic	rs1544167-?	NR	4E-10				Affymetrix [~ 2500000] (imputed)	N
1806	chr6	160071158	160071159	rs2842992	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6q25.3	SOD2	rs2842992-?	0.203	3E-7		1.43	[1.25-1.64]	Affymetrix, Illumina [6036699] (imputed)	N
1806	chr6	160137686	160137687	rs4516970	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	6q25.3	WTAP	rs4516970-?	NR	1E-6	(serum ferritin)			Illumina [315887]	N
1808	chr6	160402704	160402705	rs6917747	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Brain lesion load	791 European ancestry cases, 883 European ancestry controls	NA	6q25.3	IGF2R	rs6917747-?	0.15	7E-6			[NR]	Illumina [551642]	N
1809	chr6	160459190	160459191	rs78797168	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	6q25.3	IGF2R	rs78797168-A	0.93	2E-6	(Age 20-60 years)	1.75	[1.39-2.22]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1809	chr6	160543147	160543148	rs12208357	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	6q25.3	LPA	rs12208357-T	0.06	9E-14		0.092	[0.068-0.116] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1810	chr6	160564475	160564476	rs662138	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6q25.3	SLC22A1	rs662138-C	0.83	9E-25	(X-11261)	0.063	[0.051-0.075] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1810	chr6	160564475	160564476	rs662138	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6q25.3	SLC22A1	rs662138-C	0.83	5E-49	(isobutyrylcarnitine)	0.077	[0.067-0.087] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1810	chr6	160564475	160564476	rs662138	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6q25.3	SLC22A1	rs662138-C	0.83	3E-14	(propionylcarnitine)	0.021	[0.015-0.027] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1810	chr6	160564475	160564476	rs662138	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6q25.3	SLC22A1	rs662138-C	0.83	1E-22	(X-03056--N-[3-(2-oxopyrrolidin-1-yl)propyl]acetamide)	0.034	[0.026-0.042] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1810	chr6	160564475	160564476	rs662138	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	6q25.3	SLC22A1	rs662138-G	0.163	7E-25	(isobutyrylcarnitine + 3 other traits)	0.155	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1810	chr6	160575984	160575985	rs2297374	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	6q25.3	LPA	rs2297374-C	0.64	5E-6		0.029	[0.017-0.041] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1810	chr6	160578859	160578860	rs1564348	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6q25.3	LPA	rs1564348-C	0.18	3E-21		0.048	[NR] unit increase	NR [NR] (imputed)	N
1810	chr6	160578859	160578860	rs1564348	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6q25.3	LPA	rs1564348-C	0.18	3E-23		0.049	[NR] unit increase	NR [NR] (imputed)	N
1810	chr6	160578859	160578860	rs1564348	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6q25.3	LPA	rs1564348-C	0.17	2E-17		1.95	[1.48-2.42] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1810	chr6	160578859	160578860	rs1564348	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6q25.3	LPA	rs1564348-C	0.17	1E-16		2.18	[1.65-2.71] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1810	chr6	160581373	160581374	rs651164	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	6q25.3	SLC22A1	rs651164-G	NR	2E-10	(conditioned on rs9364554)	1.15	[1.10-1.20]	Illumina [571243]	N
1810	chr6	160581373	160581374	rs651164	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	6q25.3	NR	rs651164-?	NR	2E-9				Illumina [541129]	N
1810	chr6	160581543	160581543	rs4646284	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	6q25.3	SLC22A2, SLC22A1	rs4646284-TG	0.298	1E-19		1.18	[1.14-1.22]	Affymetrix [up to 19977088] (imputed)	N
1810	chr6	160668388	160668389	rs2279463	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	6q25.3	SLC22A2	rs2279463-G	0.12	6E-12	(eGFRcrea)	0.01	[0.009-0.017] ml/min/1.73 m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1810	chr6	160669080	160669081	rs316020	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6q25.3	SLC22A1	rs316020-A	0.09	3E-286	(X-12798/phenylalanine)	0.183	[0.17-0.19] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1810	chr6	160670281	160670282	rs316019	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6q25.3	SLC22A1	rs316019-A	0.09	2E-259	(X-12798)	0.181	[0.17-0.19] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1810	chr6	160681392	160681393	rs3127573	20383145	Chambers JC	2010-04-11	Nat Genet	Genetic loci influencing kidney function and chronic kidney disease.	Creatinine levels	23,812 European ancestry individuals	16,626 European ancestry individuals	6q25.3	SLC22A2	rs3127573-G	0.13	7E-10		1.1	[0.8-1.4] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1811	chr6	160741621	160741622	rs3120139	21900290	Qi Q	2011-09-06	Eur Heart J	Genetic variants, plasma lipoprotein(a) levels, and risk of cardiovascular morbidity and mortality among two prospective cohorts of type 2 diabetes.	Lp (a) levels	1,450 European ancestry individuals	NA	6q25.3	SLC22A3	rs3120139-A	0.13	4E-9		0.32	[0.22-0.42] mg/dL increase	Illumina [~ 2500000] (imputed)	N
1811	chr6	160789295	160789296	rs402219	21493818	Shaw SY	2011-04-21	Circ Cardiovasc Genet	Genetic and clinical correlates of early-outgrowth colony-forming units.	Monocyte early outgrowth colony forming units	1,654 European ancestry individuals	NA	6q25.3	SLC22A, LPAL2, LPA	rs402219-G	0.3	6E-7		0.19	[0.11-0.27] unit increase	Affymetrix [~ 2500000] (imputed)	N
1811	chr6	160824027	160824028	rs2504916	22095909	Lange CM	2011-11-16	Hepatology	Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	707 European ancestry cases	NA	6q25.3	SLC22A3	rs2504916-T	NR	2E-6		0.306	[0.18-0.43] ug/L increase	NR [NR]	N
1812	chr6	160833663	160833664	rs9364554	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	6q25.3	SLC22A3	rs9364554-T	0.279	6E-12		1.14	[1.10-1.18]	Affymetrix [up to 19977088] (imputed)	N
1812	chr6	160833663	160833664	rs9364554	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	6q25.3	SLC22A3	rs9364554-T	0.29	6E-10		1.17	[1.08-1.26]	Illumina [541129]	N
1812	chr6	160840251	160840252	rs7758229	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	6q25.3	SLC22A3	rs7758229-T	0.31	4E-12		1.15	[1.10-1.20]	Illumina [1531807] (imputed)	N
1812	chr6	160840251	160840252	rs7758229	21242260	Cui R	2011-01-17	Gut	Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population.	Colorectal cancer	1,583 Japanese ancestry cases, 1,898 Japanese ancestry controls	4,584 Japanese ancestry cases, 225 Korean ancestry distal cases, 2,973 East Asian ancestry controls	6q25.3	SLC22A3	rs7758229-T	NR	8E-9	(distal colon cancer)	1.28	[1.18-1.39]	Illumina [391749]	N
1812	chr6	160863531	160863532	rs2048327	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	6q25.3	SLC22A3, LPAL2, LPA	rs2048327-C	NR	1E-6		1.07	[1.05-1.10]	Illumina [575000] (imputed)	N
1812	chr6	160863531	160863532	rs2048327	19198611	Tregouet DA	2009-02-08	Nat Genet	Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	7,073 European ancestry cases, 7,325 European ancestry controls	6q25.3	SLC22A3, LPAL2, LPA	rs2048327-?,rs3127599-?,rs7767084-?,rs10755578-?	0.16	1E-9	(CTTG)	1.2	[1.13-1.28]	Affymetrix [~ 500000]	N
1812	chr6	160863531	160863532	rs2048327	19198611	Tregouet DA	2009-02-08	Nat Genet	Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	7,073 European ancestry cases, 7,325 European ancestry controls	6q25.3	SLC22A3, LPAL2, LPA	rs2048327-?,rs3127599-?,rs7767084-?,rs10755578-?	0.02	4E-15	(CCTC)	1.82	[1.57-2.12]	Affymetrix [~ 500000]	N
1812	chr6	160907133	160907134	rs3127599	19198611	Tregouet DA	2009-02-08	Nat Genet	Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	7,073 European ancestry cases, 7,325 European ancestry controls	6q25.3	SLC22A3, LPAL2, LPA	rs2048327-?,rs3127599-?,rs7767084-?,rs10755578-?	0.16	1E-9	(CTTG)	1.2	[1.13-1.28]	Affymetrix [~ 500000]	N
1812	chr6	160907133	160907134	rs3127599	19198611	Tregouet DA	2009-02-08	Nat Genet	Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	7,073 European ancestry cases, 7,325 European ancestry controls	6q25.3	SLC22A3, LPAL2, LPA	rs2048327-?,rs3127599-?,rs7767084-?,rs10755578-?	0.02	4E-15	(CCTC)	1.82	[1.57-2.12]	Affymetrix [~ 500000]	N
1812	chr6	160910516	160910517	rs12214416	21900290	Qi Q	2011-09-06	Eur Heart J	Genetic variants, plasma lipoprotein(a) levels, and risk of cardiovascular morbidity and mortality among two prospective cohorts of type 2 diabetes.	Lp (a) levels	1,450 European ancestry individuals	NA	6q25.3	LPAL2	rs12214416-A	0.04	5E-8		0.5	[0.32-0.68] mg/dL decrease	Illumina [~ 2500000] (imputed)	N
1813	chr6	160960358	160960359	rs6919346	19124843	Ober C	2009-01-07	J Lipid Res	Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q.	Lp (a) levels	357 Hutterite individuals	1,054 European ancestry males	6q25.3	LPA	rs6919346-?	0.16	4E-11		0.66	[NR] mg/dl decrease	Affymetrix [290327]	N
1813	chr6	160961136	160961137	rs3798220	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	6q25.3	LPA	rs3798220-C	0.02	3E-11		1.51	[1.33-1.70]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1813	chr6	160962502	160962503	rs7767084	19198611	Tregouet DA	2009-02-08	Nat Genet	Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	7,073 European ancestry cases, 7,325 European ancestry controls	6q25.3	SLC22A3, LPAL2, LPA	rs2048327-?,rs3127599-?,rs7767084-?,rs10755578-?	0.16	1E-9	(CTTG)	1.2	[1.13-1.28]	Affymetrix [~ 500000]	N
1813	chr6	160962502	160962503	rs7767084	19198611	Tregouet DA	2009-02-08	Nat Genet	Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	7,073 European ancestry cases, 7,325 European ancestry controls	6q25.3	SLC22A3, LPAL2, LPA	rs2048327-?,rs3127599-?,rs7767084-?,rs10755578-?	0.02	4E-15	(CCTC)	1.82	[1.57-2.12]	Affymetrix [~ 500000]	N
1813	chr6	160969737	160969738	rs10755578	19198611	Tregouet DA	2009-02-08	Nat Genet	Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	7,073 European ancestry cases, 7,325 European ancestry controls	6q25.3	SLC22A3, LPAL2, LPA	rs2048327-?,rs3127599-?,rs7767084-?,rs10755578-?	0.16	1E-9	(CTTG)	1.2	[1.13-1.28]	Affymetrix [~ 500000]	N
1813	chr6	160969737	160969738	rs10755578	19198611	Tregouet DA	2009-02-08	Nat Genet	Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	7,073 European ancestry cases, 7,325 European ancestry controls	6q25.3	SLC22A3, LPAL2, LPA	rs2048327-?,rs3127599-?,rs7767084-?,rs10755578-?	0.02	4E-15	(CCTC)	1.82	[1.57-2.12]	Affymetrix [~ 500000]	N
1813	chr6	161005388	161005389	rs191555775	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	6q25.3	LPA	rs191555775-A	0.9	4E-8		0.057	[0.037-0.077] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1813	chr6	161006076	161006077	rs41272114	25208887	Ma Q	2014-09-10	Blood	Genetic variants in PLG, LPA and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.	Plasma plasminogen levels	up to 3,244 European ancestry individuals	NA	6q25.3	LPA	rs41272114-A	0.05	3E-8	(Conditioned on rs4252129 and rs1084651)	0.056	[NR] unit increase	Illumina [up to 4514079] (imputed)	N
1813	chr6	161010117	161010118	rs10455872	25350695	Postmus I	2014-10-28	Nat Commun	Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.	Response to statins (LDL cholesterol change)	18,596 European ancestry individuals	23,279 European ancestry individuals	6q25.3	LPA	rs10455872-G	0.087	7E-44		0.052	[0.044-0.060] unit increase	Affymetrix, Illumina, Perlegen [at least 2500000] (imputed)	N
1813	chr6	161010117	161010118	rs10455872	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	6q25.3	SLC22A3, LPAL2, LPA	rs10455872-?		9E-14				Affymetrix, Illumina [up to 2500000] (imputed)	N
1813	chr6	161010117	161010118	rs10455872	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	6q25.3	SLC22A3, LPAL2, LPA	rs10455872-?		2E-12				Affymetrix, Illumina [up to 2500000] (imputed)	N
1813	chr6	161010117	161010118	rs10455872	23388002	Thanassoulis G	2013-02-17	N Engl J Med	Genetic associations with valvular calcification and aortic stenosis.	Aortic-valve calcification	6,942 European ancestry individuals	745 European ancestry individuals, 2,497 African American individuals, 2,027 Hispanic individuals, 774 Chinese ancestry individuals	6q25.3	LPA	rs10455872-G	0.07	3E-11	(EA)	2.05	[1.66-2.53]	Affymetrix, Illumina [> 2500000] (imputed)	N
1813	chr6	161010117	161010118	rs10455872	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity change in response to statin therapy	2,673 European ancestry cases, 2,656 European ancestry controls	NA	6q25.3	LPA	rs10455872-G	0.05	2E-16	(percent change)	4.8	[0.82-2.78] percent increase	Illumina [796174]	N
1813	chr6	161010117	161010118	rs10455872	22368281	Deshmukh HA	2012-02-24	J Lipid Res	Genome-wide association study of genetic determinants of LDL-c response to atorvastatin therapy: importance of Lp(a).	Response to statin therapy	2,702 European ancestry individuals	2,550 European ancestry individuals	6q25.3	LPA	rs10455872-A	NR	1E-9		0.28	[0.20-0.36] mmol/L decrease	Illumina, Perlegen [NR] (imputed)	N
1813	chr6	161010117	161010118	rs10455872	22331829	Chasman DI	2012-02-13	Circ Cardiovasc Genet	Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.	Response to statin therapy (LDL-C)	6,989 European ancestry individuals	NA	6q25.3	LPA	rs10455872-?	NR	5E-15	(fractional LDL-C reduction)	6.8	[4.45-9.15] % increase	Illumina [814418]	N
1813	chr6	161010117	161010118	rs10455872	21900290	Qi Q	2011-09-06	Eur Heart J	Genetic variants, plasma lipoprotein(a) levels, and risk of cardiovascular morbidity and mortality among two prospective cohorts of type 2 diabetes.	Lp (a) levels	1,450 European ancestry individuals	NA	6q25.3	LPA	rs10455872-G	0.07	5E-39		1.28	[1.08-1.48] mg/dL increase	Illumina [~ 2500000] (imputed)	N
1813	chr6	161018173	161018174	rs7770628	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6q25.3	LPA	rs7770628-?	0.49	4E-10	(LPA)			Illumina [496032]	N
1813	chr6	161070989	161070990	rs7759633	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6q26	LPA	rs7759633-G	0.87	9E-9		0.051	[0.033-0.069] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1814	chr6	161089816	161089817	rs1084651	25208887	Ma Q	2014-09-10	Blood	Genetic variants in PLG, LPA and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.	Plasma plasminogen levels	up to 3,244 European ancestry individuals	NA	6q26	LPA, SLC22A3	rs1084651-A	0.19	2E-15		0.038	[0.028-0.048] unit decrease	Illumina [up to 4514079] (imputed)	N
1814	chr6	161089816	161089817	rs1084651	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	6q26	LPA	rs1084651-A	0.16	3E-8		0.56	[0.36-0.76] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1814	chr6	161111699	161111700	rs186696265	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	6q26	LPA	rs186696265-T	0.01	4E-14		0.262	[0.19-0.33] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1814	chr6	161137989	161137990	rs783147	21900290	Qi Q	2011-09-06	Eur Heart J	Genetic variants, plasma lipoprotein(a) levels, and risk of cardiovascular morbidity and mortality among two prospective cohorts of type 2 diabetes.	Lp (a) levels	1,450 European ancestry individuals	NA	6q26	PLG	rs783147-A	0.45	3E-17		0.3	[0.22-0.38] mg/dL decrease	Illumina [~ 2500000] (imputed)	N
1814	chr6	161152904	161152905	rs4252129	25208887	Ma Q	2014-09-10	Blood	Genetic variants in PLG, LPA and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.	Plasma plasminogen levels	up to 3,244 European ancestry individuals	NA	6q26	PLG	rs4252129-T	0.02	2E-26		0.159	[0.13-0.19] unit decrease	Illumina [up to 4514079] (imputed)	N
1814	chr6	161197086	161197087	rs1620921	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q26	intergenic	rs1620921-?	NR	5E-8				Affymetrix [~ 2500000] (imputed)	N
1815	chr6	161333936	161333937	rs1247318	22773346	Edwards DR	2012-07-07	Age (Dordr)	Linkage and association of successful aging to the 6q25 region in large Amish kindreds.	Aging	263 Amish individuals aged 80 years or older	NA	6q26	MAP3K4, PLG	rs1247318-?	0.10	3E-6				Affymetrix [630309]	N
1817	chr6	161551438	161551439	rs2293289	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	6q26	AGPAT4	rs2293289-?	NR	3E-8				Affymetrix [~ 2500000] (imputed)	N
1818	chr6	161675490	161675491	rs3798943	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety in major depressive disorder	1,080 European ancestry cases, 442 European ancestry controls	NA	6q26	AGPAT4	rs3798943-?	0.53	8E-6	(Dichotomous)	1.45	[NR]	Illumina [471581]	N
1820	chr6	161933934	161933935	rs16892673	22773346	Edwards DR	2012-07-07	Age (Dordr)	Linkage and association of successful aging to the 6q25 region in large Amish kindreds.	Aging	263 Amish individuals aged 80 years or older	NA	6q26	PARK2	rs16892673-?	0.06	5E-6				Affymetrix [630309]	N
1820	chr6	162001435	162001436	rs992037	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	6q26	PARK2	rs992037-?	0.35	1E-7	(Lysine)			Affymetrix [187454]	N
1822	chr6	162157859	162157860	rs4708928	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	6q26	PARK2	rs4708928-?	NR	3E-6	(Females)		[NR]	Illumina [283437]	N
1822	chr6	162157859	162157860	rs4708928	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	6q26	PARK2	rs4708928-?	NR	2E-6			[NR]	Illumina [283437]	N
1822	chr6	162161618	162161619	rs926849	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6q26	PARK2	rs926849-C	0.31	3E-8		0.13	[0.083-0.177] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
1822	chr6	162236074	162236075	rs3016539	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	6q26	PARK2	rs3016539-A	0.87	7E-6	(dominant)	1.5	[1.26-1.79]	Illumina [420236]	N
1823	chr6	162314920	162314921	rs12207186	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q26	NR	rs12207186-T	0.0677100908685969	5E-6	(IGP32)	0.2882	[0.16-0.41] unit decrease	Illumina [~ 2500000] (imputed)	N
1828	chr6	163033349	163033350	rs13191362	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q26	PARK2	rs13191362-A	0.88	1E-9		0.029	[0.019-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1828	chr6	163033349	163033350	rs13191362	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q26	PARK2	rs13191362-A	0.879	7E-9	(EA)	0.028	[0.018-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1828	chr6	163033349	163033350	rs13191362	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q26	PARK2	rs13191362-A	0.878	1E-6	(EA, women)	0.03	[0.018-0.042] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1834	chr6	163817910	163817911	rs9364687	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q26	CAHM	rs9364687-G	0.571	7E-7		0.015	[0.009-0.0208] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1834	chr6	163817910	163817911	rs9364687	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q26	CAHM	rs9364687-G	0.569	1E-6	(EA)	0.015	[0.0089-0.0211] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1834	chr6	163817910	163817911	rs9364687	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6q26	CAHM	rs9364687-G	0.567	9E-7	(EA, men)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1837	chr6	164186676	164186677	rs10945919	18615156	Liu C	2008-07-10	Mol Med	Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.	Response to TNF antagonist treatment	89 European ancestry cases	NA	6q26	QKI	rs10945919-G	0.32	3E-7				Illumina [283348]	N
1838	chr6	164343725	164343726	rs12529314	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	6q26	intergenic	rs12529314-T	0.1725	4E-6	(Ordinal I)	0.2433	[0.14-0.35] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1838	chr6	164343774	164343775	rs9356171	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6q26	LOC728275, QKI	rs9356171-G	0.47	7E-6		0.0		Illumina [1556551]	N
1839	chr6	164452104	164452105	rs62437588	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	6q26	NR	rs62437588-?		8E-7	(PCB99)	0.92	[0.55-1.29] unit decrease	Illumina [8736858] (imputed)	N
1839	chr6	164452104	164452105	rs62437588	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	6q26	NR	rs62437588-?		7E-7	(PCB153)	0.94	[0.57-1.31] unit decrease	Illumina [8736858] (imputed)	N
1839	chr6	164452104	164452105	rs62437588	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	6q26	NR	rs62437588-?		4E-8	(PCB105)	1.03	[0.66-1.4] unit decrease	Illumina [8736858] (imputed)	N
1839	chr6	164452104	164452105	rs62437588	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	6q26	NR	rs62437588-?		2E-7	(PCB138)	0.96	[0.61-1.31] unit decrease	Illumina [8736858] (imputed)	N
1839	chr6	164452104	164452105	rs62437588	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	6q26	NR	rs62437588-?		1E-7	(PCB118)	1.02	[0.65-1.39] unit decrease	Illumina [8736858] (imputed)	N
1843	chr6	164900597	164900598	rs4709845	20516156	Lewis CM	2010-06-01	Am J Psychiatry	Genome-wide association study of major recurrent depression in the U.K. population.	Major depressive disorder	1,636 European ancestry cases, 1,594 European ancestry controls	1,418 European ancestry cases, 1,918 European ancestry controls	6q27	LOC728275	rs4709845-?	0.85	9E-6		1.21	[NR]	Illumina [471747]	N
1843	chr6	164975013	164975014	rs6919939	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6q27	NR	rs6919939-A	NR	7E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1847	chr6	165466350	165466351	rs227458	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6q27	C6orf118	rs227458-C	0.87	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1848	chr6	165565894	165565895	rs2675724	24824216	Myers RA	2014-05-13	Hum Mol Genet	Genome-wide interaction studies reveal sex-specific asthma risk alleles.	Asthma (sex interaction)	1,052 European ancestry male cases, 1,019 European ancestry female cases, 709 European ancestry male controls, 826 European ancestry female controls, 675 African American/African Caribbean male cases, 837 African American/African Caribbean female cases, 577 African American/African Caribbean male controls, 926 African American/African Caribbean female controls, 926 Latino male cases, 710 Latino female cases, 410 Latino male controls, 382 Latino female controls	NA	6q27	C6orf118	rs2675724-A	0.62	2E-7	(Latino, female)	1.44	[1.26-1.66]	Affymetrix, Illumina [~ 2100000] (imputed)	N
1849	chr6	165706472	165706473	rs1105228	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	6q27	NR	rs1105228-?		2E-6		0.28	unit increase	Illumina [1211988] (imputed)	N
1849	chr6	165706472	165706473	rs1105228	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children	1,686 Bangladeshi women	NA	6q27	NR	rs1105228-?		2E-6		0.29	unit increase	Illumina [1211988] (imputed)	N
1850	chr6	165935420	165935421	rs519595	22890011	Frazier-Wood AC	2012-08-09	Pharmacogenet Genomics	Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.	Response to fenofibrate	817 European ancestry individuals	NA	6q27	PDE10	rs519595-G	NR	5E-6	(Large LDL)	0.58	[0.33-0.83] unit decrease	Affymetrix [~ 2543887] (imputed)	N
1850	chr6	165935420	165935421	rs519595	22890011	Frazier-Wood AC	2012-08-09	Pharmacogenet Genomics	Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.	Response to fenofibrate	817 European ancestry individuals	NA	6q27	PDE10	rs519595-G	NR	2E-6	(LDL diameter)	0.6	[0.36-0.84] unit decrease	Affymetrix [~ 2543887] (imputed)	N
1851	chr6	165953126	165953127	rs545099	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	6q27	PDE10A	rs545099-C	NR	9E-6	(Fixed effect)	0.2	[0.12-0.28] unit increase	Illumina [4736131] (imputed)	N
1851	chr6	166015430	166015431	rs7762160	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	6q27	PDE10A	rs7762160-C	0.365	1E-6		0.07	[NR] unit increase	Illumina [948658]	N
1851	chr6	166046482	166046483	rs753760	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6q27	PDE10A	rs753760-C	0.691	6E-20	(TSH - Males)	0.131	[0.1-0.16] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1851	chr6	166046482	166046483	rs753760	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6q27	PDE10A	rs753760-C	0.691	5E-9	(TSH - Females)	0.076	[0.051-0.101] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1851	chr6	166046482	166046483	rs753760	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	6q27	PDE10A	rs753760-C	0.691	1E-24	(TSH)	0.1	[0.08-0.12] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1852	chr6	166128637	166128638	rs9364813	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	6q27	intergenic	rs9364813-G	NR	8E-6		0.265	[0.15-0.38] unit increase	Illumina [628922]	N
1852	chr6	166155456	166155457	rs1039002	22205951	Kerner B	2011-12-21	PLoS One	Genome-wide association study in bipolar patients stratified by co-morbidity.	Bipolar disorder	1,000 European ancestry cases, 1,034 European ancestry controls	NA	6q27	RP11-252P19.1	rs1039002-?	NR	2E-8	(Latent Class 1)			Affymetrix [728331]	N
1854	chr6	166451696	166451697	rs12195036	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	6q27	LINC00602	rs12195036-T	0.95	5E-7	(EA, MAP, Age 20-29)	3.11	[1.91-4.31] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1855	chr6	166534741	166534742	rs6456042	22538805	Tantisira KG	2012-04-26	Am J Respir Crit Care Med	Genome-wide association identifies the T gene as a novel asthma pharmacogenetic locus.	Asthma	418 European ancestry cases	407 European ancestry cases	6q27	T	rs6456042-?	NR	6E-6				Affymetrix [444088]	N
1855	chr6	166571442	166571443	rs1056053	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6q27	T	rs1056053-T	0.59	4E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1856	chr6	166706168	166706169	rs6915183	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	6q27	PRR18	rs6915183-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1860	chr6	167177421	167177422	rs635808	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	6q27	RPS6KA2	rs635808-?	NR	1E-7	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1861	chr6	167264100	167264101	rs4710117	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	6q27	RPS6KA2	rs4710117-?	NR	8E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1861	chr6	167329143	167329144	rs143050142	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	6q27	NR	rs143050142-?	NR	8E-7	(Japanese)	0.9785	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1861	chr6	167336150	167336151	rs9459805	24096698	De Vivo I	2013-10-06	Hum Genet	Genome-wide association study of endometrial cancer in E2C2.	Endometrial cancer	up to 2,695 European ancestry cases, up to 2,777 European ancestry controls	up to 3,235 cases, up to 12,059 controls	6q27	LOC100131869, RNASET2	rs9459805-?	NR	8E-6	(European, Endometroid subtype)			Illumina [873935]	N
1861	chr6	167352103	167352104	rs3777722	25599974	Zhang H	2015-01-19	Genet Epidemiol	A Genome-Wide Association Study of Early Spontaneous Preterm Delivery.	Spontaneous preterm birth (preterm birth)	916 pre-term birth neonates, 935 term birth neonates	243 pre-term birth neonates, 149 term birth neonates	6q27	RNASET2	rs3777722-?	0.79	1E-9		1.64	[NR]	Affymetrix [797196]	N
1861	chr6	167360388	167360389	rs2236313	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6q27	RNASET2, FGFR1OP, CCR6	rs2236313-T	0.38	1E-16		1.2	[1.15-1.25]	Illumina [493909]	N
1861	chr6	167363472	167363473	rs3798305	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	6q27	RPS6KA2, RNASET2	rs3798305-T	0.0103	7E-6		4.8339	[NR] unit increase	Illumina [1216189] (imputed)	N
1861	chr6	167371109	167371110	rs2149085	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6q27	RNASET2, FGFR1OP, CCR6, MIR3939	rs2149085-T	0.379	8E-12		1.34	[1.23-1.45]	Illumina [5664371] (imputed)	N
1861	chr6	167373546	167373547	rs1819333	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q27	NR	rs1819333-C	0.54	2E-19	(EA)	1.1177828		Affymetrix, Illumina [~ 9000000] (imputed)	N
1861	chr6	167373546	167373547	rs1819333	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	6q27	RPS6KA2, RNASET2, CCR6	rs1819333-T	0.523	7E-21		1.081	[1.051-1.113]	Affymetrix, Illumina [1230000] (imputed)	N
1862	chr6	167383074	167383075	rs9355610	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6q27	RNASET2, FGFR1OP	rs9355610-G	0.47	7E-10		1.19	[1.13-1.26]	Illumina [486049]	N
1862	chr6	167390241	167390242	rs444210	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q27	NR	rs444210-?	NR	2E-17	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1862	chr6	167392173	167392174	rs9457247	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6q27	NR	rs9457247-?	NR	2E-18	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1862	chr6	167406632	167406633	rs415890	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6q27	CCR6	rs415890-C	0.522	3E-12		1.17	[1.12-1.22]	Affymetrix, Illumina [953241] (imputed)	N
1862	chr6	167437987	167437988	rs2301436	20570966	McGovern DP	2010-06-22	Hum Mol Genet	Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.	Crohn's disease	896 European ancestry cases, 3,204 European ancestry controls	1,174 European ancestry cases, 357 European ancestry controls	6q27	FGFR10P, RNASE2, CCR6	rs2301436-?	NR	6E-8		1.37	[1.22-1.53]	Illumina [304825]	N
1862	chr6	167437987	167437988	rs2301436	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	6q27	CCR6	rs2301436-T	0.46	1E-12		1.21	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1863	chr6	167532792	167532793	rs3093024	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	6q27	CCR6	rs3093024-T	0.46	8E-19		1.19	[1.15-1.24]	Illumina [393217]	N
1863	chr6	167533061	167533062	rs1854853	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6q27	CCR6	rs1854853-A	0.468	7E-15	(ACPA+ cases vs. all controls)	1.4164	[NR]	Affymetrix [3441843] (imputed)	N
1863	chr6	167533061	167533062	rs1854853	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6q27	CCR6	rs1854853-A	0.468	2E-10	(all cases vs. all controls)	1.2642	[NR]	Affymetrix [3441843] (imputed)	N
1863	chr6	167534289	167534290	rs3093023	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	952 Han Chinese ancestry cases, 943 Han Chinese ancestry controls	5,539 European ancestry cases, 20,169 European ancestry controls	6q27	CCR6	rs3093023-A		4E-9		1.146	[NR]	Affymetrix [1497047] (imputed)	N
1863	chr6	167534289	167534290	rs3093023	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6q27	CCR6	rs3093023-A	0.43	2E-11		1.13	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1863	chr6	167540841	167540842	rs1571878	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q27	CCR6	rs1571878-C	0.48	1E-22	(East Asian)	1.28	[1.22-1.35]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1863	chr6	167540841	167540842	rs1571878	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q27	CCR6	rs1571878-C	0.45	5E-35		1.17	[1.14-1.20]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1863	chr6	167540841	167540842	rs1571878	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6q27	CCR6	rs1571878-C	0.44	2E-18	(EA)	1.13	[1.10-1.17]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1863	chr6	167548546	167548547	rs62436827	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Triglycerides	1,678 Mexican ancestry high triglyceride cases, 1,645 Mexican ancestry low triglyceride controls	2,129 Mexican ancestry high triglyceride cases, 2,985 Mexican ancestry low triglyceride controls, 903 Mexican ancestry individuals from 73 dyslipidemic families	6q27	CCR6	rs62436827-G	NR	7E-9		1.49	[1.24-1.78]	Illumina [1661241] (imputed)	N
1863	chr6	167549476	167549477	rs3093009	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	6q27	CCR6	rs3093009-?	NR	4E-7	(Additive model)	0.38	unit decrease	Illumina [542562]	N
1863	chr6	167557033	167557034	rs11575088	24133439	Jones RM	2013-10-11	Front Hum Neurosci	Genome-wide association study of autistic-like traits in a general population study of young adults.	Social autistic-like traits	965 European ancestry young adult individuals	NA	6q27	GPR31, CCR6	rs11575088-A		3E-6		1.62	[0.94-2.30] unit increase	Illumina [2462046] (imputed)	N
1863	chr6	167572541	167572542	rs4710191	25089948	Theusch E	2014-10-01	Pharmacogenet Genomics	Ancestry and other genetic associations with plasma PCSK9 response to simvastatin.	Response to simvastatin treatment (PCSK9 protein level change)	562 European ancestry individuals	287 African American individuals	6q27	GPR31	rs4710191-G	0.433	4E-6	(EA)	0.0854	[NR] unit decrease	Illumina [570422]	N
1864	chr6	167754974	167754975	rs12528714	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6q27	NR	rs12528714-G	0.991049	8E-6	(IGP67)	2.4277	[1.36-3.49] unit decrease	Illumina [~ 2500000] (imputed)	N
1869	chr6	168388927	168388928	rs2843012	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	6q27	HGC6.1.1, MLLT4, KIF25, HGC6.3	rs2843012-A	NR	6E-6		0.218	unit increase	Illumina [5767231] (imputed)	N
1870	chr6	168484084	168484085	rs4708431	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	6q27	NR	rs4708431-A		7E-6				Illumina [2373249] (imputed)	N
1870	chr6	168490567	168490568	rs9364220	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	6q27	NR	rs9364220-A		6E-6				Illumina [2373249] (imputed)	N
1870	chr6	168490567	168490568	rs9364220	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	6q27	NR	rs9364220-A		7E-6				Illumina [2373249] (imputed)	N
1870	chr6	168511015	168511016	rs1473500	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6q27	FRMD1	rs1473500-A		3E-7	(EA)			Illumina [NR]	N
1872	chr6	168757110	168757111	rs6915443	23754948	Randall JC	2013-06-06	PLoS Genet	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	Sexual dimorphism in anthropometric traits	up to 60,586 European ancestry males, up to 73,137 European ancestry females	up to 62,395 European ancestry males, up to 74,657 European ancestry females	6q27	DACT2	rs6915443-T		3E-6	(WC, men)			Affymetrix, Illumina [2846694] (imputed)	N
1872	chr6	168816451	168816452	rs9355211	25628645	Tong Y	2015-01-13	Front Genet	Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs).	Response to Homoharringtonine (cytotoxicity)	93 African-American ancestry lymphoblastoid cell lines, 91 European ancestry lymphoblastoid cell lines, 94 Han Chinese ancestry lymphoblastoid cell lines	NA	6q27	intergenic	rs9355211-?		7E-7				Affymetrix, Illumina [6750581] (imputed)	N
1873	chr6	168941623	168941624	rs13208776	19890347	Birlea SA	2009-11-05	J Invest Dermatol	Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.	Vitiligo	32 Romanian founder cases, 44 European ancestry controls	NA	6q27	SMOC2	rs13208776-?	0.38	9E-8				Illumina [297342]	N
1874	chr6	168972557	168972558	rs192378410	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	6q27	NR	rs192378410-T	0.025	2E-6		4.11	[2.30-7.35]	Illumina [7261187] (imputed)	N
1878	chr6	169558012	169558013	rs116146467	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6q27	intergenic	rs116146467-A	0.013	9E-7		5.61	[2.59-12.16]	Illumina [1556551]	N
1879	chr6	169727600	169727601	rs12190007	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q27	THBS2	rs12190007-A	0.233	5E-6	(Urinary free epinephrine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
1880	chr6	169820380	169820381	rs438465	23761726	Yazar S	2013-06-06	Mol Vis	Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.	Corneal astigmatism	2,784 European ancestry individuals		6q27	NR	rs438465-C	NR	7E-6		0.173	[0.097-0.249] unit decrease	Illumina [~ 2500000] (imputed)	N
1881	chr6	169958981	169958982	rs3734905	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6q27	NR	rs3734905-?	NR	2E-6	(progression)			Illumina [NR]	N
1882	chr6	170113243	170113244	rs7762018	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	6q27	IDDM8	rs7762018-A	0.13	8E-6	(EA-glucose response)	3.65	[2.06-5.24] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1884	chr6	170379024	170379025	rs924043	21980299	Bradfield JP	2011-09-29	PLoS Genet	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Type 1 diabetes	9,934 European ancestry cases, 16,956 European ancestry controls	1,120 European ancestry affected trios	6q27	WDR27, C6orf120, PHF10, TCTE3, C6orf208, LOC154449, DLL1, FAM120B, PSMB1, TBP, PCD2	rs924043-?	0.85	8E-9		1.35	[NR]	Affymetrix, Illumina [~ 2540000] (imputed)	N
1885	chr6	170425520	170425521	rs10946292	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6q27	LOC154449	rs10946292-G	0.289	3E-6	(Adiponectin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1886	chr6	170590474	170590475	rs1028488	25338677	Kariuki SN	2014-10-23	Genes Immun	Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.	Interferon alpha levels in systemic lupus erythematosus	88 European ancestry high interferon alpha cases, 322 European ancestry low interferon alpha cases	715 European ancestry cases, 450 African American cases	6q27	LOC154449, DLL1	rs1028488-?	NR	2E-7	(EA)	1.9607843	[1.43-2.63]	Illumina [291943]	N
585	chr7	40482	40483	rs6583337	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	7p22.3	FAM20C	rs6583337-?	NR	1E-7	(AA)	2.17	[1.33-5.56]	Affymetrix, Illumina [NR] (imputed)	N
585	chr7	82376	82377	rs11761441	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	7p22.3	FAM20C	rs11761441-G	0.46	2E-6		1.12	[1.07-1.17]	NR [NR]	N
592	chr7	1022727	1022728	rs12701220	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	7p22.3	COX19, CYP2W1	rs12701220-G	0.72	3E-6	(Hispanic)	1.5385	[NR]	Illumina [1795103]	N
592	chr7	1039002	1039003	rs10256972	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	7p22.3	C7orf50	rs10256972-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
593	chr7	1083776	1083777	rs1997243	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	7p22.3	GPR146	rs1997243-G	0.16	3E-10		0.033	[NR] unit increase	NR [NR] (imputed)	N
594	chr7	1273844	1273845	rs10275044	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	7p22.3	UNCX	rs10275044-T	0.34	4E-9		0.0069	[0.0046-0.0093] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
594	chr7	1285194	1285195	rs10277115	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	7p22.3	UNCX	rs10277115-T	0.35	5E-11		0.0052	[0.0036-0.0068] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
594	chr7	1285194	1285195	rs10277115	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	7p22.3	UNCX	rs10277115-T	0.35	1E-10		0.0058	[0.0040-0.0076] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
594	chr7	1288638	1288639	rs13241427	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	7p22.3	UNCX	rs13241427-G	0.2	1E-6		0.116	[0.069-0.163] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
594	chr7	1288638	1288639	rs13241427	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	7p22.3	UNCX	rs13241427-C	0.22	4E-7	(univariate, upper trunk)			Illumina [319818]	N
598	chr7	1792395	1792396	rs76720445	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7p22.3	NR	rs76720445-?	NR	3E-6	(Native Hawaiian)	0.7911	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
599	chr7	1886534	1886535	rs6952808	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	7p22.3	NR	rs6952808-?	NR	2E-6		1.2541	[NR]	Affymetrix [722112]	N
599	chr7	1912221	1912222	rs4721135	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	7p22.3	MAD1L1	rs4721135-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
599	chr7	1920825	1920826	rs10275045	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	7p22.3	MAD1L1	rs10275045-?	NR	2E-6	(SCZ vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
599	chr7	1920825	1920826	rs10275045	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	7p22.3	MAD1L1	rs10275045-?		2E-9	(SCZ or BP vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
599	chr7	1950808	1950809	rs4332037	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	7p22.3	MAD1L1	rs4332037-T	NR	7E-6		1.11	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
600	chr7	1968952	1968953	rs12699477	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	7p22.3	MAD1L1	rs12699477-C	0.38	6E-9		1.21	[1.14-1.29]	Illumina [NR]	N
600	chr7	2004420	2004421	rs12666575	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	7p22.3	SNX8, NUDT1, FTSJ2, MAD1L1	rs12666575-?	NR	2E-9		1.12	[NR]	Affymetrix [745006]	N
600	chr7	2017444	2017445	rs6461049	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	7p22.3	SNX8, NUDT1, FTSJ2, MAD1L1	rs6461049-T	0.571	6E-13		1.107	[1.08-1.13]	Affymetrix, Illumina [9871789]	N
600	chr7	2020994	2020995	rs12668848	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p22.3	NR	rs12668848-G	NR	1E-13		1.0869565	[NR]	Illumina [7158791] (imputed)	N
600	chr7	2036668	2036669	rs4721295	24166486	Sleiman P	2013-10-29	Sci Rep	GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.	Schizophrenia, schizoaffective disorder or bipolar disorder	11,985 European, African American, Asian, other and unknown ancestry schizophrenia cases, 377 European, African American, Asian, other and unknown ancestry schizoaffective disorder cases, 1,032 bipolar disorder cases, 34,676 European, African American, Asian, other and unknown ancestry controls	2652 individuals	7p22.3	MAD1L1	rs4721295-?	0.378	6E-10				Affymetrix, Illumina [NR] (imputed)	N
600	chr7	2041431	2041432	rs1107592	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	7p22.3	NR	rs1107592-A		5E-6	(Modelling analysis)	1.06	[1.03-1.09]	NR [1252901] (imputed)	N
600	chr7	2041431	2041432	rs1107592	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	7p22.3	NR	rs1107592-?	NR	2E-6		1.2384	[NR]	Affymetrix [722112]	N
602	chr7	2278225	2278226	rs7799006	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	7p22.3	NR	rs7799006-C	NR	5E-6	(5 degree of freedom test)	1.059	[1.03-1.08]	NR [1252901] (imputed)	N
602	chr7	2298226	2298227	rs2398668	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	7p22.3	NR	rs2398668-?	NR	7E-6		1.2261	[NR]	Affymetrix [722112]	N
603	chr7	2448492	2448493	rs6952809	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	7p22.3	CHST12	rs6952809-A	NR	4E-6	(Conditioned on rs1843938)	1.08	[1.06-1.09]	Illumina [465434]	N
604	chr7	2582451	2582452	rs6972204	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p22.3	BRAT1	rs6972204-G	0.171	5E-6	(Bike energy expenditure )	0.03	[NR] kcal/min increase	Illumina [899892]	N
605	chr7	2653581	2653582	rs1045714	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	7p22.3	IQCE	rs1045714-G	0.3	6E-6		0.081	[0.046-0.116] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
605	chr7	2702815	2702816	rs7811528	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p22.3	NR	rs7811528-G	NR	4E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
606	chr7	2759794	2759795	rs798554	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	7p22.3	AMZ1	rs798554-C	0.68	4E-23		1.24	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
606	chr7	2763101	2763102	rs798544	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	7p22.3	GNA12	rs798544-G	0.72	7E-15		5.9	[6.03-8.77] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
606	chr7	2789879	2789880	rs798502	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	7p22.3	GNA12, CARD11, TTYH3	rs798502-A	0.709	6E-17		1.127	[1.084-1.171]	Affymetrix, Illumina [1230000] (imputed)	N
606	chr7	2789879	2789880	rs798502	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	7p22.3	GNA12	rs798502-A	0.71	3E-15		1.13	[1.08-1.18]	Affymetrix, Illumina [~ 1100000] (imputed)	N
606	chr7	2795956	2795957	rs798497	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	7p22.3	GNA12	rs798497-A	0.698	2E-71		0.057	[0.051-0.063] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
606	chr7	2795956	2795957	rs798497	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	7p22.3	GNA12	rs798497-G	0.27	7E-7		0.06	[0.04-0.08] cm decrease	Illumina [420885]	N
606	chr7	2801802	2801803	rs798489	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	7p22.3	GNA12	rs798489-T	0.3	2E-33		0.048	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
606	chr7	2814270	2814271	rs7777484	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	7p22.3	GNA12	rs7777484-A	0.78	4E-27		0.059	[0.045-0.073] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
606	chr7	2869984	2869985	rs1182188	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p22.2	NR	rs1182188-A	0.7	5E-15	(EA)	1.1136187		Affymetrix, Illumina [~ 9000000] (imputed)	N
606	chr7	2869984	2869985	rs1182188	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p22.2	NR	rs1182188-A	0.7	1E-9	(EA)	1.068123		Affymetrix, Illumina [~ 9000000] (imputed)	N
606	chr7	2869984	2869985	rs1182188	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	7p22.2	GNA12	rs1182188-?	0.27	3E-9		0.07	[0.04-0.10] s.d. increase	Illumina [229216]	N
607	chr7	2915377	2915378	rs6977940	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	7p22.2	GNA12, CARD11	rs6977940-?	0.11	5E-6				Illumina [565404]	N
608	chr7	3128788	3128789	rs4722404	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	7p22.2	CARD11	rs4722404-G	0.326	8E-9		1.18	[1.12-1.25]	Illumina [606164]	N
610	chr7	3362641	3362642	rs4343996	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	7p22.2	SDK1	rs4343996-G	0.451	9E-11		0.034	[0.023-0.044] unit increase	Illumina [7428049] (imputed)	N
614	chr7	3915563	3915564	rs6462411	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	7p22.2	SDK1	rs6462411-C	0.20	1E-6	(TSH)	0.36	[NR] mIU/L decrease	Affymetrix [408775]	N
616	chr7	4118376	4118377	rs34912216	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	7p22.2	SDK1	rs34912216-G	0.727	3E-8		0.035	[0.023-0.047] unit decrease	Illumina [7428049] (imputed)	N
618	chr7	4401549	4401550	rs11760485	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Early childhood aggressive behavior	15,668 European ancestry individuals	NA	7p22.2	SDK1	rs11760485-T	0.33	1E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
618	chr7	4411208	4411209	rs10488360	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Factor VII	886 European ancestry individuals	NA	7p22.2	intergenic	rs10488360-?	0.30	7E-6				Affymetrix [70897]	N
619	chr7	4474131	4474132	rs314590	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p22.2	SDK1	rs314590-G	0.271	4E-6	(Vitamin B12 )	0.02	[NR] pmol/L increase	Illumina [899892]	N
621	chr7	4723533	4723534	rs9791644	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	7p22.1	NR	rs9791644-?		3E-6	(AA)			Illumina [up to 524000]	N
621	chr7	4839264	4839265	rs2306921	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p22.1	RADIL	rs2306921-A	0.06	6E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
627	chr7	5524804	5524805	rs10216189	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	7p22.1	FBXL18, TNRC18, ACTB, MIR589	rs10216189-?	0.39	4E-6		0.24	[0.14-0.34] unit decrease	Illumina [2095209]	N
629	chr7	5880376	5880377	rs308097	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p22.1	NR	rs308097-G	0.966564075211393	2E-6	(IGP48)	0.4299	[0.25-0.61] unit decrease	Illumina [~ 2500000] (imputed)	N
634	chr7	6449271	6449272	rs702485	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	7p22.1	DAGLB	rs702485-G	0.45	6E-12		0.024	[NR] unit increase	NR [NR] (imputed)	N
634	chr7	6516034	6516035	rs12702514	25248455	Ek WE	2014-09-23	Gut	Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.	Irritable bowel syndrome	534 European ancestry cases, 4,932 European ancestry controls	1,718 European ancestry cases, 1,793 European ancestry controls	7p22.1	KDELR2, GRID2IP	rs12702514-T	0.41	5E-6		1.21	[1.13-1.30]	Illumina [1253036] (imputed)	N
636	chr7	6718673	6718674	rs1830074	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7p22.1	ZNF12	rs1830074-C	0.299	3E-6		0.019	[0.011-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
636	chr7	6718673	6718674	rs1830074	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7p22.1	ZNF12	rs1830074-C	0.296	4E-6	(EA, women)	0.025	[0.014-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
636	chr7	6771659	6771660	rs116139393	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease (APOE e4 interaction)	10,352 APOE e4+ cases, 9,207 APOE e4+ controls, 7,184 APOE e4- cases, 26,968 APOE e4- controls	1,250 APOE e4+ European ancestry cases, 536 APOE e4+ European ancestry controls, 718 APOE e4- European ancestry cases, 1,699 APOE e4- European ancestry controls	7p22.1	PMS2CL, ZNF12	rs116139393-C	0.84	3E-8		1.098901	[1.06-1.12]	NR [NR]	N
636	chr7	6774134	6774135	rs60111824	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p22.1	NR	rs60111824-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
639	chr7	7195466	7195467	rs188324495	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	7p22.1	NR	rs188324495-?		2E-7	(PCB105)	1.32	[0.83-1.81] unit decrease	Illumina [8736858] (imputed)	N
640	chr7	7259269	7259270	rs12702595	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	7p21.3	NR	rs12702595-A	0.444	1E-6		0.099	[0.06-0.138] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
640	chr7	7259269	7259270	rs12702595	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	7p21.3	NR	rs12702595-A	0.444	6E-7		0.101	[0.062-0.14] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
640	chr7	7268430	7268431	rs10259085	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	7p21.3	C1GALT1	rs10259085-?	0.46	4E-6			[NR]	Illumina [551642]	N
640	chr7	7302292	7302293	rs1299548	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	7p21.3	C1GALT1	rs1299548-A	0.46	4E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
640	chr7	7313484	7313485	rs6953213	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	7p21.3	C1GALT1	rs6953213-A	0.0429	6E-6		2.4305	[NR] unit increase	Illumina [1216189] (imputed)	N
641	chr7	7399403	7399404	rs10486158	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	7p21.3	NR	rs10486158-?	NR	6E-6		1.2739	[NR]	Affymetrix [722112]	N
642	chr7	7571419	7571420	rs17168526	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	7p21.3	COL28A1	rs17168526-G		6E-8	(AA)			Illumina [NR]	N
643	chr7	7693918	7693919	rs12538804	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	7p21.3	RPA3	rs12538804-G	0.24	6E-6		0.08	[0.045-0.115] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
644	chr7	7779323	7779324	rs10486187	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	7p21.3	LOC729852	rs10486187-T	0.0897	5E-6		1.886	[NR] unit decrease	Illumina [1216189] (imputed)	N
644	chr7	7800686	7800687	rs17137412	21221126	Shen Y	2011-01-11	Pharmacogenomics J	Genome-wide association study of serious blistering skin rash caused by drugs.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	up to 72 European ancestry cases, up to 4,251 European ancestry controls	NA	7p21.3	RPA3	rs17137412-?	NR	1E-8	(NW-EA)	4.0	[2.5-6.2]	Illumina [up to 1000000]	N
644	chr7	7848911	7848912	rs10259199	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.3	LOC729852	rs10259199-G	0.091	2E-6	(Height change )	0.04	[NR] cm/y increase	Illumina [899892]	N
645	chr7	7864750	7864751	rs12702661	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.3	LOC729852	rs12702661-A	0.273	2E-6	(Total energy expenditure RQ)	0.04	[NR] unit increase	Illumina [899892]	N
645	chr7	7864750	7864751	rs12702661	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.3	LOC729852	rs12702661-A	0.273	2E-6	(Fat oxidation )	0.04	[NR] %NPEE increase	Illumina [899892]	N
645	chr7	7883322	7883323	rs7780564	21216879	Kaplan RC	2011-01-07	Hum Mol Genet	A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.	Insulin-like growth factors	10,280 European ancestry individuals	NA	7p21.3	RPA3	rs7780564-C	0.55	4E-7	(IGF-I)			Affymetrix, Illumina [~ 2500000] (imputed)	N
645	chr7	7938595	7938596	rs10486201	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.3	LOC729852	rs10486201-A	0.1	6E-6	(Light activity )	0.03	[NR] min/d increase	Illumina [899892]	N
647	chr7	8142926	8142927	rs7791362	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	7p21.3	GLCCI1, ICA1	rs7791362-C	0.201	4E-6	(Semantic Fluency)	2.7807	[1.62-3.94] unit decrease	Affymetrix [> 371951] (imputed)	N
647	chr7	8152066	8152067	rs59072263	23836780	The Blue Mountains Eye Study (BMES) and The Wellcome Trust Case Control Consortium 2 (WTCCC2)	2013-07-07	Hum Mol Genet	Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.	Intraocular pressure	2,175 European ancestry individuals	4,866 European ancestry individuals	7p21.3	GLCCI1, ICA1	rs59072263-G	0.88	1E-8		0.45	[0.29-0.61] unit increase	Illumina [6235970]	N
647	chr7	8157886	8157887	rs6463768	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	7p21.3	ICA1	rs6463768-C		1E-6		0.19	[0.11-0.27] unit increase	Affymetrix [~ 2500000] (imputed)	N
647	chr7	8177396	8177397	rs17143586	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.3	ICA1	rs17143586-A	0.022	1E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
650	chr7	8552613	8552614	rs765855	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Breast Cancer in BRCA1 mutation carriers	1,426 European ancestry cases, 1,301 European ancestry controls	6,031 European ancestry cases, 5,933 European ancestry controls	7p21.3	NR	rs765855-?		4E-6				Illumina [2568349] (imputed)	N
650	chr7	8642353	8642354	rs10245124	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.3	NXPH1	rs10245124-G	0.177	8E-6	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
650	chr7	8642353	8642354	rs10245124	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.3	NXPH1	rs10245124-G	0.177	8E-6	(HOMA-IR)	0.03	[NR] unit increase	Illumina [899892]	N
651	chr7	8718079	8718080	rs2349775	18762592	van den Oord EJ	2008-09-01	Arch Gen Psychiatry	Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.	Neuroticism	1,227 European ancestry individuals	1,880 European ancestry individuals	7p21.3	NXPH1	rs2349775-?	NR	7E-6				Affymetrix [420287]	N
652	chr7	8838716	8838717	rs6463843	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	7p21.3	NXPH1	rs6463843-?	NR		<1 x 10-6 (multiple phenotypes)			Illumina [530992]	N
653	chr7	8960862	8960863	rs13247936	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p21.3	NR	rs13247936-G	NR	1E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
653	chr7	8998975	8998976	rs17157663	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	7p21.3	intergenic	rs17157663-A	0.32	9E-6	(TC)	0.18	[NR] mg/dL decrease	Affymetrix [408775]	N
654	chr7	9066819	9066820	rs10952132	22890011	Frazier-Wood AC	2012-08-09	Pharmacogenet Genomics	Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.	Response to fenofibrate	817 European ancestry individuals	NA	7p21.3	NXPH1	rs10952132-T	NR	7E-6	(Large LDL)	0.29	[-0.98400-1.56400] unit increase	Affymetrix [~ 2543887] (imputed)	N
654	chr7	9066819	9066820	rs10952132	22890011	Frazier-Wood AC	2012-08-09	Pharmacogenet Genomics	Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.	Response to fenofibrate	817 European ancestry individuals	NA	7p21.3	NXPH1	rs10952132-T	NR	1E-6	(LDL diameter)	0.31	[-0.94440-1.56440] unit increase	Affymetrix [~ 2543887] (imputed)	N
654	chr7	9070268	9070269	rs13233490	24882193	Winham SJ	2014-04-19	J Affect Disord	Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.	Binge eating behaviour and bipolar disorder	206 European ancestry cases with binge eating behavior, 723 European ancestry cases without binge eating behavior, 1,034 European ancestry controls	70 European ancestry cases with binge eating behavior, 758 European ancestry cases without binge eating behavior, 832 European ancestry controls	7p21.3	PER4	rs13233490-?	NR	4E-6		4.89	[NR]	Affymetrix [8466825] (imputed)	N
655	chr7	9189540	9189541	rs1371737	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.3	NXPH1	rs1371737-C	0.336	7E-6	(Diet carbohydrate )	0.04	[NR] %energy increase	Illumina [899892]	N
655	chr7	9266387	9266388	rs1285407	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	7p21.3	NXPH1	rs1285407-?	0.35	1E-6	(TGF-b1)			Illumina [496032]	N
656	chr7	9323219	9323220	rs1919796	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p21.3	NR	rs1919796-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
657	chr7	9539278	9539279	rs9918508	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	7p21.3	intergenic	rs9918508-?	NR	8E-6				Illumina [516645]	N
657	chr7	9550571	9550572	rs12702919	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p21.3	NR	rs12702919-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
658	chr7	9616979	9616980	rs17161791	25221879	Wu K	2014-09-15	Am J Respir Crit Care Med	Genome-wide Interrogation of Longitudinal FEV1 in Children with Asthma.	Pulmonary function in asthmatics	510 European ancestry	NA	7p21.3	intergenic	rs17161791-C	0.37	2E-6	(Rate of change in FEV1)	0.002	[NR] unit increase	Illumina [473680]	N
658	chr7	9688108	9688109	rs4236420	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	7p21.3	PER4	rs4236420-?	NR	4E-6	(% Change in score)	0.13	[NR] unit increase	Illumina [~ 7000000] (imputed)	N
662	chr7	10149975	10149976	rs7778619	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	7p21.3	intergenic	rs7778619-?	NR	3E-6	(CD40L)			Affymetrix [70897]	N
664	chr7	10364722	10364723	rs2882834	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	7p21.3	intergenic	rs2882834-?	NR	1E-6				NR [~ 2000000]	N
667	chr7	10767487	10767488	rs6947964	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	7p21.3	NDUFA4, FDFT1	rs6947964-T	0.44	6E-6	(Left HG thickness)	0.034	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
671	chr7	11291399	11291400	rs4720952	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p21.3	NR	rs4720952-G	0.419614954873646	4E-7	(IGP73)	0.1566	[0.096-0.217] unit decrease	Illumina [~ 2500000] (imputed)	N
671	chr7	11291399	11291400	rs4720952	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p21.3	NR	rs4720952-G	0.419614749097473	7E-7	(IGP52)	0.1534	[0.093-0.214] unit decrease	Illumina [~ 2500000] (imputed)	N
671	chr7	11291399	11291400	rs4720952	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p21.3	NR	rs4720952-G	0.419193108861898	3E-7	(IGP12)	0.1583	[0.098-0.219] unit decrease	Illumina [~ 2500000] (imputed)	N
674	chr7	11705785	11705786	rs116864947	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	7p21.3	THSD7A	rs116864947-T	0.983	3E-7		0.431	[0.23-0.63] unit decrease	Illumina [6391392] (imputed)	N
677	chr7	12059805	12059806	rs769111	22889924	Scharf JM	2012-08-14	Mol Psychiatry	Genome-wide association study of Tourette's syndrome.	Tourette syndrome	778 European ancestry cases, 4,414 European ancestry controls, 242 Ashkenazi Jewish cases, 354 Ashkenazi Jewish controls, 265 French Canadian founder cases, 196 French Canadian founder controls	211 Latin American cases, 285 Latin American controls	7p21.3	THSD7A, TMEM106B	rs769111-T	0.62	6E-6		1.23	[NR]	Illumina [484295]	N
677	chr7	12094965	12094966	rs1035147	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)	106 Japanese ancestry cases, 187 Japanese ancestry controls	NA	7p21.3	TMEM106B	rs1035147-T	0.877	4E-6	(Allelic model)	7.294	[2.587-20.559]	Illumina [733202]	N
677	chr7	12184429	12184430	rs28671666	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	7p21.3	intergenic	rs28671666-A	0.2128	3E-6		0.5396	[0.31-0.77] unit increase	Affymetrix, Illumina [NR] (imputed)	N
677	chr7	12188528	12188529	rs1595014	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease (APOE e4 interaction)	10,352 APOE e4+ cases, 9,207 APOE e4+ controls, 7,184 APOE e4- cases, 26,968 APOE e4- controls	1,250 APOE e4+ European ancestry cases, 536 APOE e4+ European ancestry controls, 718 APOE e4- European ancestry cases, 1,699 APOE e4- European ancestry controls	7p21.3	THSD7A, TMEM106B	rs1595014-T	0.72	4E-6		1.1904762	[1.11-1.28]	NR [NR]	N
678	chr7	12193431	12193432	rs114945094	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	7p21.3	intergenic	rs114945094-G	0.959	4E-6		0.135	[0.078-0.192] unit decrease	Illumina [6150213] (imputed)	N
678	chr7	12219534	12219535	rs17594709	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p21.3	NR	rs17594709-G	0.283855287561302	5E-6	(IGP34)	0.1572	[0.09-0.225] unit decrease	Illumina [~ 2500000] (imputed)	N
678	chr7	12273151	12273152	rs14978	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	7p21.3	TMEM106B	rs14978-?	NR	7E-6	(SF3)			Affymetrix [5476100] (imputed)	N
679	chr7	12391318	12391319	rs6967385	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	7p21.3	TMEM106B	rs6967385-?	NR	6E-6				Affymetrix, Illumina [~ 1300000]	N
681	chr7	12713069	12713070	rs10488226	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil)	177 Japanese ancestry cases, 952 Japanese ancestry controls	NA	7p21.3	LOC100505995	rs10488226-A	0.107	3E-6	(Dominant model)	2.026	[1.50-2.737]	Illumina [733202]	N
683	chr7	12932048	12932049	rs732577	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	7p21.3	intergenic	rs732577-?	0.50	4E-6	(Recessive)	1.15	[1.08-1.22]	Affymetrix [319222]	N
683	chr7	12937254	12937255	rs17166499	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	7p21.3	NR	rs17166499-?	NR	5E-6		1.5129	[NR]	Affymetrix [722112]	N
683	chr7	12975554	12975555	rs11980091	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7p21.3	NR	rs11980091-?	NR	2E-6		0.4696	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
687	chr7	13440221	13440222	rs10255329	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	7p21.3	LOC100131022	rs10255329-C		7E-6		0.06	[0.03-0.08] unit decrease	Affymetrix [~ 2500000] (imputed)	N
688	chr7	13543728	13543729	rs13307587	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	7p21.3	intergenic	rs13307587-A	0.67	5E-6		0.088	[0.051-0.125] unit decrease	Illumina [~ 2400000] (imputed)	N
688	chr7	13554007	13554008	rs13227425	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		7p21.3	intergenic	rs13227425-?	NR	7E-6				Illumina [~ 2400000] (imputed)	N
688	chr7	13560220	13560221	rs1357978	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		7p21.3	intergenic	rs1357978-A	0.30	6E-6		0.07	[0.039-0.101] unit increase	Illumina [~ 2400000] (imputed)	N
689	chr7	13683762	13683763	rs17167307	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7p21.3	ARL4A, LOC100131022	rs17167307-G	0.001	1E-6		34.43	[3.56-333.11]	Illumina [1556551]	N
691	chr7	13900730	13900731	rs7795991	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	7p21.2	ETV1	rs7795991-G		7E-7		1.05	[1.03-1.07]	Affymetrix, Illumina [2500000] (imputed)	N
691	chr7	13922140	13922141	rs7788657	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	7p21.2	intergenic	rs7788657-T	0.436	9E-7		0.056	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
693	chr7	14228702	14228703	rs2068399	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p21.2	NR	rs2068399-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
693	chr7	14281909	14281910	rs17765925	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	7p21.2	DGKB, ETV1	rs17765925-G	0.3	3E-6	(VPWL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
695	chr7	14445916	14445917	rs6971925	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	7p21.2	DGKB	rs6971925-T	NR	3E-6		13.91	[2.72-70.92]	Affymetrix [476796]	N
698	chr7	14898281	14898282	rs17168486	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	7p21.2	DGKB	rs17168486-T	0.19	3E-7		1.13	[1.07-1.19]	Affymetrix, Illumina [2500000] (imputed)	N
699	chr7	15063832	15063833	rs10244051	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	7p21.2	intergenic	rs10244051-C	0.46	1E-7	(GLU)	0.05	[0.03-0.06] mmol/l increase	Illumina [329091]	N
699	chr7	15064308	15064309	rs2191349	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	7p21.2	DGKB	rs2191349-?	NR	3E-21				Affymetrix, Illumina [~ 2400000] (imputed)	N
699	chr7	15064308	15064309	rs2191349	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	7p21.2	TMEM195, DGKB	rs2191349-T	0.52	3E-44	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
699	chr7	15064308	15064309	rs2191349	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	7p21.2	TMEM195, DGKB	rs2191349-T	0.52	3E-17	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
699	chr7	15064983	15064984	rs6947830	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	7p21.2	TMEM195, DGKB	rs6947830-A	0.46	1E-13	(GLU)	0.1	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
699	chr7	15065466	15065467	rs1974620	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	7p21.2	TMEM195, DGKB	rs1974620-?	NR	3E-11		0.063	[0.045-0.081] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
700	chr7	15133126	15133127	rs12699683	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		7p21.2	DGKB, AGMOI	rs12699683-A	0.09	7E-6		3.66	[2.08-6.45]	Illumina [518577]	N
702	chr7	15335935	15335936	rs12531027	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.2	AGMO	rs12531027-G	0.034	3E-7	(HRmax )	0.04	[NR] bpm increase	Illumina [899892]	N
704	chr7	15630870	15630871	rs11763353	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	7p21.2	MEOX2	rs11763353-?	NR	7E-7		0.192	[0.12-0.27] unit increase	Illumina [> 2500000] (imputed)	N
705	chr7	15733117	15733118	rs11764932	25493955	Gorski M	2014-12-10	Kidney Int	Genome-wide association study of kidney function decline in individuals of European descent.	Kidney function decline traits	up to 45,530 European ancestry individuals	up to 18,028 European ancestry individuals	7p21.2	MEOX2	rs11764932-A	0.36	4E-7	(Rapid decline overall)	0.09	[NR] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
705	chr7	15742785	15742786	rs10486776	17434096	Matarin M	2007-05-06	Lancet Neurol	A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.	Stroke	259 European ancestry cases, 269 European ancestry controls	NA	7p21.2	intergenic	rs10486776-?	0.10	6E-6		5.62	[2.66-11.9]	Illumina [408803]	N
705	chr7	15757999	15758000	rs2159222	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	7p21.2	intergenic	rs2159222-?	0.82	8E-6		1.16	[1.09-1.23]	Affymetrix, Illumina [~ 2300000] (imputed)	N
707	chr7	16107357	16107358	rs1528149	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	7p21.2	NR	rs1528149-C	0.648	5E-6	(EA)	0.047	[0.027-0.067] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
709	chr7	16326645	16326646	rs35681285	23151678	Takata R	2012-11-15	J Hum Genet	Impact of four loci on serum tamsulosin hydrochloride concentration.	Serum tamsulosin hydrochloride concentration	182 Japanese ancestry individuals	NA	7p21.2	ISPD	rs35681285-T	0.02	4E-7		16.75	[10.50-23.00] unit increase	Illumina [481678]	N
710	chr7	16500141	16500142	rs10270805	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	7p21.2	SOSTDC1, LOC442511, LOC729920	rs10270805-A	0.07	9E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
712	chr7	16707860	16707861	rs58370486	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		7p21.1	BZW2, TSPAN13	rs58370486-?	0.03	6E-11		0.36	unit decrease	Illumina [NR] (imputed)	N
713	chr7	16837453	16837454	rs2280655	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p21.1	NR	rs2280655-C	0.977065699331849	4E-6	(IGP9)	0.6294	[0.36-0.9] unit increase	Illumina [~ 2500000] (imputed)	N
713	chr7	16861848	16861849	rs10253216	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)	176 Japanese ancestry cases, 471 Japanese ancestry controls	NA	7p21.1	AGR2	rs10253216-T	0.468	2E-7	(Dominant model)	1.478	[1.155-1.891]	Illumina [733202]	N
713	chr7	16889811	16889812	rs1525739	23386860	Pasquale LR	2013-01-30	Front Genet	Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.	Type 2 diabetes (dietary heme iron intake interaction)	1,806 European ancestry cases, 2,965 European ancestry controls	NA	7p21.1	AGR2, AGR3	rs1525739-?	NR	6E-6		0.44	[NR] unit decrease	Affymetrix [681770]	N
714	chr7	16984279	16984280	rs1636744	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	7p21.1	AGR3	rs1636744-T	0.40	7E-9		0.091	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
715	chr7	17085320	17085321	rs6961860	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	7p21.1	LOC100131425	rs6961860-G	0.495	5E-6	(Recessive model)	1.283	[1.078-1.527]	Illumina [733202]	N
716	chr7	17284576	17284577	rs4410790	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption (cups per day)	91,462 European ancestry individuals	30,062 European ancestry individuals, 7,964 African American individuals	7p21.1	AHR	rs4410790-T	0.37	3E-17		0.1	[0.08-0.12] unit decrease	Affymetrix, Illumina [2373958] (imputed)	N
716	chr7	17284576	17284577	rs4410790	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	7p21.1	AHR	rs4410790-T	0.38	2E-19		0.15	[0.11-0.19] mg/day decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
716	chr7	17287105	17287106	rs6968554	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption	17,479 European ancestry high consumption individuals, 31,049 European ancestry no or low consumption individuals	6,497 European ancestry high consumption individuals, 432 African American high consumption individuals, 6,972 European ancestry no or low consumption individuals, 3,413 African American no or low consumption individuals	7p21.1	AHR	rs6968554-A	0.39	7E-15		0.2	[0.14-0.26] unit decrease	Affymetrix, Illumina [2376205] (imputed)	N
716	chr7	17287105	17287106	rs6968554	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7p21.1	AHR	rs6968554-A	0.38	9E-14	(caffeine)	0.064	[0.046-0.082] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
716	chr7	17287268	17287269	rs6968865	21357676	Sulem P	2011-02-28	Hum Mol Genet	Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.	Coffee consumption	5,840 European ancestry individuals, 771 Sorbian individuals	4,050 European ancestry individuals	7p21.1	AHR	rs6968865-T	0.593	2E-11		0.26	[0.15-0.36] cups per day increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
717	chr7	17309278	17309279	rs12670403	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	7p21.1	AHR	rs12670403-C	0.487	5E-15	(caffeine/quinate + 3 other traits)	0.294	[NR] unit increase	Affymetrix, Illumina [534665]	N
717	chr7	17318311	17318312	rs13236243	23834954	Kobayashi D	2013-07-08	Mol Pain	Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.	Sensory disturbances after bilateral sagittal split ramus osteotomy	Up to 105 individuals	Up to 200 individuals	7p21.1	LOC729939	rs13236243-?	NR	4E-6	(Hypoesthesia, Recessive)			Illumina [243229]	N
718	chr7	17442678	17442679	rs1077773	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p21.1	AHR	rs1077773-A	0.52	6E-9	(EA)	1.0747931		Affymetrix, Illumina [~ 9000000] (imputed)	N
718	chr7	17442678	17442679	rs1077773	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p21.1	AHR	rs1077773-A	0.52	6E-7	(EA)	1.0502108		Affymetrix, Illumina [~ 9000000] (imputed)	N
718	chr7	17561582	17561583	rs10499504	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	7p21.1	intergenic	rs10499504-?	0.11	4E-7	(clozapine-total cholesterol)			Affymetrix [492900]	N
721	chr7	17919257	17919258	rs4142995	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	7p21.1	SNX13	rs4142995-T	0.38	9E-12		0.026	[NR] unit decrease	NR [NR] (imputed)	N
722	chr7	17997611	17997612	rs10226084	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	7p21.1	SNx13, PRPS1L1	rs10226084-T	0.52	5E-10	(EA)	0.007	[0.005-0.009] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
724	chr7	18234856	18234857	rs1178326	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	7p21.1	HDAC9	rs1178326-C	0.01	2E-7		8.1	[NR]	Affymetrix [4893794] (imputed)	N
725	chr7	18375244	18375245	rs12666612	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.1	HDAC9	rs12666612-G	0.088	8E-6	(Vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
725	chr7	18428920	18428921	rs12155400	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	7p21.1	HDAC9	rs12155400-A	0.98	8E-6		0.73	[0.42-1.04] unit decrease	Illumina [2675979] (imputed)	N
726	chr7	18504507	18504508	rs213273	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	7p21.1	HDAC9	rs213273-?		2E-8	(Hispanic)		[NR]	Illumina [936149]	N
726	chr7	18517278	18517279	rs17347800	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	7p21.1	HDAC9	rs17347800-A	0.04	4E-7		0.51	[0.31-0.71] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
727	chr7	18723231	18723232	rs73313346	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p21.1	NR	rs73313346-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
727	chr7	18734064	18734065	rs12669789	25256182	Foroud T	2014-09-25	Stroke	Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.	Intracranial aneurysm	2,617 European ancestry cases, 2,548 European ancestry controls	1,516 European ancestry cases, 5,321 European ancestry controls	7p21.1	TWISTNB, MIR3146, TMEM196	rs12669789-C	NR	2E-6		1.3	[1.17-1.45]	Affymetrix [685281] (imputed)	N
728	chr7	18800412	18800413	rs11764116	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	7p21.1	HDAC9	rs11764116-A	NR	2E-6	(Analysis II)			Illumina [313720]	N
729	chr7	18877873	18877874	rs2073963	22693459	Li R	2012-05-31	PLoS Genet	Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.	Male-pattern baldness	3,891 European ancestry cases, 8,915 European ancestry controls	NA	7p21.1	HDAC9	rs2073963-G	0.530	1E-12		1.29	[1.20-1.38]	Affymetrix, Illumina [2391230] (imputed)	N
729	chr7	18980266	18980267	rs2853552	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.1	HDAC9	rs2853552-A	0.26	7E-6	(BMI z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
730	chr7	19031934	19031935	rs11984041	22306652	Bellenguez C	2012-02-05	Nat Genet	Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke.	Stroke	3,548 European ancestry cases, 5,972 European ancestry controls	6,594 European ancestry cases, 34,864 European ancestry controls	7p21.1	HDAC9	rs11984041-A	0.09	2E-11	(LVD)	1.42	[1.28-1.57]	Illumina [495851]	N
730	chr7	19037660	19037661	rs7798197	25256182	Foroud T	2014-09-25	Stroke	Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.	Intracranial aneurysm	2,617 European ancestry cases, 2,548 European ancestry controls	1,516 European ancestry cases, 5,321 European ancestry controls	7p21.1	TWISTNB, MIR3146, TMEM196	rs7798197-A	NR	5E-6		1.18	[1.10-1.27]	Affymetrix [685281] (imputed)	N
730	chr7	19049387	19049388	rs2107595	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Large artery stroke	2,167 cases, 49,159 controls	NA	7p21.1	HDAC9	rs2107595-A		3E-12		1.39	[1.27-1.52]	Affymetrix, Illumina [~ 2400000] (imputed)	N
730	chr7	19049387	19049388	rs2107595	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	7p21.1	HDAC9	rs2107595-?		3E-12				Affymetrix, Illumina [up to 2500000] (imputed)	N
730	chr7	19049387	19049388	rs2107595	23041239	Traylor M	2012-10-05	Lancet Neurol	Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.	Stroke (ischemic)	12,389 European ancestry cases, 62,004 European ancestry controls	1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls	7p21.1	HDAC9	rs2107595-A	0.16	4E-6	(IS)	1.12	[1.07-1.17]	Affymetrix, Illumina [NR] (imputed)	N
730	chr7	19049387	19049388	rs2107595	23041239	Traylor M	2012-10-05	Lancet Neurol	Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.	Stroke (ischemic)	12,389 European ancestry cases, 62,004 European ancestry controls	1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls	7p21.1	HDAC9	rs2107595-A	0.16	2E-16	(LVD)	1.39	[1.27-1.53]	Affymetrix, Illumina [NR] (imputed)	N
730	chr7	19106538	19106539	rs430	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.1	TWIST1	rs430-A	0.016	4E-7	(Urinary free epinephrine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
731	chr7	19160896	19160897	rs10275272	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	7p21.1	intergenic	rs10275272-?		8E-6	(disease-free survival)	3.19	[1.92-5.31]	Illumina [729737]	N
731	chr7	19164879	19164880	rs56868568	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7p21.1	TWIST1, FERD3L	rs56868568-G	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
731	chr7	19248277	19248278	rs17140875	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p21.1	FERD3L	rs17140875-A	0.051	5E-6	(Sleep duration )	0.02	[NR] min/d increase	Illumina [899892]	N
732	chr7	19296967	19296968	rs10233425	24931836	Diekstra FP	2014-06-27	Ann Neurol	C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.	Amyotrophic lateral sclerosis	4,377 European ancestry cases, 13,017 European ancestry controls	NA	7p21.1	intergenic	rs10233425-C	0.01	8E-6		1.88	[NR]	Illumina [~ 1400000] (imputed)	N
733	chr7	19477980	19477981	rs7780001	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis in non-asthmatics	249 European ancestry cases, 164 Latino cases, 248 African American/Afro-Caribbean cases, 674 European ancestry controls, 588 Latino controls, 464 African American/Afro-Caribbean controls	NA	7p21.1	NR	rs7780001-?	0.13	4E-7		1.64	[1.25-2.44]	Affymetrix, Illumina [NR] (imputed)	N
733	chr7	19477980	19477981	rs7780001	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	7p21.1	FERD3L	rs7780001-?	NR	2E-8		1.37	[1.19-1.61]	Affymetrix, Illumina [NR] (imputed)	N
734	chr7	19611306	19611307	rs10230207	25256182	Foroud T	2014-09-25	Stroke	Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.	Intracranial aneurysm	2,617 European ancestry cases, 2,548 European ancestry controls	1,516 European ancestry cases, 5,321 European ancestry controls	7p21.1	TWISTNB, MIR3146, TMEM196	rs10230207-T	NR	1E-9		1.21	[1.14-1.28]	Affymetrix [685281] (imputed)	N
734	chr7	19616521	19616522	rs4470914	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	7p21.1	TWISTNB	rs4470914-T	0.28	2E-9		0.04	[0.024-0.056] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
734	chr7	19616521	19616522	rs4470914	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	7p21.1	TWISTNB	rs4470914-T	0.18	9E-10		0.029	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
736	chr7	19805479	19805480	rs6977660	17903292	Hwang SJ	2007-09-19	BMC Med Genet	A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.	Thyroid stimulating hormone	883 individuals	NA	7p21.1	intergenic	rs6977660-?	NR	4E-6				Affymetrix [70897]	N
737	chr7	20047574	20047575	rs38152	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	7p21.1	intergenic	rs38152-?	NR	7E-8	(progression)			Illumina [NR]	N
738	chr7	20086981	20086982	rs6954796	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Non-word repetition	6,649 European ancestry children and adolescents	NA	7p21.1	intergenic	rs6954796-C	0.13	2E-6		0.124	[0.073-0.175] unit increase	Illumina [~ 2400000] (imputed)	N
739	chr7	20255704	20255705	rs3095008	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide)	54 Japanese ancestry cases, 39 Japanese ancestry controls	NA	7p21.1	MACC1	rs3095008-T	0.846	9E-6	(Dominant model)			Illumina [733202]	N
742	chr7	20647014	20647015	rs10950821	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	7p21.1	SP8, ABCB5, LOC402642	rs10950821-G	0.26	7E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
742	chr7	20681849	20681850	rs73276602	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p21.1	ABCB5	rs73276602-?	NR	1E-7				Affymetrix [5486770] (imputed)	N
743	chr7	20791997	20791998	rs2108258	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	7p21.1	ABCB5	rs2108258-?	NR	2E-6	(Comparatively Older)			Affymetrix, Illumina [~ 1400000] (imputed)	N
744	chr7	20862301	20862302	rs2709736	20386566	Lee MT	2010-04-13	Mol Psychiatry	Genome-wide association study of bipolar I disorder in the Han Chinese population.	Bipolar I disorder	1,000 Han Chinese ancestry cases, 1,000 Han Chinese ancestry controls	409 Han Chinese ancestry cases, 1,000 Han Chinese ancestry controls	7p21.1	SP8	rs2709736-G	NR	5E-7		1.44	[1.25-1.66]	Illumina [516919]	N
744	chr7	20885094	20885095	rs13245023	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p21.1	NR	rs13245023-C	0.964100804151624	9E-6	(IGP77)	0.4218	[0.24-0.61] unit decrease	Illumina [~ 2500000] (imputed)	N
745	chr7	20994490	20994491	rs12155172	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	7p15.3	SP8, ABCB5, RPL23P8	rs12155172-A	0.23	5E-13		1.11	[1.07-1.15]	Illumina [~ 2600000] (imputed)	N
745	chr7	20994490	20994491	rs12155172	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	7p15.3	NR	rs12155172-?	0.20	9E-6		1.05	[1.00-1.10]	Illumina [541129]	N
746	chr7	21147677	21147678	rs11974269	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p15.3	ASS1P11	rs11974269-C	0.128	8E-8	(Urinary creatinine )	0.05	[NR] mmol/d increase	Illumina [899892]	N
746	chr7	21147677	21147678	rs11974269	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p15.3	ASS1P11	rs11974269-C	0.128	5E-6	(Urinary free dopamine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
746	chr7	21163354	21163355	rs10950840	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p15.3	ASS1P11	rs10950840-G	0.213	7E-6	(Urinary free epinephrine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
746	chr7	21222789	21222790	rs6971109	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	7p15.3	intergenic	rs6971109-?	NR	7E-6				NR [~ 2000000]	N
749	chr7	21504426	21504427	rs17144465	20125088	Shi J	2010-02-02	Mol Psychiatry	Genome-wide association study of recurrent early-onset major depressive disorder.	Major depressive disorder	1,020 European ancestry cases, 1,636 European ancestry controls	NA	7p15.3	SP4	rs17144465-G	0.04	6E-6		1.82		Affymetrix [671424]	N
749	chr7	21504426	21504427	rs17144465	20038947	Shyn SI	2009-12-29	Mol Psychiatry	Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.	Major depressive disorder (broad)	3,957 European ancestry cases, 3,428 European ancestry controls	NA	7p15.3	SP4	rs17144465-G	0.03	8E-7		1.56	[NR]	Affymetrix, Perlegen [2391203] (imputed)	N
749	chr7	21520211	21520212	rs73060317	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p15.3	NR	rs73060317-T	NR	8E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
749	chr7	21584087	21584088	rs2285947	23103227	Jin G	2012-10-25	Am J Hum Genet	Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.	Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)	2,331 Han Chinese ancestry lung cancer cases, 1,006 Han Chinese ancestry non-cardia gastric cancer cases, 2,031 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 4,006 Han Chinese ancestry controls	2,665 Han Chinese ancestry lung cancer cases, 3,330 Han Chinese ancestry non-cardia gastric cancer cases, 3,006 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 11,436 Han Chinese ancestry controls	7p15.3	SP4, DNAH11	rs2285947-A	0.27	3E-6	(ESCC)	1.14	[1.08-1.21]	Affymetrix [NR]	N
749	chr7	21584087	21584088	rs2285947	23103227	Jin G	2012-10-25	Am J Hum Genet	Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.	Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)	2,331 Han Chinese ancestry lung cancer cases, 1,006 Han Chinese ancestry non-cardia gastric cancer cases, 2,031 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 4,006 Han Chinese ancestry controls	2,665 Han Chinese ancestry lung cancer cases, 3,330 Han Chinese ancestry non-cardia gastric cancer cases, 3,006 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 11,436 Han Chinese ancestry controls	7p15.3	SP4, DNAH11	rs2285947-A	0.27	1E-6	(NCGC)	1.14	[1.08-1.21]	Affymetrix [NR]	N
749	chr7	21584087	21584088	rs2285947	23103227	Jin G	2012-10-25	Am J Hum Genet	Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.	Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)	2,331 Han Chinese ancestry lung cancer cases, 1,006 Han Chinese ancestry non-cardia gastric cancer cases, 2,031 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 4,006 Han Chinese ancestry controls	2,665 Han Chinese ancestry lung cancer cases, 3,330 Han Chinese ancestry non-cardia gastric cancer cases, 3,006 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 11,436 Han Chinese ancestry controls	7p15.3	SP4, DNAH11	rs2285947-A	0.27	1E-16	(All Cancers)	1.17	[1.12-1.21]	Affymetrix [NR]	N
749	chr7	21584087	21584088	rs2285947	23103227	Jin G	2012-10-25	Am J Hum Genet	Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.	Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)	2,331 Han Chinese ancestry lung cancer cases, 1,006 Han Chinese ancestry non-cardia gastric cancer cases, 2,031 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 4,006 Han Chinese ancestry controls	2,665 Han Chinese ancestry lung cancer cases, 3,330 Han Chinese ancestry non-cardia gastric cancer cases, 3,006 Han Chinese ancestry esophageal squamous-cell carcinoma cases, 11,436 Han Chinese ancestry controls	7p15.3	DNAH11, SP4	rs2285947-A	0.26	2E-8	(Lung Cancer)	1.17	[1.11-1.24]	Affymetrix [NR]	N
749	chr7	21598752	21598753	rs56130071	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	7p15.3	DNAH11	rs56130071-C	0.21	2E-14		0.057	[0.043-0.071] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
749	chr7	21607282	21607283	rs55649657	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	7p15.3	DNAH11	rs55649657-G	0.21	4E-13		0.052	[0.038-0.066] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
749	chr7	21607351	21607352	rs12670798	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	7p15.3	DNAH11	rs12670798-C	0.25	5E-14		0.034	[NR] unit increase	NR [NR] (imputed)	N
749	chr7	21607351	21607352	rs12670798	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	7p15.3	DNAH11	rs12670798-C	0.25	1E-16		0.036	[NR] unit increase	NR [NR] (imputed)	N
749	chr7	21607351	21607352	rs12670798	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	7p15.3	DNAH11	rs12670798-C	0.23	7E-10		1.26	[0.87-1.65] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
749	chr7	21607351	21607352	rs12670798	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	7p15.3	DNAH11	rs12670798-T	0.15	7E-10		1.7	[1.15-2.25] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
749	chr7	21607351	21607352	rs12670798	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	7p15.3	DNAH11	rs12670798-G	0.24	6E-9		0.09	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
749	chr7	21607351	21607352	rs12670798	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	7p15.3	DNAH11	rs12670798-G	0.24	9E-7		0.06	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
750	chr7	21742973	21742974	rs368331	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Whole-brain volume	434 European ancestry mild cognitive impairment cases, 245 European ancestry Alzheimer's disease cases, 284 European ancestry controls	NA	7p15.3	DNAH11	rs368331-?	NR	4E-6		0.021	[NR] unit decrease	Illumina [478011]	N
750	chr7	21742973	21742974	rs368331	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	7p15.3	DNAH11	rs368331-?	NR	2E-6		0.009	[NR] unit increase	Illumina [478011]	N
751	chr7	21861111	21861112	rs2390593	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	7p15.3	DNAH11	rs2390593-?	NR	4E-6	(EA)	0.0141	[0.008135-0.02006] unit increase	Illumina [1530316]	N
752	chr7	21928078	21928079	rs57104699	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	7p15.3	DNAH11, CDCA7L	rs57104699-C	0.66	2E-8		0.19	[NR] unit increase	Illumina [12100000] (imputed)	N
752	chr7	21928078	21928079	rs57104699	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	7p15.3	CDCA7L, DNAH11	rs57104699-C	0.66	4E-8		0.2	unit increase	Illumina [12100000] (imputed)	N
752	chr7	21938239	21938240	rs4487645	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		7p15.3	NR	rs4487645-C	0.65	1E-9	(HD vs. controls)	1.43	[1.27-1.60]	Illumina [414804]	N
752	chr7	21938239	21938240	rs4487645	22120009	Broderick P	2011-11-27	Nat Genet	Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.	Multiple myeloma	1,675 European ancestry cases, 5,903 European ancestry controls	169 European ancestry cases, 927 European ancestry controls	7p15.3	DNAH11	rs4487645-C	0.65	3E-14		1.38	[1.28-1.50]	Illumina [422839]	N
753	chr7	22024039	22024040	rs1175000	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	7p15.3	CDCA7L	rs1175000-C	0.40	5E-6		0.05	[0.03-0.07] cm increase	Illumina [420885]	N
753	chr7	22027211	22027212	rs7783529	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	7p15.3	CDCA7L	rs7783529-C	0.63	4E-6	(women)	0.107	[0.062-0.152] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
753	chr7	22109458	22109459	rs10499559	17903292	Hwang SJ	2007-09-19	BMC Med Genet	A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.	Thyroid stimulating hormone	883 individuals	NA	7p15.3	RAPGEF5	rs10499559-?	NR	8E-6				Affymetrix [70897]	N
756	chr7	22514052	22514053	rs17364464	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	7p15.3	RAPGEF5, IL6	rs17364464-?	0.08	4E-6		1.76	[1.38-2.25]	Affymetrix [832357]	N
758	chr7	22704625	22704626	rs57375391	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	7p15.3	LOC401312	rs57375391-?		2E-6		0.497	[NR] unit decrease	Illumina [5970354] (imputed)	N
758	chr7	22732838	22732839	rs2097677	21196492	Okada Y	2010-12-31	Hum Mol Genet	Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.	C-reactive protein	10,112 Japanese ancestry individuals	2,742 Japanese ancestry individuals	7p15.3	IL6	rs2097677-A	0.19	4E-11		0.101	[0.07-0.13] unit increase	Illumina [477784]	N
758	chr7	22756462	22756463	rs10155981	22085899	Chen G	2011-11-16	Eur J Hum Genet	UGT1A1 is a major locus influencing bilirubin levels in African Americans.	Bilirubin levels	619 African American individuals	NA	7p15.3	AC073072.5	rs10155981-T	0.418	2E-7		0.126	[0.079-0.173] unit increase	Affymetrix [808465]	N
758	chr7	22766644	22766645	rs1800795	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels in APOEe4- carriers	123 Alzheimer's disease cases, 270 controls	NA	7p15.3	IL6	rs1800795-?		7E-8		0.375	[NR] unit increase	Illumina [5970354] (imputed)	N
759	chr7	22856605	22856606	rs2286503	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	7p15.3	TOMM7, IL6	rs2286503-T	0.36	7E-9	(EA)	0.006	[0.004-0.008] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
759	chr7	22919807	22919808	rs6950451	25475840	Colodro-Conde L	2014-12-05	Twin Res Hum Genet	A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan.	Breastfeeding duration	1,521 mothers from 1,073 families	NA	7p15.3	FAM126A, SNORD93	rs6950451-?	NR	1E-7		0.259	[0.16-0.36] unit decrease	Illumina [6590000] (imputed)	N
760	chr7	22985009	22985010	rs2286492	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	7p15.3	NR	rs2286492-?	NR	8E-6	(recessive)			Affymetrix [NR]	N
760	chr7	22994185	22994186	rs73082373	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	7p15.3	FAM126A	rs73082373-T	0.95	6E-6	(Age 20-60 years)	0.126	[0.071-0.181] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
762	chr7	23220638	23220639	rs858249	25584925	Chen W	2015-01-13	Ann Am Thorac Soc	A Genome-Wide Association Study of Chronic Obstructive Pulmonary Disease in Hispanics.	Chronic obstructive pulmonary disease	94 Costa Rican founder population smoker cases, 412 Costa Rican founder population smoker controls, 63 Hispanic ancestry cases, 619 Hispanic ancestry controls	47 Hispanic ancestry smoker cases, 290 Hispanic ancestry smoker controls	7p15.3	KLHL7, NUPL2	rs858249-A	0.91	6E-8		1.1	[NR] unit decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
762	chr7	23293745	23293746	rs199347	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	7p15.3	GPNMB	rs199347-A	0.59	1E-12		1.11	[1.08-1.14]	Illumina [7893274] (imputed)	N
763	chr7	23420766	23420767	rs375092	23903073	Kim HN	2013-08-01	J Hum Genet	Genome-wide association study of the five-factor model of personality in young Korean women.	Personality dimensions	1,089 Korean ancestry females	2,090 Korean ancestry individuals	7p15.3	IGF2BP3	rs375092-C		5E-6	(Conscientiousness)	0.02	[-0.078-0.118] unit increase	Illumina [2053685] (imputed)	N
764	chr7	23480466	23480467	rs11763760	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p15.3	NR	rs11763760-C	0.797056939029818	2E-6	(IGP54)	0.1815	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
764	chr7	23482684	23482685	rs6957923	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	7p15.3	IGF2BP3	rs6957923-G	0.63	5E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
764	chr7	23502973	23502974	rs12534093	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	7p15.3	IGF2BP3	rs12534093-A	0.221	8E-8		0.064	[0.040-0.088] unit decrease	Affymetrix, Illumina [2193675] (imputed)	N
764	chr7	23502973	23502974	rs12534093	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	7p15.3	IGF2BP3	rs12534093-A	0.22	2E-14		0.034	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
764	chr7	23521315	23521316	rs12538407	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	7p15.3	IGF2BP3	rs12538407-A	0.602	4E-26		0.032	[0.026-0.038] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
765	chr7	23624474	23624475	rs227932	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p15.3	NR	rs227932-G	NR	9E-7		1.0869565	[NR]	Illumina [7158791] (imputed)	N
767	chr7	23915675	23915676	rs10262624	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p15.3	NR	rs10262624-C	NR	2E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
768	chr7	24107325	24107326	rs10216322	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	7p15.3	intergenic	rs10216322-?		8E-6	(EA)	4.776	[NR]	Illumina [936149]	N
769	chr7	24181054	24181055	rs198712	25256105	Freitag-Wolf S	2014-09-25	J Clin Periodontol	Genome-wide exploration identifies sex-specific genetic effects of alleles upstream NPY to increase the risk of severe periodontitis in men.	Aggressive periodontitis (sex interaction)	329 European ancestry cases, 983 European ancestry controls	382 European ancestry cases, 489 European ancestry controls	7p15.3	NPY	rs198712-?	0.37	4E-6		2.36	[1.63-3.42]	Affymetrix [287224]	N
769	chr7	24224731	24224732	rs156299	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	7p15.3	NPY	rs156299-G	0.43	1E-6	(Age 6)	0.95	[0.93-0.97] unit increase	Illumina [2461244] (imputed)	N
769	chr7	24240164	24240165	rs886448	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	7p15.3	intergenic	rs886448-?	NR	7E-8				Affymetrix [786195]	N
770	chr7	24378039	24378040	rs2521634	23459936	Divaris K	2013-03-04	Hum Mol Genet	Exploring the genetic basis of chronic periodontitis: a genome-wide association study.	Periodontitis	4,504 European ancestry individuals	656 European ancestry and African American individuals	7p15.3	NPY	rs2521634-?	NR	4E-7	(Severe CPd)	1.49	[1.28-1.73]	Affymetrix [2135236] (imputed)	N
772	chr7	24514100	24514101	rs28459952	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	7p15.3	NR	rs28459952-?	NR	2E-6	(EA)	0.4564	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
773	chr7	24692551	24692552	rs2721800	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	7p15.3	intergenic	rs2721800-C		6E-7	(Modelling analysis)	1.08	[1.05-1.12]	NR [1252901] (imputed)	N
773	chr7	24719605	24719606	rs2529049	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	7p15.3	MPP6, DFNA5	rs2529049-G	0.76	1E-6	(men)	0.119	[0.072-0.166] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
773	chr7	24735003	24735004	rs112509803	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p15.3	NR	rs112509803-C	NR	7E-7		1.09	[NR]	Illumina [7158791] (imputed)	N
776	chr7	25133848	25133849	rs39453	23300701	Jiao S	2012-12-26	PLoS One	Genome-wide search for gene-gene interactions in colorectal cancer.	Colorectal cancer	8,380 European ancestry cases, 10,558 European ancestry controls	2,527 European ancestry cases, 2,628 European ancestry controls	7p15.3	intergenic	rs39453-?	0.63	2E-6	(rs6687758, known)	1.28	[1.16-1.43]	Illumina [2011668]	N
776	chr7	25161601	25161602	rs1861525	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		7p15.3	CYCS	rs1861525-?	0.03	2E-7		0.25	unit decrease	Illumina [NR] (imputed)	N
780	chr7	25567854	25567855	rs10807828	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	7p15.2	NPVF, UBA52P1	rs10807828-C	0.51	7E-6		1.098901	[1.05-1.15]	NR [NR]	N
780	chr7	25608408	25608409	rs17151904	20009918	Shrestha S	2010-01-01	AIDS	A genome-wide association study of carotid atherosclerosis in HIV-infected men.	Carotid atherosclerosis in HIV infection	177 European ancestry individuals	NA	7p15.2	intergenic	rs17151904-A	0.20	1E-6	(internal cIMT)			Illumina [311194]	N
780	chr7	25612660	25612661	rs975369	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	7p15.2	NPVF	rs975369-?	NR	8E-6	(Afro-Caribbean)	4.55	[2.34-8.83]	Illumina [2485249] (imputed)	N
782	chr7	25858613	25858614	rs10245353	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	NFE2L3	rs10245353-A	0.2047	2E-16		0.0347	[0.026-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
782	chr7	25858613	25858614	rs10245353	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	NFE2L3	rs10245353-A	0.1998	8E-16	(EA)	0.0348	[0.026-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
782	chr7	25858613	25858614	rs10245353	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	NFE2L3	rs10245353-A	0.1977	1E-13	(women)	0.0423	[0.031-0.053] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
782	chr7	25858613	25858614	rs10245353	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	NFE2L3	rs10245353-A	0.1961	8E-13	(EA, women)	0.0414	[0.03-0.053] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
782	chr7	25861638	25861639	rs3902751	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	NFE2L3	rs3902751-A	0.2675	2E-13		0.0277	[0.02-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
782	chr7	25861638	25861639	rs3902751	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	NFE2L3	rs3902751-A	0.2613	1E-12	(women)	0.0358	[0.026-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
782	chr7	25861638	25861639	rs3902751	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	NFE2L3	rs3902751-A	0.2501	6E-14	(EA)	0.0294	[0.022-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
782	chr7	25861638	25861639	rs3902751	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	NFE2L3	rs3902751-A	0.2474	1E-13	(EA, women)	0.0386	[0.028-0.049] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
782	chr7	25871108	25871109	rs1055144	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	7p15.2	NFE2L3	rs1055144-T	0.21	1E-24		0.04	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
782	chr7	25901638	25901639	rs12700667	23104006	Nyholt DR	2012-10-28	Nat Genet	Genome-wide association meta-analysis identifies new endometriosis risk loci.	Endometriosis	3,181 European ancestry cases, 8,075 European ancestry controls, 1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls	1,044 Japanese ancestry, 4,017 Japanese ancestry controls	7p15.2	intergenic	rs12700667-A	0.744	4E-9		1.18	[1.11-1.25]	Illumina [407632]	N
782	chr7	25901638	25901639	rs12700667	21151130	Painter JN	2010-12-12	Nat Genet	Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.	Endometriosis	3,194 European ancestry cases, 7,060 European ancestry controls	2,392 European ancestry cases, 2,271 European ancestry controls	7p15.2	intergenic	rs12700667-A	0.74	1E-9		1.2	[1.13-1.27]	Illumina [504723]	N
782	chr7	25950544	25950545	rs10261878	23583978	Monda KL	2013-04-14	Nat Genet	A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.	Body mass index	37,956 African American individuals, 1,188 Nigerian ancestry individuals	27,661 African America/Afro-Caribbean individuals, 4,607 Sub-Saharan African ancestry individuals, 123,706 European ancestry inidividuals	7p15.2	NFE2L3, MIR148A	rs10261878-C	0.94	1E-10		0.032	[0.022-0.042] unit increase	Affymetrix, Illumina [3283202] (imputed)	N
783	chr7	25991825	25991826	rs4722551	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	7p15.2	MIR148A	rs4722551-C	0.2	9E-11		0.023	[NR] mg/dL increase	NR [NR] (imputed)	N
783	chr7	25991825	25991826	rs4722551	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	7p15.2	MIR148A	rs4722551-C	0.2	4E-14		0.039	[NR] unit increase	NR [NR] (imputed)	N
783	chr7	25991825	25991826	rs4722551	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	7p15.2	MIR148A	rs4722551-C	0.2	7E-9		0.029	[NR] unit increase	NR [NR] (imputed)	N
783	chr7	26008051	26008052	rs745580	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p15.2	NFE2L3	rs745580-A	0.438	3E-7	(Dinner intake, adj EER )	0.04	[NR] kcal increase	Illumina [899892]	N
784	chr7	26122422	26122423	rs6945071	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	7p15.2	NFE2L3	rs6945071-G	0.16	8E-7	(Right superior frontal gyrus)	1035.0	[NR] unit decrease	Affymetrix [517946]	N
784	chr7	26183365	26183366	rs4722585	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	7p15.2	NFE2L3	rs4722585-?		5E-6	(AA)	0.2	[NR]	Illumina [936149]	N
784	chr7	26183365	26183366	rs4722585	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	7p15.2	NFE2L3	rs4722585-?		5E-6	(AA)	0.2	[NR]	Illumina [936149]	N
786	chr7	26397238	26397239	rs1534696	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	SNX10	rs1534696-C	0.4366	5E-8	(EA, women)	0.0266	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
786	chr7	26397238	26397239	rs1534696	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	SNX10	rs1534696-C	0.4328	2E-8	(women)	0.0267	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
787	chr7	26481803	26481804	rs10951138	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	7p15.2	SNX10	rs10951138-A	0.18	3E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
787	chr7	26557617	26557618	rs886716	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	7p15.2	intergenic	rs886716-?	0.69	8E-6	(CPDBI)	1.52	[NR]	Illumina [~ 518000]	N
787	chr7	26606004	26606005	rs7800418	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	7p15.2	C7orf71	rs7800418-T	0.324	7E-7	(3MSE)	1.9628	[1.20-2.73] unit decrease	Affymetrix [> 371951] (imputed)	N
790	chr7	26891664	26891665	rs7804356	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	7p15.2	intergenic	rs7804356-?	0.76	5E-9		1.14	[1.06-1.22]	Affymetrix, Illumina [841622] (imputed)	N
790	chr7	26892439	26892440	rs10486483	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p15.2	NR	rs10486483-A	0.2371	2E-7	(EA)	1.0620762	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
790	chr7	26892439	26892440	rs10486483	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p15.2	NR	rs10486483-A	0.2371	2E-11	(EA)	1.0987586	[1.07-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
790	chr7	26892439	26892440	rs10486483	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	7p15.2	intergenic	rs10486483-A	0.247	3E-8		1.089	[1.048-1.13]	Affymetrix, Illumina [1230000] (imputed)	N
790	chr7	26994166	26994167	rs17436410	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	7p15.2	NR	rs17436410-G	NR	4E-6	(phenotype 2)	2.0	[NR]	Illumina [> 8000000] (imputed)	N
792	chr7	27168589	27168590	rs1801085	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	7p15.2	HOXA4	rs1801085-G	0.091	1E-11		1.45	[NR]	Illumina [8207076] (imputed)	N
792	chr7	27223770	27223771	rs7801581	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	HOXA11	rs7801581-T	0.2448	1E-6	(men)	0.0286	[0.017-0.04] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
792	chr7	27223770	27223771	rs7801581	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	HOXA11	rs7801581-T	0.2435	3E-10		0.0259	[0.018-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
792	chr7	27223770	27223771	rs7801581	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	HOXA11	rs7801581-T	0.2432	2E-6	(EA, men)	0.0286	[0.017-0.041] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
792	chr7	27223770	27223771	rs7801581	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	HOXA11	rs7801581-T	0.2424	7E-6	(women)	0.025	[0.014-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
792	chr7	27223770	27223771	rs7801581	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	HOXA11	rs7801581-T	0.2424	4E-10	(EA)	0.0265	[0.018-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
792	chr7	27223770	27223771	rs7801581	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7p15.2	HOXA11	rs7801581-T	0.2418	8E-6	(EA, women)	0.0254	[0.014-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
792	chr7	27231761	27231762	rs4722672	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p15.2	NR	rs4722672-G	0.1881	5E-6	(EA)	1.0755208	[1.04-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
792	chr7	27231761	27231762	rs4722672	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	7p15.2	intergenic	rs4722672-C	0.183	2E-8		1.091	[1.043-1.14]	Affymetrix, Illumina [1230000] (imputed)	N
793	chr7	27330055	27330056	rs13225783	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	7p15.2	EVX1	rs13225783-?	0.05	7E-6	(EA)	1.38	[0.96-1.99]	Affymetrix, Illumina [2478304] (imputed)	N
793	chr7	27335560	27335561	rs11564024	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	7p15.2	LOC392008	rs11564024-C		3E-8	(AA)			Illumina [NR]	N
793	chr7	27337866	27337867	rs17428471	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	7p15.2	HOXA, EVX1	rs17428471-T	0.14	2E-9	(DBP)	0.61	[0.34-0.88] unit increase	Affymetrix, Illumina [~ 2420000] (imputed)	N
793	chr7	27337866	27337867	rs17428471	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	7p15.2	HOXA, EVX1	rs17428471-T	0.14	2E-12	(SBP)	1.2	[0.73-1.67] unit increase	Affymetrix, Illumina [~ 2420000] (imputed)	N
794	chr7	27519117	27519118	rs6462018	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	7p15.2	EVX1, HIBADH	rs6462018-G	0.504	4E-6		0.084	[0.031-0.137] unit decrease	Illumina [6391392] (imputed)	N
796	chr7	27784948	27784949	rs10214930	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	7p15.2	TAX1BP1	rs10214930-G	0.764	8E-12		1.33	[NR]	Illumina [8207076] (imputed)	N
798	chr7	27976562	27976563	rs10486567	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	7p15.1	NR	rs10486567-G	0.77	3E-9	(European)	1.17	[1.11-1.23]	Affymetrix [up to 19977088] (imputed)	N
798	chr7	27976562	27976563	rs10486567	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	7p15.1	NR	rs10486567-G	0.77	3E-11		1.17	[1.12-1.22]	Affymetrix [up to 19977088] (imputed)	N
798	chr7	27976562	27976563	rs10486567	18264096	Thomas G	2008-02-10	Nat Genet	Multiple loci identified in a genome-wide association study of prostate cancer.	Prostate cancer	1,172 European ancestry cases, 1,157 European ancestry controls	3,941 European ancestry cases, 3,964 European ancestry controls	7p15.1	JAZF1	rs10486567-G	0.77	2E-6		1.12	[1.02-1.25]	Illumina [527869]	N
798	chr7	27977362	27977363	rs7808935	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	7p15.1	NR	rs7808935-T	0.766	3E-11		1.17	[1.12-1.22]	Affymetrix [up to 19977088] (imputed)	N
798	chr7	28004197	28004198	rs4722750	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	7p15.1	JAZF1	rs4722750-T	0.1	9E-6	(EA-triglyceride response)	31.88	[17.85-45.91] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
799	chr7	28096198	28096199	rs7785730	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Free thyroxine concentration	2,789 Korean ancestry individuals	829 Korean ancestry individuals	7p15.1	JAZF1	rs7785730-G	0.48	6E-6		0.106	[0.061-0.151] ng/dl increase	Affymetrix [1418709] (imputed)	N
799	chr7	28174985	28174986	rs67250450	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	7p15.1	JAZF1	rs67250450-T	0.79	3E-9	(EA)	1.11	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
799	chr7	28174985	28174986	rs67250450	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	7p15.1	JAZF1	rs67250450-T	0.58	4E-9		1.1	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
800	chr7	28180555	28180556	rs864745	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	7p15.1	JAZF1, CREB5	rs864745-T	0.497	4E-9		1.087	[1.052-1.123]	Affymetrix, Illumina [1230000] (imputed)	N
800	chr7	28180555	28180556	rs864745	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	7p15.1	JAZF1	rs864745-T	0.50	5E-14		1.1	[1.07-1.13]	Affymetrix, Illumina [2202892] (imputed)	N
800	chr7	28185090	28185091	rs849141	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	7p15.1	JAZF1	rs849141-?	0.23	3E-11		0.08	[0.06-0.10] s.d. increase	Illumina [229216]	N
800	chr7	28189082	28189083	rs1029534	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	7p15.1	JAZF1	rs1029534-T	0.31	8E-14		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
800	chr7	28189410	28189411	rs1635852	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	7p15.1	JAZF1	rs1635852-?		2E-8		1.14	[NR]	Illumina [NR]	N
800	chr7	28189410	28189411	rs1635852	18952825	Johansson A	2008-10-24	Hum Mol Genet	Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.	Height	3,925 European ancestry individuals	Up to 39,859 European ancestry individuals, Up to 1,148 African American individuals	7p15.1	JAZF1	rs1635852-A	NR	9E-10		0.25	[0.17-0.33] cm increase	Illumina [NR]	N
800	chr7	28189945	28189946	rs1708299	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	7p15.1	JAZF1	rs1708299-A	0.3	6E-25		0.04	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
800	chr7	28190120	28190121	rs10276381	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p15.1	NR	rs10276381-?	NR	7E-10	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
800	chr7	28196221	28196222	rs849134	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	7p15.1	JAZF1	rs849134-A		3E-9		1.13	[1.09-1.18]	Affymetrix, Illumina [2426886] (imputed)	N
800	chr7	28196412	28196413	rs849135	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	7p15.1	JAZF1	rs849135-G	0.52	2E-9		1.12	[1.08-1.17]	Affymetrix, Illumina [2500000] (imputed)	N
800	chr7	28205302	28205303	rs552707	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	7p15.1	JAZF1	rs552707-T	0.305	9E-46		0.046	[0.04-0.052] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
800	chr7	28229041	28229042	rs550448	21980299	Bradfield JP	2011-09-29	PLoS Genet	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Type 1 diabetes	9,934 European ancestry cases, 16,956 European ancestry controls	1,120 European ancestry affected trios	7p15.1	LOC100128081	rs550448-?	0.86	5E-7		1.32	[NR]	Affymetrix, Illumina [~ 2540000] (imputed)	N
800	chr7	28271689	28271690	rs73302615	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7p15.1	intergenic	rs73302615-A	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
801	chr7	28391046	28391047	rs11772815	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Folding of antihelix	4,919 Latin American individuals	NA	7p15.1	NR	rs11772815-?	NR	8E-7	(FDR adjusted)			Illumina [671038]	N
801	chr7	28391141	28391142	rs11765845	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	7p15.1	CREB5, tcag7.873, LOC401317	rs11765845-A	0.29	7E-6		1.02	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
801	chr7	28432475	28432476	rs7799265	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	7p15.1	CREB5	rs7799265-?	0.05	2E-6	(FEV1 65%)	1.5385	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
802	chr7	28475254	28475255	rs79835348	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7p15.1	intergenic	rs79835348-C	0.007	2E-6		7.39	[2.82-19.36]	Illumina [1556551]	N
804	chr7	28762962	28762963	rs2237349	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	7p15.1	CREB5	rs2237349-?	NR	5E-6				Affymetrix [504219]	N
804	chr7	28812492	28812493	rs10238623	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety in major depressive disorder	1,080 European ancestry cases, 442 European ancestry controls	NA	7p15.1	CREB5	rs10238623-A	0.28	5E-6	(Dichotomous)	1.545	[NR]	Illumina [471581]	N
804	chr7	28815238	28815239	rs2299116	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	7p15.1	CREB5	rs2299116-A	0.17	8E-6	(AA)	0.25	[0.13-0.37] unit increase	Illumina [up to 905285]	N
804	chr7	28819841	28819842	rs73077895	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	7p15.1	NR	rs73077895-A	0.016	7E-6		5.35	[2.58-11.11]	Illumina [7261187] (imputed)	N
805	chr7	28911806	28911807	rs11769293	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	7p14.3	intergenic	rs11769293-T	0.0291	1E-6		1.0518	[0.62-1.48] unit increase	Affymetrix, Illumina [NR] (imputed)	N
805	chr7	28911806	28911807	rs11769293	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	7p14.3	intergenic	rs11769293-T	0.0289	8E-6	(Ordinal)	0.9011	[0.51-1.3] unit increase	Affymetrix, Illumina [NR] (imputed)	N
806	chr7	29014194	29014195	rs2018683	23478653	Han JY	2013-03-12	Pharmacogenomics J	A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.	Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer	139 individuals	NA	7p14.3	intergenic	rs2018683-T	NR	8E-7	(Recessive model)	7.8	[3.4-17.7]	Affymetrix [334127]	N
806	chr7	29041189	29041190	rs2252521	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	7p14.3	CPVL	rs2252521-?	0.3363	5E-6	(PAL8)			Illumina [475971]	N
807	chr7	29184488	29184489	rs10486607	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Diabetes related insulin traits	Up to 982 individuals	NA	7p14.3	CPVL	rs10486607-?	NR	8E-6	(HbA1C)			Affymetrix [70897]	N
807	chr7	29218158	29218159	rs245914	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	7p14.3	CHN2, CPVL	rs245914-?		2E-7				Affymetrix [545513]	N
807	chr7	29218158	29218159	rs245914	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p14.3	CHN2	rs245914-A	0.149	6E-6	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
807	chr7	29218158	29218159	rs245914	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p14.3	CHN2	rs245914-A	0.149	3E-6	(Fat mass )	0.03	[NR] % increase	Illumina [899892]	N
809	chr7	29456279	29456280	rs79489058	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7p14.3	NR	rs79489058-?	NR	5E-6	(AA)	1.3914	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
813	chr7	29921523	29921524	rs740145	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	7p14.3	WIPF3	rs740145-C	NR	5E-6		0.1732	[0.10-0.25] mm decrease	Illumina [1704858] (imputed)	N
813	chr7	29962523	29962524	rs17158483	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p14.3	SCRN1	rs17158483-A	0.159	9E-6	(Sleep RQ)	0.03	[NR] unit increase	Illumina [899892]	N
814	chr7	30083020	30083021	rs10488084	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Estradiol levels	1,583 European ancestry female individuals	NA	7p14.3	PLEKHA8, FKBP14	rs10488084-C	0.08	2E-6		0.18	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
819	chr7	30714435	30714436	rs2284219	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	7p14.3	CRHR2	rs2284219-T		8E-6		1.05	[1.03-1.08]	Affymetrix, Illumina [2500000] (imputed)	N
819	chr7	30755582	30755583	rs10267836	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	7p14.3	INMT	rs10267836-?		6E-6	(DI)	3.2	[1.44-4.96] unit increase	Illumina [693128]	N
821	chr7	30937177	30937178	rs1000597	22396660	Urabe Y	2012-03-01	PLoS Genet	A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.	Nephrolithiasis	904 Japanese ancestry cases, 7,471 Japanese ancestry controls	4,892 Japanese ancestry cases, 9,873 Japanese ancestry controls	7p14.3	INMT, FAM188B, AQP1	rs1000597-?	NR	2E-14		1.22	[1.16-1.29]	Illumina [556249]	N
822	chr7	31136896	31136897	rs2267739	25147783	Keene KL	2014-08-06	Front Public Health	Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.	Vitamin B levels in ischemic stroke	1,725 European ancestry cases, 258 African ancestry cases, 117 cases	NA	7p14.3	ADCYAP1R1	rs2267739-G	0.153	1E-6	(Vitamin B6)	0.241	[NR] unit decrease	Illumina [737081]	N
822	chr7	31155346	31155347	rs1558477	21621269	Aragam N	2011-05-26	J Affect Disord	Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.	Major depressive disorder	1,726 cases, 1,630 controls	NA	7p14.3	ADCYAP1R1	rs1558477-?		3E-7				Perlegen [433556]	N
823	chr7	31242469	31242470	rs17159991	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	7p14.3	AC006978.1	rs17159991-A	0.05	8E-6		0.329	[0.19-0.47] unit decrease	Affymetrix [2366856] (imputed)	N
824	chr7	31363250	31363251	rs6945749	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	7p14.3	NEUROD6	rs6945749-C	NR	5E-6		4.554	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
826	chr7	31623745	31623746	rs1014137	24578207	Opherk C	2014-02-27	Stroke	Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.	White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy	466 European ancestry individuals	NA	7p14.3	NR	rs1014137-C	NR	8E-6		0.0241	[NR] unit increase	Affymetrix [583499]	N
828	chr7	31904026	31904027	rs2270221	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	7p14.3	PDE1C	rs2270221-A	0.267	1E-6		1.2	[NR]	Illumina [580699]	N
830	chr7	32189539	32189540	rs11975235	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	7p14.3	PDE1C	rs11975235-?	0.4843	3E-6	(anti-B2 GPI)	2.139	[NR]	Affymetrix [906600]	N
831	chr7	32342617	32342618	rs11771526	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7p14.3	LOC100130673	rs11771526-G	0.119	8E-6		0.027	[0.015-0.039] kg/m2 increase	Affymetrix, Illumina [2550021]	N
831	chr7	32347334	32347335	rs215614	20418888	Thorgeirsson TE	2010-04-25	Nat Genet	Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.	Smoking behavior	31,266 European ancestry individuals	54,731 European ancestry individuals	7p14.3	intergenic	rs215614-G	0.36	2E-7		0.22	[0.14-0.30] CPD increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
832	chr7	32376747	32376748	rs10237735	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		7p14.3	LSM5	rs10237735-T	NR	1E-6		0.7138	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
832	chr7	32444434	32444435	rs215738	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	7p14.3	LSM5	rs215738-A	0.0321	8E-6		3.778	[NR] unit decrease	Illumina [1216189] (imputed)	N
832	chr7	32460723	32460724	rs62458065	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	7p14.3	intergenic	rs62458065-T		1E-6		0.3067	unit increase	Illumina [5767231] (imputed)	N
838	chr7	33181237	33181238	rs17169807	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	7p14.3	BBS9	rs17169807-T	0.0787	4E-6		2.5493	[NR] unit decrease	Illumina [1216189] (imputed)	N
838	chr7	33256038	33256039	rs10262453	23160099	Justice CM	2012-11-18	Nat Genet	A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.	Sagittal craniosynostosis	130 European ancestry trios	172 cases, 548 controls	7p14.3	BBS9	rs10262453-A	0.69	6E-20		4.17	[3.13-5.88]	Illumina [915307]	N
840	chr7	33550040	33550041	rs10262995	26083657	Stafford-Smith M	2015-06-17	Kidney Int	Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.	Acute kidney injury in coronary artery bypass surgery (creatinine rise)	873 European ancestry cases	380 European ancestry cases	7p14.3	BBS9	rs10262995-A	0.087	2E-7		12.84	[7.98-17.7] unit increase	Illumina [530716] (imputed)	N
841	chr7	33673264	33673265	rs17170316	21993531	Kuparinen T	2011-10-13	Genes Immun	Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.	Cytomegalovirus antibody response	1,485 European ancestry sero-postitive individuals, 648 European ancestry sero-negative individuals	NA	7p14.3	intergenic	rs17170316-A	0.07	8E-7		0.325	[0.20-0.45] unit decrease	Illumina [546677]	N
845	chr7	34093996	34093997	rs17169634	24770881	Nelson PT	2014-04-27	Acta Neuropathol	ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.	Alzheimer's disease	1443 cases and 99 controls	NA	7p14.3	BMPER	rs17169634-?	NR	1E-7				NR [4913579] (imputed)	N
845	chr7	34114711	34114712	rs76917448	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7p14.3	intergenic	rs76917448-A	0.032	4E-6		3.65	[2.03-6.56]	Illumina [1556551]	N
849	chr7	34697059	34697060	rs2530544	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p14.3	NR	rs2530544-G	0.768357767245216	8E-7	(IGP17)	0.1982	[0.12-0.28] unit increase	Illumina [~ 2500000] (imputed)	N
849	chr7	34697139	34697140	rs2530545	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p14.3	NR	rs2530545-C	0.806018537605697	7E-6	(IGP53)	0.1859	[0.11-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
854	chr7	35293971	35293972	rs336284	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide behavior	577 European ancestry cases, 1,233 European ancestry controls	NA	7p14.2	TBX20	rs336284-A	0.45	8E-6		1.392	[1.204-1.609]	Illumina [794207]	N
854	chr7	35293971	35293972	rs336284	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide	317 European ancestry cases, 1,233 European ancestry controls	NA	7p14.2	TBX20	rs336284-A	0.45	2E-7		1.661	[1.374-2.008]	Illumina [794207]	N
855	chr7	35401446	35401447	rs2392362	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	7p14.2	AC007652.1	rs2392362-T	0.27	2E-6	(inspection time)	0.14	[0.08-0.20] unit increase	Illumina [~ 610000]	N
856	chr7	35554787	35554788	rs343064	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	7p14.2	intergenic	rs343064-A	0.40	3E-8	(Fibrosis)	1.31	[NR] unit increase	Illumina [324623]	N
856	chr7	35586205	35586206	rs6954895	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	7p14.2	intergenic	rs6954895-G	0.257	2E-7	(Temperament)	0.16	[NR] unit increase	Affymetrix [677643]	N
856	chr7	35607232	35607233	rs6973609	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p14.2	HERPUD2	rs6973609-G	0.381	9E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
856	chr7	35610161	35610162	rs1003247	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	7p14.2	HERPUD2	rs1003247-C	0.261	6E-6	(Semantic Fluency)	2.2814	[1.31-3.26] unit increase	Affymetrix [> 371951] (imputed)	N
861	chr7	36191698	36191699	rs4302748	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	7p14.2	EEPD1	rs4302748-?	NR	5E-6				Illumina [874956]	N
861	chr7	36211748	36211749	rs9648428	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p14.2	EEPD1	rs9648428-A	0.092	3E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
863	chr7	36546068	36546069	rs7777593	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p14.2	AOAH	rs7777593-A	0.404	1E-6	(Weight change )	0.04	[NR] kg/y increase	Illumina [899892]	N
864	chr7	36610492	36610493	rs6948404	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	7p14.2	AOAH	rs6948404-?	0.07	3E-6				Illumina [1212217]	N
866	chr7	36917994	36917995	rs741301	17653210	Maeda S	2007-08-01	Kidney Int Suppl	Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population.	Type 2 diabetes nephropathy	94 Japanese ancestry cases, 94 Japanese ancestry controls	NA	7p14.2	ELMO1	rs741301-?	NR	8E-6		2.67	[1.71-4.16]	NR [~ 80000]	N
866	chr7	36952020	36952021	rs10488023	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	7p14.2	ELMO1	rs10488023-G	0.142	8E-6		0.099	[0.056-0.142] cup size increase	Illumina [7422970] (imputed)	N
866	chr7	36961319	36961320	rs13230047	22216198	Athanasiadis G	2011-12-28	PLoS One	A genome-wide association study of the Protein C anticoagulant pathway.	Anticoagulant levels	397 European ancestry individuals from 21 families	NA	7p14.2	ELMO1	rs13230047-?	NR	8E-6	(PC)			Illumina [283437]	N
867	chr7	37067394	37067395	rs10488029	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p14.2	NR	rs10488029-G	0.10578790637539	4E-6	(IGP35)	0.2329	[0.13-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
867	chr7	37076853	37076854	rs10488031	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	7p14.2	ELMO1	rs10488031-A	0.07	2E-6		0.26	[0.16-0.36] unit decrease	Illumina [~ 318327]	N
867	chr7	37085052	37085053	rs17170849	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	7p14.2	ELMO1	rs17170849-C	0.02	4E-6		0.265	unit increase	Illumina [~ 6300000] (imputed)	N
869	chr7	37266351	37266352	rs4723619	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	7p14.1	ELMO1	rs4723619-C	NR	3E-6		3.01	[1.50-6.03]	Affymetrix [476796]	N
870	chr7	37365195	37365196	rs2392492	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		7p14.1	ELMO1	rs2392492-?	0.04	1E-6		0.32	unit decrease	Illumina [NR] (imputed)	N
870	chr7	37374509	37374510	rs6974491	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	7p14.1	intergenic	rs6974491-A	0.17	4E-8		1.25	[1.16-1.36]	Illumina [507467]	N
870	chr7	37374509	37374510	rs6974491	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	7p14.1	ELMO1	rs6974491-A	0.17	2E-7		1.14	[1.09-1.20]	Illumina [292387]	N
870	chr7	37386236	37386237	rs2700987	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	7p14.1	ELMO1	rs2700987-A	NR	7E-8		1.174	[1.14-1.209]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
870	chr7	37389309	37389310	rs2724013	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	7p14.1	ELMO1	rs2724013-?	NR	3E-9	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
870	chr7	37436853	37436854	rs11984075	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	7p14.1	ELMO1	rs11984075-G	NR	5E-8				Illumina [472854]	N
871	chr7	37562367	37562368	rs1425132	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)	150 Japanese ancestry cases, 166 Japanese ancestry controls	NA	7p14.1	LOC442668	rs1425132-T	0.666	5E-6	(Recessive model)	1.43	[1.013-2.017]	Illumina [733202]	N
872	chr7	37746568	37746569	rs2392510	25672891	Shimizu S	2015-02-11	J Dent Res	A Genome-wide Association Study of Periodontitis in a Japanese Population.	Periodontitis	1,593 Japanese ancestry cases, 7,980 Japanese ancestry controls	1,167 Japanese ancestry cases, 7,178 Japanese ancestry controls	7p14.1	GPR141, NME8	rs2392510-T	0.59	4E-6		1.15	[1.09-1.22]	Illumina [597434]	N
873	chr7	37757555	37757556	rs6951258	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p14.1	GPR141	rs6951258-G	0.015	4E-6	(RANTES )	0.03	[NR] pg/mL increase	Illumina [899892]	N
873	chr7	37841533	37841534	rs2718058	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	7p14.1	NME8	rs2718058-A	0.627	5E-9		1.0753	[1.05-1.11]	Illumina [7055881] (imputed)	N
874	chr7	37938421	37938422	rs10226308	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	7p14.1	TXNDC3	rs10226308-A	0.84	6E-13	(LSBMD)	0.06	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
874	chr7	37989094	37989095	rs16879765	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	7p14.1	EPDR1, SFRP4	rs16879765-A	0.19	6E-39		1.98	[1.78-2.18]	Illumina [234939]	N
874	chr7	38004405	38004406	rs1668357	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		7p14.1	intergenic	rs1668357-?	0.82	4E-8			[NR]	Affymetrix, Illumina [152234]	N
875	chr7	38110072	38110073	rs6974574	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	7p14.1	STARD3NL	rs6974574-A	0.313	1E-18		0.03	[0.024-0.036] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
875	chr7	38128325	38128326	rs6959212	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	7p14.1	STARD3NL	rs6959212-T	0.37	3E-6		0.021	[0.0073-0.0347] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
875	chr7	38128325	38128326	rs6959212	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	7p14.1	STARD3NL	rs6959212-T	0.32	4E-38	(LSBMD)	0.07	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
875	chr7	38128325	38128326	rs6959212	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	7p14.1	STARD3NL	rs6959212-T	0.32	2E-9		0.024	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
875	chr7	38136276	38136277	rs1524058	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	7p14.1	STARD3NL	rs1524058-T	0.40	1E-9		0.07	[0.05-0.09] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
876	chr7	38240907	38240908	rs4723738	22310353	Man M	2012-02-07	Pharmacogenomics J	Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.	Treatment response for severe sepsis	1,446 individuals	NA	7p14.1	STARD3NL	rs4723738-?	NR	6E-6	(AG vs. not AG)			Illumina [856627]	N
881	chr7	38835034	38835035	rs11984145	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	7p14.1	VPS41	rs11984145-?	0.0471	6E-6	(PAL8)			Illumina [475971]	N
883	chr7	39093927	39093928	rs7786896	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p14.1	NR	rs7786896-T	NR	8E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
883	chr7	39121499	39121500	rs10464366	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p14.1	NR	rs10464366-T	0.23005360311804	3E-6	(IGP24)	0.1748	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
885	chr7	39418537	39418538	rs60464047	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	7p14.1	POU6F2	rs60464047-T	0.85	7E-9		0.043	[0.028-0.057] unit decrease	Illumina [7428049] (imputed)	N
892	chr7	40361833	40361834	rs3857747	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7p14.1	NR	rs3857747-?	NR	1E-6	(EA)	0.2401	[0.15-0.33] unit increase	Illumina [up to 11892802] (imputed)	N
893	chr7	40466199	40466200	rs4379368	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	7p14.1	c7orf10	rs4379368-T	0.11	6E-8		1.19	[1.12-1.27]	Affymetrix, Illumina [~ 2300000] (imputed)	N
893	chr7	40466199	40466200	rs4379368	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	7p14.1	c7orf10	rs4379368-T	0.11	7E-7		1.2	[1.12-1.29]	Affymetrix, Illumina [~ 2300000] (imputed)	N
893	chr7	40466199	40466200	rs4379368	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	7p14.1	c7orf10	rs4379368-T	0.11	1E-9		1.11	[1.08-1.15]	Affymetrix, Illumina [~ 2300000] (imputed)	N
893	chr7	40481811	40481812	rs2329775	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7p14.1	NR	rs2329775-?	NR	5E-6	(EA)	0.2225	[0.13-0.32] unit decrease	Illumina [up to 11892802] (imputed)	N
896	chr7	40836520	40836521	rs17620991	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	7p14.1	c7orf10	rs17620991-C	0.14	6E-6		1.3333333	[1.22-1.45]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
896	chr7	40866662	40866663	rs17688601	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	7p14.1	SUGCT	rs17688601-C	0.737	1E-8		1.1363636	[1.09-1.19]	Illumina [866891] (imputed)	N
897	chr7	40918069	40918070	rs7801303	24571439	Nudel R	2014-02-26	Genes Brain Behav	Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.	Parent of origin effect on language impairment (paternal)	153 European ancestry case-parent trios, 54 European ancestry case-mother duos, 12 European ancestry case-father duos, 18 European ancestry cases	NA	7p14.1	C7orf10, INHBA	rs7801303-?		4E-7				Illumina [614937]	N
897	chr7	40954480	40954481	rs29880	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	7p14.1	Q4KMW4	rs29880-?	NR	7E-6	(serum ferritin)			Illumina [315887]	N
897	chr7	40965126	40965127	rs7789197	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	7p14.1	INHBA	rs7789197-?	NR	3E-6	(rs1447295)	1.5152	[1.27-1.79]	Affymetrix, Illumina [1117531] (imputed)	N
899	chr7	41275503	41275504	rs12019358	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p14.1	NR	rs12019358-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
901	chr7	41470092	41470093	rs1079866	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	7p14.1	INHBA	rs1079866-G	0.15	9E-24		0.07	[0.056-0.084] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
901	chr7	41470092	41470093	rs1079866	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	7p14.1	INHBA	rs1079866-G	0.15	6E-14		3.9	[2.92-4.88] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
901	chr7	41478607	41478608	rs10486715	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	7p14.1	intergenic	rs10486715-A	0.07	3E-6	(height)	0.44	[NR] inch decrease	Affymetrix [408775]	N
902	chr7	41622529	41622530	rs4724055	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Non-substance related behavioral disinhibition	7,188 European ancestry individuals	NA	7p14.1	NR	rs4724055-C	0.03	8E-6		4.917	[NR] unit increase	Illumina [527829]	N
903	chr7	41730930	41730931	rs2237436	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p14.1	NR	rs2237436-C	NR	5E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
903	chr7	41743293	41743294	rs2877098	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	7p14.1	intergenic	rs2877098-?	0.66	2E-6		1.11	[1.06-1.16]	Affymetrix, Illumina [~ 2300000] (imputed)	N
903	chr7	41811907	41811908	rs10486722	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Pit-and-Fissure caries	996 European ancestry individuals		7p14.1	INHBA-AS1, INHBA	rs10486722-C	0.3349	7E-6		1.215	[NR] unit increase	Illumina [1200000] (imputed)	N
905	chr7	42036836	42036837	rs846271	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p14.1	NR	rs846271-C	0.628956223807401	2E-6	(IGP30)	0.1538	[0.09-0.218] unit decrease	Illumina [~ 2500000] (imputed)	N
906	chr7	42176281	42176282	rs2049622	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	7p14.1	GLI3	rs2049622-?	0.51	9E-6	(EA)	1.15	[1.08-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
907	chr7	42264678	42264679	rs4724100	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	Allergic rhinitis	3,933 European ancestry cases, 8,965 European ancestry controls	NA	7p14.1	GLI3	rs4724100-C	0.45	2E-6		1.14	[1.08-1.21]	Affymetrix, Illumina [2217510] (imputed)	N
907	chr7	42325624	42325625	rs12532960	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	7p14.1	intergenic	rs12532960-?	NR	3E-7	(hsCRP-IL6 pattern prefenofibrate)			Affymetrix [2543887] (imputed)	N
908	chr7	42384619	42384620	rs7791745	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Mean arterial pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	7p14.1	GLI3	rs7791745-T	0.8	7E-7	(drinks/week)	0.196	[0.12-0.27] unit decrease	Affymetrix [2500000] (imputed)	N
914	chr7	43158476	43158477	rs2024125	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p14.1	HECW1	rs2024125-G	0.458	6E-6	(Diet carbohydrate )	0.02	[NR] %energy increase	Illumina [899892]	N
914	chr7	43226640	43226641	rs73099645	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	7p14.1	NR	rs73099645-?	NR	1E-6	(Latino)	0.6507	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
915	chr7	43286838	43286839	rs17172185	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Esophageal adenocarcinoma	1,516 European ancestry cases, 3,209 European ancestry controls	874 European ancestry cases, 6,911 European ancestry controls	7p14.1	NR	rs17172185-T	0.946	5E-6		1.4706	[1.25-1.75]	Illumina [922031]	N
915	chr7	43320593	43320594	rs10231619	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	7p14.1	HECW1	rs10231619-T	0.74	4E-6	(AA)	1.13	[1.07-1.18]	Affymetrix, Illumina [2579389] (imputed)	N
915	chr7	43377275	43377276	rs17172199	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		7p13	HECW1	rs17172199-?	0.08	1E-6		0.28	unit decrease	Illumina [NR] (imputed)	N
920	chr7	43910881	43910882	rs10232743	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p13	MRPS24	rs10232743-A	0.016	7E-6	(VO2max )	0.04	[NR] mL/min increase	Illumina [899892]	N
922	chr7	44223720	44223721	rs730497	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	7p13	GCK	rs730497-?	NR	8E-27		0.121	[0.099-0.143] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
922	chr7	44223720	44223721	rs730497	19096518	Pare G	2008-12-19	PLoS Genet	Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.	Glycated hemoglobin levels	14,618 European ancestry females	455 European ancestry individuals	7p13	GCK	rs730497-A	0.17	6E-12		0.03	[NR] % increase	Illumina [337343]	N
922	chr7	44229067	44229068	rs1799884	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	7p13	GCK	rs1799884-T	0.19	2E-22		0.12	[0.10-0.14] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
922	chr7	44229067	44229068	rs1799884	24244560	Chen P	2013-11-07	PLoS One	A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.	Glycated hemoglobin levels	3,427 Chinese ancestry individuals, 1,735 Malay ancestry individuals, 1,520 Asian Indian ancestry individuals	NA	7p13	GCK	rs1799884-T	0.17	6E-8	(HbA1c)	0.44	[0.42-0.46] unit increase	Illumina [up to 2400000] (imputed)	N
922	chr7	44229067	44229068	rs1799884	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	7p13	GCK	rs1799884-A		5E-18	(FPG)	0.063	[0.049-0.077] mmol-1 increase	Affymetrix [357789]	N
922	chr7	44229067	44229068	rs1799884	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	7p13	GCK	rs1799884-A		3E-9	(1-hPG)	0.208	[0.14-0.28] mmol-1 increase	Affymetrix [357789]	N
922	chr7	44229067	44229068	rs1799884	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	7p13	GCK	rs1799884-A		3E-10	(2-hPG)	0.162	[0.11-0.21] mmol-1 increase	Affymetrix [357789]	N
922	chr7	44229067	44229068	rs1799884	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	7p13	GCK	rs1799884-A	0.19	2E-19	(FPG)	0.0619	[0.049-0.075] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
922	chr7	44229067	44229068	rs1799884	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	7p13	GCK	rs1799884-T	0.18	1E-20		0.04	[0.03-0.05] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
922	chr7	44231215	44231216	rs3757840	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	7p13	GCK	rs3757840-A	0.46	4E-13	(GLU)	0.1	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
922	chr7	44235667	44235668	rs4607517	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	7p13	GCK	rs4607517-?	NR	8E-56				Affymetrix, Illumina [~ 2400000] (imputed)	N
922	chr7	44235667	44235668	rs4607517	22508271	Rasmussen-Torvik LJ	2012-04-16	Genet Epidemiol	Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).	Fasting plasma glucose	2,349 European ancestry individuals, 664 Chinese ancestry individuals, 1,366 African American individuals, 1,171 Hispanic individuals	NA	7p13	GCKR	rs4607517-G	0.19	1E-7	(fasting gluocse)	1.15	[0.72-1.58] mg/dL decrease	Affymetrix [NR] (imputed)	N
922	chr7	44235667	44235668	rs4607517	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	7p13	GCK	rs4607517-A	0.16	7E-92	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
922	chr7	44235667	44235668	rs4607517	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	7p13	GCK	rs4607517-A	0.16	2E-16	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
922	chr7	44235667	44235668	rs4607517	19060907	Prokopenko I	2008-12-01	Nat Genet	Variants in MTNR1B influence fasting glucose levels.	Fasting plasma glucose	35,812 European ancestry individuals	NA	7p13	GCK	rs4607517-A	0.18	1E-25		0.06	[0.05-0.07] mmol/l increase	Affymetrix, Illumina, Perlegen [up to 2557249] (imputed)	N
922	chr7	44259870	44259871	rs1127065	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	7p13	CAMK2B	rs1127065-G	0.49	9E-11	(GLU)	0.08	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
922	chr7	44276650	44276651	rs3757837	23989986	Evangelou E	2013-08-29	Ann Rheum Dis	A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.	Osteoarthritis (hip)	up to 4,734 European ancestry cases, up to 46,903 European ancestry controls	up to 6,928 European ancestry cases, up to 20,570 European ancestry controls	7p13	CAMK2B	rs3757837-C	0.06	8E-10	(Male-specifc)	1.27	[1.15-1.41]	Illumina [2567279] (imputed)	N
925	chr7	44579179	44579180	rs2072183	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	7p13	NPC1L1	rs2072183-C	0.29	7E-16		0.039	[NR] unit increase	NR [NR] (imputed)	N
925	chr7	44579179	44579180	rs2072183	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	7p13	NPC1L1	rs2072183-C	0.29	4E-15		0.036	[NR] unit increase	NR [NR] (imputed)	N
925	chr7	44579179	44579180	rs2072183	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	7p13	NPC1L1	rs2072183-A	0.43	4E-11		1.17	[0.8-1.54] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
925	chr7	44579179	44579180	rs2072183	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	7p13	NPC1L1	rs2072183-C	0.25	3E-11		2.01	[1.44-2.58] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
925	chr7	44580875	44580876	rs41279633	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	7p13	NPC1L1	rs41279633-T	0.18	1E-10		0.054	[0.038-0.07] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
925	chr7	44584550	44584551	rs10260606	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	7p13	NPC1L1	rs10260606-C	0.23	1E-11		0.05	[0.036-0.064] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
925	chr7	44592071	44592072	rs540425	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p13	NR	rs540425-T	NR	3E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
927	chr7	44849434	44849435	rs185203327	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	7p13	NR	rs185203327-?	NR	8E-7	(EA)	0.6381	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
930	chr7	45235119	45235120	rs1294908	25246029	DiStefano JK	2014-09-23	Acta Diabetol	Genome-wide analysis of hepatic lipid content in extreme obesity.	Hepatic lipid content in extreme obesity	1,868 European ancestry cases	NA	7p13	RAMP3	rs1294908-?		7E-7	(Hepatic lipid content grade 1 versus 0)			Illumina [605718]	N
931	chr7	45400894	45400895	rs1852612	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p13	NR	rs1852612-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
933	chr7	45646851	45646852	rs1521470	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7p12.3	NR	rs1521470-A	NR	9E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
935	chr7	45903806	45903807	rs6956740	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	7p12.3	IGFBP1	rs6956740-?	NR	5E-7	(ACPA-negative RA vs controls)	3.49	[2.08-5.85]	Illumina [1723056] (imputed)	N
935	chr7	45982459	45982460	rs2462686	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	7p12.3	IGFBP1, IGFBP3	rs2462686-C	0.3509068	9E-6	(partial response - SSRI treated - 2 weeks)	1.4872	[1.31-1.66]	Affymetrix, Illumina [1200000] (imputed)	N
935	chr7	45994377	45994378	rs2949837	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	7p12.3	NR	rs2949837-A	0.689	3E-7	(EA)	0.056	[0.034-0.078] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
936	chr7	46008109	46008110	rs11977526	21216879	Kaplan RC	2011-01-07	Hum Mol Genet	A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.	Insulin-like growth factors	10,280 European ancestry individuals	NA	7p12.3	IGFBP3	rs11977526-A	0.41	3E-101	(IGFBP-3)			Affymetrix, Illumina [~ 2500000] (imputed)	N
936	chr7	46016661	46016662	rs1722141	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	7p12.3	IGFBP3	rs1722141-A	0.222	3E-8	(EA)	0.067	[0.043-0.091] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
936	chr7	46128108	46128109	rs1722133	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	7p12.3	NR	rs1722133-T	0.587	4E-7	(EA)	0.05	[0.03-0.07] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
937	chr7	46201354	46201355	rs1007358	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	7p12.3	IGFBP3	rs1007358-A	0.773	9E-10		0.021	[0.013-0.029] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
937	chr7	46242582	46242583	rs6964415	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	7p12.3	intergenic	rs6964415-?	0.08	5E-7	(Recessive)	1.42	[1.24-1.63]	Affymetrix [319222]	N
938	chr7	46275727	46275728	rs1486139	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	7p12.3	intergenic	rs1486139-?	NR	2E-6	(ANP6)			Affymetrix [70897]	N
938	chr7	46392566	46392567	rs17513961	22310353	Man M	2012-02-07	Pharmacogenomics J	Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.	Treatment response for severe sepsis	1,446 individuals	NA	7p12.3	LOC222052	rs17513961-?	NR	1E-7	(TT vs. not TT)			Illumina [856627]	N
939	chr7	46402268	46402269	rs7811653	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	7p12.3	IGFBP3	rs7811653-A	0.074	2E-14		1.57	[NR]	Illumina [8207076] (imputed)	N
940	chr7	46620144	46620145	rs7784776	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	7p12.3	IGFBP3	rs7784776-G	0.43	1E-9		0.39	[0.25-0.53] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
941	chr7	46720710	46720711	rs10435178	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7p12.3	LOC222052, LOC730338	rs10435178-A	0.036	4E-6		3.55	[2.01-6.27]	Illumina [1556551]	N
941	chr7	46753490	46753491	rs700750	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p12.3	EPS15P1	rs700750-A	0.487	3E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
941	chr7	46753552	46753553	rs700752	21216879	Kaplan RC	2011-01-07	Hum Mol Genet	A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.	Insulin-like growth factors	10,280 European ancestry individuals	NA	7p12.3	TNS3	rs700752-G	0.65	5E-9	(IGF-I)			Affymetrix, Illumina [~ 2500000] (imputed)	N
941	chr7	46753552	46753553	rs700752	21216879	Kaplan RC	2011-01-07	Hum Mol Genet	A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.	Insulin-like growth factors	10,280 European ancestry individuals	NA	7p12.3	TNS3	rs700752-G	0.65	4E-21	(IGFBP-3)			Affymetrix, Illumina [~ 2500000] (imputed)	N
943	chr7	46944806	46944807	rs2190016	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (non-dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	7p12.3	intergenic	rs2190016-T	0.62	3E-6				Affymetrix, Illumina [~ 2500000] (imputed)	N
944	chr7	47075775	47075776	rs12668095	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	7p12.3	TNS3	rs12668095-C	0.22	5E-7		3.4	[NR]	Affymetrix [4893794] (imputed)	N
945	chr7	47238706	47238707	rs1370916	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	7p12.3	MRPL42P4, TNS3	rs1370916-?	0.46-0.52	2E-6	(Red meat)	1.11	[1.06-1.15]	Affymetrix, Illumina [> 2700000] (imputed)	N
946	chr7	47386789	47386790	rs2470990	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	7p12.3	TNS3	rs2470990-?	NR	6E-6	(Alpha power, occipital)	0.33	[0.19-0.47] unit decrease	Illumina [527829]	N
946	chr7	47437243	47437244	rs56232506	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	7p12.3	TNS3	rs56232506-A	0.45	9E-9		1.06	[1.04-1.08]	Affymetrix, Illumina [up to 16852405] (imputed)	N
946	chr7	47437243	47437244	rs56232506	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	7p12.3	TNS3	rs56232506-A	0.45	2E-9	(EA)	1.07	[1.05-1.09]	Affymetrix, Illumina [up to 16852405] (imputed)	N
949	chr7	47779968	47779969	rs7800244	22841784	Patin E	2012-07-26	Gastroenterology	Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.	Hepatitis C induced liver fibrosis	1,161 European ancestry HCV-infected individuals	1,181 European ancestry HCV-infected individuals	7p12.3	PKD1L1	rs7800244-T	0.18	3E-6	(Binary F0-1/F3-4)			Illumina [780650] (imputed)	N
949	chr7	47829316	47829317	rs1551277	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	7p12.3	PKD1L1	rs1551277-A		7E-6	(EA, factor score analysis)	0.068	[NR] unit increase	Affymetrix [up to 730090]	N
952	chr7	48233390	48233391	rs144495862	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	7p12.3	ABCA13	rs144495862-?		9E-6		0.422	[NR] unit decrease	Illumina [5970354] (imputed)	N
953	chr7	48266194	48266195	rs17712049	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	7p12.3	ABCA13	rs17712049-C	0.875	4E-6	(EA, less than 25 years)	1.569	[1.295-1.902]	Affymetrix, Illumina [NR] (imputed)	N
957	chr7	48817964	48817965	rs11767191	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	7p12.3	intergenic	rs11767191-?	NR	1E-6	(SF7)			Affymetrix [5476100] (imputed)	N
958	chr7	48907717	48907718	rs10232860	25881214	Shah AA	2015-02-27	Heart Surg Forum	Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.	Vein graft stenosis in coronary artery bypass grafting	361 European ancestry cases, 160 European ancestry controls	NA	7p12.3	ABCA13	rs10232860-G	0.17	5E-6				Illumina [905781]	N
961	chr7	49329679	49329680	rs7801534	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	7p12.2	CDC14C	rs7801534-G	0.17	7E-7	(AA-glucose response)	4.96	[3.02-6.9] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
962	chr7	49469002	49469003	rs740083	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	7p12.2	VWC2	rs740083-A	0.24	5E-6	(EA)	0.05	[0.03-0.07] unit decrease	Illumina [up to 905285]	N
963	chr7	49616202	49616203	rs10269783	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7p12.2	VWC2	rs10269783-A	0.435	4E-6	(EA)	0.014	[0.0083-0.0205] kg/m2 increase	Affymetrix, Illumina [2550021]	N
963	chr7	49616202	49616203	rs10269783	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7p12.2	VWC2	rs10269783-A	0.431	2E-6		0.014	[0.0084-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
963	chr7	49633801	49633802	rs4492324	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p12.2	intergenic	rs4492324-G	0.235	8E-6	(RQmax)	0.04	[NR] increase	Illumina [899892]	N
967	chr7	50175653	50175654	rs12718244	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p12.2	NR	rs12718244-A	0.4081	1E-8	(EA)	1.0744148	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
967	chr7	50175653	50175654	rs12718244	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p12.2	NR	rs12718244-A	0.4081	3E-14	(EA)	1.079147	[1.06-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
967	chr7	50175653	50175654	rs12718244	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p12.2	NR	rs12718244-A	0.4081	5E-11	(EA)	1.0833611	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
968	chr7	50225390	50225391	rs7805803	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	7p12.2	ZPBP	rs7805803-?	NR	9E-6		0.004	[NR] unit decrease	Illumina [478011]	N
968	chr7	50253896	50253897	rs17664743	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	7p12.2	intergenic	rs17664743-A	0.2244	5E-6		0.0665	[0.038-0.095] unit increase	Illumina [2400000] (imputed)	N
968	chr7	50269671	50269672	rs1456893	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	7p12.2	intergenic	rs1456893-A	0.68	5E-9		1.2	[NR]	Affymetrix, Illumina [635547] (imputed)	N
968	chr7	50304460	50304461	rs1456896	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p12.2	NR	rs1456896-A	0.69	3E-13	(EA)	1.0815443		Affymetrix, Illumina [~ 9000000] (imputed)	N
968	chr7	50304460	50304461	rs1456896	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	7p12.2	NR	rs1456896-G	0.69	1E-13	(EA)	1.1026409		Affymetrix, Illumina [~ 9000000] (imputed)	N
968	chr7	50304460	50304461	rs1456896	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	7p12.2	ZPBP, IKZF1	rs1456896-T	0.688	7E-15		1.088	[1.055-1.123]	Affymetrix, Illumina [1230000] (imputed)	N
968	chr7	50304460	50304461	rs1456896	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	7p12.2	ZPBP, IKZF1, FIGNL1	rs1456896-T	0.69	1E-8		1.14	[1.09-1.20]	Affymetrix, Illumina [953241] (imputed)	N
968	chr7	50305862	50305863	rs4917014	25672763	Ueta M	2015-02-08	J Allergy Clin Immunol	IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement.	Cold medicine related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS-TEN) with severe mucosal involvement	117 Japanese ancestry cases, 691 Japanese ancestry controls	43 East Asian ancestry cases, 278 East Asian ancestry controls, 20 Indian ancestry cases, 56 Indian ancestry controls, 39 Brazilian ancestry cases, 135 Brazilian ancestry controls	7p12.2	IKZF1	rs4917014-?		8E-11		2.0	[1.43-2.50]	Affymetrix [449205]	N
968	chr7	50305862	50305863	rs4917014	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	7p12.2	IKZF1	rs4917014-G	0.32	1E-8		0.022	[NR] unit increase	NR [NR] (imputed)	N
968	chr7	50305862	50305863	rs4917014	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	7p12.2	IKZF1	rs4917014-A	0.68	3E-23		1.39	[1.30-1.47]	Illumina [493955]	N
968	chr7	50313351	50313352	rs10276619	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	7p12.2	IKZF1	rs10276619-G	0.63	6E-6		1.1765		Illumina [2100739] (imputed)	N
968	chr7	50313351	50313352	rs10276619	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	7p12.2	IKZF1	rs10276619-?	NR	3E-6				Illumina [516645]	N
969	chr7	50335231	50335232	rs4917017	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs4917017-G	0.70576580729862	2E-7	(IGP66)	0.1816	[0.11-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50335231	50335232	rs4917017	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs4917017-G	0.70576580729862	1E-8	(IGP70)	0.1974	[0.13-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50346133	50346134	rs7781977	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs7781977-C	0.695324747663551	5E-7	(IGP45)	0.1658	[0.1-0.23] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50350266	50350267	rs6583437	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs6583437-G	0.637881567834681	5E-9	(IGP60)	0.1862	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
969	chr7	50350266	50350267	rs6583437	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs6583437-G	0.637609347358997	1E-8	(IGP6)	0.1817	[0.12-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50350266	50350267	rs6583437	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs6583437-G	0.637533007630161	4E-8	(IGP46)	0.1744	[0.11-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50350266	50350267	rs6583437	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs6583437-G	0.636915159517426	3E-8	(IGP58)	0.1772	[0.11-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
969	chr7	50350266	50350267	rs6583437	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs6583437-G	0.636802753258427	7E-10	(IGP42)	0.197	[0.13-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50350266	50350267	rs6583437	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs6583437-G	0.63670095951417	2E-9	(IGP2)	0.1929	[0.13-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50350266	50350267	rs6583437	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs6583437-G	0.636650594183445	1E-9	(IGP59)	0.1949	[0.13-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
969	chr7	50350266	50350267	rs6583437	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	NR	rs6583437-G	0.636609333927775	7E-6	(IGP61)	0.143	[0.081-0.205] unit decrease	Illumina [~ 2500000] (imputed)	N
969	chr7	50355206	50355207	rs6421315	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	IKZF1	rs6421315-C	0.368343116206589	8E-12	(IGP62)	0.2202	[0.16-0.28] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50355206	50355207	rs6421315	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	IKZF1	rs6421315-C	0.368316756347439	2E-13	(IGP63)	0.2363	[0.17-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50355206	50355207	rs6421315	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	IKZF1	rs6421315-C	0.368179075211393	7E-11	(IGP67)	0.2096	[0.15-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
969	chr7	50355206	50355207	rs6421315	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	IKZF1	rs6421315-C	0.368179075211393	2E-7	(IGP64)	0.1714	[0.11-0.23] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50355206	50355207	rs6421315	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	IKZF1	rs6421315-C	0.368179075211393	1E-8	(IGP71)	0.1829	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
969	chr7	50355206	50355207	rs6421315	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	IKZF1	rs6421315-C	0.368136455031166	7E-6	(IGP5)	0.1445	[0.081-0.208] unit decrease	Illumina [~ 2500000] (imputed)	N
969	chr7	50355206	50355207	rs6421315	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	IKZF1	rs6421315-C	0.368121119768477	5E-7	(IGP65)	0.1615	[0.099-0.224] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50355206	50355207	rs6421315	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.2	IKZF1	rs6421315-C	0.368120581032947	8E-9	(IGP72)	0.1863	[0.12-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
969	chr7	50364625	50364626	rs10230193	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	7p12.2	IKZF1	rs10230193-?		7E-6	(AIRg)	1.79	[0.75-2.83] unit decrease	Illumina [693128]	N
969	chr7	50428427	50428428	rs12718597	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	7p12.2	IKZF1	rs12718597-A	NR	5E-13		0.0	[0.002-0.004] fl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
969	chr7	50428444	50428445	rs12718598	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	7p12.2	IKZF1	rs12718598-T	0.51	2E-13	(EA, MCV)	0.204	[0.15-0.26] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
970	chr7	50466303	50466304	rs11978267	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	7p12.2	IKZF1	rs11978267-G	0.27	9E-11	(ETV6-RUNX1 positive)	1.43	[1.28 - 1.59]	Affymetrix [355750]	N
970	chr7	50466303	50466304	rs11978267	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	7p12.2	DDC, IKZF1	rs11978267-G	0.27	8E-11		1.69	[1.40-1.90]	Affymetrix [307944]	N
970	chr7	50469980	50469981	rs11980379	23996088	Migliorini G	2013-08-30	Blood	Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.	Acute lymphoblastic leukemia (B-cell precursor)	1,658 European ancestry child cases, 4,723 European ancestry controls	1,449 European ancestry child cases, 1,488 European ancestry controls	7p12.2	IKZF1	rs11980379-?	NR	3E-33				Illumina [382776] (imputed)	N
970	chr7	50470603	50470604	rs4132601	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	7p12.2	IKZF1	rs4132601-G	0.27	8E-13		1.43	[1.30 - 1.58]	Affymetrix [355750]	N
970	chr7	50470603	50470604	rs4132601	19684604	Papaemmanuil E	2009-08-16	Nat Genet	Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	907 European ancestry cases, 2,398 European ancestry controls	NA	7p12.2	IKZF1	rs4132601-C	0.28	1E-19		1.69	[1.58-1.81]	Illumina [291473]	N
970	chr7	50473250	50473251	rs6964969	23512250	Xu H	2013-03-19	J Natl Cancer Inst	Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.	Acute lymphoblastic leukemia (childhood)	972 European ancestry cases, 1,386 European ancestry controls, 89 African American cases, 1,363 African American controls, 305 Hispanic cases, 1,008 Hispanic controls	574 European ancestry cases, 2,601 European ancestry controls, 128 African American cases, 1,075 African American controls, 143 Hispanic cases, 640 Hispanic controls	7p12.2	DDC, GRB10, IKZF1	rs6964969-C	0.28	2E-29		1.67	[1.53-1.83]	Affymetrix [709059]	N
970	chr7	50478626	50478627	rs1110701	25310577	Evans TJ	2014-10-13	PLoS One	Confirmation of Childhood Acute Lymphoblastic Leukemia Variants, ARID5B and IKZF1, and Interaction with Parental Environmental Exposures.	Acute lymphoblastic leukemia (childhood)	358 European ancestry cases, 1,192 European ancestry controls	441 European ancestry cases, 1,542 European ancestry controls	7p12.2	IKZF1	rs1110701-G	0.28	7E-9		1.69	[1.42-2.02]	Illumina [7162141] (imputed)	N
970	chr7	50565826	50565827	rs2167364	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	7p12.2	DDC	rs2167364-G	0.31	2E-8		1.32	[1.20 - 1.45]	Affymetrix [355750]	N
970	chr7	50565826	50565827	rs2167364	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	7p12.2	DDC	rs2167364-G	0.31	2E-7	(ETV6-RUNX1 positive)	1.32	[1.19 - 1.46]	Affymetrix [355750]	N
971	chr7	50610378	50610379	rs7809234	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	7p12.1	DDC	rs7809234-A	0.88	6E-14	(indoleacetate/N2,N2-dimethylguanosine)	0.049	[0.035-0.063] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
971	chr7	50614172	50614173	rs10499694	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7p12.1	DDC	rs10499694-A	0.503	5E-7		0.015	[0.009-0.0204] kg/m2 increase	Affymetrix, Illumina [2550021]	N
971	chr7	50614172	50614173	rs10499694	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7p12.1	DDC	rs10499694-A	0.497	1E-6	(EA)	0.015	[0.0088-0.021] kg/m2 increase	Affymetrix, Illumina [2550021]	N
971	chr7	50622711	50622712	rs1451375	19465909	Jallow M	2009-05-24	Nat Genet	Genome-wide and fine-resolution association analysis of malaria in West Africa.	Malaria	958 Gambian ancestry cases, 1,382 Gambian ancestry controls	1,087 Gambian ancestry cases, 2,376 Gambian ancestry controls	7p12.1	DDC	rs1451375-?	0.78	6E-6		1.33	[1.18-1.52]	Affymetrix [402814]	N
971	chr7	50664921	50664922	rs12540874	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	7p12.1	GRB10	rs12540874-?	0.40	1E-6	(IcSSc)	1.15	[1.09-1.22]	Illumina [NR] (imputed)	N
971	chr7	50666032	50666033	rs7777754	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	7p12.1	GRB10	rs7777754-?	NR	6E-6	(Recessive model)	0.76	unit decrease	Illumina [542562]	N
972	chr7	50726143	50726144	rs2237457	25223841	Li J	2014-09-13	Schizophr Res	A genetic locus in 7p12.2 associated with treatment resistant schizophrenia.	Schizophrenia (treatment resistant)	79 European ancestry treatment resistant cases, 95 European ancestry non-treatment resistant cases	70 European ancestry treatment resistant cases, 125 European ancestry non-treatment resistant cases	7p12.1	DDC, GRB10, LOC100128600	rs2237457-T	0.36	6E-7	(Recessive model)	1.74	[NR]	Illumina [552419]	N
972	chr7	50751089	50751090	rs10248619	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	7p12.1	GRB10	rs10248619-?		8E-8				Affymetrix, Illumina [~ 2400000] (imputed)	N
972	chr7	50754678	50754679	rs2282930	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	7p12.1	GRB10	rs2282930-A	0.24	3E-6	(FNBMD)	0.03	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
972	chr7	50797684	50797685	rs10275663	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	7p12.1	GRB10	rs10275663-?	NR	8E-7	(DBP,CPD)			Affymetrix [2485435] (imputed)	N
974	chr7	51027193	51027194	rs4948088	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	7p12.1	COBL	rs4948088-?	0.95	4E-8		1.3	[1.11-1.49]	Affymetrix, Illumina [841622] (imputed)	N
978	chr7	51537886	51537887	rs1949829	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	7p12.1	COBL	rs1949829-T	0.055	4E-7		1.78	[1.42-2.24]	Illumina [287802]	N
978	chr7	51615151	51615152	rs35205176	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p12.1	NR	rs35205176-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
979	chr7	51698192	51698193	rs10279826	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	7p12.1	COBL, POM121L12	rs10279826-C	0.94	8E-6	(men)	0.284	[0.16-0.41] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
979	chr7	51704390	51704391	rs35493220	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7p12.1	NR	rs35493220-?	NR	6E-7	(AA)	1.1798	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
980	chr7	51865607	51865608	rs4947642	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	7p12.1	intergenic	rs4947642-?	NR	1E-6	(SBP,Smoking)			Affymetrix [2485435] (imputed)	N
981	chr7	52006414	52006415	rs406001	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	7p12.1	COBL	rs406001-?	NR	3E-8	(Trauma exposed controls; EA)			Illumina [up to 871502]	N
981	chr7	52006414	52006415	rs406001	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	7p12.1	COBL	rs406001-?	NR	2E-8	(Whole cohort; EA)			Illumina [up to 871502]	N
985	chr7	52472449	52472450	rs1012036	20709820	Kong X	2010-08-13	Am J Respir Crit Care Med	Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.	Emphysema-related traits	2,383 European ancestry cases	NA	7p12.1	AC006320.2	rs1012036-C	0.77	5E-6	(qualitative)	1.47	[NR]	Illumina [499578]	N
990	chr7	53127558	53127559	rs1174864	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7p12.1	NR	rs1174864-G	0.49190341581063	5E-6	(IGP23)	0.1417	[0.081-0.203] unit increase	Illumina [~ 2500000] (imputed)	N
996	chr7	53982625	53982626	rs17736906	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	7p11.2	FLJ45974	rs17736906-A	0.1558	2E-6		0.7446	[NR] unit decrease	Illumina [1216074] (imputed)	N
998	chr7	54181931	54181932	rs6593122	21396408	Miller EK	2011-03-25	Vaccine	Atopy history and the genomics of wheezing after influenza vaccination in children 6-59 months of age.	Vaccine-related adverse events	6 European ancestry cases,55 European ancestry controls	NA	7p11.2	intergenic	rs6593122-?	0.11	4E-6	(influenza)			Illumina [468458]	N
1002	chr7	54674872	54674873	rs679830	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7p11.2	RPL31P35	rs679830-A	0.116	6E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1002	chr7	54783372	54783373	rs6946131	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	7p11.2	SEC61G	rs6946131-T	0.53	2E-6		1.387	[1.3-1.47]	Illumina [NR]	N
1003	chr7	54796451	54796452	rs579090	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	7p11.2	SEC61G	rs579090-A	NR	8E-6		4.46	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1004	chr7	54978923	54978924	rs2252586	21531791	Sanson M	2011-04-29	Hum Mol Genet	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	Glioma	4,147 European ancestry cases, 7,435 European ancestry controls	NA	7p11.2	EGFR	rs2252586-T	0.296	8E-8		1.18	[1.11-1.25]	Illumina [424460]	N
1005	chr7	55159348	55159349	rs11979158	21531791	Sanson M	2011-04-29	Hum Mol Genet	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	Glioma	4,147 European ancestry cases, 7,435 European ancestry controls	NA	7p11.2	EGFR	rs11979158-A	0.83	7E-8		1.23	[1.15-1.35]	Illumina [424460]	N
1010	chr7	55724444	55724445	rs9656709	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	7p11.2	NR	rs9656709-C	0.488	5E-6	(Alcohol consumption)			Illumina [527829]	N
1011	chr7	55922322	55922323	rs7786410	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	7p11.2	sep/14	rs7786410-?		8E-6	(PC1)	0.1548	[NR] unit decrease	Illumina [4167292] (imputed)	N
1012	chr7	56079093	56079094	rs4947534	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Amino acid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	7p11.2	PSPH	rs4947534-T	0.2426	4E-18	(Serine)	0.0406	[0.031-0.05] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1012	chr7	56079093	56079094	rs4947534	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7p11.2	PSPH	rs4947534-T	0.25	2E-14	(serine)	0.018	[0.014-0.022] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1012	chr7	56097264	56097265	rs4948102	24651765	Williams SR	2014-03-20	PLoS Genet	Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.	Plasma homocysteine levels (post-methionine load test)	2,710 European and other ancestry individuals, 1,725 European ancestry individuals, 258 African ancestry individuals, 117 individuals	NA	7p11.2	PSPH	rs4948102-?		1E-16				Affymetrix, Illumina [up to 11000000] (imputed)	N
1013	chr7	56139504	56139505	rs7806994	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7p11.2	NR	rs7806994-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
1024	chr7	57583855	57583856	rs11766519	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Pulse pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	7p11.2	ZNF716	rs11766519-C	0.13	1E-7	(Days drinks/week)	0.102	[0.067-0.137] unit decrease	Affymetrix [2500000] (imputed)	N
1025	chr7	57699150	57699151	rs4870684	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	7p11.2	NR	rs4870684-?	NR	5E-6		1.2718	[NR]	Affymetrix [722112]	N
1062	chr7	62577769	62577770	rs6956675	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q11.21	LOC442318	rs6956675-A	0.135	6E-6	(CRP )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1068	chr7	63346885	63346886	rs13437751	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	7q11.21	GABPAP	rs13437751-T	0.09	9E-6	(UAZ Cert)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1071	chr7	63733330	63733331	rs10266483	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	7q11.21	ZNF679, LOC728927, LOC442320	rs10266483-A	0.35	8E-6	(LDL, sum)			Illumina [~ 2500000] (imputed)	N
1082	chr7	65271196	65271197	rs17711722	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	7q11.21	VKORC1L1	rs17711722-T	0.47	8E-9		0.015	[0.0091-0.0209] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1083	chr7	65326820	65326821	rs11763147	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	7q11.21	VKORC1L1	rs11763147-A	0.45	4E-9		0.07	[0.05-0.09] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
1085	chr7	65617594	65617595	rs875971	21223598	Wineinger NE	2011-01-11	BMC Med Genomics	Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.	Aortic root size	1,086 African American individuals	NA	7q11.21	CRCP	rs875971-?	0.32	4E-6		0.1069	[0.063-0.151] cm increase	Affymetrix [NR]	N
1088	chr7	66030611	66030612	rs801193	21223598	Wineinger NE	2011-01-11	BMC Med Genomics	Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.	Aortic root size	1,086 African American individuals	NA	7q11.21	LOC401365, LOC493754	rs801193-?	0.34	4E-6		0.1113	[0.068-0.155] cm increase	Affymetrix [NR]	N
1088	chr7	66045511	66045512	rs6952407	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	7q11.21	LOC493754, KCTD7	rs6952407-A	NR	5E-9		0.033	[NR] unit increase	Illumina [11892802] (imputed)	N
1089	chr7	66096027	66096028	rs10263935	21223598	Wineinger NE	2011-01-11	BMC Med Genomics	Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.	Aortic root size	1,086 African American individuals	NA	7q11.21	RABGEF1, KCTD7	rs10263935-?	0.32	4E-7		0.1142	[0.070-0.159] cm increase	Affymetrix [NR]	N
1091	chr7	66323499	66323500	rs2016325	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	7q11.21	intergenic	rs2016325-?	NR	8E-6		0.56	unit increase	NR [at least 1978803] (imputed)	N
1091	chr7	66421445	66421446	rs4718428	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	7q11.21	C7orf42	rs4718428-T	0.65	3E-10		0.05	[0.03-0.07] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
1096	chr7	67059266	67059267	rs10263639	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Breast cancer	58 cases, 665 controls	NA	7q11.22	intergenic	rs10263639-?	NR	3E-6				Affymetrix [70897]	N
1097	chr7	67188787	67188788	rs7807441	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	7q11.22	FLJ13195	rs7807441-T	0.55	3E-6	(AA)	4.02	[2.31-5.73] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1099	chr7	67426322	67426323	rs6961611	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	7q11.22	RP11-358M3.1	rs6961611-T	0.02	7E-6	(4-choice RT)	0.63	[0.36-0.90] unit decrease	Illumina [~ 610000]	N
1100	chr7	67591038	67591039	rs77689838	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q11.22	NR	rs77689838-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
1103	chr7	68026082	68026083	rs13236930	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q11.22	NR	rs13236930-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
1104	chr7	68050412	68050413	rs1403155	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	7q11.22	AUTS2	rs1403155-A		2E-8	(EA)			Illumina [NR]	N
1106	chr7	68326659	68326660	rs10237067	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	7q11.22	intergenic	rs10237067-A	0.63	3E-6		0.072	unit increase	Illumina [~ 6300000] (imputed)	N
1108	chr7	68611959	68611960	rs6945541	22693459	Li R	2012-05-31	PLoS Genet	Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.	Male-pattern baldness	3,891 European ancestry cases, 8,915 European ancestry controls	NA	7q11.22	AUTS2	rs6945541-C	0.539	2E-9		1.27	[1.18-1.38]	Affymetrix, Illumina [2391230] (imputed)	N
1108	chr7	68624341	68624342	rs1195218	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	7q11.22	AUTS2	rs1195218-G	0.916	5E-22		0.095	[0.076-0.114] unit increase	Illumina [7428049] (imputed)	N
1110	chr7	68905737	68905738	rs6959964	26256467	Wojczynski MK	2015-07-03	Metabolism	Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).	Postprandial triglyceride response to high fat diet meal	872 European ancestry individuals	843 Old Order Amish individuals	7q11.22	intergenic	rs6959964-C	0.369	3E-7	(AUC, adjusted for baseline TG level)	0.2574	[0.16-0.36] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1113	chr7	69238157	69238158	rs11765886	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q11.22	NR	rs11765886-C	0.665165836680053	4E-6	(IGP39)	0.1625	[0.094-0.231] unit increase	Illumina [~ 2500000] (imputed)	N
1113	chr7	69238157	69238158	rs11765886	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q11.22	NR	rs11765886-C	0.66506290565198	5E-6	(IGP40)	0.1591	[0.091-0.228] unit increase	Illumina [~ 2500000] (imputed)	N
1114	chr7	69409377	69409378	rs7785360	26348319	Myung W	2015-09-08	Transl Psychiatry	A genome-wide association study of antidepressant response in Koreans.	Response to serotonin reuptake inhibitors in non-psychotic unipolar depression	263 Korean ancestry responder cases, 218 Korean ancestry non-responder cases	118 Korean ancestry responder cases, 112 Korean ancestry non-responder cases	7q11.22	AUTS2	rs7785360-?	NR	2E-8				Affymetrix [505435] (imputed)	N
1117	chr7	69806022	69806023	rs6943555	21471458	Schumann G	2011-04-06	Proc Natl Acad Sci U S A	Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.	Alcohol consumption	26,316 European ancestry individuals	21,185 European ancestry individuals	7q11.22	AUTS2	rs6943555-A	0.24	4E-8	(quantile transformation)	0.013	[-0.003-0.028] unit decrease	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
1118	chr7	69887084	69887085	rs11766624	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q11.22	AUTS2	rs11766624-G	0.153	4E-7	(Arm span )	0.04	[NR] cm increase	Illumina [899892]	N
1119	chr7	70045940	70045941	rs10237317	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	7q11.22	AUTS2	rs10237317-?	NR	5E-6	(SM vs. Control)	1.775	[NR]	Affymetrix [703012]	N
1119	chr7	70067678	70067679	rs38313	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q11.22	AUTS2	rs38313-G	0.505	6E-6	(EA, women)	0.021	[0.012-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1120	chr7	70211026	70211027	rs6946969	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	7q11.22	AUTS2	rs6946969-G	0.658	2E-9		0.033	[0.022-0.043] unit increase	Illumina [7428049] (imputed)	N
1122	chr7	70404836	70404837	rs58880514	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	7q11.22	intergenic	rs58880514-A	NR	2E-6		1.2987013	[NR]	Illumina [up to 9792010] (imputed)	N
1122	chr7	70473004	70473005	rs1525293	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	7q11.22	WBSCR17	rs1525293-C	0.66	2E-6	(remission - SSRI treated - 12 weeks)	1.7041	[1.48-1.92]	Affymetrix, Illumina [1200000] (imputed)	N
1123	chr7	70587144	70587145	rs62459614	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	7q11.22	WBSCR17	rs62459614-?		2E-6	(PC3)	0.1895	[NR] unit increase	Illumina [4167292] (imputed)	N
1124	chr7	70738728	70738729	rs7794356	26083242	Dahlin A	2015-06-17	PLoS One	Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma.	Response to montelukast in asthma (change in FEV1)	88 European ancestry cases, 10 African ancestry cases, 35 Asian ancestry cases	101 European ancestry cases, 33 African ancestry cases, 50 Asian ancestry cases	7q11.22	WBSCR17	rs7794356-A	NR	9E-7		110.0	[NR] mL increase (CLIC cohort)	Illumina [532264]	N
1126	chr7	71016158	71016159	rs4719147	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	7q11.22	WBSCR17	rs4719147-T	NR	2E-6	(AA)	1.13	[0.64-1.62] unit increase	Affymetrix [~ 2300000] (imputed)	N
1129	chr7	71388849	71388850	rs11766496	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	7q11.22	CALN1	rs11766496-C	0.12	2E-6	(All)	1.3		Affymetrix, Illumina [up to 2500000] (imputed)	N
1131	chr7	71654355	71654356	rs12699125	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	7q11.22	CALN1	rs12699125-A	0.66	3E-6		0.072	unit increase	Illumina [~ 6300000] (imputed)	N
1131	chr7	71680702	71680703	rs4719220	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	7q11.22	CALN1	rs4719220-?		4E-6				Illumina [859311]	N
1132	chr7	71751315	71751316	rs12699131	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	7q11.22	NR	rs12699131-?	NR	2E-6		1.08	[1.04-1.11]	Affymetrix, Illumina [1252901] (imputed)	N
1133	chr7	71839407	71839408	rs1914395	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q11.22	NR	rs1914395-A	NR	4E-7		1.11	[NR]	Illumina [7158791] (imputed)	N
1135	chr7	72129666	72129667	rs13238203	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	7q11.22	TYW1B	rs13238203-T	0.04	3E-6		0.059	[NR] mg/dL decrease	NR [NR] (imputed)	N
1135	chr7	72129666	72129667	rs13238203	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	7q11.22	TYW1B	rs13238203-T	0.04	1E-9		7.91	[5.28-10.54] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1136	chr7	72311816	72311817	rs2058059	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA		POM121	rs2058059-C	0.24	7E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1137	chr7	72426121	72426122	rs404321	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	7q11.23	NSUN5C	rs404321-A	0.005	2E-6		9.86	[5.78-13.94] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1140	chr7	72746647	72746648	rs6943090	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	7q11.23	FKBP6, TRIM50	rs6943090-A		3E-7	(AA)			Illumina [NR]	N
1140	chr7	72856268	72856269	rs2240466	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	7q11.23	NR	rs2240466-A	0.12	1E-6		0.1109	[0.07-0.15] mg/day increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1140	chr7	72856268	72856269	rs2240466	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Triglycerides	17,100 European ancestry individuals, 715 Orcadian individuals	NA	7q11.23	MLXIPL	rs2240466-G	0.87	1E-12		0.14	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
1140	chr7	72856429	72856430	rs1178979	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	7q11.23	TBL2, MLXIPL, BAZ1B, BCL7B	rs1178979-A	0.80	2E-12		0.05	[0.03-0.07] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1140	chr7	72857048	72857049	rs1178977	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	7q11.23	MLXIPL, BAZ1B	rs1178977-A	0.81	1E-12		0.047	[0.034-0.06] unit increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1140	chr7	72864868	72864869	rs714052	20657596	Johansen CT	2010-07-25	Nat Genet	Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.	Hypertriglyceridemia	463 European ancestry cases, 1,197 European ancestry controls	NA	7q11.23	MLXIPL	rs714052-?	0.87	3E-6		2.27	[1.61-3.23]	Affymetrix [~ 2100000] (imputed)	N
1140	chr7	72864868	72864869	rs714052	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Triglycerides	8,993 Japanese ancestry individuals	NA	7q11.23	MIXIPL	rs714052-G	0.11	3E-7		0.123	[0.076-0.170] unit decrease	Illumina [561583]	N
1140	chr7	72864868	72864869	rs714052	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	7q11.23	MLXIPL	rs714052-G	0.12	3E-15		0.16	[0.10-0.22] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1141	chr7	72904809	72904810	rs17145713	20802025	Tang W	2010-08-27	Blood	Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.	Protein C levels	8,048 European ancestry individuals	1,376 European ancestry individuals	7q11.23	BAZ1B	rs17145713-T	0.20	3E-8		0.06	[0.04-0.08] ug/ml decrease	Affymetrix [2461269]	N
1141	chr7	72971230	72971231	rs13233571	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	7q11.23	BCL7B	rs13233571-C	NR	4E-9		0.054	[0.03-0.07] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1141	chr7	72977897	72977898	rs12539316	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Gamma glutamyl transpeptidase	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	7q11.23	TBL2	rs12539316-C	0.10	6E-10		0.0051	[0.0035-0.0067] IU/L increase	Affymetrix [~ 2200000] (imputed)	N
1141	chr7	72982873	72982874	rs17145738	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	7q11.23	MLXIPL	rs17145738-T	0.13	9E-99		0.115	[NR] mg/dL decrease	NR [NR] (imputed)	N
1141	chr7	72982873	72982874	rs17145738	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	7q11.23	MLXIPL	rs17145738-T	0.13	5E-13		0.041	[NR] unit increase	NR [NR] (imputed)	N
1141	chr7	72982873	72982874	rs17145738	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	7q11.23	MLXIPL	rs17145738-G	0.19	9E-59		7.91	[6.93-8.89] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1141	chr7	72982873	72982874	rs17145738	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	7q11.23	MLXIPL	rs17145738-T	0.12	1E-9		0.57	[0.33-0.81] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1141	chr7	72982873	72982874	rs17145738	18193044	Kathiresan S	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	Triglycerides	2,758 individuals	18,544 individuals	7q11.23	TBL2, MLXIPL, BCL7B	rs17145738-T	0.13	7E-22		0.14	[0.25-0.53] percentage SD decrease	Affymetrix [389878]	N
1141	chr7	72982873	72982874	rs17145738	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	Triglycerides	8,684 European ancestry individuals	9,741 European ancestry individuals	7q11.23	MLXIPL	rs17145738-C	0.84	2E-12		8.21	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1141	chr7	72987353	72987354	rs2286276	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	Hypertriglyceridemia	1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls	7q11.23	TBL2, VPS37D, MLXIPL, BAZ1B, BCL7B	rs2286276-?	0.88	2E-6		1.39	[1.25-1.53]	Illumina [1361436] (imputed)	N
1141	chr7	72987353	72987354	rs2286276	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Triglycerides	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	7q11.23	TBL2, MLXIPL	rs2286276-T	0.10	1E-15		0.0652	[0.049-0.081] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1141	chr7	72994475	72994476	rs12666883	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q11.23	TBL2	rs12666883-A	0.033	6E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1141	chr7	72999104	72999105	rs9638182	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	7q11.23	MLXIPL	rs9638182-T	0.81	1E-40		0.1	[0.084-0.116] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1142	chr7	73010441	73010442	rs13247874	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	7q11.23	MLXIPL	rs13247874-?	NR	8E-14	(VLDL-D)	0.16	[0.12-0.2] unit decrease	Illumina [~ 7700000] (imputed)	N
1142	chr7	73017004	73017005	rs13226650	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	7q11.23	MLXIPL	rs13226650-A	0.83	2E-11	(TG)	0.12	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
1142	chr7	73020336	73020337	rs3812316	18193046	Kooner JS	2008-01-13	Nat Genet	Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.	Triglycerides	1,005 European ancestry male individuals, 1,006 Indian Asian ancestry male individuals	6,827 European ancestry individuals, 2,528 Mexican ancestry individuals, 1,181 Indian Asian ancestry female individuals	7q11.23	MLXIPL	rs3812316-C	0.95	1E-10		10.5	[5.3-17.7] % increase	Perlegen [up to 216774]	N
1142	chr7	73026377	73026378	rs17145750	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	7q11.23	MLXIPL	rs17145750-C	0.86	3E-9		4.5	[2.90-6.30] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1142	chr7	73035856	73035857	rs7800944	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption (cups per day)	91,462 European ancestry individuals	30,062 European ancestry individuals, 7,964 African American individuals	7q11.23	MLXIPL, TBL2, VPS37D	rs7800944-T	0.72	3E-11		0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [2373958] (imputed)	N
1150	chr7	74101908	74101909	rs6964833	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	7q11.23	GTF2I	rs6964833-T	0.75	5E-12		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1150	chr7	74126033	74126034	rs117026326	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	7q11.23	GTF2IRD1, GTF2I	rs117026326-T	0.1501	1E-53		2.2	[1.99-2.42]	Affymetrix [556134]	N
1157	chr7	75059330	75059331	rs236670	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q11.23	POM121C, PMS2L3	rs236670-C	0.0050	3E-6	(Diet protein )	0.03	[NR] %energy increase	Illumina [899892]	N
1158	chr7	75163168	75163169	rs1167827	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q11.23	HIP1	rs1167827-G	0.557	2E-10		0.02	[0.014-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1158	chr7	75163168	75163169	rs1167827	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q11.23	HIP1	rs1167827-G	0.553	6E-10	(EA)	0.02	[0.014-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1158	chr7	75163168	75163169	rs1167827	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q11.23	HIP1	rs1167827-G	0.548	9E-8	(EA, men)	0.023	[0.015-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1158	chr7	75173179	75173180	rs1167796	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	7q11.23	NR	rs1167796-G	0.71	2E-8		1.2	[1.12-1.28]	Illumina [493955]	N
1158	chr7	75211413	75211414	rs237238	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (12-month weekly alcohol consumption)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	7q11.23	HIP1	rs237238-A	0.07	7E-6		0.156	[NR] unit increase	Illumina [~ 300000]	N
1159	chr7	75255214	75255215	rs1179624	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	7q11.23	HIP1	rs1179624-T	NR	5E-6	(Fixed effect)	0.06	[0.04-0.08] unit increase	Illumina [4736131] (imputed)	N
1161	chr7	75616104	75616105	rs17685	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption (cups per day)	91,462 European ancestry individuals	30,062 European ancestry individuals, 7,964 African American individuals	7q11.23	POR, SNORA14A, TMEM120A	rs17685-A	0.29	4E-11		0.07	[0.050-0.090] unit increase	Affymetrix, Illumina [2373958] (imputed)	N
1161	chr7	75616104	75616105	rs17685	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption	17,479 European ancestry high consumption individuals, 31,049 European ancestry no or low consumption individuals	6,497 European ancestry high consumption individuals, 432 African American high consumption individuals, 6,972 European ancestry no or low consumption individuals, 3,413 African American no or low consumption individuals	7q11.23	POR, SNORA14A, TMEM120A	rs17685-A	0.29	1E-9		0.08	[0.060-0.100] unit increase	Affymetrix, Illumina [2376205] (imputed)	N
1164	chr7	75937048	75937049	rs2908197	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7q11.23	NR	rs2908197-?	NR	2E-6		0.1227	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1164	chr7	75951229	75951230	rs7789940	21654844	Briggs FB	2011-06-09	Genes Immun	Genome-wide association study of severity in multiple sclerosis.	Multiple sclerosis	1,470 European ancestry cases	NA	7q11.23	LOC100289506	rs7789940-G	0.19	6E-6	(Extreme)	1.87	[NR]	Affymetrix [2110417] (imputed)	N
1164	chr7	75953296	75953297	rs758944	21654844	Briggs FB	2011-06-09	Genes Immun	Genome-wide association study of severity in multiple sclerosis.	Multiple sclerosis	1,470 European ancestry cases	NA	7q11.23	LOC100289506	rs758944-T	0.2	8E-6	(Continuous)	0.48	[NR] unit increase	Affymetrix [2110417] (imputed)	N
1164	chr7	75975585	75975586	rs7779014	21654844	Briggs FB	2011-06-09	Genes Immun	Genome-wide association study of severity in multiple sclerosis.	Multiple sclerosis	1,470 European ancestry cases	NA	7q11.23	YWHAG	rs7779014-T	0.2	8E-6	(Continuous)	0.48	[NR] unit increase	Affymetrix [2110417] (imputed)	N
1164	chr7	75978228	75978229	rs17149161	21654844	Briggs FB	2011-06-09	Genes Immun	Genome-wide association study of severity in multiple sclerosis.	Multiple sclerosis	1,470 European ancestry cases	NA	7q11.23	YWHAG	rs17149161-A	0.2	6E-6	(Extreme)	1.87	[NR]	Affymetrix [2110417] (imputed)	N
1165	chr7	76040863	76040864	rs6465122	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	7q11.23	ZP3	rs6465122-T	0.223	7E-7		1.67	[NR]	Illumina [3922209] (imputed)	N
1167	chr7	76390969	76390970	rs38664	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	7q11.23	UPK3B	rs38664-T	0.40	1E-7	(VOS)	0.05	[0.03-0.07] unit decrease	Affymetrix, Illumina [up to 2609590] (imputed)	N
1169	chr7	76608142	76608143	rs2245368	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q11.23	PMS2L11	rs2245368-C	0.19	7E-8		0.029	[0.018-0.039] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1169	chr7	76608142	76608143	rs2245368	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q11.23	PMS2L11	rs2245368-C	0.18	3E-8	(EA)	0.032	[0.021-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1169	chr7	76608142	76608143	rs2245368	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q11.23	PMS2L11	rs2245368-C	0.18	1E-6	(EA, men)	0.034	[0.02-0.048] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1169	chr7	76639870	76639871	rs6955651	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	7q11.23	KIAA1505	rs6955651-T	0.18	2E-6				Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1170	chr7	76738590	76738591	rs3864639	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q11.23	FAM185A	rs3864639-G	0.088	2E-7	(Urinary nitrogen )	0.05	[NR] g/d increase	Illumina [899892]	N
1170	chr7	76762950	76762951	rs12540771	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	7q11.23	CCDC146	rs12540771-?	NR	5E-6	(SF9)			Affymetrix [5476100] (imputed)	N
1172	chr7	77062711	77062712	rs7780883	24700089	Miura K	2014-04-04	J Med Virol	Genome-wide association study of HPV-associated cervical cancer in Japanese women.	Cervical cancer	226 Japanese ancestry cases, 186 Japanese ancestry controls	NA	7q11.23	intergenic	rs7780883-A	0.05376	2E-6		3.28	[1.956-5.50]	Affymetrix [556045]	N
1174	chr7	77308294	77308295	rs17807185	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	7q11.23	RSBN1L	rs17807185-A	0.618	4E-13		0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1175	chr7	77416438	77416439	rs6465825	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	7q11.23	PHTF2, RSBN1L, TMEM60	rs6465825-C	0.39	2E-9	(eGFRcrea)	0.01	[0.006-0.01] ml/min/1.73 m2 decrease]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1176	chr7	77549905	77549906	rs12234571	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q21.11	PHTF2, RSBN1L	rs12234571-C	0.056	6E-6	(Diet protein )	0.03	[NR] %energy increase	Illumina [899892]	N
1177	chr7	77596811	77596812	rs848452	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	7q21.11	PHTF2	rs848452-?	NR	2E-6	(DMFS2)			Illumina [518997]	N
1177	chr7	77682889	77682890	rs3807766	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7q21.11	NR	rs3807766-?	NR	4E-6	(EA)	0.2122	[0.12-0.3] unit decrease	Illumina [up to 11892802] (imputed)	N
1177	chr7	77689887	77689888	rs10251504	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	7q21.11	MAGI2	rs10251504-?	NR	6E-7		0.035	[NR] unit increase	Illumina [522636]	N
1177	chr7	77689887	77689888	rs10251504	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	7q21.11	MAGI2	rs10251504-?	NR	2E-6	(FEV1/FVC < 80%)	0.036	[NR] unit increase	Illumina [522636]	N
1177	chr7	77689887	77689888	rs10251504	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	7q21.11	MAGI2	rs10251504-?	NR	1E-6	(Males only)	0.036	[NR] unit increase	Illumina [522636]	N
1178	chr7	77828939	77828940	rs3779273	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q21.11	MAGI2	rs3779273-G	0.586	2E-7		0.015	[0.0095-0.0213] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1178	chr7	77828939	77828940	rs3779273	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q21.11	MAGI2	rs3779273-G	0.586	2E-6	(EA)	0.015	[0.0088-0.021] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1178	chr7	77838509	77838510	rs113527903	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q21.11	NR	rs113527903-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1179	chr7	77914342	77914343	rs798336	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	7q21.11	MAGI2	rs798336-T	0.88	2E-6				Affymetrix, Illumina [~ 2500000] (imputed)	N
1179	chr7	77917037	77917038	rs798338	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	7q21.11	MAGI2	rs798338-A	0.354	4E-6		0.111	[0.058-0.164] unit decrease	Illumina [6391392] (imputed)	N
1179	chr7	77964787	77964788	rs2691543	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Height	1,792 Filipino ancestry females	NA	7q21.11	RPL13AP17	rs2691543-T	0.97	5E-6		3.45	[1.97-4.93] cm increase	Affymetrix [2073674] (imputed)	N
1180	chr7	78043290	78043291	rs17150687	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	7q21.11	MAGI2	rs17150687-C	0.02	3E-6	(Bupropion, Sexual side effects)			Affymetrix [421789]	N
1181	chr7	78152671	78152672	rs62468577	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	7q21.11	MAGI2	rs62468577-G	0.82	6E-6	(Dominant model)	1.5385	[NR]	Illumina [1795103]	N
1181	chr7	78158471	78158472	rs12666870	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q21.11	MAGI2	rs12666870-G	0.249	3E-6	(Light activity )	0.04	[NR] min/d increase	Illumina [899892]	N
1181	chr7	78175976	78175977	rs11525066	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	7q21.11	MAGI2	rs11525066-?	NR	3E-6				Illumina [516645]	N
1182	chr7	78331464	78331465	rs1496766	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	7q21.11	MAGI2	rs1496766-C	0.014	5E-6		2.84	[1.81-4.44]	Affymetrix [444044]	N
1182	chr7	78336933	78336934	rs4727751	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q21.11	NR	rs4727751-T	NR	1E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1188	chr7	79109641	79109642	rs1859596	25003214	Davis OS	2014-07-08	Nat Commun	The correlation between reading and mathematics ability at age twelve has a substantial genetic component.	Reading or mathematical ability	up to 2,794 European ancestry unrelated members of twin pairs	2,153 European ancestry individuals	7q21.11	intergenic	rs1859596-T	0.35	4E-6	(reading)	0.111	[0.064-0.158] unit increase	Affymetrix [1588650] (imputed)	N
1192	chr7	79662226	79662227	rs10237103	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7q21.11	LOC100130215, LOC100128030	rs10237103-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1197	chr7	80236013	80236014	rs13236689	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	7q21.11	CD36	rs13236689-T	0.436	3E-9	(Platelet Count)	4.18	[2.81-5.55] 10^9 L increase	Affymetrix, Illumina [~ 2200000] (imputed)	N
1197	chr7	80258809	80258810	rs10499859	19454037	Arnett DK	2009-05-19	BMC Med Genet	Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study.	Left ventricular mass	101 European ancestry cases, 101 European ancestry controls	704 European ancestry individuals, 1,467 African American individuals	7q21.11	CD36	rs10499859-?	0.45	3E-6	(EA)	0.091	[NR] g/m2 increase	Affymetrix [96258]	N
1197	chr7	80286907	80286908	rs11574703	22890011	Frazier-Wood AC	2012-08-09	Pharmacogenet Genomics	Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.	Response to fenofibrate	817 European ancestry individuals	NA	7q21.11	CD36	rs11574703-T	NR	8E-8	(HDL diameter)	3.72	[2.39-5.05] unit decrease	Affymetrix [~ 2543887] (imputed)	N
1197	chr7	80340621	80340622	rs2366858	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	HDL cholesterol	7,917 African American individuals, 3,506 Hispanic individuals	7,138 African American individuals	7q21.11	CD36	rs2366858-C	0.173	6E-10	(AA)	0.0325	[NR] unit increase	Affymetrix [NR]	N
1199	chr7	80599356	80599357	rs4236644	19414484	Johnson AD	2009-05-04	Hum Mol Genet	Genome-wide association meta-analysis for total serum bilirubin levels.	Bilirubin levels	9,464 individuals	NA	7q21.11	SEMA3C	rs4236644-A	0.26	2E-6		0.02	[0.00-0.04] umol/l decrease in log(tbil)	Affymetrix, Illumina [2555103] (imputed)	N
1201	chr7	80799833	80799834	rs500454	24569950	Hatemi PK	2014-02-26	Behav Genet	Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.	Political ideology	11,388 European ancestry individuals from 6,758 families	NA	7q21.11	NR	rs500454-?		4E-6		0.4937	[0.28-0.70] unit increase	Illumina [> 269840] (imputed)	N
1201	chr7	80836708	80836709	rs17154917	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio)	Up to 829 European ancestry cases	NA	7q21.11	intergenic	rs17154917-T	0.022	3E-7		0.6656	[NR] unit decrease	Affymetrix [686595]	N
1205	chr7	81359050	81359051	rs5745687	25552591	Lieb W	2014-12-31	Circ Cardiovasc Genet	Genome-Wide Association Study for Endothelial Growth Factors.	Endothelial growth factor levels	up to 3,574 European ancestry individuals	up to 3,184 European ancestry individuals	7q21.11	HGF	rs5745687-T	0.077	4E-19	(HGF)	0.099	[0.077-0.121] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1208	chr7	81731445	81731446	rs258671	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	7q21.11	CACNA2D1	rs258671-?	NR	1E-6				Affymetrix, Illumina [~ 1300000]	N
1208	chr7	81768171	81768172	rs117576300	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	7q21.11	intergenic	rs117576300-A	0.028	6E-6		0.3	[0.17-0.43] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1208	chr7	81782513	81782514	rs6942458	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q21.11	CACNA2D1	rs6942458-G	0.219	6E-7	(HRmax )	0.05	[NR] bpm increase	Illumina [899892]	N
1208	chr7	81786219	81786220	rs2367911	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	7q21.11	NR	rs2367911-?	NR	5E-6		1.771	[NR]	Affymetrix [722112]	N
1209	chr7	81839552	81839553	rs11978472	23665963	Dubinsky MC	2013-05-09	Inflamm Bowel Dis	Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease.	Crohn's disease (need for surgery)	239 European ancestry cases that required surgery within 5 year, 375 European ancestry cases that did not require surgery within 5 years	NA	7q21.11	CACNA2D1	rs11978472-?	0.70	6E-6		2.0	[1.43-2.50]	Illumina [483359]	N
1209	chr7	81847650	81847651	rs10954668	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	7q21.11	CACNA2D1	rs10954668-A	0.33	7E-6		0.32	[NR] unit decrease	Illumina [324623]	N
1209	chr7	81857892	81857893	rs929351	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	7q21.11	CACNA2D1	rs929351-C	NR	8E-6	(Analysis II)			Illumina [313720]	N
1210	chr7	82002216	82002217	rs4732446	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	7q21.11	NR	rs4732446-?	NR	5E-6	(Native Hawaiian)	1.0501	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1211	chr7	82082437	82082438	rs10268774	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7q21.11	CACintergenic2D1, LOC442707	rs10268774-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1211	chr7	82115239	82115240	rs10262537	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	7q21.11	CACNA2D1	rs10262537-C		7E-6		0.08	[0.04-0.11] unit increase	Affymetrix [~ 2500000] (imputed)	N
1213	chr7	82337858	82337859	rs2371208	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	7q21.11	intergenic	rs2371208-?	NR	3E-6	(age at death)			Affymetrix [70897]	N
1214	chr7	82444371	82444372	rs2189246	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q21.11	NR	rs2189246-A	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1214	chr7	82450034	82450035	rs2715148	21621269	Aragam N	2011-05-26	J Affect Disord	Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.	Major depressive disorder	1,726 cases, 1,630 controls	NA	7q21.11	PCLO	rs2715148-?		1E-6				Perlegen [433556]	N
1220	chr7	83297261	83297262	rs6976769	25134534	Chen K	2014-08-19	Nat Commun	Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.	Epithelial ovarian cancer	1,044 Han Chinese ancestry cases, 1,172 Han Chinese ancestry controls	1,452 Han Chinese ancestry cases, 2,803 Han Chinese ancestry controls	7q21.11	SEMA3E, ABCB4	rs6976769-C	.05	4E-6		1.458	[1.056-2.012]	Illumina [710714]	N
1222	chr7	83609038	83609039	rs797820	21784300	Mick E	2011-07-13	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of the child behavior checklist dysregulation profile.	Attention deficit hyperactivity disorder	341 ADHD case offspring from 339 trios	NA	7q21.11	SEMA3A	rs797820-?	NR	8E-6				Illumina [835136]	N
1223	chr7	83656799	83656800	rs10235789	21835309	Larsson M	2011-08-12	Am J Hum Genet	GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.	Iris characteristics	2,121 European ancestry individuals	499 European ancestry adolescent twins and siblings, 73 European ancestry adult individuals	7q21.11	SEMA3A	rs10235789-C		7E-11	(Crypts)	0.12	[0.08-0.16] unit increase	Illumina [274604] (imputed)	N
1223	chr7	83656799	83656800	rs10235789	21835309	Larsson M	2011-08-12	Am J Hum Genet	GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.	Iris characteristics	2,121 European ancestry individuals	499 European ancestry adolescent twins and siblings, 73 European ancestry adult individuals	7q21.11	SEMA3A	rs10235789-C		3E-6	(Furrows)	0.09	[0.05-0.13] unit decrease	Illumina [274604] (imputed)	N
1224	chr7	83772414	83772415	rs447	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	7q21.11	SEMA3A	rs447-C	NR	4E-6	(5 degree of freedom test)	1.025	[1.00-1.05]	NR [1252901] (imputed)	N
1224	chr7	83782838	83782839	rs17158675	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q21.11	SEMA3A	rs17158675-A	0.057	9E-6	(Urinary free epinephrine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
1225	chr7	83911270	83911271	rs488333	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	7q21.11	SEMA3A	rs488333-?	NR	3E-6		1.2681	[NR]	Illumina [NR] (imputed)	N
1233	chr7	85048379	85048380	rs142857449	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	7q21.11	NR	rs142857449-?		5E-7	(PCB189)	0.94	[0.57-1.31] unit increase	Illumina [8736858] (imputed)	N
1237	chr7	85566475	85566476	rs17312438	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	7q21.11	intergenic	rs17312438-C	0.0116	9E-6		8.37	[7.43-9.31]	Illumina [8809853] (imputed)	N
1243	chr7	86348998	86348999	rs2189812	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q21.12	NR	rs2189812-C	0.258550537841469	6E-6	(IGP11)	0.1624	[0.092-0.233] unit increase	Illumina [~ 2500000] (imputed)	N
1244	chr7	86427625	86427626	rs12704290	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q21.12	NR	rs12704290-G	NR	7E-11		1.1111112	[NR]	Illumina [7158791] (imputed)	N
1244	chr7	86427625	86427626	rs12704290	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	7q21.12	GRM3	rs12704290-G	0.877	3E-10		1.1061947	[1.07-1.14]	Affymetrix, Illumina [9005918] (imputed)	N
1246	chr7	86696713	86696714	rs1476587	22479309	Boraska V	2012-03-29	PLoS One	Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts.	Brachial circumference	18,753 European ancestry individuals	3,623 European ancestry individuals	7q21.12	GRM3, DMTF1	rs1476587-G	0.141	7E-6		0.283	[0.16-0.41] unit increase	Affymetrix, Illumina [2238430] (imputed)	N
1247	chr7	86799440	86799441	rs11982256	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q21.12	NR	rs11982256-T	NR	1E-7		1.1627907	[NR]	Illumina [7158791] (imputed)	N
1247	chr7	86821979	86821980	rs11773103	20351715	Liu Y	2010-03-30	Mol Psychiatry	Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.	Bipolar disorder or major depressive disorder (combined)	4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls	NA	7q21.12	C7orf23, DMTF1	rs11773103-?	NR	1E-6				Affymetrix, Perlegen [1472580] (imputed)	N
1247	chr7	86861312	86861313	rs6942407	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Food allergy	671 European ancestry child cases, 144 European ancestry non-allergic non-sensitized child controls, 234 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	7q21.12	LOC100289677, TP53TG1	rs6942407-?	NR	8E-6				Illumina [6459842] (imputed)	N
1247	chr7	86874076	86874077	rs74464075	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	7q21.12	NR	rs74464075-?	NR	1E-6	(Native Hawaiian)	1.3228	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1250	chr7	87244959	87244960	rs13233308	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q21.12	NR	rs13233308-C	NR	3E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1251	chr7	87374868	87374869	rs114137957	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q21.12	RUNDC3B	rs114137957-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
1252	chr7	87543036	87543037	rs6966264	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q21.12	NR	rs6966264-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1253	chr7	87573646	87573647	rs12019361	21221126	Shen Y	2011-01-11	Pharmacogenomics J	Genome-wide association study of serious blistering skin rash caused by drugs.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	up to 72 European ancestry cases, up to 4,251 European ancestry controls	NA	7q21.12	ADAM22	rs12019361-?	NR	7E-6	(Lamotrigine)	12.0	[NR]	Illumina [up to 1000000]	N
1260	chr7	88481441	88481442	rs10248351	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	7q21.13	ZNF804B, C7orf62	rs10248351-C	0.007	7E-6		1.843	[1.43-2.37]	Illumina [870065]	N
1260	chr7	88552126	88552127	rs17301259	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	7q21.13	ZNF804B	rs17301259-A	0.76	4E-6	(Right HG area)	6.93	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1260	chr7	88560877	88560878	rs1406503	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Body mass index	1,780 Filipino ancestry females	NA	7q21.13	ZNF804B	rs1406503-C	0.05	9E-6		0.07	[0.04-0.10] unit increase	Affymetrix [2073674] (imputed)	N
1260	chr7	88596384	88596385	rs6959888	21079607	Wang K	2010-11-16	Mol Psychiatry	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	Anorexia nervosa	1,033 European ancestry cases, 3,733 European ancestry controls	NA	7q21.13	ZNF804B	rs6959888-?	0.11	2E-6				Illumina [~ 598000]	N
1260	chr7	88599784	88599785	rs3899697	24700089	Miura K	2014-04-04	J Med Virol	Genome-wide association study of HPV-associated cervical cancer in Japanese women.	Cervical cancer	226 Japanese ancestry cases, 186 Japanese ancestry controls	NA	7q21.13	ZNF804B	rs3899697-A	0.2787	9E-6		1.949	[1.449-2.621]	Affymetrix [556045]	N
1261	chr7	88695069	88695070	rs10236237	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q21.13	NR	rs10236237-T	0.267901504028648	7E-6	(IGP6)	0.1584	[0.089-0.228] unit decrease	Illumina [~ 2500000] (imputed)	N
1261	chr7	88695069	88695070	rs10236237	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q21.13	NR	rs10236237-T	0.267777818671454	5E-6	(IGP46)	0.1613	[0.092-0.23] unit decrease	Illumina [~ 2500000] (imputed)	N
1261	chr7	88695069	88695070	rs10236237	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q21.13	NR	rs10236237-T	0.26751565049416	6E-6	(IGP60)	0.16	[0.091-0.229] unit increase	Illumina [~ 2500000] (imputed)	N
1264	chr7	89060732	89060733	rs6973392	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	7q21.13	ZNF804B	rs6973392-?	NR	7E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1268	chr7	89628634	89628635	rs73215715	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	7q21.13	DPY19L2P4	rs73215715-A	0.27	9E-6	(Right HG area)	4.95	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1268	chr7	89636223	89636224	rs7798970	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	7q21.13	STEAP2-AS1	rs7798970-?	NR	3E-6	(Shared)			Affymetrix, Illumina [~ 5200000]	N
1269	chr7	89763863	89763864	rs10266254	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	7q21.13	STEAP1	rs10266254-A	0.96	6E-6	(AA)	0.61	[0.34-0.88] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1271	chr7	89977759	89977760	rs42648	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	7q21.13	GTPB10	rs42648-A	0.4	2E-8		0.0395	[0.026-0.053] unit decrease	Affymetrix, Illumina [2090256] (imputed)	N
1277	chr7	90781986	90781987	rs813379	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	7q21.13	CDK14	rs813379-G	0.06	5E-6	(EA)	0.1	[0.061-0.139] unit decrease	Illumina [up to 905285]	N
1278	chr7	90915353	90915354	rs2888830	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	7q21.13	LOC644727, FZD1, HOXA10	rs2888830-?	NR	7E-6	(Comparatively Older)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1278	chr7	90915353	90915354	rs2888830	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	7q21.13	LOC644727, FZD1, HOXA10	rs2888830-?	NR	4E-6				Affymetrix, Illumina [~ 1400000] (imputed)	N
1278	chr7	90944267	90944268	rs1429524	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q21.13	NR	rs1429524-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1281	chr7	91240296	91240297	rs2540552	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q21.2	NR	rs2540552-C	0.58104074197861	8E-6	(IGP25)	0.1381	[0.078-0.199] unit increase	Illumina [~ 2500000] (imputed)	N
1281	chr7	91272343	91272344	rs1476442	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q21.2	MTERF	rs1476442-C	0.221	3E-6	(LDL )	0.02	[NR] mg/dL increase	Illumina [899892]	N
1285	chr7	91763622	91763623	rs2229188	25918517	Yashin AI	2015-04-13	Front Genet	Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.	Lifespan	679 female individuals	432 male individuals	7q21.2	CYP51A1	rs2229188-?	0.087	2E-8	(females)	5.445	[NR] unit decrease	Affymetrix [429783]	N
1288	chr7	92236828	92236829	rs4272	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	7q21.2	CDK6	rs4272-G	0.21	1E-8	(EA)	1.1	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1288	chr7	92236828	92236829	rs4272	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	7q21.2	CDK6	rs4272-G	0.19	5E-9		1.1	[1.06-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1288	chr7	92244421	92244422	rs42039	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	7q21.2	CDK6	rs42039-T	0.266	4E-88		0.068	[0.062-0.074] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1288	chr7	92246743	92246744	rs42041	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	7q21.2	CDK6	rs42041-G	0.24	4E-6		1.11	[NR]	Affymetrix, Illumina [at least 315971] (imputed)	N
1288	chr7	92248075	92248076	rs42235	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	7q21.2	CDK6	rs42235-T	0.3	1E-28		1.28	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1288	chr7	92248075	92248076	rs42235	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	7q21.2	CDK6	rs42235-T	0.31	8E-47		0.057	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1288	chr7	92256904	92256905	rs2040494	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	7q21.2	CDK6	rs2040494-C	0.5	4E-7		0.26	[0.36-0.65] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
1288	chr7	92264409	92264410	rs2282978	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	7q21.2	CDK6	rs2282978-?	0.08	1E-8		0.06	[0.04-0.08] s.d. decrease	Illumina [229216]	N
1288	chr7	92264409	92264410	rs2282978	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	7q21.2	CDK6	rs2282978-C	0.33	8E-23		0.09	[0.06-0.12] s.d. increase (males)	Affymetrix [402951]	N
1288	chr7	92264409	92264410	rs2282978	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	7q21.2	CDK6, PEX1, GATAD1, ERVWE1	rs2282978-C	0.29	1E-8		5.8	[3.84-7.76] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1290	chr7	92408369	92408370	rs445	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	7q21.2	CDK6	rs445-C	0.685	9E-11	(Japanese)	0.019	[0.013-0.025] unit increase	Illumina [NR] (imputed)	N
1290	chr7	92408369	92408370	rs445	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	7q21.2	CDK6	rs445-C	0.685	9E-6	(Japanese)	0.024	[0.014-0.034] unit increase	Illumina [NR] (imputed)	N
1290	chr7	92408369	92408370	rs445	21738479	Reiner AP	2011-06-30	PLoS Genet	Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).	White blood cell count	16,388 African American individuals	3,551 Hispanic individuals, 14,767 Japanese ancestry individuals, 19,509 European ancestry individuals	7q21.2	CDK6	rs445-T	0.19	4E-7		0.025	[0.02-0.04] liter decrease	Affymetrix, Illumina [2489215] (imputed)	N
1290	chr7	92408369	92408370	rs445	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	7q21.2	CDK6	rs445-C	0.69	7E-10	(neutrophil count)	0.076	[0.06-0.10] unit increase	Illumina [2178645] (imputed)	N
1290	chr7	92408369	92408370	rs445	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	7q21.2	CDK6	rs445-T	0.32	2E-8		0.07	[0.045-0.095] unit decrease	Illumina [561583]	N
1291	chr7	92622649	92622650	rs12704645	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	7q21.2	intergenic	rs12704645-?		8E-6	(PC2)	0.0557	[NR] unit increase	Illumina [4167292] (imputed)	N
1292	chr7	92764981	92764982	rs1133906	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	7q21.2	SAMD9L	rs1133906-?		2E-7	(lcSSc)	1.21	[NR]	Illumina [NR]	N
1296	chr7	93197731	93197732	rs9641123	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q21.3	CALCR	rs9641123-C	0.429	5E-7	(EA)	0.019	[0.012-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1296	chr7	93197731	93197732	rs9641123	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q21.3	CALCR	rs9641123-C	0.429	2E-7	(EA, women)	0.025	[0.016-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1296	chr7	93197731	93197732	rs9641123	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q21.3	CALCR	rs9641123-C	0.427	2E-7		0.019	[0.012-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1296	chr7	93199927	93199928	rs7786765	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	7q21.3	CALCR	rs7786765-?	NR	9E-6		0.41	[0.23-0.59] unit increase	Illumina [1075436] (imputed)	N
1296	chr7	93241639	93241640	rs7780752	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	7q21.3	CALCR	rs7780752-T	0.64	2E-7		0.029	[0.017-0.041] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
1298	chr7	93538294	93538295	rs180273	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	7q21.3	intergenic	rs180273-?	NR	7E-6	(FEV1/FVC decline in non-asthmatics)	0.1512	[0.085-0.217] unit increase	Illumina [~ 2500000] (imputed)	N
1298	chr7	93549595	93549596	rs180242	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	7q21.3	GNG11	rs180242-T	0.333	7E-12		0.316	[0.21-0.42] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1299	chr7	93637624	93637625	rs10260824	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	7q21.3	BET1	rs10260824-C		5E-6		1.749		Affymetrix [NR]	N
1299	chr7	93691743	93691744	rs9918668	22773346	Edwards DR	2012-07-07	Age (Dordr)	Linkage and association of successful aging to the 6q25 region in large Amish kindreds.	Aging	263 Amish individuals aged 80 years or older	NA	7q21.3	COL1A2, BET1	rs9918668-?	0.43	6E-7				Affymetrix [630309]	N
1299	chr7	93713520	93713521	rs10487245	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q21.3	BET1	rs10487245-A	0.148	2E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1301	chr7	93880092	93880093	rs2110483	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q21.3	NR	rs2110483-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
1302	chr7	94000472	94000473	rs10262915	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	7q21.3	COL1A2	rs10262915-?,rs6465411-?,rs13221576-?,rs4729127-?	NR	9E-8				Illumina [795637]	N
1302	chr7	94003259	94003260	rs6465411	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	7q21.3	COL1A2	rs10262915-?,rs6465411-?,rs13221576-?,rs4729127-?	NR	9E-8				Illumina [795637]	N
1302	chr7	94006993	94006994	rs13221576	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	7q21.3	COL1A2	rs10262915-?,rs6465411-?,rs13221576-?,rs4729127-?	NR	9E-8				Illumina [795637]	N
1302	chr7	94008534	94008535	rs4729127	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	7q21.3	COL1A2	rs10262915-?,rs6465411-?,rs13221576-?,rs4729127-?	NR	9E-8				Illumina [795637]	N
1302	chr7	94009633	94009634	rs7792596	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	7q21.3	COL1A2	rs7792596-?	NR	6E-7	(High intelligence)	4.13	[2.52-5.74] unit increase	Illumina [795637]	N
1302	chr7	94047265	94047266	rs3736638	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	7q21.3	COL1A2	rs3736638-A		3E-7	(EA)			Illumina [NR]	N
1302	chr7	94053999	94054000	rs441051	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Mean forced vital capacity from 2 exams	Up to 1,222 individuals	NA	7q21.3	COL1A2	rs441051-?	NR	2E-6	(meanFVC)			Affymetrix [70897]	N
1302	chr7	94061403	94061404	rs115744676	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q21.3	COL1A2	rs115744676-?	NR	7E-9				Affymetrix [5486770] (imputed)	N
1309	chr7	94930390	94930391	rs854555	18615156	Liu C	2008-07-10	Mol Med	Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.	Response to TNF antagonist treatment	89 European ancestry cases	NA	7q21.3	PON1	rs854555-A	0.34	2E-6				Illumina [283348]	N
1309	chr7	94938256	94938257	rs2057681	23281178	Hong MG	2013-03-01	Hum Mutat	A genome-wide assessment of variability in human serum metabolism.	Metabolite levels	214 European ancestry prostate cancer cases, 188 European ancestry controls	489 European ancestry prostate cancer cases	7q21.3	PON1	rs2057681-G	NR	7E-15	(C9H14Ona)			Affymetrix [333722]	N
1309	chr7	94938256	94938257	rs2057681	22982463	Tang WH	2012-09-13	Arterioscler Thromb Vasc Biol	Clinical and genetic association of serum paraoxonase and arylesterase activities with cardiovascular risk.	Paraoxonase activity	2,136 European ancestry individuals	NA	7q21.3	PON-1	rs2057681-G	0.29	1E-303	(Serum Paraoxonases activity)			Affymetrix [2421770] (imputed)	N
1309	chr7	94954695	94954696	rs854572	22982463	Tang WH	2012-09-13	Arterioscler Thromb Vasc Biol	Clinical and genetic association of serum paraoxonase and arylesterase activities with cardiovascular risk.	Paraoxonase activity	2,136 European ancestry individuals	NA	7q21.3	PON-1	rs854572-C	0.46	5E-116	(Serum Arylesterase activity)			Affymetrix [2421770] (imputed)	N
1310	chr7	95034774	95034775	rs7493	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	7q21.3	PON2	rs7493-C	0.177	5E-6	(Genotype model)	1.06	[0.74-1.51]	Illumina [508761]	N
1310	chr7	95117702	95117703	rs11977715	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Middle childhood and early adolescence aggressive behavior	16,311 European ancestry individuals	NA	7q21.3	ASB4	rs11977715-A	0.2189	8E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
1311	chr7	95169513	95169514	rs6465468	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q21.3	ASB4	rs6465468-T	0.306	5E-8	(EA, women)	0.025	[0.016-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1311	chr7	95169513	95169514	rs6465468	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q21.3	ASB4	rs6465468-T	0.304	2E-6	(EA)	0.017	[0.0097-0.0235] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1311	chr7	95169513	95169514	rs6465468	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q21.3	ASB4	rs6465468-T	0.3	2E-6		0.016	[0.0093-0.0227] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1313	chr7	95455844	95455845	rs3779483	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	7q21.3	DYNC1I1	rs3779483-T	0.0554	2E-6	(Complete)	1.2911	[0.76-1.82] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1313	chr7	95455844	95455845	rs3779483	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	7q21.3	DYNC1I1	rs3779483-T	0.0553	2E-6	(Primary)	1.2925	[0.76-1.82] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1314	chr7	95600367	95600368	rs13231718	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-10)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	7q21.3	DYNC1I1	rs13231718-C		5E-9	(AA)			Illumina [NR]	N
1314	chr7	95624309	95624310	rs1988399	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7q21.3	NR	rs1988399-?	NR	7E-6	(Native Hawaiian)	0.2318	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1314	chr7	95631195	95631196	rs1488515	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q21.3	DYNC1I1	rs1488515-C	0.225	2E-6	(Total energy expenditure RQ)	0.04	[NR] unit increase	Illumina [899892]	N
1314	chr7	95631195	95631196	rs1488515	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q21.3	DYNC1I1	rs1488515-C	0.225	1E-6	(Fat oxidation )	0.04	[NR] %NPEE increase	Illumina [899892]	N
1315	chr7	95700007	95700008	rs77909595	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q21.3	NR	rs77909595-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1318	chr7	96117917	96117918	rs4729260	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	7q21.3	FLJ42280	rs4729260-G	0.32	2E-10		0.08	[0.05-0.11] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
1318	chr7	96119480	96119481	rs10429035	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	7q21.3	FLJ42280	rs10429035-?	NR	4E-12	(hip)			Affymetrix, Illumina [5842825] (imputed)	N
1318	chr7	96120674	96120675	rs4727338	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	7q21.3	SLC25A13	rs4727338-C	0.67	8E-48	(FNBMD)	0.08	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1318	chr7	96133530	96133531	rs7781370	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	7q21.3	FLJ42280	rs7781370-T	0.34	5E-12		0.08	[0.06-0.10] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
1318	chr7	96134980	96134981	rs4132568	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Nicotine glucouronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	7q21.3	SHFM1	rs4132568-A	NR	3E-8		0.0343	[NR] unit decrease	Illumina [11892802] (imputed)	N
1320	chr7	96362343	96362344	rs1464807	20732625	Neale BM	2010-08-01	J Am Acad Child Adolesc Psychiatry	Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	2,064 European ancestry trios, 896 European ancestry cases, 2,455 European ancestry controls	NA	7q21.3	SHFM1	rs1464807-T	NR	1E-6				Affymetrix, Illumina, Perlegen [1206462] (imputed)	N
1320	chr7	96415054	96415055	rs12669076	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	7q21.3	SHFM1	rs12669076-?	0.66	2E-6		1.35	[1.18-1.54]	Illumina [2057134] (imputed)	N
1321	chr7	96581810	96581811	rs17598306	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	7q21.3	DLX6AS	rs17598306-?	0.08	9E-6				Affymetrix, Illumina [1348798]	N
1321	chr7	96598825	96598826	rs10486860	25064007	Nakajima M	2014-07-27	Nat Genet	A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.	Ossification of the posterior longitudinal ligament of the spine	1,112 Japanese ancestry cases, 6,810 Japanese ancestry controls	548 Japanese ancestry cases, 6,469 Japanese ancestry controls	7q21.3	NR	rs10486860-?	NR	4E-6		1.24	[1.13-1.36]	Illumina [5163786] (imputed)	N
1325	chr7	97017794	97017795	rs10255878	23719583	Kerns SL	2013-05-26	Radiother Oncol	Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.	Adverse response to radiation therapy	79 European, African, Asian, and Hispanic ancestry cases, 241 European, African, Asian, and Hispanic ancestry controls	107 European, African, Asian, and Hispanic ancestry cases, 671 European, African, Asian, and Hispanic ancestry controls	7q21.3	ACN9, TAC1	rs10255878-?	0.14	4E-6		5.2	[1.9-14.5]	Affymetrix [614453]	N
1326	chr7	97229777	97229778	rs10486003	22020760	Won HH	2011-10-21	Cancer	Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients.	Response to platinum-based agents	96 colon cancer cases	247 colon cancer cases	7q21.3	TAC1	rs10486003-?	NR	5E-7		3.13	[1.92-5.26]	Affymetrix [656843]	N
1328	chr7	97422925	97422926	rs1229542	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		7q21.3	intergenic	rs1229542-?	.864	2E-6			[NR]	Affymetrix, Illumina [152234]	N
1329	chr7	97620690	97620691	rs13438327	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	7q21.3	OCM2	rs13438327-?	0.09	2E-6	(Recessive)	2.05	[1.53-2.76]	Affymetrix [319222]	N
1331	chr7	97816326	97816327	rs6465657	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	7q21.3	NR	rs6465657-?	NR	2E-8				Illumina [541129]	N
1331	chr7	97816326	97816327	rs6465657	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	7q21.3	LMTK2	rs6465657-C	0.46	1E-9		1.12	[1.05-1.20]	Illumina [541129]	N
1332	chr7	97924553	97924554	rs77443149	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q21.3	BAIAP2L1	rs77443149-A	0.039	8E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1332	chr7	97993361	97993362	rs3779195	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	7q21.3	BAIAP2L1	rs3779195-A	0.17	3E-8	(Men + Women)	0.028	[0.018-0.038] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1332	chr7	98021210	98021211	rs9649213	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	7q21.3	BAIAP2L1	rs9649213-?	NR	1E-6	(rs4962416)	1.28	[1.16-1.42]	Affymetrix, Illumina [1117531] (imputed)	N
1338	chr7	98750378	98750379	rs2395022	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q22.1	NR	rs2395022-?	NR	9E-15	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1338	chr7	98759116	98759117	rs9297145	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q22.1	NR	rs9297145-C	0.2581	4E-7	(EA)	1.073924	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1338	chr7	98759116	98759117	rs9297145	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q22.1	NR	rs9297145-C	0.2581	4E-8	(EA)	1.0761806	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1338	chr7	98759116	98759117	rs9297145	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	7q22.1	SMURF1	rs9297145-C	0.265	8E-12		1.082	[1.047-1.117]	Affymetrix, Illumina [1230000] (imputed)	N
1338	chr7	98760503	98760504	rs7809799	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	7q22.1	SMURF1, KPNA7	rs7809799-G	0.04	9E-11		1.56	[1.36-1.78]	Affymetrix [1897764] (imputed)	N
1339	chr7	98932758	98932759	rs147642358	25935875	Varenhorst C	2015-05-02	Eur Heart J	Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.	Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor	1,794 European ancestry cases, 18 African and Asian ancestry cases	1,922 European ancestry cases, 19 African and Asian ancestry cases	7q22.1	ARPC1A, MYH16	rs147642358-G	0.022	6E-12		0.25	[0.18-0.32] unit increase	Illumina [10962468] (imputed)	N
1339	chr7	98957879	98957880	rs740160	21533175	Zhai G	2011-04-14	PLoS Genet	Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.	Dehydroepiandrosterone sulphate levels	14,846 European ancestry individuals	NA	7q22.1	ARPC1A	rs740160-T	0.05	2E-16		0.15	[0.11-0.19] umol/L increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1340	chr7	99075037	99075038	rs148982377	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	7q22.1	ZNF789	rs148982377-C	0.038	5E-7	(Testosterone)	0.203	[NR] unit decrease	Illumina [7879351] (imputed)	N
1340	chr7	99075037	99075038	rs148982377	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	7q22.1	ZNF789	rs148982377-C	0.038	3E-13	(Progesterone)	0.331	[NR] unit decrease	Illumina [7879351] (imputed)	N
1340	chr7	99075037	99075038	rs148982377	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	7q22.1	ZNF789	rs148982377-C	0.038	2E-14	(DHEAS)	0.255	[NR] unit decrease	Illumina [7879351] (imputed)	N
1341	chr7	99115676	99115677	rs12533251	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q22.1	CYP3A5	rs12533251-A	0.09	2E-11	(X-18601)	0.057	[0.039-0.075] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1341	chr7	99118800	99118801	rs11761528	21533175	Zhai G	2011-04-14	PLoS Genet	Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.	Dehydroepiandrosterone sulphate levels	14,846 European ancestry individuals	NA	7q22.1	ZKSCAN5	rs11761528-T	0.08	3E-36		0.16	[0.14-0.18] umol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1341	chr7	99130833	99130834	rs34670419	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	7q22.1	ZKSCAN5, CYP3A4, CYP3A7	rs34670419-T	0.037	6E-14	(Progesterone)	0.346	[NR] unit decrease	Illumina [7879351] (imputed)	N
1341	chr7	99130833	99130834	rs34670419	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	7q22.1	ZKSCAN5, CYP3A4, CYP3A7	rs34670419-T	0.037	2E-7	(Testosterone)	0.213	[NR] unit decrease	Illumina [7879351] (imputed)	N
1341	chr7	99130833	99130834	rs34670419	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	7q22.1	ZKSCAN5, CYP3A4, CYP3A7	rs34670419-T	0.037	2E-14	(DHEAS)	0.259	[NR] unit decrease	Illumina [7879351] (imputed)	N
1341	chr7	99141372	99141373	rs10278040	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q22.1	CYP3A5	rs10278040-A	0.04	9E-113	(androsterone sulfate)	0.361	[0.33-0.39] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1341	chr7	99141372	99141373	rs10278040	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q22.1	CYP3A5	rs10278040-A	0.04	1E-29	(5alpha-androstan-3beta,17beta-diol disulfate)	0.19	[0.16-0.22] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1341	chr7	99163950	99163951	rs11974702	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q22.1	CYP3A5	rs11974702-A	0.91	3E-75	(epiandrosterone sulfate)	0.184	[0.16-0.2] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1341	chr7	99184777	99184778	rs7809615	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	7q22.1	CYP3A5	rs7809615-T	0.09	8E-139	(androsterone sulfate/4-androsten-3beta,17beta-diol disulfate 2)	0.249	[0.23-0.27] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1341	chr7	99207875	99207876	rs7792939	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	7q22.1	ZNF498	rs7792939-?	0.15	6E-6	(hip circumference)	0.26	[0.15-0.37] mm increase	Illumina [316730]	N
1341	chr7	99207875	99207876	rs7792939	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	7q22.1	ZNF498	rs7792939-?	0.15	5E-6	(brachial circumference)	0.26	[0.15-0.37] mm increase	Illumina [316730]	N
1341	chr7	99207875	99207876	rs7792939	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	7q22.1	ZNF498	rs7792939-?	0.15	4E-6	(weight)	0.26	[0.15-0.37] kg increase	Illumina [316730]	N
1342	chr7	99240178	99240179	rs10242455	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q22.1	CYP3A5	rs10242455-A	0.93	2E-109	(X-12063)	0.221	[0.2-0.24] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1342	chr7	99266317	99266318	rs4646450	25898920	Korostishevsky M	2015-04-22	Eur J Hum Genet	Genomics and metabolomics of muscular mass in community-based sample of UK females.	Blood metabolite levels	3,953 European ancestry individuals	NA	7q22.1	NR	rs4646450-?	NR	5E-50	(X12063 levels)			Illumina [2300000]	N
1342	chr7	99286638	99286639	rs188845491	25935875	Varenhorst C	2015-05-02	Eur Heart J	Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.	Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor	1,794 European ancestry cases, 18 African and Asian ancestry cases	1,922 European ancestry cases, 19 African and Asian ancestry cases	7q22.1	CYP3A5	rs188845491-C	0.007	3E-12		0.495	[0.36-0.63] unit increase	Illumina [10962468] (imputed)	N
1343	chr7	99421084	99421085	rs62471956	25935875	Varenhorst C	2015-05-02	Eur Heart J	Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.	Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor	1,794 European ancestry cases, 18 African and Asian ancestry cases	1,922 European ancestry cases, 19 African and Asian ancestry cases	7q22.1	CYP3A43, CYP3A4, CYP3A52P	rs62471956-G	0.034	1E-14		0.211	[0.16-0.26] unit increase	Illumina [10962468] (imputed)	N
1344	chr7	99489570	99489571	rs17277546	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	7q22.1	CYP3A4	rs17277546-A	0.045	9E-40	(androsterone sulfate + 2 other traits)	0.476	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1344	chr7	99489570	99489571	rs17277546	21533175	Zhai G	2011-04-14	PLoS Genet	Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.	Dehydroepiandrosterone sulphate levels	14,846 European ancestry individuals	NA	7q22.1	TRIM4, CYP3A43	rs17277546-A	0.05	2E-11		0.11	[0.07-0.15] umol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1344	chr7	99543626	99543627	rs140104968	25935875	Varenhorst C	2015-05-02	Eur Heart J	Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.	Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor	1,794 European ancestry cases, 18 African and Asian ancestry cases	1,922 European ancestry cases, 19 African and Asian ancestry cases	7q22.1	AZGP1P1, ZKSCAN1	rs140104968-C	0.019	4E-10		0.224	[0.15-0.29] unit increase	Illumina [10962468] (imputed)	N
1344	chr7	99593345	99593346	rs4727443	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	7q22.1	intergenic	rs4727443-C	0.39	1E-8		1.3	[1.20-1.41]	Illumina [439828]	N
1346	chr7	99841353	99841354	rs117038461	25935875	Varenhorst C	2015-05-02	Eur Heart J	Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.	Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor	1,794 European ancestry cases, 18 African and Asian ancestry cases	1,922 European ancestry cases, 19 African and Asian ancestry cases	7q22.1	STAG3, PVRIG, GATS	rs117038461-C	0.017	9E-10		0.232	[0.16-0.31] unit increase	Illumina [10962468] (imputed)	N
1347	chr7	99940306	99940307	rs13228694	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q22.1	PMS2L1	rs13228694-A	0.043	6E-6	(IGF1 free )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1347	chr7	100004445	100004446	rs1476679	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	7q22.1	ZCWPW1	rs1476679-T	0.713	6E-10		1.0989	[1.06-1.12]	Illumina [7055881] (imputed)	N
1348	chr7	100015456	100015457	rs13222543	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	7q22.1	ZCWPW1	rs13222543-T	0.02	4E-104	(androsterone sulfate/4-androsten-3beta,17beta-diol disulfate 2)	0.49	[0.44-0.54] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1348	chr7	100015456	100015457	rs13222543	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q22.1	ZCWPW1	rs13222543-T	0.02	7E-74	(androsterone sulfate)	0.477	[0.43-0.53] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1348	chr7	100015456	100015457	rs13222543	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q22.1	ZCWPW1	rs13222543-T	0.02	3E-47	(epiandrosterone sulfate)	0.347	[0.3-0.39] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1348	chr7	100015456	100015457	rs13222543	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q22.1	ZCWPW1	rs13222543-T	0.02	1E-20	(5alpha-androstan-3beta,17beta-diol disulfate)	0.263	[0.21-0.32] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1348	chr7	100080737	100080738	rs7808970	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	7q22.1	C7orf51	rs7808970-G	0.383	1E-7		0.52	[0.32-0.72] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1348	chr7	100103522	100103523	rs140607780	25935875	Varenhorst C	2015-05-02	Eur Heart J	Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.	Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor	1,794 European ancestry cases, 18 African and Asian ancestry cases	1,922 European ancestry cases, 19 African and Asian ancestry cases	7q22.1	NR	rs140607780-G	0.016	3E-11		0.273	[0.19-0.35] unit increase	Illumina [10962468] (imputed)	N
1349	chr7	100214014	100214015	rs7786877	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	7q22.1	TFR2	rs7786877-G	NR	3E-11		0.0	[0.002-0.004] fl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1349	chr7	100235969	100235970	rs7385804	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin saturation)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	7q22.1	TFR2	rs7385804-A	0.621	6E-12		0.054	[0.038-0.07] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
1349	chr7	100235969	100235970	rs7385804	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (iron levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	7q22.1	TFR2	rs7385804-A	0.621	1E-18		0.064	[0.050-0.078] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
1349	chr7	100235969	100235970	rs7385804	21208937	Pichler I	2011-01-04	Hum Mol Genet	Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.	Iron status biomarkers	Up to 5,633 European ancestry individuals	Up to 3,457 European ancestry individuals	7q22.1	TFR2	rs7385804-A	0.65	7E-8	(iron)	3.23	[2.05-4.41] ug/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1349	chr7	100235969	100235970	rs7385804	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hematocrit	24,167 European ancestry individuals	9,456 European ancestry individuals	7q22.1	TFR2	rs7385804-C	NR	4E-10		0.15	[0.10-0.20] % decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1349	chr7	100235969	100235970	rs7385804	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	7q22.1	TFR2	rs7385804-C	NR	5E-10	(RBC)	0.01	[0.004-0.008] 10^12/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1349	chr7	100240295	100240296	rs2075672	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	7q22.1	ACTL6B, TFR2	rs2075672-A	0.39	2E-20	(EA, RBCC)	0.022	[0.016-0.028] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1350	chr7	100315516	100315517	rs1734907	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q22.1	NR	rs1734907-A	NR	4E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1350	chr7	100315516	100315517	rs1734907	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	7q22.1	EPO	rs1734907-A	0.149	2E-13		1.114	[1.071-1.158]	Affymetrix, Illumina [1230000] (imputed)	N
1350	chr7	100345105	100345106	rs2075671	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Other erythrocyte phenotypes	24,167 European ancestry individuals	9,456 European ancestry individuals	7q22.1	EPO	rs2075671-A	NR	1E-9	(RBC)	0.0	[0.005-0.009] 1 M cell/mm^3 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1351	chr7	100423364	100423365	rs314313	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q22.1	NR	rs314313-G	0.3043	4E-6	(EA)	1.0641211	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1351	chr7	100423364	100423365	rs314313	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q22.1	NR	rs314313-G	0.3043	4E-10	(EA)	1.0688285	[1.05-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1351	chr7	100423364	100423365	rs314313	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q22.1	NR	rs314313-G	0.3043	3E-8	(EA)	1.0734991	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1351	chr7	100453207	100453208	rs314370	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	7q22.1	SLC12A9	rs314370-C	0.19	6E-10		7.6	[5.23-9.97] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1351	chr7	100458092	100458093	rs7801190	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Hypertension	4,069 African American cases, 3,848 African American controls	1,372 African American cases, 1,482 African American controls	7q22.1	SLC12A9	rs7801190-C	0.72	3E-8		1.31	[1.19-1.44]	Affymetrix [~ 2740000] (imputed)	N
1351	chr7	100486753	100486754	rs12666989	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	7q22.1	UFSP1	rs12666989-C	0.18	2E-8		7.0	[4.63-9.37] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1351	chr7	100490076	100490077	rs7636	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	7q22.1	ACHE	rs7636-A	0.06	5E-6	(Indian)	1.85	[1.42-2.41]	Illumina [~ 2000000] (imputed)	N
1351	chr7	100497130	100497131	rs13245899	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	7q22.1	ACHE	rs13245899-G	0.195	8E-27		0.447	[0.34-0.55] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1351	chr7	100512118	100512119	rs6976053	22990020	Huang J	2012-09-18	Blood	Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.	Plasminogen activator inhibitor type 1 levels (PAI-1)	19,599 European ancestry individuals	10,764 European ancestry individuals	7q22.1	UFSP1, SLC12A9, TRIP6, SRRT, EPHB4, ACHE, MUC3	rs6976053-?	NR	6E-13		0.048	[NR] unit increase	Affymetrix, Illumina [2445683] (imputed)	N
1353	chr7	100769537	100769538	rs2227631	22990020	Huang J	2012-09-18	Blood	Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.	Plasminogen activator inhibitor type 1 levels (PAI-1)	19,599 European ancestry individuals	10,764 European ancestry individuals	7q22.1	SERPINE1	rs2227631-?	NR	3E-24		0.073	[NR] unit increase	Affymetrix, Illumina [2445683] (imputed)	N
1353	chr7	100774748	100774749	rs2227667	24578379	Huang J	2014-02-27	Arterioscler Thromb Vasc Biol	Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.	Plasma plasminogen activator levels	26,217 European ancestry individuals, 712 Orcadian individuals	4,487 European ancestry individuals	7q22.1	SERPINE1	rs2227667-A	0.804	3E-6		0.027	[0.015-0.039] unit increase	Affymetrix, Illumina [2455857] (imputed)	N
1354	chr7	100881402	100881403	rs3757458	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	7q22.1	NR	rs3757458-A	0.01	2E-6		8.0	[4.77-11.23] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1356	chr7	101115993	101115994	rs17135437	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	7q22.1	EMID2	rs17135437-A	NR	3E-6	(AA - Visionhearing)			Affymetrix [421789]	N
1356	chr7	101115993	101115994	rs17135437	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	7q22.1	EMID2	rs17135437-A	0.019	3E-8	(EA + AA - Visionhearing)			Affymetrix [421789]	N
1356	chr7	101129764	101129765	rs73712171	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q22.1	NR	rs73712171-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
1357	chr7	101286176	101286177	rs1722229	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	7q22.1	MYL10	rs1722229-?	0.034	1E-6	(S-CT concentration, adjusted for CYP2C19)			Illumina [7537437] (imputed)	N
1360	chr7	101675298	101675299	rs73405966	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q22.1	NR	rs73405966-T	NR	9E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1361	chr7	101809850	101809851	rs365836	22584459	Sasayama D	2012-05-15	Pharmacogenomics J	Possible association of CUX1 gene polymorphisms with antidepressant response in major depressive disorder.	Response to antidepressants	92 Japanese ancestry cases	136 Japanese ancestry cases	7q22.1	CUX1	rs365836-A	NR	2E-6		4.79	[2.38-9.64]	Illumina [291512]	N
1367	chr7	102519030	102519031	rs17135875	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (cold pressor test)	1,881 Han Chinese ancestry individuals	698 Han Chinese ancestry individuals	7q22.1	FBXL13	rs17135875-C	0.01	4E-9	(MAP, Time 0)	3.44	[2.30-4.58] mmHg decrease	Affymetrix [2216774] (imputed)	N
1367	chr7	102519030	102519031	rs17135875	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (cold pressor test)	1,881 Han Chinese ancestry individuals	698 Han Chinese ancestry individuals	7q22.1	FBXL13	rs17135875-C	0.01	3E-6	(SBP, Time 0)	4.81	[2.81-6.81] mmHg decrease	Affymetrix [2216774] (imputed)	N
1367	chr7	102519030	102519031	rs17135875	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (cold pressor test)	1,881 Han Chinese ancestry individuals	698 Han Chinese ancestry individuals	7q22.1	FBXL13	rs17135875-C	0.01	1E-6	(DBP, Time 0)	2.81	[1.67-3.95] mmHg decrease	Affymetrix [2216774] (imputed)	N
1372	chr7	103175443	103175444	rs1008126	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	7q22.1	RELN	rs1008126-C		8E-6		0.09	[0.05-0.14] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1373	chr7	103404814	103404815	rs7341475	18282107	Shifman S	2008-02-15	PLoS Genet	Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women.	Schizophrenia	660 Ashkenazi Jewish cases, 2,271 Ashkenazi Jewish controls	1,859 European ancestry cases, 3,943 European ancestry controls, 759 Ashkenazi Jewish cases, 3,389 Ashkenazi Jewish controls, 415 Han Chinese ancestry cases, 458 Han Chinese ancestry controls	7q22.1	RELN	rs7341475-G	0.62	9E-7		1.58	[1.31-1.89]	Affymetrix [510552]	N
1374	chr7	103527368	103527369	rs3914132	19230858	Schrauwen I	2009-02-18	Am J Hum Genet	A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.	Otosclerosis	302 cases, 302 controls	847 cases, 872 controls	7q22.1	RELN	rs3914132-?	0.23	2E-8		1.54	[1.32-1.79]	Illumina [~ 555000]	N
1375	chr7	103625876	103625877	rs4298437	20452100	Kramer PL	2010-05-06	Neurobiol Aging	Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study.	Alzheimer's disease	185 European ancestry low NFT individuals, 114 European ancestry high NFT individuals	NA	7q22.1	RELN	rs4298437-A	0.26	2E-6				Illumina [292175]	N
1375	chr7	103628035	103628036	rs17157903	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (age of onset)	978 European ancestry cases, 883 European ancestry controls	NA	7q22.1	RELN	rs17157903-?	0.14	3E-6			[NR]	Illumina [551642]	N
1379	chr7	104083701	104083702	rs36109662	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q22.2	NR	rs36109662-G	NR	4E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1381	chr7	104420059	104420060	rs4460308	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	7q22.2	LHFPL3	rs4460308-C	0.36	6E-6	(Age 8)	0.11	[0.051-0.169] unit increase	Illumina [2293137] (imputed)	N
1382	chr7	104466963	104466964	rs4073894	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	7q22.2	intergenic	rs4073894-A	0.202	9E-6		0.024	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1382	chr7	104466963	104466964	rs4073894	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 101,069 European ancestry individuals	25,490 European ancestry individuals	7q22.2	LHFPL3	rs4073894-A	0.207	6E-6	(College)	1.062	[NR]	Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)	N
1382	chr7	104503812	104503813	rs10953454	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	7q22.2	LHFPL3	rs10953454-?	NR	7E-7	(HIP)			Illumina [~ 550000]	N
1384	chr7	104758249	104758250	rs6968355	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		7q22.3	SRPK2	rs6968355-?	0.174	2E-7			[NR]	Affymetrix, Illumina [152234]	N
1385	chr7	104929063	104929064	rs6466055	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q22.3	NR	rs6466055-A	NR	1E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
1385	chr7	104929063	104929064	rs6466055	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	7q22.3	MLL5, PUS7, SRPK2	rs6466055-A	0.332	1E-9		1.068	[1.046-1.091]	Affymetrix, Illumina [9005918] (imputed)	N
1387	chr7	105166852	105166853	rs6963495	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	7q22.3	NR	rs6963495-?	NR	5E-6				NR [up to 8466825] (imputed)	N
1387	chr7	105222450	105222451	rs116979167	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	7q22.3	NR	rs116979167-?	NR	5E-6				NR [up to 8466825] (imputed)	N
1388	chr7	105273719	105273720	rs10242311	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	7q22.3	ATXN7L1	rs10242311-?	NR	6E-7	(DMFS5mand)			Illumina [518997]	N
1388	chr7	105281187	105281188	rs11983798	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	7q22.3	ATXN7L1	rs11983798-T	0.08	1E-6				Affymetrix [614963]	N
1388	chr7	105310592	105310593	rs12540205	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q22.3	NR	rs12540205-C	NR	5E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1390	chr7	105542579	105542580	rs13438712	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q22.3	ATXN7L1	rs13438712-G	0.2	8E-6	(Total energy expenditure )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1390	chr7	105542579	105542580	rs13438712	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q22.3	ATXN7L1	rs13438712-G	0.2	2E-6	(Arm span )	0.03	[NR] cm increase	Illumina [899892]	N
1391	chr7	105658450	105658451	rs6967330	24241537	Bonnelykke K	2013-11-17	Nat Genet	A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.	Asthma (childhood onset)	1,173 European ancestry cases, 2,511 European ancestry controls	395 European ancestry cases, 2,663 European ancestry controls, 63 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry cases, 917 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry controls, 6,783 cases, 7,720 controls	7q22.3	CDHR3	rs6967330-A	0.19	3E-14		1.26	[1.18-1.33]	Affymetrix, Illumina [124514]	N
1391	chr7	105671266	105671267	rs10270308	20833655	Cha PC	2010-09-10	Hum Mol Genet	Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese.	Warfarin maintenance dose	807 Japanese ancestry low dose individuals, 701 Japanese ancestry high dose individuals	444 Japanese ancestry individuals	7q22.3	NR	rs10270308-?	NR	6E-6				Illumina [485227]	N
1396	chr7	106359215	106359216	rs342275	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	7q22.3	FLJ36031, PIK3CG	rs342275-C	NR	6E-25		3.742	[3.03-4.45] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1396	chr7	106372218	106372219	rs342293	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	7q22.3	FLJ36031, PIK3CG	rs342293-C	0.56	5E-22		0.15	[NR] unit decrease	Illumina [476395]	N
1396	chr7	106372218	106372219	rs342293	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	7q22.3	PIK3CG	rs342293-C	0.386	2E-8	(Platelet Count)	4.05	[2.64-5.46] 10^L decrease	Affymetrix, Illumina [~ 2200000] (imputed)	N
1396	chr7	106372218	106372219	rs342293	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	7q22.3	FLJ36031, PIK3CG	rs342293-G	NR	7E-57		0.017	[0.015-0.019] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1396	chr7	106372218	106372219	rs342293	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	7q22.3	PIK3CG	rs342293-G	NR	2E-33		0.02	[0.013-0.017] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1396	chr7	106372218	106372219	rs342293	19221038	Soranzo N	2009-02-12	Blood	A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function.	Mean platelet volume	1,221 individuals	7,365 individuals	7q22.3	intergenic	rs342293-G	0.45	1E-24		0.02	[0.014-0.018] log fl increase	Affymetrix [361352]	N
1396	chr7	106372902	106372903	rs342296	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	7q22.3	PIK3CG	rs342296-G	0.372	1E-11	(Mean Platelet Volume)	0.16	[0.12-0.2] fL increase	Affymetrix, Illumina [~ 2200000] (imputed)	N
1396	chr7	106409451	106409452	rs17398575	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	7q22.3	PIK3CG	rs17398575-A	0.25	3E-6	(cIMT)	0.0067	[0.01-0.01] per unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1396	chr7	106409451	106409452	rs17398575	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	7q22.3	PIK3CG	rs17398575-A	0.25	2E-12	(Plaque)	0.1619	[0.11-0.21] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1396	chr7	106411857	106411858	rs17477177	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	7q22.3	PIK3CG	rs17477177-T	0.72	2E-13	(Pulse Pressure)	0.418	[0.31-0.53] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1397	chr7	106495808	106495809	rs17153527	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	7q22.3	NR	rs17153527-?	NR	4E-7		0.51	[0.31-0.71] years increase	Illumina [315418]	N
1398	chr7	106594884	106594885	rs7779057	23151678	Takata R	2012-11-15	J Hum Genet	Impact of four loci on serum tamsulosin hydrochloride concentration.	Serum tamsulosin hydrochloride concentration	182 Japanese ancestry individuals	NA	7q22.3	intergenic	rs7779057-C	0.02	2E-7		17.16	[10.93-23.39] unit increase	Illumina [481678]	N
1398	chr7	106662082	106662083	rs7798500	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	7q22.3	PRKAR2B	rs7798500-?	NR	6E-6	(PHT)			Illumina [NR]	N
1399	chr7	106763217	106763218	rs13224682	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	7q22.3	PRKAR2B	rs13224682-?	0.072	6E-8	(clozapine-triglycerides)			Affymetrix [492900]	N
1399	chr7	106782682	106782683	rs3752645	24662972	Figueroa JD	2014-03-24	Carcinogenesis	Genome-wide interaction study of smoking and bladder cancer risk.	Bladder cancer (smoking interaction)	560 European ancestry never smoker cases, 2,442 European ancestry ever smoker cases, 1,406 European ancestry never smoker controls, 3,005 European ancestry ever smoker controls	494 European ancestry never smoker cases, 1,927 European ancestry ever smoker cases, 2,257 European ancestry never smoker controls, 3,490 European ancestry ever smoker controls	7q22.3	PRKAR2B	rs3752645-?	NR	6E-6	(multiplicative, prospective analysis)			Illumina [491011]	N
1400	chr7	106938419	106938420	rs3815148	20112360	Kerkhof HJ	2010-01-07	Arthritis Rheum	A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22.	Osteoarthritis	1,341 European ancestry cases, 3,496 European ancestry controls	9,779 European ancestry cases, up to 31,818 European ancestry controls, 3,818 cases, 7,278 controls	7q22.3	COG5	rs3815148-C	0.23	8E-8		1.14	[1.09-1.19]	Illumina [500510]	N
1402	chr7	107207694	107207695	rs4730250	21068099	Evangelou E	2010-11-10	Ann Rheum Dis	Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.	Osteoarthritis	2,371 European ancestry cases, 35,909 European ancestry controls	4,338 European ancestry cases, 8,530 European ancestry controls, 1,183 East Asian ancestry cases, 1,245 East Asian ancestry controls	7q22.3	DUS4L	rs4730250-G	0.17 (European)	6E-8		1.15	[1.10-1.22]	Affymetrix, Illumina [2335627] (imputed)	N
1403	chr7	107244544	107244545	rs10953541	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	7q22.3	intergenic	rs10953541-C	0.80	3E-8		1.08	[1.05-1.11]	Illumina [574919]	N
1403	chr7	107292662	107292663	rs2395909	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	7q22.3	NR	rs2395909-?	NR	2E-6	(Latino)	0.2462	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1403	chr7	107336057	107336058	rs2188561	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		7q22.3	SLC26A4	rs2188561-?	0.21	9E-6		0.08	[0.041-0.119] unit decrease	Illumina [4058415] (imputed)	N
1404	chr7	107443385	107443386	rs4730268	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs4730268-C	0.783243083222074	5E-6	(IGP48)	0.1679	[0.096-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
1404	chr7	107453102	107453103	rs2108225	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	7q31.1	SLC26A3	rs2108225-A	0.65	1E-7		1.32	[1.19-1.47]	Illumina [513923]	N
1405	chr7	107479518	107479519	rs4730273	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	7q31.1	intergenic	rs4730273-?	0.70	5E-6		1.22		Illumina [280748]	N
1405	chr7	107480125	107480126	rs6466198	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q31.1	NR	rs6466198-?	NR	2E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1405	chr7	107480125	107480126	rs6466198	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q31.1	NR	rs6466198-?	NR	1E-18	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1405	chr7	107480314	107480315	rs4380874	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q31.1	NR	rs4380874-A	0.4093	6E-25	(EA)	1.1398237	[1.11-1.16]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1405	chr7	107480314	107480315	rs4380874	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q31.1	NR	rs4380874-A	0.4093	2E-15	(EA)	1.0839795	[1.06-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1405	chr7	107480314	107480315	rs4380874	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	7q31.1	DLD	rs4380874-T	0.405	2E-26		1.137	[1.097-1.177]	Affymetrix, Illumina [1230000] (imputed)	N
1405	chr7	107484436	107484437	rs4730276	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	7q31.1	DLD, SLC26A3, LAMB1	rs4730276-?	0.39	9E-6		1.22		Illumina [280748]	N
1405	chr7	107492788	107492789	rs4510766	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	7q31.1	intergenic	rs4510766-A	0.56	2E-16		1.2	[1.15-1.26]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1405	chr7	107495433	107495434	rs886774	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	7q31.1	LAMB1	rs886774-G	0.41	3E-8		1.11	[1.03-1.19]	Affymetrix [NR]	N
1405	chr7	107503440	107503441	rs4598195	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	7q31.1	LAMB1, DLD	rs4598195-A	NR	8E-8		1.11	[NR]	Illumina [266047]	N
1405	chr7	107503440	107503441	rs4598195	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	7q31.1	DLD, SLC26A3, LAMB1	rs4598195-?	0.54	1E-6		1.23		Illumina [280748]	N
1405	chr7	107580838	107580839	rs2158836	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	7q31.1	DLD, SLC26A3, LAMB1	rs2158836-A	0.35	7E-6		1.21		Illumina [280748]	N
1405	chr7	107592197	107592198	rs2072209	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	LAMB1	rs2072209-G	0.0584063163538874	2E-6	(IGP74)	0.3125	[0.18-0.44] unit decrease	Illumina [~ 2500000] (imputed)	N
1405	chr7	107592197	107592198	rs2072209	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	LAMB1	rs2072209-G	0.0582759937583593	2E-7	(IGP75)	0.3382	[0.21-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
1405	chr7	107592197	107592198	rs2072209	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	LAMB1	rs2072209-G	0.0582759206419973	1E-8	(IGP69)	0.3742	[0.25-0.5] unit decrease	Illumina [~ 2500000] (imputed)	N
1405	chr7	107592197	107592198	rs2072209	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	LAMB1	rs2072209-G	0.0581724966622163	8E-6	(IGP76)	0.2906	[0.16-0.42] unit increase	Illumina [~ 2500000] (imputed)	N
1406	chr7	107643976	107643977	rs4320486	24986923	Chu M	2014-07-01	Hum Mol Genet	A genome-wide association study identifies susceptibility loci of silica related pneumoconiosis in Han Chinese.	Pneumoconiosis in silica exposure	202 Han Chinese ancestry cases, 198 Han Chinese ancestry controls	490 Han Chinese ancestry cases, 541 Han Chinese ancestry controls	7q31.1	LAMB1	rs4320486-C	0.755	4E-6		1.69	[1.35-2.13]	Illumina [710999] (imputed)	N
1407	chr7	107782199	107782200	rs382140	21876539	Amin N	2011-08-30	Mol Psychiatry	Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.	Coffee consumption	18,176 European ancestry individuals	7,929 European ancestry individuals	7q31.1	LAMB4, NRCAM	rs382140-A	NR	4E-9		0.079	[0.05-0.11] unit increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1407	chr7	107855562	107855563	rs186314186	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	7q31.1	NRCAM	rs186314186-C	0.01	1E-7	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1408	chr7	107973296	107973297	rs6975557	23593202	Ran S	2013-04-04	PLoS One	Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche.	Femoral neck bone geometry and menarche (age at onset)	1,728 European ancestry individuals	501 European ancestry individuals, 826 Chinese ancestry individuals	7q31.1	NRCAM	rs6975557-?	NR	5E-8	(AAM-W, EA)			Affymetrix [760794]	N
1413	chr7	108544460	108544461	rs1404697	22006218	Yoon D	2011-10-18	Hum Genet	Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.	Smoking behavior	8,842 Korean ancestry individuals	1,366 African American individuals, 671 European ancestry individuals	7q31.1	intergenic	rs1404697-?	NR	8E-6	(Heaviness of Smoking Index)			Affymetrix [352228]	N
1413	chr7	108544460	108544461	rs1404697	22006218	Yoon D	2011-10-18	Hum Genet	Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.	Smoking behavior	8,842 Korean ancestry individuals	1,366 African American individuals, 671 European ancestry individuals	7q31.1	intergenic	rs1404697-?	NR	5E-6	(Fagerstrom test for nicotine dependence)			Affymetrix [352228]	N
1413	chr7	108548659	108548660	rs848353	22006218	Yoon D	2011-10-18	Hum Genet	Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.	Smoking behavior	8,842 Korean ancestry individuals	1,366 African American individuals, 671 European ancestry individuals	7q31.1	PNPLA8, THAP5, DNAJB9, C7orf66, LOC154907	rs848353-?	NR	9E-7	(Heaviness of Smoking Index)			Affymetrix [352228]	N
1413	chr7	108548659	108548660	rs848353	22006218	Yoon D	2011-10-18	Hum Genet	Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.	Smoking behavior	8,842 Korean ancestry individuals	1,366 African American individuals, 671 European ancestry individuals	7q31.1	PNPLA8, THAP5, DNAJB9, C7orf66, LOC154907	rs848353-?	NR	3E-7	(Fagerstrom test for nicotine dependence)			Affymetrix [352228]	N
1413	chr7	108548659	108548660	rs848353	22006218	Yoon D	2011-10-18	Hum Genet	Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.	Smoking behavior	8,842 Korean ancestry individuals	1,366 African American individuals, 671 European ancestry individuals	7q31.1	PNPLA8, THAP5, DNAJB9, C7orf66, LOC154907	rs848353-?	NR	2E-6	(Cigarettes smoked per day)			Affymetrix [352228]	N
1416	chr7	109003573	109003574	rs10277209	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	7q31.1	C7orf66	rs10277209-?	NR	4E-6	(rs1859962)	1.36	[1.19-1.55]	Affymetrix, Illumina [1117531] (imputed)	N
1417	chr7	109152710	109152711	rs10953615	22318345	Cha PC	2012-02-09	J Hum Genet	A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.	Gallbladder cancer	41 Japanese ancestry cases, 866 Japanese ancestry controls	30 Japanese ancestry cases, 898 Japanese ancestry controls	7q31.1	NR	rs10953615-C	0.11	9E-6		7.51	[3.08-18.30]	Illumina [425706] (imputed)	N
1419	chr7	109341951	109341952	rs2692877	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q31.1	NR	rs2692877-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1422	chr7	109782570	109782571	rs59406683	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	7q31.1	RPL3P8, IMMP2L	rs59406683-A	0.89	6E-6		1.2048193	[1.11-1.3]	NR [NR]	N
1424	chr7	110047470	110047471	rs6968385	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	7q31.1	intergenic	rs6968385-T	NR	2E-6	(earlier onset)			Perlegen [429981]	N
1424	chr7	110047963	110047964	rs4730430	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	7q31.1	intergenic	rs4730430-T		3E-6	(Modelling analysis)	1.06	[1.03-1.08]	NR [1252901] (imputed)	N
1424	chr7	110048892	110048893	rs211829	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q31.1	NR	rs211829-T	NR	7E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1424	chr7	110048892	110048893	rs211829	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	7q31.1	IMMP2L	rs211829-T	0.628	4E-8		1.061	[1.039-1.083]	Affymetrix, Illumina [9005918] (imputed)	N
1426	chr7	110340973	110340974	rs17157913	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q31.1	NR	rs17157913-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1427	chr7	110467220	110467221	rs10279573	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	7q31.1	IMMP2L	rs10279573-?	0.1446	3E-6	(IED)			Illumina [475971]	N
1430	chr7	110775398	110775399	rs73201076	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q31.1	NR	rs73201076-C	NR	1E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1431	chr7	110898914	110898915	rs13240464	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q31.1	NR	rs13240464-T	NR	3E-13		1.08	[NR]	Illumina [7158791] (imputed)	N
1431	chr7	110898914	110898915	rs13240464	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	7q31.1	IMMP2L	rs13240464-T	0.647	3E-13		1.083	[1.060-1.106]	Affymetrix, Illumina [9005918] (imputed)	N
1435	chr7	111451658	111451659	rs2074114	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q31.1	NR	rs2074114-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1435	chr7	111511137	111511138	rs17158930	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of antidepressant drugs in severe mental disorder (concentration dose ratio)	Up to 320 European ancestry cases	NA	7q31.1	intergenic	rs17158930-G	0.193	3E-7		0.3082	[NR] unit decrease	Affymetrix [686595]	N
1435	chr7	111527559	111527560	rs10255299	22788528	Kong M	2012-07-13	Int J Immunogenet	Genetic associations with C-reactive protein level and white blood cell count in the KARE study.	C-reactive protein and white blood cell count	8,722 individuals	NA	7q31.1	DOCK4	rs10255299-G	0.013	7E-11	(CRP)	0.241	[NR] mg/dl increase	Affymetrix [1701735] (imputed)	N
1436	chr7	111642645	111642646	rs61159171	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	7q31.1	ZNF277	rs61159171-T	0.348	6E-6		0.075	[0.042-0.108] cup size decrease	Illumina [7422970] (imputed)	N
1437	chr7	111677905	111677906	rs10428959	22890011	Frazier-Wood AC	2012-08-09	Pharmacogenet Genomics	Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.	Response to fenofibrate	817 European ancestry individuals	NA	7q31.1	DOCK4	rs10428959-T	NR	1E-7	(VLDL diameter)	6.0	[3.79-8.21] unit increase	Affymetrix [~ 2543887] (imputed)	N
1437	chr7	111698107	111698108	rs634010	25378290	McQueen MB	2014-11-07	Behav Genet	The National Longitudinal Study of Adolescent to Adult Health (Add Health) Sibling Pairs Genome-Wide Data.	Body mass index (change over time)	917 European ancestry individuals, 677 African American individuals, 209 Hispanic individuals, 73 Asian ancestry individuals, 8 Native American ancestry individuals, 2 individuals	NA	7q31.1	DOCK4	rs634010-T	0.24	5E-6		1.04	[0.59-1.48] unit increase	Illumina [717411]	N
1440	chr7	112086332	112086333	rs17159640	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	7q31.1	IFRD1	rs17159640-T	0.048	9E-6	(EA)	1.59	[0.94-2.68]	Affymetrix [up to 2366858] (imputed)	N
1440	chr7	112094742	112094743	rs6956741	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	7q31.1	IFRD1	rs6956741-G	0.06	2E-6	(Meta)			Illumina [254145]	N
1440	chr7	112159177	112159178	rs5009270	23989986	Evangelou E	2013-08-29	Ann Rheum Dis	A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.	Osteoarthritis (hip)	up to 4,734 European ancestry cases, up to 46,903 European ancestry controls	up to 6,928 European ancestry cases, up to 20,570 European ancestry controls	7q31.1	IFRD1	rs5009270-A	0.3	3E-6		1.1	[1.06-1.14]	Illumina [2567279] (imputed)	N
1444	chr7	112628372	112628373	rs10229603	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	7q31.1	FLJ31818, GPR85	rs10229603-C	0.31	5E-6				Perlegen [378332]	N
1444	chr7	112649413	112649414	rs6969802	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs6969802-G	0.0792205338110166	5E-6	(IGP11)	0.2608	[0.15-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
1444	chr7	112649413	112649414	rs6969802	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs6969802-G	0.0788437633348274	3E-6	(IGP51)	0.2669	[0.16-0.38] unit decrease	Illumina [~ 2500000] (imputed)	N
1445	chr7	112722195	112722196	rs2255811	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	7q31.1	GPR85	rs2255811-G	0.25	2E-8		0.041	[0.027-0.055] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1446	chr7	112911409	112911410	rs10953730	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	7q31.1	intergenic	rs10953730-?	0.35	2E-7	(acylcarnitine)			Affymetrix [187454]	N
1452	chr7	113741104	113741105	rs6466479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs6466479-G	0.122643248331108	7E-6	(IGP54)	0.2166	[0.12-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
1452	chr7	113741104	113741105	rs6466479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs6466479-G	0.122643248331108	6E-6	(IGP43)	0.2172	[0.12-0.31] unit decrease	Illumina [~ 2500000] (imputed)	N
1452	chr7	113741104	113741105	rs6466479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs6466479-G	0.122643248331108	5E-7	(IGP17)	0.2414	[0.15-0.34] unit increase	Illumina [~ 2500000] (imputed)	N
1452	chr7	113741104	113741105	rs6466479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs6466479-G	0.122643248331108	4E-6	(IGP53)	0.2224	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
1452	chr7	113741104	113741105	rs6466479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs6466479-G	0.122643248331108	2E-6	(IGP57)	0.2271	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
1452	chr7	113741104	113741105	rs6466479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs6466479-G	0.122476576224399	3E-6	(IGP3)	0.2229	[0.13-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
1452	chr7	113741104	113741105	rs6466479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q31.1	NR	rs6466479-G	0.12247588824577	2E-6	(IGP26)	0.23	[0.14-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
1454	chr7	113998245	113998246	rs12705959	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	7q31.1	FOXP2, PPP1R3A	rs12705959-?	NR	3E-7	(SBP,CPD)			Affymetrix [2485435] (imputed)	N
1454	chr7	113998245	113998246	rs12705959	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	7q31.1	FOXP2, PPP1R3A	rs12705959-?	NR	3E-6	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1457	chr7	114322123	114322124	rs13226763	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	7q31.1	FOXP2	rs13226763-C	0.55	7E-6	(women)	0.095	[0.054-0.136] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1457	chr7	114334956	114334957	rs12705981	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q31.1	FOXP2	rs12705981-C	0.458	5E-6	(EA, women)	0.021	[0.012-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1457	chr7	114357542	114357543	rs1869839	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	7q31.1	FOXP2	rs1869839-?	0.64	7E-6		1.2	[1.11-1.3]	Illumina [508934]	N
1459	chr7	114596840	114596841	rs2709505	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	7q31.1	MDFIC	rs2709505-?	NR	1E-8	(30x)			NR [2092490]	N
1459	chr7	114629284	114629285	rs7784447	23818313	Kim HJ	2012-11-06	Obesity (Silver Spring)	Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.	Obesity	756 Mongolian ancestry individuals from 55 families	1,301 Korean ancestry individuals	7q31.1	MDFIC	rs7784447-A	0.11	4E-6	(BMI)			Illumina [567072]	N
1461	chr7	114914607	114914608	rs10274759	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q31.2	NR	rs10274759-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1463	chr7	115138007	115138008	rs1918526	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking cessation	366 Bangladeshi ancestry former smoker males, 87 Bangladeshi ancestry former smoker females, 1,471 Bangladeshi ancestry current smoker males, 111 Bangladeshi ancestry current smoker females	NA	7q31.2	NR	rs1918526-?		7E-6				Illumina [1211988] (imputed)	N
1471	chr7	116150094	116150095	rs10258482	25173106	Hysi PG	2014-08-31	Nat Genet	Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.	Intraocular pressure	7,738 Asian ancestry individuals, 27,558 European ancestry individuals	NA	7q31.2	CAV1, CAV2	rs10258482-A	NR	2E-11		0.196	[0.14-0.25] mm Hg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1471	chr7	116162728	116162729	rs4236601	25173105	Gharahkhani P	2014-08-31	Nat Genet	Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,155 European ancestry cases, 1,922 European ancestry controls	3,548 European ancestry cases, 9,496 European ancestry controls	7q31.2	CAV1, CAV2	rs4236601-A	NR	5E-7		1.2	[1.12-1.28]	Illumina [7594768] (imputed)	N
1471	chr7	116162728	116162729	rs4236601	20835238	Thorleifsson G	2010-09-12	Nat Genet	Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,263 European ancestry cases, 34,887 European ancestry controls	2,175 European ancestry cases, 2,064 European ancestry controls	7q31.2	CAV1, CAV2	rs4236601-A	0.23	2E-11		1.27	[1.18-1.36]	Illumina [303117]	N
1471	chr7	116186240	116186241	rs3807989	25055868	Sano M	2014-07-23	Hum Mol Genet	Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.	Electrocardiographic traits	2,994 Japnese ancestry individuals	6,805 Korean ancestry individuals	7q31.2	CAV1	rs3807989-A	0.337	2E-6	(PR)	2.423	[NR] unit increase	Illumina [~ 2500000]	N
1471	chr7	116186240	116186241	rs3807989	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	PR segment	16,468 European ancestry individuals	NA	7q31.2	CAV1, MET	rs3807989-A	0.435	5E-12		1.396	[1.00-1.79] unit increase	Illumina [2300000] (imputed)	N
1471	chr7	116186240	116186241	rs3807989	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	7q31.2	CAV1	rs3807989-G	0.60	4E-12		1.11	[1.09-1.15]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1471	chr7	116186240	116186241	rs3807989	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	7q31.2	CAV1	rs3807989-A	0.40	7E-13	(PR interval)	6.4	[4.65-8.15] % s.d. increase	Illumina [306060]	N
1471	chr7	116186240	116186241	rs3807989	20062060	Pfeufer A	2010-01-10	Nat Genet	Genome-wide association study of PR interval.	PR interval	28,517 European ancestry individuals	NA	7q31.2	CAV1, CAV2	rs3807989-A	0.40	4E-28		2.3	[1.89-2.71] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1471	chr7	116191300	116191301	rs11773845	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	PR interval	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	7q31.2	CAV1, CAV2	rs11773845-C	0.34	3E-14		3.21	[2.39-4.03] unit increase	Affymetrix [2100000] (imputed)	N
1471	chr7	116191300	116191301	rs11773845	23139255	Butler AM	2012-11-08	Circ Cardiovasc Genet	Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.	PR interval	13,415 African American individuals	NA	7q31.2	CAV1	rs11773845-A	0.36	4E-12		2.29	[1.64-2.94] unit decrease	Affymetrix, Illumina [2845108] (imputed)	N
1471	chr7	116200091	116200092	rs9920	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	7q31.2	CAV1	rs9920-C	0.093	3E-8		0.79	[0.52-1.06] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1471	chr7	116205913	116205914	rs7802124	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q31.2	NR	rs7802124-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1472	chr7	116346602	116346603	rs10243024	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	7q31.2	MET	rs10243024-?	0.23	6E-6			[NR]	Illumina [551642]	N
1472	chr7	116358043	116358044	rs38855	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	7q31.2	MET	rs38855-G	0.47	2E-8		0.019	[NR] mg/dL decrease	NR [NR] (imputed)	N
1474	chr7	116577123	116577124	rs7782376	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	7q31.2	AC106873.3	rs7782376-?	NR	8E-6	(Digit Span Forward)			Illumina [up to 563855]	N
1476	chr7	116892845	116892846	rs38904	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	7q31.2	intergenic	rs38904-T	0.532	1E-8		1.054	[1.025-1.085]	Affymetrix, Illumina [1230000] (imputed)	N
1476	chr7	116895162	116895163	rs38911	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q31.2	NR	rs38911-G	0.54	6E-6	(EA)	1.0574577		Affymetrix, Illumina [~ 9000000] (imputed)	N
1477	chr7	116917117	116917118	rs4730775	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	7q31.2	WNT2	rs4730775-?	0.59	3E-8		1.2	[1.14-1.30]	Illumina [234939]	N
1477	chr7	116939286	116939287	rs114167782	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7q31.2	NR	rs114167782-?	NR	2E-7	(Native Hawaiian)	1.2727	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1477	chr7	117023534	117023535	rs4730779	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist circumference	Up to 23,564 African American individuals	Up to 10,027 African American individuals	7q31.2	ASZ1	rs4730779-A	0.86	4E-6	(BMI_men)	0.1	[0.061-0.139] unit increase	Affymetrix, Illumina [3200000] (imputed)	N
1478	chr7	117067821	117067822	rs7808424	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	7q31.2	intergenic	rs7808424-G	0.12	1E-6		1.1	[1.06-1.14]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1480	chr7	117377644	117377645	rs757278	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	7q31.31	LSM8, CFTR, CTTNBP2	rs757278-T	NR	5E-7	(ParVAS)	1.32	[0.81-1.83] unit increase	Illumina [586062]	N
1481	chr7	117459042	117459043	rs7800668	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	7q31.31	LSM8, CFTR, CTTNBP2	rs7800668-C	NR	6E-6	(ACR-pedi)	1.34	[0.75-1.93] unit decrease	Illumina [586062]	N
1485	chr7	117991894	117991895	rs41997	22872573	Hu L	2012-08-07	Clin Cancer Res	Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.	Response to platinum-based chemotherapy in non-small-cell lung cancer	528 Han Chinese ancestry cases	340 Han Chinese ancestry cases, 409 European ancestry cases	7q31.31	CFTR, ST7, WNT2	rs41997-A	NR	4E-7	(Han Chinese)	1.52	[1.28-1.79]	NR [576351]	N
1486	chr7	118159548	118159549	rs2106595	23049750	Kumasaka N	2012-09-25	PLoS One	Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population.	Smoking behavior	11,696 Japanese ancestry smokers	5,462 Japanese ancestry smokers	7q31.31	NR	rs2106595-G	NR	5E-6		0.88	[0.51-1.25] unit increase	Illumina [2312503] (imputed)	N
1497	chr7	119606631	119606632	rs17142462	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	7q31.31	KCND2	rs17142462-A		3E-9	(EA)			Illumina [NR]	N
1502	chr7	120305148	120305149	rs728115	22488850	Zuo L	2012-04-04	Am J Med Genet B Neuropsychiatr Genet	Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls, 449 African American cases, 480 African American controls	NA	7q31.31	KCND2	rs728115-?	NR	4E-6				Illumina [805814]	N
1506	chr7	120747307	120747308	rs13223036	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	7q31.31	FAM3C, WNT16, CPED1	rs13223036-T	NR	3E-22	(EA)	0.1652	[0.13-0.2] unit increase	Illumina [~ 2500000] (imputed)	N
1506	chr7	120747307	120747308	rs13223036	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	7q31.31	FAM3C, WNT16, CPED1	rs13223036-T	0.64	2E-28		0.169	[0.14-0.2] unit increase	Illumina [~ 2500000] (imputed)	N
1506	chr7	120758898	120758899	rs798943	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	7q31.31	FAM3C, CPED1, WNT16	rs798943-G	NR	3E-32	(EA)	0.2016	[0.17-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
1506	chr7	120758898	120758899	rs798943	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	7q31.31	FAM3C, CPED1, WNT16	rs798943-G	0.61	1E-37		0.195	[0.17-0.22] unit increase	Illumina [~ 2500000] (imputed)	N
1506	chr7	120785063	120785064	rs13245690	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	7q31.31	C7orf58	rs13245690-A	0.65	2E-11	(LSBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1506	chr7	120843515	120843516	rs7797976	26041818	Chesi A	2015-06-03	Hum Mol Genet	A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.	Pediatric bone mineral content (radius)	178 African American females, 159 African American males, 474 European ancestry females, 434 European ancestry males, 54 Hispanic and other ancestry females, 72 Hispanic and other ancestry males	242 European ancestry females, 239 European ancestry males	7q31.31	CPED1, WNT16, FAM3C	rs7797976-T		3E-8				Illumina [7238679] (imputed)	N
1506	chr7	120843515	120843516	rs7797976	26041818	Chesi A	2015-06-03	Hum Mol Genet	A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.	Pediatric bone mineral content (radius)	178 African American females, 159 African American males, 474 European ancestry females, 434 European ancestry males, 54 Hispanic and other ancestry females, 72 Hispanic and other ancestry males	242 European ancestry females, 239 European ancestry males	7q31.31	CPED1	rs7797976-T	0.358	6E-7	(females)	0.21	[0.13-0.29] Z score decrease	Illumina [7238679] (imputed)	N
1506	chr7	120843515	120843516	rs7797976	26041818	Chesi A	2015-06-03	Hum Mol Genet	A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.	Pediatric areal bone mineral density (radius)	178 African American females, 159 African American males, 474 European ancestry females, 434 European ancestry males, 54 Hispanic and other ancestry females, 72 Hispanic and other ancestry males	242 European ancestry females, 239 European ancestry males	7q31.31	CPED1	rs7797976-T	0.358	2E-11	(females)	0.298	[0.21-0.38] Z score decrease	Illumina [7238679] (imputed)	N
1506	chr7	120843515	120843516	rs7797976	26041818	Chesi A	2015-06-03	Hum Mol Genet	A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.	Pediatric areal bone mineral density (radius)	178 African American females, 159 African American males, 474 European ancestry females, 434 European ancestry males, 54 Hispanic and other ancestry females, 72 Hispanic and other ancestry males	242 European ancestry females, 239 European ancestry males	7q31.31	CPED1	rs7797976-T		3E-10				Illumina [7238679] (imputed)	N
1507	chr7	120903814	120903815	rs4609139	22792070	Medina-Gomez C	2012-07-05	PLoS Genet	Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.	Bone mineral density	1,834 European ancestry children, 825 children	11,052 European ancestry individuals	7q31.31	C7orf58	rs4609139-T	0.355	1E-10	(Conditional on rs917727)	0.081	[NR] unit decrease	Illumina [3021329] (imputed)	N
1507	chr7	120962163	120962164	rs2908007	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	730 East Asian ancestry individuals, 2,380 European ancestry individuals, 11,150 individuals	11,058 European ancestry individuals, 2,870 European and other ancestry individuals, 21,439 individuals	7q31.31	WNT16	rs2908007-G	0.40	4E-35	(BUA)	0.14	[0.12-0.16] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
1507	chr7	120962163	120962164	rs2908007	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	4,556 European ancestry individuals	2,236 European ancestry individuals	7q31.31	WNT16	rs2908007-G	0.37	1E-9	(BMD-DXA)	0.14	[0.09-0.18] unit increase	Affymetrix, Illumina [up to 2399195] (imputed)	N
1507	chr7	120962163	120962164	rs2908007	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	7q31.31	WNT16	rs2908007-G	0.41	2E-59	(VOS)	0.15	[0.13-0.17] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
1507	chr7	120969768	120969769	rs2908004	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	7q31.31	FAM3C, WNT16, CPED1	rs2908004-A	NR	1E-9	(EA)	0.1039	[0.07-0.138] unit increase	Illumina [~ 2500000] (imputed)	N
1507	chr7	120969768	120969769	rs2908004	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	7q31.31	FAM3C, WNT16, CPED1	rs2908004-A	0.47	3E-11		0.1	[0.071-0.129] unit increase	Illumina [~ 2500000] (imputed)	N
1507	chr7	120969768	120969769	rs2908004	22792071	Zheng HF	2012-07-05	PLoS Genet	WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.	Bone mineral density	5,672 European ancestry individuals	NA	7q31.31	WNT16	rs2908004-G	0.58	1E-15		0.16	[NR] mg/cm3 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1507	chr7	120974764	120974765	rs3801387	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	7q31.31	WNT16	rs3801387-A	0.74	3E-51	(LSBMD)	0.09	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1507	chr7	120979088	120979089	rs2707466	22792071	Zheng HF	2012-07-05	PLoS Genet	WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.	Cortical thickness	5,878 European ancestry individuals	1,032 European ancestry individuals	7q31.31	WNT16	rs2707466-C	NR	2E-10		0.11	[0.071-0.149] mm decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1508	chr7	120983342	120983343	rs10242100	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	7q31.31	WNT16	rs10242100-?	NR	2E-10	(hip)			Affymetrix, Illumina [5842825] (imputed)	N
1508	chr7	121018578	121018579	rs917727	22792070	Medina-Gomez C	2012-07-05	PLoS Genet	Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.	Bone mineral density	1,834 European ancestry children, 825 children	11,052 European ancestry individuals	7q31.31	WNT16	rs917727-T	0.273	1E-27		0.154	[NR] unit increase	Illumina [3021329] (imputed)	N
1508	chr7	121033120	121033121	rs7776725	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	7q31.31	FAM3C, WNT16, CPED1	rs7776725-C	NR	2E-15	(EA)	0.1582	[0.12-0.2] unit increase	Illumina [~ 2500000] (imputed)	N
1508	chr7	121033120	121033121	rs7776725	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	7q31.31	FAM3C, WNT16, CPED1	rs7776725-C	0.27	6E-20		0.159	[0.13-0.19] unit increase	Illumina [~ 2500000] (imputed)	N
1508	chr7	121033120	121033121	rs7776725	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Biomedical quantitative traits	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	7q31.31	FAM3C	rs7776725-C	0.13	2E-6	(BD-TT)			Affymetrix [2156535] (imputed)	N
1508	chr7	121033120	121033121	rs7776725	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Biomedical quantitative traits	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	7q31.31	FAM3C	rs7776725-C	0.13	1E-11	(BD-RT)			Affymetrix [2156535] (imputed)	N
1510	chr7	121258370	121258371	rs28581422	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	7q31.32	NR	rs28581422-C	NR	9E-6		0.65	[0.36-0.94] unit decrease	NR [5896100] (imputed)	N
1510	chr7	121275228	121275229	rs10253361	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol dependence factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	7q31.32	intergenic	rs10253361-T	0.38	6E-6		0.076	[NR] unit decrease	Illumina [~ 300000]	N
1515	chr7	121950964	121950965	rs7779018	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q31.32	NR	rs7779018-A	NR	10E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
1517	chr7	122160741	122160742	rs11767400	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	7q31.32	CADPS2	rs11767400-A	0.3	4E-11		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1517	chr7	122202592	122202593	rs2429582	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	7q31.32	CADPS2	rs2429582-?	0.34	6E-7				Illumina [448293]	N
1517	chr7	122271314	122271315	rs80261602	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7q31.32	NR	rs80261602-?	NR	1E-6		0.3507	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1518	chr7	122341148	122341149	rs6466832	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q31.32	NR	rs6466832-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
1521	chr7	122759979	122759980	rs4727963	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)	147 Japanese ancestry cases, 233 Japanese ancestry controls	NA	7q31.32	SLC13A1	rs4727963-C	0.618	1E-6	(Dominant model)	2.094	[1.505-2.914]	Illumina [733202]	N
1526	chr7	123376559	123376560	rs9649465	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	7q31.32	intergenic	rs9649465-A	0.45	1E-6		1.06	[1.03-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1526	chr7	123411222	123411223	rs4731120	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	7q31.32	WASL	rs4731120-C	NR	3E-12		4.14	[2.98-5.3] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1533	chr7	124384326	124384327	rs7802263	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	7q31.33	GPR37	rs7802263-?	NR	8E-6				Illumina [~ 2400000] (imputed)	N
1534	chr7	124396644	124396645	rs4731207	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	7q31.33	GPR37, POT1	rs4731207-A	0.5	5E-7		0.079	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
1534	chr7	124436138	124436139	rs28523990	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	7q31.33	intergenic	rs28523990-T	0.282	7E-6	(Ordinal I)	0.2719	[0.15-0.39] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1534	chr7	124462080	124462081	rs727505	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	7q31.33	intergenic	rs727505-A	0.2876	5E-6	(Case/control)	0.2807	[0.25-0.31] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1534	chr7	124462080	124462081	rs727505	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	7q31.33	intergenic	rs727505-A	0.2875	6E-6	(Ordinal II)	0.2777	[0.16-0.4] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1534	chr7	124462660	124462661	rs17246404	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	7q31.33	POT1	rs17246404-C		3E-8		1.22	[1.14-1.31]	Illumina [450000] (imputed)	N
1541	chr7	125391644	125391645	rs1419607	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q31.33	LOC646841	rs1419607-G	0.372	7E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1542	chr7	125460647	125460648	rs7458938	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	7q31.33	NR	rs7458938-A	NR	2E-7	(phenotype 2)	1.96	[NR]	Illumina [> 8000000] (imputed)	N
1545	chr7	125869121	125869122	rs2687481	25060954	Wolber LE	2014-07-24	Hum Mol Genet	Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.	Hearing function	1,022 European ancestry individuals, 280 Carlantino individuals, 1,097 Friuli Venezia Giulia individuals, 804 Korkula individuals, 497 Split individuals, 421 Cilento individuals, 470 Talana individuals, 348 Silk Road individuals	NA	7q31.33	GRM8, LOC646837	rs2687481-G	NR	1E-7	(PC1)			Affymetrix, Illumina [> 2300000] (imputed)	N
1545	chr7	125896747	125896748	rs117982730	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	7q31.33	NR	rs117982730-?	NR	4E-6				NR [up to 8466825] (imputed)	N
1546	chr7	126089318	126089319	rs13240504	25387707	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of antisaccade eye tracking error rate: A genome-wide association study.	Anti-saccade response	4,469 European ancestry twins and their parents	NA	7q31.33	GRM8	rs13240504-?	NR	5E-6		0.032	[0.018-0.046] unit increase	Illumina [527829]	N
1548	chr7	126324590	126324591	rs17691394	20009918	Shrestha S	2010-01-01	AIDS	A genome-wide association study of carotid atherosclerosis in HIV-infected men.	Carotid atherosclerosis in HIV infection	177 European ancestry individuals	NA	7q31.33	GRM8	rs17691394-G	0.20	9E-7	(common cIMT)			Illumina [311194]	N
1549	chr7	126429516	126429517	rs6951643	25918841	Sanchez-Juan P	2015-04-28	PLoS One	A genome wide association study links glutamate receptor pathway to sporadic creutzfeldt-jakob disease risk.	Creutzfeldt-Jakob disease (sporadic)	434 European ancestry cases, 1,939 European ancestry controls	1,109 European ancestry cases, 2,264 European ancestry controls	7q31.33	GRM8	rs6951643-A	0.519	2E-8		1.27	[1.17-1.38]	Affymetrix [279389]	N
1549	chr7	126437896	126437897	rs11971186	20237162	Bozaoglu K	2010-03-17	J Clin Endocrinol Metab	Chemerin, a novel adipokine in the regulation of angiogenesis.	Chemerin levels	858 Mexican American family members and individuals	NA	7q31.33	GRM8	rs11971186-?	NR	9E-6				Illumina [542944]	N
1551	chr7	126639603	126639604	rs17864092	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	7q31.33	GRM8	rs17864092-T	0.90	6E-6		0.17	[NR] unit decrease	Affymetrix, Illumina [up to 2500000] (imputed)	N
1553	chr7	126924703	126924704	rs17869724	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q31.33	NR	rs17869724-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1555	chr7	127147762	127147763	rs6978712	25317111	Seo I	2014-09-30	Genomics Inform	Genome-wide association study of medication adherence in chronic diseases in the korean population.	Medication adherence in chronic diseases	155 Korean ancestry medication non-adherent diabetes cases, 80 Korean ancestry medication non-adherent hypertensive cases, 240 Korean ancestry medication adherent diabetes cases, 827 Korean ancestry medication adherent hypertensive cases	NA	7q32.1	GCC1	rs6978712-A	0.175	5E-7		2.02	[1.53-2.68]	NR [349184]	N
1555	chr7	127164957	127164958	rs6467136	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	7q32.1	PAX4, GCC1	rs6467136-G	0.79	5E-11		1.11	[1.07-1.14]	Affymetrix, Illumina [2626356] (imputed)	N
1555	chr7	127246902	127246903	rs10229583	23532257	Ma RC	2013-03-27	Diabetologia	Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4.	Type 2 diabetes	684 Han Chinese ancestry cases, 955 Han Chinese ancestry controls	18,954 East Asian ancestry cases, 18,029 East Asian ancestry controls, 794 Malay ancestry cases, 1,204 Malay ancestry controls, 977 Indian ancestry cases, 1,169 Indian ancestry controls, 8,130 European ancestry cases, 38,987 European ancestry controls	7q32.1	ARF5, PAX4, SND1	rs10229583-G	0.825	2E-10	(East Asian)	1.14	[1.09-1.19]	Illumina [2925090] (imputed)	N
1560	chr7	127862801	127862802	rs791595	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	7q32.1	MIR129, LEP	rs791595-A	0.08	3E-13		1.17	[1.12-1.22]	Illumina [6209637] (imputed)	N
1560	chr7	127867454	127867455	rs79947808	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q32.1	NR	rs79947808-G	NR	8E-6		1.1363636	[NR]	Illumina [7158791] (imputed)	N
1564	chr7	128415194	128415195	rs1799922	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		7q32.1	CALU, OPN1SW	rs1799922-T	NR	9E-7		0.14	[0.083-0.197] unit decrease	Illumina [2446724] (imputed)	N
1564	chr7	128415194	128415195	rs1799922	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		7q32.1	CALU, OPN1SW	rs1799922-T	NR	4E-9		0.144	[0.097-0.191] unit increase	Illumina [2446724] (imputed)	N
1565	chr7	128503542	128503543	rs1472147	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Calcium levels	5,261 European ancestry children, 3,817 African-American ancestry children		7q32.1	NR	rs1472147-A	NR	7E-6	(AA)	0.0488	[0.028-0.070] mg/dl increase	Illumina [up to 507950]	N
1565	chr7	128568959	128568960	rs729302	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	7q32.1	IRF5	rs729302-A	0.66	1E-9		1.4706		Illumina [2100739] (imputed)	N
1565	chr7	128568959	128568960	rs729302	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	7q32.1	IRF5	rs729302-A	NR	4E-8		1.29	[1.41-1.18]	Illumina [737984]	N
1565	chr7	128573966	128573967	rs4728142	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q32.1	NR	rs4728142-A	0.439	2E-14	(EA)	1.1018242	[1.08-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1565	chr7	128573966	128573967	rs4728142	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q32.1	NR	rs4728142-A	0.439	6E-7	(EA)	1.0520436	[1.03-1.07]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1565	chr7	128573966	128573967	rs4728142	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	7q32.1	IRF5	rs4728142-A	0.46	7E-10		1.454	[1.368-1.55]	Illumina [NR]	N
1565	chr7	128573966	128573967	rs4728142	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	7q32.1	TSPAN33, TNPO3, IRF5	rs4728142-A	0.444	4E-14		1.104	[1.066-1.143]	Affymetrix, Illumina [1230000] (imputed)	N
1565	chr7	128573966	128573967	rs4728142	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	7q32.1	TNPO3, IRF5	rs4728142-A	0.44	2E-8		1.07	[1.03-1.11]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1565	chr7	128573966	128573967	rs4728142	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	7q32.1	IRF5	rs4728142-A	0.13	8E-19		1.43	[1.32-1.54]	Illumina [493955]	N
1565	chr7	128580679	128580680	rs3807306	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	7q32.1	IRF5	rs3807306-?	NR	3E-7	(ACPA-negative RA vs controls)	1.44	[1.25-1.66]	Illumina [1723056] (imputed)	N
1566	chr7	128594182	128594183	rs10488631	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	7q32.1	TNPO3	rs10488631-C	0.11	2E-13		1.829	[1.684-1.99]	Illumina [NR]	N
1566	chr7	128594182	128594183	rs10488631	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	7q32.1	IRF5	rs10488631-?	NR	8E-7	(ATA positive)	1.63	[1.34-1.98]	Illumina [NR] (imputed)	N
1566	chr7	128594182	128594183	rs10488631	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	7q32.1	IRF5	rs10488631-?	NR	2E-7	(ACA positive)	1.52	[1.30-1.79]	Illumina [NR] (imputed)	N
1566	chr7	128594182	128594183	rs10488631	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	7q32.1	IRF5	rs10488631-?	NR	2E-10	(IcSSc)	1.5	[1.32-1.69]	Illumina [NR] (imputed)	N
1566	chr7	128594182	128594183	rs10488631	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	7q32.1	IRF5	rs10488631-?	NR	1E-9	(dcSSc)	1.61	[1.38-1.88]	Illumina [NR] (imputed)	N
1566	chr7	128594182	128594183	rs10488631	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	7q32.1	TNPO3, IRF5	rs10488631-C	0.09	4E-7		1.35	[1.20-1.51]	Illumina [489814]	N
1566	chr7	128594182	128594183	rs10488631	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	7q32.1	IRF5	rs10488631-C	0.11	7E-18	(anti-dsDNA +)	1.92	[1.66-2.22]	Illumina [421318] (imputed)	N
1566	chr7	128594182	128594183	rs10488631	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	7q32.1	TNPO3, IRF5	rs10488631-C	0.11	3E-10		1.63	[NR]	Illumina [276459]	N
1566	chr7	128594182	128594183	rs10488631	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	7q32.1	IRF5	rs10488631-C	0.11	4E-11		1.19	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1566	chr7	128594182	128594183	rs10488631	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	7q32.1	TNPO, IRF5	rs10488631-C	NR	2E-13		1.5	[1.35-1.67]	Illumina [279621]	N
1566	chr7	128594182	128594183	rs10488631	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	7q32.1	IRF5-TNPO3	rs10488631-G	NR	2E-7		1.52	[1.30-1.78]	Illumina [305724]	N
1566	chr7	128594182	128594183	rs10488631	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	7q32.1	TNPO3, IRF5	rs10488631-C	0.12	2E-11				Illumina [502033]	N
1566	chr7	128617465	128617466	rs12531711	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	7q32.1	TNPO3	rs12531711-A	NR	6E-13		1.593	[1.403-1.808]	Illumina [737984]	N
1566	chr7	128617465	128617466	rs12531711	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	7q32.1	IRF5	rs12531711-G	0.11	6E-9	(anti-dsDNA -)	1.58	[1.36-1.83]	Illumina [421318] (imputed)	N
1566	chr7	128617465	128617466	rs12531711	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	7q32.1	IRF5	rs12531711-G	0.11	9E-17		1.58	[1.41-1.76]	Illumina [507467]	N
1566	chr7	128695982	128695983	rs13239597	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	7q32.1	TNPO3, IRF5	rs13239597-?	NR	1E-29		1.664	[NR]	Illumina [NR]	N
1567	chr7	128717905	128717906	rs12537284	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	7q32.1	TNPO3, IRF5	rs12537284-A	0.13	4E-19		1.54	[1.40-1.70]	Illumina [317501]	N
1568	chr7	128886820	128886821	rs6942756	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	7q32.1	AHCYL2	rs6942756-G	0.25	9E-7				Affymetrix, Illumina [14227402] (imputed)	N
1568	chr7	128886820	128886821	rs6942756	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	7q32.1	AHCYL2	rs6942756-G	0.25	8E-7	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1569	chr7	128993755	128993756	rs11979476	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	7q32.1	AHCYL2	rs11979476-?	NR	2E-6	(Tumor necrosis factor-a)			Affymetrix [2543887] (imputed)	N
1569	chr7	129004846	129004847	rs11766298	22890011	Frazier-Wood AC	2012-08-09	Pharmacogenet Genomics	Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.	Response to fenofibrate	817 European ancestry individuals	NA	7q32.1	AHCLY2	rs11766298-T	NR	4E-9	(VLDL diameter)	4.41	[2.96-5.86] unit increase	Affymetrix [~ 2543887] (imputed)	N
1569	chr7	129023596	129023597	rs7787531	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	7q32.1	NR	rs7787531-?	0.29	9E-6		1.22	[1.10-1.30]	Affymetrix [> 333754] (imputed)	N
1571	chr7	129356205	129356206	rs9641855	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q32.2	NRF1	rs9641855-G	0.335	2E-6	(Sleep duration )	0.02	[NR] min/d increase	Illumina [899892]	N
1574	chr7	129663495	129663496	rs11556924	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	7q32.2	ZC3HC1	rs11556924-?		8E-10				Affymetrix, Illumina [up to 2500000] (imputed)	N
1574	chr7	129663495	129663496	rs11556924	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	7q32.2	ZC3HC1	rs11556924-?		9E-10				Affymetrix, Illumina [up to 2500000] (imputed)	N
1574	chr7	129663495	129663496	rs11556924	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	7q32.2	ZC3HC1	rs11556924-T	NR	3E-10		1.0989	[1.06-1.12]	Illumina [575000] (imputed)	N
1574	chr7	129663495	129663496	rs11556924	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	7q32.2	ZC3HC1	rs11556924-C	0.62	9E-18		1.09	[1.07-1.12]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1580	chr7	130432537	130432538	rs13241165	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	7q32.2	KLF14	rs13241165-T	0.51	8E-10		0.037	[0.025-0.049] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1580	chr7	130432537	130432538	rs13241165	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	7q32.2	KLF14	rs13241165-T	0.51	8E-10		0.037	[0.025-0.049] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1580	chr7	130433383	130433384	rs4731702	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	7q32.2	KLF14	rs4731702-T	0.49	5E-17		0.029	[NR] unit increase	NR [NR] (imputed)	N
1580	chr7	130433383	130433384	rs4731702	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	7q32.2	KLF14	rs4731702-T	0.48	1E-15		0.59	[0.45-0.73] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1580	chr7	130439861	130439862	rs13241538	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7q32.2	KLF14	rs13241538-C	0.4784	4E-6	(EA, women)	0.0207	[0.012-0.03] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1580	chr7	130439861	130439862	rs13241538	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	7q32.2	KLF14	rs13241538-C	0.4714	9E-6	(women)	0.0195	[0.011-0.028] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1580	chr7	130466853	130466854	rs972283	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	7q32.2	KLF14	rs972283-G		2E-10		1.07	[1.05-1.10]	Affymetrix, Illumina [2426886] (imputed)	N
1581	chr7	130585552	130585553	rs157935	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	7q32.3	KLF14	rs157935-T	0.675	4E-20		1.21	[NR]	Illumina [24988228] (imputed)	N
1581	chr7	130585552	130585553	rs157935	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	7q32.3	KLF14	rs157935-T		9E-11		1.23	[1.15-1.31]	Illumina [38500000] (imputed)	N
1581	chr7	130653850	130653851	rs2048672	21908515	Cai Q	2011-09-09	Hum Mol Genet	Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium.	Breast cancer	2,062 East Asian ancestry cases, 2,066 East Asian ancestry controls	15,091 East Asian ancestry cases, 14,877 East Asian ancestry controls	7q32.3	NR	rs2048672-C	0.45	6E-6		1.11	[1.05-1.17]	Affymetrix [684457]	N
1582	chr7	130680520	130680521	rs6971499	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	7q32.3	LINC-PINT	rs6971499-?	NR	7E-6		1.2345679	[1.14-1.35]	Illumina [866891] (imputed)	N
1582	chr7	130680520	130680521	rs6971499	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls	7q32.3	COPG2, TSGA13, KLF14, MIR29A, MIR29B1, LOC646329, LINC-PINT, MKLN1	rs6971499-T	0.853	3E-12		1.27	[1.19-1.35]	Illumina [608202]	N
1582	chr7	130754811	130754812	rs4731742	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	7q32.3	LINC-PINT	rs4731742-G	0.3	4E-7		0.12	[NR] unit decrease	Affymetrix, Illumina [at least 1569314] (imputed)	N
1583	chr7	130900120	130900121	rs10265216	20038947	Shyn SI	2009-12-29	Mol Psychiatry	Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.	Major depressive disorder (broad)	3,957 European ancestry cases, 3,428 European ancestry controls	NA	7q32.3	AK294384	rs10265216-A	0.28	3E-6		1.19	[NR]	Affymetrix, Perlegen [2391203] (imputed)	N
1584	chr7	131021098	131021099	rs7807274	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	7q32.3	MKLN1	rs7807274-?	NR	4E-6				Affymetrix [786195]	N
1586	chr7	131287989	131287990	rs12534221	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal AB1-42 levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	7q32.3	intergenic	rs12534221-A	NR	9E-7	(Controls)			Illumina [498205]	N
1587	chr7	131370038	131370039	rs11761231	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	7q32.3	intergenic	rs11761231-G	0.62	4E-7	(sex-differentiated)	1.44	[1.19-1.75]	Affymetrix [469557]	N
1587	chr7	131453524	131453525	rs1106683	17903300	Fox CS	2007-09-19	BMC Med Genet	Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.	Body mass index	1,341 European ancestry individuals from 310 families	NA	7q32.3	intergenic	rs1106683-?	NR	1E-7				Affymetrix [70897]	N
1587	chr7	131453664	131453665	rs1106684	17903300	Fox CS	2007-09-19	BMC Med Genet	Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.	Body mass index	1,341 European ancestry individuals from 310 families	NA	7q32.3	intergenic	rs1106684-?	NR	2E-6				Affymetrix [70897]	N
1588	chr7	131567262	131567263	rs7801375	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q32.3	NR	rs7801375-G	NR	9E-9		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1588	chr7	131567262	131567263	rs7801375	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	7q32.3	PODXL	rs7801375-G	0.848	4E-8		1.0822511	[1.05-1.11]	Affymetrix, Illumina [9005918] (imputed)	N
1589	chr7	131713359	131713360	rs17166082	23593239	van der Loos MJ	2013-04-04	PLoS One	The molecular genetic architecture of self-employment.	Self-employment	7,734 European ancestry cases, 42,893 European ancestry controls	737 cases, 2,534 controls	7q32.3	PLXNA4	rs17166082-A	0.06	9E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
1590	chr7	131815342	131815343	rs10954361	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	7q32.3	PLXNA4	rs10954361-G	0.2143	7E-6	(Phonemic Fluency)	3.6994	[2.10-5.30] unit increase	Affymetrix [> 371951] (imputed)	N
1590	chr7	131818096	131818097	rs182006024	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7q32.3	NR	rs182006024-?	NR	4E-6	(EA)	0.6284	[0.36-0.89] unit increase	Illumina [up to 11892802] (imputed)	N
1590	chr7	131829127	131829128	rs1399090	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	7q32.3	PLXNA4	rs1399090-T	NR	7E-6	(Foreign Policy)	0.216	[0.12-0.31] unit decrease	Illumina [628922]	N
1590	chr7	131853600	131853601	rs12386622	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	7q32.3	PLXNA4	rs12386622-A	0.162	3E-6	(n-6 PUFA)			Affymetrix [590000]	N
1591	chr7	131893484	131893485	rs62468398	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	7q32.3	PLXNA4	rs62468398-?		8E-6	(PC2)	0.1634	[NR] unit decrease	Illumina [4167292] (imputed)	N
1593	chr7	132189688	132189689	rs10808265	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	7q32.3	PLXNA4B	rs10808265-?	NR	2E-6	(FEV1 decline in asthmatics)	0.1746	[0.10-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
1594	chr7	132325308	132325309	rs4731889	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		7q32.3	PLXNA4	rs4731889-A	NR	5E-6		0.0856	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1598	chr7	132886051	132886052	rs28375034	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q33	NR	rs28375034-G	NR	9E-7		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1602	chr7	133335175	133335176	rs10488172	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	7q33	EXOC4	rs10488172-?	NR	8E-6	(RWLTA)			Affymetrix [70897]	N
1605	chr7	133747945	133747946	rs11770757	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		7q33	EXOC4	rs11770757-?	0.04	5E-7		0.16	unit decrease	Illumina [NR] (imputed)	N
1609	chr7	134250321	134250322	rs4732038	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	7q33	AKR1B15	rs4732038-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1611	chr7	134490461	134490462	rs17169635	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	7q33	CALD1	rs17169635-?		6E-6	(EA)	3.526	[NR]	Illumina [936149]	N
1613	chr7	134785740	134785741	rs17231212	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-10)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	7q33	LOC100129730	rs17231212-G		2E-8	(AA)			Illumina [NR]	N
1617	chr7	135293127	135293128	rs4294134	21623375	Albagha OM	2011-05-29	Nat Genet	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.	Paget's disease	741 European ancestry cases, 2,699 European ancestry controls	1,474 European ancestry cases, 1,671 European ancestry controls	7q33	NUP205	rs4294134-G	0.84	8E-10		1.45	[1.29-1.63]	Illumina [2487078] (imputed)	N
1617	chr7	135329977	135329978	rs12530845	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	7q33	NR	rs12530845-?	NR	3E-8	(MCH)			Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1618	chr7	135479572	135479573	rs12707249	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q33	FAM180A, UNQ1940	rs12707249-A	0.292	3E-6	(GLU )	0.02	[NR] mg/dL increase	Illumina [899892]	N
1618	chr7	135488620	135488621	rs6946494	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	7q33	UNQ194	rs6946494-A	0.83	8E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1618	chr7	135501468	135501469	rs13237474	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	7q33	FAM180A	rs13237474-T	0.03	2E-7	(Age 20-60 years)	3.05	[2.00-4.65]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1621	chr7	135884570	135884571	rs834811	26114229	Ashley-Koch AE	2015-06-12	J Affect Disord	Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.	Post-traumatic stress disorder	949 non-Hispanic black individuals, 759 European ancestry individuals	NA	7q33	intergenic	rs834811-?	NR	7E-6	AA	1.63	[NR]	Illumina [up to 5616481] (imputed)	N
1623	chr7	136146535	136146536	rs10250997	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	7q33	intergenic	rs10250997-C	NR	8E-6	(5 degree of freedom test)	1.03	[0.99-1.07]	NR [1252901] (imputed)	N
1627	chr7	136584362	136584363	rs1364402	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	7q33	intergenic	rs1364402-?	0.91	4E-6		1.19	[1.11-1.28]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1627	chr7	136642633	136642634	rs2350782	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	7q33	CHRM2	rs2350782-C	0.116	1E-12		0.505	[0.35-0.66] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1630	chr7	137074843	137074844	rs3735025	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q33	NR	rs3735025-T	NR	2E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
1630	chr7	137074843	137074844	rs3735025	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	7q33	DGKI, PTN	rs3735025-T	0.642	3E-9		1.066	[1.043-1.089]	Affymetrix, Illumina [9005918] (imputed)	N
1631	chr7	137203818	137203819	rs6467710	21502085	Troyer JL	2011-05-01	J Infect Dis	Genome-wide association study implicates PARD3B-based AIDS restriction.	AIDS progression	755 European ancestry seroconverter cases	NA	7q33	DGKI	rs6467710-?	0.02	6E-7		4.3	[NR]	Affymetrix [700022]	N
1634	chr7	137529577	137529578	rs6978230	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	7q33	DGKI	rs6978230-?	NR	6E-6	(EA)	0.024	[0.01369-0.03423] unit decrease	Illumina [1530316]	N
1636	chr7	137788491	137788492	rs6980334	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	7q33	AKR1D1	rs6980334-A	0.76	4E-20	(X-12095--N1-methyl-3-pyridone-4-carboxamide/X-12844)	0.038	[0.030-0.046] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1636	chr7	137799568	137799569	rs2035647	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q33	AKR1D1	rs2035647-A	0.21	2E-17	(X-12844)	0.029	[0.023-0.035] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1636	chr7	137858765	137858766	rs10255295	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	7q33	intergenic	rs10255295-A		5E-6	(Modelling analysis)	1.1	[1.06-1.14]	NR [1252901] (imputed)	N
1636	chr7	137858765	137858766	rs10255295	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	7q33	AKR1D1	rs10255295-G	NR	5E-6		1.31	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1638	chr7	138049386	138049387	rs357394	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	7q33	intergenic	rs357394-?	NR	9E-6	(ppFVC)			Affymetrix [70897]	N
1639	chr7	138157389	138157390	rs1874326	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	7q33	TRIM24	rs1874326-G	0.47	9E-6	(weight)	0.22	[NR] lb. increase	Affymetrix [408775]	N
1640	chr7	138411424	138411425	rs3800569	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	7q34	ATP6V0A4	rs3800569-C	0.13	6E-6		1.2	[0.69-1.71] unit increase	Illumina [660740]	N
1644	chr7	138850966	138850967	rs60580184	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	7q34	TTC26	rs60580184-A	0.025	1E-7		0.34	[0.18-0.5] unit increase	Illumina [6391392] (imputed)	N
1645	chr7	139040257	139040258	rs11971779	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7q34	FMC1, LUC7L2	rs11971779-A	0.169	1E-6		2.43	[1.69-3.5]	Illumina [1556551]	N
1649	chr7	139506579	139506580	rs10277664	24086445	Wang Q	2013-09-24	PLoS One	Genome-wide association analysis with gray matter volume as a quantitative phenotype in first-episode treatment-na&#x000ef;ve patients with schizophrenia.	Gray matter volume (schizophrenia interaction)	74 Han Chinese ancestry cases, 51 Han Chinese ancestry controls	NA	7q34	TBXAS1	rs10277664-?	NR	1E-7		0.0432	[NR] unit decrease	NR [1983054] (imputed)	N
1649	chr7	139557946	139557947	rs194151	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q34	TBXAS1	rs194151-A	0.42	9E-6	(Bike energy expenditure )	0.03	[NR] kcal/min increase	Illumina [899892]	N
1650	chr7	139591859	139591860	rs7810727	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	7q34	intergenic	rs7810727-T	0.31	8E-6		1.11	[1.06-1.16]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1650	chr7	139687303	139687304	rs8192851	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	7q34	TBXAS1	rs8192851-?		2E-6				Illumina [859311]	N
1650	chr7	139702592	139702593	rs17837497	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	7q34	TBXAS1	rs17837497-A	0.016	2E-6		2.34	[1.65-3.31]	Affymetrix [444044]	N
1654	chr7	140231129	140231130	rs10237118	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	7q34	DENND2A	rs10237118-C	NR	4E-6		0.313	[0.15-0.47] unit increase	Illumina [~ 2740000] (imputed)	N
1657	chr7	140592226	140592227	rs17623382	22437554	Major JM	2012-03-21	J Nutr	Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.	Response to Vitamin E supplementation	2,112 European ancestry individuals	NA	7q34	BRAF	rs17623382-G	0.16	4E-6	(change in alpha-TOH)	0.78	[0.45-1.11] unit increase	Illumina [549989]	N
1659	chr7	140888320	140888321	rs16882396	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	7q34	LOC100507421	rs16882396-C	0.015	2E-6		1.1568	[NR] unit decrease	Illumina [1216189] (imputed)	N
1660	chr7	140970818	140970819	rs76405237	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q34	NR	rs76405237-G	NR	4E-6		1.1494253	[NR]	Illumina [7158791] (imputed)	N
1663	chr7	141300610	141300611	rs7789850	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Mood disorder and prion disease	Up to 170 cases, 5,200 controls	NA	7q34	AGK	rs7789850-?	0.026	2E-6		4.6	[2.70-7.83]	Illumina [518938]	N
1664	chr7	141505086	141505087	rs145241704	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	7q34	CLEC5A, LOC136242 KIAA1147, MGAM, OR9A4, SSBP1, TAS2R3, TAS2R4, TAS2R5, TAS2R38, WEE2	rs145241704-T	0.952	2E-7		0.143	[0.09-0.196] unit decrease	Illumina [6150213] (imputed)	N
1665	chr7	141672603	141672604	rs10246939	23966204	Ledda M	2013-08-20	Hum Mol Genet	GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.	Bitter taste perception	503 Brazillian ancestry individuals	104 Brazillian ancestry individuals	7q34	Tas2R38	rs10246939-?	NR	2E-62	(PROP)	0.39	[0.34-0.44] unit decrease	Illumina [~ 1000000]	N
1665	chr7	141673344	141673345	rs713598	20675712	Reed DR	2010-07-31	Hum Mol Genet	The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12.	Bitter taste response	1,457 European ancestry individuals	73 European ancestry individuals	7q34	TAS2R38	rs713598-?	0.40	2E-104	(PROP)			Illumina [~ 2300000] (imputed)	N
1666	chr7	141801006	141801007	rs3800993	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q34	MGAM	rs3800993-T	0.17	2E-15	(1,5-anhydroglucitol (1,5-AG))	0.029	[0.021-0.037] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1667	chr7	141892706	141892707	rs12703441	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	7q34	intergenic	rs12703441-C		7E-6	(EA, factor score analysis)	0.062	[NR] unit decrease	Affymetrix [up to 730090]	N
1669	chr7	142104570	142104571	rs361433	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA		intergenic	rs361433-?	NR	9E-7				NR [~ 2000000]	N
1669	chr7	142141745	142141746	rs11982969	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	7q34	NR	rs11982969-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1670	chr7	142274853	142274854	rs2854536	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy	1,189 Chinese ancestry cases, 1,997 Chinese ancestry controls	2,693 European ancestry cases, 11,495 European ancestry controls	7q34	TRB	rs2854536-?	0.292	4E-8		1.28	[1.18-1.41]	Affymetrix [603382]	N
1671	chr7	142456927	142456928	rs10273639	23143602	Whitcomb DC	2012-11-11	Nat Genet	Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.	Pancreatitis	676 European ancestry cases, 4,507 European ancestry controls	910 European ancestry cases, 4,170 European ancestry controls	7q34	PRSS2, PRSS1	rs10273639-C	0.576	2E-14		1.36	[1.30-1.42]	Illumina [625739]	N
1672	chr7	142585005	142585006	rs4987595	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	7q34	NR	rs4987595-T	NR	1E-6		0.044	[0.024-0.064] unit decrease	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
1676	chr7	143109138	143109139	rs11767557	21460841	Naj AC	2011-04-03	Nat Genet	Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	8,309 European ancestry cases, 7,366 European ancestry controls	10,523 European ancestry cases, 28,231 European ancestry controls	7q35	EPHA1	rs11767557-?	0.81	6E-10		1.11	[1.08-1.16]	Affymetrix, Illumina [2324889] (imputed)	N
1676	chr7	143109207	143109208	rs75045569	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	7q35	EPHA1, TAS2R62P	rs75045569-T	0.83	8E-6		1.1494253	[1.08-1.22]	NR [NR]	N
1676	chr7	143110761	143110762	rs11771145	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	7q35	EPHA1	rs11771145-G	0.662	1E-13		1.1111	[1.08-1.14]	Illumina [7055881] (imputed)	N
1681	chr7	143741579	143741580	rs11976180	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q35	OR2A5	rs11976180-C	0.195	7E-6	(Light activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1684	chr7	144074928	144074929	rs720475	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	7q35	ARHGEF5, NOBOX	rs720475-G	0.75	7E-11		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1690	chr7	144841530	144841531	rs10487524	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	7q35	LOC643308	rs10487524-T	0.15	9E-6		1.6	[NR]	Illumina [835136]	N
1690	chr7	144892085	144892086	rs12531488	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	7q35	LOC643308	rs12531488-?	NR		<1 x 10-6 (multiple phenotypes)			Illumina [530992]	N
1691	chr7	145062739	145062740	rs10227393	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption	17,479 European ancestry high consumption individuals, 31,049 European ancestry no or low consumption individuals	6,497 European ancestry high consumption individuals, 432 African American high consumption individuals, 6,972 European ancestry no or low consumption individuals, 3,413 African American no or low consumption individuals	7q35	NR	rs10227393-C	NR	9E-6		0.08	[0.041-0.119] unit decrease	Affymetrix, Illumina [2376205] (imputed)	N
1698	chr7	145959242	145959243	rs802568	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	7q35	CNTNAP2	rs802568-?	NR	2E-7		2.0307	[NR]	Affymetrix [722112]	N
1698	chr7	145962185	145962186	rs802571	26049409	Hirano A	2015-06-05	Psychiatr Genet	A genome-wide association study of late-onset Alzheimer's disease in a Japanese population.	Alzheimer's disease (late onset)	489 Japanese ancestry APOE-?4 noncarrier cases, 6,463 Japanese ancestry APOE-?4 noncarrier controls, 323 Japanese ancestry APOE-?4 carrier cases, 1,484 Japanese ancestry APOE-?4 carrier controls, 4 Japanese ancestry cases, 45 Japanese ancestry controls	528 Japanese ancestry APOE-?4 noncarrier cases, 5,824 Japanese ancestry APOE-?4 noncarrier controls, 480 Japanese ancestry APOE-?4 carrier cases, 1,364 Japanese ancestry APOE-?4 carrier controls, 3 Japanese ancestry cases, 24 Japanese ancestry controls	7q35	CNTNAP2	rs802571-T	0.916	1E-6	(noncarrier)	1.923077	[1.47-2.50]	Illumina [561143]	N
1699	chr7	146135937	146135938	rs1358075	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q35	CNTNAP2	rs1358075-G	0.012	9E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1705	chr7	146887867	146887868	rs17170356	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	7q35	CNTNAP2	rs17170356-?		4E-6	(PC3)	0.1547	[NR] unit increase	Illumina [4167292] (imputed)	N
1705	chr7	146897402	146897403	rs10273775	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	7q35	CNTNAP2	rs10273775-G	0.42	9E-6		1.52	[1.27-1.84]	Illumina [2505093] (imputed)	N
1708	chr7	147226890	147226891	rs6464816	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	7q35	CNTNAP2	rs6464816-A	0.15	9E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1708	chr7	147258630	147258631	rs6960319	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	7q35	CNTNAP2	rs6960319-?	NR	7E-6		0.36	[0.18-0.54] unit decrease	Illumina [1075436] (imputed)	N
1710	chr7	147577536	147577537	rs2708240	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	7q35	CNTNAP2	rs2708240-A	0.51	4E-6	(Tri-Tetra/cyclic antidepressants)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1711	chr7	147615639	147615640	rs2538958	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q35	NR	rs2538958-C	0.436017399375279	8E-6	(IGP56)	0.1388	[0.078-0.2] unit increase	Illumina [~ 2500000] (imputed)	N
1711	chr7	147616792	147616793	rs146883444	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	7q35	NR	rs146883444-?	NR	6E-6	(AA)	1.4347	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1711	chr7	147702691	147702692	rs2214681	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Bone mineral density	Up to 1,141 individuals from 241 families	NA	7q35	CNTNAP2	rs2214681-?	NR	3E-6	(BUA)			Affymetrix [70897]	N
1713	chr7	147901015	147901016	rs4549702	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	7q36.1	CNTNAP2	rs4549702-G	0.40	1E-6	(AA, Dietary energy)	0.02	[0.01-0.03] unit increase	Affymetrix [706791]	N
1713	chr7	147901015	147901016	rs4549702	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	7q36.1	CNTNAP	rs4549702-G	0.34	1E-6	(Hispanic, Recreational Physical Activity)	0.01	[0.01-0.02] unit decrease	Affymetrix [706791]	N
1715	chr7	148220447	148220448	rs2538470	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q36.1	CNTNAP2	rs2538470-A	0.3622	3E-7	(EA)	1.0682071	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1715	chr7	148220447	148220448	rs2538470	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q36.1	CNTNAP2	rs2538470-A	0.3622	3E-11	(EA)	1.0698943	[1.05-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1715	chr7	148220447	148220448	rs2538470	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	7q36.1	CNTNAP2	rs2538470-A	0.3622	1E-9	(EA)	1.0778457	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1716	chr7	148258047	148258048	rs7807268	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	7q36.1	NR	rs7807268-G	0.46	4E-6		1.38	[1.20-1.60]	Affymetrix [469557]	N
1718	chr7	148629758	148629759	rs822531	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	7q36.1	EZH2	rs822531-T	0.776	2E-18		0.036	[0.028-0.044] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1719	chr7	148650633	148650634	rs822552	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	7q36.1	PDIA4	rs822552-C	0.74	3E-8		0.025	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1723	chr7	149203661	149203662	rs855913	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	7q36.1	ZNF746	rs855913-A	NR	4E-8	(survival)	1.08	[0.70-1.46] years increase	Illumina [288357]	N
1723	chr7	149289463	149289464	rs354033	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	7q36.1	ZNF767, ZNF746	rs354033-G	NR	5E-9		1.11	[1.1-1.13]	Illumina [465434]	N
1729	chr7	150036663	150036664	rs17173608	24964207	Mullins N	2014-06-25	Am J Med Genet B Neuropsychiatr Genet	Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.	Suicide attempts in depression or bipolar disorder	426 European ancestry cases, 2,844 European ancestry controls	NA	7q36.1	RARRES2	rs17173608-G	0.058	2E-7		1.93	[1.69-2.19]	Illumina [up to 503016]	N
1732	chr7	150361717	150361718	rs7795747	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	7q36.1	GIMAP2	rs7795747-A	0.01	5E-6		0.242	unit increase	Illumina [~ 6300000] (imputed)	N
1733	chr7	150510914	150510915	rs2888674	25979521	de Jong K	2015-06-05	J Allergy Clin Immunol	Genome-wide interaction study of gene-by-occupational exposure and effects on FEV<sub>1</sub> levels.	Forced expiratory volume in 1 second (environmental interaction)	12,400 individuals	1,436 individuals	7q36.1	TMEM176A	rs2888674-A	0.46	4E-7	Gases and fumes	123.5	[NR] unit increase	Illumina [up to 221663]	N
1733	chr7	150512171	150512172	rs10231759	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	7q36.1	TMEM176A	rs10231759-C	0.28	4E-9		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1733	chr7	150517021	150517022	rs2110001	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	7q36.1	TMEM176A	rs2110001-C	0.69	3E-13		0.031	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1733	chr7	150529448	150529449	rs17173637	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	7q36.1	TMEM176A	rs17173637-C	0.12	2E-8		0.036	[NR] unit decrease	NR [NR] (imputed)	N
1733	chr7	150543720	150543721	rs1005390	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	7q36.1	ABP1	rs1005390-T	0.8	3E-16	(Metabolite ratio 1)	0.035	[0.027-0.043] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1733	chr7	150543720	150543721	rs1005390	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	7q36.1	ABP1	rs1005390-T	0.8	3E-14	(X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide)	0.026	[0.02-0.032] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1734	chr7	150622161	150622162	rs2968864	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	7q36.1	KCNH2	rs2968864-C	0.25	8E-16		1.4	[1.06-1.74] msec decrease	Affymetrix, Illumina [up to 2543686] (imputed)	N
1734	chr7	150623136	150623137	rs2968863	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	7q36.1	KCNH2	rs2968863-T	0.29	2E-15		1.35	[0.90-1.80] ms decrease	Affymetrix, Illumina [2557000] (imputed)	N
1734	chr7	150637862	150637863	rs4725982	20062061	Chambers JC	2010-01-10	Nat Genet	Genetic variation in SCN10A influences cardiac conduction.	Electrocardiographic traits	6,543 Indian Asian ancestry individuals	6,243 Indian Asian ancestry individuals, 5,370 European ancestry individuals	7q36.1	KCNH2	rs4725982-A	NR	3E-6	(QTc interval)	2.08	[1.20-2.96] ms increase	Illumina [303309]	N
1734	chr7	150637862	150637863	rs4725982	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	7q36.1	KCNH2	rs4725982-T	0.22	5E-16		1.58	[1.23-1.92] msec increase	Affymetrix, Illumina [up to 2543686] (imputed)	N
1734	chr7	150647968	150647969	rs2072413	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	7q36.1	KCNH2	rs2072413-T	0.266	1E-49		1.68	[1.46-1.9] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1734	chr7	150667209	150667210	rs3807375	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	7q36.1	KCNH2	rs3807375-T	0.36	3E-33		1.22	[1.02-1.42] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1734	chr7	150667209	150667210	rs3807375	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	7q36.1	KCNH2	rs3807375-T	0.35	5E-11	(QT interval)	11.95	[8.39-15.51] % s.d. increase	Illumina [306060]	N
1734	chr7	150669975	150669976	rs3778872	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	7q36.1	KCNH2	rs3778872-C	0.64	3E-6		1.77	[1.04-2.50] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1736	chr7	150915070	150915071	rs1122979	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q36.1	ABCF2, SMARCD3	rs1122979-G	0.875396395193591	6E-10	(IGP45)	0.3046	[0.21-0.4] unit increase	Illumina [~ 2500000] (imputed)	N
1736	chr7	150915070	150915071	rs1122979	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q36.1	ABCF2, SMARCD3	rs1122979-G	0.875342207034728	2E-9	(IGP5)	0.2945	[0.2-0.39] unit increase	Illumina [~ 2500000] (imputed)	N
1736	chr7	150915070	150915071	rs1122979	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q36.1	ABCF2, SMARCD3	rs1122979-G	0.875182808816914	2E-10	(IGP2)	0.3134	[0.22-0.41] unit increase	Illumina [~ 2500000] (imputed)	N
1736	chr7	150915070	150915071	rs1122979	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q36.1	ABCF2, SMARCD3	rs1122979-G	0.874968858612975	7E-6	(IGP59)	0.2213	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
1736	chr7	150915070	150915071	rs1122979	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q36.1	ABCF2, SMARCD3	rs1122979-G	0.874862054831461	1E-9	(IGP42)	0.2982	[0.2-0.39] unit increase	Illumina [~ 2500000] (imputed)	N
1736	chr7	150919828	150919829	rs7812088	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	7q36.1	ABCF2	rs7812088-A	0.13	7E-9	(FNBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1737	chr7	151120947	151120948	rs13232179	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Coronary heart disease	260 African American cases, 5,053 African American controls	621 African American cases, 1,629 African American controls	7q36.1	intergenic	rs13232179-A	0.11	1E-6		1.67	[1.36-2.06]	Affymetrix [~ 2740000] (imputed)	N
1740	chr7	151406004	151406005	rs10480300	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	7q36.1	PRKAG2	rs10480300-T	0.28	4E-9		0.035	[0.023-0.047] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1740	chr7	151406004	151406005	rs10480300	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	7q36.1	PRKAG2	rs10480300-C	0.72	8E-15	(EA, Hgb)	0.052	[0.038-0.066] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1740	chr7	151407800	151407801	rs7805747	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	7q36.1	PRKAG2	rs7805747-A	0.24	4E-12	(CKD)	1.18	[1.12-1.25]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1740	chr7	151415040	151415041	rs10224002	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	7q36.1	PRKAG2	rs10224002-G	NR	3E-15		0.07	[0.05-0.09] g/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1740	chr7	151415040	151415041	rs10224002	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hematocrit	24,167 European ancestry individuals	9,456 European ancestry individuals	7q36.1	PRKAG2	rs10224002-G	NR	6E-15		0.2	[0.15-0.25] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1741	chr7	151546588	151546589	rs7795096	21305692	Belmonte Mahon P	2011-02-08	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder.	Bipolar disorder (age of onset and psychotic symptoms)	2,836 European ancestry cases, 2,744 European ancestry controls	3,916 European cases, 5,112 controls	7q36.1	PRKAG2	rs7795096-?	NR	2E-6	(psychotic symptoms)	1.2	[NR]	Affymetrix, Illumina [2373895] (imputed)	N
1742	chr7	151710546	151710547	rs1019173	25493955	Gorski M	2014-12-10	Kidney Int	Genome-wide association study of kidney function decline in individuals of European descent.	Kidney function decline traits	up to 45,530 European ancestry individuals	up to 18,028 European ancestry individuals	7q36.1	GALNTL5, GALNT11, MLL3, CCT8L1	rs1019173-A	0.63	2E-7	(Rapid decline overall)	0.1	[NR] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1747	chr7	152387868	152387869	rs10234749	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		7q36.1	XRCC2	rs10234749-T	NR	4E-6		0.1788	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1747	chr7	152391898	152391899	rs13232006	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	7q36.1	intergenic	rs13232006-?		4E-6				NR [~ 3000000] (imputed)	N
1749	chr7	152669839	152669840	rs11981919	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q36.2	ACTR3B	rs11981919-A	0.01	9E-6	(Weight )	0.02	[NR] kg increase	Illumina [899892]	N
1750	chr7	152745809	152745810	rs4725479	25082827	Julia A	2014-07-31	Hum Mol Genet	A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.	Ulcerative colitis	up to 7,483 European ancestry cases, up to 21,211 European ancestry controls	1,073 European ancestry cases, 1,279 European ancestry controls	7q36.2	ACTR3B	rs4725479-?	0.66	5E-7	(Southern European)	1.19	[1.04-1.35]	Illumina [546271]	N
1751	chr7	152878332	152878333	rs4285401	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Nicotine use	7,188 European ancestry individuals	NA	7q36.2	NR	rs4285401-A	0.447	2E-6		5.599	[NR] unit increase	Illumina [527829]	N
1752	chr7	153056619	153056620	rs4726279	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	7q36.2	NR	rs4726279-T	NR	9E-6	(phenotype 1)	2.7	[NR]	Illumina [> 8000000] (imputed)	N
1754	chr7	153271876	153271877	rs11771429	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	7q36.2	NR	rs11771429-G	0.816	8E-6		1.1905	[1.1-1.28]	Illumina [922031]	N
1754	chr7	153271876	153271877	rs11771429	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Barrett's esophagus	2,416 European ancestry cases, 3,206 European ancestry controls	759 European ancestry cases, 6,911 European ancestry controls	7q36.2	NR	rs11771429-G	0.816	7E-6		1.2195	[1.12-1.33]	Illumina [922031]	N
1756	chr7	153535688	153535689	rs2110267	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	7q36.2	NR	rs2110267-C		5E-7				Illumina [2373249] (imputed)	N
1756	chr7	153535688	153535689	rs2110267	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	7q36.2	NR	rs2110267-C		6E-6				Illumina [2373249] (imputed)	N
1756	chr7	153549295	153549296	rs2192271	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	7q36.2	NR	rs2192271-T		1E-6				Illumina [2373249] (imputed)	N
1756	chr7	153553063	153553064	rs6947495	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	7q36.2	NR	rs6947495-A		1E-6				Illumina [2373249] (imputed)	N
1756	chr7	153558948	153558949	rs12671878	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	7q36.2	NR	rs12671878-A		1E-6				Illumina [2373249] (imputed)	N
1756	chr7	153578415	153578416	rs38989	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	7q36.2	NR	rs38989-G	0.405296777978339	7E-6	(IGP52)	0.1524	[0.086-0.219] unit decrease	Illumina [~ 2500000] (imputed)	N
1757	chr7	153625842	153625843	rs6464375	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	7q36.2	DPP6	rs6464375-A	0.10	4E-7	(recessive)	3.73	[2.24-6.21]	Illumina [420236]	N
1760	chr7	154072019	154072020	rs6977820	21826085	Tanaka S	2011-08-09	Pharmacogenomics J	DPP6 as a candidate gene for neuroleptic-induced tardive dyskinesia.	Tardive dyskinesia	61 Japanese ancestry schizophrenic cases, 61 Japanese ancestry cases schizophrenic controls	36 Japanese ancestry schizophrenic cases, 138 Japanese ancestry schizophrenic controls	7q36.2	DPP6	rs6977820-?	NR	5E-6		2.32	[1.61-3.34]	Illumina [257704]	N
1761	chr7	154210797	154210798	rs10260404	18987618	Cronin S	2008-11-05	Eur J Hum Genet	Screening for replication of genome-wide SNP associations in sporadic ALS.	Amyotrophic lateral sclerosis	958 European ancestry cases, 932 European ancestry controls	309 European ancestry cases, 404 European ancestry controls	7q36.2	DPP6	rs10260404-C	0.35	3E-6		1.37	[1.20-1.56]	Illumina [287522]	N
1761	chr7	154210797	154210798	rs10260404	18084291	van Es MA	2007-12-16	Nat Genet	Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	737 European ancestry cases, 721 European ancestry controls	1,030 European ancestry cases, 1,195 European ancestry controls	7q36.2	DPP6	rs10260404-C	0.35	5E-8		1.3	[1.18-1.43]	Illumina [311946]	N
1761	chr7	154210797	154210798	rs10260404	18057069	Cronin S	2007-12-07	Hum Mol Genet	A genome-wide association study of sporadic ALS in a homogenous Irish population.	Amyotrophic lateral sclerosis	221 Genetically Homogenous Irish cases, 211 Genetically Homogenous Irish controls	737 European ancestry cases, 721 European ancestry controls	7q36.2	DPP6	rs10260404-?	0.37	3E-6		1.37	[1.20-1.56]	Illumina [497917]	N
1763	chr7	154509323	154509324	rs12666280	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QT interval	455 African American individuals	NA	7q36.2	DPP6	rs12666280-C		2E-6		8.93	[NR] ms increase	Illumina [> 930000]	N
1764	chr7	154592865	154592866	rs71534169	24677629	Wolf EJ	2014-03-27	Depress Anxiety	A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.	Post-traumatic stress disorder	484 European ancestry trauma-exposed individuals	NA	7q36.2	DPP6	rs71534169-?		4E-6		1.63	[0.94-2.32] unit increase	Illumina [1197702]	N
1764	chr7	154622456	154622457	rs2316527	26025128	Park HW	2015-05-27	J Allergy Clin Immunol	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.	Bone mineral accretion in asthma (oral corticosteroid dose interaction)	489 European ancestry children	NA	7q36.2	DPP6	rs2316527-?		8E-8				Illumina [NR]	N
1765	chr7	154680909	154680910	rs12534701	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	7q36.2	DPP6	rs12534701-?	0.54-0.62	2E-6	(Fiber)	1.17	[1.09-1.24]	Affymetrix, Illumina [> 2700000] (imputed)	N
1766	chr7	154900856	154900857	rs2969540	24662972	Figueroa JD	2014-03-24	Carcinogenesis	Genome-wide interaction study of smoking and bladder cancer risk.	Bladder cancer (smoking interaction)	560 European ancestry never smoker cases, 2,442 European ancestry ever smoker cases, 1,406 European ancestry never smoker controls, 3,005 European ancestry ever smoker controls	494 European ancestry never smoker cases, 1,927 European ancestry ever smoker cases, 2,257 European ancestry never smoker controls, 3,490 European ancestry ever smoker controls	7q36.2	HTR5A, PAXIP1, INSIG1	rs2969540-?	NR	2E-6	(multiplicative, retrospective analysis)			Illumina [491011]	N
1767	chr7	154970468	154970469	rs10263087	22648509	Wang KS	2012-05-31	J Mol Neurosci	PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.	Formal thought disorder in schizophrenia	835 European ancestry cases, 2,694 European ancestry controls	NA	7q36.2	INSIG1	rs10263087-C	0.09	7E-6		1.547	[NR]	Affymetrix [729454]	N
1767	chr7	155008712	155008713	rs1561176	23903073	Kim HN	2013-08-01	J Hum Genet	Genome-wide association study of the five-factor model of personality in young Korean women.	Personality dimensions	1,089 Korean ancestry females	2,090 Korean ancestry individuals	7q36.3	HTR5A	rs1561176-G		7E-6	(Openness)	0.06	[0.0012-0.1188] unit decrease	Illumina [2053685] (imputed)	N
1767	chr7	155018929	155018930	rs6953837	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	7q36.3	NR	rs6953837-A	NR	7E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1769	chr7	155285134	155285135	rs1861960	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	7q36.3	intergenic	rs1861960-T	0.2	6E-6		1.07	[1.04-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1772	chr7	155655692	155655693	rs34044649	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	7q36.3	intergenic	rs34044649-?	NR	6E-6		0.57	unit decrease	NR [at least 1978803] (imputed)	N
1773	chr7	155762156	155762157	rs6943029	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	7q36.3	SHH	rs6943029-A	0.067	8E-8	(ADP)			Affymetrix, Illumina [~ 2330000] (imputed)	N
1773	chr7	155768748	155768749	rs10267337	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q36.3	tcag7.1213	rs10267337-A	0.04	8E-6	(ALT )	0.03	[NR] U/L increase	Illumina [899892]	N
1773	chr7	155810500	155810501	rs73737676	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	7q36.3	intergenic	rs73737676-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1773	chr7	155837294	155837295	rs10226930	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		7q36.3	SHH	rs10226930-C	0.07	8E-7		1.375	[NR] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1775	chr7	156005078	156005079	rs7797990	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	7q36.3	tcag7.1213	rs7797990-?	NR	2E-6		3.548	[2.17-4.93] unit decrease	Illumina [498648]	N
1775	chr7	156048648	156048649	rs10949808	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	7q36.3	LOC393076	rs10949808-?	NR	1E-7		1.2699	[NR]	Affymetrix [722112]	N
1780	chr7	156736022	156736023	rs144759648	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	7q36.3	LMBR1, NOM1	rs144759648-A	NR	4E-6		1.79	[NR]	Illumina [up to 9792010] (imputed)	N
1781	chr7	156880397	156880398	rs6966038	19846067	Garriock HA	2009-10-19	Biol Psychiatry	A genomewide association study of citalopram response in major depressive disorder.	Response to citalopram treatment	Up to 659 European ancestry responders, up to 121 African American responders, up to 103 Hispanic responders, 408 European ancestry non-responders, 120 African American non-responders, 80 Hispanic non-responders	NA	7q36.3	UBE3C	rs6966038-?	0.20	4E-7	(remission)	1.68	[1.37-2.04]	Affymetrix [430198]	N
1781	chr7	156880397	156880398	rs6966038	19846067	Garriock HA	2009-10-19	Biol Psychiatry	A genomewide association study of citalopram response in major depressive disorder.	Response to citalopram treatment	Up to 659 European ancestry responders, up to 121 African American responders, up to 103 Hispanic responders, 408 European ancestry non-responders, 120 African American non-responders, 80 Hispanic non-responders	NA	7q36.3	UBE3C	rs6966038-?	0.19	5E-7	(response)	1.64	[1.35-1.99]	Affymetrix [430198]	N
1783	chr7	157045556	157045557	rs929354	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	7q36.3	UBE3C	rs929354-T	0.648	8E-6	(EA, men)	0.023	[0.013-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1783	chr7	157090295	157090296	rs2527866	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	7q36.3	UBE3C	rs2527866-C	0.23	3E-6	(SBP)	0.27	[NR] mm Hg decrease	Affymetrix [408775]	N
1784	chr7	157234418	157234419	rs4716734	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	7q36.3	NR	rs4716734-?	NR	2E-6	(Native Hawaiian)	0.5754	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1785	chr7	157294937	157294938	rs10227331	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	7q36.3	intergenic	rs10227331-?	NR	4E-6	(count)			Perlegen [429981]	N
1785	chr7	157387440	157387441	rs10274279	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		7q36.3	PTPRN2	rs10274279-?	0.123	4E-11			[NR]	Affymetrix, Illumina [152234]	N
1786	chr7	157505653	157505654	rs2533291	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	7q36.3	PTPRN2	rs2533291-?	NR	3E-10	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
1786	chr7	157510194	157510195	rs6459804	21057379	Curtis D	2010-11-04	Psychiatr Genet	Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.	Bipolar disorder and schizophrenia	506 European ancestry bipolar 1 disorder cases, 523 European ancestry schizophrenia cases, 505 European ancestry controls	NA	7q36.3	PTPRN2	rs6459804-?	NR	8E-6				Affymetrix [302482]	N
1791	chr7	158120730	158120731	rs9768139	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	7q36.3	PTPRN2	rs9768139-G	0.423	6E-6		0.00176	[0.001-0.0025] unit decrease	Affymetrix [1219546] (imputed)	N
1791	chr7	158136985	158136986	rs4909189	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	7q36.3	PTPRN2	rs4909189-?	NR	3E-6	(SF9)			Affymetrix [5476100] (imputed)	N
1792	chr7	158223105	158223106	rs7786808	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	7q36.3	PTPRN2	rs7786808-G	0.445	8E-6	(Diet protein )	0.03	[NR] g/d increase	Illumina [899892]	N
1795	chr7	158724788	158724789	rs2730245	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	7q36.3	WDR60	rs2730245-G	0.33	3E-7		0.32	[0.19-0.44] cm increase	Affymetrix, Illumina [2260683] (imputed)	N
1796	chr7	158745141	158745142	rs262147	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	7q36.3	intergenic	rs262147-T		4E-6		150.06	[85.95-214.17] unit increase	Affymetrix, Illumina [at least 646791] (imputed)	N
1796	chr7	158846928	158846929	rs2730260	23406873	Shi Y	2013-02-28	Hum Mol Genet	A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.	Myopia (pathological)	665 Han Chinese ancestry cases, 960 Han Chinese ancestry controls	2,128 Han Chinese ancestry cases, 3,683 Han Chinese ancestry controls	7q36.3	VIPR2	rs2730260-C	0.238	9E-14		1.33	[1.23-1.44]	Illumina [286031]	N
586	chr8	240577	240578	rs55680580	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	8p23.3	NR	rs55680580-A	0.043	8E-6		0.288	[0.16-0.42] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
588	chr8	445600	445601	rs17665859	21646302	Bielinski SJ	2011-06-06	Mayo Clin Proc	Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.	Bilirubin levels	6,307 European ancestry individuals	NA	8p23.3	C8orf42	rs17665859-?	0.07	5E-7		0.088	[0.06-0.12] mg/dL decrease	Illumina [583129]	N
588	chr8	516478	516479	rs722782	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	8p23.3	C80rf42	rs722782-?	0.894	2E-6		1.67	[1.35-2.08]	Affymetrix, Illumina [6036699] (imputed)	N
588	chr8	523919	523920	rs10109541	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	8p23.3	NR	rs10109541-?	NR	9E-6		2.288	[1.32-3.26] unit decrease	Illumina [498648]	N
589	chr8	566206	566207	rs17666538	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p23.3	NR	rs17666538-C	0.073151367141585	7E-6	(IGP31)	0.2848	[0.16-0.41] unit decrease	Illumina [~ 2500000] (imputed)	N
591	chr8	812945	812946	rs17739794	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	8p23.3	ERICH1-AS1	rs17739794-?	NR	6E-6	(AUC)			NR [2092490]	N
592	chr8	977435	977436	rs113660214	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8p23.3	NR	rs113660214-?	NR	2E-6		0.5166	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
592	chr8	1035151	1035152	rs12681288	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p23.3	NR	rs12681288-A	NR	2E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
594	chr8	1244223	1244224	rs17669535	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	8p23.3	DLGAP2	rs17669535-C	0.97	6E-7	(AA)	14.5	[8.80-20.20] unit increase	Affymetrix, Illumina [NR] (imputed)	N
594	chr8	1299877	1299878	rs144606178	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8p23.3	NR	rs144606178-?	NR	6E-6	(Native Hawaiian)	0.5584	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
595	chr8	1373719	1373720	rs28680850	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Triglycerides	1,678 Mexican ancestry high triglyceride cases, 1,645 Mexican ancestry low triglyceride controls	2,129 Mexican ancestry high triglyceride cases, 2,985 Mexican ancestry low triglyceride controls, 903 Mexican ancestry individuals from 73 dyslipidemic families	8p23.3	LOC286083, DLGAP2	rs28680850-A	NR	7E-9		1.26	[1.15-1.39]	Illumina [1661241] (imputed)	N
598	chr8	1746949	1746950	rs11986414	22388998	Zhang CK	2012-01-19	Am J Hematol	Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.	Gaucher disease severity	139 Ashkenazi Jewish cases	NA	8p23.3	CLN8	rs11986414-A	NR	1E-6	(Gaucher disease 1 severity)	3.72	[2.19-6.31]	Illumina [540902]	N
599	chr8	1883351	1883352	rs13279485	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		8p23.3	ARHGEF10	rs13279485-?		1E-6	(Cluxel size)			Illumina [208975]	N
599	chr8	1951299	1951300	rs13263558	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p23.3	KBTBD11	rs13263558-A	0.062	3E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
600	chr8	1969725	1969726	rs6558578	24700089	Miura K	2014-04-04	J Med Virol	Genome-wide association study of HPV-associated cervical cancer in Japanese women.	Cervical cancer	226 Japanese ancestry cases, 186 Japanese ancestry controls	NA	8p23.3	intergenic	rs6558578-G	0.7608	7E-6		2.31	[1.59-3.34]	Affymetrix [556045]	N
600	chr8	2040103	2040104	rs2235121	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	8p23.3	NR	rs2235121-?	NR	8E-6		1.221	[NR]	Affymetrix [722112]	N
601	chr8	2113775	2113776	rs17685410	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	8p23.3	MYOM2, CSMD1, KBTBD11, ARHGEF10	rs17685410-A	0.3	2E-6		0.018	[0.010-0.026] unit increase	Affymetrix, Illumina [2378986] (imputed)	N
601	chr8	2128785	2128786	rs11987758	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	8p23.3	LOC100286951	rs11987758-?		8E-7				Illumina [859311]	N
601	chr8	2176909	2176910	rs4876199	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	8p23.3	MYOM2	rs4876199-T	0.87	4E-6	(Right HG thickness)	0.0515	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
604	chr8	2506898	2506899	rs10097215	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	8p23.2	CSMD1	rs10097215-T	0.122	2E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr8	2740501	2740502	rs641525	20709820	Kong X	2010-08-13	Am J Respir Crit Care Med	Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.	Emphysema-related traits	2,383 European ancestry cases	NA	8p23.2	CSMD1	rs641525-T	0.95	5E-7	(qualitative)	2.19	[NR]	Illumina [499578]	N
606	chr8	2780955	2780956	rs2627282	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	8p23.2	CSMD1	rs2627282-A	0.02	6E-7	(DBP, response to intervention)	2.29	[1.39-3.19] mmHg decrease	Affymetrix [2216774] (imputed)	N
606	chr8	2780955	2780956	rs2627282	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	8p23.2	CSMD1	rs2627282-A	0.02	3E-7	(MAP, response to intervention)	2.33	[1.45-3.21] mmHg decrease	Affymetrix [2216774] (imputed)	N
606	chr8	2819808	2819809	rs4875857	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p23.2	NR	rs4875857-C	0.177865535602329	5E-6	(IGP11)	0.1846	[0.11-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr8	2980122	2980123	rs9987128	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	8p23.2	CSMD1	rs9987128-?	NR	1E-6	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
608	chr8	3076958	3076959	rs28455997	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	8p23.2	CSMD1	rs28455997-T	0.84	3E-6	(Age 20-60 years)	1.48	[1.26-1.75]	Affymetrix, Illumina [up to 17585496] (imputed)	N
608	chr8	3088172	3088173	rs73660619	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		8p23.2	CSMD1	rs73660619-?	0.06	8E-7		0.26	unit decrease	Illumina [NR] (imputed)	N
608	chr8	3088762	3088763	rs1540507	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	8p23.2	CSMD1	rs1540507-?	0.78	9E-6	(Age 20-81 years)	1.47	[1.23-1.75]	Affymetrix, Illumina [up to 17585496] (imputed)	N
608	chr8	3091583	3091584	rs1442407	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	8p23.2	CSMD1	rs1442407-T	0.1	8E-6		1.98	[1.12-2.84] mmHg increase	Illumina [1019297] (imputed)	N
608	chr8	3118778	3118779	rs7819937	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8p23.2	CSMD1, MYOM2, LOC780813	rs7819937-A	0.436	3E-6		0.0		Illumina [1556551]	N
609	chr8	3156219	3156220	rs142816172	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	8p23.2	CSMD1	rs142816172-C	0.976	6E-6		0.273	[0.16-0.39] unit decrease	Illumina [6150213] (imputed)	N
609	chr8	3189895	3189896	rs2551043	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p23.2	CSMD1	rs2551043-G	0.234	7E-6	(Vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
610	chr8	3305841	3305842	rs142700918	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	8p23.2	CSMD1	rs142700918-G	0.93	1E-6	(EA, COPDGene + GenKOLS)	1.78	[1.41-2.25]	Illumina [NR] (imputed)	N
610	chr8	3316985	3316986	rs17394429	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p23.2	CSMD1	rs17394429-A	0.11	7E-6	(Hcy )	0.03	[NR] umol/L increase	Illumina [899892]	N
610	chr8	3364037	3364038	rs10109725	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	8p23.2	CSMD1	rs10109725-T	NR	6E-7	(%LAA-950, All)	0.28	[0.0056-0.5544] unit increase	Illumina [7600000] (imputed)	N
611	chr8	3488337	3488338	rs2449215	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p23.2	CSMD1	rs2449215-G	0.38	7E-7	(Light activity )	0.04	[NR] %awake time increase	Illumina [899892]	N
611	chr8	3507128	3507129	rs2449202	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	8p23.2	CSMD1	rs2449202-?	0.568	8E-6	(Dichotomous PC20)	1.2195122	[NR]	Illumina [546355]	N
611	chr8	3518478	3518479	rs13259853	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	8p23.2	CSMD1	rs13259853-A	NR	1E-6	(Cases)	0.088	[0.045-0.131] unit decrease	Illumina [6900000] (imputed)	N
612	chr8	3594905	3594906	rs2623702	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	8p23.2	CSMD1	rs2623702-?	NR	9E-6	(FEV1/FVC decline in asthmatics)	0.3236	[0.18-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
613	chr8	3743703	3743704	rs10113221	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	8p23.2	NR	rs10113221-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
613	chr8	3767209	3767210	rs2688325	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	8p23.2	CSMD1	rs2688325-T	0.29	2E-9		0.03	[0.018-0.042] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
614	chr8	3828137	3828138	rs1529316	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	8p23.2	CSMD1	rs1529316-?	0.47	2E-6		1.36	[NR]	Illumina [551642]	N
614	chr8	3863110	3863111	rs17068510	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	8p23.2	CSMD1	rs17068510-?		8E-6		0.291	[NR] unit increase	Illumina [5970354] (imputed)	N
615	chr8	3978129	3978130	rs4875284	23698163	Gong J	2013-05-21	Nutrients	Genome-wide association study of serum selenium concentrations.	Serum selenium levels	582 European ancestry individuals	621 European ancestry individuals	8p23.2	CSMD1	rs4875284-?	NR	3E-6		0.201	[0.12-0.29] mg/dL decrease	Illumina [2474333]	N
615	chr8	4025643	4025644	rs4395908	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	8p23.2	CSMD1	rs4395908-C	NR	1E-6	(CHAQ)	0.27	[0.17-0.37] unit decrease	Illumina [586062]	N
616	chr8	4078352	4078353	rs2407314	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	8p23.2	CSMD1	rs2407314-C	0.47	8E-6	(HOMA-IR)	9.0	[5.00 - 12.00] % decrease	Affymetrix [872243]	N
616	chr8	4105146	4105147	rs1714746	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	261 Japanese ancestry cases, 262 Japanese ancestry controls	NA	8p23.2	CSMD1	rs1714746-G	0.435	7E-6	(Recessive model)	1.61	[1.261-2.056]	Illumina [733202]	N
616	chr8	4110031	4110032	rs13259289	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	8p23.2	CSMD1	rs13259289-G	0.399	6E-6		8.675	[NR] unit decrease	Illumina [527829]	N
616	chr8	4164012	4164013	rs4875320	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	8p23.2	CSMD1	rs4875320-A	0.82	6E-6		0.0999	[0.057-0.143] unit decrease	Affymetrix [~ 2740000] (imputed)	N
616	chr8	4180843	4180844	rs10503253	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p23.2	NR	rs10503253-A	NR	1E-8		1.07	[NR]	Illumina [7158791] (imputed)	N
616	chr8	4180843	4180844	rs10503253	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	8p23.2	CSMD1	rs10503253-A	0.219	1E-8		1.073	[1.048-1.100]	Affymetrix, Illumina [9005918] (imputed)	N
616	chr8	4180843	4180844	rs10503253	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	8p23.2	CSMD1	rs10503253-?	0.193	4E-8	(Modelling analysis)			NR [1252901] (imputed)	N
616	chr8	4180843	4180844	rs10503253	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	8p23.2	CSMD1	rs10503253-A	0.19	2E-8		1.16	[1.11-1.21]	Affymetrix, Illumina [1252901] (imputed)	N
617	chr8	4214178	4214179	rs10503256	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	8p23.2	CSMD1	rs10503256-?	NR	9E-7		1.1	[NR]	Affymetrix [745006]	N
617	chr8	4238138	4238139	rs6558872	24166486	Sleiman P	2013-10-29	Sci Rep	GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.	Schizophrenia, schizoaffective disorder or bipolar disorder	11,985 European, African American, Asian, other and unknown ancestry schizophrenia cases, 377 European, African American, Asian, other and unknown ancestry schizoaffective disorder cases, 1,032 bipolar disorder cases, 34,676 European, African American, Asian, other and unknown ancestry controls	2652 individuals	8p23.2	CSMD1	rs6558872-?	0.571	5E-8				Affymetrix, Illumina [NR] (imputed)	N
617	chr8	4282617	4282618	rs980238	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	8p23.2	intergenic	rs980238-A	0.30	9E-6		0.1	[0.055-0.145] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
617	chr8	4284691	4284692	rs4875102	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	8p23.2	intergenic	rs4875102-A	0.26	4E-7		0.12	[0.073-0.167] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
617	chr8	4285389	4285390	rs1154053	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	8p23.2	intergenic	rs1154053-C	0.17	4E-6		0.13	[0.075-0.185] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
617	chr8	4299882	4299883	rs17070309	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	8p23.2	CSMD1	rs17070309-?		5E-7	(AA)			Illumina [NR]	N
618	chr8	4403585	4403586	rs1983474	25057126	Ramos YF	2014-07-23	J Med Genet	Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.	Osteoarthritis biomarkers	up to 4,654 European ancestry individuals	964 European ancestry individuals	8p23.2	CSMD1	rs1983474-C	0.77	8E-8	(uCTX-II)	0.13	[NR] unit increase	Illumina [up to 1961964] (imputed)	N
618	chr8	4420187	4420188	rs2950160	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	8p23.2	CSMD1	rs2950160-?	NR	6E-6		0.57	unit decrease	NR [at least 1978803] (imputed)	N
618	chr8	4437464	4437465	rs10097669	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	8p23.2	NR	rs10097669-T	0.6734	5E-6	(Total trans-18:1, EA)	0.0461	[0.026-0.066] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
619	chr8	4478343	4478344	rs2616978	25456346	Nievergelt CM	2014-10-30	Psychoneuroendocrinology	Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.	Post-traumatic stress disorder	940 European, Hispanic, Native American, African American, East Asian and other ancestry cases, 2,554 European, Hispanic, Native American, African American, East Asian and other ancestry trauma-exposed controls	313 European ancestry cases, 178 European ancestry trauma-exposed controls	8p23.2	CSMD1	rs2616978-T	0.607	3E-6	(Hispanic)	2.004	[1.71-2.29]	Illumina [21693469] (imputed)	N
619	chr8	4483140	4483141	rs2616984	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	8p23.2	intergenic	rs2616984-?	NR	4E-6	(Digit Span Backward)			Illumina [up to 563855]	N
619	chr8	4560080	4560081	rs7828501	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	8p23.2	CSMD1	rs7828501-G	0.45	1E-13		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
620	chr8	4617809	4617810	rs1379326	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	8p23.2	NR	rs1379326-C	0.26	1E-7		1.78	[1.45-2.19]	Illumina [439828]	N
621	chr8	4833789	4833790	rs7463166	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	8p23.2	CSMD1	rs7463166-A	0.63	1E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
622	chr8	4875171	4875172	rs10112481	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)	64 Japanese ancestry cases, 27 Japanese ancestry controls	NA	8p23.2	LOC100129861	rs10112481-A	0.22	4E-6	(Allelic)	5.12	[2.46-10.6]	Illumina [555600]	N
622	chr8	4926464	4926465	rs1454292	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	8p23.2	AC019176.2	rs1454292-T	NR	8E-6				Illumina [~ 1000000] (imputed)	N
623	chr8	5071411	5071412	rs7816936	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	8p23.2	LOC100287015, CSMD1	rs7816936-A	0.446	6E-6		1.1628	[NR]	Illumina [580699]	N
624	chr8	5227101	5227102	rs77265424	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	8p23.2	intergenic	rs77265424-G	NR	4E-6		0.2223	unit increase	Illumina [5767231] (imputed)	N
625	chr8	5373539	5373540	rs62494762	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	8p23.2	intergenic	rs62494762-C		2E-6		0.3065	unit increase	Illumina [5767231] (imputed)	N
626	chr8	5426530	5426531	rs11777345	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist-hip ratio	up to 19,744 African American individuals	Up to 7,606 African American individuals	8p23.2	CSMD1	rs11777345-C	0.9	3E-6	(BMI_men)	0.19	[0.11-0.27] unit increase	Affymetrix, Illumina [3200000] (imputed)	N
626	chr8	5461752	5461753	rs4875598	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Attention deficit hyperactivity disorder symptoms (interaction)	909 European ancestry trios	NA	8p23.2	intergenic	rs4875598-G	0.34	9E-6	(int, MW)	0.94	[NR] unit decrease	Perlegen [429981]	N
627	chr8	5593809	5593810	rs859812	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	8p23.2	intergenic	rs859812-T	0.5045	2E-6	(Ordinal)	0.2351	[0.14-0.33] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
628	chr8	5764941	5764942	rs2840445	23636237	Tanaka T	2013-05-01	Am J Clin Nutr	Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.	Dietary macronutrient intake	37,537 European ancestry individuals	33,533 European ancestry individuals	8p23.2	NR	rs2840445-A	0.27	5E-6	(Carbohydrate)	0.22	[0.12-0.32] % decrease	Affymetrix, Illumina [2500000] (imputed)	N
631	chr8	6152918	6152919	rs6559140	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	8p23.2	intergenic	rs6559140-A	NR	7E-6		0.2159	unit decrease	Illumina [5767231] (imputed)	N
632	chr8	6202963	6202964	rs114252942	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8p23.1	intergenic	rs114252942-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
633	chr8	6323277	6323278	rs2916733	21799462	Srinivasan Y	2011-07-27	Pharmacogenet Genomics	Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.	Epirubicin-induced leukopenia	67 Japanese ancestry cases, 203 Japanese ancestry controls	48 Japanese ancestry cases	8p23.1	MCPH1	rs2916733-C	0.39	2E-9		2.74	[1.96-3.83]	Illumina [478359]	N
633	chr8	6351251	6351252	rs17077154	21993531	Kuparinen T	2011-10-13	Genes Immun	Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.	Cytomegalovirus antibody response	1,485 European ancestry sero-postitive individuals, 648 European ancestry sero-negative individuals	NA	8p23.1	MCPH1	rs17077154-G	0.07	8E-6		0.302	[0.17-0.43] unit increase	Illumina [546677]	N
633	chr8	6396762	6396763	rs13269021	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	8p23.1	ANGPT2	rs13269021-?		1E-6				Affymetrix, Illumina [1348798]	N
635	chr8	6639239	6639240	rs2936519	26222057	Pander J	2015-07-29	PLoS One	Genome Wide Association Study for Predictors of Progression Free Survival in Patients on Capecitabine, Oxaliplatin, Bevacizumab and Cetuximab in First-Line Therapy of Metastatic Colorectal Cancer.	Progression free survival in metastatic colorectal cancer (CAPOX-B vs CAPOX-B plus cetuximab)	256 cases treated with CAPOX-B plus cetuximab, 264 cases treated with CAPOX-B	NA	8p23.1	intergenic	rs2936519-A	NR	2E-7		1.8867927	[1.49-2.33]	Illumina [2850023] (imputed)	N
636	chr8	6697730	6697731	rs9314614	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-C,rs2738058-T,rs12716641-T	0.246	5E-22		1.257	[NR]	Illumina [3792949] (imputed)	N
636	chr8	6697730	6697731	rs9314614	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-C	0.36	9E-10		1.135	[1.1090-1.1182]	Illumina [3792949] (imputed)	N
636	chr8	6697730	6697731	rs9314614	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-?,rs2738058-?,rs12716641-?	NR	4E-13		1.29	[NR]	Illumina [3792949] (imputed)	N
636	chr8	6697730	6697731	rs9314614	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-?,rs2738058-?,rs12716641-?	NR	1E-7		1.18	[NR]	Illumina [3792949] (imputed)	N
636	chr8	6765031	6765032	rs2702888	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	8p23.1	DEFB1, DEFA6	rs2702888-G	0.65	4E-7	(EA, PP, Age 20-29)	1.36	[0.83-1.89] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
636	chr8	6788101	6788102	rs2003880	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	8p23.1	intergenic	rs2003880-?	NR	4E-6	(Delta power, Cz)	0.062	[0.035-0.089] unit increase	Illumina [527829]	N
637	chr8	6821616	6821617	rs2738058	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-C,rs2738058-T,rs12716641-T	0.246	5E-22		1.257	[NR]	Illumina [3792949] (imputed)	N
637	chr8	6821616	6821617	rs2738058	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-?,rs2738058-?,rs12716641-?	NR	4E-13		1.29	[NR]	Illumina [3792949] (imputed)	N
637	chr8	6821616	6821617	rs2738058	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-?,rs2738058-?,rs12716641-?	NR	1E-7		1.18	[NR]	Illumina [3792949] (imputed)	N
637	chr8	6821616	6821617	rs2738058	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs2738058-T	0.666	2E-27		1.267	[1.214-1.323]	Illumina [3792949] (imputed)	N
637	chr8	6821616	6821617	rs2738058	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	8p23.1	DEFA1	rs2738058-T	0.43	7E-6	(Age 20-60 years)	1.33	[1.18-1.51]	Affymetrix, Illumina [up to 17585496] (imputed)	N
637	chr8	6821616	6821617	rs2738058	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	8p23.1	DEFA1	rs2738058-T	0.43	6E-6	(Age 20-81 years)	1.29	[1.16-1.45]	Affymetrix, Illumina [up to 17585496] (imputed)	N
637	chr8	6822784	6822785	rs2738048	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	NR	rs2738048-A	0.675	5E-9		1.326	[1.215-1.447]	Illumina [3792949] (imputed)	N
637	chr8	6822784	6822785	rs2738048	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	8p23.1	DEFA	rs2738048-T	0.68	1E-7	(East Asian)	1.23	[NR]	Illumina [> 1000000] (imputed)	N
637	chr8	6822784	6822785	rs2738048	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	8p23.1	DEFAs	rs2738048-A	0.68	3E-14		1.27	[1.19-1.35]	Illumina [444882]	N
637	chr8	6829084	6829085	rs2738113	21151130	Painter JN	2010-12-12	Nat Genet	Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.	Endometriosis	3,194 European ancestry cases, 7,060 European ancestry controls	2,392 European ancestry cases, 2,271 European ancestry controls	8p23.1	intergenic	rs2738113-G	0.44	3E-7		1.15	[1.09-1.22]	Illumina [504723]	N
637	chr8	6898997	6898998	rs12716641	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-C,rs2738058-T,rs12716641-T	0.246	5E-22		1.257	[NR]	Illumina [3792949] (imputed)	N
637	chr8	6898997	6898998	rs12716641	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-?,rs2738058-?,rs12716641-?	NR	4E-13		1.29	[NR]	Illumina [3792949] (imputed)	N
637	chr8	6898997	6898998	rs12716641	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs9314614-?,rs2738058-?,rs12716641-?	NR	1E-7		1.18	[NR]	Illumina [3792949] (imputed)	N
637	chr8	6898997	6898998	rs12716641	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8p23.1	DEFA	rs12716641-T	0.743	1E-18		1.233	[1.177-1.292]	Illumina [3792949] (imputed)	N
637	chr8	6900335	6900336	rs10086568	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	8p23.1	DEFA	rs10086568-A	0.33	1E-9		1.16	[NR]	Illumina [> 1000000] (imputed)	N
637	chr8	6933372	6933373	rs117880470	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	8p23.1	NR	rs117880470-?		6E-7	(PCB118)	0.81	[0.5-1.12] unit decrease	Illumina [8736858] (imputed)	N
639	chr8	7189357	7189358	rs9692809	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup-to-disc ratio)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	8p23.1	LOC401447	rs9692809-C	NR	6E-6		0.126	[-0.11704-0.36904] unit decrease	Illumina [~ 2740000] (imputed)	N
639	chr8	7189357	7189358	rs9692809	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	8p23.1	LOC401447	rs9692809-C	NR	8E-6		0.094	[-0.14708-0.33508] unit decrease	Illumina [~ 2740000] (imputed)	N
646	chr8	8098037	8098038	rs2945232	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p23.1	NR	rs2945232-C	NR	2E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
647	chr8	8136655	8136656	rs62495153	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	8p23.1	intergenic	rs62495153-T		8E-6		254.89	[142.78-367] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
649	chr8	8433487	8433488	rs4272382	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	8p23.1	CLDN23	rs4272382-?		2E-6				Affymetrix, Illumina [1348798]	N
649	chr8	8499515	8499516	rs111703385	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	8p23.1	intergenic	rs111703385-A	0.0419	6E-7		3.6248	[3.12-4.13]	Illumina [8809853] (imputed)	N
650	chr8	8577378	8577379	rs13256369	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p23.1	CLDN23	rs13256369-G	0.413	3E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
651	chr8	8717006	8717007	rs332034	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	8p23.1	MFHAS1	rs332034-A	0.85	6E-6	(int, MW)	1.05	[NR] unit increase	Perlegen [429901]	N
651	chr8	8722377	8722378	rs10108954	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	8p23.1	NR	rs10108954-?	NR	7E-6		1.7359	[NR]	Illumina [NR] (imputed)	N
652	chr8	8890097	8890098	rs1045529	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		8p23.1	intergenic	rs1045529-?	.528	3E-6			[NR]	Affymetrix, Illumina [152234]	N
653	chr8	8990576	8990577	rs189798	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		8p23.1	MYP10, PPP1R3B, MIR4660, MIR124-1, MSRA	rs189798-?	0.658	6E-7		1.92	[NR]	Affymetrix, Illumina [152234]	N
653	chr8	8999018	8999019	rs3748140	22832961	Kamboh MI	2012-05-15	Transl Psychiatry	Genome-wide association study of Alzheimer's disease.	Alzheimer's disease	1,291 European ancestry cases, 938 European ancestry controls	509 European ancestry cases, 753 European ancestry controls, 2,218 cases, 2,583 controls	8p23.1	PPP1R3B	rs3748140-?	NR	3E-7		2.43	[NR]	Illumina [2543888] (imputed)	N
653	chr8	9034147	9034148	rs367543	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p23.1	NR	rs367543-T	NR	8E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
654	chr8	9116348	9116349	rs9987353	21775986	Hinch AG	2011-07-20	Nature	The landscape of recombination in African Americans.	Recombination measurement	30,033 African American individuals	NA	8p23.1	intergenic	rs9987353-?	1.0	8E-9	(Hotspot usage)			Affymetrix, Illumina [3058149] (imputed)	N
654	chr8	9159894	9159895	rs330071	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	8p23.1	ERI1, LOC157273, MFHAS1, MIR597, MIR4660, PPP1R3B, U6, TNKS, BC017578	rs330071-G	0.6458	9E-7		1.23	[1.14-1.33]	Illumina [7300000] (imputed)	N
655	chr8	9178267	9178268	rs6984305	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	8p23.1	PPP1R3B	rs6984305-A	0.11	2E-10		2.7	[1.10-4.40] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
655	chr8	9181394	9181395	rs2169387	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	8p23.1	PPP1R3B	rs2169387-G	0.89	3E-16		0.083	[0.063-0.103] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
655	chr8	9183357	9183358	rs9987289	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	8p23.1	PPP1R3B	rs9987289-G	0.9	1E-21		0.097	[0.077-0.117] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
655	chr8	9183357	9183358	rs9987289	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	8p23.1	PPP1R3B	rs9987289-A	0.10	9E-24		0.071	[NR] unit decrease	NR [NR] (imputed)	N
655	chr8	9183357	9183358	rs9987289	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	8p23.1	PPP1R3B	rs9987289-A	0.1	2E-41		0.082	[NR] unit decrease	NR [NR] (imputed)	N
655	chr8	9183357	9183358	rs9987289	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	8p23.1	PPP1R3B	rs9987289-A	0.10	2E-36		0.084	[NR] unit decrease	NR [NR] (imputed)	N
655	chr8	9183357	9183358	rs9987289	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	8p23.1	LOC100129150	rs9987289-A	NR	4E-8	(HDLC-WC)	0.24	[0.16-0.32] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
655	chr8	9183357	9183358	rs9987289	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	HDL Cholesterol - Triglycerides (HDLC-TG)	22,161 European ancestry individuals	NA	8p23.1	LOC100129150	rs9987289-A	NR	1E-8		0.25	[0.17-0.33] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
655	chr8	9183357	9183358	rs9987289	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	8p23.1	PPP1R3B	rs9987289-A	NR	3E-13		0.069	[0.05-0.09] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
655	chr8	9183357	9183358	rs9987289	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	8p23.1	PPP1R3B	rs9987289-T	0.1	7E-15		2.22	[1.65-2.79] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
655	chr8	9183357	9183358	rs9987289	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	8p23.1	PPP1R3B	rs9987289-A	0.09	6E-25		1.21	[0.96-1.46] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
655	chr8	9183357	9183358	rs9987289	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	8p23.1	PPP1R3B	rs9987289-T	0.1	9E-24		3.14	[2.51-3.77] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
655	chr8	9183595	9183596	rs4841132	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	8p23.1	PPP1R3B	rs4841132-G	0.9	4E-20		0.094	[0.074-0.114] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
655	chr8	9183595	9183596	rs4841132	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	8p23.1	PPP1R3B	rs4841132-G	0.91	5E-15	(FCP)	0.0294	[NR] unit decrease	Illumina [up to 945994] (imputed)	N
655	chr8	9183595	9183596	rs4841132	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	8p23.1	PPP1R3B	rs4841132-G	0.91	3E-13	(FPG)	0.0059	[NR] unit decrease	Illumina [up to 945994] (imputed)	N
655	chr8	9183595	9183596	rs4841132	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	8p23.1	PPP1R3B, TNKS	rs4841132-?	0.15	2E-9				Illumina [~ 2000000] (imputed)	N
655	chr8	9183595	9183596	rs4841132	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	8p23.1	PPP1R3B	rs4841132-?		2E-10				Affymetrix, Illumina [~ 2400000] (imputed)	N
655	chr8	9183595	9183596	rs4841132	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	8p23.1	PPP1R3B	rs4841132-?		8E-9				Affymetrix, Illumina [~ 2400000] (imputed)	N
655	chr8	9184230	9184231	rs4240624	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p23.1	NR	rs4240624-G	NR	8E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
655	chr8	9184690	9184691	rs6601299	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	8p23.1	PPP1R3B	rs6601299-T	0.16	6E-9		0.1407	[0.094-0.187] unit decrease	Affymetrix [~ 2740000] (imputed)	N
655	chr8	9185145	9185146	rs2126259	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	HDL cholesterol	1,122 Mexican ancestry hypertriglyceridemia cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry hypertriglyceridemia cases, 1,054 Mexican ancestry controls	8p23.1	PPP1R3B	rs2126259-A	0.39	1E-6		0.11	[0.071-0.149] unit decrease	Illumina [1361436] (imputed)	N
655	chr8	9185145	9185146	rs2126259	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	8p23.1	PPP1R3B	rs2126259-A	0.13	7E-12		0.02	[0.01-0.03] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
655	chr8	9187241	9187242	rs1461729	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	HDL cholesterol	7,917 African American individuals, 3,506 Hispanic individuals	7,138 African American individuals	8p23.1	PPP1R3B	rs1461729-T	0.116	7E-9	(AA)	0.0355	[NR] unit decrease	Affymetrix [NR]	N
655	chr8	9198184	9198185	rs12546962	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8p23.1	LOC157273	rs12546962-G	0.265	4E-6	(EA)	0.016	[0.0093-0.0231] kg/m2 increase	Affymetrix, Illumina [2550021]	N
655	chr8	9198184	9198185	rs12546962	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8p23.1	LOC157273	rs12546962-G	0.262	5E-6		0.016	[0.0089-0.0223] kg/m2 increase	Affymetrix, Illumina [2550021]	N
655	chr8	9257738	9257739	rs10099338	24351856	Nanayakkara S	2013-12-18	J Occup Health	An integrative study of the genetic, social and environmental determinants of chronic kidney disease characterized by tubulointerstitial damages in the North Central Region of Sri Lanka.	Glomerular filtration rate	301 Sri Lankan Sinhalese ancestry cases, 276 Sri Lankan Sinhalese ancestry controls	NA	8p23.1	LOC157273	rs10099338-G	0.10	4E-6		13.28	[NR] unit increase	Illumina [543848]	N
655	chr8	9264710	9264711	rs6601306	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	8p23.1	TNKS	rs6601306-?		4E-6		0.338	[NR] unit increase	Illumina [430487]	N
656	chr8	9395531	9395532	rs6601327	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		8p23.1	NR	rs6601327-G	0.37	8E-6	(HD vs. controls)	1.27	[1.14-1.41]	Illumina [414804]	N
658	chr8	9601698	9601699	rs12545912	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		8p23.1	NR	rs12545912-C	0.24	7E-6	(HD vs. controls)	1.3	[1.16-1.45]	Illumina [414804]	N
658	chr8	9644658	9644659	rs2048656	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p23.1	NR	rs2048656-A	NR	10E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
659	chr8	9745797	9745798	rs17150703	20421936	Scherag A	2010-04-22	PLoS Genet	Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.	Obesity (early onset extreme)	1,138 European ancestry cases, 1,120 European ancestry normal or lean controls	1,181 European ancestry cases, 1,960 European ancestry normal or lean controls, 981 European ancestry cases  and 1,430 European ancestry controls from 715 families	8p23.1	MSRA, TNKS	rs17150703-A	NR	2E-8		1.18	[1.03-1.35]	Affymetrix, Illumina [1596878] (imputed)	N
659	chr8	9789548	9789549	rs11786541	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		8p23.1	intergenic	rs11786541-?	NR	2E-6		1.65	[NR]	Illumina [up to 810372] (imputed)	N
659	chr8	9792661	9792662	rs2055729	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		8p23.1	NR	rs2055729-G	0.33	8E-7	(HD vs. controls)	1.3	[1.17-1.45]	Illumina [414804]	N
659	chr8	9814410	9814411	rs656319	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		8p23.1	intergenic	rs656319-?	.549	3E-6			[NR]	Affymetrix, Illumina [152234]	N
661	chr8	9986654	9986655	rs1484642	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	8p23.1	MSRA	rs1484642-C	NR	3E-6		1.43	[NR]	Affymetrix [745006]	N
661	chr8	10022937	10022938	rs7017212	21679298	Ma X	2011-06-16	Genes Brain Behav	A genome-wide association study for quantitative traits in schizophrenia in China.	Schizophrenia	98 Chinese ancestry cases, 60 Chinese ancestry controls	NA	8p23.1	MSRA	rs7017212-?	.41	4E-6				Illumina [464301]	N
661	chr8	10033424	10033425	rs73191547	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p23.1	LINC00599, MIR124-1, MIR597, MSRA, TNKS	rs73191547-T	NR	4E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
661	chr8	10071619	10071620	rs11775334	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Hypertension	29,136 European ancestry individuals	34,433 European ancestry individuals	8p23.1	MSRA	rs11775334-A	0.32	4E-6		0.08	[0.04-0.12] log odds increase	Affymetrix, Illumina [2533153] (imputed)	N
661	chr8	10086410	10086411	rs6999631	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	8p23.1	MSRA	rs6999631-C	0.965	8E-6		0.09	[0.051-0.129] unit decrease	Illumina [6150213] (imputed)	N
663	chr8	10250047	10250048	rs12541491	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p23.1	NR	rs12541491-T	NR	3E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
663	chr8	10260552	10260553	rs1962073	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		8p23.1	MSRA	rs1962073-?	NR	2E-6		1.69	[NR]	Illumina [up to 810372] (imputed)	N
663	chr8	10334780	10334781	rs11782819	20452100	Kramer PL	2010-05-06	Neurobiol Aging	Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study.	Alzheimer's disease	185 European ancestry low NFT individuals, 114 European ancestry high NFT individuals	NA	8p23.1	MSRA	rs11782819-?	NR	3E-6				Illumina [292175]	N
663	chr8	10352307	10352308	rs4281086	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p23.1	UNQ9391, PRSS55	rs4281086-C	0.304	4E-6	(WC change )	0.04	[NR] cm/y increase	Illumina [899892]	N
664	chr8	10462805	10462806	rs4841398	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p23.1	RP1L1	rs4841398-G	0.16	3E-6	(Cystathionine )	0.02	[NR] umol/L increase	Illumina [899892]	N
665	chr8	10535376	10535377	rs7011192	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide	317 European ancestry cases, 1,233 European ancestry controls	NA	8p23.1	C8orf74	rs7011192-A	0.11	4E-6		2.453	[1.676-3.591]	Illumina [794207]	N
666	chr8	10625245	10625246	rs13271456	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	8p23.1	NR	rs13271456-?	NR	3E-9	(AA)	1.3337	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
666	chr8	10671271	10671272	rs6601530	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	8p23.1	PINX1	rs6601530-G	0.45	2E-8	(cIMT)	0.0078	[0.01-0.01] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
666	chr8	10683928	10683929	rs11776767	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	8p23.1	PINX1	rs11776767-C	0.37	3E-11		0.022	[NR] mg/dL increase	NR [NR] (imputed)	N
666	chr8	10683928	10683929	rs11776767	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	8p23.1	XKR6, PINX1	rs11776767-C	0.37	1E-8		2.01	[1.25-2.77] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
666	chr8	10686536	10686537	rs35660623	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8p23.1	NR	rs35660623-?	NR	5E-6	(AA)	0.5385	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
667	chr8	10813473	10813474	rs6982751	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	8p23.1	XKR6	rs6982751-G		4E-7		1.1878	[1.12-1.25]	Illumina [up to 4972397] (imputed)	N
668	chr8	10958538	10958539	rs2898261	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	8p23.1	XKR6	rs2898261-C	0.58	5E-8		1.35	[NR]	Illumina [1468075]	N
669	chr8	11045160	11045161	rs7819412	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	8p23.1	XKR6, AMAC1L2	rs7819412-G	0.48	3E-8		0.04	[0.001-0.08] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
669	chr8	11104110	11104111	rs7824557	21060863	Ikram MK	2010-10-28	PLoS Genet	Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.	Retinal vascular caliber	15,358 European ancestry individuals	6,652 European ancestry individuals	8p23.1	XKR6, SOX7, GATA4, MTMR9, PINX1	rs7824557-G	0.39	4E-7	(Retinal venular caliber)	1.0	[0.61-1.39] um increase	Affymetrix, Illumina [2194468] (imputed)	N
669	chr8	11119036	11119037	rs2251301	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	8p23.1	intergenic	rs2251301-?	NR	1E-6	(BARS)			Affymetrix [492000]	N
671	chr8	11276541	11276542	rs2002030	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	8p23.1	C8orf12	rs2002030-?	NR	5E-6	(Immediate Story Recall)			Illumina [up to 563855]	N
671	chr8	11330340	11330341	rs17742757	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	8p23.1	NR	rs17742757-C	NR	8E-6	(phenotype 2)	1.64	[NR]	Illumina [> 8000000] (imputed)	N
671	chr8	11340180	11340181	rs7812879	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	8p23.1	BLK	rs7812879-G	0.76	2E-24		1.45	[1.35-1.56]	Illumina [493955]	N
671	chr8	11341879	11341880	rs2736337	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	8p23.1	BLK	rs2736337-C	0.67	2E-7	(East Asian)	1.15	[1.09-1.22]	Affymetrix, Illumina [up to 9739303] (imputed)	N
671	chr8	11341879	11341880	rs2736337	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	8p23.1	BLK	rs2736337-C	0.36	3E-13		1.11	[1.08-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
671	chr8	11341879	11341880	rs2736337	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	8p23.1	BLK	rs2736337-C	0.25	8E-8	(EA)	1.09	[1.06-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
671	chr8	11343679	11343680	rs2254546	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	8p23.1	BLK	rs2254546-G	0.73	2E-13		1.4925		Illumina [2100739] (imputed)	N
671	chr8	11343679	11343680	rs2254546	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	8p23.1	FAM167A, BLK	rs2254546-G	0.72	8E-21		1.85	[1.54-2.23]	Illumina [463793]	N
671	chr8	11343972	11343973	rs2736340	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	8p23.1	BLK	rs2736340-?	NR	1E-8		1.217	[NR]	Illumina [NR]	N
671	chr8	11343972	11343973	rs2736340	22446961	Lee YC	2012-03-25	Nat Genet	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.	Kawasaki disease	622 Han Chinese ancestry cases, 1,107 Han Chinese ancestry controls	261 Han Chinese ancestry cases, 550 Han Chinese ancestry controls	8p23.1	BLK	rs2736340-T	0.722	9E-10		1.538	[1.338-1.767]	Affymetrix [716935]	N
671	chr8	11343972	11343973	rs2736340	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	8p23.1	BLK	rs2736340-T	0.23	3E-7	(anti-dsDNA +)	1.38	[1.23-1.56]	Illumina [421318] (imputed)	N
671	chr8	11343972	11343973	rs2736340	19503088	Gregersen PK	2009-06-07	Nat Genet	REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.	Rheumatoid arthritis	2,418 European ancestry cases, 4,504 European ancestry controls	2,604 cases, 2,882 controls	8p23.1	BLK	rs2736340-A	0.24	6E-9		1.19	[1.13-1.27]	Illumina [278502]	N
671	chr8	11349185	11349186	rs13277113	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	8p23.1	BLK	rs13277113-A	NR	2E-10		1.391	[1.256-1.540]	Illumina [737984]	N
671	chr8	11349185	11349186	rs13277113	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	8p23.1	C8orf13, BLK	rs13277113-A	0.23	1E-10		1.39	[1.28-1.51]	Illumina [502033]	N
671	chr8	11352540	11352541	rs2618476	19165918	Graham RR	2008-08-01	Nat Genet	Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.	Systemic lupus erythematosus	431 European ancestry cases, 2,155 European ancestry controls	447 European ancestry trios, 293 trios	8p23.1	BLK	rs2618476-?	0.26	2E-8		1.29	[NR]	Affymetrix [313238]	N
671	chr8	11359637	11359638	rs1600249	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	8p23.1	BLK	rs1600249-?		5E-6		1.3	[1.16-1.45]	Illumina [441398]	N
671	chr8	11395231	11395232	rs1478897	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	8p23.1	FAM167A, BLK, XKR6, PINX1, MTMR9, SLC35G5, TDH, C8orf12, LINC00208	rs1478897-T	0.337	8E-6		1.56	[NR]	Affymetrix [up to 700598]	N
672	chr8	11409991	11409992	rs2255327	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune response to smallpox vaccine (IL-6)	Up to 512 European ancestry individuals, 199 African American individuals	NA	8p23.1	BLK	rs2255327-A		3E-7	(AA)			Illumina [NR]	N
672	chr8	11480456	11480457	rs2243407	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	8p23.1	LINC00208	rs2243407-?	0.64	6E-6	(Age 20-60 years)	1.33	[1.18-1.49]	Affymetrix, Illumina [up to 17585496] (imputed)	N
672	chr8	11480456	11480457	rs2243407	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	8p23.1	BLK	rs2243407-?	0.65	9E-6	(Age 20-81 years)	1.3	[1.16-1.47]	Affymetrix, Illumina [up to 17585496] (imputed)	N
672	chr8	11480456	11480457	rs2243407	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	8p23.1	BLK	rs2243407-?	0.65	6E-6	(Age 20-60 years)	1.33	[1.18-1.52]	Affymetrix, Illumina [up to 17585496] (imputed)	N
673	chr8	11612697	11612698	rs804280	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		8p23.1	GATA4	rs804280-?	0.406	4E-6			[NR]	Affymetrix, Illumina [152234]	N
673	chr8	11638243	11638244	rs6601606	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	8p23.1	NEIL2	rs6601606-?	NR	1E-6				Illumina [874956]	N
673	chr8	11643914	11643915	rs804292	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Nicotine use	7,188 European ancestry individuals	NA	8p23.1	NEIL2	rs804292-G	0.234	3E-6		6.529	[NR] unit decrease	Illumina [527829]	N
673	chr8	11643914	11643915	rs804292	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Alcohol dependence	7,188 European ancestry individuals	NA	8p23.1	NEIL2	rs804292-G	0.234	2E-6		0.414	[NR] unit decrease	Illumina [527829]	N
673	chr8	11659108	11659109	rs2645430	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	8p23.1	FDFT1	rs2645430-?	NR	4E-7				Affymetrix [5486770] (imputed)	N
674	chr8	11684462	11684463	rs2645424	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	8p23.1	FDFT1	rs2645424-A	0.40	7E-7	(NAS)	0.77	[NR] unit decrease	Illumina [324623]	N
674	chr8	11684462	11684463	rs2645424	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	8p23.1	FDFT1	rs2645424-A	0.40	3E-6		0.3	[NR] unit decrease	Illumina [324623]	N
674	chr8	11698746	11698747	rs1296028	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	8p23.1	intergenic	rs1296028-?	NR	1E-6		1.15	[NR]	Illumina [2500000] (imputed)	N
681	chr8	12691870	12691871	rs17120471	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p22	NR	rs17120471-C	0.101965395991091	6E-6	(IGP63)	0.2366	[0.13-0.34] unit increase	Illumina [~ 2500000] (imputed)	N
681	chr8	12711862	12711863	rs4831837	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Morbidity-free survival	558 individuals	NA	8p22	intergenic	rs4831837-?	NR	5E-7				Affymetrix [70897]	N
682	chr8	12772754	12772755	rs6989010	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	8p22	KIAA1456, LONRF1	rs6989010-?	0.98-0.99	2E-6	(Vegetable)	1.64	[1.33-2]	Affymetrix, Illumina [> 2700000] (imputed)	N
682	chr8	12773255	12773256	rs2977125	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p22	NR	rs2977125-T	NR	4E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
682	chr8	12811151	12811152	rs2946505	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	8p22	intergenic	rs2946505-?	0.78	9E-6		1.06	[1.03-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
682	chr8	12834599	12834600	rs2460905	24677629	Wolf EJ	2014-03-27	Depress Anxiety	A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.	Post-traumatic stress disorder	484 European ancestry trauma-exposed individuals	NA	8p22	KIAA1456	rs2460905-?		5E-6		1.38	[0.79-1.97] unit increase	Illumina [1197702]	N
683	chr8	12892857	12892858	rs113367091	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8p22	NR	rs113367091-?	NR	3E-6	(EA)	0.8257	[0.48-1.17] unit decrease	Illumina [up to 11892802] (imputed)	N
684	chr8	13029876	13029877	rs74834049	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	8p22	DLC1	rs74834049-A	NR	6E-7	(All)	0.12	[0.073-0.167] unit increase	Illumina [6900000] (imputed)	N
684	chr8	13029876	13029877	rs74834049	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	8p22	DLC1	rs74834049-A	NR	6E-10	(Perc15, All)	3.4	[2.34-4.46] unit decrease	Illumina [7600000] (imputed)	N
684	chr8	13054868	13054869	rs75200691	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	8p22	DLC1	rs75200691-T	NR	1E-8	(%LAA-950, All)	0.15	[0.099-0.201] unit increase	Illumina [7600000] (imputed)	N
684	chr8	13058673	13058674	rs2016444	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	8p22	DLC1	rs2016444-G	0.09	9E-7		0.13	[0.079-0.181] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
684	chr8	13058673	13058674	rs2016444	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	8p22	DLC1	rs2016444-G	0.01	1E-12	(EA)	0.292	[0.21-0.37] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
685	chr8	13176406	13176407	rs1671400	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p22	DLC1	rs1671400-A	0.153	4E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
686	chr8	13260535	13260536	rs289585	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder	836 European ancestry cases, 2,093 European ancestry controls	NA	8p22	DLC1	rs289585-?	NR	5E-6		1.45	[NR]	Affymetrix [745006]	N
689	chr8	13738780	13738781	rs10888073	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	8p22	NR	rs10888073-T	NR	5E-6	(AA)	0.0365	(0.02089-0.0521) mg/dl increase	Illumina [up to 509150]	N
692	chr8	14113815	14113816	rs9886428	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p22	NR	rs9886428-G	0.455051607476636	5E-6	(IGP53)	0.1403	[0.08-0.201] unit increase	Illumina [~ 2500000] (imputed)	N
692	chr8	14113815	14113816	rs9886428	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p22	NR	rs9886428-G	0.455051607476636	2E-6	(IGP57)	0.1476	[0.087-0.208] unit increase	Illumina [~ 2500000] (imputed)	N
692	chr8	14113815	14113816	rs9886428	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p22	NR	rs9886428-G	0.455051607476636	2E-6	(IGP55)	0.1472	[0.087-0.207] unit decrease	Illumina [~ 2500000] (imputed)	N
692	chr8	14113815	14113816	rs9886428	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p22	NR	rs9886428-G	0.455051607476636	1E-6	(IGP43)	0.1476	[0.088-0.208] unit decrease	Illumina [~ 2500000] (imputed)	N
692	chr8	14113815	14113816	rs9886428	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p22	NR	rs9886428-G	0.455031556990205	3E-6	(IGP3)	0.1428	[0.083-0.203] unit decrease	Illumina [~ 2500000] (imputed)	N
693	chr8	14173973	14173974	rs6990042	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8p22	SGCZ	rs6990042-G	0.461	8E-7	(EA)	0.016	[0.0095-0.0221] kg/m2 increase	Affymetrix, Illumina [2550021]	N
693	chr8	14173973	14173974	rs6990042	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8p22	SGCZ	rs6990042-G	0.461	5E-6	(EA, men)	0.019	[0.011-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
693	chr8	14173973	14173974	rs6990042	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8p22	SGCZ	rs6990042-G	0.455	4E-7		0.016	[0.0094-0.0216] kg/m2 increase	Affymetrix, Illumina [2550021]	N
694	chr8	14389480	14389481	rs1903595	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	8p22	SGCZ	rs1903595-G	0.303	5E-6	(ephinephrine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
695	chr8	14517293	14517294	rs11203649	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p22	SGCZ	rs11203649-A	0.177	5E-7	(Urinary free epinephrine )	0.05	[NR] nmol/d increase	Illumina [899892]	N
696	chr8	14550155	14550156	rs11989868	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p22	SGCZ	rs11989868-C	0.386	2E-6	(sICAM-1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
698	chr8	14853780	14853781	rs4427170	23594818	Ikeda M	2013-04-17	Neuropsychopharmacology	Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia.	Methamphetamine dependence	236 Japanese ancestry cases, 864 Japanese ancestry controls	NA	8p22	SGCZ, TUSC3, MIR383	rs4427170-T	0.3947	4E-6		1.629	[NR]	Affymetrix [244224]	N
700	chr8	15197416	15197417	rs12676170	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		8p22	NR	rs12676170-A		8E-6		0.054	[NR] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
701	chr8	15325667	15325668	rs2172820	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	8p22	TUSC3	rs2172820-?		2E-6				Affymetrix, Illumina [1348798]	N
703	chr8	15532584	15532585	rs4831760	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	8p22	TUSC3	rs4831760-?	NR	5E-8	(FEV1/FVC decline in asthmatics)	0.222	[0.14-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
704	chr8	15665611	15665612	rs240657	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	8p22	TUSC3	rs240657-?	NR	2E-6	(Average Intelligence)	5.22	[3.10-7.34] unit decrease	Illumina [795637]	N
707	chr8	16058904	16058905	rs13340561	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	8p22	MSR1	rs13340561-G	0.03	9E-6		1.6949153	[1.48-1.91]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
707	chr8	16065556	16065557	rs7002619	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p22	NR	rs7002619-T	NR	4E-6		1.1	[NR]	Illumina [7158791] (imputed)	N
712	chr8	16682745	16682746	rs73201717	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	8p22	intergenic	rs73201717-T	0.159	8E-6		2.08	[1.76-2.40]	Illumina [8809853] (imputed)	N
712	chr8	16697090	16697091	rs591323	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	8p22	FGF20	rs591323-G	0.725	7E-8		1.09	[1.06-1.12]	Illumina [7893274] (imputed)	N
712	chr8	16716347	16716348	rs1521365	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	8p22	FGF20	rs1521365-T	0.06	4E-6	(HRT)	41.3	[23.84-58.76] unit decrease	Illumina [799713]	N
713	chr8	16789234	16789235	rs1523643	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis in asthma	623 European ancestry cases, 1029 Latino cases, 399 African American/Afro-Caribbean cases, 488 European ancestry controls, 545 Latino controls, 162 African American/Afro-Caribbean controls	NA	8p22	FGF20	rs1523643-?	NR	3E-7	(AA)			Affymetrix, Illumina [NR] (imputed)	N
713	chr8	16798122	16798123	rs1094732	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	8p22	RP11-13N12.1	rs1094732-?	NR	9E-6	(Atopic dermatitis)			Affymetrix, Illumina [~ 5200000]	N
714	chr8	16929634	16929635	rs10090288	22064162	Edwards AC	2011-11-05	Psychiatr Genet	Genome-wide association study of comorbid depressive syndrome and alcohol dependence.	Depression and alcohol dependence	467 European ancestry cases, 407 European ancestry controls	NA	8p22	EFHA2	rs10090288-?	NR	8E-6		2.55	[1.69-3.84]	Illumina [876476]	N
714	chr8	16996434	16996435	rs4922265	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	8p22	intergenic	rs4922265-?		7E-6	(AIRg)	2.11	[1.15-3.07] unit increase	Illumina [693128]	N
714	chr8	17036200	17036201	rs17687067	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p22	NR	rs17687067-C	NR	2E-7		1.0752687	[NR]	Illumina [7158791] (imputed)	N
715	chr8	17143829	17143830	rs3793427	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	8p22	VPS37A	rs3793427-?	NR	2E-6	(FWLTA)			Affymetrix [70897]	N
715	chr8	17157676	17157677	rs3764796	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Calcium levels	5,261 European ancestry children, 3,817 African-American ancestry children		8p22	NR	rs3764796-G	NR	4E-6	(EA)	0.06534	[0.038-0.093] mg/dl increase	Illumina [up to 507950]	N
715	chr8	17157676	17157677	rs3764796	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Calcium levels	5,261 European ancestry children, 3,817 African-American ancestry children		8p22	NR	rs3764796-G	NR	2E-6		0.0624	[NR] mg/dl increase	Illumina [up to 507950]	N
716	chr8	17205576	17205577	rs4921542	22137330	Sanchez-Juan P	2011-11-30	Neurobiol Aging	Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.	Creutzfeldt-Jakob disease (variant)	93 European ancestry cases, 1,504 European ancestry controls	42 European ancestry cases	8p22	MTMR7	rs4921542-?	NR	2E-8		3.25	[2.22-4.78]	Affymetrix [287554]	N
716	chr8	17282410	17282411	rs13271465	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p22	ADAM24P	rs13271465-A	0.244	8E-6	(Total glutathione )	0.03	[NR] umol/L increase	Illumina [899892]	N
717	chr8	17329826	17329827	rs2720508	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	8p22	intergenic	rs2720508-C	0.907	7E-6		1.61	[1.31-1.97]	Illumina [948658]	N
717	chr8	17370775	17370776	rs1962772	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	8p22	SLC7A2	rs1962772-T	0.623	9E-7		0.01	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
717	chr8	17392356	17392357	rs2720499	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	8p22	SLC7A2	rs2720499-?	NR	3E-7	(Recessive model)	2.42	unit decrease	Illumina [542562]	N
718	chr8	17461420	17461421	rs13256095	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	8p22	PDGFRL	rs13256095-?		6E-6				Illumina [859311]	N
718	chr8	17462221	17462222	rs7829987	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	8p22	NR	rs7829987-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
720	chr8	17800768	17800769	rs2299587	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	8p22	PCM1	rs2299587-T	NR	9E-7	(Trust)	0.125	[0.074-0.176] unit decrease	Illumina [628922]	N
721	chr8	17858296	17858297	rs34975555	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	8p22	NR	rs34975555-C	NR	5E-6	(phenotype 3)	2.08	[NR]	Illumina [> 8000000] (imputed)	N
722	chr8	17977649	17977650	rs17126232	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	8p22	ASAH1	rs17126232-?	NR	8E-8	(weight)			Illumina [~ 550000]	N
722	chr8	17977649	17977650	rs17126232	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	8p22	ASAH1	rs17126232-?	NR	4E-7	(BMI)			Illumina [~ 550000]	N
722	chr8	17977649	17977650	rs17126232	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	8p22	ASAH1	rs17126232-?	NR	2E-7	(HIP)			Illumina [~ 550000]	N
724	chr8	18233581	18233582	rs7006687	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	8p22	AACP	rs7006687-T	0.57	2E-6	(Sulfonylurea Hypoglycemic agents)			Affymetrix, Illumina [~ 2500000] (imputed)	N
724	chr8	18258315	18258316	rs1208	25798622	Knowles JW	2015-03-23	J Clin Invest	Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene.	Insulin resistance/response	2,764 European ancestry individuals	1,601 Hispanic ancestry individuals, 1,259 European ancestry individuals	8p22	NAT2	rs1208-A	0.57	3E-6				Affymetrix, Illumina [12106458] (imputed)	N
724	chr8	18259365	18259366	rs721399	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	8p22	NAT2	rs721399-T	0.72	4E-58	(4-acetamidobutanoate)	0.029	[0.025-0.033] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
724	chr8	18272376	18272377	rs4921913	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	8p22	NAT2	rs4921913-T	0.78	3E-47	(4-acetamidobutanoate/N1-methyladenosine)	0.036	[0.03-0.042] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
724	chr8	18272437	18272438	rs4921914	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	8p22	NAT2	rs4921914-T	0.78	1E-60	(1-methylxanthine)	0.088	[0.078-0.098] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
724	chr8	18272437	18272438	rs4921914	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	8p22	NAT2	rs4921914-T	0.23	4E-32	(2.1875, Unknown)	0.51	[NR] unit increase	Illumina [713870] (imputed)	N
724	chr8	18272437	18272438	rs4921914	21572414	Suhre K	2011-05-15	Nat Genet	A genome-wide association study of metabolic traits in human urine.	Urinary metabolites	862 European ancestry male individuals	1,862 European ancestry individuals	8p22	NAT2	rs4921914-C	0.23	1E-28	(Formate/succinate ratio)			Affymetrix [645249]	N
724	chr8	18272465	18272466	rs4921915	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	8p22	NAT2	rs4921915-A	0.782	7E-19		0.079	[0.061-0.097] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
724	chr8	18272880	18272881	rs1495741	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	8p22	NAT2	rs1495741-A	0.78	1E-27	(1-methylurate)	0.057	[0.047-0.067] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
724	chr8	18272880	18272881	rs1495741	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	8p22	NAT2	rs1495741-A	0.8	2E-10		1.14	[1.09-1.18]	Illumina [462190]	N
724	chr8	18272880	18272881	rs1495741	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	8p22	NAT2	rs1495741-G	0.26	3E-12		0.04	[NR] mg/dL increase	NR [NR] (imputed)	N
724	chr8	18272880	18272881	rs1495741	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	8p22	NAT2	rs1495741-G	0.26	3E-8		0.032	[NR] unit increase	NR [NR] (imputed)	N
724	chr8	18272880	18272881	rs1495741	20972438	Rothman N	2010-10-24	Nat Genet	A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.	Bladder cancer	3,532 European ancestry cases, 5,120 European ancestry controls	8,381 cases, 48,275 controls	8p22	NAT2	rs1495741-?	0.80	4E-11		1.15	[1.10-1.20]	Illumina [589299]	N
724	chr8	18272880	18272881	rs1495741	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	8p22	NAT2	rs1495741-G	0.22	4E-14		2.97	[2.15-3.79] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
724	chr8	18272880	18272881	rs1495741	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	8p22	NAT2	rs1495741-G	0.32	2E-9		1.07	[0.66-1.48] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
724	chr8	18273299	18273300	rs1495743	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	8p22	NAT2	rs1495743-G	0.188	2E-40	(SM-7 + 11 other traits)	0.256	[NR] unit decrease	Affymetrix, Illumina [534665]	N
725	chr8	18381234	18381235	rs10090117	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		8p22	NAT2, PSD3	rs10090117-G	0.21	4E-6		2.38	[1.64-3.44]	Illumina [518577]	N
725	chr8	18407857	18407858	rs876983	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p22	NR	rs876983-T	NR	9E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
727	chr8	18673730	18673731	rs2638663	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second)	1,015 European ancestry individuals, 541 African American individuals	NA	8p22	NR	rs2638663-?		8E-7	(AA)			Illumina [up to 524000]	N
727	chr8	18707870	18707871	rs7833787	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p22	PSD3	rs7833787-A	0.474	5E-6	(BMD )	0.04	[NR] g/cm2 increase	Illumina [899892]	N
728	chr8	18782046	18782047	rs4921617	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	8p22	PSD3	rs4921617-?	NR	4E-6				Illumina [874956]	N
729	chr8	18922576	18922577	rs2410601	24595857	Sandholm N	2014-03-05	Diabetologia	Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes.	Urinary albumin excretion rate in type 1 diabetes	1,925 European ancestry cases	3,750 European ancestry cases	8p22	SH2D4A, PSD3	rs2410601-G	0.47	4E-6		0.08	[0.04-0.11] unit increase	Illumina [2400000] (imputed)	N
730	chr8	19077829	19077830	rs2683295	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	8p21.3	PSD3, SH2D4A	rs2683295-C	0.25	1E-6	(men)	0.083	[0.05-0.116] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
730	chr8	19083151	19083152	rs17128007	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	8p21.3	SH2D4A	rs17128007-T	0.021	7E-6		4.7991	[NR] unit increase	Illumina [1216189] (imputed)	N
730	chr8	19102563	19102564	rs11787341	24478790	Lee JH	2014-01-17	Front Genet	Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.	Telomere length	4,829 European ancestry individuals from 586 families with exceptional longevity	NA	8p21.3	LOC100128993	rs11787341-A	0.059	9E-7			[NR]	Illumina [9250000] (imputed)	N
732	chr8	19327958	19327959	rs6984449	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	8p21.3	intergenic	rs6984449-A	0.601	1E-6		0.022	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
734	chr8	19539637	19539638	rs7816924	23726668	Hunter AM	2013-05-30	J Psychiatr Res	A genome-wide association study of a sustained pattern of antidepressant response.	Response to antidepressant treatment (citalopram)	869 European, Hispanic, African American, Asian, mixed race and other ancestry sustained response individuals, 247 European, Hispanic, African American, Asian, mixed race and other ancestry unsustained response individuals	394 European ancestry sustained response individuals, 191 European ancestry unsustained response individuals	8p21.3	CSGALNACT1	rs7816924-A	NR	2E-7		2.14	[1.53-2.99]	Affymetrix [430198]	N
734	chr8	19651160	19651161	rs920590	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	8p21.3	INTS10	rs920590-C	0.31	6E-9	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
734	chr8	19651160	19651161	rs920590	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	8p21.3	INTS10	rs920590-C	0.31	2E-6	(ETV6-RUNX1 positive)	1.19	[1.07 - 1.33 ]	Affymetrix [355750]	N
735	chr8	19786890	19786891	rs7816032	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	8p21.3	LPL	rs7816032-?	NR	2E-6	(count)			Perlegen [429981]	N
736	chr8	19813179	19813180	rs264	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	8p21.3	LPL	rs264-A	NR	3E-7		1.1111	[1.06-1.15]	Illumina [575000] (imputed)	N
736	chr8	19813528	19813529	rs268	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	8p21.3	LPL	rs268-G	0.02	2E-12	(HDL)	0.38	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
736	chr8	19816237	19816238	rs295	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome	22,161 European ancestry individuals	NA	8p21.3	LPL	rs295-A	NR	2E-9		0.17	[0.11-0.23] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr8	19816933	19816934	rs301	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	8p21.3	LPL	rs301-C	NR	3E-11	(HDLC-WC)	0.22	[0.16-0.28] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr8	19819327	19819328	rs325	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	8p21.3	LPL	rs325-T	0.89	8E-26		0.05	[0.04-0.06] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
736	chr8	19819438	19819439	rs326	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	Triglycerides	7,601 African American individuals, 3,335 Hispanic individuals	7,138 African American individuals	8p21.3	LPL	rs326-T	0.469	1E-8	(AA)	0.041	[NR] unit decrease	Affymetrix [NR]	N
736	chr8	19819438	19819439	rs326	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	HDL cholesterol	7,917 African American individuals, 3,506 Hispanic individuals	7,138 African American individuals	8p21.3	LPL	rs326-T	0.469	1E-8	(AA)	0.0221	[NR] unit increase	Affymetrix [NR]	N
736	chr8	19819438	19819439	rs326	18193046	Kooner JS	2008-01-13	Nat Genet	Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.	Triglycerides	1,005 European ancestry male individuals, 1,006 Indian Asian ancestry male individuals	6,827 European ancestry individuals, 2,528 Mexican ancestry individuals, 1,181 Indian Asian ancestry female individuals	8p21.3	SLC18A1, LPL, C8orf35	rs326-A	0.78	5E-12		6.6	[3.66-9.54] % increase	Perlegen [up to 216774]	N
736	chr8	19819723	19819724	rs328	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	8p21.3	LPL	rs328-G	0.09	3E-10	(TG)	0.071	[0.026-0.116] mmol/L decrease	Affymetrix, Illumina [up to 2249917] (imputed)	N
736	chr8	19819723	19819724	rs328	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	8p21.3	LPL	rs328-G	0.09	2E-14	(HDL)	0.04	[0.020-0.060] mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
736	chr8	19819723	19819724	rs328	22171074	Tan A	2011-12-30	Hum Mol Genet	A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.	Triglycerides	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	8p21.3	LPL	rs328-?	NR	1E-9				Illumina [1940243] (imputed)	N
736	chr8	19819723	19819724	rs328	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	HDL cholesterol	2,758 individuals	18,544 individuals	8p21.3	LPL	rs328-G	0.09	9E-23		0.17	[0.13-0.21] percentage SD increase	Affymetrix [389878]	N
736	chr8	19819723	19819724	rs328	18193044	Kathiresan S	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	Triglycerides	2,758 individuals	18,544 individuals	8p21.3	LPL	rs328-G	0.09	2E-28		0.19	[0.15-0.23] percentage SD decrease	Affymetrix [389878]	N
736	chr8	19819723	19819724	rs328	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Triglycerides	Up to 5,217 European ancestry individuals	NA	8p21.3	LPL	rs328-T	0.10	5E-7	(TG)	1.0	% variance	Affymetrix [386731]	N
736	chr8	19820404	19820405	rs331	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	8p21.3	LPL	rs331-?	NR	3E-14	(HDL-C.assay, fasting)	1.51	[NR] unit increase	Illumina [335603]	N
736	chr8	19820404	19820405	rs331	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	8p21.3	LPL	rs331-?	NR	1E-17	(HDL-C.assay, whole)	1.459	[NR] unit increase	Illumina [335603]	N
736	chr8	19820404	19820405	rs331	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	8p21.3	LPL	rs331-?	NR	1E-14	(HDL-C.by.NMR, whole)	1.21	[NR] unit increase	Illumina [335603]	N
736	chr8	19820404	19820405	rs331	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	8p21.3	LPL	rs331-?	NR	1E-11	(HDL-C.by.NMR, fasting)	1.256	[NR] unit increase	Illumina [335603]	N
736	chr8	19824491	19824492	rs13702	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	HDL Cholesterol - Triglycerides (HDLC-TG)	22,161 European ancestry individuals	NA	8p21.3	LPL	rs13702-A	NR	1E-16		0.29	[0.23-0.35] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr8	19824562	19824563	rs1059611	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	8p21.3	LPL	rs1059611-?	NR	2E-17	(TG.by.NMR, fasting)	0.065	[NR] unit decrease	Illumina [335603]	N
736	chr8	19824562	19824563	rs1059611	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	8p21.3	LPL	rs1059611-?	NR	1E-20	(VLDL.medium, fasting)	2.875	[NR] unit decrease	Illumina [335603]	N
736	chr8	19824666	19824667	rs15285	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Triglycerides-Blood Pressure (TG-BP)	22,161 European ancestry individuals	NA	8p21.3	LPL	rs15285-A	NR	1E-10		0.27	[0.19-0.35] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr8	19826372	19826373	rs2197089	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	8p21.3	LPL	rs2197089-C	NR	2E-9	(TG-GLUC)	0.18	[0.12-0.24] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr8	19827847	19827848	rs10105606	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	8p21.3	LPL	rs10105606-C	0.68	4E-26		0.07	[0.06-0.08] increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
736	chr8	19830920	19830921	rs10096633	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	8p21.3	LPL	rs10096633-T	0.43	2E-9		0.101	[0.068-0.134] unit increase	Affymetrix [~ 2740000] (imputed)	N
736	chr8	19830920	19830921	rs10096633	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Triglycerides	8,993 Japanese ancestry individuals	NA	8p21.3	LPL	rs10096633-T	0.12	9E-14		0.169	[0.12-0.21] unit decrease	Illumina [561583]	N
736	chr8	19830920	19830921	rs10096633	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Triglycerides	17,100 European ancestry individuals, 715 Orcadian individuals	NA	8p21.3	LPL	rs10096633-G	0.88	2E-18		0.17	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
736	chr8	19830920	19830921	rs10096633	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	8p21.3	LPL	rs10096633-A	0.098	5E-8	(TG)	0.12	[0.07-0.17] mmol/l decrease	Illumina [329091]	N
736	chr8	19832645	19832646	rs17482753	24023261	Keller M	2013-09-10	J Lipid Res	THOC5: a novel gene involved in HDL-cholesterol metabolism.	Lipid traits	839 European ancestry individuals	up to 5,248 European ancestry individuals	8p21.3	LPL	rs17482753-T	0.09	6E-10	(Triglycerides)	0.24	unit decrease	Affymetrix [390619]	N
736	chr8	19832645	19832646	rs17482753	20031538	Heid IM	2008-10-01	Circ Cardiovasc Genet	Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.	HDL cholesterol	Up to 4,274 European ancestry individuals	Up to 15,873 European ancestry individuals	8p21.3	LPL	rs17482753-T	0.11	3E-11		2.02	[NR] mg/dl increase	Affymetrix [up to 2557253] (imputed)	N
736	chr8	19844221	19844222	rs12678919	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	8p21.3	LPL	rs12678919-G	0.13	2E-199		0.17	[NR] mg/dL decrease	NR [NR] (imputed)	N
736	chr8	19844221	19844222	rs12678919	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	8p21.3	LPL	rs12678919-G	0.13	1E-149		0.155	[NR] unit increase	NR [NR] (imputed)	N
736	chr8	19844221	19844222	rs12678919	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	8p21.3	LPL	rs12678919-?	0.09	9E-13				Illumina [~ 2000000] (imputed)	N
736	chr8	19844221	19844222	rs12678919	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	8p21.3	LPL	rs12678919-G	0.12	2E-115		13.64	[12.37-14.91] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
736	chr8	19844221	19844222	rs12678919	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	8p21.3	LPL	rs12678919-G	0.12	1E-97		2.25	[2.01-2.49] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
736	chr8	19844221	19844222	rs12678919	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	8p21.3	LPL	rs12678919-G	0.18	9E-6	(HDL)	0.125	[0.070-0.180] unit increase	Illumina [561583]	N
736	chr8	19844221	19844222	rs12678919	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	8p21.3	LPL	rs12678919-G	0.10	2E-41		0.25	[0.19-0.31] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
736	chr8	19844221	19844222	rs12678919	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	8p21.3	LPL	rs12678919-G	0.10	2E-34		0.23	[0.17-0.29] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
736	chr8	19845375	19845376	rs7841189	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	8p21.3	LPL	rs7841189-C	0.90	1E-14	(TG)	0.18	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
736	chr8	19847689	19847690	rs10503669	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Triglycerides	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	8p21.3	LPL	rs10503669-T	0.12	7E-39		0.0857	[0.073-0.098] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
736	chr8	19847689	19847690	rs10503669	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	HDL cholesterol	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	8p21.3	LPL	rs10503669-T	0.12	8E-43		0.0426	[0.037-0.049] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
736	chr8	19847689	19847690	rs10503669	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	Triglycerides	8,684 European ancestry individuals	9,741 European ancestry individuals	8p21.3	LPL	rs10503669-C	0.90	4E-22		11.57	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
736	chr8	19847689	19847690	rs10503669	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	8p21.3	LPL	rs10503669-A	0.1	4E-19		2.09	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
736	chr8	19848079	19848080	rs17410962	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	Triglycerides	7,601 African American individuals, 3,335 Hispanic individuals	7,138 African American individuals	8p21.3	LPL	rs17410962-G	0.112	7E-9	(Hispanic)	0.1064	[NR] unit decrease	Affymetrix [NR]	N
736	chr8	19849756	19849757	rs17091905	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	8p21.3	LPL	rs17091905-A	0.124	6E-12	(HDL)	0.15	[0.11-0.19] mmol/l increase	Illumina [NR] (imputed)	N
736	chr8	19849756	19849757	rs17091905	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	8p21.3	LPL	rs17091905-A	0.12	5E-15	(TRIG)	0.174	[0.13-0.22] mmol/l decrease	Illumina [NR] (imputed)	N
736	chr8	19860459	19860460	rs79236614	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Triglycerides	1,678 Mexican ancestry high triglyceride cases, 1,645 Mexican ancestry low triglyceride controls	2,129 Mexican ancestry high triglyceride cases, 2,985 Mexican ancestry low triglyceride controls, 903 Mexican ancestry individuals from 73 dyslipidemic families	8p21.3	SLC18A1, LPL	rs79236614-?	NR	7E-9		1.89	[1.49-2.38]	Illumina [1661241] (imputed)	N
736	chr8	19865174	19865175	rs2083637	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	8p21.3	LPL	rs2083637-G	0.24	2E-10	(HDL)	0.04	[0.02-0.05] mmol/l increase	Illumina [308011]	N
736	chr8	19865174	19865175	rs2083637	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	8p21.3	LPL	rs2083637-G	0.26	6E-18		0.11	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
736	chr8	19865174	19865175	rs2083637	18454146	Chambers JC	2008-05-04	Nat Genet	Common genetic variation near MC4R is associated with waist circumference and insulin resistance.	Waist circumference and related phenotypes	2,684 Indian Asian ancestry male individuals	7,394 Indian Asian ancestry individuals, 4,561 European ancestry individuals	8p21.3	LPL	rs2083637-?	NR	5E-6	(HDL cholesterol)			Illumina [308067]	N
736	chr8	19868385	19868386	rs1441756	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	8p21.3	LPL	rs1441756-G	NR	3E-8	(BP-HDLC)	0.18	[0.12-0.24] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr8	19876745	19876746	rs7016880	20657596	Johansen CT	2010-07-25	Nat Genet	Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.	Hypertriglyceridemia	463 European ancestry cases, 1,197 European ancestry controls	NA	8p21.3	LPL	rs7016880-?	0.90	2E-7		3.13	[2.04-4.76]	Affymetrix [~ 2100000] (imputed)	N
736	chr8	19912369	19912370	rs115849089	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	8p21.3	LPL	rs115849089-G	0.89	9E-84		0.186	[0.17-0.21] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
736	chr8	19912369	19912370	rs115849089	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	8p21.3	LPL	rs115849089-A	0.11	2E-63		0.162	[0.14-0.18] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
736	chr8	19912369	19912370	rs115849089	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	8p21.3	LPL	rs115849089-?	NR	4E-15	(M-VLDL-PL)	0.22	[0.16-0.28] unit decrease	Illumina [~ 7700000] (imputed)	N
737	chr8	19928581	19928582	rs9644568	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	Hypertriglyceridemia	1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls	8p21.3	SLC18A1, INTS10, LPL	rs9644568-?	0.93	4E-11		2.0	[1.80-2.20]	Illumina [1361436] (imputed)	N
737	chr8	19949197	19949198	rs77913157	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8p21.3	NR	rs77913157-?	NR	6E-7		0.352	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
737	chr8	19987702	19987703	rs10503672	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	8p21.3	intergenic	rs10503672-T	0.26	3E-6	(Meta)			Illumina [254145]	N
738	chr8	20066048	20066049	rs1106634	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	8p21.3	NR	rs1106634-?	NR	4E-6		1.344	[NR]	Affymetrix [722112]	N
738	chr8	20066048	20066049	rs1106634	20038947	Shyn SI	2009-12-29	Mol Psychiatry	Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.	Major depressive disorder (broad)	3,957 European ancestry cases, 3,428 European ancestry controls	NA	8p21.3	SLC18A1, ATP6V1B2, LZTS1	rs1106634-A	0.14	7E-7		1.3	[NR]	Affymetrix, Perlegen [2391203] (imputed)	N
738	chr8	20081889	20081890	rs1390943	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		8p21.3	ATP6V1B2, LZTS1	rs1390943-G	0.33	9E-7		0.05	[0.03-0.07] unit decrease	Affymetrix, Illumina [2397181]	N
739	chr8	20246757	20246758	rs17412740	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	8p21.3	LZTS1	rs17412740-?	NR	2E-6	(Hispanic)	6.08	[2.88-12.81]	Illumina [2485249] (imputed)	N
739	chr8	20301436	20301437	rs4922199	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	8p21.3	LZTS1	rs4922199-?	NR	8E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
740	chr8	20336572	20336573	rs10111661	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	8p21.3	LZTS1	rs10111661-?	NR	2E-6	(DMFS5max,DMFS5)			Illumina [518997]	N
742	chr8	20592508	20592509	rs11985951	24700089	Miura K	2014-04-04	J Med Virol	Genome-wide association study of HPV-associated cervical cancer in Japanese women.	Cervical cancer	226 Japanese ancestry cases, 186 Japanese ancestry controls	NA	8p21.3	intergenic	rs11985951-T	0.871	6E-6		3.36	[1.94-5.83]	Affymetrix [556045]	N
742	chr8	20626320	20626321	rs2122469	23151678	Takata R	2012-11-15	J Hum Genet	Impact of four loci on serum tamsulosin hydrochloride concentration.	Serum tamsulosin hydrochloride concentration	182 Japanese ancestry individuals	NA	8p21.3	intergenic	rs2122469-C	0.02	7E-7		18.57	[11.49-25.65] unit increase	Illumina [481678]	N
742	chr8	20634749	20634750	rs13328379	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	8p21.3	LOC286114	rs13328379-T	0.14	8E-7	(Commissions)	3.41	[2.06-4.76] unit decrease	Illumina [799713]	N
744	chr8	20967550	20967551	rs7015657	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	8p21.3	GFRA2	rs7015657-G	0.3	8E-8		1.15	[1.09-1.21]	Affymetrix, Illumina [~ 2300000] (imputed)	N
746	chr8	21156592	21156593	rs6586977	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8p21.3	LOC100129163, GFRA2	rs6586977-G	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
746	chr8	21190267	21190268	rs2066940	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	8p21.3	NR	rs2066940-T	0.611	8E-6	(EA)	0.044	[0.024-0.064] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
747	chr8	21321003	21321004	rs12682527	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p21.3	NR	rs12682527-C	NR	5E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
748	chr8	21484456	21484457	rs1480997	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	8p21.3	intergenic	rs1480997-?	NR	8E-6		0.0558	[0.031-0.080] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
749	chr8	21506667	21506668	rs59294057	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8p21.3	LOC100129163, GFRA2	rs59294057-C	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
749	chr8	21520247	21520248	rs4292676	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	8p21.3	GFRA2, DOK2	rs4292676-T	0.39	2E-6	(CERAD-dr)	0.2708	[0.16-0.38] unit increase	Affymetrix, Illumina [NR] (imputed)	N
750	chr8	21662444	21662445	rs17581368	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Entorhinal cortical thickness	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	8p21.3	DOK2	rs17581368-?	NR	7E-6		0.09	[NR] unit decrease	Illumina [478011]	N
750	chr8	21711430	21711431	rs17428041	24974787	Meng W	2014-06-26	Eur J Pain	A genome-wide association study suggests an association of Chr8p21.3 (GFRA2) with diabetic neuropathic pain.	Neuropathic pain in type 2 diabetes	572 European ancestry cases, 2,491 European ancestry controls	NA	8p21.3	DOK2, GFRA2	rs17428041-T	0.7092	2E-7		1.49	[NR]	Affymetrix, Illumina [6494962] (imputed)	N
751	chr8	21820812	21820813	rs7843479	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	8p21.3	DOK2, XPO7	rs7843479-A	0.29	3E-8		0.072	[0.047-0.097] unit increase	Illumina [561583]	N
751	chr8	21884543	21884544	rs11776272	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p21.3	NPM2	rs11776272-G	0.18	5E-6	(Birth weight )	0.05	[NR] kg increase	Illumina [899892]	N
752	chr8	21978371	21978372	rs76547188	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p21.3	HR	rs76547188-A	0.0050	5E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
753	chr8	22088431	22088432	rs12541335	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	Hypertriglyceridemia	1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls	8p21.3	SFTPC, REEP4, POLR3D, PIWIL2, PHYHIP, LGI3, BMP1	rs12541335-G	0.66	7E-6		1.23	[1.13-1.33]	Illumina [1361436] (imputed)	N
754	chr8	22264333	22264334	rs7828089	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	8p21.3	SLC39A14, PPP3CC	rs7828089-G	0.48	2E-6	(ALL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
754	chr8	22264333	22264334	rs7828089	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	8p21.3	SLC39A14, PPP3CC	rs7828089-G	0.48	2E-6	(ALL-dr)			Affymetrix, Illumina [NR] (imputed)	N
755	chr8	22400988	22400989	rs4872511	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	8p21.3	PPP3CC	rs4872511-?	0.01	9E-6				Illumina [1212217]	N
755	chr8	22404839	22404840	rs2280890	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	8p21.3	SORBS3	rs2280890-?	0.01	9E-6				Illumina [1212217]	N
756	chr8	22462851	22462852	rs11778693	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	8p21.3	KIAA1967	rs11778693-?	NR	8E-6		1.949	[1.13-2.77] unit decrease	Illumina [498648]	N
756	chr8	22462851	22462852	rs11778693	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	8p21.3	KIAA1967	rs11778693-?	NR	4E-6		1.249	[0.74-1.76] unit decrease	Illumina [498648]	N
756	chr8	22501829	22501830	rs4242434	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	8p21.3	BIN3	rs4242434-?	NR	8E-6		1.216	[0.7-1.73] unit decrease	Illumina [498648]	N
757	chr8	22619550	22619551	rs11998649	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	8p21.3	PEBP4	rs11998649-A	0.19	7E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
757	chr8	22643706	22643707	rs12155789	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	8p21.3	intergenic	rs12155789-G	0.144	1E-6		0.147	[0.088-0.206] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
758	chr8	22763247	22763248	rs6557600	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	8p21.3	NR	rs6557600-A	0.2273	1E-6		0.13	[0.076-0.18] unit decrease	Affymetrix, Illumina [2403520] (imputed)	N
760	chr8	22938660	22938661	rs57302454	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	8p21.3	NR	rs57302454-?	NR	6E-7				Affymetrix [5486770] (imputed)	N
760	chr8	22962347	22962348	rs4077341	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	8p21.3	NR	rs4077341-?	NR	8E-6		1.693	[0.98-2.41] unit decrease	Illumina [498648]	N
761	chr8	23082970	23082971	rs13278062	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	8p21.3	TNFRSF10A	rs13278062-T	0.48	3E-15		1.15	[1.12-1.19]	Affymetrix, Illumina [2442884] (imputed)	N
761	chr8	23082970	23082971	rs13278062	21909106	Arakawa S	2011-09-11	Nat Genet	Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.	Age-related macular degeneration	827 Japanese ancestry cases, 3,323 Japanese ancestry controls	709 Japanese ancestry cases, 15,571 Japanese ancestry controls	8p21.3	TNFRSF10A, LOC389641	rs13278062-T	0.35	1E-12		1.37	[1.25-1.49]	Illumina [457489]	N
761	chr8	23101619	23101620	rs7463256	20732625	Neale BM	2010-08-01	J Am Acad Child Adolesc Psychiatry	Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	2,064 European ancestry trios, 896 European ancestry cases, 2,455 European ancestry controls	NA	8p21.3	TNFRSF10A, CHMP7, TNFRSF10D, LOXL2	rs7463256-T	NR	3E-6				Affymetrix, Illumina, Perlegen [1206462] (imputed)	N
764	chr8	23507261	23507262	rs142463603	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8p21.2	NR	rs142463603-A	0.417	4E-16		1.18	[1.13-1.22]	Affymetrix [up to 19977088] (imputed)	N
764	chr8	23526462	23526463	rs1512268	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	8p21.2	NKX3-1	rs1512268-T	NR	1E-13		1.3157895	[NR]	Illumina [4550396] (imputed)	N
764	chr8	23526462	23526463	rs1512268	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8p21.2	NR	rs1512268-A	0.43	4E-15		1.17	[1.12-1.22]	Affymetrix [up to 19977088] (imputed)	N
764	chr8	23526462	23526463	rs1512268	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8p21.2	NR	rs1512268-A	0.43	2E-12	(European)	1.17	[1.12-1.22]	Affymetrix [up to 19977088] (imputed)	N
764	chr8	23526462	23526463	rs1512268	22923026	Cheng I	2012-08-24	Cancer Epidemiol Biomarkers Prev	Evaluating genetic risk for prostate cancer among Japanese and Latinos.	Prostate cancer	1,033 Japanese ancestry cases, 1,042 Japanese ancestry controls, 1,043 Latino cases, 1,057 Latino controls	1,583 Japanese ancestry cases, 3,386 Japanese ancestry  controls, 1,854 European ancestry cases, 3,748 European ancestry controls	8p21.2	NR	rs1512268-T	0.36	5E-6	(Japanese)	1.35	[1.19-1.53]	Illumina [528023]	N
764	chr8	23526462	23526463	rs1512268	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	8p21.2	NKX3.1	rs1512268-?	NR	4E-11				Illumina [510687]	N
764	chr8	23526462	23526463	rs1512268	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	8p21.2	NKX3.1	rs1512268-?	0.45	3E-30		1.18	[1.14-1.22]	Illumina [541129]	N
764	chr8	23534017	23534018	rs10503733	22923026	Cheng I	2012-08-24	Cancer Epidemiol Biomarkers Prev	Evaluating genetic risk for prostate cancer among Japanese and Latinos.	Prostate cancer	1,033 Japanese ancestry cases, 1,042 Japanese ancestry controls, 1,043 Latino cases, 1,057 Latino controls	1,583 Japanese ancestry cases, 3,386 Japanese ancestry  controls, 1,854 European ancestry cases, 3,748 European ancestry controls	8p21.2	NR	rs10503733-T	NR	8E-8	(Japanese and Latin American)	1.29	NR	Illumina [528023]	N
764	chr8	23584225	23584226	rs13273073	22310353	Man M	2012-02-07	Pharmacogenomics J	Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.	Treatment response for severe sepsis	1,446 individuals	NA	8p21.2	NKX2-6	rs13273073-?	NR	7E-6	(GT vs. not GT)			Illumina [856627]	N
765	chr8	23603323	23603324	rs7830933	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	8p21.2	NKX2, 6	rs7830933-A	0.7673	7E-8	(EA)	0.0217	[0.014-0.03] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
765	chr8	23603323	23603324	rs7830933	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	8p21.2	NKX2, 6	rs7830933-A	0.7668	1E-12	(EA, women)	0.0374	[0.027-0.048] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
765	chr8	23603323	23603324	rs7830933	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	8p21.2	NKX2, 6	rs7830933-A	0.7646	3E-6		0.0182	[0.011-0.026] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
765	chr8	23603323	23603324	rs7830933	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	8p21.2	NKX2, 6	rs7830933-A	0.7644	1E-11	(women)	0.0349	[0.025-0.045] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
765	chr8	23636280	23636281	rs218869	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (everolimus)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	8p21.2	intergenic	rs218869-?	NR	4E-6		0.29	[NR] unit increase	Affymetrix, Illumina [1348798]	N
765	chr8	23643488	23643489	rs310272	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	8p21.2	NR	rs310272-C	0.3718	6E-6		0.1	[0.06-0.15] unit increase	Affymetrix, Illumina [2403520] (imputed)	N
766	chr8	23751150	23751151	rs10109414	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	8p21.2	STC1	rs10109414-T	0.42	1E-8	(eGFRcrea)			Affymetrix, Illumina [~ 2500000] (imputed)	N
766	chr8	23777005	23777006	rs17786744	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	8p21.2	STC1	rs17786744-A	0.58	1E-8		0.029	[0.019-0.039] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
766	chr8	23818686	23818687	rs7833268	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	8p21.2	STC1	rs7833268-C	0.13	6E-7	(women)			Affymetrix, Illumina [2500000] (imputed)	N
768	chr8	24044300	24044301	rs11777116	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	8p21.2	intergenic	rs11777116-T	0.08	6E-8		1.27	[1.17-1.39]	Affymetrix, Illumina [~ 2300000] (imputed)	N
768	chr8	24116303	24116304	rs1013209	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	8p21.2	ADAM28	rs1013209-T	0.25	2E-9		0.025	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
770	chr8	24378740	24378741	rs11781622	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	8p21.2	ADAM7	rs11781622-?	0.14	3E-6				Illumina [565404]	N
773	chr8	24734676	24734677	rs196889	25562672	Byrne EM	2014-12-09	J Clin Psychiatry	Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.	Seasonality	3,269 European ancestry individuals	887 Old order Amish individuals	8p21.2	OTTHUMG00000163790	rs196889-T	NR	6E-6		0.68	[0.39-0.97] unit increase	Affymetrix, Illumina [2354422] (imputed)	N
774	chr8	24799741	24799742	rs6557786	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	8p21.2	NEFL	rs6557786-?	NR	5E-6	(Hispanic)	23.2	[NR]	Illumina [936149]	N
777	chr8	25196709	25196710	rs13267838	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	8p21.2	DOCK5	rs13267838-?		4E-6	(M)	54.96	[33.48-76.44] unit increase	Illumina [693128]	N
779	chr8	25544678	25544679	rs9314308	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	8p21.2	NR	rs9314308-C	NR	9E-6	(phenotype 3)	1.55	[NR]	Illumina [> 8000000] (imputed)	N
782	chr8	25892141	25892142	rs11135910	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	8p21.2	EBF2	rs11135910-A	0.16	8E-11		1.11	[1.07-1.16]	Illumina [~ 2600000] (imputed)	N
784	chr8	26206076	26206077	rs1594829	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	8p21.2	PPP2R2A	rs1594829-C	0.77	4E-8		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
785	chr8	26269190	26269191	rs1042992	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p21.2	NR	rs1042992-T	NR	2E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
788	chr8	26714873	26714874	rs13278849	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	8p21.2	ADRA1A	rs13278849-A	0.73	3E-11	(levulinate (4-oxovalerate))	0.013	[0.0091-0.0169] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
788	chr8	26718879	26718880	rs4732957	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	8p21.2	ADRA1A	rs4732957-?	NR	7E-6	(SF8)			Affymetrix [5476100] (imputed)	N
790	chr8	26894543	26894544	rs7461897	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	8p21.2	MIR548H4	rs7461897-?	0.08	5E-7		4.1	[NR]	Affymetrix [4893794] (imputed)	N
790	chr8	26922111	26922112	rs17060993	24375517	Lohmann K	2013-12-26	Mov Disord	Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?	Musician's dystonia	127 European ancestry cases, 984 European ancestry controls	116 European ancestry cases, 125 European ancestry controls	8p21.2	NR	rs17060993-?	0.03	2E-6		2.7	[1.80-4.06]	Affymetrix [557620]	N
791	chr8	27076597	27076598	rs1446682	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	8p21.2	NR	rs1446682-?	NR	6E-6		1.2633	[NR]	Affymetrix [722112]	N
792	chr8	27195120	27195121	rs28834970	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	8p21.2	PTK2B	rs28834970-C	0.366	7E-14		1.1	[1.08-1.13]	Illumina [7055881] (imputed)	N
792	chr8	27227553	27227554	rs17057051	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	8p21.2	PTK2B, TRIM35, EPHX2	rs17057051-A	0.69	6E-8	(EA)	1.060473		Affymetrix, Illumina [~ 9000000] (imputed)	N
792	chr8	27227553	27227554	rs17057051	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	8p21.2	PTK2B, TRIM35, EPHX2	rs17057051-G	0.69	2E-6	(EA)	1.0649383		Affymetrix, Illumina [~ 9000000] (imputed)	N
793	chr8	27316116	27316117	rs2271920	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	8p21.2	PTK2B	rs2271920-A	0.39	8E-6		1.11	[1.06-1.16]	NR [NR]	N
793	chr8	27328020	27328021	rs2565065	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p21.2	NR	rs2565065-A	NR	2E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
793	chr8	27337790	27337791	rs2741335	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	8p21.2	CHRNA2	rs2741335-?	NR	8E-6	(Additive model)	0.28	unit decrease	Illumina [542562]	N
794	chr8	27416800	27416801	rs17057381	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	8p21.1	PTK2B, EPHX2	rs17057381-?	NR	4E-7	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
794	chr8	27442126	27442127	rs73229090	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p21.1	NR	rs73229090-C	NR	2E-8		1.098901	[NR]	Illumina [7158791] (imputed)	N
794	chr8	27442126	27442127	rs73229090	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	8p21.1	CLU, EPHX2	rs73229090-C	0.884	2E-8		1.1013216	[1.06-1.14]	Affymetrix, Illumina [9005918] (imputed)	N
794	chr8	27452846	27452847	rs17466684	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	8p21.1	CLU	rs17466684-?	0.09	7E-7				Affymetrix [253903]	N
794	chr8	27456252	27456253	rs2279590	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	8p21.1	CLU	rs2279590-C	0.6	2E-6		1.1235955	[1.08-1.18]	NR [NR]	N
794	chr8	27456252	27456253	rs2279590	19734903	Lambert JC	2009-09-06	Nat Genet	Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.	Alzheimer's disease	2,032 European ancestry cases, 5,328 European ancestry controls	3,978 European ancestry cases, 3,297 European ancestry controls	8p21.1	CLU	rs2279590-?,rs11136000-?,rs9331888-?	0.26	6E-10	(CCG)	1.22	[1.14-1.29]	Illumina [537029]	N
794	chr8	27464518	27464519	rs11136000	19734903	Lambert JC	2009-09-06	Nat Genet	Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.	Alzheimer's disease	2,032 European ancestry cases, 5,328 European ancestry controls	3,978 European ancestry cases, 3,297 European ancestry controls	8p21.1	CLU	rs2279590-?,rs11136000-?,rs9331888-?	0.26	6E-10	(CCG)	1.22	[1.14-1.29]	Illumina [537029]	N
794	chr8	27464518	27464519	rs11136000	19734902	Harold D	2009-09-06	Nat Genet	Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.	Alzheimer's disease	3,941 European ancestry cases, 7,848 European ancestry controls	2,023 European ancestry cases, 2,340 European ancestry controls	8p21.1	CLU	rs11136000-?	0.60	9E-10		1.16	[1.11-1.22]	Illumina [529205]	N
794	chr8	27466314	27466315	rs1532278	21460841	Naj AC	2011-04-03	Nat Genet	Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	8,309 European ancestry cases, 7,366 European ancestry controls	10,523 European ancestry cases, 28,231 European ancestry controls	8p21.1	CLU	rs1532278-?	0.64	8E-8		1.12	[1.08-1.18]	Affymetrix, Illumina [2324889] (imputed)	N
794	chr8	27467685	27467686	rs9331896	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	8p21.1	CLU	rs9331896-T	0.62	3E-9		1.1904762	[1.12-1.25]	NR [NR]	N
794	chr8	27467685	27467686	rs9331896	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	8p21.1	CLU	rs9331896-T	0.621	3E-25		1.1628	[1.12-1.19]	Illumina [7055881] (imputed)	N
794	chr8	27468861	27468862	rs9331888	19734903	Lambert JC	2009-09-06	Nat Genet	Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.	Alzheimer's disease	2,032 European ancestry cases, 5,328 European ancestry controls	3,978 European ancestry cases, 3,297 European ancestry controls	8p21.1	CLU	rs2279590-?,rs11136000-?,rs9331888-?	0.26	6E-10	(CCG)	1.22	[1.14-1.29]	Illumina [537029]	N
794	chr8	27487789	27487790	rs569214	21627779	Antunez C	2011-05-31	Genome Med	The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.	Alzheimer's disease	319 European ancestry cases, 769 European ancestry controls, 2,690 cases, 2,237 controls	4,982 European ancestry cases, 7,961 European ancestry controls, 2,190 cases, 3,374 controls	8p21.1	CLU	rs569214-?	NR	4E-8		1.14	[NR]	Affymetrix, Illumina [696707] (imputed)	N
795	chr8	27556525	27556526	rs4545046	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	8p21.1	LOC646843	rs4545046-?		7E-6				Illumina [5970354] (imputed)	N
796	chr8	27740416	27740417	rs11774576	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)	176 Japanese ancestry cases, 471 Japanese ancestry controls	NA	8p21.1	SCARA5	rs11774576-A	0.581	3E-6	(Dominant model)	1.699	[1.307-2.208]	Illumina [733202]	N
797	chr8	27905887	27905888	rs6983473	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	8p21.1	C8orf80	rs6983473-A	NR	4E-6	(Continous Variable)	0.04	[0.02-0.06] ug/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
798	chr8	27923387	27923388	rs4732812	20877300	Perroud N	2010-09-28	Pharmacogenomics J	Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.	Suicidal ideation	706 European ancestry individuals	NA	8p21.1	intergenic	rs4732812-?	0.73	3E-6	(Escitalopram)	2.56	[NR]	Illumina [539199]	N
800	chr8	28181754	28181755	rs11779594	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p21.1	NR	rs11779594-C	0.930937853767276	9E-6	(IGP69)	0.2652	[0.15-0.38] unit increase	Illumina [~ 2500000] (imputed)	N
803	chr8	28604790	28604791	rs10448080	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	8p21.1	EXTL3	rs10448080-T	0.68	2E-8		0.023	[0.0093-0.0367] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
804	chr8	28791158	28791159	rs2221894	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p21.1	HMBOX1	rs2221894-G	0.228	6E-6	(Free T3 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
805	chr8	28954891	28954892	rs7844537	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	8p12	KIF13B	rs7844537-G		6E-6		0.05	[0.03-0.07] unit decrease	Affymetrix [~ 2500000] (imputed)	N
806	chr8	28995021	28995022	rs13251954	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	8p12	KIF13B, AF086219	rs13251954-A		2E-6		0.2357	unit decrease	Illumina [5767231] (imputed)	N
806	chr8	29082284	29082285	rs75609241	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	8p12	KIF13B	rs75609241-?	NR	5E-7				Affymetrix [5486770] (imputed)	N
807	chr8	29106058	29106059	rs2954793	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	8p12	KIF13B	rs2954793-T	NR	3E-6		0.2305	unit increase	Illumina [5767231] (imputed)	N
807	chr8	29153776	29153777	rs643472	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 3,111 controls	67 cases, 457 controls	8p12	lnc-KIF13B-1	rs643472-?	NR	3E-8		1.82	[NR]	Illumina [533898] (imputed)	N
807	chr8	29153776	29153777	rs643472	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 1,986 controls	NA	8p12	LNC-KIF13B-1	rs643472-?	NR	1E-6		1.83	[1.43 - 2.34]	Illumina [533898] (imputed)	N
808	chr8	29344461	29344462	rs12548021	23350875	Fernandez-Rozadilla C	2013-01-26	BMC Genomics	A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.	Colorectal cancer	882 European ancestry cases, 473 European ancestry controls	1,436 European ancestry cases, 1,780 European ancestry controls	8p12	NR	rs12548021-?	NR	3E-6		1.28	[1.155-1.418]	Affymetrix [674718]	N
809	chr8	29360304	29360305	rs10091038	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	8p12	LOC646909, DUSP4, KIF13B	rs10091038-A	0.43	3E-8	(HDL, sum)			Illumina [~ 2500000] (imputed)	N
810	chr8	29509615	29509616	rs9693444	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	8p12	intergenic	rs9693444-A	0.32	9E-14		1.07	[1.05-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
811	chr8	29716260	29716261	rs16876083	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8p12	LOC646909, MAP2K1P1	rs16876083-A	0.005	2E-6		8.65	[2.96-25.28]	Illumina [1556551]	N
813	chr8	29982517	29982518	rs12681963	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	8p12	intergenic	rs12681963-T	0.14	2E-7		1.11	[1.06-1.15]	Affymetrix, Illumina [~ 2300000] (imputed)	N
815	chr8	30262785	30262786	rs2979481	22174390	Rankinen T	2011-12-15	J Appl Physiol (1985)	Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs.	Heart rate variability traits	472 European ancestry individuals from 99 families	NA	8p12	RBPMS	rs2979481-?	NR	4E-6				Illumina [320000]	N
817	chr8	30436851	30436852	rs10503871	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	8p12	GTF2E2	rs10503871-C		3E-6		0.04	[0.02-0.05] unit decrease	Affymetrix [~ 2500000] (imputed)	N
817	chr8	30498858	30498859	rs2978263	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	8p12	GTF2E2	rs2978263-?	NR	8E-6	(Animals)			Illumina [up to 563855]	N
821	chr8	30936355	30936356	rs2553268	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Exercise treadmill test traits	Up to 1,238 European ancestry individuals	NA	8p12	WRN	rs2553268-?	NR	6E-6	(S2ESBP)			Affymetrix [70897]	N
821	chr8	31004581	31004582	rs11574358	25918517	Yashin AI	2015-04-13	Front Genet	Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.	Lifespan	679 female individuals	432 male individuals	8p12	WRN	rs11574358-?	0.074	6E-8	(females)	5.584	[NR] unit increase	Affymetrix [429783]	N
821	chr8	31034274	31034275	rs11774682	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p12	NR	rs11774682-C	0.966250893300248	1E-6	(IGP59)	0.827	[0.49-1.16] unit increase	Illumina [~ 2500000] (imputed)	N
821	chr8	31034274	31034275	rs11774682	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p12	NR	rs11774682-C	0.966180189368771	3E-6	(IGP42)	0.8017	[0.47-1.14] unit decrease	Illumina [~ 2500000] (imputed)	N
821	chr8	31034274	31034275	rs11774682	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8p12	NR	rs11774682-C	0.96615368329177	1E-6	(IGP2)	0.8276	[0.49-1.16] unit decrease	Illumina [~ 2500000] (imputed)	N
822	chr8	31174829	31174830	rs2575029	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p12	LOC642513	rs2575029-A	0.229	6E-6	(Diet protein )	0.03	[NR] %energy increase	Illumina [899892]	N
824	chr8	31327048	31327049	rs7004520	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8p12	NR	rs7004520-?	NR	2E-7	(Japanese)	0.5201	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
824	chr8	31342466	31342467	rs6468049	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p12	NR	rs6468049-T	NR	2E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
825	chr8	31479622	31479623	rs10954808	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	8p12	NRG1	rs10954808-?	NR	1E-6	(Response)	1.37	[NR]	Illumina [~ 7000000] (imputed)	N
825	chr8	31567005	31567006	rs4733271	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	8p12	NRG1	rs4733271-A	NR	5E-6	(Continous Variable)	0.04	[0.02-0.06] ug/L increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
826	chr8	31633446	31633447	rs10503887	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	8p12	NRG1	rs10503887-?	NR	2E-7	(ShaftZ1R)			Affymetrix [70897]	N
827	chr8	31794108	31794109	rs1462872	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	8p12	NRG1	rs1462872-A	0.56	9E-6	(AA)	0.16	[0.082-0.238] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
830	chr8	32139651	32139652	rs1487141	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	8p12	NRG1	rs1487141-C		3E-6		0.04	[0.02-0.06] unit increase	Affymetrix [~ 2500000] (imputed)	N
830	chr8	32232826	32232827	rs2347503	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	8p12	NRG1	rs2347503-?	NR	8E-6		0.0465	[0.026-0.067] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
831	chr8	32318354	32318355	rs12542743	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	8p12	NR	rs12542743-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
831	chr8	32346294	32346295	rs10097555	25325441	Baik I	2015-07-01	Sleep	Associations of Sleep Apnea, NRG1 Polymorphisms, Alcohol Consumption, and Cerebral White Matter Hyperintensities: Analysis with Genome-Wide Association Data.	Obstructive sleep apnea	235 Korean ancestry cases, 235 Korean ancestry controls	NA	8p12	NRG1	rs10097555-A		5E-6	(additive model)	2.5	[1.67-3.7]	Affymetrix [319517] (imputed)	N
832	chr8	32401500	32401501	rs7005606	25310821	Kim JH	2014-10-13	PLoS One	A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.	Hirschsprung disease	123 Korean ancestry cases, 432 Korean ancestry controls	NA	8p12	NRG1	rs7005606-?	NR	3E-7				Illumina [757260]	N
832	chr8	32403572	32403573	rs7823498	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	8p12	NRG1	rs7823498-T	NR	5E-7	(%LAA-950, All)	0.098	[0.061-0.135] unit decrease	Illumina [7600000] (imputed)	N
832	chr8	32403572	32403573	rs7823498	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	8p12	NRG1	rs7823498-T	NR	1E-6	(Perc15, All)	2.0	[1.22-2.78] unit increase	Illumina [7600000] (imputed)	N
832	chr8	32411215	32411216	rs16879552	19196962	Garcia-Barcelo MM	2009-02-05	Proc Natl Acad Sci U S A	Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.	Hirschsprung disease	181 Chinese ancestry cases, 346 Chinese ancestry controls	190 Chinese ancestry cases, 510 Chinese ancestry controls	8p12	NRG1	rs16879552-G	0.61	2E-8		1.68	[1.40-2.00]	Affymetrix [293836]	N
832	chr8	32412358	32412359	rs2439312	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	8p12	NRG1	rs2439312-?	0.24	7E-6		2.36	[1.62-3.45]	Affymetrix [832357]	N
832	chr8	32416273	32416274	rs7825175	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	8p12	NRG1	rs7825175-A	0.21	3E-9	(TSH)	0.066	[0.044-0.088] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
832	chr8	32416273	32416274	rs7825175	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	8p12	NRG1	rs7825175-A	0.21	2E-8	(TSH - Females)	0.084	[0.055-0.113] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
832	chr8	32432368	32432369	rs2439302	22267200	Gudmundsson J	2012-01-22	Nat Genet	Discovery of common variants associated with low TSH levels and thyroid cancer risk.	Thyroid cancer	27,758 European ancestry individuals	1,156 European ancestry cases, up to 42,617 European ancestry controls	8p12	NRG1	rs2439302-G	0.351	2E-9		1.36	[1.23-1.50]	Illumina [~ 16000000] (imputed)	N
832	chr8	32437993	32437994	rs2466067	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	8p12	NRG1	rs2466067-C	0.31	8E-6	(EA)	0.05	[0.03-0.07] unit decrease	Illumina [up to 905285]	N
833	chr8	32635573	32635574	rs13257518	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	8p12	NRG1	rs13257518-A	0.177	2E-6	(EA, less than 25 years)	1.37	[1.202-1.561]	Affymetrix, Illumina [NR] (imputed)	N
834	chr8	32697957	32697958	rs17673138	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio)	Up to 290 European ancestry cases	NA	8p12	intergenic	rs17673138-C	NR	6E-8		0.4143	[NR] unit decrease	Affymetrix [686595]	N
841	chr8	33565377	33565378	rs4469412	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	8p12	VENTXP5	rs4469412-?		9E-7	(AA)			Illumina [NR]	N
841	chr8	33665679	33665680	rs10503951	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	8p12	LOC388460	rs10503951-?		3E-9	(AA)			Illumina [NR]	N
841	chr8	33673010	33673011	rs11786194	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	8p12	LOC388460	rs11786194-?		9E-7	(AA)			Illumina [NR]	N
842	chr8	33770069	33770070	rs11997175	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8p12	DUSP26	rs11997175-C	0.496	6E-6		0.013	[0.0075-0.0189] kg/m2 increase	Affymetrix, Illumina [2550021]	N
842	chr8	33770069	33770070	rs11997175	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8p12	DUSP26	rs11997175-C	0.495	4E-6	(EA)	0.014	[0.008-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
844	chr8	33998570	33998571	rs74804370	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p12	NR	rs74804370-C	NR	2E-7		1.1494253	[NR]	Illumina [7158791] (imputed)	N
844	chr8	34045260	34045261	rs9297216	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	8p12	intergenic	rs9297216-?	NR	1E-6				Affymetrix [786195]	N
845	chr8	34126947	34126948	rs6990255	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	8p12	intergenic	rs6990255-T	NR	2E-6	(5 degree of freedom test)	1.146	[1.09-1.20]	NR [1252901] (imputed)	N
845	chr8	34126947	34126948	rs6990255	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	8p12	NR	rs6990255-T	0.95	6E-6		1.33	[1.18-1.51]	Affymetrix, Illumina [2366197] (imputed)	N
846	chr8	34236991	34236992	rs2609653	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	8p12	intergenic	rs2609653-T		3E-6	(Modelling analysis)	1.13	[1.07-1.19]	NR [1252901] (imputed)	N
846	chr8	34236991	34236992	rs2609653	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	8p12	NR	rs2609653-?	NR	7E-6	(addtive)			Affymetrix [NR]	N
848	chr8	34503775	34503776	rs7844647	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8p12	UNC5D	rs7844647-T	0.739	5E-6	(EA)	0.016	[0.0089-0.0227] kg/m2 increase	Affymetrix, Illumina [2550021]	N
848	chr8	34503775	34503776	rs7844647	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8p12	UNC5D	rs7844647-T	0.719	3E-7		0.017	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
848	chr8	34524002	34524003	rs6987004	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	8p12	intergenic	rs6987004-?	NR	7E-6	(FEV1/FVC decline in asthmatics)	0.2583	[0.15-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
863	chr8	36459453	36459454	rs7814403	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p12	FKSG2	rs7814403-G	0.462	3E-7	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
863	chr8	36459453	36459454	rs7814403	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8p12	FKSG2	rs7814403-G	0.462	2E-6	(Energy intake )	0.03	[NR] kcal/d increase	Illumina [899892]	N
866	chr8	36846108	36846109	rs7816345	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Percent mammographic density	7,916 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	8p11.23	intergenic	rs7816345-T	0.18	5E-8		0.08	[0.041-0.119] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
866	chr8	36846108	36846109	rs7816345	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (non-dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	8p11.23	intergenic	rs7816345-T	0.18	2E-23		0.24	[0.18-0.30] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
866	chr8	36846108	36846109	rs7816345	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	8p11.23	KCNU1, ZNF703, MRPS7P1	rs7816345-T	0.194	2E-14		0.151	[0.11-0.19] cup size decrease	Illumina [7422970] (imputed)	N
866	chr8	36941541	36941542	rs4739466	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	8p11.23	NR	rs4739466-?	NR	4E-6	(recessive)			Affymetrix [NR]	N
866	chr8	36951913	36951914	rs2407103	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	8p11.23	KCNU1	rs2407103-C	0.09	2E-6	(Insulin)	15.0	[9.00 - 23.00] % increase	Affymetrix [872243]	N
868	chr8	37096058	37096059	rs1015003	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	Heart rate	455 African American individuals	NA	8p11.23	intergenic	rs1015003-G		1E-6		3.94	[NR] ms increase	Illumina [> 930000]	N
872	chr8	37657525	37657526	rs915650	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	8p11.23	intergenic	rs915650-?	NR	3E-6		0.59	unit decrease	NR [at least 1978803] (imputed)	N
872	chr8	37681425	37681426	rs12676965	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	8p11.23	GPR124, RAB11FIP1, PROSC, ERLIN2, BRF2	rs12676965-T	0.8224	3E-6		0.062	[0.036-0.088] unit increase	Illumina [2500000] (imputed)	N
872	chr8	37686748	37686749	rs6468442	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	8p11.23	NR	rs6468442-?	NR	3E-7		0.39	[0.24-0.54] years decrease	Illumina [315418]	N
874	chr8	37977731	37977732	rs2517388	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	8p11.23	NR	rs2517388-T	0.8234	1E-7		0.2146	[0.13-0.29] years increase	NR [NR]	N
874	chr8	37977731	37977732	rs2517388	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	8p11.23	ASH2L	rs2517388-G	0.174	9E-15		0.262	[0.2-0.33] years increase	Affymetrix, Illumina [2551160] (imputed)	N
874	chr8	38004424	38004425	rs16887217	24124408	Hong KW	2013-09-30	Genomics Inform	Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.	Orthostatic hypotension	667 Korean ancestry cases,  5,761 Korean ancestry controls	NA	8p11.23	STAR	rs16887217-C	0.105	4E-6	(Delta DBP)	1.16	[NR] mmHg increase	Affymetrix [333651]	N
875	chr8	38031344	38031345	rs16887244	22037555	Shi Y	2011-10-30	Nat Genet	Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.	Schizophrenia	3,750 Han Chinese ancestry cases, 6,468 Han Chinese ancestry controls	4,383 Han Chinese ancestry cases, 4,539 Han Chinese ancestry controls	8p11.23	LSM1, WHSC1L1	rs16887244-?	0.683	1E-10		1.19	[1.14-1.27]	Affymetrix [546561]	N
876	chr8	38248305	38248306	rs112537273	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8p11.23	NR	rs112537273-T	NR	2E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
878	chr8	38469302	38469303	rs7832232	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	8p11.22	RNF5P1	rs7832232-A	0.45	5E-6	(recessive)	1.45	[1.24-1.71]	Illumina [420236]	N
880	chr8	38781039	38781040	rs11782824	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	8p11.22	NR	rs11782824-A	NR	4E-6		0.027	[0.015-0.039] unit decrease	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
886	chr8	39548377	39548378	rs1349547	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 susceptibility	496 African ancestry cases and 302 African ancestry exposed controls from serodiscordant couples	NA	8p11.22	ADAM18	rs1349547-?	NR	2E-6				Illumina [990115]	N
888	chr8	39823144	39823145	rs2160860	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	8p11.21	IDO1	rs2160860-A	0.61	7E-11	(X-12100--hydroxytryptophan)	0.012	[0.0081-0.0159] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
890	chr8	40053604	40053605	rs10958605	22658654	Chung SJ	2012-05-30	Parkinsonism Relat Disord	Genomic determinants of motor and cognitive outcomes in Parkinson's disease.	Parkinson's disease (motor and cognition)	443 European ancestry cases	NA	8p11.21	C8orf4	rs10958605-?	NR	2E-6	(motor outcome)	1.81	[1.42-2.31]	NR [198345]	N
892	chr8	40252700	40252701	rs11786458	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	8p11.21	intergenic	rs11786458-?	NR	9E-6	(binary)			Perlegen [429981]	N
892	chr8	40287248	40287249	rs62505227	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	8p11.21	NR	rs62505227-A	0.086	5E-7		2.23	[1.63-3.06]	Illumina [7261187] (imputed)	N
892	chr8	40333320	40333321	rs13278529	25979521	de Jong K	2015-06-05	J Allergy Clin Immunol	Genome-wide interaction study of gene-by-occupational exposure and effects on FEV<sub>1</sub> levels.	Forced expiratory volume in 1 second (environmental interaction)	12,400 individuals	1,436 individuals	8p11.21	ZMAT4	rs13278529-G	0.15	7E-8	Mineral dust	174.4	[NR] unit increase	Illumina [up to 221663]	N
893	chr8	40484238	40484239	rs2722425	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Fasting plasma glucose	1,027 individuals	NA	8p11.21	ZMAT4	rs2722425-?	NR	9E-6	(FPG)			Affymetrix [70897]	N
893	chr8	40484238	40484239	rs2722425	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Fasting plasma glucose	1,027 individuals	NA	8p11.21	ZMAT4	rs2722425-?	NR	2E-8	(tFPG)			Affymetrix [70897]	N
895	chr8	40726393	40726394	rs7829127	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	8p11.21	ZMAT4	rs7829127-G	0.25	4E-10		0.116	[0.081-0.151] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
897	chr8	40983184	40983185	rs77924284	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8p11.21	NR	rs77924284-?	NR	3E-7	(AA)	0.5406	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
901	chr8	41519247	41519248	rs516946	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	8p11.21	ANK1	rs516946-C	0.77	2E-7		1.1	[1.06-1.15]	Affymetrix, Illumina [2500000] (imputed)	N
901	chr8	41519461	41519462	rs515071	22456796	Imamura M	2012-03-28	Hum Mol Genet	A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.	Type 2 diabetes	4,470 Japanese ancestry cases, 3,071 Japanese ancestry controls	7,605 Japanese ancestry cases, 3,534 Japanese ancestry controls	8p11.21	ANK1	rs515071-?	0.794	1E-8		1.18	[1.12-1.25]	NR [2229890] (imputed)	N
901	chr8	41549193	41549194	rs6474359	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	8p11.21	ANK1	rs6474359-T	0.97	1E-8		0.06	[0.04-0.08] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
902	chr8	41615137	41615138	rs7006290	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	8p11.21	ANK1	rs7006290-?	NR	5E-6	(FEV1 decline in asthmatics)	0.1846	[0.11-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
902	chr8	41630404	41630405	rs4737009	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	8p11.21	ANK1	rs4737009-A	0.51	1E-15		0.08	[0.060-0.100] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
902	chr8	41630404	41630405	rs4737009	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	8p11.21	ANK1	rs4737009-A	0.24	6E-12		0.03	[0.02-0.04] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
905	chr8	42044964	42044965	rs2020921	24578379	Huang J	2014-02-27	Arterioscler Thromb Vasc Biol	Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.	Plasma plasminogen activator levels	26,217 European ancestry individuals, 712 Orcadian individuals	4,487 European ancestry individuals	8p11.21	PLAT	rs2020921-G	0.95	2E-8		0.067	[0.043-0.091] unit increase	Affymetrix, Illumina [2455857] (imputed)	N
906	chr8	42205079	42205080	rs3136739	24578379	Huang J	2014-02-27	Arterioscler Thromb Vasc Biol	Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.	Plasma plasminogen activator levels	26,217 European ancestry individuals, 712 Orcadian individuals	4,487 European ancestry individuals	8p11.21	POLB	rs3136739-A	0.95	1E-9		0.063	[0.043-0.083] unit increase	Affymetrix, Illumina [2455857] (imputed)	N
909	chr8	42546710	42546711	rs1451240	22524403	Rice JP	2012-04-24	Addiction	CHRNB3 is more strongly associated with Fagerstr&#x000c3;&#x000b6;m test for cigarette dependence-based nicotine dependence than cigarettes per day: phenotype definition changes genome-wide association studies results.	Nicotine dependence	2,267 European ancestry individuals, 99 Hispanic individuals, 999 African American individuals	835 individuals	8p11.21	CHRNB3	rs1451240-?	NR	7E-16				Illumina [948658]	N
909	chr8	42550497	42550498	rs6474412	20418888	Thorgeirsson TE	2010-04-25	Nat Genet	Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.	Smoking behavior	31,266 European ancestry individuals	54,731 European ancestry individuals	8p11.21	CHRNB3, CHRNA6	rs6474412-T	0.78	1E-8		0.29	[0.19-0.39] CPD increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
918	chr8	43695233	43695234	rs58810682	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	8p11.1	intergenic	rs58810682-?	NR	8E-6	(SF9)			Affymetrix [5476100] (imputed)	N
943	chr8	46946625	46946626	rs77583023	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8q11.1	NR	rs77583023-?	NR	1E-6	(Native Hawaiian)	1.125	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
943	chr8	47052817	47052818	rs76794758	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8q11.1	NR	rs76794758-?	NR	8E-7	(Native Hawaiian)	1.1364	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
945	chr8	47243610	47243611	rs117933211	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8q11.1	NR	rs117933211-?	NR	3E-6	(Native Hawaiian)	1.0044	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
946	chr8	47406615	47406616	rs117044419	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8q11.1	NR	rs117044419-?	NR	3E-6	(Native Hawaiian)	0.7395	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
950	chr8	47947700	47947701	rs2287654	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	8q11.1	KIAA0146	rs2287654-T	0.88	4E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
959	chr8	49053164	49053165	rs11778329	21784300	Mick E	2011-07-13	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of the child behavior checklist dysregulation profile.	Attention deficit hyperactivity disorder	341 ADHD case offspring from 339 trios	NA	8q11.21	intergenic	rs11778329-?	NR	7E-6				Illumina [835136]	N
959	chr8	49129241	49129242	rs7011507	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	8q11.21	NR	rs7011507-G	0.88	6E-8	(EA)	1.1094613		Affymetrix, Illumina [~ 9000000] (imputed)	N
959	chr8	49129241	49129242	rs7011507	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	8q11.21	NR	rs7011507-G	0.88	2E-8	(EA)	1.0882828		Affymetrix, Illumina [~ 9000000] (imputed)	N
965	chr8	49812200	49812201	rs12155623	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	8q11.21	EFCAB1	rs12155623-?	0.57	3E-7	(Dominant)	1.14	[1.09-1.20]	Affymetrix [319222]	N
965	chr8	49884816	49884817	rs17641971	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	8q11.21	SNAI2	rs17641971-T	0.66	3E-22	(glutaroyl carnitine)	0.025	[0.019-0.031] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
966	chr8	50024943	50024944	rs10504073	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	8q11.21	SNAI2	rs10504073-T	0.54	3E-32	(lysine/glutaroyl carnitine)	0.031	[0.025-0.037] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
973	chr8	50974318	50974319	rs4873403	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	8q11.21	SNTG1	rs4873403-C	0.13	7E-6	(Right superior frontal gyrus)	1048.0	[NR] unit increase	Affymetrix [517946]	N
977	chr8	51384986	51384987	rs13272236	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q11.21	NR	rs13272236-G	0.0367158118323747	6E-7	(IGP45)	0.8377	[0.51-1.17] unit increase	Illumina [~ 2500000] (imputed)	N
977	chr8	51384986	51384987	rs13272236	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q11.21	NR	rs13272236-G	0.0365154950657895	2E-6	(IGP5)	0.7872	[0.46-1.11] unit increase	Illumina [~ 2500000] (imputed)	N
977	chr8	51412590	51412591	rs310558	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	8q11.21	SNTG1	rs310558-?	NR	5E-6	(ppratio)			Affymetrix [70897]	N
983	chr8	52216761	52216762	rs7821565	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	8q11.22	NR	rs7821565-?	0.61	8E-6		1.2	[1.11-1.25]	Affymetrix [> 333754] (imputed)	N
984	chr8	52300769	52300770	rs62506864	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	8q11.22	PXDNL	rs62506864-C	0.9691	5E-6	(Ordinal)	1.0201	[0.58-1.46] unit increase	Affymetrix, Illumina [NR] (imputed)	N
988	chr8	52887540	52887541	rs1015213	22922875	Vithana EN	2012-08-26	Nat Genet	Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.	Glaucoma (primary angle closure)	1,281 East Asian ancestry cases, 1,987 East Asian ancestry controls, 337 South Indian ancestry cases, 2,538 South Indian ancestry controls, 236 South East Asian ancestry cases, 5,083 South East Asian ancestry controls	1,545 East Asian ancestry cases, 3,756 East Asian ancestry controls, 165 Saudi Arabian ancestry cases, 175 Saudi Arabian ancestry controls, 127 European ancestry cases, 4,703 European ancestry controls, 80 Indian ancestry cases, 309 Indian ancestry controls	8q11.23	PCMTD1-ST18	rs1015213-A	NR	3E-9		1.5	[NR]	Illumina [493501]	N
990	chr8	53125733	53125734	rs2360806	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	8q11.23	ST18	rs2360806-C	0.162	7E-11		0.047	[0.033-0.061] unit increase	Illumina [7428049] (imputed)	N
990	chr8	53214264	53214265	rs7009219	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		8q11.23	ST18	rs7009219-?	0.06	5E-7		0.16	unit decrease	Illumina [NR] (imputed)	N
994	chr8	53684860	53684861	rs7822058	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q11.23	LOC644727	rs7822058-A	0.076	3E-7	(Leptin )	0.04	[NR] ng/mL increase	Illumina [899892]	N
995	chr8	53769212	53769213	rs16918254	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	8q11.23	NPBWR1	rs16918254-A	0.92	1E-8		0.05	[0.032-0.068] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
997	chr8	54119213	54119214	rs1425902	23967269	Kim JH	2013-08-13	PLoS One	A genome-wide association study of total serum and mite-specific IgEs in asthma patients.	IgE levels in asthmatics (D.p. specific)	329 Korean ancestry D.p.-positive cases, 548 Korean ancestry D.p.-negative cases	NA	8q11.23	OPRK1	rs1425902-G	0.262	1E-6		2.14	[1.56-2.94]	Illumina [442089]	N
1000	chr8	54410207	54410208	rs10958369	21659360	Wade R	2011-06-09	Haematologica	Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.	Response to antineoplastic agents	356 European ancestry cases	380 European ancestry cases	8q11.23	intergenic	rs10958369-?	NR	2E-6		2.33	[1.64-3.33]	Illumina [326385]	N
1001	chr8	54555199	54555200	rs11773966	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	8q11.23	ATP6V1H	rs11773966-A	NR	2E-6		2.17	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1006	chr8	55310710	55310711	rs1504749	20364137	Yasuno K	2010-04-04	Nat Genet	Genome-wide association study of intracranial aneurysm identifies three new risk loci.	Intracranial aneurysm	2,780 European ancestry cases, 12,515 European ancestry controls	3,111 Japanese ancestry cases, 1,666 Japanese ancestry controls	8q11.23	SOX17	rs1504749-C	0.21	5E-7		1.17	[1.10-1.24]	Illumina [831534] (imputed)	N
1007	chr8	55327090	55327091	rs10958409	18997786	Bilguvar K	2008-11-09	Nat Genet	Susceptibility loci for intracranial aneurysm in European and Japanese populations.	Intracranial aneurysm	1,580 European ancestry cases, 6,276 European ancestry controls	495 Japanese ancestry cases, 676 Japanese ancestry controls	8q11.23	SOX17	rs10958409-A	0.15	1E-10		1.36	[1.24-1.49]	Illumina [289271]	N
1007	chr8	55421613	55421614	rs10102164	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	8q11.23	SOX17	rs10102164-A	0.21	4E-11		0.032	[NR] unit increase	NR [NR] (imputed)	N
1007	chr8	55421613	55421614	rs10102164	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	8q11.23	SOX17	rs10102164-A	0.21	5E-11		0.03	[NR] unit increase	NR [NR] (imputed)	N
1007	chr8	55437523	55437524	rs9298506	20364137	Yasuno K	2010-04-04	Nat Genet	Genome-wide association study of intracranial aneurysm identifies three new risk loci.	Intracranial aneurysm	2,780 European ancestry cases, 12,515 European ancestry controls	3,111 Japanese ancestry cases, 1,666 Japanese ancestry controls	8q11.23	SOX17	rs9298506-A	0.81	1E-12		1.28	[1.20-1.38]	Illumina [831534] (imputed)	N
1007	chr8	55437523	55437524	rs9298506	18997786	Bilguvar K	2008-11-09	Nat Genet	Susceptibility loci for intracranial aneurysm in European and Japanese populations.	Intracranial aneurysm	1,580 European ancestry cases, 6,276 European ancestry controls	495 Japanese ancestry cases, 676 Japanese ancestry controls	8q11.23	SOX17	rs9298506-A	0.81	2E-9		1.35	[1.22-1.49]	Illumina [289271]	N
1007	chr8	55440067	55440068	rs10104997	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	8q11.23	NR	rs10104997-?	NR	9E-7		1.2	[NR]	Illumina [481342]	N
1013	chr8	56168058	56168059	rs12542677	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	8q12.1	XKR4	rs12542677-A		2E-7	(AA)			Illumina [NR]	N
1014	chr8	56358273	56358274	rs2622590	24852370	Zhan M	2014-05-22	Hum Mol Genet	Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.	Serum thyroid-stimulating hormone levels	1,346 Han Chinese ancestry individuals	3,235 She Chinese ancestry individuals	8q12.1	XKR4, SBF1P1, LYN, TMEM68, TGS1	rs2622590-A	0.445	2E-10		0.03	[NR] unit decrease	Illumina [8503852] (imputed)	N
1016	chr8	56599547	56599548	rs4737395	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		8q12.1	intergenic	rs4737395-?	0.1	5E-9			[NR]	Affymetrix, Illumina [152234]	N
1016	chr8	56599776	56599777	rs4738393	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	8q12.1	intergenic	rs4738393-?	0.67	6E-6		1.09	[1.09-1.22]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1020	chr8	57095807	57095808	rs10958476	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	8q12.1	PLAG1	rs10958476-T	0.786	2E-40		0.051	[0.043-0.059] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1020	chr8	57095807	57095808	rs10958476	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	8q12.1	SDR16C5	rs10958476-?	NR	1E-9	(Conditioned on rs7460090)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1020	chr8	57095807	57095808	rs10958476	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	8q12.1	CHCHD7, RDHE2, MOS, RPS20, LYN, PLAG1, TGS1, PENK	rs10958476-C	0.23	7E-8		5.4	[3.44-7.36] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1020	chr8	57100148	57100149	rs7833986	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	8q12.1	PLAG1	rs7833986-A	0.08	8E-10		0.12	[0.08-0.16] cm decrease	Illumina [420885]	N
1020	chr8	57100790	57100791	rs13273123	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	8q12.1	PLAG1	rs13273123-A	0.86	3E-29		0.099	[0.077-0.121] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1020	chr8	57100790	57100791	rs13273123	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	8q12.1	PLAG1	rs13273123-C	0.07	3E-6		0.75	[NR] cm decrease	Affymetrix [334546]	N
1020	chr8	57100790	57100791	rs13273123	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Height	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	8q12.1	PLAG1	rs13273123-G	0.07	1E-9		0.71	[0.48-0.94] cm decrease	Affymetrix [2156535] (imputed)	N
1021	chr8	57155597	57155598	rs9650315	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	8q12.1	CHCHD7	rs9650315-T	0.133	2E-41		0.061	[0.051-0.071] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1021	chr8	57155597	57155598	rs9650315	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	8q12.1	CHCHD7, RDHE2	rs9650315-T	0.13	4E-7		0.43	[0.59-1.07] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
1021	chr8	57179019	57179020	rs7815788	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	8q12.1	PLAG1	rs7815788-?	0.39	5E-6		0.07	[0.04-0.10] s.d. decrease	Illumina [229216]	N
1021	chr8	57194162	57194163	rs7460090	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	8q12.1	SDR16C5	rs7460090-T	0.87	8E-27		0.058	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1021	chr8	57200361	57200362	rs7815909	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	8q12.1	CHCHD7, RDHE2	rs7815909-A	0.87	5E-25		0.102	[0.075-0.129] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1021	chr8	57209245	57209246	rs4075154	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	8q12.1	RDHE2	rs4075154-A	0.87	3E-9		1.29	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1022	chr8	57313905	57313906	rs12545109	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q12.1	SDR16C6P	rs12545109-A	0.225	9E-6	(Light activity )	0.04	[NR] min/d increase	Illumina [899892]	N
1023	chr8	57505312	57505313	rs2610025	25917933	Zai CC	2014-11-20	J Psychiatr Res	A genome-wide association study of suicide severity scores in bipolar disorder.	Suicide in bipolar disorder	959 European ancestry individuals	NA	8q12.1	LINC00968, PENK	rs2610025-A		5E-6	(suicide behaviour severity)	0.02332	[0.0069-0.0397] unit decrease	Affymetrix, Illumina [2659407] (imputed)	N
1027	chr8	58008280	58008281	rs7833294	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Milk allergy	291 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 614 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	8q12.1	IMPAD1, LOC286177	rs7833294-?	NR	7E-6				Illumina [6459842] (imputed)	N
1033	chr8	58789080	58789081	rs10504249	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	8q12.1	FAM110B	rs10504249-G	0.02	4E-7	(MAP, response to intervention)	2.95	[1.81-4.09] mmHg increase	Affymetrix [2216774] (imputed)	N
1033	chr8	58789080	58789081	rs10504249	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	8q12.1	FAM110B	rs10504249-G	0.02	1E-7	(DBP, response to intervention)	3.22	[2.02-4.42] mmHg increase	Affymetrix [2216774] (imputed)	N
1033	chr8	58840923	58840924	rs1992045	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	8q12.1	FAM110B	rs1992045-?	NR	2E-7		1.563	[NR]	Affymetrix [722112]	N
1035	chr8	58986458	58986459	rs13273891	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	8q12.1	FAM110B	rs13273891-A	0.1933	2E-6		0.953	[NR] unit increase	Illumina [1216074] (imputed)	N
1037	chr8	59324161	59324162	rs2859998	23496005	Luca G	2013-03-18	J Sleep Res	Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.	Narcolepsy with cataplexy	585 European ancestry cases	387 European ancestry cases	8q12.1	UBXN2B	rs2859998-?	NR	1E-7	(Age EDS onset)	4.4145	[NR] unit decrease	NR [NR]	N
1038	chr8	59388564	59388565	rs2081687	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	8q12.1	CYP7A1	rs2081687-T	0.36	1E-7		0.031	[NR] unit increase	NR [NR] (imputed)	N
1038	chr8	59388564	59388565	rs2081687	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	8q12.1	CYP7A1	rs2081687-T	0.36	9E-12		0.038	[NR] unit increase	NR [NR] (imputed)	N
1038	chr8	59388564	59388565	rs2081687	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	8q12.1	CYP7A1	rs2081687-A	0.35	4E-9		0.95	[0.6-1.3] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1038	chr8	59388564	59388565	rs2081687	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	8q12.1	CYP7A1	rs2081687-A	0.35	9E-13		1.26	[0.87-1.65] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1038	chr8	59392323	59392324	rs9297994	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	8q12.1	CYP7A1	rs9297994-G	0.34	2E-11		0.042	[0.03-0.054] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1038	chr8	59393272	59393273	rs4738684	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	8q12.1	CYP7A1	rs4738684-A	0.34	3E-11		0.041	[0.029-0.053] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1039	chr8	59508579	59508580	rs11994937	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q12.1	NR	rs11994937-C	0.978061912475822	5E-6	(IGP14)	0.5011	[0.29-0.72] unit decrease	Illumina [~ 2500000] (imputed)	N
1039	chr8	59601556	59601557	rs1387221	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	8q12.1	intergenic	rs1387221-?	NR	8E-6	(AUC)			NR [2092490]	N
1040	chr8	59708308	59708309	rs960089	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	8q12.1	TOX	rs960089-?	0.06545	6E-6	(PAL6)			Illumina [475971]	N
1043	chr8	60078733	60078734	rs7823467	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	8q12.1	TOX	rs7823467-T	0.388	3E-7		1.085	[1.052-1.120]	Affymetrix, Illumina [NR] (imputed)	N
1043	chr8	60130295	60130296	rs3110127	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	8q12.1	intergenic	rs3110127-A	0.33	4E-6		0.15	[0.09-0.21] unit decrease	Illumina [~ 318327]	N
1043	chr8	60132193	60132194	rs10113215	25233373	Simpson CL	2014-09-18	PLoS One	Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.	Myopia	3,923 European ancestry cases, 11,696 European ancestry controls	1,410 European ancestry cases, 2,921 cases, 3,171 European ancestry controls, 998 controls	8q12.1	TOX	rs10113215-?		1E-8				Affymetrix, Illumina [up to 3397980] (imputed)	N
1044	chr8	60178720	60178721	rs10089517	25233373	Simpson CL	2014-09-18	PLoS One	Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.	Hyperopia	7,068 European ancestry cases, 6,844 European ancestry controls	1,554 European ancestry cases, 892 cases, 1,654 European ancestry controls, 2,921 controls	8q12.1	TOX	rs10089517-?		2E-11				Affymetrix, Illumina [up to 3397980] (imputed)	N
1044	chr8	60178720	60178721	rs10089517	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	8q12.1	TOX	rs10089517-C	0.71	2E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1044	chr8	60179085	60179086	rs7837791	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	8q12.1	CHD7, TOX	rs7837791-T	0.49	4E-12		0.106	[0.077-0.135] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1046	chr8	60545663	60545664	rs4737547	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		8q12.1	NR	rs4737547-G	0.42	3E-6	(Any IgH translocation vs. controls)	1.3	[1.17-1.45]	Illumina [414804] (imputed)	N
1047	chr8	60623347	60623348	rs12541902	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q12.1	CA8	rs12541902-A	0.154	9E-6	(Urinary free dopamine: creatinine)	0.03	[NR] unit increase	Illumina [899892]	N
1048	chr8	60700468	60700469	rs6984242	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q12.1	NR	rs6984242-G	NR	7E-10		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1048	chr8	60700468	60700469	rs6984242	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	8q12.1	CA8	rs6984242-G	0.4	6E-9		1.0626993	[1.04-1.08]	Affymetrix, Illumina [9005918] (imputed)	N
1050	chr8	60961820	60961821	rs569688	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		8q12.1	intergenic	rs569688-?	0.197	4E-7			[NR]	Affymetrix, Illumina [152234]	N
1050	chr8	61003896	61003897	rs6995588	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	8q12.1	CA8	rs6995588-?	NR	2E-6	(additive,  dominant)			Affymetrix [361034]	N
1051	chr8	61105198	61105199	rs10098647	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q12.1	CA8	rs10098647-G	0.3	5E-6	(Urinary free dopamine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
1051	chr8	61194169	61194170	rs10957125	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	8q12.1	CA8	rs10957125-?	NR	4E-6	(SF7)			Affymetrix [5476100] (imputed)	N
1053	chr8	61346196	61346197	rs9650199	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	8q12.1	intergenic	rs9650199-?	NR	6E-6	(SF3)			Affymetrix [5476100] (imputed)	N
1054	chr8	61592877	61592878	rs187025166	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	8q12.2	NR	rs187025166-?	NR	4E-6	(Japanese)	0.8255	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1057	chr8	61876043	61876044	rs10104895	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	8q12.2	CHD7	rs10104895-?	NR	2E-6	(FEV1/FVC decline in asthmatics)	0.264	[0.16-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
1058	chr8	62054462	62054463	rs12681792	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	8q12.2	intergenic	rs12681792-?	0.78	9E-7		1.08	[1.04-1.11]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1058	chr8	62055666	62055667	rs7830371	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	8q12.2	LOC100130298	rs7830371-?		8E-7				Illumina [859311]	N
1058	chr8	62086175	62086176	rs4738873	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q12.2	CLVS1	rs4738873-A	0.206	2E-6		0.018	[0.01-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1058	chr8	62086175	62086176	rs4738873	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q12.2	CLVS1	rs4738873-A	0.195	5E-7	(EA)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1061	chr8	62401961	62401962	rs7826834	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	8q12.3	RLBP1L1	rs7826834-T	0.015	3E-6		0.02	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1061	chr8	62409427	62409428	rs903027	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Whole-brain volume	434 European ancestry mild cognitive impairment cases, 245 European ancestry Alzheimer's disease cases, 284 European ancestry controls	NA	8q12.3	RLBP1L1	rs903027-?	NR	6E-6		0.009	[NR] unit decrease	Illumina [478011]	N
1064	chr8	62898948	62898949	rs34746873	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	8q12.3	intergenic	rs34746873-G	0.5884	2E-6	(Ordinal I)	0.1865	[0.11-0.26] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1065	chr8	62926146	62926147	rs344235	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	8q12.3	ASPH, NKAIN3	rs344235-G	0.61	4E-6	(women)	0.08	[0.047-0.113] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1067	chr8	63258916	63258917	rs142014203	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	8q12.3	NKAIN3	rs142014203-T	0.974	9E-7		0.126	[0.075-0.177] unit decrease	Illumina [6150213] (imputed)	N
1068	chr8	63432791	63432792	rs10156309	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	8q12.3	NKAIN3	rs10156309-?	NR	3E-7	(EA)	3.23	[1.33-]	Affymetrix, Illumina [NR] (imputed)	N
1070	chr8	63621568	63621569	rs2882926	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	8q12.3	NKAIN3	rs2882926-A	0.11	7E-6	(Age 20-60 years)	1.56	[1.28-1.90]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1072	chr8	63883592	63883593	rs7834588	22437554	Major JM	2012-03-21	J Nutr	Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.	Response to Vitamin E supplementation	2,112 European ancestry individuals	NA	8q12.3	NKAIN3	rs7834588-T	0.41	6E-7	(alpha-TOH)	0.03	[0.010-0.050] mg/L increase	Illumina [549989]	N
1082	chr8	65192450	65192451	rs11787111	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q12.3	LOC100130155	rs11787111-G	0.969	4E-6	(EA)	0.053	[0.031-0.076] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1082	chr8	65192450	65192451	rs11787111	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q12.3	LOC100130155	rs11787111-G	0.968	3E-6		0.052	[0.03-0.074] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1083	chr8	65303534	65303535	rs298182	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	8q12.3	BHLHB5, CYP7B1	rs298182-A	0.09	3E-6	(CERAD-dr)	0.4599	[0.27-0.65] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1085	chr8	65640259	65640260	rs10808739	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 susceptibility	496 African ancestry cases and 302 African ancestry exposed controls from serodiscordant couples	NA	8q12.3	CYP7B1	rs10808739-?	NR	1E-6				Illumina [990115]	N
1086	chr8	65730206	65730207	rs6472155	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	8q12.3	CYP7B1	rs6472155-A	0.51	4E-6		0.23	[0.13-0.33] unit decrease	Illumina [2675979] (imputed)	N
1088	chr8	65999962	65999963	rs2980003	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	8q12.3	CYP7B1	rs2980003-T	0.27	5E-6	(EA-triglyceride response)	22.07	[12.6-31.54] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1092	chr8	66463477	66463478	rs6981992	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q13.1	ARMC1	rs6981992-A	0.489	8E-6	(Sleep duration )	0.02	[NR] min/d increase	Illumina [899892]	N
1093	chr8	66624231	66624232	rs10504390	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q13.1	NR	rs10504390-G	0.0804795064530485	2E-7	(IGP54)	0.2877	[0.18-0.4] unit decrease	Illumina [~ 2500000] (imputed)	N
1093	chr8	66624231	66624232	rs10504390	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q13.1	NR	rs10504390-G	0.0804795064530485	1E-7	(IGP14)	0.2953	[0.19-0.4] unit decrease	Illumina [~ 2500000] (imputed)	N
1093	chr8	66624231	66624232	rs10504390	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q13.1	NR	rs10504390-G	0.0802926317898486	8E-6	(IGP68)	0.2503	[0.14-0.36] unit decrease	Illumina [~ 2500000] (imputed)	N
1094	chr8	66822029	66822030	rs6472235	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		8q13.1	intergenic	rs6472235-?	0.617	1E-7			[NR]	Affymetrix, Illumina [152234]	N
1095	chr8	66851730	66851731	rs4601292	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	8q13.1	DNAJC5B	rs4601292-?	NR	6E-6				Illumina [990115]	N
1095	chr8	66864337	66864338	rs150435906	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	8q13.1	DNAJC5B, PDE7A	rs150435906-?	0.01	6E-7		8.6	[NR]	Affymetrix [4893794] (imputed)	N
1095	chr8	66974251	66974252	rs13279522	22666496	Shiffman D	2012-05-30	PLoS One	Genome-wide study of gene variants associated with differential cardiovascular event reduction by pravastatin therapy.	Coronary heart disease event reduction in response to statin therapy (interaction)	682 European, African American, Hispanic, Asian, Pacific Islander and other ancestry cases with events, 383 cases with events	29 European, African American, Hispanic, Asian, Pacific Islander and other ancestry cases with events, 2,398 European, African American, Hispanic, Asian, Pacific Islander and other ancestry cases without events, 729 cases with events, 9,563 cases without events	8q13.1	DNAJC5B, TRIM55, CRH	rs13279522-?	NR	5E-7		1.59	[1.33-1.92]	Illumina [~ 1400000]	N
1098	chr8	67360724	67360725	rs1030420	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	8q13.1	ADHFE1	rs1030420-T	0.19	1E-11	(X-04499--3,4-dihydroxybutyrate)	0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1099	chr8	67381267	67381268	rs10112574	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	8q13.1	ADHFE1	rs10112574-A	0.2	3E-14	(X-04499--3,4-dihydroxybutyrate/C-glycosyltryptophan)	0.025	[0.019-0.031] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1107	chr8	68421564	68421565	rs1393902	25060954	Wolber LE	2014-07-24	Hum Mol Genet	Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.	Hearing function	1,022 European ancestry individuals, 280 Carlantino individuals, 1,097 Friuli Venezia Giulia individuals, 804 Korkula individuals, 497 Split individuals, 421 Cilento individuals, 470 Talana individuals, 348 Silk Road individuals	NA	8q13.2	CPA6, LOC100132812, ARFGEF1	rs1393902-G	NR	3E-7	(PC2)			Affymetrix, Illumina [> 2300000] (imputed)	N
1107	chr8	68427546	68427547	rs1875714	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	8q13.2	intergenic	rs1875714-T	0.628	2E-6		0.022	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1108	chr8	68613389	68613390	rs7003257	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	8q13.2	CPA6	rs7003257-T	0.73	9E-6	(AA)	1.1	[1.06-1.15]	Affymetrix, Illumina [2579389] (imputed)	N
1108	chr8	68678149	68678150	rs7461360	25628645	Tong Y	2015-01-13	Front Genet	Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs).	Response to Homoharringtonine (cytotoxicity)	93 African-American ancestry lymphoblastoid cell lines, 91 European ancestry lymphoblastoid cell lines, 94 Han Chinese ancestry lymphoblastoid cell lines	NA	8q13.2	intergenic	rs7461360-?		2E-6				Affymetrix, Illumina [6750581] (imputed)	N
1109	chr8	68799376	68799377	rs6990917	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	8q13.2	RP11-396J6.2	rs6990917-?	NR	2E-6	(LTG)			Illumina [NR]	N
1112	chr8	69103057	69103058	rs78315000	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	8q13.2	NR	rs78315000-G	0.042	1E-6		3.83	[2.22-6.60]	Illumina [7261187] (imputed)	N
1114	chr8	69389216	69389217	rs1517114	22664479	Han JY	2012-06-05	Pharmacogenomics J	A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer.	Response to irinotecan in non-small-cell lung cancer	101 non-small-cell lung cancer cases	146 non-small-cell lung cancer cases	8q13.2	C8orf34	rs1517114-C	0.12	9E-6	(G3D)	4.1	[2.10-8.00]	Affymetrix [312230]	N
1115	chr8	69563694	69563695	rs7825271	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q13.2	C8orf34	rs7825271-C	0.251	3E-7	(AST )	0.04	[NR] U/L increase	Illumina [899892]	N
1117	chr8	69730718	69730719	rs16935110	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q13.2	C8orf34	rs16935110-T	0.116	5E-6	(Urinary free norepinephrine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
1118	chr8	69873451	69873452	rs16935279	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio)	Up to 185 European ancestry cases	NA	8q13.2	LOC100505718	rs16935279-C	0.014	5E-10		0.7918	[NR] unit decrease	Affymetrix [686595]	N
1118	chr8	69992379	69992380	rs2912522	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	8q13.2	SULF1, C8orf34	rs2912522-?	0.8	2E-13		1.39	[1.28-1.52]	Illumina [234939]	N
1122	chr8	70412449	70412450	rs6982250	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	8q13.2	SULF1	rs6982250-T	0.25	1E-6		0.046	[0.026-0.066] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1122	chr8	70493973	70493974	rs13273088	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	8q13.2	SULF1	rs13273088-?		7E-7				Affymetrix, Illumina [~ 2400000] (imputed)	N
1124	chr8	70680982	70680983	rs10090896	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	8q13.3	SLCO5A1	rs10090896-A		2E-6		0.04	[0.02-0.06] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1124	chr8	70724753	70724754	rs16936455	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	8q13.3	NR	rs16936455-?	NR	7E-6	(progression)			Illumina [NR]	N
1125	chr8	70809260	70809261	rs12680109	20732625	Neale BM	2010-08-01	J Am Acad Child Adolesc Psychiatry	Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	2,064 European ancestry trios, 896 European ancestry cases, 2,455 European ancestry controls	NA	8q13.3	TCEB1	rs12680109-T	NR	7E-6				Affymetrix, Illumina, Perlegen [1206462] (imputed)	N
1126	chr8	70950279	70950280	rs7008026	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q13.3	NR	rs7008026-C	NR	6E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1126	chr8	70976504	70976505	rs7010162	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	8q13.3	PRDM14	rs7010162-G	0.61	5E-8		1.22	[1.11-1.34]	Illumina [307291]	N
1127	chr8	71139329	71139330	rs72663955	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	8q13.3	NCOA2	rs72663955-G		6E-6		0.2246	unit increase	Illumina [5767231] (imputed)	N
1127	chr8	71167993	71167994	rs2926702	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	8q13.3	NCOA2	rs2926702-T	0.572	7E-6	(Additive model)			Affymetrix [271817]	N
1128	chr8	71189341	71189342	rs16936870	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	8q13.3	NCOA2	rs16936870-A	0.097	1E-9		0.99	[0.68-1.3] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1129	chr8	71386903	71386904	rs10091374	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	8q13.3	TRAM1, NCOA2	rs10091374-A	NR	9E-9	(Continous Variable)	0.043	[0.027-0.059] ug/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1130	chr8	71544747	71544748	rs13272623	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q13.3	NR	rs13272623-G	0.155110978134761	4E-6	(IGP56)	0.2093	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
1130	chr8	71544747	71544748	rs13272623	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q13.3	NR	rs13272623-G	0.154915348909657	2E-6	(IGP7)	0.2155	[0.13-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
1130	chr8	71544747	71544748	rs13272623	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q13.3	NR	rs13272623-G	0.154915348909657	2E-6	(IGP47)	0.218	[0.13-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
1131	chr8	71579909	71579910	rs72667712	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	8q13.3	NR	rs72667712-?		5E-7	(PCB194)	0.74	[0.45-1.03] unit decrease	Illumina [8736858] (imputed)	N
1131	chr8	71591202	71591203	rs7017914	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	8q13.3	XKR9	rs7017914-A	0.49	2E-7	(FNBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1134	chr8	72077954	72077955	rs16937456	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	8q13.3	EYA1	rs16937456-G	0.124	2E-12		1.4	[NR]	Illumina [8207076] (imputed)	N
1136	chr8	72263955	72263956	rs2218488	17903308	Gottlieb DJ	2007-09-19	BMC Med Genet	Genome-wide association of sleep and circadian phenotypes.	Sleep-related phenotypes	up to 738 individuals from 203 families	NA	8q13.3	EYA1	rs2218488-?	NR	3E-6	(Sleepiness)			Affymetrix [70897]	N
1136	chr8	72270081	72270082	rs7006821	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	8q13.3	EYA1	rs7006821-C	0.07	5E-6	(IL8)			Illumina [588352]	N
1136	chr8	72294587	72294588	rs10957550	24688116	Deelen J	2014-03-31	Hum Mol Genet	Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.	Longevity (85 years and older)	7,729 European ancestry cases, 16,121 European ancestry controls	13,060 European ancestry cases, 61,156 European ancestry controls	8q13.3	EYA1	rs10957550-?	0.756	1E-6		1.09	[1.05-1.11]	Illumina [2480356] (imputed)	N
1137	chr8	72447417	72447418	rs13263568	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	8q13.3	intergenic	rs13263568-G	0.09	2E-6		1.1	[1.06-1.14]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1138	chr8	72514227	72514228	rs12679556	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	8q13.3	MSC	rs12679556-G	0.2767	2E-10		0.0243	[0.017-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1138	chr8	72514227	72514228	rs12679556	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	8q13.3	MSC	rs12679556-G	0.2711	3E-10	(women)	0.0316	[0.022-0.041] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1138	chr8	72514227	72514228	rs12679556	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	8q13.3	MSC	rs12679556-G	0.2477	2E-10	(EA, women)	0.0329	[0.023-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1138	chr8	72514227	72514228	rs12679556	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	8q13.3	MSC	rs12679556-G	0.2475	2E-11	(EA)	0.0268	[0.019-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1138	chr8	72561741	72561742	rs7834018	22843504	Anney R	2012-07-26	Hum Mol Genet	Individual common variants exert weak effects on the risk for autism spectrum disorderspi.	Autism	1,419 European ancestry cases from 1416 families	1,314 European ancestry cases from 1301 families	8q13.3	intergenic	rs7834018-?	NR	8E-7	(Strict, EA)	1.56	[1.3-1.89]	Illumina [947233]	N
1142	chr8	73070734	73070735	rs11994034	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	8q21.11	NR	rs11994034-T		7E-6				Illumina [2373249] (imputed)	N
1142	chr8	73071958	73071959	rs11984631	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Current cigarettes per day in chronic obstructive pulmonary disease	1,113 European ancestry cases	NA	8q21.11	intergenic	rs11984631-T	0.99	2E-6		1.351	unit increase	Illumina [~ 6300000] (imputed)	N
1142	chr8	73106915	73106916	rs1963982	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Blood pressure	Up to 1,327 individuals	NA	8q21.11	intergenic	rs1963982-?	NR	3E-6	(DBP)			Affymetrix [70897]	N
1143	chr8	73236809	73236810	rs7006742	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	8q21.11	intergenic	rs7006742-?	NR	1E-7	(FEV1 decline in asthmatics)	0.7773	[0.49-1.06] unit increase	Illumina [~ 2500000] (imputed)	N
1144	chr8	73363988	73363989	rs2116078	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (age of onset)	978 European ancestry cases, 883 European ancestry controls	NA	8q21.11	KCNB2	rs2116078-?	0.48	3E-6			[NR]	Illumina [551642]	N
1146	chr8	73633027	73633028	rs2247572	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	8q21.11	KCNB2	rs2247572-?	NR	1E-6	(Animals)			Illumina [up to 563855]	N
1147	chr8	73778641	73778642	rs10504543	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Echocardiographic traits	Up to 1,238 European ancestry individuals	NA	8q21.11	KCNB2	rs10504543-?	NR	5E-6	(LVSD)			Affymetrix [70897]	N
1149	chr8	74007346	74007347	rs12677663	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	8q21.11	C8orf84, TERF1, RPL7, RDH10, KCNB2	rs12677663-T	0.659	2E-8		1.15	[1.04-1.28]	Affymetrix, Illumina [1060934] (imputed)	N
1150	chr8	74066178	74066179	rs2383876	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	8q21.11	RPESP	rs2383876-A	NR	5E-6		0.0508	[0.029-0.073] mm decrease	Illumina [1704858] (imputed)	N
1151	chr8	74274190	74274191	rs12679254	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	8q21.11	intergenic	rs12679254-?	NR	2E-6	(binary)			Perlegen [429981]	N
1153	chr8	74467503	74467504	rs4342585	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	8q21.11	STAU2	rs4342585-C	0.9826	9E-6		0.2559	[0.14-0.37] unit decrease	Illumina [2500000] (imputed)	N
1154	chr8	74685403	74685404	rs2046180	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	8q21.11	STAU2, UBE2W	rs2046180-G	0.2	8E-6	(women)	0.124	[0.069-0.179] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1156	chr8	74919712	74919713	rs10504554	26385043	Kertai MD	2015-06-17	Am Heart J	Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery.	Postoperative atrial fibrillation in coronary artery bypass grafting surgery	620 European ancestry cases, 257 European ancestry controls	220 cases, 84 controls	8q21.11	LY96	rs10504554-A	0.82	4E-6		1.82	[1.01-3.23]	Illumina [524975]	N
1157	chr8	75010232	75010233	rs7001413	24954085	Della-Morte D	2014-06-14	J Neurol Sci	Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.	Carotid plaque burden (smoking interaction)	665 Hispanic individuals	264 Hispanic indivduals	8q21.11	LY96, JPH1	rs7001413-T	0.08	5E-6		0.63	[0.36-0.90] unit decrease	Affymetrix [722379]	N
1159	chr8	75294974	75294975	rs4471028	17903300	Fox CS	2007-09-19	BMC Med Genet	Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.	Waist circumference	1,079 European ancestry individuals from 310 families	NA	8q21.11	GDAP1	rs4471028-?	NR	2E-7				Affymetrix [70897]	N
1160	chr8	75373947	75373948	rs16938910	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	8q21.11	intergenic	rs16938910-?	0.011	4E-7	(CSJC , EA, RF+)	28.66	[NR] unit increase	Illumina [534053]	N
1161	chr8	75513133	75513134	rs6472866	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	8q21.12	GDAP1, PI15	rs6472866-?	0.42	8E-7	(myoglobin)			Illumina [496032]	N
1165	chr8	76036443	76036444	rs1531590	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q21.13	NR	rs1531590-C	0.227292733303651	3E-6	(IGP26)	0.1794	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
1165	chr8	76147953	76147954	rs16939046	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	8q21.13	AC022274.1	rs16939046-T	0.09	4E-6	(4-choice RT)	0.22	[0.12-0.32] unit increase	Illumina [~ 610000]	N
1166	chr8	76230300	76230301	rs6472903	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	8q21.13	intergenic	rs6472903-T	0.82	2E-17		1.1	[1.08-1.12]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1167	chr8	76319165	76319166	rs117628011	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8q21.13	intergenic	rs117628011-A	0.054	5E-6		3.06	[1.85-5.04]	Illumina [1556551]	N
1168	chr8	76417936	76417937	rs2943559	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	8q21.13	HNF4G	rs2943559-G	0.07	6E-15		1.13	[1.09-1.17	Affymetrix, Illumina [~ 2600000] (imputed)	N
1168	chr8	76478767	76478768	rs2941484	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	8q21.13	HNF4G	rs2941484-T	0.44	4E-17		0.044	[0.034-0.054] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1169	chr8	76573710	76573711	rs2922763	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	8q21.13	HNF4G	rs2922763-T	0.71	6E-8				Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1169	chr8	76615662	76615663	rs4735692	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	8q21.13	HNF4G	rs4735692-A	0.58	4E-10	(Overweight)	1.04	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1169	chr8	76615662	76615663	rs4735692	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	8q21.13	HNF4G	rs4735692-A	0.58	2E-9	(Obesity I)	1.06	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1170	chr8	76752789	76752790	rs1531462	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal atrophy	325 European ancestry older adult individuals	NA	8q21.13	intergenic	rs1531462-?		9E-6				Affymetrix [at least 734550] (imputed)	N
1170	chr8	76806583	76806584	rs17405819	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q21.13	HNF4G	rs17405819-T	0.702	1E-11		0.022	[0.016-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1170	chr8	76806583	76806584	rs17405819	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q21.13	HNF4G	rs17405819-T	0.7	2E-6	(EA, men)	0.021	[0.012-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1170	chr8	76806583	76806584	rs17405819	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q21.13	HNF4G	rs17405819-T	0.7	2E-11	(EA)	0.022	[0.016-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1170	chr8	76806583	76806584	rs17405819	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q21.13	HNF4G	rs17405819-T	0.699	1E-8	(EA, women)	0.024	[0.016-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1176	chr8	77478538	77478539	rs28727938	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	8q21.13	ZFHX4, ZFHX4-AS1	rs28727938-C	0.938	4E-12		1.43	[1.30-1.59]	Illumina [24988228] (imputed)	N
1176	chr8	77507612	77507613	rs7846606	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	8q21.13	NR	rs7846606-?	NR	7E-6	(Meta-All, NSCL/P)			NR [497084]	N
1177	chr8	77611624	77611625	rs4735738	23667675	Tanikawa C	2013-05-07	PLoS One	Genome wide association study of age at menarche in the Japanese population.	Menarche (age at onset)	15,495 Japanese ancestry females	NA	8q21.13	ZFHX4	rs4735738-A	0.49918	5E-6		0.0728	[0.042-0.104] year increase	Illumina [2310762] (imputed)	N
1180	chr8	78093836	78093837	rs7821178	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	8q21.13	PEX2	rs7821178-C	0.65	7E-17		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1180	chr8	78093836	78093837	rs7821178	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	8q21.13	PXMP3	rs7821178-A	0.34	3E-9		2.4	[1.62-3.18] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1181	chr8	78148190	78148191	rs4735677	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	8q21.13	PXMP3	rs4735677-A	0.716	6E-30		0.037	[0.031-0.043] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1181	chr8	78160178	78160179	rs7846385	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	8q21.13	ZFHX4, PXMP3	rs7846385-C	0.27	5E-8		5.0	[3.24-6.76] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1181	chr8	78178484	78178485	rs6473015	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	8q21.13	PEX2	rs6473015-A	0.263	4E-6		0.045	[0.025-0.065] unit decrease	Affymetrix, Illumina [2193675] (imputed)	N
1181	chr8	78178484	78178485	rs6473015	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	8q21.13	PEX2	rs6473015-A	0.72	7E-13		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1182	chr8	78277472	78277473	rs4637816	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	8q21.13	LOC102724874	rs4637816-?		9E-6				Illumina [5970354] (imputed)	N
1182	chr8	78325884	78325885	rs13259667	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	8q21.13	NR	rs13259667-A	0.074	8E-6	(Alcohol dependence)			Illumina [527829]	N
1185	chr8	78680348	78680349	rs3864663	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	8q21.13	PXMP3	rs3864663-?	0.15	2E-6	(Recessive)	1.4	[1.22-1.61]	Affymetrix [319222]	N
1187	chr8	78956657	78956658	rs2219968	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	8q21.13	PKIA	rs2219968-?	NR	6E-7	(rs1571801)	1.3	[1.17-1.43]	Affymetrix, Illumina [1117531] (imputed)	N
1187	chr8	79034458	79034459	rs13272568	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	8q21.13	PKIA	rs13272568-A	0.44	6E-7	(FNBMD)	0.03	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1190	chr8	79401037	79401038	rs1520333	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	8q21.13	IL7, PKIA	rs1520333-G	NR	2E-7		1.1	[1.08-1.11]	Illumina [465434]	N
1196	chr8	80103431	80103432	rs10448044	25917933	Zai CC	2014-11-20	J Psychiatr Res	A genome-wide association study of suicide severity scores in bipolar disorder.	Suicide in bipolar disorder	959 European ancestry individuals	NA	8q21.13	IL7	rs10448044-C		3E-6	(suicide attempt)	4.685	z score increase	Affymetrix, Illumina [2659407] (imputed)	N
1197	chr8	80227447	80227448	rs1460163	19081515	Mead S	2008-12-11	Lancet Neurol	Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.	Creutzfeldt-Jakob disease	117 European ancestry cases, 3,083 European ancestry controls	2 European ancestry vCJD cases, 506 Oceania ancestry sCJD cases, 28 Oceania ancestry iCJD cases, 151 Oceania ancestry Kuru cases, 125 Oceania ancestry Kuru resistant cases, 3,608 European ancestry controls, 562 Oceania ancestry controls	8q21.13	STMN2	rs1460163-A	NR	6E-8				Affymetrix [288908]	N
1199	chr8	80556499	80556500	rs113889867	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	8q21.13	STMN2	rs113889867-?	NR	9E-7	(Response)	1.96	[NR]	Illumina [~ 7000000] (imputed)	N
1202	chr8	80985034	80985035	rs181166265	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	8q21.13	TPD52	rs181166265-C		3E-6		0.2952	unit increase	Illumina [5767231] (imputed)	N
1203	chr8	81031821	81031822	rs10957961	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	8q21.13	TPD52	rs10957961-A		2E-7		0.153	[0.10-0.23] unit increase	Affymetrix [~ 2500000] (imputed)	N
1203	chr8	81058818	81058819	rs7828135	25987243	Parham LR	2015-05-19	Pharmacogenomics J	Comprehensive genome-wide evaluation of lapatinib-induced liver injury yields a single genetic signal centered on known risk allele HLA-DRB1*07:01.	Lapatinib-induced hepatotoxicity	775 European ancestry treated breast cancer cases, 236 East Asian ancestry treated breast cancer cases, 247 treated breast cancer cases	NA	8q21.13	TPD52	rs7828135-?	NR	5E-8	(Maximum ALT, Conditioned on HLA- DRB1*07:01)			Illumina [1085881]	N
1203	chr8	81095394	81095395	rs998731	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	8q21.13	TPD52	rs998731-T	0.56	2E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1203	chr8	81095394	81095395	rs998731	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	8q21.13	TPD52	rs998731-T	0.44	7E-9	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1204	chr8	81228825	81228826	rs11987678	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep duration	2,278 European ancestry individuals	NA	8q21.13	RP11-941H19.3	rs11987678-C	0.05	4E-6		0.32	[0.18-0.46] unit decrease	Illumina [2380486] (imputed)	N
1205	chr8	81268154	81268155	rs6473223	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	8q21.13	ZBTB10, TPD52	rs6473223-T	0.3599	8E-8		0.0668	[0.042-0.091] unit increase	Illumina [2400000] (imputed)	N
1205	chr8	81291878	81291879	rs7009110	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	8q21.13	ZBTB10	rs7009110-T	0.36	4E-9		1.14	[1.09-1.19]	Illumina [up to 4972397] (imputed)	N
1205	chr8	81308149	81308150	rs7000782	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	8q21.13	ZBTB10	rs7000782-A	0.43	1E-6		1.09	[1.05-1.13]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1205	chr8	81357701	81357702	rs400824	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	8q21.13	intergenic	rs400824-?	0.7	9E-6		1.12	[1.06-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1205	chr8	81375456	81375457	rs16907751	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q21.13	ZBTB10	rs16907751-C	0.916	1E-7	(EA)	0.035	[0.022-0.048] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1205	chr8	81375456	81375457	rs16907751	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q21.13	ZBTB10	rs16907751-C	0.913	4E-8	(EA, men)	0.047	[0.031-0.064] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1205	chr8	81375456	81375457	rs16907751	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q21.13	ZBTB10	rs16907751-C	0.912	2E-7		0.033	[0.02-0.045] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1206	chr8	81438419	81438420	rs1051920	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	8q21.13	ZBTB10, RPSAP47	rs1051920-T	0.254	4E-6		1.143	[1.08-1.21]	Illumina [870065]	N
1206	chr8	81461973	81461974	rs440837	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	8q21.13	ZBTB10	rs440837-A	0.78	7E-8	(Women)	0.042	[0.027-0.057] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1206	chr8	81461973	81461974	rs440837	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	8q21.13	ZBTB10	rs440837-A	0.78	3E-9	(Men + Women)	0.028	[0.019-0.037] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1206	chr8	81462296	81462297	rs72689705	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	8q21.13	NR	rs72689705-?	NR	5E-8	(AA)	0.7981	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1206	chr8	81470119	81470120	rs272594	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	8q21.13	RP11-48B3.1, RPSAP47	rs272594-?	NR	1E-6				Illumina [874956]	N
1210	chr8	81986952	81986953	rs5003154	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	6,911 European ancestry cases, 11,818 European ancestry controls	801 cases, 1,307 controls	8q21.13	NR	rs5003154-?	NR	1E-6		1.11	[1.06-1.16]	Illumina [462190]	N
1210	chr8	82027671	82027672	rs10097731	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	8q21.13	PAG1	rs10097731-T	0.15	6E-8		0.025	[0.016-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1211	chr8	82151746	82151747	rs12216812	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		8q21.13	intergenic	rs12216812-?	0.088	3E-9			[NR]	Affymetrix, Illumina [152234]	N
1214	chr8	82445223	82445224	rs16909318	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	8q21.13	LOC646486, FABP4	rs16909318-C	0.88	7E-7	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1215	chr8	82653643	82653644	rs11782652	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	8q21.13	CHMP4C	rs11782652-G	0.07	3E-10			[1.16-1.32]	Illumina [up to 10962898] (imputed)	N
1215	chr8	82653643	82653644	rs11782652	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	8q21.13	CHMP4C, FABP5, PMP2, FABP12, IMPA1, SLC10A5, ZFAND1, SNX16, FABP4	rs11782652-A	0.07	7E-10	(Serious invasive)	1.24	[1.16-1.33]	Illumina [2508744] (imputed)	N
1215	chr8	82653643	82653644	rs11782652	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	8q21.13	CHMP4C, FABP5, PMP2, FABP12, IMPA1, SLC10A5, ZFAND1, SNX16, FABP4	rs11782652-A	0.07	6E-9	(All invasive)	1.19	[1.12-1.26]	Illumina [2508744] (imputed)	N
1217	chr8	82888607	82888608	rs10113213	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	8q21.13	SNX16, RALYL	rs10113213-T	NR	3E-6	(AJC)	1.99	[1.15-2.83] unit decrease	Illumina [586062]	N
1217	chr8	82894305	82894306	rs7839040	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	8q21.13	SNX16, RALYL	rs7839040-G	NR	2E-6	(LJC)	1.81	[1.07-2.55] unit decrease	Illumina [586062]	N
1217	chr8	82928597	82928598	rs7820074	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	8q21.13	NR	rs7820074-?	NR	9E-6	(Meta-All, NSCL/P)			NR [497084]	N
1218	chr8	83073828	83073829	rs13264970	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	8q21.13	SNX16	rs13264970-?	NR	4E-6	(rs1571801)	1.2987	[1.16-1.45]	Affymetrix, Illumina [1117531] (imputed)	N
1223	chr8	83669119	83669120	rs6473383	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	8q21.13	SNX16	rs6473383-?	0.15	3E-6	(EA)	1.19	[0.99-1.44]	Affymetrix, Illumina [2478304] (imputed)	N
1225	chr8	83903813	83903814	rs7015622	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	8q21.13	intergenic	rs7015622-C	0.01	1E-6	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
1225	chr8	83991230	83991231	rs1375785	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	8q21.13	intergenic	rs1375785-A	0.08	8E-6	(2-choice RT)	0.2	[0.10-0.30] unit decrease	Illumina [~ 610000]	N
1234	chr8	85079708	85079709	rs2033732	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q21.2	RALYL	rs2033732-C	0.749	2E-7		0.018	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1234	chr8	85079708	85079709	rs2033732	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q21.2	RALYL	rs2033732-C	0.747	5E-8	(EA)	0.019	[0.012-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1241	chr8	86108148	86108149	rs2403083	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	8q21.2	E2F5	rs2403083-C	0.261	3E-6		0.11	[0.071-0.149] unit decrease	Illumina [2316178] (imputed)	N
1243	chr8	86268312	86268313	rs1532423	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	8q21.2	CA1, CA2, CA3, CA13	rs1532423-A	NR	6E-12		0.178	[0.13-0.23] unit increase	Illumina [> 2500000] (imputed)	N
1248	chr8	87025012	87025013	rs285406	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	8q21.3	ATP6V0D2	rs285406-?	NR	5E-6	(LTG)			Illumina [NR]	N
1249	chr8	87126758	87126759	rs183497284	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8q21.3	NR	rs183497284-?	NR	7E-6	(EA)	1.3425	[0.77-1.92] unit increase	Illumina [up to 11892802] (imputed)	N
1254	chr8	87721348	87721349	rs7814749	25089948	Theusch E	2014-10-01	Pharmacogenet Genomics	Ancestry and other genetic associations with plasma PCSK9 response to simvastatin.	Response to simvastatin treatment (PCSK9 protein level change)	562 European ancestry individuals	287 African American individuals	8q21.3	CNGB3	rs7814749-A	0.371	5E-6	(EA)	0.0913	[NR] unit decrease	Illumina [570422]	N
1262	chr8	88746845	88746846	rs9969524	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	8q21.3	DCAF4L2	rs9969524-T	0.46	2E-8	(EA)	0.03	[0.020-0.040] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1262	chr8	88746845	88746846	rs9969524	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	8q21.3	DCAF4L2	rs9969524-T	0.46	2E-8		0.03	[0.020-0.040] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1263	chr8	88868339	88868340	rs12543318	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	8q21.3	NR	rs12543318-C	NR	2E-8	(Meta-All, NSCL/P)	1.272	[1.106-1.463]	NR [497084]	N
1265	chr8	89188453	89188454	rs6981717	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q21.3	NR	rs6981717-C	NR	9E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1266	chr8	89294321	89294322	rs58605417	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q21.3	NR	rs58605417-G	NR	6E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1267	chr8	89459233	89459234	rs2129782	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	8q21.3	intergenic	rs2129782-?	NR	5E-6	(SCR Amplitude)	0.042	[0.024-0.06] unit increase	Illumina [527829]	N
1268	chr8	89547931	89547932	rs10504861	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	8q21.3	MMP16	rs10504861-?	0.84	1E-8		1.16	[1.11-1.23]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1268	chr8	89585047	89585048	rs7838490	22417934	Athanasiu L	2012-03-12	Psychiatry Res	Genome-wide association study identifies genetic loci associated with body mass index and high density lipoprotein-cholesterol levels during psychopharmacological treatment - a cross-sectional naturalistic study.	Body mass index and cholesterol (psychopharmacological treatment)	283 European ancestry schizophrenia cases, 213 European ancestry bipolar disorder cases, 98 European ancestry psychosis cases	NA	8q21.3	MMP16	rs7838490-?	NR	6E-8	(BMI)		[NR]	Affymetrix [608239]	N
1268	chr8	89588625	89588626	rs7819570	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q21.3	NR	rs7819570-T	NR	2E-8		1.08	[NR]	Illumina [7158791] (imputed)	N
1268	chr8	89588625	89588626	rs7819570	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	8q21.3	MMP16	rs7819570-T	0.174	1E-8		1.079	[1.051-1.108]	Affymetrix, Illumina [9005918] (imputed)	N
1268	chr8	89592082	89592083	rs11995572	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	8q21.3	MMP16	rs11995572-T	0.135	3E-8		1.12	[1.08-1.16]	Affymetrix, Illumina [9871789]	N
1269	chr8	89760310	89760311	rs7004633	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	8q21.3	MMP16	rs7004633-?	0.184	3E-8	(Modelling analysis)			NR [1252901] (imputed)	N
1269	chr8	89760310	89760311	rs7004633	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	8q21.3	MMP16	rs7004633-?	NR	6E-8		1.15	[NR]	Affymetrix [745006]	N
1269	chr8	89760310	89760311	rs7004633	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	8q21.3	MMP16	rs7004633-A	0.18	2E-7		1.11	[1.07-1.15]	Affymetrix, Illumina [1252901] (imputed)	N
1271	chr8	89993487	89993488	rs10429371	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	8q21.3	NR	rs10429371-C	.2142	3E-6		3.8	[NR] unit increase	Illumina [1200000] (imputed)	N
1273	chr8	90211099	90211100	rs2046315	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	8q21.3	intergenic	rs2046315-T	0.1322	8E-8		5.187	[NR] unit increase	Illumina [1200000] (imputed)	N
1273	chr8	90211099	90211100	rs2046315	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Pit-and-Fissure caries	996 European ancestry individuals		8q21.3	intergenic	rs2046315-T	0.1322	7E-7		1.871	[NR] unit increase	Illumina [1200000] (imputed)	N
1273	chr8	90211099	90211100	rs2046315	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	8q21.3	LOC100129100	rs2046315-?	NR	3E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1274	chr8	90342185	90342186	rs4397449	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	8q21.3	RIPK2	rs4397449-?	NR	3E-6	(Animals)			Illumina [up to 563855]	N
1276	chr8	90656987	90656988	rs160441	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	8q21.3	NR	rs160441-T	0.41	8E-6		1.2	[1.10-1.30]	Affymetrix [> 333754] (imputed)	N
1276	chr8	90662940	90662941	rs160451	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	8q21.3	RIPK2	rs160451-C	0.77	1E-21		1.2820514	[NR]	Illumina [4577171] (imputed)	N
1277	chr8	90778512	90778513	rs42490	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	8q21.3	RIPK2	rs42490-G	0.58	1E-16		1.32	[1.23-1.41]	Illumina [491883]	N
1277	chr8	90804327	90804328	rs383592	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	8q21.3	RIPK2	rs383592-G	0.584	2E-35		1.32	[NR]	Illumina [4577171] (imputed)	N
1277	chr8	90823686	90823687	rs40457	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	8q21.3	RIPK2	rs40457-A	0.28	1E-12		1.3	[1.20-1.39]	Illumina [491883]	N
1278	chr8	90875917	90875918	rs7015630	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	8q21.3	NR	rs7015630-A	0.73	3E-8	(EA)	1.0647925		Affymetrix, Illumina [~ 9000000] (imputed)	N
1278	chr8	90875917	90875918	rs7015630	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	8q21.3	NR	rs7015630-G	0.73	9E-10	(EA)	1.0879005		Affymetrix, Illumina [~ 9000000] (imputed)	N
1278	chr8	90875917	90875918	rs7015630	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	8q21.3	RIPK2	rs7015630-T	0.739	1E-8		1.075	[1.035-1.116]	Affymetrix, Illumina [1230000] (imputed)	N
1283	chr8	91570361	91570362	rs1018836	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	8q21.3	NR	rs1018836-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1284	chr8	91652086	91652087	rs10102274	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	8q21.3	TMEM64	rs10102274-?		2E-6		0.853	[NR] unit increase	Illumina [5970354] (imputed)	N
1287	chr8	92075642	92075643	rs4493873	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	8q21.3	intergenic	rs4493873-?	0.64	5E-6		1.14	[1.08-1.2]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1289	chr8	92360395	92360396	rs921231	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	8q21.3	SLC26A7	rs921231-G	0.17	2E-6	(univariate, upper trunk)			Illumina [319818]	N
1289	chr8	92360395	92360396	rs921231	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	8q21.3	SLC26A7	rs921231-G	0.17	1E-6	(multivariate)			Illumina [319818]	N
1290	chr8	92418627	92418628	rs10504906	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	8q21.3	SLC26A7	rs10504906-A	0.07	8E-6	(univariate, arm)			Illumina [319818]	N
1291	chr8	92559914	92559915	rs2657195	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	8q21.3	intergenic	rs2657195-A	0.22	8E-6		0.13	[0.075-0.185] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
1294	chr8	92970152	92970153	rs4500123	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	8q21.3	RUNX1T1	rs4500123-?	NR	6E-6				Perlegen [1871025] (imputed)	N
1296	chr8	93219720	93219721	rs116951791	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	8q21.3	NR	rs116951791-?	NR	7E-7				NR [up to 8466825] (imputed)	N
1302	chr8	94085538	94085539	rs1027730	20732625	Neale BM	2010-08-01	J Am Acad Child Adolesc Psychiatry	Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	2,064 European ancestry trios, 896 European ancestry cases, 2,455 European ancestry controls	NA	8q22.1	intergenic	rs1027730-A	NR	7E-6				Affymetrix, Illumina, Perlegen [1206462] (imputed)	N
1303	chr8	94169349	94169350	rs278567	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	8q22.1	NR	rs278567-?	NR	8E-6		1.247	[NR]	Affymetrix [722112]	N
1303	chr8	94222944	94222945	rs278541	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q22.1	NR	rs278541-C	0.97906300623053	4E-8	(IGP54)	0.8053	[0.52-1.09] unit decrease	Illumina [~ 2500000] (imputed)	N
1303	chr8	94222944	94222945	rs278541	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q22.1	NR	rs278541-C	0.97906300623053	4E-8	(IGP14)	0.8017	[0.52-1.09] unit decrease	Illumina [~ 2500000] (imputed)	N
1304	chr8	94303800	94303801	rs55798256	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8q22.1	LOC100133058, LOC642924	rs55798256-G	0.059	2E-6		3.1	[1.91-5.02]	Illumina [1556551]	N
1304	chr8	94358097	94358098	rs7387468	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	8q22.1	FAM92A1	rs7387468-T	0.587	3E-6	(Novelty seeking)	0.22	unit increase	Affymetrix, Illumina [1252222] (imputed)	N
1307	chr8	94715290	94715291	rs6471393	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	8q22.1	NR	rs6471393-A	NR	7E-6	(phenotype 3)	1.57	[NR]	Illumina [> 8000000] (imputed)	N
1309	chr8	94916102	94916103	rs35820208	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	8q22.1	intergenic	rs35820208-?	NR	3E-6	(SF7)			Affymetrix [5476100] (imputed)	N
1311	chr8	95167246	95167247	rs2514805	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8q22.1	CDH17, LOC100131775, LOC100130524	rs2514805-G	0.118	1E-8		2.95	[2-4.35]	Illumina [1556551]	N
1314	chr8	95582605	95582606	rs12680842	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q22.1	KIAA1429	rs12680842-A	0.666	3E-6		0.015	[0.0085-0.0211] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1316	chr8	95856910	95856911	rs17359493	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	8q22.1	INTS8	rs17359493-G	0.22	1E-7	(AA)	1.13	[1.08-1.18]	Affymetrix, Illumina [2579389] (imputed)	N
1316	chr8	95856910	95856911	rs17359493	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	8q22.1	INTS8	rs17359493-G	0.22	1E-7		1.1	[1.06-1.13]	Affymetrix, Illumina [2579389] (imputed)	N
1316	chr8	95937501	95937502	rs7845219	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	8q22.1	TP53INP1	rs7845219-T	0.53	6E-8		1.08	[1.04-1.12]	Affymetrix, Illumina [2500000] (imputed)	N
1317	chr8	95960510	95960511	rs896854	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	8q22.1	TP53INP1	rs896854-T		1E-9		1.06	[1.04-1.09]	Affymetrix, Illumina [2426886] (imputed)	N
1317	chr8	96024081	96024082	rs7818688	25710658	Diouf B	2015-02-24	JAMA	Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia.	Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia	53 European ancestry cases with peripheral neuropathy, 156 cases without peripheral neuropathy, 10 African ancestry cases with peripheral neuropathy, 33 African ancestry cases without peripheral neuropathy, 1 Asian ancestry case with peripheral neuropathy, 1 Asian ancestry case without peripheral neuropathy, 14 Hispanic cases with peripheral neuropathy, 30 Hispanic cases without peripheral neuropathy, 8 cases with peripheral neuropathy, 15 cases without peripheral neuropathy	NA	8q22.1	NDUFAF6	rs7818688-?	NR	4E-8		4.26	[2.45-7.42]	Affymetrix [1576016] (imputed)	N
1317	chr8	96053999	96054000	rs7818382	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	8q22.1	NDUFAF6	rs7818382-T	0.469	8E-8		1.07	[1.04-1.10]	Illumina [7055881] (imputed)	N
1318	chr8	96106036	96106037	rs4590408	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	8q22.1	C8orf38	rs4590408-G		6E-6		0.2255	unit increase	Illumina [5767231] (imputed)	N
1318	chr8	96106036	96106037	rs4590408	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	8q22.1	C8orf38	rs4590408-G	NR	6E-6		0.2245	unit increase	Illumina [5767231] (imputed)	N
1318	chr8	96120071	96120072	rs4392868	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	8q22.1	PLEKHF2	rs4392868-?	0.09	8E-6				Affymetrix, Illumina [1348798]	N
1318	chr8	96127029	96127030	rs7000734	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	8q22.1	PLEKHF2	rs7000734-?	0.08	4E-7				Affymetrix, Illumina [1348798]	N
1319	chr8	96208725	96208726	rs4484658	26025128	Park HW	2015-05-27	J Allergy Clin Immunol	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.	Bone mineral accretion in asthma (oral corticosteroid dose interaction)	489 European ancestry children	NA	8q22.1	intergenic	rs4484658-?		8E-8				Illumina [NR]	N
1319	chr8	96292040	96292041	rs55821258	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	8q22.1	NR	rs55821258-?	NR	2E-8		0.2167	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1319	chr8	96293102	96293103	rs112505062	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	8q22.1	NR	rs112505062-?	NR	4E-6	(Latino)	0.3738	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1321	chr8	96504471	96504472	rs77742018	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	8q22.1	CNBD1	rs77742018-A	0.946	4E-6		0.117	[0.068-0.166] unit decrease	Illumina [6150213] (imputed)	N
1321	chr8	96515887	96515888	rs1909881	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q22.1	C8orf37	rs1909881-G	0.089	7E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1321	chr8	96595735	96595736	rs3104964	23350875	Fernandez-Rozadilla C	2013-01-26	BMC Genomics	A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.	Colorectal cancer	882 European ancestry cases, 473 European ancestry controls	1,436 European ancestry cases, 1,780 European ancestry controls	8q22.1	NR	rs3104964-?	NR	4E-6		1.265	[1.144-1.398]	Affymetrix [674718]	N
1327	chr8	97263417	97263418	rs7814319	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	8q22.1	NR	rs7814319-?		2E-6	(AA)			Illumina [up to 524000]	N
1327	chr8	97369633	97369634	rs2640806	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q22.1	PTDSS1	rs2640806-A	0.317	5E-6	(Methionine )	0.03	[NR] umol/L increase	Illumina [899892]	N
1328	chr8	97512976	97512977	rs2437772	26114229	Ashley-Koch AE	2015-06-12	J Affect Disord	Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.	Post-traumatic stress disorder	949 non-Hispanic black individuals, 759 European ancestry individuals	NA	8q22.1	SDC2	rs2437772-?	NR	6E-6	EA	1.79	[NR]	Illumina [up to 5616481] (imputed)	N
1331	chr8	97796730	97796731	rs3763558	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	8q22.1	PGCP	rs3763558-A	0.11	1E-6	(NESPAS-ICR)			Illumina [515966]	N
1333	chr8	98154440	98154441	rs17737465	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep duration	2,278 European ancestry individuals	NA	8q22.1	PGCP	rs17737465-G	0.37	2E-6		0.14	[0.081-0.199] unit decrease	Illumina [2380486] (imputed)	N
1333	chr8	98166912	98166913	rs1835740	20802479	Anttila V	2010-08-29	Nat Genet	Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.	Migraine	2,731 European ancestry cases, 10,747 European ancestry controls	3,202 European ancestry cases, 40,062 European ancestry controls	8q22.1	MTDH, PGCP	rs1835740-A	0.21	2E-11		1.18	[1.13-1.24]	Illumina [429912]	N
1334	chr8	98282188	98282189	rs1864729	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	8q22.1	TSPYL5	rs1864729-?	0.098	3E-8		1.589	[1.35-1.871] unit increase	Illumina [563945]	N
1335	chr8	98329764	98329765	rs6468544	20921969	Aberg K	2010-10-05	Pharmacogenomics J	Genome-wide association study of antipsychotic-induced QTc interval prolongation.	Antipsychotic-induced QTc interval prolongation	738 European, African American, Hispanic, and other ancestry Schizophrenia cases	NA	8q22.1	intergenic	rs6468544-?	NR	8E-7	(Risperidone)			Affymetrix [492000]	N
1339	chr8	98850329	98850330	rs11779860	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	8q22.1	LAPTM4B	rs11779860-C	0.47	2E-10		0.61	[0.41-0.81] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1340	chr8	99022008	99022009	rs2444896	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)	218 Japanese ancestry cases, 364 Japanese controls	NA	8q22.2	MATN2	rs2444896-T	0.603	2E-6	(Dominant model)	1.754	[1.355-2.269]	Illumina [733202]	N
1340	chr8	99088580	99088581	rs13278732	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	8q22.2	NR	rs13278732-T	0.27	6E-6		1.31	[1.04-1.65]	Illumina [~ 550000]	N
1341	chr8	99113686	99113687	rs10107366	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q22.2	HRSP12	rs10107366-G	0.0080	6E-7	(Energy balance )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1341	chr8	99129506	99129507	rs2071598	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	8q22.2	NR	rs2071598-?	NR	9E-6		1.2646	[NR]	Illumina [NR] (imputed)	N
1342	chr8	99317738	99317739	rs11785622	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	8q22.2	NIPAL2	rs11785622-T	0.07	4E-6	(AA-glucose response)	7.21	[4.15-10.27] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1347	chr8	99895404	99895405	rs3019286	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide behavior	577 European ancestry cases, 1,233 European ancestry controls	NA	8q22.2	STK3	rs3019286-A	0.36	8E-6		1.402	[1.208-1.626]	Illumina [794207]	N
1351	chr8	100495638	100495639	rs3105169	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	8q22.2	NR	rs3105169-?	NR	8E-6	(females)			Illumina [1211988] (imputed)	N
1354	chr8	100835181	100835182	rs959695	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	8q22.2	intergenic	rs959695-C	0.18	1E-6	(Hippocampal volume)			Illumina [2131250] (imputed)	N
1354	chr8	100897382	100897383	rs13253073	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	8q22.2	VPS13B, COX6C	rs13253073-?		6E-6	(MCRI)	0.35	[0.19-0.51] unit decrease	Illumina [693128]	N
1355	chr8	101024504	101024505	rs7006527	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	8q22.2	RGS22	rs7006527-A	0.858	2E-12		1.32	[NR]	Illumina [24988228] (imputed)	N
1355	chr8	101024504	101024505	rs7006527	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	8q22.2	RGS22	rs7006527-?	0.86	9E-13		1.3	[1.22-1.41]	Illumina [38500000] (imputed)	N
1355	chr8	101024504	101024505	rs7006527	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	8q22.2	RGS22	rs7006527-?		9E-10		1.2987	[1.2-1.43]	Illumina [38500000] (imputed)	N
1358	chr8	101330208	101330209	rs1371867	21041692	Denny JC	2010-11-01	Circulation	Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.	Atrioventricular conduction	2,334 European ancestry individuals	NA	8q22.2	RNF19A, ANKRD46	rs1371867-C	0.42	9E-6		2.32	[1.30-3.34] ms increase	Illumina [514999]	N
1359	chr8	101514576	101514577	rs2844036	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	8q22.3	ANKRD46	rs2844036-A	NR	1E-6	(All)	0.11	[0.067-0.153] unit decrease	Illumina [6900000] (imputed)	N
1360	chr8	101682776	101682777	rs1693575	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	8q22.3	SNX31	rs1693575-?		3E-6		0.363	[NR] unit increase	Illumina [5970354] (imputed)	N
1361	chr8	101807229	101807230	rs36061340	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		8q22.3	intergenic	rs36061340-?	0.05	7E-6		0.15	[0.091-0.209] unit decrease	Illumina [4058415] (imputed)	N
1361	chr8	101813155	101813156	rs3847153	21989058	Qin Y	2011-10-18	Hum Mol Genet	Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).	Premature ovarian failure	391 Han Chinese ancestry cases, 895 Han Chinese ancestry controls	400 Han Chinese ancestry cases, 800 Han Chinese ancestry controls	8q22.3	intergenic	rs3847153-?	0.38	9E-8		1.42	[NR]	Affymetrix [642069]	N
1361	chr8	101841545	101841546	rs3108919	19754311	Le Clerc S	2009-09-15	J Infect Dis	Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).	AIDS	85 European ancestry cases, 2,049 European ancestry controls	NA	8q22.3	intergenic	rs3108919-C	0.27	4E-6		2.13	[1.56-2.91]	Illumina [291119]	N
1362	chr8	101919320	101919321	rs931812	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	8q22.3	YWHAZ	rs931812-C	0.74	5E-6				Perlegen [378332]	N
1362	chr8	101947452	101947453	rs3134353	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q22.3	YWHAZ	rs3134353-T	0.597	7E-6		0.018	[0.0099-0.0251] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1364	chr8	102227922	102227923	rs1264202	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	8q22.3	ZNF706	rs1264202-?	0.31	2E-6	(quetiapine)			Affymetrix [492900]	N
1366	chr8	102375266	102375267	rs16867579	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	8q22.3	FKSG17	rs16867579-A	0.0155	1E-6		8.4163	[NR] unit decrease	Illumina [1216189] (imputed)	N
1366	chr8	102463601	102463602	rs678347	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	8q22.3	GRHL2	rs678347-G	0.42	2E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1366	chr8	102463601	102463602	rs678347	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	8q22.3	GRHL2	rs678347-G	0.27	7E-9	(EA)	1.1	[1.06-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1367	chr8	102596209	102596210	rs6988306	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	8q22.3	GRHL2	rs6988306	0.78	3E-6	(EA)	2.7778	[NR]	Illumina [1795103]	N
1368	chr8	102729474	102729475	rs7816613	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	8q22.3	NCALD	rs7816613-?		8E-6	(PC1)	0.1378	[NR] unit increase	Illumina [4167292] (imputed)	N
1370	chr8	102944862	102944863	rs517811	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	8q22.3	NCALD	rs517811-?	NR	5E-6	(TrailsB)			Illumina [up to 563855]	N
1371	chr8	103048809	103048810	rs7817714	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Cerebral amyloid angiopathy	1,673 cases, 1,134 controls	NA	8q22.3	NCALD	rs7817714-C	0.859	9E-6		0.4448	[0.25-0.64] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1371	chr8	103052376	103052377	rs16868941	21876539	Amin N	2011-08-30	Mol Psychiatry	Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.	Coffee consumption	18,176 European ancestry individuals	7,929 European ancestry individuals	8q22.3	NCALD	rs16868941-A	NR	8E-7		0.056	[0.04-0.08] unit increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1371	chr8	103114572	103114573	rs501344	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	8q22.3	NCALD	rs501344-A	0.4	5E-6		0.03	[0.01-0.05] unit decrease	Illumina [1632371] (imputed)	N
1375	chr8	103547738	103547739	rs2033562	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	8q22.3	KLF10, ODF1	rs2033562-C	0.477	1E-9		1.128	[1.085-1.173]	Illumina [3792949] (imputed)	N
1375	chr8	103578873	103578874	rs2511714	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	8q22.3	ODF1, KLF10	rs2511714-G	0.41	5E-8		1.19	[1.12-1.27]	Illumina [549934]	N
1375	chr8	103639940	103639941	rs6998277	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	8q22.3	intergenic	rs6998277-C	0.21	2E-6		1.07	[1.04-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1376	chr8	103688380	103688381	rs10106298	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q22.3	NR	rs10106298-G	NR	9E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1376	chr8	103800297	103800298	rs2513900	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	8q22.3	AZIN1	rs2513900-C	NR	3E-7	(WAP, All)	0.23	[0.15-0.31] unit increase	Illumina [7600000] (imputed)	N
1377	chr8	103908003	103908004	rs13276960	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q22.3	NR	rs13276960-G	NR	5E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1377	chr8	103932844	103932845	rs1961102	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	8q22.3	AZIN1	rs1961102-T	0.331	3E-9		0.57	[0.37-0.77] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1378	chr8	103975988	103975989	rs6468852	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	8q22.3	intergenic	rs6468852-G	0.13	1E-6				Affymetrix [614963]	N
1379	chr8	104118565	104118566	rs6983777	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	8q22.3	NR	rs6983777-A		8E-6				Illumina [2373249] (imputed)	N
1382	chr8	104573788	104573789	rs75686122	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	8q22.3	RIMS2	rs75686122-?	NR	3E-6	(AA)			Illumina [37426733] (imputed)	N
1388	chr8	105359431	105359432	rs2458413	21623375	Albagha OM	2011-05-29	Nat Genet	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.	Paget's disease	741 European ancestry cases, 2,699 European ancestry controls	1,474 European ancestry cases, 1,671 European ancestry controls	8q22.3	TM7SF4	rs2458413-A	0.58	7E-17		1.4	[1.29-1.51]	Illumina [2487078] (imputed)	N
1391	chr8	105700679	105700680	rs4734806	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	8q22.3	LRP12	rs4734806-G	0.16	6E-6	(Age 20-60 years)	0.2075	[0.12-0.30] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1392	chr8	105841854	105841855	rs1460237	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	8q22.3	intergenic	rs1460237-?		9E-6	(PC1)	0.452	[NR] unit decrease	Illumina [4167292] (imputed)	N
1393	chr8	105957539	105957540	rs16872085	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	8q22.3	ZFPM2	rs16872085-?	0.09	1E-6	(Recessive)	1.83	[1.44-2.33]	Affymetrix [319222]	N
1393	chr8	105958019	105958020	rs284489	22570617	Wiggs JL	2012-04-26	PLoS Genet	Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.	Glaucoma (primary open-angle)	3,146 European ancestry cases, 3,487 European ancestry controls	NA	8q22.3	ZFPM2, LRP12	rs284489-?	NR	9E-10	(NPG)	1.61	[1.39-1.89]	Illumina [495132] (imputed)	N
1393	chr8	105992695	105992696	rs977396	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	8q22.3	intergenic	rs977396-?	0.089	3E-7	(olanzapine-total cholesterol)			Affymetrix [492900]	N
1394	chr8	106142332	106142333	rs9297357	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	8q23.1	ZFPM2	rs9297357-T	NR	4E-7	(Modelling analysis)	1.07	[1.04-1.10]	NR [1252901] (imputed)	N
1397	chr8	106455557	106455558	rs142507408	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8q23.1	NR	rs142507408-?	NR	2E-6	(Native Hawaiian)	1.6373	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1397	chr8	106509974	106509975	rs2622633	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	8q23.1	ZFPM2	rs2622633-A	0.21	6E-6	(AA)	0.2	[0.1-0.3] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1398	chr8	106581527	106581528	rs6993770	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	8q23.1	ZFPM2	rs6993770-A	NR	4E-17		3.668	[2.81-4.52] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1398	chr8	106581527	106581528	rs6993770	21757650	Debette S	2011-07-14	Circ Res	Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.	Vascular endothelial growth factor levels	3,527 European ancestry individuals	1,727 European ancestry individuals	8q23.1	ZFPM2, LRP12	rs6993770-T	0.32	5E-23				Affymetrix [2540233] (imputed)	N
1398	chr8	106590705	106590706	rs4602861	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls	8q23.1	ZFPM2	rs4602861-A	0.766	5E-7		1.2	[1.13-1.27]	Affymetrix, Illumina [6751884] (imputed)	N
1398	chr8	106613320	106613321	rs17217757	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	8q23.1	ZFPM2	rs17217757-G	0.82	3E-6		2.3256	[NR]	Affymetrix [up to 4467279] (imputed)	N
1402	chr8	107089999	107090000	rs12541635	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Age of smoking initiation	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	8q23.1	NR	rs12541635-?		1E-6				Illumina [1211988] (imputed)	N
1407	chr8	107842293	107842294	rs2930491	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	8q23.1	ABRA	rs2930491-?	0.07	5E-7		4.0	[NR]	Affymetrix [4893794] (imputed)	N
1407	chr8	107844446	107844447	rs2981205	23358156	Benyamin B	2013-01-29	Mol Psychiatry	Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.	Intelligence (childhood)	12,441 European ancestry children	5,548 European ancestry children	8q23.1	NR	rs2981205-T	0.226	5E-6		0.06	[0.035-0.085] unit decrease	Affymetrix, Illumina [138093] (imputed)	N
1408	chr8	107909008	107909009	rs4269515	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	8q23.1	ABRA	rs4269515-?	NR	4E-6				Affymetrix, Illumina [~ 1400000] (imputed)	N
1409	chr8	108040351	108040352	rs7004587	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q23.1	intergenic	rs7004587-A	0.0070	3E-6	(HDL )	0.02	[NR] mg/dL increase	Illumina [899892]	N
1409	chr8	108072043	108072044	rs6986153	26629533	Meng W	2015-08-04	EBioMedicine	A Genome-wide Association Study Provides Evidence of Sex-specific Involvement of Chr1p35.1 (ZSCAN20-TLR12P) and Chr8p23.1 (HMGB1P46) With Diabetic Neuropathic Pain.	Neuropathic pain in type 2 diabetes	470 European ancestry male cases, 491 European ancestry female cases, 2,021 European ancestry male controls, 1,239 European ancestry female controls	NA	8q23.1	HMGB1P46	rs6986153-G	0.19	8E-7	(males)	1.67	[1.34-2.08]	Affymetrix, Illumina [6906962] (imputed)	N
1410	chr8	108158382	108158383	rs2584363	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	8q23.1	intergenic	rs2584363-T	0.1921	8E-6	(Ordinal I)	0.3098	[0.17-0.45] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1411	chr8	108281426	108281427	rs6993449	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q23.1	NR	rs6993449-C	0.650415290106952	3E-6	(IGP28)	0.1528	[0.088-0.217] unit increase	Illumina [~ 2500000] (imputed)	N
1411	chr8	108377900	108377901	rs2163870	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	8q23.1	ANGPT1	rs2163870-G	0.35	3E-6		0.057	[0.033-0.081] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
1415	chr8	108789815	108789816	rs4534106	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	8q23.1	intergenic	rs4534106-?	0.30	1E-6				Illumina [448293]	N
1416	chr8	108972297	108972298	rs630662	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	8q23.1	RSPO2	rs630662-A	0.29	2E-6	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
1417	chr8	109096028	109096029	rs374810	25064007	Nakajima M	2014-07-27	Nat Genet	A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.	Ossification of the posterior longitudinal ligament of the spine	1,112 Japanese ancestry cases, 6,810 Japanese ancestry controls	548 Japanese ancestry cases, 6,469 Japanese ancestry controls	8q23.1	RSPO2, EMC2, EIF3E	rs374810-G	0.611	2E-13		1.34	[1.24-1.44]	Illumina [5163786] (imputed)	N
1418	chr8	109228007	109228008	rs611744	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	8q23.1	RSPO2, EIF3E	rs611744-?	0.6	8E-15		1.33	[1.23-1.43]	Illumina [234939]	N
1421	chr8	109629902	109629903	rs2935776	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal T-tau levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	8q23.1	intergenic	rs2935776-C	NR	6E-7	(Controls)			Illumina [498205]	N
1425	chr8	110115675	110115676	rs7832552	19268274	Liu XG	2009-03-04	Am J Hum Genet	Genome-wide association and replication studies identified TRHR as an important gene for lean body mass.	Body mass (lean)	973 European ancestry individuals	1,488 European ancestry individuals,  1,972 European ancestry individuals from 593 families, 2,955 Chinese ancestry individuals	8q23.1	TRHR	rs7832552-T	0.32	4E-10		0.1	[0.04-0.16] kg increase	Affymetrix [379319]	N
1425	chr8	110217265	110217266	rs7823896	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		8q23.1	intergenic	rs7823896-?	0.160	3E-6			[NR]	Affymetrix, Illumina [152234]	N
1426	chr8	110244622	110244623	rs79076257	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	8q23.1	NR	rs79076257-?	NR	2E-7				Affymetrix [5486770] (imputed)	N
1427	chr8	110478821	110478822	rs73313124	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q23.1	PKHD1L1	rs73313124-A	0.0030	3E-6	(Urinary free epinephrine )	0.02	[NR] nmol/d increase	Illumina [899892]	N
1435	chr8	111485760	111485761	rs36068923	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	8q23.2	KCNV1	rs36068923-G	0.197	3E-11		1.0881393	[1.06-1.12]	Affymetrix, Illumina [9005918] (imputed)	N
1435	chr8	111487467	111487468	rs4642619	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q23.2	NR	rs4642619-A	NR	8E-11		1.09	[NR]	Illumina [7158791] (imputed)	N
1442	chr8	112381795	112381796	rs4389974	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q23.3	CSMD3	rs4389974-C	0.526	2E-6		0.014	[0.0084-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1446	chr8	112976140	112976141	rs12549576	22085899	Chen G	2011-11-16	Eur J Hum Genet	UGT1A1 is a major locus influencing bilirubin levels in African Americans.	Bilirubin levels	619 African American individuals	NA	8q23.3	AC068954.1, RP11-58O3.2	rs12549576-G	0.040	1E-6		0.3	[0.18-0.419] unit increase	Affymetrix [808465]	N
1447	chr8	113074095	113074096	rs1996720	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	8q23.3	CSMD3	rs1996720-T	0.275	2E-6	(Reward dependence)	0.11	unit increase	Affymetrix, Illumina [1252222] (imputed)	N
1459	chr8	114662250	114662251	rs60336366	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	8q23.3	intergenic	rs60336366-?		4E-6	(PC2)	0.2742	[NR] unit increase	Illumina [4167292] (imputed)	N
1461	chr8	114873379	114873380	rs1912816	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	8q23.3	CSMD3, TRPS1	rs1912816-A	0.62	6E-6	(Dominant model)	1.2821	[NR]	Illumina [1795103]	N
1461	chr8	114885431	114885432	rs6469488	24280104	Wu AC	2013-11-23	J Allergy Clin Immunol	Inhaled corticosteroid treatment modulates ZNF432 gene variant's effect on bronchodilator response in asthmatics.	Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)	172 European ancestry cases, 409 European ancestry controls	227 European ancestry cases	8q23.3	NR	rs6469488-G	0.07	7E-6				Illumina [449540]	N
1463	chr8	115121026	115121027	rs9942773	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	8q23.3	CSMD3, TRPS1	rs9942773-A	0.703	2E-6	(Orange)	2.07	[1.51-2.82]	Affymetrix [~ 2500000] (imputed)	N
1464	chr8	115324067	115324068	rs13281609	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	8q23.3	CSMD3	rs13281609-T	NR	3E-7	(Pi10, All)	0.044	[0.02-0.06] unit decrease	Illumina [7600000] (imputed)	N
1466	chr8	115578306	115578307	rs7014900	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	8q23.3	TRPS1	rs7014900-?	NR	4E-6	(Trauma exposed controls; AA)			Illumina [up to 871502]	N
1466	chr8	115578306	115578307	rs7014900	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	8q23.3	TRPS1	rs7014900-?	NR	2E-6	(Whole cohort; AA)			Illumina [up to 871502]	N
1467	chr8	115620459	115620460	rs16886173	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	8q23.3	CSMD3, TRPS1	rs16886173-G	0.07	7E-7	(Men)	0.028950978	[0.017-0.04] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1470	chr8	116110724	116110725	rs218361	22911880	Boraska V	2012-08-22	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.	Eating disorders	Up to 2,567 European ancestry individuals	Up to 767 European ancestry cases, up to 486  European ancestry controls	8q23.3	TRPS1	rs218361-G	0.429	7E-6	(WF)	1.061	[1.03-1.08]	Illumina [283744]	N
1472	chr8	116330854	116330855	rs6983039	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q23.3	NR	rs6983039-G	0.971469000267499	9E-6	(IGP34)	0.4445	[0.25-0.64] unit decrease	Illumina [~ 2500000] (imputed)	N
1473	chr8	116394074	116394075	rs17658378	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	8q23.3	intergenic	rs17658378-A	NR	9E-6	(later onset)			Perlegen [429981]	N
1474	chr8	116599198	116599199	rs2293889	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	8q23.3	TRPS1	rs2293889-T	0.41	4E-17		0.031	[NR] unit decrease	NR [NR] (imputed)	N
1474	chr8	116599198	116599199	rs2293889	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	8q23.3	TRPS1	rs2293889-T	0.41	6E-11		0.44	[0.28-0.6] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1474	chr8	116633698	116633699	rs2721937	22472876	Sullivan	2012-04-03	Mol Psychiatry	A mega-analysis of genome-wide association studies for major depressive disorder.	Major depressive disorder	9,240 European ancestry cases, 9,519 European ancestry controls	6,783 European ancestry cases, 50,695 European ancestry controls	8q23.3	TRPS1	rs2721937-?	NR	8E-6				Affymetrix, Illumina, Perlegen [~ 1200000] (imputed)	N
1474	chr8	116648564	116648565	rs2737229	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	8q23.3	TRPS1	rs2737229-C	0.3	2E-8		1.11	[0.7-1.52] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1476	chr8	116813904	116813905	rs800586	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	8q23.3	intergenic	rs800586-?	0.38	2E-7	(CTJC , EA, RF-)	9.78	[NR] unit decrease	Illumina [534053]	N
1481	chr8	117541606	117541607	rs13279799	25064007	Nakajima M	2014-07-27	Nat Genet	A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.	Ossification of the posterior longitudinal ligament of the spine	1,112 Japanese ancestry cases, 6,810 Japanese ancestry controls	548 Japanese ancestry cases, 6,469 Japanese ancestry controls	8q23.3	LINC00536, EIF3H	rs13279799-G	0.319	1E-10		1.28	[1.19-1.38]	Illumina [5163786] (imputed)	N
1481	chr8	117556269	117556270	rs4876662	21223598	Wineinger NE	2011-01-11	BMC Med Genomics	Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.	Aortic root size	1,086 African American individuals	NA	8q23.3	intergenic	rs4876662-?	0.20	2E-6		0.1317	[0.081-0.182] cm increase	Affymetrix [NR]	N
1482	chr8	117574514	117574515	rs140355816	24737748	Whiffin N	2014-04-15	Hum Mol Genet	Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.	Colorectal cancer	5,626 European ancestry cases, 7,817 European ancestry controls	14,037 European ancestry cases, 15,937 European ancestry controls	8q23.3	EIF3H	rs140355816-G	0.017	2E-8		1.591	[NR]	Illumina [NR] (imputed)	N
1482	chr8	117630682	117630683	rs16892766	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	8q23.3	EIF3H	rs16892766-C	0.1	3E-12		1.2048193	[1.15-1.26]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1482	chr8	117630682	117630683	rs16892766	21761138	Peters U	2011-07-15	Hum Genet	Meta-analysis of new genome-wide association studies of colorectal cancer risk.	Colorectal cancer	2,906 European ancestry cases, 3,416 European ancestry controls	8,161 European ancestry cases, 9,101 European ancestry controls	8q23.3	EIF3H	rs16892766-?	0.08	4E-7		1.24	[1.14-1.34]	Illumina [378739]	N
1482	chr8	117630682	117630683	rs16892766	18372905	Tomlinson IP	2008-03-30	Nat Genet	A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.	Colorectal cancer	922 European ancestry cases, 927 European ancestry controls	17,089 European ancestry cases, 16,862 European ancestry controls, 783 cases, 664 controls	8q23.3	EIF3H	rs16892766-A	0.07	3E-18		1.27	[1.20-1.34]	Illumina [547647]	N
1482	chr8	117641609	117641610	rs11987235	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	8q23.3	EIF3H	rs11987235-A	NR	7E-6		0.0384	[0.022-0.055] mm decrease	Illumina [1704858] (imputed)	N
1482	chr8	117647787	117647788	rs6469656	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	8q23.3	NR	rs6469656-A	0.65	5E-8	(East Asian)	1.09	[1.06-1.13]	Affymetrix, Illumina [2400000] (imputed)	N
1482	chr8	117656870	117656871	rs2278491	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q23.3	EIF3H	rs2278491-C	0.878	6E-6	(EA, men)	0.028	[0.016-0.04] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1484	chr8	117848306	117848307	rs76316943	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	8q24.11	EIF3H	rs76316943-A	0.01	2E-11		1.58	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
1485	chr8	118025644	118025645	rs3019885	21814517	Noguchi E	2011-07-21	PLoS Genet	Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.	Asthma	938 Japanese ancestry cases, 2,376 Japanese ancestry controls	1653 East Asian ancestry cases, 1453 East Asian ancestry controls	8q24.11	SLC30A8	rs3019885-G	0.31	5E-13		1.34	[1.24-1.45]	Illumina [450326]	N
1485	chr8	118089512	118089513	rs7815720	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	8q24.11	SLC30A8	rs7815720-A	0.13	2E-6		1.02	[0.61-1.43] mmHg decrease	Illumina [466573]	N
1486	chr8	118150992	118150993	rs11989843	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.11	SLC30A8	rs11989843-G	0.167	8E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1486	chr8	118184782	118184783	rs13266634	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	8q24.11	SLC30A8	rs13266634-A	0.46	2E-7		0.05	[NR] unit decrease	Affymetrix, Illumina [up to 2400000] (imputed)	N
1486	chr8	118184782	118184783	rs13266634	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	8q24.11	SLC30A8	rs13266634-C	0.58	5E-7		1.12	[1.07-1.17]	Illumina [6209637] (imputed)	N
1486	chr8	118184782	118184783	rs13266634	19734900	Rung J	2009-09-06	Nat Genet	Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.	Type 2 diabetes and other traits	679 European ancestry cases, 697 European ancestry controls	5,579 European ancestry cases, 7,096 European ancestry controls	8q24.11	SLC30A8	rs13266634-C	0.68	8E-8		1.16	[1.10-1.22]	Illumina [392365]	N
1486	chr8	118184782	118184783	rs13266634	19401414	Takeuchi F	2009-04-29	Diabetes	Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.	Type 2 diabetes	519 Japanese ancestry cases, 503 Japanese ancestry controls	5,110 Japanese ancestry cases, 6,867 Japanese ancestry controls	8q24.11	SLC30A8	rs13266634-C	0.57	2E-14		1.22	[1.16-1.28]	Illumina [482625]	N
1486	chr8	118184782	118184783	rs13266634	19096518	Pare G	2008-12-19	PLoS Genet	Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.	Glycated hemoglobin levels	14,618 European ancestry females	455 European ancestry individuals	8q24.11	SLC30A8	rs13266634-A	0.30	5E-8		0.02	[NR] % decrease	Illumina [337343]	N
1486	chr8	118184782	118184783	rs13266634	19056611	Timpson NJ	2008-12-03	Diabetes	Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.	Type 2 diabetes	958 European ancestry obese cases, 955 European ancestry non-obese cases, 2,938 European ancestry controls	Up to 3,757 European ancestry cases, up to 5,346 European ancestry controls	8q24.11	SLC30A8	rs13266634-?	NR	7E-6	(non-obese)	1.18	[1.10-1.27]	Affymetrix [393453]	N
1486	chr8	118184782	118184783	rs13266634	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	8q24.11	SLC30A8	rs13266634-C	0.69	5E-8	(DGI+FUSION+WTCCC)	1.12	[1.07-1.16]	Affymetrix [393453]	N
1486	chr8	118184782	118184783	rs13266634	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	8q24.11	SLC30A8	rs13266634-C	0.61	5E-8	(DGI+FUSION+WTCCC)	1.12	[1.07-1.16]	Illumina [315635]	N
1486	chr8	118184782	118184783	rs13266634	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Type 2 diabetes	1,464 European ancestry cases, 1,467 European ancestry controls	5,065 European ancestry cases, 5,785 European ancestry controls	8q24.11	SLC30A8	rs13266634-C	0.65	5E-8	(DGI+FUSION+WTCCC)	1.12	[1.07-1.16]	Affymetrix [386731]	N
1486	chr8	118184782	118184783	rs13266634	17460697	Steinthorsdottir V	2007-04-26	Nat Genet	A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.	Type 2 diabetes	1,399 European ancestry cases, 5,275 European ancestry controls	2,174 European ancestry cases, 7,287 European ancestry controls	8q24.11	SLC30A8	rs13266634-C	0.67	3E-6		1.15	[1.08-1.22]	Illumina [at least 313179]	N
1486	chr8	118184782	118184783	rs13266634	17293876	Sladek R	2007-02-11	Nature	A genome-wide association study identifies novel risk loci for type 2 diabetes.	Type 2 diabetes	661 European ancestry cases, 614 European ancestry controls	2,617 European ancestry cases, 2,894 European ancestry controls	8q24.11	SLC30A8	rs13266634-C	0.70	6E-8		1.18	[0.69-1.67]	Illumina [392935]	N
1486	chr8	118185024	118185025	rs3802177	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	8q24.11	SLC30A8	rs3802177-?	NR	5E-12		0.063	[0.045-0.081] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
1486	chr8	118185024	118185025	rs3802177	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	8q24.11	SLC30A8	rs3802177-G	0.7	2E-18		1.16	[1.11-1.22]	Affymetrix, Illumina [2500000] (imputed)	N
1486	chr8	118185024	118185025	rs3802177	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	8q24.11	SLC30A8	rs3802177-G	0.68	4E-8	(Lean)	1.23	[1.15-1.33]	NR [NR]	N
1486	chr8	118185024	118185025	rs3802177	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	8q24.11	SLC30A8	rs3802177-G		1E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [2426886] (imputed)	N
1486	chr8	118185732	118185733	rs11558471	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	8q24.11	SLC30A8	rs11558471-?	NR	3E-20				Affymetrix, Illumina [~ 2400000] (imputed)	N
1486	chr8	118185732	118185733	rs11558471	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	8q24.11	SLC30A8	rs11558471-A	0.69	3E-18				Affymetrix, Illumina [~ 2500000] (imputed)	N
1486	chr8	118185732	118185733	rs11558471	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	8q24.11	SLC30A8	rs11558471-A	0.31	3E-11	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1489	chr8	118549375	118549376	rs17667932	22446961	Lee YC	2012-03-25	Nat Genet	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.	Kawasaki disease	622 Han Chinese ancestry cases, 1,107 Han Chinese ancestry controls	261 Han Chinese ancestry cases, 550 Han Chinese ancestry controls	8q24.11	MED30	rs17667932-G	0.019	5E-7		2.368	[1.680-3.337]	Affymetrix [716935]	N
1489	chr8	118600121	118600122	rs1351356	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q24.11	NR	rs1351356-T	NR	4E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1490	chr8	118651388	118651389	rs189087047	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8q24.11	NR	rs189087047-?	NR	8E-8	(Latino)	1.6762	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1490	chr8	118651388	118651389	rs189087047	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	8q24.11	NR	rs189087047-?	NR	3E-6	(Latino)	1.3249	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1490	chr8	118707725	118707726	rs3115775	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	8q24.11	MED30, EXT1	rs3115775-C	0.07	8E-6	(men)	0.18	[0.1-0.26] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1491	chr8	118827838	118827839	rs11989122	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	8q24.11	EXT1	rs11989122-T	0.48	6E-6		0.36	[NR] cm decrease	Affymetrix [334546]	N
1492	chr8	118909259	118909260	rs7459527	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.11	EXT1	rs7459527-A	0.093	2E-6	(Cortisol )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1495	chr8	119391408	119391409	rs17749211	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		8q24.12	SAMD12	rs17749211-?		8E-6	(Cluxel size)			Illumina [208975]	N
1498	chr8	119766193	119766194	rs11988997	23143602	Whitcomb DC	2012-11-11	Nat Genet	Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.	Pancreatitis	676 European ancestry cases, 4,507 European ancestry controls	910 European ancestry cases, 4,170 European ancestry controls	8q24.12	NR	rs11988997-T	0.071	6E-6		1.359	[1.21-1.50]	Illumina [625739]	N
1499	chr8	119830679	119830680	rs903614	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	8q24.12	KB-1137H10.1	rs903614-C	0.1	3E-6	(IL8)			Illumina [588352]	N
1499	chr8	119923872	119923873	rs4355801	18455228	Richards JB	2008-04-29	Lancet	Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.	Bone mineral density	2,094 European ancestry female individuals	6,463 European ancestry individuals	8q24.12	TNFRSF11B	rs4355801-A	0.53	8E-10		0.09	[NR] SD decrease	Illumina [314075]	N
1500	chr8	119976541	119976542	rs7839059	23437003	Paternoster L	2013-02-21	PLoS Genet	Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.	Bone mineral density	up to 5,878 European ancestry individuals	up to 1,052 European ancestry individuals	8q24.12	TNFRSF11B	rs7839059-A	0.34	1E-10	(Cortical vBMD)	0.1	[0.061-0.139] unit decrease	Illumina [2401124] (imputed)	N
1500	chr8	119977336	119977337	rs12679857	21980299	Bradfield JP	2011-09-29	PLoS Genet	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Type 1 diabetes	9,934 European ancestry cases, 16,956 European ancestry controls	1,120 European ancestry affected trios	8q24.12	TNFRSF11B	rs12679857-?	0.69	4E-7		1.2	[NR]	Affymetrix, Illumina [~ 2540000] (imputed)	N
1500	chr8	119977791	119977792	rs2062375	20548944	Hsu YH	2010-06-10	PLoS Genet	An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.	Osteoporosis-related phenotypes	2,038 European ancestry female individuals, 1,531 European ancestry male individuals	5,595 European ancestry female individuals, 2,126 European ancestry male individuals	8q24.12	TNFRSF11B	rs2062375-G	0.45	3E-11	(LS BMD, women)	0.14	[NR] g/cm2 increase	Affymetrix [433510]	N
1500	chr8	120007419	120007420	rs2062377	23437003	Paternoster L	2013-02-21	PLoS Genet	Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.	Bone mineral density	up to 5,878 European ancestry individuals	up to 1,052 European ancestry individuals	8q24.12	TNFRSF11B	rs2062377-A	0.57	1E-7	(Cortical vBMD)	0.08	[0.041-0.119] unit decrease	Illumina [2401124] (imputed)	N
1500	chr8	120007419	120007420	rs2062377	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	8q24.12	TNFRSF11B	rs2062377-A	0.57	3E-39	(LSBMD)	0.08	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1500	chr8	120007419	120007420	rs2062377	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	8q24.12	TNFRSF11B	rs2062377-T	0.44	4E-16		0.09	[0.07-0.11] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
1500	chr8	120012699	120012700	rs11995824	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	8q24.12	TNFRSF11B	rs11995824-G	0.55	7E-9		0.07	[0.05-0.09] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
1500	chr8	120013275	120013276	rs4424296	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	8q24.12	TNFRSF11B	rs4424296-?	NR	9E-14	(spine)			Affymetrix, Illumina [5842825] (imputed)	N
1500	chr8	120044828	120044829	rs6469804	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	8q24.12	OPG	rs6469804-A	0.51	7E-15		0.12	[0.09-0.15] s.d. decrease	Illumina [301019]	N
1500	chr8	120052237	120052238	rs6993813	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (hip)	5,861 European ancestry individuals	7,925 European ancestry individuals	8q24.12	OPG	rs6993813-C	0.50	3E-11		0.09	[0.07-0.12] s.d. decrease	Illumina [301019]	N
1501	chr8	120063541	120063542	rs2450083	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	8q24.12	COLEC10, TNFRSF11B	rs2450083-T	NR	3E-8	(EA)	0.0959	[0.062-0.13] unit increase	Illumina [~ 2500000] (imputed)	N
1501	chr8	120063541	120063542	rs2450083	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	8q24.12	COLEC10, TNFRSF11B	rs2450083-T	0.47	2E-11		0.102	[0.073-0.131] unit increase	Illumina [~ 2500000] (imputed)	N
1501	chr8	120143038	120143039	rs6989684	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	8q24.12	COLEC10, MAL2	rs6989684-?	NR	4E-6	(SBP,CPD)			Affymetrix [2485435] (imputed)	N
1501	chr8	120143038	120143039	rs6989684	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	8q24.12	COLEC10, MAL2	rs6989684-?	NR	2E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1502	chr8	120200701	120200702	rs2468186	25080503	Kwan JS	2014-07-30	Hum Mol Genet	Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.	Osteoprotegerin levels	4,158 European ancestry males, 531 South Tyrol males, 4,253 European ancestry females, 692 South Tyrol females, 702 Han Chinese ancestry females	NA	8q24.12	COLEC10, MAL2, TNFRSF11B	rs2468186-T	0.623	8E-9	(Female-specific)	0.04	[0.026-0.054] unit increase	Affymetrix, Illumina [up to 2544063] (imputed)	N
1502	chr8	120212989	120212990	rs1425053	25080503	Kwan JS	2014-07-30	Hum Mol Genet	Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.	Osteoprotegerin levels	4,158 European ancestry males, 531 South Tyrol males, 4,253 European ancestry females, 692 South Tyrol females, 702 Han Chinese ancestry females	NA	8q24.12	COLEC10, MAL2, TNFRSF11B	rs1425053-A	0.607	8E-15	(Sex-combined)	0.037	[0.028-0.046] unit increase	Affymetrix, Illumina [up to 2544063] (imputed)	N
1502	chr8	120224805	120224806	rs1364705	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	8q24.12	MAL2	rs1364705-?	NR	9E-6				Illumina [516645]	N
1503	chr8	120353266	120353267	rs2469997	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	8q24.12	NOV	rs2469997-?,rs6469823-?	(GC)	3E-16				Affymetrix [405022]	N
1503	chr8	120435811	120435812	rs2071518	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	8q24.12	NOV	rs2071518-T	0.17	4E-9	(Pulse Pressure)	0.312	[0.21-0.41] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1504	chr8	120556573	120556574	rs10102546	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking cessation	366 Bangladeshi ancestry former smoker males, 87 Bangladeshi ancestry former smoker females, 1,471 Bangladeshi ancestry current smoker males, 111 Bangladeshi ancestry current smoker females	NA	8q24.12	NR	rs10102546-?		7E-6				Illumina [1211988] (imputed)	N
1505	chr8	120647928	120647929	rs7007970	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	8q24.12	ENPP2	rs7007970-C	0.73	6E-6		0.041	[0.023-0.059] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1507	chr8	120953872	120953873	rs7005380	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	8q24.12	NR	rs7005380-G	0.63	2E-7		1.25	[1.15-1.37]	Illumina [439828]	N
1508	chr8	121006827	121006828	rs7836436	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	8q24.12	DEPDC6	rs7836436-G	0.05	3E-6	(Xin)	1.401	unit decrease	Illumina [up to 528294]	N
1509	chr8	121218600	121218601	rs10955961	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	8q24.12	COL14A1	rs10955961-?	NR	3E-7				Affymetrix [5486770] (imputed)	N
1511	chr8	121376345	121376346	rs10955971	25317112	Oh S	2014-09-30	Genomics Inform	Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.	Gastritis	977 Korean ancestry female cases, 3,622 Korean ancestry female controls, 804 Korean ancestry male cases, 3,335 Korean ancestry male controls	NA	8q24.12	COL14A1, MRPL13	rs10955971-T	NR	2E-6	(Females)	1.319	[NR]	NR [349184]	N
1511	chr8	121501722	121501723	rs7826906	25317112	Oh S	2014-09-30	Genomics Inform	Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.	Gastritis	977 Korean ancestry female cases, 3,622 Korean ancestry female controls, 804 Korean ancestry male cases, 3,335 Korean ancestry male controls	NA	8q24.12	intergenic	rs7826906-G	NR	3E-6	(Females)	1.316	[NR]	NR [349184]	N
1512	chr8	121562417	121562418	rs7839488	23406873	Shi Y	2013-02-28	Hum Mol Genet	A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.	Myopia (pathological)	665 Han Chinese ancestry cases, 960 Han Chinese ancestry controls	2,128 Han Chinese ancestry cases, 3,683 Han Chinese ancestry controls	8q24.12	SNTB1	rs7839488-?,rs4395927-?,rs4455882-?	0.728	8E-12	(rs7839488-G, rs4395927-C, rs4455882-A)	1.31	[1.22-1.42]	Illumina [286031]	N
1512	chr8	121562417	121562418	rs7839488	23406873	Shi Y	2013-02-28	Hum Mol Genet	A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.	Myopia (pathological)	665 Han Chinese ancestry cases, 960 Han Chinese ancestry controls	2,128 Han Chinese ancestry cases, 3,683 Han Chinese ancestry controls	8q24.12	SNTB1	rs7839488-?,rs4395927-?,rs4455882-?	0.235	4E-10	(rs7839488-A, rs4395927-T, rs4455882-G)	1.3	[1.2-1.41]	Illumina [286031]	N
1512	chr8	121562417	121562418	rs7839488	23406873	Shi Y	2013-02-28	Hum Mol Genet	A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.	Myopia (pathological)	665 Han Chinese ancestry cases, 960 Han Chinese ancestry controls	2,128 Han Chinese ancestry cases, 3,683 Han Chinese ancestry controls	8q24.12	SNTB1	rs4455882-A	0.765	2E-11		1.32	[1.22-1.43]	Illumina [286031]	N
1512	chr8	121568920	121568921	rs4395927	23406873	Shi Y	2013-02-28	Hum Mol Genet	A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.	Myopia (pathological)	665 Han Chinese ancestry cases, 960 Han Chinese ancestry controls	2,128 Han Chinese ancestry cases, 3,683 Han Chinese ancestry controls	8q24.12	SNTB1	rs7839488-?,rs4395927-?,rs4455882-?	0.728	8E-12	(rs7839488-G, rs4395927-C, rs4455882-A)	1.31	[1.22-1.42]	Illumina [286031]	N
1512	chr8	121568920	121568921	rs4395927	23406873	Shi Y	2013-02-28	Hum Mol Genet	A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.	Myopia (pathological)	665 Han Chinese ancestry cases, 960 Han Chinese ancestry controls	2,128 Han Chinese ancestry cases, 3,683 Han Chinese ancestry controls	8q24.12	SNTB1	rs7839488-?,rs4395927-?,rs4455882-?	0.235	4E-10	(rs7839488-A, rs4395927-T, rs4455882-G)	1.3	[1.2-1.41]	Illumina [286031]	N
1512	chr8	121583282	121583283	rs4455882	23406873	Shi Y	2013-02-28	Hum Mol Genet	A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.	Myopia (pathological)	665 Han Chinese ancestry cases, 960 Han Chinese ancestry controls	2,128 Han Chinese ancestry cases, 3,683 Han Chinese ancestry controls	8q24.12	SNTB1	rs7839488-?,rs4395927-?,rs4455882-?	0.728	8E-12	(rs7839488-G, rs4395927-C, rs4455882-A)	1.31	[1.22-1.42]	Illumina [286031]	N
1512	chr8	121583282	121583283	rs4455882	23406873	Shi Y	2013-02-28	Hum Mol Genet	A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.	Myopia (pathological)	665 Han Chinese ancestry cases, 960 Han Chinese ancestry controls	2,128 Han Chinese ancestry cases, 3,683 Han Chinese ancestry controls	8q24.12	SNTB1	rs7839488-?,rs4395927-?,rs4455882-?	0.235	4E-10	(rs7839488-A, rs4395927-T, rs4455882-G)	1.3	[1.2-1.41]	Illumina [286031]	N
1512	chr8	121610437	121610438	rs6469937	23933737	Khor CC	2013-08-09	Hum Mol Genet	Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.	Myopia (severe)	1,603 East Asian ancestry cases, 3,427 East Asian ancestry controls	1,241 East Asian ancestry cases, 3,559 East Asian ancestry controls	8q24.12	SNTB1	rs6469937-A	0.764	2E-9		1.27	[NR]	Illumina [250531]	N
1513	chr8	121635395	121635396	rs6986718	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	8q24.12	NR	rs6986718-?	NR	9E-6		1.5223	[NR]	Affymetrix [722112]	N
1513	chr8	121694649	121694650	rs11989782	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	8q24.12	NR	rs11989782-A	0.23	7E-6		1.53	[1.21-1.93]	Illumina [~ 550000]	N
1517	chr8	122182309	122182310	rs1604897	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q24.12	NR	rs1604897-C	0.836453155525847	8E-6	(IGP28)	0.1864	[0.1-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
1517	chr8	122210889	122210890	rs7819988	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	8q24.12	SNTB1	rs7819988-T	0.55	3E-6	(Age 20-60 years)	1.32	[1.17-1.48]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1517	chr8	122275905	122275906	rs7834765	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	8q24.12	intergenic	rs7834765-T	NR	1E-6	(Recessive)	3.15	[1.97-5.03]	Affymetrix, Illumina [1621689] (imputed)	N
1520	chr8	122621908	122621909	rs11995252	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.13	HAS2	rs11995252-G	0.047	5E-6	(Folate )	0.03	[NR] nmol/L increase	Illumina [899892]	N
1520	chr8	122622499	122622500	rs17232789	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	8q24.13	HAS2	rs17232789-?	0.63	6E-6		1.59	[1.30-1.92]	Affymetrix [832357]	N
1521	chr8	122697131	122697132	rs3870371	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	8q24.13	HAS2AS, HAS2	rs3870371-?	0.32	6E-6	(PD1)	2.15	[NR]	Illumina [~ 1400000] (imputed)	N
1521	chr8	122706290	122706291	rs279612	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	8q24.13	intergenic	rs279612-G	NR	7E-6		0.2138	unit decrease	Illumina [5767231] (imputed)	N
1522	chr8	122908502	122908503	rs7844723	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	8q24.13	intergenic	rs7844723-?	0.45	2E-6	(Hgb)			Affymetrix [70897]	N
1522	chr8	122909686	122909687	rs956225	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	8q24.13	intergenic	rs956225-A	NR	9E-6		3.33	[1.96-5.56]	Illumina [2505093] (imputed)	N
1523	chr8	122963214	122963215	rs907121	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Weight	1,780 Filipino ancestry females	NA	8q24.13	intergenic	rs907121-C	0.57	2E-6		1.83	[1.08-2.58] kg increase	Affymetrix [2073674] (imputed)	N
1523	chr8	122982837	122982838	rs12542166	24578207	Opherk C	2014-02-27	Stroke	Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.	White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy	466 European ancestry individuals	NA	8q24.13	NR	rs12542166-C	NR	6E-6		0.1056	[NR] unit increase	Affymetrix [583499]	N
1526	chr8	123408090	123408091	rs11781551	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	8q24.13	ZHX2	rs11781551-A	0.48	2E-11	(cIMT)	0.0078	[0.01-0.01] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1528	chr8	123706154	123706155	rs4871297	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	8q24.13	RP11-973F15.1	rs4871297-A	0.52	2E-6	(ESRD)	1.23	[1.14-1.35]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1530	chr8	123881217	123881218	rs6470120	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Nicotine use	7,188 European ancestry individuals	NA	8q24.13	NR	rs6470120-A	0.331	7E-7		6.251	[NR] unit decrease	Illumina [527829]	N
1530	chr8	123973067	123973068	rs10108684	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	8q24.13	ZHX2	rs10108684-?		1E-8	(AA)			Illumina [NR]	N
1532	chr8	124185969	124185970	rs6988636	24578125	Olden M	2014-02-27	J Am Soc Nephrol	Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.	Urinary uromodulin levels	10,884 European ancestry individuals	NA	8q24.13	FAM83A	rs6988636-T	0.92	9E-7		0.13	[0.071-0.189] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1536	chr8	124659328	124659329	rs11991744	25055868	Sano M	2014-07-23	Hum Mol Genet	Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.	Electrocardiographic traits	2,994 Japnese ancestry individuals	6,805 Korean ancestry individuals	8q24.13	KLHL38	rs11991744-C	0.267	1E-7	(QRS)	0.787	[NR] unit decrease	Illumina [~ 2500000]	N
1536	chr8	124696866	124696867	rs2294015	21184583	Zlojutro M	2010-11-02	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.	Event-related brain oscillations	431 European ancestry alcohol dependence cases, 340 European ancestry controls, 209 African American alcohol dependence cases, 84 African American controls	683 alcohol dependence cases and 412 controls from multiplex families	8q24.13	ANXA13	rs2294015-G	0.33	9E-6		0.211	[0.12-0.30] uV increase	Illumina [951071]	N
1536	chr8	124714721	124714722	rs13258681	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	8q24.13	ANXA13	rs13258681-?	NR	4E-6	(rs7127900)	1.32	[1.17-1.48]	Affymetrix, Illumina [1117531] (imputed)	N
1536	chr8	124765701	124765702	rs10088262	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	8q24.13	FAM91A1	rs10088262-A	0.34	4E-6	(dominant)	1.4	[1.21-1.61]	Illumina [420236]	N
1537	chr8	124831833	124831834	rs10481151	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	8q24.13	FAM91A1	rs10481151-?	0.1414	4E-7	(PRM)			Illumina [475971]	N
1543	chr8	125697672	125697673	rs2116081	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	8q24.13	MTSS1	rs2116081-T	0.429	6E-6	(Stroop)	0.1354	[0.077-0.194] unit increase	Affymetrix [> 371951] (imputed)	N
1544	chr8	125721365	125721366	rs11781525	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q24.13	NR	rs11781525-G	0.97440182935123	6E-6	(IGP59)	0.6033	[0.34-0.87] unit increase	Illumina [~ 2500000] (imputed)	N
1546	chr8	126013133	126013134	rs13268726	24931836	Diekstra FP	2014-06-27	Ann Neurol	C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.	Amyotrophic lateral sclerosis	4,377 European ancestry cases, 13,017 European ancestry controls	NA	8q24.13	SQLE, KIAA0196, NSMCE2	rs13268726-?	0.10	5E-6		1.25	[NR]	Illumina [~ 1400000] (imputed)	N
1546	chr8	126082564	126082565	rs12546767	24931836	Diekstra FP	2014-06-27	Ann Neurol	C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.	Amyotrophic lateral sclerosis or frontotemporal dementia	4,377 European ancestry ALS cases, 435 European ancestry FTD cases, 14,431 European ancestry controls	4,056 European ancestry ALS cases, 3,958 European ancestry controls	8q24.13	SQLE, NSMCE2, KIAA0196	rs12546767-?	0.90	1E-7		1.22	[NR]	Illumina [~ 1400000] (imputed)	N
1549	chr8	126477977	126477978	rs2001945	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Triglycerides	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	8q24.13	intergenic	rs2001945-C	0.42	1E-20		0.0405	[0.032-0.049] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
1549	chr8	126479314	126479315	rs6982636	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	8q24.13	TRIB1	rs6982636-?	NR	7E-12	(APOB.assay, whole)	1.95	[NR] unit decrease	Illumina [335603]	N
1549	chr8	126479314	126479315	rs6982636	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	8q24.13	TRIB1	rs6982636-?	NR	1E-9	(TG.assay, whole)	0.033	[NR] unit decrease	Illumina [335603]	N
1549	chr8	126481474	126481475	rs2980879	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	8q24.13	TRIB1	rs2980879-T	0.69	1E-9		0.03	[0.022-0.038] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1549	chr8	126481474	126481475	rs2980879	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	8q24.13	TRIB1	rs2980879-T	0.70	7E-9		0.03	[0.020-0.040] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1549	chr8	126482076	126482077	rs2954021	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	8q24.13	TRIB1	rs2954021-A	0.50	2E-13		1.4	[0.50-2.30] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1549	chr8	126482076	126482077	rs2954021	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alanine transaminase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	8q24.13	TRIB1	rs2954021-A	0.50	5E-9		1.6	[0.60-2.60] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1549	chr8	126482076	126482077	rs2954021	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	8q24.13	TRIB1	rs2954021-G	0.50	1E-7		0.02	[0.01-0.03] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1549	chr8	126482620	126482621	rs2954022	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	8q24.13	TRIB1	rs2954022-A	0.48	1E-9		0.036	[0.024-0.048] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1550	chr8	126484525	126484526	rs2954026	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	HDL Cholesterol - Triglycerides (HDLC-TG)	22,161 European ancestry individuals	NA	8q24.13	TRIB1	rs2954026-G	NR	8E-9		0.16	[0.10-0.22] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1550	chr8	126486408	126486409	rs17321515	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	8q24.13	TRIB1	rs17321515-A	0.47	8E-7	(LDL)	0.07	mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
1550	chr8	126486408	126486409	rs17321515	18193044	Kathiresan S	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	Triglycerides	2,758 individuals	18,544 individuals	8q24.13	TRIB1	rs17321515-G	0.49	4E-17		0.08	[0.06-0.10] percentage SD decrease	Affymetrix [389878]	N
1550	chr8	126486408	126486409	rs17321515	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	Triglycerides	8,684 European ancestry individuals	9,741 European ancestry individuals	8q24.13	TRIB1	rs17321515-A	0.56	7E-13		6.42	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	8q24.13	TRIB1	rs2954029-T	0.47	1E-107		0.076	[NR] mg/dL decrease	NR [NR] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	8q24.13	TRIB1	rs2954029-T	0.47	2E-50		0.056	[NR] unit decrease	NR [NR] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	8q24.13	TRIB1	rs2954029-T	0.47	3E-29		0.04	[NR] unit increase	NR [NR] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	8q24.13	TRIB1	rs2954029-T	0.47	2E-65		0.062	[NR] unit decrease	NR [NR] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	8q24.13	TRIB1	rs2954029-T	0.46	2E-11		0.04	[0.03-0.05] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	8q24.13	TRIB1	rs2954029-T	0.47	3E-55		5.64	[4.88-6.4] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	8q24.13	TRIB1	rs2954029-A	0.46	3E-29		1.84	[1.51-2.17] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	8q24.13	TRIB1	rs2954029-T	0.44	6E-19		0.61	[0.47-0.75] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	8q24.13	TRIB1	rs2954029-A	0.46	5E-36		2.3	[1.93-2.67] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1550	chr8	126490971	126490972	rs2954029	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Triglycerides	8,993 Japanese ancestry individuals	NA	8q24.13	TRIB1	rs2954029-T	0.53	3E-7		0.076	[0.047-0.105] unit decrease	Illumina [561583]	N
1550	chr8	126490971	126490972	rs2954029	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	8q24.13	TRIB1	rs2954029-T	0.44	3E-19		0.11	[0.07-0.15] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1550	chr8	126493745	126493746	rs2954033	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Triglycerides-Blood Pressure (TG-BP)	22,161 European ancestry individuals	NA	8q24.13	TRIB1	rs2954033-A	NR	9E-9		0.17	[0.11-0.23] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1550	chr8	126504725	126504726	rs6987702	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	8q24.13	TRIB1	rs6987702-G	0.29	3E-6		0.07	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
1550	chr8	126504725	126504726	rs6987702	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	8q24.13	TRIB1	rs6987702-G	0.29	3E-9		0.07	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
1550	chr8	126506693	126506694	rs112875651	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	8q24.13	TRIB1	rs112875651-G	0.6	4E-26		0.066	[0.054-0.078] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1550	chr8	126506693	126506694	rs112875651	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	8q24.13	TRIB1	rs112875651-G	0.6	1E-38		0.08	[0.068-0.092] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1550	chr8	126507388	126507389	rs2954038	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	8q24.13	NSMCE2, KIAA0196, TRIB1	rs2954038-C	0.32	7E-6	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
1550	chr8	126523522	126523523	rs4360309	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Triglycerides	1,678 Mexican ancestry high triglyceride cases, 1,645 Mexican ancestry low triglyceride controls	2,129 Mexican ancestry high triglyceride cases, 2,985 Mexican ancestry low triglyceride controls, 903 Mexican ancestry individuals from 73 dyslipidemic families	8q24.13	LINC00861, TRIB1	rs4360309-T	NR	7E-9		1.35	[1.19-1.53]	Illumina [1661241] (imputed)	N
1550	chr8	126534670	126534671	rs921720	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	8q24.13	NR	rs921720-A	0.62	1E-21	(EA)	1.1255294		Affymetrix, Illumina [~ 9000000] (imputed)	N
1550	chr8	126534670	126534671	rs921720	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.13	TRIB1	rs921720-A	0.414	3E-6	(Gestational age )	0.05	[NR] wk increase	Illumina [899892]	N
1550	chr8	126534670	126534671	rs921720	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	8q24.13	TRIB1	rs921720-G	0.609	8E-20		1.081	[1.049-1.113]	Affymetrix, Illumina [1230000] (imputed)	N
1550	chr8	126536136	126536137	rs10956252	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	8q24.13	NR	rs10956252-?	NR	2E-16	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1550	chr8	126537569	126537570	rs4871611	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	8q24.13	intergenic	rs4871611-A	0.609	2E-12		1.17	[1.12-1.23]	Affymetrix, Illumina [953241] (imputed)	N
1550	chr8	126540050	126540051	rs1551398	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	8q24.13	intergenic	rs1551398-A	0.62	5E-9		1.08	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1552	chr8	126867504	126867505	rs4006531	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	8q24.13	LOC100130231	rs4006531-A		7E-7		0.11	[0.07-0.16] unit increase	Affymetrix [~ 2500000] (imputed)	N
1554	chr8	127092881	127092882	rs1906493	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	8q24.13	intergenic	rs1906493-A	0.432	3E-6		1.19	[1.09-1.28]	Affymetrix, Illumina [1060934] (imputed)	N
1556	chr8	127332656	127332657	rs11986011	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	8q24.21	intergenic	rs11986011-T	0.02	5E-6		2.5	[1.68-3.71]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1556	chr8	127332656	127332657	rs11986011	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	8q24.21	FAM84B	rs11986011-T	0.02	5E-6	(EA)	2.5	[1.68-3.71]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1560	chr8	127902002	127902003	rs4871750	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.21	FAM84B	rs4871750-A	0.383	4E-7	(Bone mineral content )	0.04	[NR] kg increase	Illumina [899892]	N
1560	chr8	127911595	127911596	rs2220321	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.21	FAM84B	rs2220321-A	0.385	8E-6	(BMD )	0.03	[NR] g/cm2 increase	Illumina [899892]	N
1561	chr8	128011936	128011937	rs10086908	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs10086908-T	0.71	2E-12		1.17	[1.12-1.22]	Affymetrix [up to 19977088] (imputed)	N
1561	chr8	128011936	128011937	rs10086908	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs10086908-T	0.71	2E-10	(European)	1.17	[1.12-1.23]	Affymetrix [up to 19977088] (imputed)	N
1562	chr8	128077145	128077146	rs77541621	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs77541621-A	0.022	2E-26	(conditioned, EA)	2.0408163	[1.79-2.33]	Affymetrix [up to 19977088] (imputed)	N
1562	chr8	128093296	128093297	rs1016343	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs1016343-T	0.21	6E-21		1.25	[1.19-1.30]	Affymetrix [up to 19977088] (imputed)	N
1562	chr8	128093296	128093297	rs1016343	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs1016343-T	0.21	5E-21	(European)	1.28	[1.21-1.34]	Affymetrix [up to 19977088] (imputed)	N
1562	chr8	128093296	128093297	rs1016343	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	8q24.21	intergenic	rs1016343-T	NR	4E-10		1.31	[1.20-1.42]	Illumina [571243]	N
1562	chr8	128093296	128093297	rs1016343	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	8q24.21	intergenic	rs1016343-T	0.18	1E-7		1.37	[NR]	Illumina [541129]	N
1562	chr8	128095155	128095156	rs13252298	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs13252298-A	0.71	2E-6		1.11	[1.06-1.16]	Affymetrix [up to 19977088] (imputed)	N
1562	chr8	128095155	128095156	rs13252298	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	8q24.21	intergenic	rs13252298-A	NR	4E-6	(conditioned on 5 SNPs)	1.12	[1.05-1.18]	Illumina [571243]	N
1562	chr8	128103936	128103937	rs1456315	23023329	Xu J	2012-09-30	Nat Genet	Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 and 19q13.4.	Prostate cancer	1,417 Han Chinese ancestry cases, 1,008 Han Chinese ancestry controls	3,067 Han Chinese ancestry cases, 7,926 Han Chinese ancestry controls	8q24.21	intergenic	rs1456315-?	NR	1E-12				Illumina [587294]	N
1562	chr8	128103936	128103937	rs1456315	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	8q24.21	intergenic	rs1456315-?	NR	2E-29				Illumina [510687]	N
1562	chr8	128103968	128103969	rs72725879	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs72725879-T	0.667	3E-8	(conditioned, East Asian)	1.92	[1.54-2.44]	Affymetrix [up to 19977088] (imputed)	N
1562	chr8	128104342	128104343	rs13254738	22923026	Cheng I	2012-08-24	Cancer Epidemiol Biomarkers Prev	Evaluating genetic risk for prostate cancer among Japanese and Latinos.	Prostate cancer	1,033 Japanese ancestry cases, 1,042 Japanese ancestry controls, 1,043 Latino cases, 1,057 Latino controls	1,583 Japanese ancestry cases, 3,386 Japanese ancestry  controls, 1,854 European ancestry cases, 3,748 European ancestry controls	8q24.21	NR	rs13254738-C	0.54	4E-10	(Japanese)	1.59	[1.38-1.84]	Illumina [528023]	N
1562	chr8	128106783	128106784	rs12682344	24753544	Knipe DW	2014-04-21	Cancer Epidemiol Biomarkers Prev	Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.	Prostate cancer	1,146 European ancestry cases, 1,804 European ancestry controls	1,854 European ancestry cases, 1,437 European ancestry controls	8q24.21	SRRM1P1, POU5F1B	rs12682344-G		5E12		0.67	[0.48-0.86] unit increase	Illumina [514432] (imputed)	N
1562	chr8	128106879	128106880	rs6983561	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs6983561-C	0.035	6E-22		1.45	[1.34-1.56]	Affymetrix [up to 19977088] (imputed)	N
1562	chr8	128106879	128106880	rs6983561	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs6983561-C	0.035	5E-19	(European)	1.61	[1.45-1.78]	Affymetrix [up to 19977088] (imputed)	N
1562	chr8	128106879	128106880	rs6983561	22923026	Cheng I	2012-08-24	Cancer Epidemiol Biomarkers Prev	Evaluating genetic risk for prostate cancer among Japanese and Latinos.	Prostate cancer	1,033 Japanese ancestry cases, 1,042 Japanese ancestry controls, 1,043 Latino cases, 1,057 Latino controls	1,583 Japanese ancestry cases, 3,386 Japanese ancestry  controls, 1,854 European ancestry cases, 3,748 European ancestry controls	8q24.21	NR	rs6983561-C	0.18	4E-13	(Japanese)	1.87	[1.58-2.22]	Illumina [528023]	N
1562	chr8	128109929	128109930	rs7830341	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	8q24.21	PCAT1	rs7830341-G	0.964	7E-6	(EA, men)	0.068	[0.039-0.098] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1562	chr8	128124915	128124916	rs16901979	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	8q24.21	POU5F1B	rs16901979-A	NR	1E-16		1.3888888	[NR]	Illumina [4550396] (imputed)	N
1562	chr8	128124915	128124916	rs16901979	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	8q24.21	NR	rs16901979-A	0.029	5E-9		1.65	[1.39-1.95]	Illumina [1531807] (imputed)	N
1562	chr8	128124915	128124916	rs16901979	19767754	Gudmundsson J	2009-09-20	Nat Genet	Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.	Prostate cancer	Up to 1,968 European ancestry cases, 35,382 European ancestry controls	Up to 11,806 European ancestry cases, 12,387 European ancestry controls	8q24.21	intergenic	rs16901979-A	0.04	3E-14		1.8	[1.55-2.09]	Illumina [310520]	N
1562	chr8	128124915	128124916	rs16901979	17401366	Gudmundsson J	2007-04-01	Nat Genet	Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.	Prostate cancer	1,453 European ancestry cases, 3,064 European ancestry controls	1,210 European ancestry cases, 2,445 European ancestry controls, 373 African American cases, 372 African American controls	8q24.21	intergenic	rs16901979-A	0.03	1E-12	(EA)	1.79	[1.53-2.11]	Illumina [316515]	N
1562	chr8	128125194	128125195	rs10505483	22923026	Cheng I	2012-08-24	Cancer Epidemiol Biomarkers Prev	Evaluating genetic risk for prostate cancer among Japanese and Latinos.	Prostate cancer	1,033 Japanese ancestry cases, 1,042 Japanese ancestry controls, 1,043 Latino cases, 1,057 Latino controls	1,583 Japanese ancestry cases, 3,386 Japanese ancestry  controls, 1,854 European ancestry cases, 3,748 European ancestry controls	8q24.21	NR	rs10505483-T	NR	7E-15	(Japanese and Latin American)	1.73	NR	Illumina [528023]	N
1562	chr8	128131808	128131809	rs116041037	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs116041037-A	1.0E-4	6E-10	(African American)	2.67	[1.96-3.64]	Affymetrix [up to 19977088] (imputed)	N
1562	chr8	128188018	128188019	rs2466024	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	8q24.21	POU5F1B	rs2466024-A	0.41	3E-6		1.21	[NR]	Illumina [450000] (imputed)	N
1563	chr8	128191671	128191672	rs188140481	23104005	Gudmundsson J	2012-10-28	Nat Genet	A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.	Prostate cancer	5,141 European ancestry cases, 54,444 European ancestry controls	Up to 5,470 European ancestry cases, up to 7,583 European ancestry controls	8q24.21	HOXB13	rs188140481-A	0.054	6E-34		2.9	[2.44-3.44]	Illumina [~ 32500000] (imputed)	N
1563	chr8	128211228	128211229	rs2466035	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	8q24.21	MYC	rs2466035-C	0.31	2E-8		1.21	[NR]	Illumina [549934]	N
1564	chr8	128320345	128320346	rs16902094	19767754	Gudmundsson J	2009-09-20	Nat Genet	Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.	Prostate cancer	Up to 1,968 European ancestry cases, 35,382 European ancestry controls	Up to 11,806 European ancestry cases, 12,387 European ancestry controls	8q24.21	intergenic	rs16902094-G	0.15	6E-15		1.21	[1.15-1.26]	Illumina [310520]	N
1564	chr8	128323180	128323181	rs445114	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	8q24.21	intergenic	rs445114-T	NR	5E-7		1.22	[1.12-1.32]	Illumina [571243]	N
1564	chr8	128323180	128323181	rs445114	19767754	Gudmundsson J	2009-09-20	Nat Genet	Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.	Prostate cancer	Up to 1,968 European ancestry cases, 35,382 European ancestry controls	Up to 11,806 European ancestry cases, 12,387 European ancestry controls	8q24.21	intergenic	rs445114-T	0.64	5E-10		1.14	[1.10-1.19]	Illumina [310520]	N
1564	chr8	128340907	128340908	rs16902104	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs16902104-T	0.14	5E-10	(European)	1.21	[1.14-1.28]	Affymetrix [up to 19977088] (imputed)	N
1564	chr8	128340907	128340908	rs16902104	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs16902104-T	0.14	1E-9		1.18	[1.12-1.25]	Affymetrix [up to 19977088] (imputed)	N
1564	chr8	128355617	128355618	rs13281615	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	8q24.21	intergenic	rs13281615-G	0.41	1E-27		1.09	[1.07-1.12]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1564	chr8	128355617	128355618	rs13281615	17529967	Easton DF	2007-05-27	Nature	Genome-wide association study identifies novel breast cancer susceptibility loci.	Breast cancer	390 cases,364 controls	26,646 cases,24,889 controls	8q24.21	intergenic	rs13281615-C	0.40	5E-12		1.08	[1.05-1.11]	Perlegen [205586]	N
1564	chr8	128387851	128387852	rs1562430	21263130	Fletcher O	2011-01-24	J Natl Cancer Inst	Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.	Breast cancer	2,839 European ancestry cases, 3,507 European ancestry controls	9,041 European ancestry cases, 8,980 European ancestry controls	8q24.21	intergenic	rs1562430-A	0.60	3E-11		1.16	[1.11-1.22]	Illumina [~ 296114]	N
1564	chr8	128387851	128387852	rs1562430	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	8q24.21	intergenic	rs1562430-T	0.58	6E-7		1.17	[1.10-1.25]	Illumina [582886]	N
1564	chr8	128388024	128388025	rs2392780	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	8q24.21	intergenic	rs2392780-?	0.6	1E-8		1.15	[1.10-1.20]	Illumina [1265548] (imputed)	N
1564	chr8	128407442	128407443	rs10505477	24740154	Lange EM	2014-04-16	PLoS One	Genome-wide association scan for variants associated with early-onset prostate cancer.	Prostate cancer (early onset)	931 European ancestry cases, 4,120 European ancestry controls	2,571 European ancestry cases, 921 European ancestry controls	8q24.21	MYC	rs10505477-A	0.49	9E-9		1.39	[1.28-1.50]	Illumina [2639562] (imputed)	N
1564	chr8	128407442	128407443	rs10505477	24737748	Whiffin N	2014-04-15	Hum Mol Genet	Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.	Colorectal cancer	5,626 European ancestry cases, 7,817 European ancestry controls	14,037 European ancestry cases, 15,937 European ancestry controls	8q24.21	MYC	rs10505477-T	0.54	8E-13		1.198	[NR]	Illumina [NR] (imputed)	N
1564	chr8	128407442	128407443	rs10505477	17618283	Zanke BW	2007-07-08	Nat Genet	Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.	Colorectal cancer	1,257 cases, 1,336 controls	5,084 European ancestry cases, 5,388 European ancestry controls, 1,139 cases, 1,055 controls	8q24.21	ORF DQ515897	rs10505477-A	0.50	3E-11		1.17	[1.12-1.23]	Affymetrix, Illumina [99632]	N
1564	chr8	128413304	128413305	rs6983267	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	8q24.21	MYC	rs6983267-G	0.5	4E-14		1.1235955	[1.09-1.15]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1564	chr8	128413304	128413305	rs6983267	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs6983267-G	0.51	3E-27		1.25	[1.20-1.30]	Affymetrix [up to 19977088] (imputed)	N
1564	chr8	128413304	128413305	rs6983267	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs6983267-G	0.51	3E-24	(European)	1.25	[1.20-1.31]	Affymetrix [up to 19977088] (imputed)	N
1564	chr8	128413304	128413305	rs6983267	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	8q24.21	NR	rs6983267-G	0.499	4E-10		1.23	[1.15-1.32]	Illumina [1531807] (imputed)	N
1564	chr8	128413304	128413305	rs6983267	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	8q24.21	intergenic	rs6983267-G	0.38	5E-14	(East Asian)	1.14	[1.10-1.18]	Affymetrix, Illumina [2400000] (imputed)	N
1564	chr8	128413304	128413305	rs6983267	24753544	Knipe DW	2014-04-21	Cancer Epidemiol Biomarkers Prev	Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.	Prostate cancer	1,146 European ancestry cases, 1,804 European ancestry controls	1,854 European ancestry cases, 1,437 European ancestry controls	8q24.21	SRRM1P1, POU5F1B	rs6983267-G		4E-15		0.29	[0.22-0.36] unit increase	Illumina [514432] (imputed)	N
1564	chr8	128413304	128413305	rs6983267	24740154	Lange EM	2014-04-16	PLoS One	Genome-wide association scan for variants associated with early-onset prostate cancer.	Prostate cancer (early onset)	931 European ancestry cases, 4,120 European ancestry controls	2,571 European ancestry cases, 921 European ancestry controls	8q24.21	NR	rs6983267-G	NR	1E-8		1.36	[NR]	Illumina [2639562] (imputed)	N
1564	chr8	128413304	128413305	rs6983267	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	8q24.21	MYC	rs6983267-G	0.5	1E-11		1.13	[1.09-1.18]	Affymetrix, Illumina [2708280] (imputed)	N
1564	chr8	128413304	128413305	rs6983267	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	8q24.21	intergenic	rs6983267-G	NR	9E-6		1.2	[1.11-1.32]	Illumina [571243]	N
1564	chr8	128413304	128413305	rs6983267	21242260	Cui R	2011-01-17	Gut	Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population.	Colorectal cancer	1,583 Japanese ancestry cases, 1,898 Japanese ancestry controls	4,584 Japanese ancestry cases, 225 Korean ancestry distal cases, 2,973 East Asian ancestry controls	8q24.21	intergenic	rs6983267-G	0.34	2E-8	(colorectal cancer)	1.18	[1.11-1.25]	Illumina [391749]	N
1564	chr8	128413304	128413305	rs6983267	18372905	Tomlinson IP	2008-03-30	Nat Genet	A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.	Colorectal cancer	922 European ancestry cases, 927 European ancestry controls	17,089 European ancestry cases, 16,862 European ancestry controls, 783 cases, 664 controls	8q24.21	intergenic	rs6983267-?	0.48	7E-11		1.24	[1.17-1.33]	Illumina [547647]	N
1564	chr8	128413304	128413305	rs6983267	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	8q24.21	intergenic	rs6983267-G	0.49	9E-13		1.42	[NR]	Illumina [541129]	N
1564	chr8	128413304	128413305	rs6983267	18264096	Thomas G	2008-02-10	Nat Genet	Multiple loci identified in a genome-wide association study of prostate cancer.	Prostate cancer	1,172 European ancestry cases, 1,157 European ancestry controls	3,941 European ancestry cases, 3,964 European ancestry controls	8q24.21	intergenic	rs6983267-G	0.53	7E-12		1.28	[1.15-1.45]	Illumina [527869]	N
1564	chr8	128413304	128413305	rs6983267	17618284	Tomlinson I	2007-07-08	Nat Genet	A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.	Colorectal cancer	930 European ancestry cases, 960 European ancestry controls	7,334 European ancestry cases, 5,246 European ancestry controls	8q24.21	intergenic	rs6983267-G	0.49	1E-14		1.27	[1.16-1.39]	Illumina [547647]	N
1564	chr8	128413304	128413305	rs6983267	17401363	Yeager M	2007-04-01	Nat Genet	Genome-wide association study of prostate cancer identifies a second risk locus at 8q24.	Prostate cancer	1,172 European ancestry cases, 1,157 European ancestry controls	3,124 European ancestry cases, 3,142 European ancestry controls	8q24.21	intergenic	rs6983267-G	0.50	9E-13		1.26	[1.13-1.41]	Illumina [538548]	N
1564	chr8	128424791	128424792	rs7014346	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	8q24.21	MYC	rs7014346-A	0.34	6E-15		1.19	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
1564	chr8	128424791	128424792	rs7014346	18372901	Tenesa A	2008-03-30	Nat Genet	Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.	Colorectal cancer	981 European ancestry cases, 1,002 European ancestry controls	10,287 European ancestry cases, 10,401 European ancestry controls, 4,400 Japanese ancestry cases, 3,179 Japanese ancestry controls, 1,789 cases, 1,771 controls	8q24.21	POU5FIP1, HsG57825, DQ515897	rs7014346-A	0.18	9E-26		1.19	[1.15-1.23]	Illumina [541628]	N
1565	chr8	128485037	128485038	rs1447295	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	8q24.21	LOC727677, POU5F1B	rs1447295-A	NR	4E-23		1.5384616	[NR]	Illumina [4550396] (imputed)	N
1565	chr8	128485037	128485038	rs1447295	24753544	Knipe DW	2014-04-21	Cancer Epidemiol Biomarkers Prev	Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.	Prostate cancer	1,146 European ancestry cases, 1,804 European ancestry controls	1,854 European ancestry cases, 1,437 European ancestry controls	8q24.21	MYC	rs1447295-A		6E-18		0.51	[0.40-0.63] unit increase	Illumina [514432] (imputed)	N
1565	chr8	128485037	128485038	rs1447295	19767754	Gudmundsson J	2009-09-20	Nat Genet	Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.	Prostate cancer	Up to 1,968 European ancestry cases, 35,382 European ancestry controls	Up to 11,806 European ancestry cases, 12,387 European ancestry controls	8q24.21	intergenic	rs1447295-A	0.11	2E-19		1.58	[1.43-1.74]	Illumina [310520]	N
1565	chr8	128485037	128485038	rs1447295	17401366	Gudmundsson J	2007-04-01	Nat Genet	Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.	Prostate cancer	1,453 European ancestry cases, 3,064 European ancestry controls	1,210 European ancestry cases, 2,445 European ancestry controls, 373 African American cases, 372 African American controls	8q24.21	intergenic	rs1447295-A	0.09	6E-18		1.6	[1.43-1.77]	Illumina [316515]	N
1565	chr8	128485037	128485038	rs1447295	17401363	Yeager M	2007-04-01	Nat Genet	Genome-wide association study of prostate cancer identifies a second risk locus at 8q24.	Prostate cancer	1,172 European ancestry cases, 1,157 European ancestry controls	3,124 European ancestry cases, 3,142 European ancestry controls	8q24.21	intergenic	rs1447295-A	0.11	2E-14		1.43	[1.29-1.59]	Illumina [538548]	N
1565	chr8	128504496	128504497	rs17766217	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	8q24.21	POU5F1B	rs17766217-A	0.01	3E-7	(Citalopram+Buspirone, General side effects)			Affymetrix [421789]	N
1565	chr8	128517572	128517573	rs4242382	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	8q24.21	LOC727677, CASC8	rs4242382-A	0.1	1E-34		1.45	[1.35-1.54]	Illumina [1531807] (imputed)	N
1565	chr8	128517572	128517573	rs4242382	18264096	Thomas G	2008-02-10	Nat Genet	Multiple loci identified in a genome-wide association study of prostate cancer.	Prostate cancer	1,172 European ancestry cases, 1,157 European ancestry controls	3,941 European ancestry cases, 3,964 European ancestry controls	8q24.21	intergenic	rs4242382-A	0.12	3E-19		1.66	[1.47-1.87]	Illumina [527869]	N
1565	chr8	128518553	128518554	rs4242384	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	8q24.21	intergenic	rs4242384-C	NR	3E-16		1.56	[1.40-1.73]	Illumina [571243]	N
1565	chr8	128518553	128518554	rs4242384	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	8q24.21	NR	rs4242384-?	NR	2E-24				Illumina [541129]	N
1565	chr8	128518553	128518554	rs4242384	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	8q24.21	intergenic	rs4242384-C	0.09	3E-16		1.88	[NR]	Illumina [541129]	N
1565	chr8	128531688	128531689	rs11986220	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs11986220-A	0.14	9E-7	(East Asian)	1.83	[1.44-2.33]	Affymetrix [up to 19977088] (imputed)	N
1565	chr8	128531688	128531689	rs11986220	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs11986220-A	0.099	4E-45		1.54	[1.45-1.63]	Affymetrix [up to 19977088] (imputed)	N
1565	chr8	128531688	128531689	rs11986220	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	8q24.21	NR	rs11986220-A	0.099	2E-40	(European)	1.56	[1.46-1.67]	Affymetrix [up to 19977088] (imputed)	N
1565	chr8	128532136	128532137	rs10090154	22923026	Cheng I	2012-08-24	Cancer Epidemiol Biomarkers Prev	Evaluating genetic risk for prostate cancer among Japanese and Latinos.	Prostate cancer	1,033 Japanese ancestry cases, 1,042 Japanese ancestry controls, 1,043 Latino cases, 1,057 Latino controls	1,583 Japanese ancestry cases, 3,386 Japanese ancestry  controls, 1,854 European ancestry cases, 3,748 European ancestry controls	8q24.21	NR	rs10090154-T	0.08	3E-6	(Latin American)	1.68	[1.35-2.09]	Illumina [528023]	N
1565	chr8	128539359	128539360	rs7837688	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	8q24.21	intergenic	rs7837688-?	NR	1E-25				Illumina [510687]	N
1567	chr8	128713872	128713873	rs16902328	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	8q24.21	LOC727677	rs16902328-?		3E-6				Illumina [859311]	N
1567	chr8	128718067	128718068	rs9642880	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	8q24.21	intergenic	rs9642880-T	0.45	4E-38		1.24	[1.20-1.28]	Illumina [462190]	N
1567	chr8	128718067	128718068	rs9642880	20972438	Rothman N	2010-10-24	Nat Genet	A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.	Bladder cancer	3,532 European ancestry cases, 5,120 European ancestry controls	8,381 cases, 48,275 controls	8q24.21	MYC	rs9642880-T	0.45	2E-18		1.21	[1.16-1.27]	Illumina [589299]	N
1567	chr8	128718067	128718068	rs9642880	20348956	Kiemeney LA	2010-03-28	Nat Genet	A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.	Urinary bladder cancer	1,889 European ancestry cases, 39,310 European ancestry controls	2,850 European ancestry cases, 6,239 European ancestry controls	8q24.21	MYC	rs9642880-T	0.44	7E-12		1.21	[1.15-1.28]	Illumina [304703]	N
1567	chr8	128718067	128718068	rs9642880	18794855	Kiemeney LA	2008-09-14	Nat Genet	Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.	Urinary bladder cancer	1,803 European ancestry cases, 34,336 European ancestry controls	2,165 European ancestry cases, 3,800 European ancestry controls	8q24.21	MYC, BC042052	rs9642880-T	0.45	9E-12		1.22	[1.15-1.29]	Illumina [302140]	N
1567	chr8	128719883	128719884	rs10094872	24861552	Rafnar T	2014-05-26	Hum Mol Genet	Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.	Urinary bladder cancer	1,670 European ancestry cases, 90,180 European ancestry controls	5,241 European ancestry cases, 10,456 European ancestry controls	8q24.21	MYC, POU5F1B, PVT1	rs10094872-T	0.411	2E-7		1.26		Illumina [34200000] (imputed)	N
1567	chr8	128815028	128815029	rs4410871	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	8q24.21	MYC, PVT1	rs4410871-T	0.28	5E-10		1.14	[1.09-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1567	chr8	128815028	128815029	rs4410871	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	8q24.21	MYC	rs4410871-G	NR	8E-9		1.11	[1.09-1.12]	Illumina [465434]	N
1567	chr8	128834402	128834403	rs4733789	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	8q24.21	MYC	rs4733789-T	0.46	3E-10		0.025	[0.013-0.037] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1568	chr8	128889370	128889372	rs35252396	24220699	Gudmundsson J	2013-11-13	Nat Commun	A common variant at 8q24.21 is associated with renal cell cancer.	Renal cell carcinoma	1,505 European ancestry cases, 67,725 European ancestry controls	906 European ancestry cases, 3,772 European ancestry controls	8q24.21	MYC, PVT1	rs35252396-?,rs6470588-?,rs6470589-?	0.46	5E-11	(rs35252396-CG, rs6470588-C, rs6470589-G)	1.27	[1.18-1.37]	Illumina [785863] (imputed)	N
1568	chr8	128889370	128889371	rs6470588	24220699	Gudmundsson J	2013-11-13	Nat Commun	A common variant at 8q24.21 is associated with renal cell cancer.	Renal cell carcinoma	1,505 European ancestry cases, 67,725 European ancestry controls	906 European ancestry cases, 3,772 European ancestry controls	8q24.21	MYC, PVT1	rs35252396-?,rs6470588-?,rs6470589-?	0.46	5E-11	(rs35252396-CG, rs6470588-C, rs6470589-G)	1.27	[1.18-1.37]	Illumina [785863] (imputed)	N
1568	chr8	128889371	128889372	rs6470589	24220699	Gudmundsson J	2013-11-13	Nat Commun	A common variant at 8q24.21 is associated with renal cell cancer.	Renal cell carcinoma	1,505 European ancestry cases, 67,725 European ancestry controls	906 European ancestry cases, 3,772 European ancestry controls	8q24.21	MYC, PVT1	rs35252396-?,rs6470588-?,rs6470589-?	0.46	5E-11	(rs35252396-CG, rs6470588-C, rs6470589-G)	1.27	[1.18-1.37]	Illumina [785863] (imputed)	N
1568	chr8	128920196	128920197	rs16902460	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	8q24.21	PVT1	rs16902460-?		3E-6				Affymetrix [545513]	N
1569	chr8	129072160	129072161	rs2648875	17395743	Hanson RL	2007-04-01	Diabetes	Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study.	End-stage renal disease	105 Pima Indian ancestry cases, 102 Pima Indian ancestry controls	NA	8q24.21	PVT1	rs2648875-A	0.53	2E-6		2.97	[1.90-4.65]	Affymetrix [115352]	N
1569	chr8	129075831	129075832	rs2608053	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	8q24.21	PVT1	rs2608053-G	0.52	1E-7		1.2	[1.12-1.28]	Illumina [504374]	N
1569	chr8	129076450	129076451	rs13254990	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	8q24.21	PVT1	rs13254990-T	0.315	1E-8		1.18	[1.11-1.24]	Illumina [up to 21554489]	N
1569	chr8	129076572	129076573	rs13255292	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	8q24.21	MYC, PVT1	rs13255292-T	0.321	1E-12		1.22	[1.15-1.29]	Illumina [8363971] (imputed)	N
1570	chr8	129126852	129126853	rs5029317	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	8q24.21	PVT1	rs5029317-?		8E-6				Illumina [859311]	N
1570	chr8	129192270	129192271	rs2019960	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	8q24.21	intergenic	rs2019960-C	0.22	7E-8		1.3	[1.18-1.43]	Affymetrix, Illumina [1004829] (imputed)	N
1570	chr8	129192270	129192271	rs2019960	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	8q24.21	NR	rs2019960-G	0.23	6E-10		1.37	[NR]	Illumina [296129]	N
1570	chr8	129192270	129192271	rs2019960	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	8q24.21	PVT1	rs2019960-G	NR	5E-9	(Conditioned on rs4410871)	1.12	[1.1-1.13]	Illumina [465434]	N
1570	chr8	129192270	129192271	rs2019960	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	8q24.21	PVT1	rs2019960-G	0.23	1E-13		1.33	[1.23-1.44]	Illumina [504374]	N
1570	chr8	129194640	129194641	rs11780156	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	8q24.21	MYC, MIR1208	rs11780156-T	0.16	3E-11		1.07	[1.04-1.10]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1570	chr8	129220072	129220073	rs11995854	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.21	TMEM75	rs11995854-C	0.277	8E-6	(Diet carbohydrate )	0.04	[NR] g/d increase	Illumina [899892]	N
1571	chr8	129246414	129246415	rs10492294	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	8q24.21	PVT1	rs10492294-?	0.81	4E-6		1.49	[1.27-1.75]	Illumina [2057134] (imputed)	N
1571	chr8	129264588	129264589	rs9792269	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	8q24.21	intergenic	rs9792269-?	0.76	3E-9		1.14	[1.10-1.19]	Illumina [292387]	N
1571	chr8	129269465	129269466	rs4733601	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	8q24.21	MYC, PVT1	rs4733601-A	0.477	4E-11		1.19	[1.12-1.25]	Illumina [8363971] (imputed)	N
1571	chr8	129280948	129280949	rs11775199	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	8q24.21	PVT1	rs11775199-A		7E-6		0.11	[0.06-0.16] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1571	chr8	129316013	129316014	rs975730	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	8q24.21	intergenic	rs975730-?	NR	2E-8				Illumina [472854]	N
1572	chr8	129427517	129427518	rs7815944	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	8q24.21	MIR1208	rs7815944-A	0.673	4E-7		1.16	[1.10-1.23]	Illumina [606164]	N
1573	chr8	129542099	129542100	rs1516971	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	8q24.21	PVT1	rs1516971-T	0.89	1E-10		1.15	[1.10-1.20]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1573	chr8	129542099	129542100	rs1516971	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	8q24.21	PVT1	rs1516971-T	0.87	3E-11	(EA)	1.16	[1.11-1.21]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1573	chr8	129543948	129543949	rs10088218	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	8q24.21	CMYC	rs10088218-A	0.13	1E-20		1.2987013	[1.22-1.37]	Illumina [up to 10962898] (imputed)	N
1573	chr8	129543948	129543949	rs10088218	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	8q24.21	NR	rs10088218-?	0.87	1E-17	(Serious invasive)	1.29	[1.21-1.36]	Illumina [2508744] (imputed)	N
1573	chr8	129543948	129543949	rs10088218	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	8q24.21	MYC	rs10088218-?	0.87	3E-12	(All invasive)	1.18	[1.13-1.24]	Illumina [2508744] (imputed)	N
1573	chr8	129543948	129543949	rs10088218	20852632	Goode EL	2010-09-19	Nat Genet	A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.	Ovarian cancer	1,768 European ancestry cases, 2,354 European ancestry controls	8,709 European ancestry cases, 51,764 European ancestry controls	8q24.21	MYC, THEM75	rs10088218-G	NR	3E-9		1.19	[1.12-1.25]	Illumina [2056878] (imputed)	N
1573	chr8	129567180	129567181	rs6651252	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	8q24.21	NR	rs6651252-A	0.87	9E-10	(EA)	1.095103		Affymetrix, Illumina [~ 9000000] (imputed)	N
1573	chr8	129567180	129567181	rs6651252	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	8q24.21	NR	rs6651252-G	0.87	4E-16	(EA)	1.1607062		Affymetrix, Illumina [~ 9000000] (imputed)	N
1573	chr8	129567180	129567181	rs6651252	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	8q24.21	intergenic	rs6651252-T	0.865	1E-16		1.185	[1.128-1.246]	Affymetrix, Illumina [1230000] (imputed)	N
1573	chr8	129567180	129567181	rs6651252	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	8q24.21	intergenic	rs6651252-T	0.865	4E-18		1.23	[1.17-1.30]	Affymetrix, Illumina [953241] (imputed)	N
1573	chr8	129568077	129568078	rs1561927	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls	8q24.21	LINC00977, MIR1208, PVT1, MYC	rs1561927-T	0.721	1E-7		1.15	[1.09-1.2]	Illumina [608202]	N
1573	chr8	129568077	129568078	rs1561927	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	8q24.21	TMEM75	rs1561927-C		1E-7		1.06	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
1575	chr8	129787975	129787976	rs10956445	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	8q24.21	ADCY8, PVT1	rs10956445-C	NR	5E-7	(AJC)	2.73	[1.67-3.79] unit decrease	Illumina [586062]	N
1576	chr8	129946153	129946154	rs987525	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	8q24.21	NR	rs987525-A	NR	5E-35	(Meta-All, NSCL/P)	1.919	[1.66-2.218]	NR [497084]	N
1576	chr8	129946153	129946154	rs987525	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	8q24.21	NR	rs987525-A	NR	2E-11	(Meta-All, NSCLO)			NR [497084]	N
1576	chr8	129946153	129946154	rs987525	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	8q24.21	NR	rs987525-A	NR	1E-26	(Meta-All, NSCLP)			NR [497084]	N
1576	chr8	129946153	129946154	rs987525	20436469	Beaty TH	2010-05-02	Nat Genet	A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.	Cleft lip	825 European ancestry trios, 1,038 Asian ancestry trios	2,194 Asian ancestry family members, 322 South Asian ancestry family members, 3,830 European ancestry family members, 1,769 South and Central American ancestry family members	8q24.21	intergenic	rs987525-A	0.17	4E-16		1.78	[1.55-2.05]	Illumina [589945]	N
1576	chr8	129946153	129946154	rs987525	19656524	Grant SF	2009-08-03	J Pediatr	A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.	Orofacial clefts	111 European ancestry cases, 5,951 European ancestry controls	NA	8q24.21	intergenic	rs987525-?	0.22	9E-8		2.09	[1.59-2.76]	Illumina [495858]	N
1576	chr8	129946153	129946154	rs987525	19270707	Birnbaum S	2009-03-08	Nat Genet	Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.	Orofacial clefts	224 European ancestry cases, 383 European ancestry controls	246 cases, 954 controls	8q24.21	GSDMC, PVT1	rs987525-A	0.20	3E-24		2.57	[2.02-3.26]	Illumina [521176]	N
1580	chr8	130491164	130491165	rs17262815	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	8q24.21	CCDC26	rs17262815-C	0.154	2E-12		1.36	[NR]	Illumina [8207076] (imputed)	N
1580	chr8	130491751	130491752	rs891835	19578367	Shete S	2009-07-05	Nat Genet	Genome-wide association study identifies five susceptibility loci for glioma.	Glioma	1,878 European ancestry cases, 3,670 European ancestry controls	2,545 European ancestry cases, 2,953 European ancestry controls	8q24.21	CCDC26	rs891835-G	0.79	8E-11		1.24	[1.17-1.30]	Illumina [454576]	N
1581	chr8	130572109	130572110	rs10956483	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	8q24.21	MLZE	rs10956483-C	0.44	2E-10	(monocyte count)	0.071	[0.05-0.09] unit increase	Illumina [2178645] (imputed)	N
1581	chr8	130597584	130597585	rs2163950	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	8q24.21	intergenic	rs2163950-A	0.174	5E-9	(Japanese)	0.021	[0.013-0.029] unit decrease	Illumina [NR] (imputed)	N
1581	chr8	130597584	130597585	rs2163950	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	8q24.21	intergenic	rs2163950-?	NR	2E-9		0.0167	[0.011-0.022] unit decrease	Illumina [NR] (imputed)	N
1581	chr8	130604562	130604563	rs13277237	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	8q24.21	NR	rs13277237-G	0.435	1E-7	(EA)	1.0555866	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1581	chr8	130613613	130613614	rs10098310	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	8q24.21	MLZE, FAM49B	rs10098310-A		3E-20	(Monocytes)	0.0338	[0.027-0.041] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
1581	chr8	130624104	130624105	rs1991866	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	8q24.21	intergenic	rs1991866-C	0.598	7E-8	(Japanese)	0.034	[0.022-0.046] unit decrease	Illumina [NR] (imputed)	N
1581	chr8	130624104	130624105	rs1991866	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	8q24.21	intergenic	rs1991866-C	0.451	5E-11	(EA)	0.032	[0.022-0.042] unit decrease	Illumina [NR] (imputed)	N
1581	chr8	130624104	130624105	rs1991866	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	8q24.21	NR	rs1991866-?	NR	1E-10		0.0156	[0.011-0.020] unit decrease	Illumina [NR] (imputed)	N
1581	chr8	130624104	130624105	rs1991866	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	8q24.21	intergenic	rs1991866-G	0.422	2E-9		1.054	[1.024-1.084]	Affymetrix, Illumina [1230000] (imputed)	N
1581	chr8	130676638	130676639	rs9918807	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	8q24.21	MLZE	rs9918807-T	0.94	5E-6		0.47	[0.27-0.67] unit decrease	Illumina [2675979] (imputed)	N
1582	chr8	130685456	130685457	rs4295627	21531791	Sanson M	2011-04-29	Hum Mol Genet	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	Glioma	4,147 European ancestry cases, 7,435 European ancestry controls	NA	8q24.21	CCDC26	rs4295627-?	NR	5E-21		1.4	[NR]	Illumina [424460]	N
1582	chr8	130685456	130685457	rs4295627	19578367	Shete S	2009-07-05	Nat Genet	Genome-wide association study identifies five susceptibility loci for glioma.	Glioma	1,878 European ancestry cases, 3,670 European ancestry controls	2,545 European ancestry cases, 2,953 European ancestry controls	8q24.21	CCDC26	rs4295627-G	0.83	2E-18		1.36	[1.29-1.43]	Illumina [454576]	N
1582	chr8	130723727	130723728	rs4733724	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	8q24.21	MLZE	rs4733724-A	0.802	1E-41		0.05	[0.042-0.058] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1582	chr8	130725664	130725665	rs6470764	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	8q24.21	GSDMC	rs6470764-T	0.203	1E-6		0.054	[0.032-0.076] unit decrease	Affymetrix, Illumina [2193675] (imputed)	N
1582	chr8	130725664	130725665	rs6470764	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	8q24.21	GSDMC	rs6470764-T	0.2	2E-28		0.05	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1582	chr8	130734460	130734461	rs2062078	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	8q24.21	GSDMC	rs2062078-T	0.73	1E13		0.032	[0.02-0.044] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1583	chr8	130820038	130820039	rs2128382	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	8q24.21	intergenic	rs2128382-?	0.82	8E-6		1.11	[1.06-1.16]	Affymetrix, Illumina [2708280] (imputed)	N
1584	chr8	130958950	130958951	rs16904179	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	8q24.21	FAM49B	rs16904179-?	NR	7E-7	(Whole cohort; AA)			Illumina [up to 871502]	N
1584	chr8	130980471	130980472	rs10092658	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	8q24.21	FAM49B	rs10092658-?	0.07	6E-6	(Aldolase)			Illumina [496032]	N
1584	chr8	131033495	131033496	rs16904191	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	8q24.21	intergenic	rs16904191-G	0.28	2E-7		1.07	[1.04-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1585	chr8	131092412	131092413	rs6984045	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	8q24.21	ASAP1, DDEF1	rs6984045-C	0.02	2E-6		1.59	[NR]	Illumina [302098]	N
1585	chr8	131152664	131152665	rs4733770	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q24.21	NR	rs4733770-G	NR	8E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1586	chr8	131296766	131296767	rs4733781	25774636	Curtis J	2015-03-16	Nat Genet	Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration.	Tuberculosis	5,530 European ancestry cases, 5,607 European ancestry controls	1,085 Russian ancestry cases, 2,865 Russian ancestry controls, 2,277 Sub-Saharan African ancestry cases, 2,360 Sub-Saharan African ancestry controls	8q24.21	ASAP1	rs4733781-A	0.687	4E-12				Affymetrix [7614862] (imputed)	N
1586	chr8	131296766	131296767	rs4733781	25774636	Curtis J	2015-03-16	Nat Genet	Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration.	Tuberculosis	5,530 European ancestry cases, 5,607 European ancestry controls	1,085 Russian ancestry cases, 2,865 Russian ancestry controls, 2,277 Sub-Saharan African ancestry cases, 2,360 Sub-Saharan African ancestry controls	8q24.21	ASAP1	rs4733781-A	0.687	3E-11	(Russian)	1.19	[1.14-1.25]	Affymetrix [7614862] (imputed)	N
1588	chr8	131523282	131523283	rs7000447	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8q24.22	ASAP1, ADCY8	rs7000447-G	0.448	1E-6		2.35	[1.65-3.34]	Illumina [1556551]	N
1589	chr8	131617849	131617850	rs16904316	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	8q24.22	intergenic	rs16904316-C	0.03	2E-6			[NR]	Affymetrix [398699]	N
1590	chr8	131808168	131808169	rs263232	24677629	Wolf EJ	2014-03-27	Depress Anxiety	A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.	Post-traumatic stress disorder	484 European ancestry trauma-exposed individuals	NA	8q24.22	ADCY8	rs263232-?		6E-7		1.43	[0.88-1.98] unit increase	Illumina [1197702]	N
1590	chr8	131812032	131812033	rs263238	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	8q24.22	ADCY8	rs263238-?	NR	2E-6		0.006	[NR] unit increase	Illumina [478011]	N
1594	chr8	132330715	132330716	rs10108033	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q24.22	NR	rs10108033-C	0.990183	3E-6	(IGP22)	2.8474	[1.65-4.05] unit increase	Illumina [~ 2500000] (imputed)	N
1594	chr8	132330715	132330716	rs10108033	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q24.22	NR	rs10108033-C	0.990183	1E-6	(IGP27)	2.9565	[1.76-4.15] unit increase	Illumina [~ 2500000] (imputed)	N
1594	chr8	132353734	132353735	rs4596632	23118974	Candille SI	2012-10-31	PLoS One	Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.	Eye color	175 European ancestry individuals	293 European ancestry individuals	8q24.22	ADCY8/EFR3A	rs4596632-C	0.33	3E-6	(Eye color)	0.167	[0.098-0.236] unit increase	Illumina [313763]	N
1599	chr8	132934537	132934538	rs7004484	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	8q24.22	EFR3A	rs7004484-?		2E-6	(overall survival)	2.79	[1.83-4.25]	Illumina [729737]	N
1599	chr8	132999935	132999936	rs2270875	23374588	Martinelli-Boneschi F	2013-01-29	Neurobiol Aging	Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.	Response to cholinesterase inhibitors in Alzheimer's disease	92 European ancestry cases, 77 European ancestry controls	94 European ancestry cases, 74 European ancestry controls	8q24.22	EFR3A	rs2270875-G	0.16	9E-6	(MMSE)	2.84	[NR] unit decrease	Illumina [522109]	N
1599	chr8	133034836	133034837	rs12542759	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	8q24.22	OC90	rs12542759-T	0.2881	4E-6		0.8026	[NR] unit increase	Illumina [1216074] (imputed)	N
1600	chr8	133103289	133103290	rs2014357	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	8q24.22	NR	rs2014357-?	NR	9E-7	(sweet tooth)			Illumina [535076]	N
1600	chr8	133119960	133119961	rs7822239	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	8q24.22	NR	rs7822239-A	0.73	8E-6		1.1	[1.05-1.14]	Affymetrix, Illumina [7556215] (imputed)	N
1602	chr8	133369093	133369094	rs978152	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	8q24.22	KCNQ3	rs978152-C	0.25	8E-6	(AA)	0.19	[0.11-0.27] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1603	chr8	133436941	133436942	rs2597327	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	8q24.22	KCNQ3	rs2597327-T	0.8	1E-6		0.04	[0.02-0.06] unit decrease	Illumina [1632371] (imputed)	N
1606	chr8	133916798	133916799	rs80018415	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	8q24.22	NR	rs80018415-?	NR	8E-7	(Latino)	0.6193	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1606	chr8	133929916	133929917	rs853308	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	8q24.22	SLA	rs853308-G	0.48	2E-8		1.2	[NR]	Illumina [495821]	N
1607	chr8	134071832	134071833	rs2741200	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	8q24.22	SLA, TG	rs2741200-T	0.671	5E-6	(Harm avoidance)	0.32	unit increase	Affymetrix, Illumina [1252222] (imputed)	N
1608	chr8	134145511	134145512	rs2294025	23612905	Zhao SX	2013-04-29	Hum Mol Genet	Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.	Graves' disease	1,442 Han Chinese ancestry cases, 1,468 Han Chinese ancestry controls	7,891 Han Chinese ancestry cases, 8,351 Han Chinese ancestry controls	8q24.22	SLA, WISP1, TG	rs2294025-T	0.19	8E-9		1.16	[1.10-1.22]	Illumina [8019905] (imputed)	N
1608	chr8	134196848	134196849	rs4527850	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	8q24.22	WISP1	rs4527850-T	0.75	2E-6	(Punjabi Sikhs)	1.23	[1.13 - 1.34]	Illumina [1232008] (imputed)	N
1609	chr8	134270547	134270548	rs2272651	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	8q24.22	NDRG1	rs2272651-?	NR	3E-6	(Whole cohort; EA)			Illumina [up to 871502]	N
1610	chr8	134350105	134350106	rs4736655	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8q24.22	LOC392271, FAM10A6	rs4736655-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1610	chr8	134461850	134461851	rs10106540	23903073	Kim HN	2013-08-01	J Hum Genet	Genome-wide association study of the five-factor model of personality in young Korean women.	Personality dimensions	1,089 Korean ancestry females	2,090 Korean ancestry individuals	8q24.22	ST3GAL1	rs10106540-G		7E-7	(Neuroticism)	0.04	[-0.0188-0.0988] unit increase	Illumina [2053685] (imputed)	N
1610	chr8	134475076	134475077	rs2736871	24039173	McGrath LM	2013-09-13	Am J Med Genet B Neuropsychiatr Genet	Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia.	Functional impairment in major depressive disorder, bipolar disorder and schizophrenia	2,246 European ancestry individuals	NA	8q24.22	ST3GAL1	rs2736871-?	NR	3E-6	(MCS)			Affymetrix [1633452] (imputed)	N
1612	chr8	134615749	134615750	rs2945733	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	8q24.22	ST3GAL1	rs2945733-A	0.13	4E-6		0.51	[0.098-0.922] mmHg increase	Illumina [466573]	N
1612	chr8	134616135	134616136	rs2978048	24503447	Nelson D	2014-02-06	Antivir Ther	Genome-wide association study to characterize serum bilirubin elevations in patients with HCV treated with GS-9256, an HCV NS3 serine protease inhibitor.	Response to protease inhibitor treatment in hepatitis c (peak serum total bilirubin levels)	176 European ancestry individuals	NA	8q24.22	ST3GAL1	rs2978048-?	NR	1E-6		0.25	[NR] unit increase	Illumina [4466593]	N
1612	chr8	134640087	134640088	rs2945731	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8q24.22	NR	rs2945731-?	NR	2E-6	(AA)	1.2332	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1612	chr8	134640087	134640088	rs2945731	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	8q24.22	NR	rs2945731-?	NR	2E-8	(AA)	1.3036	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1612	chr8	134668676	134668677	rs2860223	23382809	Xu C	2013-01-29	PLoS One	BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies.	Schizophrenia (negative symptoms)	1,774 European ancestry cases, 2,726 European ancestry controls		8q24.22	ST3Gal1	rs2860223-C	0.35	2E-6		1.26	[NR]	Affymetrix [729454]	N
1613	chr8	134778341	134778342	rs74566133	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	8q24.22	intergenic	rs74566133-C	0.969	7E-7		0.249	[0.15-0.35] unit decrease	Illumina [6150213] (imputed)	N
1614	chr8	134967407	134967408	rs117405208	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	8q24.22	intergenic	rs117405208-C	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
1619	chr8	135542083	135542084	rs1550582	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	8q24.22	intergenic	rs1550582-A	0.262	7E-6		0.022	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1619	chr8	135566566	135566567	rs7827545	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	8q24.22	ZFAT	rs7827545-?,rs1372662-?	(CG)	2E-44				Affymetrix [405022]	N
1619	chr8	135567045	135567046	rs1372662	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	8q24.22	ZFAT	rs7827545-?,rs1372662-?	(CG)	2E-44				Affymetrix [405022]	N
1619	chr8	135593724	135593725	rs6577655	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	8q24.22	ZFAT1	rs6577655-T	0.33	5E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1619	chr8	135636963	135636964	rs11166629	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking quantity	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	8q24.22	NR	rs11166629-?		3E-6				Illumina [1211988] (imputed)	N
1619	chr8	135637336	135637337	rs12680655	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	8q24.22	ZFAT	rs12680655-C	0.52	2E-7		0.023	[0.011-0.035] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1619	chr8	135637336	135637337	rs12680655	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	8q24.22	ZFAT	rs12680655-C	0.6	2E-14		0.028	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1619	chr8	135638631	135638632	rs733254	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	8q24.22	ZFAT1	rs733254-A	0.27	2E-6		0.041	[0.023-0.059] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1619	chr8	135650482	135650483	rs1036821	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	8q24.22	ZFAT	rs1036821-A	0.3	1E-30		0.037	[0.031-0.043] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1621	chr8	135850897	135850898	rs7003550	26025128	Park HW	2015-05-27	J Allergy Clin Immunol	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.	Bone mineral accretion in asthma (oral corticosteroid dose interaction)	489 European ancestry children	NA	8q24.22	intergenic	rs7003550-?		1E-8				Illumina [NR]	N
1621	chr8	135869975	135869976	rs12541063	24001895	Kelly TN	2013-09-03	Hypertension	Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.	Blood pressure	22,275 East Asian ancestry individuals, 4,325 South East Asian ancestry individuals	28,783 East Asian ancestry individuals	8q24.22	MIR30D	rs12541063-A	0.39	3E-6	(PP)	0.81	[0.48-1.14] mm of mercury decrease	Affymetrix, Illumina [~ 2400000] (imputed)	N
1621	chr8	135879158	135879159	rs4909801	24277619	Quillen EE	2013-11-26	Am J Med Genet B Neuropsychiatr Genet	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Response to alcohol consumption (flushing response)	108 Han Chinese ancestry cases, 190 Han Chinese ancestry controls	NA	8q24.22	intergenic	rs4909801-?		3E-6		0.534	unit increase	Illumina [247725]	N
1628	chr8	136713136	136713137	rs4243849	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	8q24.23	intergenic	rs4243849-G	0.52	2E-6	(Steatosis)	0.14	[NR] unit increase	Illumina [324623]	N
1629	chr8	136871738	136871739	rs12680546	17362836	Schymick JC	2007-02-20	Lancet Neurol	Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.	Amyotrophic lateral sclerosis	276 European ancestry cases, 271 European ancestry controls	NA	8q24.23	intergenic	rs12680546-?	NR	3E-6		1.67	[1.25-2.00]	Illumina [549062]	N
1630	chr8	136989203	136989204	rs16905439	22754043	Byrne EM	2012-07-01	Sleep	A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.	Insomnia (caffeine-induced)	2,402 European ancestry individuals from 1,470 families	NA	8q24.23	AC105008.1	rs16905439-?	0.99	9E-6		3.33	[1.96-5.88]	Illumina [2380486] (imputed)	N
1631	chr8	137156449	137156450	rs10505648	25574032	Lee H	2015-01-08	Hum Reprod	Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome.	Polycystic ovary syndrome	976 Korean ancestry cases, 946 Korean ancestry controls	249 Korean ancestry cases, 778 Korean ancestry controls	8q24.23	KHDRBS3	rs10505648-A	0.906	5E-8		1.92	[NR]	Illumina [636870]	N
1636	chr8	137768891	137768892	rs16906293	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	8q24.23	intergenic	rs16906293-?	0.014	6E-6		0.087	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
1636	chr8	137850010	137850011	rs16906415	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q24.23	NR	rs16906415-G	0.107822580400891	6E-6	(IGP32)	0.2296	[0.13-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
1636	chr8	137850010	137850011	rs16906415	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q24.23	NR	rs16906415-G	0.107695718234507	3E-6	(IGP35)	0.235	[0.14-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
1639	chr8	138194868	138194869	rs2077233	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	8q24.23	intergenic	rs2077233-A	0.176	7E-6	(3MSE)	2.3061	[1.31-3.30] unit decrease	Affymetrix [> 371951] (imputed)	N
1644	chr8	138905295	138905296	rs9657451	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	8q24.23	FAM135B	rs9657451-?	NR	2E-6	(Delayed Story Recall)			Illumina [up to 563855]	N
1644	chr8	138909718	138909719	rs62531686	23555189	Chen Z	2013-04-01	Neoplasia	Genome-wide association study identifies genetic determinants of urine PCA3 levels in men.	PCA3 expression level	1,371 European ancestry individuals	NA	8q24.23	FLJ45872	rs62531686-C	0.3	8E-7		0.83	[0.76-0.90] unit increase	Illumina [3076666] (imputed)	N
1644	chr8	138918944	138918945	rs2705293	18762592	van den Oord EJ	2008-09-01	Arch Gen Psychiatry	Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.	Neuroticism	1,227 European ancestry individuals	1,880 European ancestry individuals	8q24.23	AK127771	rs2705293-?	NR	6E-6				Affymetrix [420287]	N
1646	chr8	139077727	139077728	rs984440	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.23	FLJ45872	rs984440-A	0.127	3E-6	(RANTES )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1647	chr8	139255917	139255918	rs4909764	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	8q24.23	FAM135B	rs4909764-?	NR	2E-6	(Monocyte chemoattractant protein-1)			Affymetrix [2543887] (imputed)	N
1647	chr8	139301377	139301378	rs10875423	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	8q24.23	FAM135B	rs10875423-?	0.18	9E-6	(Age 20-81 years)	1.43	[1.22-1.67]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1649	chr8	139504269	139504270	rs11166827	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	8q24.23	FAM135B	rs11166827-?	NR	5E-6	(Digit Span Backward)			Illumina [up to 563855]	N
1650	chr8	139608717	139608718	rs61496269	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	8q24.23	NR	rs61496269-?	NR	2E-6		0.397	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1652	chr8	139884508	139884509	rs6988229	23508266	Duan QL	2013-03-19	Pharmacogenomics J	A genome-wide association study of bronchodilator response in asthmatics.	Asthma (bronchodilator response)	Up to 403 European ancestry asthmatic children and their parents	764 European ancestry cases, 592 Costa Rican ancestry cases	8q24.23	COL22A1	rs6988229-T	0.20	9E-6	(Recessive Model)			Illumina [534290]	N
1652	chr8	139979824	139979825	rs4736192	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	8q24.3	intergenic	rs4736192-A		9E-6	(EA, factor score analysis)	0.073	[NR] unit increase	Affymetrix [up to 730090]	N
1655	chr8	140335813	140335814	rs7841806	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	8q24.3	COL22A1, KCNK9	rs7841806-C	0.4	3E-7		0.073	[0.046-0.1] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1655	chr8	140335813	140335814	rs7841806	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	8q24.3	COL22A1, KCNK9	rs7841806-C	0.4	3E-6	(men)	0.086	[0.051-0.121] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1656	chr8	140496241	140496242	rs4645543	25411281	Dashti HS	2014-10-08	Am J Clin Nutr	Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations.	Circulating phylloquinone levels	2,138 European ancestry individuals	NA	8q24.3	KCNK9	rs4645543-T	0.04	2E-7	(Model 1)	0.42	[0.26-0.58] unit decrease	Affymetrix, Illumina [2543887] (imputed)	N
1657	chr8	140519516	140519517	rs2468677	21700879	Qi L	2011-06-23	Diabetes	Novel locus FER is associated with serum HMW adiponectin levels.	Adiponectin levels	1,591 European ancestry female individuals	626 European ancestry individuals from 235 families	8q24.3	KCNK9	rs2468677-G	0.52	8E-7				Affymetrix [2543887] (imputed)	N
1658	chr8	140651778	140651779	rs1469039	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	8q24.3	KCNK9	rs1469039-A	0.19	4E-12		0.05	[0.036-0.064] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1660	chr8	140995242	140995243	rs1870805	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.3	TRAPPC9	rs1870805-A	0.275	3E-6	(Urinary nitrogen )	0.03	[NR] g/d increase	Illumina [899892]	N
1661	chr8	141150168	141150169	rs6992848	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	8q24.3	TRAPPC9	rs6992848-?	NR	7E-6	(SF10)			Affymetrix [5476100] (imputed)	N
1663	chr8	141404328	141404329	rs7823724	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	8q24.3	TRAPPC9	rs7823724-?	NR	3E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1665	chr8	141574193	141574194	rs2944755	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	8q24.3	EIF2C2	rs2944755-A	0.06	8E-6	(AA-glucose response)	9.45	[5.31-13.59] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1669	chr8	142104943	142104944	rs4961252	21502966	Weber F	2011-04-19	Pharmacogenomics J	Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-&#x003b2; therapy in multiple sclerosis patients.	Response to interferon beta therapy	178 European ancestry antibody-positive individuals, 184 European ancestry antibody-negative individuals	350 European ancestry antibody-positive individuals, 468 European ancestry antibody-negative individuals	8q24.3	DENND3, PTK2	rs4961252-G	0.40	3E-8		0.23	[NR] unit increase	Illumina [~ 317000]	N
1669	chr8	142161063	142161064	rs3816063	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.3	DENND3	rs3816063-A	0.242	2E-6	(Diet protein )	0.03	[NR] %energy increase	Illumina [899892]	N
1670	chr8	142300314	142300315	rs7827290	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	8q24.3	LOC731779, GPR20	rs7827290-G	NR	9E-6		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
1671	chr8	142359549	142359550	rs7386474	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	8q24.3	NR	rs7386474-?	NR	3E-6		1.2301	[NR]	Affymetrix [722112]	N
1671	chr8	142466820	142466821	rs11777747	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	8q24.3	FLJ43860	rs11777747-T	0.03	8E-6	(AA)	0.68	[0.39-0.97] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1672	chr8	142540924	142540925	rs7837045	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	8q24.3	FLJ43860	rs7837045-A	0.22	5E-6		0.092	[0.053-0.131] cup size decrease	Illumina [7422970] (imputed)	N
1672	chr8	142556804	142556805	rs1566080	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.3	FLJ43860	rs1566080-A	0.22	6E-6	(Total antioxidants )	0.03	[NR] mM increase	Illumina [899892]	N
1673	chr8	142632314	142632315	rs13263959	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	8q24.3	NR	rs13263959-?	NR	8E-7	(hair color)			Illumina [535076]	N
1673	chr8	142736530	142736531	rs4072286	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.3	intergenic	rs4072286-C	0.461	4E-7	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1676	chr8	143020730	143020731	rs7845056	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	8q24.3	NR	rs7845056-C	0.409235014686248	9E-6	(IGP48)	0.1776	[0.099-0.256] unit increase	Illumina [~ 2500000] (imputed)	N
1676	chr8	143121670	143121671	rs4917300	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	8q24.3	intergenic	rs4917300-T	0.46	2E-6	(Joint)	1.27	[1.14-1.42]	Illumina [254145]	N
1678	chr8	143312932	143312933	rs4129585	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q24.3	NR	rs4129585-A	NR	8E-14		1.08	[NR]	Illumina [7158791] (imputed)	N
1678	chr8	143312932	143312933	rs4129585	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	8q24.3	TSNARE1	rs4129585-A	0.424	2E-15		1.087	[1.065-1.109]	Affymetrix, Illumina [9005918] (imputed)	N
1678	chr8	143312932	143312933	rs4129585	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	8q24.3	TSNARE1	rs4129585-A	0.439	2E-10		1.091	[1.06-1.12]	Affymetrix, Illumina [9871789]	N
1681	chr8	143691837	143691838	rs7465272	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	8q24.3	NR	rs7465272-?	NR	9E-6		1.2559	[NR]	Affymetrix [722112]	N
1681	chr8	143730455	143730456	rs11785400	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q24.3	NR	rs11785400-T	NR	8E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1681	chr8	143753695	143753696	rs72690918	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	8q24.3	NR	rs72690918-?	NR	1E-7	(AA)	1.5694	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1681	chr8	143761930	143761931	rs2294008	26098866	Helgason H	2015-06-22	Nat Genet	Loss-of-function variants in ATM confer risk of gastric cancer.	Gastric cancer	2,500 European ancestry cases, 205,652 European ancestry controls (includes non-array genotyped, whole genome imputed individuals)	NA	8q24.3	PSCA	rs2294008-T	0.471	2E-7		1.21	[NR]	Illumina [~ 25000000] (imputed)	N
1681	chr8	143761930	143761931	rs2294008	26098866	Helgason H	2015-06-22	Nat Genet	Loss-of-function variants in ATM confer risk of gastric cancer.	Gastric adenocarcinoma (histologically verified)	2,043 European ancestry cases, 202,533 European ancestry controls	NA	8q24.3	PSCA	rs2294008-T	0.471	1E-6		1.21	[NR]	Illumina [~ 25000000] (imputed)	N
1681	chr8	143761930	143761931	rs2294008	22387998	Tanikawa C	2012-03-04	Nat Genet	A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population.	Duodenal ulcer	1,043 Japanese ancestry cases, 21,694 Japanese ancestry controls	5,992 Japanese ancestry cases, 3,629 Japanese ancestry controls	8q24.3	PSCA	rs2294008-C	0.37	2E-33	(Additive)	1.41	[NR]	Illumina [480327]	N
1681	chr8	143761930	143761931	rs2294008	20972438	Rothman N	2010-10-24	Nat Genet	A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.	Bladder cancer	3,532 European ancestry cases, 5,120 European ancestry controls	8,381 cases, 48,275 controls	8q24.3	PSCA	rs2294008-T	0.46	4E-11		1.13	[1.09-1.17]	Illumina [589299]	N
1681	chr8	143761930	143761931	rs2294008	19648920	Wu X	2009-08-02	Nat Genet	Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.	Bladder cancer	969 European ancestry cases, 957 European ancestry controls	5,698 European ancestry cases, 38,633 European ancestry controls	8q24.3	PSCA	rs2294008-T	0.46	2E-10		1.15	[1.10-1.20]	Illumina [556429]	N
1688	chr8	144657599	144657600	rs2290416	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	8q24.3	NAPRT1	rs2290416-?	NR	9E-6	(count)			Perlegen [429981]	N
1688	chr8	144693838	144693839	rs2045084	23585552	Kirin M	2013-04-11	Hum Mol Genet	Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.	Rhegmatogenous retinal detachment	867 European ancestry cases, 1,953 European ancestry controls	1,966 European ancestry cases, 5,918 European ancestry controls	8q24.3	TSTA3, PYCRL	rs2045084-G	0.425	3E-6		1.16	[1.09-1.24]	Illumina [299737]	N
1689	chr8	144802455	144802456	rs35925379	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	8q24.3	MAPK15	rs35925379-A	0.052	2E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1690	chr8	144839146	144839147	rs11784536	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	8q24.3	NR	rs11784536-A	NR	5E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1690	chr8	144872410	144872411	rs4875053	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	8q24.3	SCRIB, PARP10	rs4875053-G	0.44	1E-8		0.03	[0.018-0.042] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1691	chr8	145005560	145005561	rs6995402	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	8q24.3	PLEC1	rs6995402-C	NR	5E-10		2.304	[1.58-3.03] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1691	chr8	145021166	145021167	rs7464572	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	8q24.3	PLEC1	rs7464572-C	0.6	1E-9	(EA)	0.007	[0.005-0.009] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
1691	chr8	145037572	145037573	rs11783655	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	8q24.3	PLEC1	rs11783655-A	0.395	1E-9		0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1691	chr8	145043542	145043543	rs11136341	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	8q24.3	PLEC1	rs11136341-G	0.4	7E-12		0.045	[NR] unit increase	NR [NR] (imputed)	N
1691	chr8	145043542	145043543	rs11136341	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	8q24.3	PLEC1	rs11136341-G	0.40	6E-9		0.038	[NR] unit increase	NR [NR] (imputed)	N
1691	chr8	145043542	145043543	rs11136341	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	8q24.3	PLEC1	rs11136341-G	0.4	4E-13		1.4	[0.99-1.81] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1691	chr8	145043542	145043543	rs11136341	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	8q24.3	PLEC1	rs11136341-G	0.4	9E-10		1.34	[0.87-1.81] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1691	chr8	145063411	145063412	rs11784833	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	8q24.3	GRINA, PLEC1	rs11784833-C	0.36	2E-10		0.042	[0.028-0.056] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1692	chr8	145139521	145139522	rs6558295	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	8q24.3	OPLAH	rs6558295-G	0.083	2E-59	(5-oxoproline)	0.121	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1692	chr8	145145686	145145687	rs7822232	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	8q24.3	OPLAH	rs7822232-A	0.92	5E-15	(X-14625)	0.03	[0.022-0.038] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1692	chr8	145155407	145155408	rs12550729	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	8q24.3	OPLAH	rs12550729-T	0.92	6E-110	(5-oxoproline)	0.064	[0.058-0.07] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1696	chr8	145744428	145744429	rs2721173	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	8q24.3	GPT, PPP1R16A, VPS28, MFSD3, RECQL4, LRRC14, ARHGAP39, FOXH1, KIFC2, CYHR1, CPSF1, SCRT1, LRRC24	rs2721173-T	0.473	9E-6		0.02	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1697	chr8	145778127	145778128	rs2620636	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	8q24.3	NR	rs2620636-?		4E-6	(females)			Illumina [1211988] (imputed)	N
1700	chr8	146171163	146171164	rs147852159	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	8q24.3	ZNF16	rs147852159-G	0.03	3E-7	(AA)			Affymetrix, Illumina [14227402] (imputed)	N
587	chr9	289060	289061	rs6476030	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.3	DOCK8	rs6476030-G	0.086	3E-6	(Hip circumference change )	0.02	[NR] cm/y increase	Illumina [899892]	N
587	chr9	331489	331490	rs10813766	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	9p24.3	DOCK8	rs10813766-T	NR	4E-12		0.007	[0.005-0.009] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
589	chr9	565916	565917	rs7027930	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	9p24.3	intergenic	rs7027930-?	NR	9E-6	(FEV1/FVC decline in asthmatics)	0.1993	[0.11-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
589	chr9	622522	622523	rs10815355	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	9p24.3	KANK1	rs10815355-?	NR	1E-9		0.045	[0.031-0.059] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
590	chr9	678836	678837	rs12352279	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	9p24.3	intergenic	rs12352279-C	0.07	3E-6		1.25	[1.14-1.37]	Affymetrix, Illumina [~ 2300000] (imputed)	N
591	chr9	789498	789499	rs12000567	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	9p24.3	NR	rs12000567-A	0.0165	8E-6		0.63	[0.35-0.91] unit increase	Affymetrix, Illumina [2403520] (imputed)	N
591	chr9	841151	841152	rs912062	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.3	DMRT1	rs912062-C	0.161	3E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
591	chr9	845515	845516	rs7040024	21551455	Kanetsky PA	2011-05-06	Hum Mol Genet	A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.	Testicular cancer	349 European ancestry cases, 919 European ancestry controls	439 European ancestry cases, 960 European ancestry controls	9p24.3	DMRT1	rs7040024-A	NR	1E-11		1.7	[1.46-1.99]	Affymetrix [609482]	N
591	chr9	863634	863635	rs755383	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	9p24.3	DMRT1	rs755383-T	0.63	2E-26		1.38	[1.25-1.52]	Illumina [307291]	N
591	chr9	863634	863635	rs755383	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	9p24.3	DMRT1	rs755383-C	NR	4E-7		1.5152	[1.3-1.79]	Illumina [NR]	N
591	chr9	863634	863635	rs755383	21551455	Kanetsky PA	2011-05-06	Hum Mol Genet	A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.	Testicular cancer	349 European ancestry cases, 919 European ancestry controls	439 European ancestry cases, 960 European ancestry controls	9p24.3	DMRT1	rs755383-T	NR	9E-10		1.5	[1.32-1.71]	Affymetrix [609482]	N
591	chr9	863634	863635	rs755383	20543847	Turnbull C	2010-06-13	Nat Genet	Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.	Testicular germ cell cancer	979 European ancestry cases, 4,947 European ancestry controls	664 European ancestry cases, 3,456 European ancestry controls	9p24.3	DMRT1	rs755383-T	0.62	1E-23		1.37	[1.21-1.55]	Illumina [298782]	N
592	chr9	955793	955794	rs364477	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	9p24.3	DMRT3, DMRT1	rs364477-C	0.2154931	4E-6	(remission - SSRI treated - 12 weeks)	1.6925	[1.47-1.92]	Affymetrix, Illumina [1200000] (imputed)	N
592	chr9	975111	975112	rs279910	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	9p24.3	NR	rs279910-?	NR	3E-6		1.571	[0.94-2.2] unit decrease	Illumina [498648]	N
592	chr9	998868	998869	rs279875	25628645	Tong Y	2015-01-13	Front Genet	Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs).	Response to Homoharringtonine (cytotoxicity)	93 African-American ancestry lymphoblastoid cell lines, 91 European ancestry lymphoblastoid cell lines, 94 Han Chinese ancestry lymphoblastoid cell lines	NA	9p24.3	DMRT3	rs279875-?		7E-7				Affymetrix, Illumina [6750581] (imputed)	N
593	chr9	1056958	1056959	rs17641078	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	9p24.3	DMRT2	rs17641078-?	NR	5E-6	(binary)			Perlegen [429981]	N
594	chr9	1202370	1202371	rs10809650	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	9p24.3	DMRT2, RP11-341G2.1	rs10809650-?	0.76	6E-9		1.25	[1.14-1.35]	Illumina [234939]	N
596	chr9	1456796	1456797	rs1412259	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	9p24.3	intergenic	rs1412259-?	NR	4E-6				Affymetrix, Illumina [~ 1300000]	N
597	chr9	1595159	1595160	rs10962181	25335168	Hashimoto R	2014-10-21	Transl Psychiatry	Common variants at 1p36 are associated with superior frontal gyrus volume.	Superior frontal gyrus grey matter volume	158 Japanese ancestry schizophrenia cases, 378 Japanese ancestry healthy controls	NA	9p24.3	SMARCA2	rs10962181-G	0.09	3E-6	(Right superior frontal gyrus)	1328.0	[NR] unit increase	Affymetrix [517946]	N
598	chr9	1721477	1721478	rs1478110	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	9p24.3	intergenic	rs1478110-T	0.48	4E-7		0.023	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
601	chr9	2194226	2194227	rs4741652	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	9p24.3	SMARCA2	rs4741652-T	NR	7E-6	(Modelling analysis)	1.07	[1.04-1.12]	NR [1252901] (imputed)	N
601	chr9	2203937	2203938	rs6475600	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)	64 Japanese ancestry cases, 27 Japanese ancestry controls	NA	9p24.2	SMARCA2	rs6475600-C	0.63	2E-6	(Allelic)	7.78	3.25-18.6]	Illumina [555600]	N
602	chr9	2256091	2256092	rs16938145	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	9p24.2	SMARCA2	rs16938145-?		1E-6				Illumina [859311]	N
604	chr9	2548555	2548556	rs10812227	22780124	Lind PA	2012-07-11	Addict Biol	Genome-wide association study of a quantitative disordered gambling trait.	Gambling	1,312 European ancestry twins from 894 families	NA	9p24.2	VLDLR, FLJ35024	rs10812227-C	.868	5E-6		0.221	[0.13-0.32] unit increase	Illumina [2373249] (imputed)	N
604	chr9	2551653	2551654	rs12237653	22780124	Lind PA	2012-07-11	Addict Biol	Genome-wide association study of a quantitative disordered gambling trait.	Gambling	1,312 European ancestry twins from 894 families	NA	9p24.2	VLDLR, FLJ35024	rs12237653-T	0.868	3E-6		0.225	[0.13-0.32] unit increase	Illumina [2373249] (imputed)	N
605	chr9	2640758	2640759	rs3780181	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	9p24.2	VLDLR	rs3780181-G	0.08	2E-9		0.044	[NR] unit decrease	NR [NR] (imputed)	N
605	chr9	2640758	2640759	rs3780181	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	9p24.2	VLDLR	rs3780181-G	0.08	7E-10		0.044	[NR] unit decrease	NR [NR] (imputed)	N
605	chr9	2691185	2691186	rs10738760	21757650	Debette S	2011-07-14	Circ Res	Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.	Vascular endothelial growth factor levels	3,527 European ancestry individuals	1,727 European ancestry individuals	9p24.2	KCNV2, VLDLR	rs10738760-A	0.49	1E-39				Affymetrix [2540233] (imputed)	N
605	chr9	2696554	2696555	rs930811	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.2	KIAA0020, KCNV2	rs930811-G	0.406	1E-6	(Birth weight )	0.04	[NR] kg increase	Illumina [899892]	N
605	chr9	2742770	2742771	rs2034764	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	9p24.2	KCNV2, VLDLR	rs2034764-?	NR	4E-6		0.879	unit increase	Illumina [2543888] (imputed)	N
606	chr9	2777383	2777384	rs10812641	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	9p24.2	KIAA0020, KCNV2	rs10812641-?	NR	3E-6		0.091	[0.054-0.128] unit increase	Illumina [> 2500000] (imputed)	N
606	chr9	2838469	2838470	rs10968457	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.2	KIAA0020	rs10968457-A	0.047	9E-6	(DBP )	0.03	[NR] mmHg increase	Illumina [899892]	N
607	chr9	2978376	2978377	rs7045640	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	9p24.2	KIAA0020, RFX3	rs7045640-A	0.76	8E-6		1.75	[0.99-2.51] mmHg decrease	Illumina [1019297] (imputed)	N
609	chr9	3195774	3195775	rs117260909	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	9p24.2	intergenic	rs117260909-C	0.005	7E-6		7.69	[2.7-21.9]	Illumina [1556551]	N
612	chr9	3589116	3589117	rs12236871	25967671	Li C	2015-05-13	Nat Commun	Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.	Gout	1,255 Han Chinese ancestry male cases, 1,848 Han Chinese ancestry male controls	3,020 Han Chinese ancestry male cases, 4,424 Han Chinese ancestry male controls	9p24.2	RFX3	rs12236871-?	0.589	1E-10		1.23	[NR]	Affymetrix [603505]	N
614	chr9	3844060	3844061	rs717423	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	9p24.2	GLIS3	rs717423-?		4E-6	(Hispanic)	14.1	[NR]	Illumina [936149]	N
614	chr9	3911352	3911353	rs13301469	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p24.2	NR	rs13301469-C	NR	8E-7		1.08	[NR]	Illumina [7158791] (imputed)	N
614	chr9	3929423	3929424	rs514716	23562540	Cruchaga C	2013-04-04	Neuron	GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.	Alzheimer's disease biomarkers	591 European ancestry cases, 687 European ancestry controls		9p24.2	GLIS3	rs514716-G	NR	3E-9	(ptau)	0.072	[NR] unit decrease	Illumina [5815690] (imputed)	N
614	chr9	3929423	3929424	rs514716	23562540	Cruchaga C	2013-04-04	Neuron	GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.	Alzheimer's disease biomarkers	591 European ancestry cases, 687 European ancestry controls		9p24.2	GLIS3	rs514716-G	NR	1E-8	(tau)	0.071	[NR] unit decrease	Illumina [5815690] (imputed)	N
615	chr9	3943124	3943125	rs501631	25599974	Zhang H	2015-01-19	Genet Epidemiol	A Genome-Wide Association Study of Early Spontaneous Preterm Delivery.	Spontaneous preterm birth (preterm delivery)	935 pre-term delivery mothers, 946 term delivery mothers	66 European ancestry pre-term delivery mothers, 110 African American pre-term delivery mothers, 110 Hispanic pre-term delivery mothers, 7 pre-term delivery mothers,  37 European ancestry term delivery mothers, 84 African American term delivery mothers, 74 Hispanic term delivery mothers, 5 term delivery mothers	9p24.2	GLIS3	rs501631-T	0.48	7E-6		1.33	[NR]	Affymetrix [779326]	N
615	chr9	4015369	4015370	rs564816	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	9p24.2	GLIS3	rs564816-C	0.04	3E-7			[NR]	Affymetrix [398699]	N
617	chr9	4267208	4267209	rs1571583	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	9p24.2	GLIS3	rs1571583-A	0.249	3E-8	(TSH)	0.057	[0.037-0.077] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
617	chr9	4267208	4267209	rs1571583	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	9p24.2	GLIS3	rs1571583-A	0.249	1E-6	(TSH - Males)	0.074	[0.045-0.103] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
617	chr9	4287465	4287466	rs7041847	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	9p24.2	GLIS3	rs7041847-A	0.5	5E-6		1.05	[1.01-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
617	chr9	4287465	4287466	rs7041847	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	9p24.2	GLIS3	rs7041847-A	0.41	2E-14		1.1	[1.07-1.13]	Affymetrix, Illumina [2626356] (imputed)	N
617	chr9	4289049	4289050	rs7034200	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	9p24.2	GLIS3	rs7034200-?	NR	7E-7				Affymetrix, Illumina [~ 2400000] (imputed)	N
617	chr9	4289049	4289050	rs7034200	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	9p24.2	GLIS3	rs7034200-A	0.49	1E-13	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
617	chr9	4289049	4289050	rs7034200	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	9p24.2	GLIS3	rs7034200-A	0.49	1E-12	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
617	chr9	4290084	4290085	rs4237150	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	9p24.2	GLIS3	rs4237150-?	NR	4E-9		0.053	[0.035-0.071] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
617	chr9	4291746	4291747	rs7020673	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	9p24.2	GLIS3	rs7020673-?	0.50	5E-12		1.14	[1.08-1.20]	Affymetrix, Illumina [841622] (imputed)	N
617	chr9	4292082	4292083	rs10758593	18840781	Grant SF	2008-10-07	Diabetes	Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.	Type 1 diabetes	563 European ancestry cases, 1,146 European ancestry controls, 483 European ancestry trios	3,303 European ancestry cases, 4,673 European ancestry controls	9p24.2	GLIS3	rs10758593-A	NR	3E-6		1.13	[1.07-1.19]	Illumina [up to 1000000]	N
617	chr9	4293149	4293150	rs10814916	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	9p24.2	GLIS3	rs10814916-C	0.439	6E-12		1.11	[1.08-1.15]	Illumina [2234194] (imputed)	N
618	chr9	4419153	4419154	rs10814969	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking quantity	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	9p24.2	NR	rs10814969-?		3E-6				Illumina [1211988] (imputed)	N
618	chr9	4426630	4426631	rs10974531	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	9p24.2	SLC1A1	rs10974531-A	NR	5E-6		1.24	[1.13-1.35]	Affymetrix [666141]	N
619	chr9	4555304	4555305	rs7856675	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	9p24.2	SLC1A1	rs7856675-A	0.82	8E-6	(AA)	0.22	[0.12-0.32] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
621	chr9	4744742	4744743	rs409801	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	9p24.1	AK3	rs409801-C	NR	3E-49		5.585	[4.84-6.33] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
621	chr9	4763175	4763176	rs385893	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Platelet count	14,806 Japanese ancestry individuals	NA	9p24.1	RCL1	rs385893-T	0.25	3E-13		0.099	[0.072-0.126] unit decrease	Illumina [561583]	N
621	chr9	4763175	4763176	rs385893	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Platelet count	14,806 Japanese ancestry individuals	NA	9p24.1	AK3	rs385893-C	0.76	3E-13		5.928	[4.344-7.507] unit increase	Illumina [561583]	N
621	chr9	4763175	4763176	rs385893	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	9p24.1	AK3	rs385893-C	NR	9E-17	(PLT)	6.26	[4.78-7.74] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
621	chr9	4774014	4774015	rs296859	24065183	Armour JA	2013-09-25	Heredity (Edinb)	Genome-wide association study of handedness excludes simple genetic models.	Handedness	173 European ancestry left-handed individuals, 1,412 European ancestry right-handed individuals	NA	9p24.1	intergenic	rs296859-?	NR	4E-7				Illumina [2499296] (imputed)	N
621	chr9	4792338	4792339	rs423955	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Platelet count	13,582 European ancestry individuals	NA	9p24.1	RCL1	rs423955-A	0.66	1E-9		4.94	[NR] unit increase	Illumina [476395]	N
621	chr9	4814947	4814948	rs13300663	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	9p24.1	RCL1	rs13300663-C	NR	1E-29		5.585	[4.64-6.53] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
621	chr9	4834393	4834394	rs457287	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Platelet count	7,943 African American children, 6,234 European ancestry children	NA	9p24.1	RCL1	rs457287-A	NR	1E-6		5.987	[3.55-8.42] unit decrease	Illumina [544917]	N
621	chr9	4844264	4844265	rs2236496	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	9p24.1	RCL1	rs2236496-T	NR	2E-7		0.4162	[0.26-0.57] unit increase	Illumina [544917]	N
621	chr9	4844264	4844265	rs2236496	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	9p24.1	RCL1	rs2236496-C	0.22	1E-19	(EA, MCV)	0.279	[0.22-0.34] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
621	chr9	4844264	4844265	rs2236496	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	9p24.1	RCL1	rs2236496-C	0.47	3E-14		0.09	[0.066-0.114] unit decrease	Illumina [561583]	N
621	chr9	4844264	4844265	rs2236496	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	9p24.1	RCL1	rs2236496-C	0.47	6E-11		0.077	[0.053-0.101] unit decrease	Illumina [561583]	N
621	chr9	4845519	4845520	rs10815094	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	9p24.1	RCL1	rs10815094-A	NR	5E-6		0.1461	[0.083-0.209] unit increase	Illumina [544917]	N
622	chr9	4856876	4856877	rs10758658	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	9p24.1	RCL1	rs10758658-A	NR	3E-20		0.0	[0.003-0.005] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
622	chr9	4856876	4856877	rs10758658	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	9p24.1	RCL1	rs10758658-A	NR	2E-14		0.0	[0.004-0.006] pg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
622	chr9	4888440	4888441	rs9969783	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	9p24.1	intergenic	rs9969783-A	0.4562	2E-6	(Primary)	0.2949	[0.17-0.42] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
623	chr9	4981600	4981601	rs75900472	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	9p24.1	NR	rs75900472-C	0.3496	1E-28	(EA)	1.1539809	[1.13-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
623	chr9	4981600	4981601	rs75900472	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	9p24.1	NR	rs75900472-C	0.3496	5E-48	(EA)	1.160397	[1.14-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
623	chr9	4981600	4981601	rs75900472	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	9p24.1	NR	rs75900472-C	0.3496	4E-34	(EA)	1.1615441	[1.14-1.19]	Affymetrix, Illumina [~ 9000000] (imputed)	N
623	chr9	4981601	4981602	rs10758669	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	9p24.1	JAK2	rs10758669-C	0.349	8E-45		1.174	[1.139-1.209]	Affymetrix, Illumina [1230000] (imputed)	N
623	chr9	4981601	4981602	rs10758669	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	9p24.1	JAK2	rs10758669-C	0.35	2E-25		1.17	[1.12-1.21]	Affymetrix, Illumina [~ 1100000] (imputed)	N
623	chr9	4981601	4981602	rs10758669	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	9p24.1	JAK2	rs10758669-C	0.349	1E-13		1.18	[1.13-1.23]	Affymetrix, Illumina [953241] (imputed)	N
623	chr9	4981601	4981602	rs10758669	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	9p24.1	JAK2	rs10758669-C	NR	1E-6		1.16	[NR]	Illumina [266047]	N
623	chr9	4981601	4981602	rs10758669	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	9p24.1	JAK2	rs10758669-C	0.35	3E-9		1.12	[NR]	Affymetrix, Illumina [635547] (imputed)	N
623	chr9	4985878	4985879	rs2274471	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	9p24.1	JAK2	rs2274471-A	NR	5E-6		1.27	[1.15-1.41]	Illumina [4929034] (imputed)	N
623	chr9	5063295	5063296	rs12339666	25849990	Tapper W	2015-04-07	Nat Commun	Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.	Myeloproliferative neoplasms	524 European ancestry JAK2 negative cases, 2,674 European ancestry controls	1,383 European ancestry JAK2 negative cases, 4,609 European ancestry controls, 526 JAK2 negative cases, 5,506 controls	9p24.1	JAK2	rs12339666-T	0.26	1E-10		1.34	[1.23-1.47]	Affymetrix [2098039] (imputed)	N
623	chr9	5070830	5070831	rs10974944	19287384	Kilpivaara O	2009-03-15	Nat Genet	A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.	Myeloproliferative neoplasms	324 European ancestry cases, 2,999 European ancestry controls	NA	9p24.1	JAK2	rs10974944-?	NR	4E-20		3.1	[2.40-4.00]	Affymetrix [62775]	N
624	chr9	5213686	5213687	rs10975003	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	9p24.1	INSL6, INSL4, JAK2	rs10975003-C	0.19	1E-6		1.34	[1.18-1.51]	Illumina [513923]	N
626	chr9	5410722	5410723	rs1535454	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.1	C9orf46	rs1535454-A	0.045	3E-6	(TG )	0.03	[NR] mg/dL increase	Illumina [899892]	N
627	chr9	5551944	5551945	rs7869190	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	9p24.1	NR	rs7869190-?		7E-6		0.32	unit decrease	Illumina [1211988] (imputed)	N
629	chr9	5893860	5893861	rs2150702	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	9p24.1	MLANA	rs2150702-G	0.49	3E-8		1.16	[NR]	Affymetrix, Illumina [2529394]	N
630	chr9	5972758	5972759	rs139863644	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	9p24.1	NR	rs139863644-?		3E-7	(PCB189)	1.23	[0.76-1.7] unit increase	Illumina [8736858] (imputed)	N
631	chr9	6068076	6068077	rs343496	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	9p24.1	RANBP6	rs343496-T		2E-6		1.1351	[1.08-1.19]	Illumina [up to 4972397] (imputed)	N
632	chr9	6172379	6172380	rs7032572	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	9p24.1	RANBP6, IL33	rs7032572-G	0.1665	2E-9		0.1135	[0.077-0.15] unit increase	Illumina [2400000] (imputed)	N
632	chr9	6175854	6175855	rs72699186	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	9p24.1	IL33	rs72699186-T	0.15	2E-9		1.26	[1.16-1.35]	Illumina [up to 4972397] (imputed)	N
632	chr9	6190075	6190076	rs1342326	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	9p24.1	IL33	rs1342326-C	0.16	9E-10		1.2	[1.13-1.28]	Illumina [582892]	N
632	chr9	6193454	6193455	rs2381416	21804549	Torgerson DG	2011-07-31	Nat Genet	Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.	Asthma	2,088 European ancestry cases, 1,612 African American and African Caribbean cases, 1,688 Hispanic cases	2,727 European ancestry cases, 2,147 African American and African Caribbean cases, 2,299 Hispanic cases	9p24.1	IL33	rs2381416-?	NR	2E-12				Affymetrix, Illumina [> 2000000] (imputed)	N
632	chr9	6213386	6213387	rs928413	24241537	Bonnelykke K	2013-11-17	Nat Genet	A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.	Asthma (childhood onset)	1,173 European ancestry cases, 2,511 European ancestry controls	395 European ancestry cases, 2,663 European ancestry controls, 63 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry cases, 917 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry controls, 6,783 cases, 7,720 controls	9p24.1	IL33	rs928413-G	0.28	9E-13		1.24	[1.17-1.32]	Affymetrix, Illumina [124514]	N
632	chr9	6253570	6253571	rs10975519	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	9p24.1	IL33	rs10975519-A	0.3	9E-7		1.19	[NR]	Illumina [580699]	N
634	chr9	6486307	6486308	rs16924631	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	9p24.1	UHRF2, GLDC, TPD52L3, IL33	rs16924631-C	0.122	3E-6	(Red)	2.29	[1.61-3.24]	Affymetrix [~ 2500000] (imputed)	N
635	chr9	6643980	6643981	rs150484890	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	9p24.1	NR	rs150484890-?		5E-7	(PCB170)	1.27	[0.78-1.76] unit decrease	Illumina [8736858] (imputed)	N
636	chr9	6784725	6784726	rs10815468	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	9p24.1	NR	rs10815468-?	NR	7E-6		1.2194	[NR]	Affymetrix [722112]	N
637	chr9	6849316	6849317	rs4742269	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	9p24.1	KDM4C	rs4742269-?	0.14	5E-6				Affymetrix, Illumina [1348798]	N
637	chr9	6880262	6880263	rs10975870	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p24.1	KDM4C	rs10975870-G	0.239	8E-7	(EA)	0.024	[0.014-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
637	chr9	6880262	6880263	rs10975870	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p24.1	KDM4C	rs10975870-G	0.234	3E-7		0.024	[0.015-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
637	chr9	6942939	6942940	rs7037266	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9p24.1	KDM4C	rs7037266-A	0.37	5E-9		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
638	chr9	7043454	7043455	rs16925187	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	9p24.1	KDM4C	rs16925187-?	NR	5E-6	(Response)	0.1	[0.061-0.139] ng/dL increase	Affymetrix [2543887] (imputed)	N
639	chr9	7081673	7081674	rs16925298	25786224	Johnson EO	2015-03-18	PLoS One	Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.	HIV-1 susceptibility	628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls	1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls	9p24.1	KDM4C	rs16925298-G	0.06	2E-6		1.3	[0.97-1.72] (AA)	Illumina [~ 8000000] (imputed)	N
639	chr9	7174672	7174673	rs913588	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9p24.1	KDM4C	rs913588-G	0.49	6E-11		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
639	chr9	7177283	7177284	rs2026714	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p24.1	NR	rs2026714-G	NR	4E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
639	chr9	7195407	7195408	rs2820914	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.1	JMJD2C	rs2820914-G	0.14	2E-6	(TG )	0.02	[NR] mg/dL increase	Illumina [899892]	N
640	chr9	7267613	7267614	rs60244812	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	9p24.1	JMJD2C, LOC158345	rs60244812-A	0.029	7E-7		4.04	[2.23-7.3]	Illumina [1556551]	N
640	chr9	7274695	7274696	rs1887867	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.1	JMJD2C	rs1887867-G	0.405	6E-6	(Fat oxidation )	0.03	[NR] %NPEE increase	Illumina [899892]	N
640	chr9	7274695	7274696	rs1887867	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.1	JMJD2C	rs1887867-G	0.405	1E-6	(Total energy expenditure RQ)	0.04	[NR] unit increase	Illumina [899892]	N
642	chr9	7509894	7509895	rs10119066	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	9p24.1	NR	rs10119066-T	0.057	1E-6		2.51	[1.74-3.64]	Illumina [7261187] (imputed)	N
642	chr9	7518655	7518656	rs2381628	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p24.1	NR	rs2381628-C	0.816537394303516	6E-6	(IGP17)	0.1783	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
642	chr9	7558260	7558261	rs4400445	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.1	LOC392285	rs4400445-A	0.124	9E-6	(Weight z-score )	0.02	[NR] SD increase	Illumina [899892]	N
642	chr9	7558260	7558261	rs4400445	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p24.1	LOC392285	rs4400445-A	0.124	8E-6	(Hip circumference )	0.03	[NR] cm increase	Illumina [899892]	N
643	chr9	7649441	7649442	rs2930713	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	9p24.1	intergenic	rs2930713-T	0.523	2E-6		0.021	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
643	chr9	7682600	7682601	rs842304	21160409	Petrovski S	2010-12-14	AIDS	Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.	HIV-1 susceptibility	531 Sub-Saharan African ancestry cases, 848 Sub-Saharan African ancestry controls	NA	9p24.1	AL591509.5	rs842304-?	0.42	4E-6				Illumina [~ 800000]	N
644	chr9	7734249	7734250	rs10758892	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		9p24.1	intergenic	rs10758892-?	0.059	9E-6			[NR]	Affymetrix, Illumina [152234]	N
645	chr9	7925380	7925381	rs1535480	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	9p24.1	NR	rs1535480-?	NR	4E-7	(braces)			Illumina [535076]	N
646	chr9	8012417	8012418	rs12682851	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	9p24.1	C9orf123	rs12682851-?	NR	2E-6	(rs1447295)	1.3889	[1.22-1.59]	Affymetrix, Illumina [1117531] (imputed)	N
646	chr9	8045605	8045606	rs2146180	23903073	Kim HN	2013-08-01	J Hum Genet	Genome-wide association study of the five-factor model of personality in young Korean women.	Personality dimensions	1,089 Korean ancestry females	2,090 Korean ancestry individuals	9p24.1	PTPRD	rs2146180-G		3E-8	(Openness)	0.06	[-0.0184-0.1384] unit decrease	Illumina [2053685] (imputed)	N
647	chr9	8196510	8196511	rs7044355	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	9p24.1	PTPRD	rs7044355-G	0.501	1E-7	(collagen)			Affymetrix, Illumina [~ 2330000] (imputed)	N
647	chr9	8235632	8235633	rs10815798	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	9p24.1	PTPRD	rs10815798-A	0.48	6E-6				Perlegen [378332]	N
651	chr9	8658953	8658954	rs118106262	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	9p24.1	intergenic	rs118106262-G	0.018	8E-6		4.47	[2.19-9.15]	Illumina [1556551]	N
651	chr9	8695232	8695233	rs16928280	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	9p24.1	PTPRD	rs16928280-?		3E-10	(IFN gamma response)			Illumina [NR]	N
652	chr9	8846954	8846955	rs1975197	21779176	Winkelmann J	2011-07-14	PLoS Genet	Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.	Restless legs syndrome	922 European ancestry cases, 1,526 European ancestry controls	3,935 European ancestry cases, 5,754 European ancestry controls	9p24.1	PTPRD	rs1975197-A	0.16	3E-10		1.29	[1.19-1.40]	Affymetrix [301406]	N
652	chr9	8846954	8846955	rs1975197	18660810	Schormair B	2008-07-27	Nat Genet	PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.	Restless legs syndrome	628 European ancestry cases, 1,644 European ancestry controls	1,550 European ancestry cases, 2,269 European ancestry controls, 285 French Canadian founder cases, 842 French Canadian founder controls	9p24.1	PTPRD	rs1975197-T	0.16	6E-9		1.31	[1.20-1.44]	Affymetrix [208733]	N
652	chr9	8879117	8879118	rs17584499	20174558	Tsai FJ	2010-02-19	PLoS Genet	A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.	Type 2 diabetes	995 Han Chinese ancestry cases, 894 Han Chinese ancestry controls	1,803 Han Chinese ancestry cases, 1,473 Han Chinese ancestry controls	9p24.1	PTPRD	rs17584499-T	0.06	9E-10		1.57	[1.36-1.82]	Illumina [516737]	N
652	chr9	8897186	8897187	rs60250264	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	9p24.1	NR	rs60250264-?	NR	2E-6	(Latino)	1.3059	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
653	chr9	9015086	9015087	rs78925264	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	9p23	NR	rs78925264-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
653	chr9	9020222	9020223	rs378363	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	9p23	intergenic	rs378363-?	0.77	8E-6		1.14	[1.08-1.2]	Affymetrix, Illumina [~ 2300000] (imputed)	N
654	chr9	9142492	9142493	rs62529502	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	9p23	NR	rs62529502-?	NR	2E-7	(AA)	1.2801	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
655	chr9	9261736	9261737	rs4626664	18660810	Schormair B	2008-07-27	Nat Genet	PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.	Restless legs syndrome	628 European ancestry cases, 1,644 European ancestry controls	1,550 European ancestry cases, 2,269 European ancestry controls, 285 French Canadian founder cases, 842 French Canadian founder controls	9p23	PTPRD	rs4626664-A	0.12	6E-10		1.44	[1.31-1.59]	Affymetrix [208733]	N
660	chr9	9910122	9910123	rs10759102	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	9p23	PTPRD	rs10759102-?	0.67	1E-6	(FEV1 65%)	1.23	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
660	chr9	9924723	9924724	rs7849581	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		9p23	PTPRD	rs7849581-?	0.012	9E-7			[NR]	Affymetrix, Illumina [152234]	N
661	chr9	10036568	10036568	rs71321217	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Gait rhythm	2,946 individuals	NA	9p23	PTPRD	rs71321217-?	0.27	8E-7		0.144	[0.087-0.201] unit increase	Illumina [6200000] (imputed)	N
661	chr9	10043013	10043014	rs291272	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	9p23	PTPRD	rs291272-T	0.965	5E-6	(Persistence)	0.2	unit decrease	Affymetrix, Illumina [1252222] (imputed)	N
661	chr9	10054521	10054522	rs447578	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	9p23	NR	rs447578-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
661	chr9	10060842	10060843	rs10958852	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9p23	NR	rs10958852-?	NR	3E-7	(EA)	0.8906	[0.55-1.23] unit decrease	Illumina [up to 11892802] (imputed)	N
661	chr9	10060842	10060843	rs10958852	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	9p23	NR	rs10958852-?	NR	2E-6	(EA)	0.6831	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
662	chr9	10139579	10139580	rs294845	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p23	PTPRD	rs294845-A	0.239	7E-6	(Dinner intake, adj TEE )	0.04	[NR] kcal increase	Illumina [899892]	N
662	chr9	10192289	10192290	rs294856	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety and major depressive disorder	1,080 European ancestry cases, 1,588 European ancestry controls	NA	9p23	PTPRD	rs294856-?	0.58	2E-6		1.34	[NR]	Illumina [471581]	N
663	chr9	10255539	10255540	rs4740446	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p23	NR	rs4740446-T	NR	7E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
663	chr9	10260262	10260263	rs2475335	20522523	Kasperaviciute D	2010-06-03	Brain	Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.	Partial epilepsies	Up to 3,445 European ancestry cases, 6,935 European ancestry controls	NA	9p23	PTPRD	rs2475335-?	NR	9E-6				Illumina [528745]	N
663	chr9	10274079	10274080	rs7865468	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9p23	PTPRD	rs7865468-A	0.7	1E-7		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
663	chr9	10275797	10275798	rs10958998	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	9p23	PTPRD	rs10958998-A	0.0289	4E-6		1.194	[NR] unit decrease	Illumina [1216074] (imputed)	N
664	chr9	10395254	10395255	rs11793419	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	9p23	PTPRD	rs11793419-?		5E-6				Illumina [5970354] (imputed)	N
664	chr9	10430601	10430602	rs649891	21647700	Below JE	2011-06-07	Diabetologia	Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.	Type 2 diabetes	837 Mexican American cases, 436 Mexican American controls	967 Mexican ancestry cases, 343 Mexican ancestry controls	9p23	PTPRD	rs649891-C	0.35	6E-6				Affymetrix [1829586] (imputed)	N
665	chr9	10505223	10505224	rs72700966	23962720	Speed D	2013-08-19	Hum Mol Genet	A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.	Epilepsy (remission after treatment)	889 European and unknown ancestry epilepsy cases	NA	9p23	PTPRD	rs72700966-C	0.92	3E-7		2.7	[NR]	Illumina [6923995] (imputed)	N
668	chr9	10881230	10881231	rs113399772	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	9p23	NR	rs113399772-A	NR	2E-6		0.061	[0.034-0.088] unit increase	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
669	chr9	11114857	11114858	rs13288988	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	9p23	NR	rs13288988-T	0.0637	4E-6	(Trans-16:1n-7, EA)	0.0051	[0.0029-0.0073] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
669	chr9	11136284	11136285	rs7870863	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	9p23	NR	rs7870863-A	0.0623	4E-6	(Trans-16:1n-7, EA)	0.0048	[0.0028-0.0068] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
670	chr9	11257447	11257448	rs10959672	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	9p23	intergenic	rs10959672-?	NR	5E-7	(SF1)			Affymetrix [5476100] (imputed)	N
671	chr9	11402318	11402319	rs10809457	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		9p23	PTPRD	rs10809457-T	NR	9E-7		0.1394	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
675	chr9	11890044	11890045	rs4401971	24821223	Mattheisen M	2014-05-13	Mol Psychiatry	Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS.	Obsessive-compulsive disorder	1,406 cases and 1,489 controls from 1,065 families, 192 cases, 1,984 controls	NA	9p23	PTPRD, LOC646114, LOC100049717	rs4401971-?	NR	4E-7				Illumina [549123]	N
676	chr9	11930363	11930364	rs35419961	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	9p23	intergenic	rs35419961-A		2E-6		366.98	[215.04-518.92] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
676	chr9	11951221	11951222	rs1929412	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	9p23	TYRP1	rs1929412-?		8E-6				Illumina [859311]	N
676	chr9	11964871	11964872	rs12001137	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	9p23	RP11-74C3.1	rs12001137-?	NR	2E-6	(Shared)			Affymetrix, Illumina [~ 5200000]	N
677	chr9	12108915	12108916	rs12351590	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		9p23	intergenic	rs12351590-?	NR	5E-6				Illumina [~ 2400000] (imputed)	N
677	chr9	12108915	12108916	rs12351590	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	9p23	intergenic	rs12351590-?	NR	3E-6				Illumina [~ 2400000] (imputed)	N
679	chr9	12396730	12396731	rs13289810	22556244	Kenny EE	2012-05-04	Science	Melanesian blond hair is caused by an amino acid change in TYRP1.	Hair color	43 Solomon Islander ancestry blond haired individuals, 42 Solomon Islander ancestry dark haired individuals	NA	9p23	TYRP1	rs13289810-?	0.31	1E-19				Illumina [589241]	N
680	chr9	12521825	12521826	rs16929097	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	9p23	intergenic	rs16929097-?	NR	8E-9				Affymetrix [786195]	N
680	chr9	12582564	12582565	rs1325154	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	9p23	intergenic	rs1325154-C	NR	5E-6	(later onset)			Perlegen [429981]	N
681	chr9	12672096	12672097	rs1408799	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Eye color	3871 European ancestry individuals	2,496 European ancestry individuals	9p23	TYRP1	rs1408799-C	NR	5E-7	(Blue eye color)	0.27	[0.17-0.37] unit decrease	Affymetrix, Illumina [2469762] (imputed)	N
681	chr9	12672096	12672097	rs1408799	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Blue vs. green eyes	5,130 individuals	3,330 individuals	9p23	TYRP1	rs1408799-C	0.75	6E-17		1.4	[1.25-1.57]	Illumina [316515]	N
683	chr9	12914395	12914396	rs1953021	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	9p23	C9orf150	rs1953021-T	0.71	1E-6	(Age 20-81 years)	1.35	[1.20-1.53]	Affymetrix, Illumina [up to 17585496] (imputed)	N
684	chr9	13007128	13007129	rs1360517	19754311	Le Clerc S	2009-09-15	J Infect Dis	Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).	AIDS	85 European ancestry cases, 2,049 European ancestry controls	NA	9p23	intergenic	rs1360517-A	0.06	3E-6		3.09	[2.00-4.78]	Illumina [291119]	N
687	chr9	13475445	13475446	rs150066336	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	9p23	NR	rs150066336-?	NR	2E-7		0.6169	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
688	chr9	13557490	13557491	rs1324183	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	9p23	NF1B, MPDZ	rs1324183-A	0.2	8E-9		0.05	[0.011-0.089] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
689	chr9	13704538	13704539	rs1998584	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	9p23	intergenic	rs1998584-?		2E-6	(overall survival)	1.76	[1.39-2.22]	Illumina [729737]	N
690	chr9	13844677	13844678	rs59827721	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	9p23	LINC00583	rs59827721-?	NR	2E-10	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
692	chr9	14064740	14064741	rs7039300	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	9p23	NFIB	rs7039300-G	0.23	2E-6	(Cortical Ab)			Illumina [6108668] (imputed)	N
693	chr9	14190286	14190287	rs7034162	26084801	Mirabello L	2015-06-17	Cancer Discov	A genome-wide scan identifies variants in NFIB associated with metastasis in patients with osteosarcoma.	Metastasis at diagnosis in osteosarcoma	122 European ancestry cases with metastasis, 419 European ancestry cases without metastasis	43 European ancestry cases with metastasis, 22 African ancestry cases with metastasis, 40 Brazilian ancestry cases with metastasis, 183 European ancestry cases without metastasis, 39 African ancestry cases without metastasis, 67 Brazilian ancestry cases without metastasis	9p23	NFIB	rs7034162-A	0.11	3E-8	(EA)	2.62	[1.86-3.68]	Illumina [447040]	N
693	chr9	14190286	14190287	rs7034162	26084801	Mirabello L	2015-06-17	Cancer Discov	A genome-wide scan identifies variants in NFIB associated with metastasis in patients with osteosarcoma.	Metastasis at diagnosis in osteosarcoma	122 European ancestry cases with metastasis, 419 European ancestry cases without metastasis	43 European ancestry cases with metastasis, 22 African ancestry cases with metastasis, 40 Brazilian ancestry cases with metastasis, 183 European ancestry cases without metastasis, 39 African ancestry cases without metastasis, 67 Brazilian ancestry cases without metastasis	9p23	NFIB	rs7034162-A	0.1	1E-9		2.43	[1.83-3.24]	Illumina [447040]	N
695	chr9	14441676	14441677	rs59677118	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		9p22.3	intergenic	rs59677118-?	0.06	1E-6		0.14	[0.081-0.199] unit increase	Illumina [4058415] (imputed)	N
695	chr9	14446000	14446001	rs1556032	19754311	Le Clerc S	2009-09-15	J Infect Dis	Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).	AIDS	85 European ancestry cases, 2,049 European ancestry controls	NA	9p22.3	NR	rs1556032-C	0.49	9E-6		2.05	[1.48-2.84]	Illumina [291119]	N
695	chr9	14470832	14470833	rs10961534	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	9p22.3	TRNAH, GUG, ZDHHC21	rs10961534-G	0.116	7E-6		1.193	[1.11-1.29]	Illumina [870065]	N
696	chr9	14562313	14562314	rs10961577	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	9p22.3	ZDHHC21	rs10961577-C	0.96	7E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
698	chr9	14898160	14898161	rs10961780	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	9p22.3	FREM1	rs10961780-G	0.33	2E-6		0.4	[NR] cm decrease	Affymetrix [334546]	N
700	chr9	15104560	15104561	rs10756650	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	9p22.3	PSIP1P	rs10756650-A		5E-6		0.1	[0.06-0.15] unit increase	Affymetrix [~ 2500000] (imputed)	N
700	chr9	15157976	15157977	rs1780159	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	9p22.3	C9orf52	rs1780159-T	NR	6E-6		0.03	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
701	chr9	15283096	15283097	rs12003180	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	9p22.3	NR	rs12003180-?	NR	5E-6		1.6032	[NR]	Affymetrix [722112]	N
701	chr9	15289577	15289578	rs471364	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	9p22.3	TTC39B	rs471364-C	0.12	3E-10		0.08	[0.02-0.14] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
701	chr9	15294595	15294596	rs540885	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	9p22.3	TTC39B	rs540885-A	0.87	5E-10		0.055	[0.037-0.073] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
701	chr9	15296033	15296034	rs643531	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	9p22.3	TTC39B	rs643531-C	0.07	7E-9		0.01	[0.009-0.017] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
701	chr9	15305377	15305378	rs581080	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	9p22.3	TTC39B	rs581080-G	0.21	1E-19		0.042	[NR] unit decrease	NR [NR] (imputed)	N
701	chr9	15305377	15305378	rs581080	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	9p22.3	TTC39B	rs581080-G	0.21	1E-13		0.038	[NR] unit decrease	NR [NR] (imputed)	N
701	chr9	15305377	15305378	rs581080	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	9p22.3	TTC39B	rs581080-C	0.14	1E-13		0.72	[0.52-0.92] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
701	chr9	15305377	15305378	rs581080	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	9p22.3	TTC39B	rs581080-G	0.18	3E-9		1.57	[1.06-2.08] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
701	chr9	15309927	15309928	rs2245641	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	9p22.3	TTC39B	rs2245641-?	NR	2E-6	(SM vs. Control)	1.896	[NR]	Affymetrix [703012]	N
702	chr9	15335913	15335914	rs16933006	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p22.3	RPL7P3	rs16933006-C	0.11	8E-8	(Light activity )	0.04	[NR] min/d increase	Illumina [899892]	N
702	chr9	15335913	15335914	rs16933006	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p22.3	RPL7P3	rs16933006-C	0.11	4E-6	(Sedentary activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
702	chr9	15335913	15335914	rs16933006	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p22.3	RPL7P3	rs16933006-C	0.11	1E-6	(Light activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
702	chr9	15457776	15457777	rs9650682	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p22.3	NR	rs9650682-G	NR	9E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
704	chr9	15634325	15634326	rs4740619	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p22.3	C9orf93	rs4740619-T	0.542	5E-9	(EA)	0.018	[0.012-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
704	chr9	15634325	15634326	rs4740619	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p22.3	C9orf93	rs4740619-T	0.54	9E-7	(EA, men)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
704	chr9	15634325	15634326	rs4740619	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p22.3	C9orf93	rs4740619-T	0.54	6E-9		0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
706	chr9	15986715	15986716	rs1927702	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	9p22.3	NR	rs1927702-G	0.42	6E-6	(females)	0.08	[NR] kg increase	Illumina [318237]	N
707	chr9	16000234	16000235	rs79156074	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	9p22.3	intergenic	rs79156074-T		2E-6		0.2824	unit increase	Illumina [5767231] (imputed)	N
707	chr9	16034537	16034538	rs3008706	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	9p22.3	intergenic	rs3008706-?	0.035	5E-7		0.063	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
709	chr9	16286889	16286890	rs13287547	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	9p22.3	C9orf92, BNC2	rs13287547-?	0.04	7E-7		4.8	[NR]	Affymetrix [4893794] (imputed)	N
709	chr9	16368731	16368732	rs7864648	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9p22.3	BNC2	rs7864648-T	0.32	2E-8		0.022	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
710	chr9	16385131	16385132	rs9406636	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	9p22.3	BNC2	rs9406636-A		9E-7		0.09	[0.05-0.13] unit decrease	Affymetrix [~ 2500000] (imputed)	N
710	chr9	16414505	16414506	rs76780579	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	9p22.3	intergenic	rs76780579-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
710	chr9	16512747	16512748	rs10124550	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	9p22.3	BNC2	rs10124550-A		7E-7		0.16	[0.09-0.21] unit increase	Affymetrix [~ 2500000] (imputed)	N
711	chr9	16611691	16611692	rs1337391	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	9p22.2	BNC2	rs1337391-A	0.08	9E-6	(Right HG area)	14.38	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
712	chr9	16681992	16681993	rs3904778	26211971	Ogura Y	2015-07-23	Am J Hum Genet	A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.	Adolescent idiopathic scoliosis	2,109 Japanese ancestry cases, 11,140 Japanese ancestry controls	2,223 East Asian ancestry cases, 4,724 East Asian ancestry controls	9p22.2	BNC2	rs3904778-G	0.414	5E-8	(Japanese)	1.21	[1.14-1.28]	Illumina [4420789] (imputed)	N
712	chr9	16681992	16681993	rs3904778	26211971	Ogura Y	2015-07-23	Am J Hum Genet	A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.	Adolescent idiopathic scoliosis	2,109 Japanese ancestry cases, 11,140 Japanese ancestry controls	2,223 East Asian ancestry cases, 4,724 East Asian ancestry controls	9p22.2	BNC2	rs3904778-G	0.414	2E-13		1.21	[1.15-1.27]	Illumina [4420789] (imputed)	N
713	chr9	16864520	16864521	rs2153271	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Freckling	9,126 European ancestry individuals	NA	9p22.2	BNC2	rs2153271-C	0.41	4E-10		0.4	[NR] unit decrease	Illumina [535076]	N
713	chr9	16901066	16901067	rs62543565	25705849	Jacobs LC	2015-02-23	J Invest Dermatol	A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.	Facial pigmentation	2,844 European ancestry individuals	NA	9p22.2	BCN2	rs62543565-C	0.37	2E-7		6.32	[6.31-6.33] unit decrease	Illumina [6846125] (imputed)	N
714	chr9	16915020	16915021	rs3814113	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	9p22.2	BNC2	rs3814113-G	0.32	6E-50		1.2658228	[1.22-1.32]	Illumina [up to 10962898] (imputed)	N
714	chr9	16915020	16915021	rs3814113	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Ovarian cancer in BRCA1 mutation carriers	683 European ancestry cases, 2,044 European ancestry controls	1,706 European ancestry cases, 10,258 European ancestry controls	9p22.2	intergenic	rs3814113-A	0.66	6E-11		1.3	[1.2-1.41]	Illumina [2568349] (imputed)	N
714	chr9	16915020	16915021	rs3814113	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	9p22.2	NR	rs3814113-?	0.68	4E-32	(Serious invasive)	1.28	[1.23-1.33]	Illumina [2508744] (imputed)	N
714	chr9	16915020	16915021	rs3814113	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	9p22.2	NR	rs3814113-?	0.68	4E-29	(All invasive)	1.21	[1.17-1.25]	Illumina [2508744] (imputed)	N
714	chr9	16915020	16915021	rs3814113	19648919	Song H	2009-08-02	Nat Genet	A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.	Ovarian cancer	1,817 European ancestry cases, 2,353 European ancestry controls	6,944 European ancestry cases, 9,477 European ancestry controls	9p22.2	BNC2, LOC648570, CNTLN	rs3814113-T	0.68	5E-19		1.22	[1.16-1.27]	Illumina [up to 2000000] (imputed)	N
714	chr9	16970808	16970809	rs4961511	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		9p22.2	NR	rs4961511-G		9E-6		0.047	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
716	chr9	17283347	17283348	rs11739210	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	9p22.2	intergenic	rs11739210-C	0.9824	8E-6	(Ordinal II)	1.1285	[0.63-1.62] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
718	chr9	17458871	17458872	rs10810790	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	9p22.2	CNTLN	rs10810790-?	NR	6E-6	(SF7)			Affymetrix [5476100] (imputed)	N
718	chr9	17487944	17487945	rs2383024	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	9p22.2	intergenic	rs2383024-?	NR	9E-6	(FEV1 decline in asthmatics)	0.1829	[0.10-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
720	chr9	17731920	17731921	rs1536076	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	9p22.2	SH3GL2	rs1536076-?	NR	5E-7		1.16	[NR]	Illumina [2500000] (imputed)	N
721	chr9	17895104	17895105	rs10810865	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	9p22.2	SH3GL2	rs10810865-?	0.127	4E-6	(PAL6)			Illumina [475971]	N
721	chr9	17938350	17938351	rs1755289	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	9p22.2	SH3GL2	rs1755289-?	0.61	3E-6		1.35	[NR]	Illumina [551642]	N
722	chr9	17979577	17979578	rs1755271	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p22.2	SH3GL2	rs1755271-A	0.298	2E-6	(Light activity )	0.04	[NR] min/d increase	Illumina [899892]	N
723	chr9	18109234	18109235	rs2210327	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	9p22.2	SH3GL2	rs2210327-?	0.19	7E-7	(AA)	3.14	[0.99-10.00]	Affymetrix, Illumina [2478304] (imputed)	N
723	chr9	18215279	18215280	rs1944766	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	9p22.2	ADAMTSL1	rs1944766-C	0.44	3E-6	(univariate, upper trunk)			Illumina [319818]	N
724	chr9	18251854	18251855	rs10810935	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	9p22.2	NR	rs10810935-A	0.73	2E-6		1.35	[1.23-1.47]	Illumina [4058415] (imputed)	N
725	chr9	18444137	18444138	rs6475216	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p22.2	ADAMTSL1	rs6475216-A	0.484	9E-6	(Trunk fat mass )	0.03	[NR] kg increase	Illumina [899892]	N
725	chr9	18458067	18458068	rs1340043	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p22.2	ADAMTSL1	rs1340043-A	0.41	9E-6	(Fat mass )	0.03	[NR] kg increase	Illumina [899892]	N
727	chr9	18640589	18640590	rs7863100	25271088	Singh A	2014-10-01	Eur J Hum Genet	Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.	Hip circumference (psychosocial stress interaction)	2,460 European ancestry individuals, 548 Chinese ancestry individuals,   1,547 African American individuals, 1,250 Hispanic individuals	3,157 European ancestry individuals	9p22.1	ADAMTSL1	rs7863100-?	NR	8E-6	(Hispanics)			Affymetrix [528298]	N
727	chr9	18657557	18657558	rs776776	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	9p22.1	ADAMTSL1	rs776776-?		2E-6				Illumina [859311]	N
728	chr9	18761098	18761099	rs1978746	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	9p22.1	ADAMTSL1	rs1978746-A	0.79	8E-6	(Thiazides)			Affymetrix, Illumina [~ 2500000] (imputed)	N
729	chr9	18890060	18890061	rs114646018	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	9p22.1	intergenic	rs114646018-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
729	chr9	18930221	18930222	rs1571228	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	9p22.1	FAM154A	rs1571228-?	NR	2E-7	(Dominant model)			Affymetrix [271817]	N
731	chr9	19213633	19213634	rs141215807	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	9p22.1	DQ572382	rs141215807-T	NR	9E-6		0.222	unit increase	Illumina [5767231] (imputed)	N
734	chr9	19579426	19579427	rs3780215	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in asthmatics	1,881 European ancestry children, 810 children, 2,643 European ancestry adult individuals, 817 adult individuals	979 European ancestry children, 921 Hispanic children, 120 children	9p22.1	SLC24A2	rs3780215-A	0.20	7E-6	(adult)			Illumina [up to 536451]	N
735	chr9	19664080	19664081	rs4258076	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	9p22.1	SLC24A2	rs4258076-?	0.2668	4E-6	(VRM)			Illumina [475971]	N
738	chr9	20098710	20098711	rs16937883	19187332	Kim SH	2009-02-01	Clin Exp Allergy	Alpha-T-catenin (CTNNA3) gene was identified as a risk variant for toluene diisocyanate-induced asthma by genome-wide association analysis.	Asthma (toluene diisocyanate-induced)	84 Korean ancestry cases, 263 Korean ancestry controls	NA	9p21.3	intergenic	rs16937883-G	0.02	7E-6		5.29	[2.41-11.61]	Affymetrix [312978]	N
741	chr9	20497141	20497142	rs6475448	26083242	Dahlin A	2015-06-17	PLoS One	Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma.	Response to montelukast in asthma (change in FEV1)	88 European ancestry cases, 10 African ancestry cases, 35 Asian ancestry cases	101 European ancestry cases, 33 African ancestry cases, 50 Asian ancestry cases	9p21.3	MLLT3	rs6475448-A	NR	2E-9		129.0	[NR] mL increase (CLIC cohort)	Illumina [532264]	N
744	chr9	20844430	20844431	rs76495380	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	9p21.3	FOCAD	rs76495380-T	NR	2E-7	(Fixed effect)	0.14	[0.081-0.199] unit increase	Illumina [4736131] (imputed)	N
745	chr9	21035306	21035307	rs7867456	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	9p21.3	PTPLAD2, KIAA1797, IFNB1	rs7867456-T	0.1789	9E-6		0.1497	[0.084-0.216] unit increase	Illumina [2500000] (imputed)	N
747	chr9	21354065	21354066	rs74912790	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	9p21.3	IFNA6	rs74912790-A	0.01	1E-9		10.7	[NR]	Affymetrix [4893794] (imputed)	N
749	chr9	21499623	21499624	rs7849420	24023261	Keller M	2013-09-10	J Lipid Res	THOC5: a novel gene involved in HDL-cholesterol metabolism.	Lipid traits	839 European ancestry individuals	up to 5,248 European ancestry individuals	9p21.3	IFNE1	rs7849420-A	0.36	1E-6	(HDL-C)	4.88	unit increase	Affymetrix [390619]	N
750	chr9	21678972	21678973	rs7035284	26041818	Chesi A	2015-06-03	Hum Mol Genet	A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.	Pediatric bone mineral content (radius)	178 African American females, 159 African American males, 474 European ancestry females, 434 European ancestry males, 54 Hispanic and other ancestry females, 72 Hispanic and other ancestry males	242 European ancestry females, 239 European ancestry males	9p21.3	MTAP, MIR31HG	rs7035284-G	0.279	1E-8	(males)	0.277	[0.18-0.37] Z score increase	Illumina [7238679] (imputed)	N
750	chr9	21747802	21747803	rs4636294	19578365	Falchi M	2009-07-05	Nat Genet	Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.	Cutaneous nevi	1,524 European ancestry twins	4,107 European ancestry individuals, 3,131 European ancestry cases, 4,276 European ancestry controls	9p21.3	MTAP	rs4636294-A	0.48	3E-15		0.2	[0.13-0.27] log nevus count increase	Illumina [297108]	N
751	chr9	21816527	21816528	rs7023329	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	9p21.3	MTAP, CDKN2A	rs7023329-?	0.51	7E-9		1.2	[1.14-1.28]	Illumina [594997]	N
751	chr9	21816527	21816528	rs7023329	19578364	Bishop DT	2009-07-05	Nat Genet	Genome-wide association study identifies three loci associated with melanoma risk.	Melanoma	1,539 European ancestry cases, 3,917 European ancestry controls	2,312 European ancestry cases, 1,867 European ancestry controls	9p21.3	CDKN2A	rs7023329-A	0.50	4E-7		1.18	[1.10-1.25]	Illumina [~ 317000]	N
752	chr9	21984660	21984661	rs3731217	23996088	Migliorini G	2013-08-30	Blood	Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.	Acute lymphoblastic leukemia (B-cell precursor)	1,658 European ancestry child cases, 4,723 European ancestry controls	1,449 European ancestry child cases, 1,488 European ancestry controls	9p21.3	CDKN2A/B	rs3731217-?	NR	2E-8				Illumina [382776] (imputed)	N
752	chr9	21986846	21986847	rs3731211	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	9p21.3	CDKN2A	rs3731211-A	NR	6E-14		3.281	[2.42-4.14] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
752	chr9	21997014	21997015	rs61271866	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	9p21.3	CDKN2B, CDKN2A	rs61271866-A	0.190	7E-7		1.11	[1.07-1.16]	Affymetrix, Illumina [7556215] (imputed)	N
752	chr9	22003366	22003367	rs1063192	22419738	Osman W	2012-03-22	Hum Mol Genet	A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.	Glaucoma (primary open-angle)	1,394 Japanese ancestry cases, 6,599 Japanese ancestry controls	1,802 Japanese ancestry cases, 7,212 Japanese ancestry controls	9p21.3	CDKN2B	rs1063192-T	0.79	5E-11		1.33	[1.22-1.43]	Illumina [602216]	N
752	chr9	22003366	22003367	rs1063192	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Vertical cup-disc ratio	7,360 European ancestry individuals	4,455 European ancestry individuals	9p21.3	CDKN2B	rs1063192-G	0.46	4E-15		0.01	[0.010-0.018] mm2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
752	chr9	22019128	22019129	rs523096	22792221	Takamoto M	2012-07-05	PLoS One	Common variants on chromosome 9p21 are associated with normal tension glaucoma.	Glaucoma	286 Japanese ancestry cases, 557 Japanese ancestry controls	334 Japanese ancestry cases, 701 Japanese ancestry controls	9p21.3	CDKN2BAS, CDK2NA, CDKN2B	rs523096-A	0.825	5E-11		2.13	[1.69-2.68]	Affymetrix [531009]	N
753	chr9	22026076	22026077	rs615552	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	9p21.3	intergenic	rs615552-C	0.43	4E-6		1.1	[1.06-1.14]	Affymetrix, Illumina [~ 2300000] (imputed)	N
753	chr9	22029546	22029547	rs564398	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs564398-T	0.56	1E-6		1.13	[1.08-1.19]	Affymetrix [393453]	N
753	chr9	22031004	22031005	rs7865618	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	9p21.3	CDKN2B-AS1	rs7865618-G	0.44	9E-20	(EA)	0.024	[0.018-0.030] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
753	chr9	22031004	22031005	rs7865618	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	9p21.3	CDKN2B-AS1	rs7865618-G	0.44	1E-21		0.023	[0.019-0.027] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
753	chr9	22031004	22031005	rs7865618	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	9p21.3	CDKN2BAS	rs7865618-G	NR	5E-24		0.013	[0.011-0.015] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
753	chr9	22031004	22031005	rs7865618	22428042	Nakano M	2012-03-12	PLoS One	Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese.	Glaucoma (primary open-angle)	833 Japanese ancestry cases, 686 Japanese ancestry controls	411 Japanese ancestry cases, 289 Japanese ancestry controls	9p21.3	CDKN2B-AS1	rs7865618-A	0.82	9E-11		1.78	[1.50-2.12]	Affymetrix [653519]	N
753	chr9	22031004	22031005	rs7865618	21606135	Wild PS	2011-05-23	Circ Cardiovasc Genet	A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.	Coronary heart disease	2,078 European ancestry cases, 2,953 European ancestry controls	19,350 European ancestry cases, 35,408 European ancestry controls	9p21.3	MTAP	rs7865618-A	0.59	2E-27		1.18	[1.14-1.21]	Affymetrix [608247]	N
753	chr9	22033365	22033366	rs2157719	22570617	Wiggs JL	2012-04-26	PLoS Genet	Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.	Glaucoma (primary open-angle)	3,146 European ancestry cases, 3,487 European ancestry controls	NA	9p21.3	CDKN2BAS	rs2157719-?	NR	2E-18		1.45	[1.33-1.59]	Illumina [495132] (imputed)	N
753	chr9	22033365	22033366	rs2157719	22570617	Wiggs JL	2012-04-26	PLoS Genet	Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.	Glaucoma (primary open-angle)	3,146 European ancestry cases, 3,487 European ancestry controls	NA	9p21.3	CDKN2BAS	rs2157719-?	NR	1E-12	(NPG)	1.72	[1.49-2.00]	Illumina [495132] (imputed)	N
753	chr9	22033365	22033366	rs2157719	21531791	Sanson M	2011-04-29	Hum Mol Genet	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	Glioma	4,147 European ancestry cases, 7,435 European ancestry controls	NA	9p21.3	CDKN2A, CDKN2B	rs2157719-?	NR	5E-16		1.26	[NR]	Illumina [424460]	N
753	chr9	22034718	22034719	rs2151280	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	9p21.3	CDKN2A, CDKN2B	rs2151280-G	0.532	9E-11		1.19	[NR]	Illumina [24988228] (imputed)	N
753	chr9	22034718	22034719	rs2151280	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs2151280-G		3E-10		1.2	[1.14-1.27]	Illumina [38500000] (imputed)	N
753	chr9	22041997	22041998	rs17694493	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	9p21.3	CDKN2B-AS1	rs17694493-G	0.14	4E-8	(EA)	1.1	[1.06-1.13]	Affymetrix, Illumina [up to 16852405] (imputed)	N
753	chr9	22041997	22041998	rs17694493	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	9p21.3	CDKN2B-AS1	rs17694493-G	0.14	1E-6		1.08	[1.05-1.11]	Affymetrix, Illumina [up to 16852405] (imputed)	N
753	chr9	22043925	22043926	rs1412829	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	9p21.3	CDKN2B, CDNK2A	rs1412829-?	0.89	5E-7		1.28	[1.18-1.41]	Illumina [464328]	N
753	chr9	22043925	22043926	rs1412829	19578366	Wrensch M	2009-07-05	Nat Genet	Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.	Glioma (high-grade)	692 European ancestry cases, 3,992 European ancestry controls	176 cases, 174 controls	9p21.3	intergenic	rs1412829-C	0.39	2E-10		1.42	[1.27-1.58]	Illumina [326506]	N
753	chr9	22062133	22062134	rs1011970	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs1011970-T	0.17	6E-8		1.06	[1.03-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
753	chr9	22062133	22062134	rs1011970	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs1011970-T	0.17	3E-8		1.09	[1.04-1.14]	Illumina [582886]	N
753	chr9	22068651	22068652	rs4977756	25173105	Gharahkhani P	2014-08-31	Nat Genet	Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,155 European ancestry cases, 1,922 European ancestry controls	3,548 European ancestry cases, 9,496 European ancestry controls	9p21.3	CDKN2B-AS1	rs4977756-A	NR	7E-30		1.48	[1.42-1.54]	Illumina [7594768] (imputed)	N
753	chr9	22068651	22068652	rs4977756	22886559	Rajaraman P	2012-08-11	Hum Genet	Genome-wide association study of glioma and meta-analysis.	Glioma	1,856 European ancestry cases, 4,955 European ancestry controls	5,015 European ancestry cases, 11,601 European ancestry controls	9p21.3	CDKN2BAS	rs4977756-G	.423	1E-8		1.283	[1.177-1.398]	Illumina [559977]	N
753	chr9	22068651	22068652	rs4977756	21532571	Burdon KP	2011-05-01	Nat Genet	Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.	Glaucoma	590 European ancestry cases, 3,956 European ancestry controls	892 European ancestry advanced cases, 4,582 European ancestry less severe cases	9p21.3	CDKN2B-AS1	rs4977756-A	0.60	1E-14		1.39	[1.28-1.51]	Illumina [298778]	N
753	chr9	22068651	22068652	rs4977756	19578367	Shete S	2009-07-05	Nat Genet	Genome-wide association study identifies five susceptibility loci for glioma.	Glioma	1,878 European ancestry cases, 3,670 European ancestry controls	2,545 European ancestry cases, 2,953 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs4977756-G	0.60	7E-15		1.24	[1.19-1.30]	Illumina [454576]	N
753	chr9	22072263	22072264	rs10757269	22199011	Murabito JM	2011-12-23	Circ Cardiovasc Genet	Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.	Ankle-brachial index	38,376 European ancestry individuals, 2,133 Erasmus Rucphen individuals, 1,183 Old Order Amish individuals	16,717 European ancestry individuals	9p21.3	CDKN2B	rs10757269-G	0.5	9E-9		0.0045	[0.0029-0.0061] unit decrease	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
753	chr9	22081849	22081850	rs6475606	22961961	Foroud T	2012-09-06	Stroke	Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk.	Intracranial aneurysm	1,483 European ancestry cases, 1,683 European ancestry controls	NA	9p21.3	CDKN2B-AS1	rs6475606-T	0.48	4E-8		1.35	[NR]	Affymetrix [451088]	N
753	chr9	22083403	22083404	rs1333040	20364137	Yasuno K	2010-04-04	Nat Genet	Genome-wide association study of intracranial aneurysm identifies three new risk loci.	Intracranial aneurysm	2,780 European ancestry cases, 12,515 European ancestry controls	3,111 Japanese ancestry cases, 1,666 Japanese ancestry controls	9p21.3	CDKN2A, CDKN2B	rs1333040-T	0.56	2E-22		1.32	[1.25-1.39]	Illumina [831534] (imputed)	N
753	chr9	22083403	22083404	rs1333040	18997786	Bilguvar K	2008-11-09	Nat Genet	Susceptibility loci for intracranial aneurysm in European and Japanese populations.	Intracranial aneurysm	1,580 European ancestry cases, 6,276 European ancestry controls	495 Japanese ancestry cases, 676 Japanese ancestry controls	9p21.3	CDKN2A, CDKN2B	rs1333040-T	0.55	1E-10		1.29	[1.19-1.40]	Illumina [289271]	N
753	chr9	22084309	22084310	rs1537370	23561647	van Setten J	2013-03-13	Atherosclerosis	Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction.	Coronary artery calcification	2,620 European ancestry males	NA	9p21.3	CDKN2A, CDKN2B	rs1537370-T	0.46	2E-11		0.532	[0.38-0.69] unit increase	Illumina [2500000] (imputed)	N
753	chr9	22088259	22088260	rs10757272	22286173	Low SK	2012-01-27	Hum Mol Genet	Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.	Intracranial aneurysm	1,383 Japanese ancestry cases, 5,484 Japanese ancestry controls	1,048 Japanese ancestry cases, 7,212 Japanese ancestry controls	9p21.3	CDKN2BAS	rs10757272-T	0.649	2E-7		1.213	[1.133-1.30]	Illumina [565149]	N
753	chr9	22096054	22096055	rs10757274	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	9p21.3	CDKN2A/B	rs10757274-G	0.46	8E-45		1.37	[1.31-1.43]	Affymetrix [~ 2200000] (imputed)	N
753	chr9	22098573	22098574	rs4977574	24916648	Hirokawa M	2014-06-11	Eur J Hum Genet	A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.	Myocardial infarction	1,666 Japanese ancestry cases, 3,198 Japanese ancestry controls	11,412 Japanese ancestry cases, 28,397 Japanese ancestry controls	9p21.3	intergenic	rs4977574-C	0.46	8E-6		1.22	[1.12-1.33]	Illumina [455781]	N
753	chr9	22098573	22098574	rs4977574	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	9p21.3	CDKN2A, CDKN2B	rs4977574-G	0.46	1E-22		1.29	[1.23-1.36]	Affymetrix, Illumina [~ 2300000] (imputed)	N
753	chr9	22098573	22098574	rs4977574	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	9p21.3	intergenic	rs4977574-G	NR	2E-25		1.2	[1.16-1.25]	Illumina [574919]	N
753	chr9	22098573	22098574	rs4977574	21239051	Reilly MP	2011-01-14	Lancet	Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.	Coronary artery disease	1,808 European ancestry cases, 915 European ancestry controls	10,585 European ancestry cases, 6,468 European ancestry controls	9p21.3	ANRIL, CDKN2A, CDKN2B	rs4977574-G	0.53	5E-14		1.3	[1.22-1.39]	Affymetrix, Illumina [> 2400000] (imputed)	N
753	chr9	22098573	22098574	rs4977574	19198609	Kathiresan S	2009-02-08	Nat Genet	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Myocardial infarction (early onset)	2,967 European ancestry cases, 3,075 European ancestry controls	9,746 European ancestry cases, 9,746 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs4977574-G	0.56	3E-44		1.29	[1.25-1.34]	Affymetrix [~ 2500000] (imputed)	N
753	chr9	22103812	22103813	rs1333042	23364394	Lee JY	2013-01-31	J Hum Genet	A genome-wide association study of a coronary artery disease risk variant.	Coronary heart disease	2,123 Korean ancestry cases, 3,591 Korean ancestry controls	3,052 Japanese ancestry cases, 4,976 Japanese ancestry controls	9p21.3	CDKN2A/2B	rs1333042-?	NR	1E-9		1.3	[1.19-1.41]	Affymetrix [521786]	N
753	chr9	22114468	22114469	rs10733376	25256182	Foroud T	2014-09-25	Stroke	Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.	Intracranial aneurysm	2,617 European ancestry cases, 2,548 European ancestry controls	1,516 European ancestry cases, 5,321 European ancestry controls	9p21.3	CDKN2BAS, ANRIL	rs10733376-?	NR	4E-12		1.34	[1.23-1.45]	Affymetrix [685281] (imputed)	N
753	chr9	22115104	22115105	rs10965235	20601957	Uno S	2010-07-04	Nat Genet	A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.	Endometriosis	1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls	484 Japanese ancestry cases, 3,974 Japanese ancestry controls	9p21.3	CDKN2BAS	rs10965235-C	0.802	6E-12		1.44	[1.30-1.59]	Illumina [460945]	N
753	chr9	22115285	22115286	rs944797	21971053	Takeuchi F	2011-10-05	Eur J Hum Genet	Genome-wide association study of coronary artery disease in the Japanese.	Coronary heart disease	806 Japanese ancestry cases, 1,337 Japanese ancestry controls	3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls	9p21.3	CDKN2A, CDKN2B	rs944797-C	0.46	6E-16		1.25	[1.18-1.31]	Illumina [451382]	N
753	chr9	22115958	22115959	rs2383207	20622881	Gretarsdottir S	2010-07-11	Nat Genet	Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.	Abdominal aortic aneurysm	1,292 European ancestry cases, 30,503 European ancestry controls	3,267 European ancestry cases, 7,451 European ancestry controls	9p21.3	CKDN2B, CDKN2A	rs2383207-G	0.49	2E-8		1.27	[NR]	Illumina [293677]	N
753	chr9	22124476	22124477	rs10757278	17478679	Helgadottir A	2007-05-03	Science	A common variant on chromosome 9p21 affects the risk of myocardial infarction.	Myocardial infarction	1,607 European ancestry cases, 6,728 European ancestry controls	2,980 European ancestry cases, 6,309 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs10757278-G	0.45	1E-20		1.28	[1.22-1.35]	Illumina [305953]	N
753	chr9	22124503	22124504	rs1333047	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Large artery stroke	2,167 cases, 49,159 controls	NA	9p21.3	intergenic	rs1333047-T		2E-7		1.2	[1.11-1.29]	Affymetrix, Illumina [~ 2400000] (imputed)	N
753	chr9	22125346	22125347	rs1333048	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	9p21.3	CDKN2A, CDKN2B	rs1333048-?,rs1333049-?	(GG)	7E-14	(Coronary artery disease)			Affymetrix [407576]	N
753	chr9	22125502	22125503	rs1333049	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	9p21.3	CDKN2BAS	rs1333049-?		1E-59				Affymetrix, Illumina [up to 2500000] (imputed)	N
753	chr9	22125502	22125503	rs1333049	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	9p21.3	CDKN2BAS	rs1333049-?		1E-56				Affymetrix, Illumina [up to 2500000] (imputed)	N
753	chr9	22125502	22125503	rs1333049	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	9p21.3	CDKN2BAS	rs1333049-C	NR	3E-56		1.24	[1.21-1.28]	Illumina [575000] (imputed)	N
753	chr9	22125502	22125503	rs1333049	22144573	O'Donnell CJ	2011-12-05	Circulation	Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.	Coronary artery calcification	9,961 European ancestry individuals	6,032 European ancestry individuals	9p21.3	CDKN2B	rs1333049-C	NR	3E-24		0.199	[0.16-0.24] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
753	chr9	22125502	22125503	rs1333049	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	9p21.3	CDKN2A, CDKN2B	rs1333048-?,rs1333049-?	(GG)	7E-14	(Coronary artery disease)			Affymetrix [407576]	N
753	chr9	22125502	22125503	rs1333049	21606135	Wild PS	2011-05-23	Circ Cardiovasc Genet	A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.	Coronary heart disease	2,078 European ancestry cases, 2,953 European ancestry controls	19,350 European ancestry cases, 35,408 European ancestry controls	9p21.3	intergenic	rs1333049-C	0.49	7E-58		1.27	[1.23-1.31]	Affymetrix [608247]	N
753	chr9	22125502	22125503	rs1333049	17634449	Samani NJ	2007-07-18	N Engl J Med	Genomewide association analysis of coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	875 European ancestry cases, 1,644 European ancestry controls	9p21.3	intergenic	rs1333049-C	0.47	3E-19		1.36	[1.27-1.46]	Affymetrix [377857]	N
753	chr9	22125502	22125503	rs1333049	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	(see Samani 2007)	9p21.3	CDKN2A, CDKN2B	rs1333049-C	0.47	1E-13		1.47	[1.27-1.70]	Affymetrix [469557]	N
753	chr9	22129578	22129579	rs7020996	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs7020996-C	NR	2E-7		1.26	[1.15-1.38]	Affymetrix, Illumina [2202892] (imputed)	N
753	chr9	22132075	22132076	rs2383208	23209189	Tabassum R	2012-12-03	Diabetes	Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.	Type 2 diabetes	1,101 Indo-European ancestry cases, 1,027 Indo-European ancestry controls	3,607 Indo-European ancestry cases, 2,924 Indo-European ancestry controls, 1,184 Dravidian ancestry cases, 1,061 Dravidian ancestry controls, 11,285 European ancestry cases, 11,285 European ancestry controls	9p21.3	CDKN2A	rs2383208-T	0.85	3E-6	(Indo-European South Asians)	1.23	[1.13-1.34]	Illumina [536420]	N
753	chr9	22132075	22132076	rs2383208	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	9p21.3	CDKN2B	rs2383208-A	0.558	3E-17		1.22	[1.17-1.28]	Illumina [2234194] (imputed)	N
753	chr9	22132075	22132076	rs2383208	19401414	Takeuchi F	2009-04-29	Diabetes	Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.	Type 2 diabetes	519 Japanese ancestry cases, 503 Japanese ancestry controls	5,110 Japanese ancestry cases, 6,867 Japanese ancestry controls	9p21.3	CDKN2A, CDKN2B	rs2383208-A	0.55	2E-29		1.34	[1.27-1.41]	Illumina [482625]	N
753	chr9	22133283	22133284	rs10965250	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs10965250-G		1E-10		1.2	[1.13-1.27]	Affymetrix, Illumina [2426886] (imputed)	N
753	chr9	22134093	22134094	rs10811661	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	9p21.3	CDKN2A, CDKN2B	rs10811661-?	NR	9E-12		0.062	[0.044-0.080] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
753	chr9	22134093	22134094	rs10811661	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs10811661-T	0.82	1E-27		1.18	[1.13-1.24]	Affymetrix, Illumina [2500000] (imputed)	N
753	chr9	22134093	22134094	rs10811661	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	9p21.3	CDKN2A, CDKN2B	rs10811661-T	0.55	1E-18		1.23	[1.18-1.29]	Illumina [6209637] (imputed)	N
753	chr9	22134093	22134094	rs10811661	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	9p21.3	CDKN2B	rs10811661-?	NR	7E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
753	chr9	22134093	22134094	rs10811661	19056611	Timpson NJ	2008-12-03	Diabetes	Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.	Type 2 diabetes	958 European ancestry obese cases, 955 European ancestry non-obese cases, 2,938 European ancestry controls	Up to 3,757 European ancestry cases, up to 5,346 European ancestry controls	9p21.3	CDKN2B	rs10811661-?	NR	7E-7	(non-obese)	1.26	[1.15-1.38]	Affymetrix [393453]	N
753	chr9	22134093	22134094	rs10811661	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs10811661-T	0.83	5E-6		1.19	[1.11-1.28]	Affymetrix [393453]	N
753	chr9	22134093	22134094	rs10811661	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs10811661-T	0.85	8E-15	(DGI+FUSION+WTCCC)	1.2	[1.14-1.25]	Illumina [315635]	N
753	chr9	22134093	22134094	rs10811661	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Type 2 diabetes	1,464 European ancestry cases, 1,467 European ancestry controls	5,065 European ancestry cases, 5,785 European ancestry controls	9p21.3	CDKN2A, CDKN2B	rs10811661-T	0.83	5E-8		1.2	[1.12-1.28]	Affymetrix [386731]	N
753	chr9	22136488	22136489	rs1333051	21573907	Parra EJ	2011-05-15	Diabetologia	Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.	Type 2 diabetes	1,804 Hispanic cases, 780 Hispanic controls	European ancestry individuals	9p21.3	CDKN2A, CDKN2B	rs1333051-A	NR	6E-10		1.22	[1.15-1.30]	Affymetrix [315658]	N
753	chr9	22137684	22137685	rs7018475	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	9p21.3	CDKN2B-AS1, DMRTA1	rs7018475-?		5E-6	(AIRg)	1.64	[0.97-2.31] unit decrease	Illumina [693128]	N
753	chr9	22137684	22137685	rs7018475	22293688	Huang J	2012-02-01	Eur J Hum Genet	1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.	Type 2 diabetes	16,179 European ancestry individuals	NA	9p21.3	CDKN2B	rs7018475-?	NR	3E-8		1.35	[1.18-1.56]	NR [6233112] (imputed)	N
754	chr9	22169699	22169700	rs1537377	23104006	Nyholt DR	2012-10-28	Nat Genet	Genome-wide association meta-analysis identifies new endometriosis risk loci.	Endometriosis	3,181 European ancestry cases, 8,075 European ancestry controls, 1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls	1,044 Japanese ancestry, 4,017 Japanese ancestry controls	9p21.3	CDKN2B-ASI, ARF, CDKN2A, CDKN2B	rs1537377-C	0.401	2E-9		1.15	[1.10-1.21]	Illumina [407632]	N
754	chr9	22185251	22185252	rs861189	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	9p21.3	NR	rs861189-?	NR	8E-6		5.954	[3.45-8.46] unit decrease	Illumina [498648]	N
754	chr9	22185251	22185252	rs861189	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	9p21.3	NR	rs861189-?	NR	3E-6		17.16	[10.24-24.08] unit decrease	Illumina [498648]	N
754	chr9	22206986	22206987	rs1679013	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	9p21.3	AS1, CDKN2B	rs1679013-C	0.52	1E-8		1.19	[1.12-1.27]	Illumina [549934]	N
755	chr9	22362103	22362104	rs961831	20691247	Verweij KJ	2010-08-04	Biol Psychol	A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.	Personality dimensions	5,117 European ancestry individuals from 2567 families	NA	9p21.3	intergenic	rs961831-G	0.09	7E-6	(Novelty Seeking)	0.17	[NR] unit decrease	Affymetrix, Illumina [1252387] (imputed)	N
755	chr9	22373456	22373457	rs10738626	25865352	Schaarschmidt H	2015-04-10	J Allergy Clin Immunol	A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.	Atopic dermatitis	870 European ancestry cases, 5,293 European ancestry controls	1,383  European ancestry cases, 1,728 European ancestry controls	9p21.3	DMRTA1	rs10738626-T	0.506	1E-8		1.23	[NR]	Affymetrix [1623390] (imputed)	N
756	chr9	22488677	22488678	rs586716	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	9p21.3	DMRTA1	rs586716-G	0.846	8E-6		4.7619	[NR]	Affymetrix [up to 4467279] (imputed)	N
757	chr9	22670714	22670715	rs613391	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	9p21.3	intergenic	rs613391-G	0.49	5E-6	(WC)	0.2	[NR] inch increase	Affymetrix [408775]	N
758	chr9	22759395	22759396	rs9695226	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p21.3	NR	rs9695226-G	NR	4E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
758	chr9	22770885	22770886	rs10811771	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	9p21.3	intergenic	rs10811771-?	NR	8E-7	(SAS)			Affymetrix [492000]	N
759	chr9	22819575	22819576	rs7849973	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	9p21.3	intergenic	rs7849973-?	NR	8E-6	(5 degree of freedom test)	1.05	[1.02-1.08]	NR [1252901] (imputed)	N
759	chr9	22842201	22842202	rs12554707	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	9p21.3	intergenic	rs12554707-?	NR	2E-6	(SF5)			Affymetrix [5476100] (imputed)	N
760	chr9	22972836	22972837	rs7020651	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	9p21.3	NR	rs7020651-A	NR	8E-6		0.38	[0.22-0.54] unit increase	NR [5896100] (imputed)	N
760	chr9	23035986	23035987	rs12375901	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9p21.3	NR	rs12375901-?	NR	2E-7		0.5435	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
763	chr9	23379718	23379719	rs1360382	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	9p21.3	intergenic	rs1360382-A	0.042	3E-7		0.024	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
763	chr9	23426270	23426271	rs12000445	22872573	Hu L	2012-08-07	Clin Cancer Res	Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.	Response to platinum-based chemotherapy in non-small-cell lung cancer	528 Han Chinese ancestry cases	340 Han Chinese ancestry cases, 409 European ancestry cases	9p21.3	HuB	rs12000445-A	NR	7E-6	(Han Chinese)	1.49	[1.25-1.75]	NR [576351]	N
764	chr9	23576499	23576500	rs79258494	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p21.3	NR	rs79258494-A	NR	7E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
768	chr9	24092071	24092072	rs4246856	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	9p21.3	intergenic	rs4246856-C	0.201	6E-6		0.0333	[NR] % increase	Affymetrix, Illumina [2522393] (imputed)	N
768	chr9	24111279	24111280	rs2225614	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	9p21.3	intergenic	rs2225614-C	0.50	3E-6	(weight)	0.21	[NR] lb. decrease	Affymetrix [408775]	N
771	chr9	24431791	24431792	rs118043898	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9p21.3	NR	rs118043898-?	NR	5E-8	(Latino)	1.6762	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
772	chr9	24560576	24560577	rs2805062	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9p21.3	NR	rs2805062-?	NR	1E-10	(Latino)	1.3293	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
773	chr9	24720231	24720232	rs10491833	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	9p21.3	NR	rs10491833-C	0.258	4E-6		0.111	[0.064-0.158] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
777	chr9	25192572	25192573	rs181881383	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	9p21.3	NR	rs181881383-?	NR	2E-8				Affymetrix [5486770] (imputed)	N
777	chr9	25233483	25233484	rs10966811	22633400	Kosova G	2012-05-23	Am J Hum Genet	Genome-wide association study identifies candidate genes for male fertility traits in humans.	Male fertility	269 Hutterite males	NA	9p21.3	TUSC1	rs10966811-T	0.27	6E-6	(Family size, recessive model)			Affymetrix [248210]	N
778	chr9	25414050	25414051	rs7021404	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	9p21.3	TUSC1	rs7021404-C		8E-6		0.11	[0.06-0.15] unit decrease	Affymetrix [~ 2500000] (imputed)	N
779	chr9	25449121	25449122	rs12552736	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	9p21.3	intergenic	rs12552736-G	0.06	2E-6		0.25	[0.15-0.35] unit increase	Illumina [~ 318327]	N
779	chr9	25452811	25452812	rs13300284	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	9p21.3	intergenic	rs13300284-A	0.04	4E-6		0.26	[0.14-0.38] unit increase	Illumina [~ 318327]	N
779	chr9	25501296	25501297	rs2210430	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep quality	2,315 European ancestry individuals	NA	9p21.3	TUSC1	rs2210430-T	0.01	9E-6		0.65	[0.36-0.94] unit increase	Illumina [2380486] (imputed)	N
779	chr9	25551356	25551357	rs17774966	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Entorhinal cortical thickness (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	9p21.3	TUSC1	rs17774966-?	NR	8E-6		0.153	[NR] unit increase	Illumina [478011]	N
780	chr9	25659636	25659637	rs10124907	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	9p21.2	TUSC1	rs10124907-?	NR	6E-7	(Latino)	1.43	[1.19-1.75]	Affymetrix, Illumina [NR] (imputed)	N
781	chr9	25804284	25804285	rs1782032	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	9p21.2	TUSC1	rs1782032-G	0.544	9E-9		0.031	[0.020-0.042] unit decrease	Illumina [7428049] (imputed)	N
783	chr9	26064684	26064685	rs75078187	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	9p21.2	LOC100506422	rs75078187-?	0.01	2E-7		8.1	[NR]	Affymetrix [4893794] (imputed)	N
784	chr9	26208856	26208857	rs4978053	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	9p21.2	TUSC1	rs4978053-C	0.06	6E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
786	chr9	26469904	26469905	rs62544064	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	9p21.2	intergenic	rs62544064-?		8E-6	(PC2)	0.1867	[NR] unit increase	Illumina [4167292] (imputed)	N
788	chr9	26614846	26614847	rs10812428	19483685	Daly AK	2009-05-31	Nat Genet	HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.	Drug-induced liver injury (flucloxacillin)	58 European ancestry cases, 282 European ancestry controls	NA	9p21.2	C9org82	rs10812428-?	0.31	1E-6		2.85	[NR]	Illumina [866399]	N
788	chr9	26694887	26694888	rs13294589	22318345	Cha PC	2012-02-09	J Hum Genet	A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.	Gallbladder cancer	41 Japanese ancestry cases, 866 Japanese ancestry controls	30 Japanese ancestry cases, 898 Japanese ancestry controls	9p21.2	NR	rs13294589-G	0.11	2E-6		12.78	[4.43-36.83]	Illumina [425706] (imputed)	N
788	chr9	26725701	26725702	rs10511779	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	9p21.2	CAAP1	rs10511779-T	0.144	6E-6	(HRTSE)	1.1	[0.63-1.57] unit increase	Illumina [799713]	N
788	chr9	26737655	26737656	rs10967505	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p21.2	NR	rs10967505-A	NR	4E-7		1.09	[NR]	Illumina [7158791] (imputed)	N
789	chr9	26789939	26789940	rs1889899	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	9p21.2	intergenic	rs1889899-?	0.37	6E-6	(EVNV)	1.26	[NR]	Illumina [~ 518000]	N
790	chr9	26895807	26895808	rs10967586	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p21.2	NR	rs10967586-G	NR	5E-7		1.0869565	[NR]	Illumina [7158791] (imputed)	N
790	chr9	26935995	26935996	rs7045881	20185149	Athanasiu L	2010-02-23	J Psychiatr Res	Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.	Schizophrenia	201 European ancestry cases, 305 European ancestry controls	2,663 European ancestry cases, 13,780 European ancestry controls	9p21.2	PLAA	rs7045881-?	NR	2E-6		1.16	[NR]	Affymetrix [572888]	N
791	chr9	27075714	27075715	rs1577330	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.2	NR	rs1577330-G	0.245380581810076	4E-6	(IGP61)	0.1746	[0.1-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
791	chr9	27126414	27126415	rs1334809	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.2	NR	rs1334809-G	0.884652631578947	8E-6	(IGP2)	0.2206	[0.12-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
792	chr9	27135717	27135718	rs62544595	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p21.2	NR	rs62544595-G	NR	6E-6		1.1235955	[NR]	Illumina [7158791] (imputed)	N
792	chr9	27152307	27152308	rs664461	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	9p21.2	NR	rs664461-T	0.5749	2E-6	(Trans-16:1n-7, EA)	0.0024	[0.0014-0.0034] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
792	chr9	27152723	27152724	rs538679	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	9p21.2	NR	rs538679-A	0.4244	2E-6	(Trans-16:1n-7, EA)	0.0024	[0.0014-0.0034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
792	chr9	27209468	27209469	rs2273720	25552591	Lieb W	2014-12-31	Circ Cardiovasc Genet	Genome-Wide Association Study for Endothelial Growth Factors.	Endothelial growth factor levels	up to 3,574 European ancestry individuals	up to 3,184 European ancestry individuals	9p21.2	Tie-2	rs2273720-C	0.056	2E-65	(sTie-2)	0.265	[0.23-0.30] unit increase	Affymetrix [~ 2500000] (imputed)	N
793	chr9	27309658	27309659	rs10967875	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p21.2	C9orf11	rs10967875-G	0.275	6E-6	(SBP )	0.03	[NR] mmHg increase	Illumina [899892]	N
794	chr9	27488091	27488092	rs17779457	23376709	Kerns SL	2013-01-31	J Urol	A 2-stage genome-wide association study to identify single nucleotide polymorphisms associated with development of urinary symptoms after radiotherapy for prostate cancer.	Urinary symptoms in response to radiotherapy in prostate cancer	346 European, African, Hispanic and Asian ancestry individuals	377 European, African, Hispanic and Asian ancestry individuals	9p21.2	IFNK, MOB3B	rs17779457-?	0.25	7E-7	(at 2-3 yrs)	2.4	[1.1-3.6] unit increase	Affymetrix [613496]	N
794	chr9	27490966	27490967	rs7046653	18615156	Liu C	2008-07-10	Mol Med	Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.	Response to TNF antagonist treatment	89 European ancestry cases	NA	9p21.2	IFNK	rs7046653-A	0.26	5E-7				Illumina [283348]	N
795	chr9	27533983	27533984	rs10812610	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	9p21.2	MOBKL2B	rs10812610-?	0.50	5E-6	(EA)	1.14	[0.99-1.31]	Affymetrix, Illumina [2478304] (imputed)	N
795	chr9	27536396	27536397	rs2814707	19734901	van Es MA	2009-09-06	Nat Genet	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	2,323 European ancestry cases, 9,013 European ancestry controls	2,532 European ancestry cases, 5,940 European ancestry controls	9p21.2	IFNK, MOBKL2B, C9orf72	rs2814707-?	0.23	7E-9		1.22	[NR]	Illumina [292768]	N
795	chr9	27543280	27543281	rs3849942	24256812	Fogh I	2013-11-20	Hum Mol Genet	A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis (sporadic)	6,100 European ancestry cases, 7,125 European ancestry controls	2,074 European ancestry cases, 2,556 European ancestry controls	9p21.2	intergenic	rs3849942-?	0.237	1E-8				Illumina [~ 7000000] (imputed)	N
795	chr9	27543280	27543281	rs3849942	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	9p21.2	C9orf72	rs3849942-A	0.23	4E-7	(Joint)	1.21	[1.11-1.33]	Illumina [254145]	N
795	chr9	27543280	27543281	rs3849942	20801718	Laaksovirta H	2010-08-27	Lancet Neurol	Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.	Amyotrophic lateral sclerosis	405 European ancestry cases, 497 European ancestry controls	NA	9p21.2	IFNK, MOBKL2B, C9orf72	rs3849942-A	0.16	9E-11		2.16	[1.72-2.70]	Illumina [318167]	N
795	chr9	27543280	27543281	rs3849942	20801717	Shatunov A	2010-10-01	Lancet Neurol	Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.	Amyotrophic lateral sclerosis	4,857 European ancestry cases, 8,987 European ancestry controls	NA	9p21.2	intergenic	rs3849942-?,rs10122902-?	0.57 (GG)	5E-11				Illumina [227475]	N
795	chr9	27543280	27543281	rs3849942	20801717	Shatunov A	2010-10-01	Lancet Neurol	Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.	Amyotrophic lateral sclerosis	4,857 European ancestry cases, 8,987 European ancestry controls	NA	9p21.2	intergenic	rs3849942-?,rs10122902-?	0.23 (AG)	8E-10				Illumina [227475]	N
795	chr9	27543280	27543281	rs3849942	19734901	van Es MA	2009-09-06	Nat Genet	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	2,323 European ancestry cases, 9,013 European ancestry controls	2,532 European ancestry cases, 5,940 European ancestry controls	9p21.2	IFNK, MOBKL2B, C9orf72	rs3849942-?	0.23	1E-8		1.23	[NR]	Illumina [292768]	N
795	chr9	27543381	27543382	rs3849943	24931836	Diekstra FP	2014-06-27	Ann Neurol	C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.	Amyotrophic lateral sclerosis	4,377 European ancestry cases, 13,017 European ancestry controls	NA	9p21.2	C9orf72	rs3849943-C	0.24	6E-10		1.22	[NR]	Illumina [~ 1400000] (imputed)	N
795	chr9	27556779	27556780	rs10122902	20801717	Shatunov A	2010-10-01	Lancet Neurol	Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.	Amyotrophic lateral sclerosis	4,857 European ancestry cases, 8,987 European ancestry controls	NA	9p21.2	intergenic	rs3849942-?,rs10122902-?	0.57 (GG)	5E-11				Illumina [227475]	N
795	chr9	27556779	27556780	rs10122902	20801717	Shatunov A	2010-10-01	Lancet Neurol	Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.	Amyotrophic lateral sclerosis	4,857 European ancestry cases, 8,987 European ancestry controls	NA	9p21.2	intergenic	rs3849942-?,rs10122902-?	0.23 (AG)	8E-10				Illumina [227475]	N
795	chr9	27561048	27561049	rs774359	19734901	van Es MA	2009-09-06	Nat Genet	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	2,323 European ancestry cases, 9,013 European ancestry controls	2,532 European ancestry cases, 5,940 European ancestry controls	9p21.2	NR	rs774359-?	0.25	3E-6		1.19	[NR]	Illumina [292768]	N
795	chr9	27610656	27610657	rs2889829	23555189	Chen Z	2013-04-01	Neoplasia	Genome-wide association study identifies genetic determinants of urine PCA3 levels in men.	PCA3 expression level	1,371 European ancestry individuals	NA	9p21.2	C9orf72	rs2889829-G	0.64	2E-7		0.82	[0.75-0.89] unit increase	Illumina [3076666] (imputed)	N
795	chr9	27630561	27630562	rs12555345	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	9p21.2	LOC392298	rs12555345-?	NR	5E-6		0.004	[NR] unit decrease	Illumina [478011]	N
797	chr9	27882652	27882653	rs7029145	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	9p21.2	IFNK, LINGO2	rs7029145-A	0.466	9E-6		1.29	[1.15-1.46]	Illumina [2057134] (imputed)	N
798	chr9	28024193	28024194	rs72724928	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9p21.1	NR	rs72724928-?	NR	9E-7	(AA)	1.5217	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
800	chr9	28181084	28181085	rs1319535	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs1319535-C	0.34574886090058	4E-6	(IGP30)	0.1509	[0.087-0.215] unit increase	Illumina [~ 2500000] (imputed)	N
800	chr9	28181084	28181085	rs1319535	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs1319535-C	0.345300509585377	9E-6	(IGP34)	0.1458	[0.081-0.21] unit decrease	Illumina [~ 2500000] (imputed)	N
801	chr9	28359781	28359782	rs16912725	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p21.1	LINGO2	rs16912725-A	0.0040	2E-6	(IGF1 free )	0.04	[NR] ng/mL increase	Illumina [899892]	N
801	chr9	28402042	28402043	rs10968562	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p21.1	LINGO2	rs10968562-G	0.302	7E-6	(BMI z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
801	chr9	28414338	28414339	rs10968576	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p21.1	LINGO2	rs10968576-G	0.32	7E-14	(EA)	0.025	[0.018-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
801	chr9	28414338	28414339	rs10968576	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p21.1	LINGO2	rs10968576-G	0.32	5E-6	(EA, men)	0.02	[0.011-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
801	chr9	28414338	28414339	rs10968576	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p21.1	LINGO2	rs10968576-G	0.319	1E-11	(EA, women)	0.029	[0.02-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
801	chr9	28414338	28414339	rs10968576	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p21.1	LINGO2	rs10968576-G	0.315	2E-14		0.025	[0.018-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
801	chr9	28414338	28414339	rs10968576	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	9p21.1	LINGO2	rs10968576-G	0.32	3E-8	(Obesity class I)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
801	chr9	28414338	28414339	rs10968576	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	9p21.1	LRRN6C	rs10968576-G	0.31	3E-13		0.11	[0.07-0.15] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
801	chr9	28425514	28425515	rs1412239	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	9p21.1	LINGO2	rs1412239-G	0.32	2E-10	(Obesity class II)	1.11	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
803	chr9	28587993	28587994	rs2891316	24096698	De Vivo I	2013-10-06	Hum Genet	Genome-wide association study of endometrial cancer in E2C2.	Endometrial cancer	up to 2,695 European ancestry cases, up to 2,777 European ancestry controls	up to 3,235 cases, up to 12,059 controls	9p21.1	LINGO2	rs2891316-?	NR	9E-6	(European, All type I)			Illumina [873935]	N
803	chr9	28600141	28600142	rs12348435	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	9p21.1	NR	rs12348435-C	0.04	2E-6		1.59	[1.39-1.79]	Illumina [4058415] (imputed)	N
804	chr9	28752483	28752484	rs10968749	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio)	Up to 290 European ancestry cases	NA	9p21.1	LINGO2	rs10968749-G	NR	2E-7		0.8345	[NR] unit decrease	Affymetrix [686595]	N
804	chr9	28772699	28772700	rs824248	24390345	Williams AL	2013-12-25	Nature	Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.	Type 2 diabetes	3,848 Mexican and other Latin American ancestry cases, 4,366 Mexican and other Latin American ancestry controls	896 Mexican American cases, 832 Mexican American controls, 2,768 East Asian ancestry cases, 2,880 East Asian ancestry controls, 1,082 South Asian ancestry cases, 1,105 South Asian ancestry controls, 1,874 European ancestry cases, 1,333 European ancestry controls, 2,127 African American cases, 2,103 African American controls, 698 Native Hawaiian ancestry cases, 579 Native Hawaiian ancestry controls, 2,009 Singaporean ancestry cases, 1959 Singaporean ancestry controls	9p21.1	LINGO2	rs824248-T	NR	8E-6		1.18	[1.10-1.26]	Illumina [9200000] (imputed)	N
805	chr9	28891816	28891817	rs10812882	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	9p21.1	LINGO2, MIR873	rs10812882-T	NR	1E-6		1.3	[NR]	Illumina [up to 9792010] (imputed)	N
807	chr9	29161217	29161218	rs10123671	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	9p21.1	NR	rs10123671-G	NR	8E-6		1.3513513	[NR]	Illumina [up to 9792010] (imputed)	N
809	chr9	29363264	29363265	rs2150864	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	9p21.1	LINGO2	rs2150864-G	0.348	6E-15		0.042	[0.032-0.053] unit increase	Illumina [7428049] (imputed)	N
810	chr9	29536617	29536618	rs640850	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	9p21.1	intergenic	rs640850-G	0.2469	6E-7	(O'Connor Slope)	0.039	[NR] unit increase	Illumina [546355]	N
810	chr9	29545874	29545875	rs13290799	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p21.1	LINGO2	rs13290799-A	0.129	4E-6	(Diet fat )	0.03	[NR] %energy increase	Illumina [899892]	N
810	chr9	29568685	29568686	rs10491678	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	9p21.1	intergenic	rs10491678-C	0.362	5E-9	(Continous PC20)	0.052	[NR] unit increase	Illumina [546355]	N
811	chr9	29632141	29632142	rs601162	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	9p21.1	intergenic	rs601162-A	NR	1E-6	(Recessive)	3.11	[1.99-4.88]	Affymetrix, Illumina [1621689] (imputed)	N
812	chr9	29783988	29783989	rs10969375	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p21.1	LOC401497, LINGO2	rs10969375-G	0.14	6E-6	(HDL )	0.02	[NR] mg/dL increase	Illumina [899892]	N
819	chr9	30751219	30751220	rs10969853	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	9p21.1	NR	rs10969853-T	0.94	5E-6		1.61	[1.41-1.81]	Illumina [4058415] (imputed)	N
820	chr9	30879674	30879675	rs10813374	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	9p21.1	LOC100288436, ACO1	rs10813374-?		3E-8	(IFN gamma response)			Illumina [NR]	N
824	chr9	31372582	31372583	rs10970305	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	9p21.1	ACO1	rs10970305-C	0.505	1E-27		0.057	[0.047-0.068] unit decrease	Illumina [7428049] (imputed)	N
824	chr9	31394024	31394025	rs7857709	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Lobe size	4,919 Latin American individuals	NA	9p21.1	NR	rs7857709-?	NR	8E-7	(FDR adjusted)			Illumina [671038]	N
824	chr9	31419914	31419915	rs10435736	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	9p21.1	LOC138412	rs10435736-C		4E-7		0.05	[0.03-0.07] unit increase	Affymetrix [~ 2500000] (imputed)	N
824	chr9	31450665	31450666	rs148359873	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	9p21.1	NR	rs148359873-T	0.03	1E-6		0.361	[0.21-0.51] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
824	chr9	31450665	31450666	rs148359873	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	9p21.1	NR	rs148359873-T	0.03	5E-6		0.342	[0.2-0.49] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
825	chr9	31479004	31479005	rs12345625	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	9p21.1	NR	rs12345625-T	0.03	7E-6		2.72	[1.76-4.20]	Illumina [7261187] (imputed)	N
825	chr9	31546471	31546472	rs4576506	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	9p21.1	RP11-291J9.2	rs4576506-?	0.06	1E-6		1.66	[NR]	Illumina [1847262] (imputed)	N
832	chr9	32422689	32422690	rs7032871	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs7032871-T	0.278857772929653	5E-6	(IGP27)	0.1579	[0.09-0.226] unit increase	Illumina [~ 2500000] (imputed)	N
832	chr9	32432973	32432974	rs4878497	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	9p21.1	ACO1	rs4878497-?	NR	4E-9	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
832	chr9	32433525	32433526	rs10970976	22561531	Wan YI	2012-05-05	Thorax	Genome-wide association study to identify genetic determinants of severe asthma.	Asthma	933 European ancestry cases, 3,346 European ancestry controls	231 European ancestry cases, 1,345 European ancestry controls	9p21.1	ACO1	rs10970976-?	NR	4E-6		1.28	[1.16-1.43]	Illumina [6103628] (imputed)	N
833	chr9	32523736	32523737	rs11795343	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	9p21.1	DDX58	rs11795343-T	0.585	4E-7		1.15	[1.09-1.22]	Illumina [up to 4778154] (imputed)	N
833	chr9	32523736	32523737	rs11795343	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	9p21.1	DDX58	rs11795343-T	NR	6E-9		1.19	[1.155-1.226]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
833	chr9	32523736	32523737	rs11795343	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	9p21.1	DDX58	rs11795343-?	NR	4E-12	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
833	chr9	32556379	32556380	rs17290760	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune response to smallpox vaccine (IL-6)	Up to 512 European ancestry individuals, 199 African American individuals	NA	9p21.1	NDUFB6, TOPORS	rs17290760-G		1E-7	(AA)			Illumina [NR]	N
834	chr9	32755027	32755028	rs10758161	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	9p21.1	TAF1L, TMEM215	rs10758161-G	NR	8E-6		0.159	[0.088-0.230] unit decrease	Affymetrix [736996]	N
835	chr9	32867480	32867481	rs4463516	25710658	Diouf B	2015-02-24	JAMA	Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia.	Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia	53 European ancestry cases with peripheral neuropathy, 156 cases without peripheral neuropathy, 10 African ancestry cases with peripheral neuropathy, 33 African ancestry cases without peripheral neuropathy, 1 Asian ancestry case with peripheral neuropathy, 1 Asian ancestry case without peripheral neuropathy, 14 Hispanic cases with peripheral neuropathy, 30 Hispanic cases without peripheral neuropathy, 8 cases with peripheral neuropathy, 15 cases without peripheral neuropathy	NA	9p21.1	TMEM215	rs4463516-?	NR	3E-8		2.89	[1.90-4.39]	Affymetrix [1576016] (imputed)	N
835	chr9	32870067	32870068	rs10971170	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10971170-G	0.969529949122017	9E-6	(IGP16)	0.4143	[0.23-0.6] unit increase	Illumina [~ 2500000] (imputed)	N
836	chr9	32914588	32914589	rs12377462	22367966	Lin X	2012-02-24	Hum Mol Genet	Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.	Vitamin B12 levels	1,999 Han Chinese ancestry individuals	1,496 Chinese ancestry individuals	9p21.1	intergenic	rs12377462-?	NR	2E-6		28.53	[16.79-40.27] pg/ml increase	Illumina [1940245] (imputed)	N
837	chr9	33122644	33122645	rs10113903	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10113903-C	0.308537513851653	7E-6	(IGP74)	0.1529	[0.086-0.22] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33124871	33124872	rs12342831	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	B4GALT1	rs12342831-C	0.262634642316258	3E-10	(IGP24)	0.2233	[0.15-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
837	chr9	33124871	33124872	rs12342831	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	B4GALT1	rs12342831-C	0.262623398308856	3E-11	(IGP17)	0.2366	[0.17-0.31] unit decrease	Illumina [~ 2500000] (imputed)	N
837	chr9	33124871	33124872	rs12342831	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	B4GALT1	rs12342831-C	0.2625544125	1E-10	(IGP36)	0.2299	[0.16-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33124871	33124872	rs12342831	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	B4GALT1	rs12342831-C	0.262517807212823	5E-7	(IGP3)	0.1777	[0.11-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33124871	33124872	rs12342831	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	B4GALT1	rs12342831-C	0.262517754229742	3E-11	(IGP26)	0.2358	[0.17-0.31] unit decrease	Illumina [~ 2500000] (imputed)	N
837	chr9	33124871	33124872	rs12342831	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	1,848 European ancestry individuals	NA	9p21.1	B4GALT1	rs12342831-T	0.73755	5E-8	(IgG1G2)	0.0496	[0.032-0.068] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33125803	33125804	rs10758189	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10758189-C	0.31099528984862	2E-6	(IGP22)	0.1679	[0.099-0.236] unit decrease	Illumina [~ 2500000] (imputed)	N
837	chr9	33128020	33128021	rs10813951	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10813951-G	0.262989649130629	7E-8	(IGP69)	0.1926	[0.12-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33128020	33128021	rs10813951	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10813951-G	0.262766006241641	4E-7	(IGP75)	0.1812	[0.11-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33128020	33128021	rs10813951	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10813951-G	0.262743396083667	5E-10	(IGP40)	0.2193	[0.15-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33128020	33128021	rs10813951	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10813951-G	0.262743396083667	3E-6	(IGP76)	0.1669	[0.097-0.237] unit decrease	Illumina [~ 2500000] (imputed)	N
837	chr9	33128020	33128021	rs10813951	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10813951-G	0.262554376171352	1E-9	(IGP39)	0.2169	[0.15-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33139452	33139453	rs3780486	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs3780486-C	0.737450810521623	5E-11	(IGP38)	0.2341	[0.16-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
837	chr9	33139452	33139453	rs3780486	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs3780486-C	0.737437251227131	9E-11	(IGP37)	0.2309	[0.16-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
837	chr9	33139452	33139453	rs3780486	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs3780486-C	0.737357337934105	1E-6	(IGP31)	0.1725	[0.1-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
837	chr9	33153526	33153527	rs10813957	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10813957-G	0.738414638629283	7E-6	(IGP43)	0.1601	[0.09-0.23] unit decrease	Illumina [~ 2500000] (imputed)	N
837	chr9	33153526	33153527	rs10813957	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10813957-G	0.738414638629283	5E-8	(IGP13)	0.196	[0.13-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33153526	33153527	rs10813957	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10813957-G	0.738414638629283	3E-9	(IGP57)	0.2125	[0.14-0.28] unit increase	Illumina [~ 2500000] (imputed)	N
837	chr9	33153526	33153527	rs10813957	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p21.1	NR	rs10813957-G	0.738414638629283	2E-9	(IGP53)	0.2163	[0.15-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
838	chr9	33180361	33180362	rs10813960	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	9p21.1	B4GALT1	rs10813960-T	0.29	4E-7		0.03	[0.018-0.042] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
838	chr9	33217265	33217266	rs830407	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	9p13.3	NR	rs830407-?	NR	8E-6		1.3581	[NR]	Affymetrix [722112]	N
838	chr9	33283581	33283582	rs12336160	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	9p13.3	CHMP5	rs12336160-?	0.09	1E-6		7.26	[NR]	Affymetrix [512497]	N
842	chr9	33799369	33799370	rs216345	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	9p13.3	NR	rs216345-T	0.37	4E-6		1.15	[NR]	Affymetrix [1769948] (imputed)	N
843	chr9	33827693	33827694	rs10971721	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9p13.3	UBE2R2	rs10971721-C	0.87	8E-6		0.026	[0.014-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
844	chr9	33995445	33995446	rs180850064	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9p13.3	NR	rs180850064-?	NR	1E-6	(Native Hawaiian)	1.3692	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
844	chr9	34071540	34071541	rs7871764	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	9p13.3	WDR40A	rs7871764-?	0.44	2E-6		0.06	[0.03-0.09] s.d. increase	Illumina [229216]	N
849	chr9	34710259	34710260	rs2812378	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	9p13.3	CCL21	rs2812378-G	0.34	3E-8		1.12	[NR]	Affymetrix, Illumina [at least 315971] (imputed)	N
849	chr9	34710337	34710338	rs11574914	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	9p13.3	CCL19, CCL21	rs11574914-A	0.33	2E-15	(EA)	1.13	[1.09-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
849	chr9	34710337	34710338	rs11574914	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	9p13.3	CCL19, CCL21	rs11574914-A	0.26	3E-15		1.12	[1.09-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
850	chr9	34743680	34743681	rs951005	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	9p13.3	CCL21	rs951005-A	0.84	4E-10		1.19	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
853	chr9	35141704	35141705	rs10972341	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Weight	Up to 3,925 European individuals	NA	9p13.3	NR	rs10972341-G	0.60	9E-6	(males)	2.32	[NR] kg increase	Illumina [318237]	N
854	chr9	35269818	35269819	rs10121009	21812969	Liu X	2011-08-03	BMC Med Genet	Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population.	Parkinson's disease	268 Ashkenazi Jewish cases, 178 Ashkenazi Jewish controls	1,782 European ancestry cases, 1,658 European ancestry controls	9p13.3	UNC13B	rs10121009-A	0.21	3E-6				Illumina [525124]	N
855	chr9	35507289	35507290	rs10814247	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	9p13.3	RUSC2	rs10814247-G	0.385	4E-6		1.08	[1.05-1.12]	Illumina [up to 4778154] (imputed)	N
855	chr9	35518996	35518997	rs4879901	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p13.3	NR	rs4879901-C	NR	8E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
856	chr9	35610911	35610912	rs4879913	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	9p13.3	CD72	rs4879913-?	NR	2E-6	(Alpha power, Cz)	0.103	[0.06-0.146] unit decrease	Illumina [527829]	N
856	chr9	35648949	35648950	rs3138083	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)	218 Japanese ancestry cases, 364 Japanese controls	NA	9p13.3	SIT1	rs3138083-A	0.117	4E-6	(Allelic model)	2.136	[1.551-2.942]	Illumina [733202]	N
857	chr9	35700836	35700837	rs4879926	23967269	Kim JH	2013-08-13	PLoS One	A genome-wide association study of total serum and mite-specific IgEs in asthma patients.	IgE levels in asthmatics	877 Korean ancestry cases	NA	9p13.3	TLN1	rs4879926-?		8E-6				Illumina [442089]	N
857	chr9	35758577	35758578	rs10814275	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (non-dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	9p13.3	intergenic	rs10814275-A	0.95	6E-7				Affymetrix, Illumina [~ 2500000] (imputed)	N
859	chr9	35927976	35927977	rs7033996	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	28,610 European ancestry individuals	13,959 European ancestry individuals	9p13.3	LOC158376, OR2S2	rs7033996-C	0.11	2E-6	(Combined gender)	0.012	[0.0061-0.0179] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
860	chr9	36099398	36099399	rs4878639	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p13.3	RECK	rs4878639-C	0.263725273253227	6E-7	(IGP53)	0.1779	[0.11-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
860	chr9	36099398	36099399	rs4878639	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p13.3	RECK	rs4878639-C	0.263725273253227	6E-6	(IGP13)	0.1615	[0.092-0.231] unit decrease	Illumina [~ 2500000] (imputed)	N
860	chr9	36099398	36099399	rs4878639	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p13.3	RECK	rs4878639-C	0.263725273253227	4E-8	(IGP17)	0.1959	[0.13-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
860	chr9	36099398	36099399	rs4878639	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9p13.3	RECK	rs4878639-C	0.263725273253227	1E-6	(IGP57)	0.1734	[0.1-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
861	chr9	36194568	36194569	rs3736986	25781172	Avramopoulos D	2015-03-17	PLoS One	Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.	Bipolar disorder (inflammation and infection response interaction)	397 Ashkenazi Jewish bipolar disorder cases, 241  Ashkenazi Jewish controls	NA	9p13.3	CLTA, GNE, RNF38, GLIPR2, RECK	rs3736986-?		6E-6	(anti-HSV1)			Affymetrix [516638]	N
862	chr9	36308826	36308827	rs10124101	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p13.2	NR	rs10124101-G	NR	1E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
867	chr9	36969204	36969205	rs16933812	22013104	Melka MG	2011-10-19	J Clin Endocrinol Metab	Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.	Obesity-related traits	598 French Canadian founder adolescent individuals	NA	9p13.2	PAX5	rs16933812-?		9E-9	(TFM)			Illumina [530011]	N
867	chr9	36969204	36969205	rs16933812	22013104	Melka MG	2011-10-19	J Clin Endocrinol Metab	Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.	Obesity-related traits	598 French Canadian founder adolescent individuals	NA	9p13.2	PAX5	rs16933812-?		5E-6	(BMI)			Illumina [530011]	N
867	chr9	36997416	36997417	rs3758171	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	9p13.2	PAX5	rs3758171-?,rs1329573-?,rs3824344-?,rs7020413-?	NR	4E-8	(Neurodevelopment)			Illumina [795637]	N
867	chr9	36998992	36998993	rs1329573	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	9p13.2	PAX5	rs3758171-?,rs1329573-?,rs3824344-?,rs7020413-?	NR	4E-8	(Neurodevelopment)			Illumina [795637]	N
867	chr9	37000686	37000687	rs3824344	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	9p13.2	PAX5	rs3758171-?,rs1329573-?,rs3824344-?,rs7020413-?	NR	4E-8	(Neurodevelopment)			Illumina [795637]	N
867	chr9	37002114	37002115	rs7020413	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	9p13.2	PAX5	rs3758171-?,rs1329573-?,rs3824344-?,rs7020413-?	NR	4E-8	(Neurodevelopment)			Illumina [795637]	N
867	chr9	37037975	37037976	rs1329568	25786224	Johnson EO	2015-03-18	PLoS One	Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.	HIV-1 susceptibility	628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls	1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls	9p13.2	FRMPD1	rs4878712-A,rs1329568-T		7E-7	(AA)	1.64	[1.32-2.00]	Illumina [~ 8000000] (imputed)	N
867	chr9	37037975	37037976	rs1329568	25786224	Johnson EO	2015-03-18	PLoS One	Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.	HIV-1 susceptibility	628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls	1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls	9p13.2	FRMPD1	rs4878712-A,rs1329568-T		5E-8				Illumina [~ 8000000] (imputed)	N
867	chr9	37037975	37037976	rs1329568	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	9p13.2	intergenic	rs1329568-?	0.029	8E-7	(CSJC, RF-)	19.64	[NR] unit increase	Illumina [534053]	N
867	chr9	37085183	37085184	rs7020830	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9p13.2	NR	rs7020830-T	NR	8E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
872	chr9	37654256	37654257	rs4878712	25786224	Johnson EO	2015-03-18	PLoS One	Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.	HIV-1 susceptibility	628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls	1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls	9p13.2	FRMPD1, PAX5, ZCCHC7, FBXO10	rs4878712-A	0.69	5E-7	(AA)	1.32	[1.14-1.54]	Illumina [~ 8000000] (imputed)	N
872	chr9	37654256	37654257	rs4878712	25786224	Johnson EO	2015-03-18	PLoS One	Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.	HIV-1 susceptibility	628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls	1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls	9p13.2	FRMPD1, PAX5, ZCCHC7, FBXO10	rs4878712-?		4E-7				Illumina [~ 8000000] (imputed)	N
872	chr9	37654256	37654257	rs4878712	25786224	Johnson EO	2015-03-18	PLoS One	Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.	HIV-1 susceptibility	628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls	1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls	9p13.2	FRMPD1	rs4878712-A,rs1329568-T		7E-7	(AA)	1.64	[1.32-2.00]	Illumina [~ 8000000] (imputed)	N
872	chr9	37654256	37654257	rs4878712	25786224	Johnson EO	2015-03-18	PLoS One	Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.	HIV-1 susceptibility	628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls	1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls	9p13.2	FRMPD1	rs4878712-A,rs1329568-T		5E-8				Illumina [~ 8000000] (imputed)	N
874	chr9	37916407	37916408	rs3747547	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	9p13.1	SHB	rs3747547-C		5E-6		0.09	[0.05-0.13] unit decrease	Affymetrix [~ 2500000] (imputed)	N
875	chr9	38041141	38041142	rs7873102	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	9p13.1	SHB	rs7873102-?	0.38	6E-7				Illumina [448293]	N
878	chr9	38456364	38456365	rs1110183	22384028	Guo Y	2012-02-24	PLoS One	A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits.	Hypertension	315 Hong Kong Chinese ancestry individuals from 111 families	NA	9p13.1	NR	rs1110183-G	0.46	8E-6				Illumina [503984]	N
879	chr9	38645054	38645055	rs10973956	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	9p13.1	U6, FAM201A, DQ596352, DQ590589, DQ587539, DQ573539, ANKRD18A	rs10973956-A	0.16	7E-6		1.23	[NR]	Illumina [7659573] (imputed)	N
880	chr9	38675464	38675465	rs7039377	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9p13.1	LOC647051	rs7039377-A	0.496	2E-6	(Total glutathione )	0.03	[NR] umol/L increase	Illumina [899892]	N
880	chr9	38750578	38750579	rs184891496	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	9p13.1	intergenic	rs184891496-C		7E-6		0.284	unit increase	Illumina [5767231] (imputed)	N
1128	chr9	71229178	71229179	rs7864204	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	9q21.11	LOC347097, PIP5K1B	rs7864204-A	0.44	9E-7	(AA, Recreational physical activity)	0.04	[0.02-0.06] unit decrease	Affymetrix [706791]	N
1130	chr9	71434706	71434707	rs4744712	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	9q21.11	PIP5K1B, FAM122A	rs4744712-A	0.39	8E-14	(eGFRcrea)	0.01	[0.008-0.016] ml/min/1.73 m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1130	chr9	71471911	71471912	rs6560397	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Pit-and-Fissure caries	996 European ancestry individuals		9q21.11	NR	rs6560397-T	0.4671	2E-7		1.289	[NR] unit decrease	Illumina [1200000] (imputed)	N
1132	chr9	71724125	71724126	rs7870657	25562672	Byrne EM	2014-12-09	J Clin Psychiatry	Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.	Seasonality	3,269 European ancestry individuals	887 Old order Amish individuals	9q21.11	FXN	rs7870657-A	NR	9E-6		0.41	[0.23-0.59] unit decrease	Affymetrix, Illumina [2354422] (imputed)	N
1132	chr9	71766592	71766593	rs11145465	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	9q21.11	TJP2	rs11145465-A	0.25	7E-9		0.124	[0.083-0.165] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1133	chr9	71865931	71865932	rs2282335	22044751	Foster MC	2011-11-01	BMC Med Genet	Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.	Renal sinus fat	2,809 European ancestry individuals	NA	9q21.11	TJP2	rs2282335-A	0.36	4E-6		0.171	[0.098-0.244] unit increase	Affymetrix [~ 2500000] (imputed)	N
1133	chr9	71943001	71943002	rs3750552	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	9q21.12	PGM5	rs3750552-?	NR	5E-6	(NSM vs. Control)	1.679	[NR]	Affymetrix [703012]	N
1134	chr9	72087235	72087236	rs4744901	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q21.12	NR	rs4744901-C	NR	8E-6		1.098901	[NR]	Illumina [7158791] (imputed)	N
1141	chr9	72998331	72998332	rs11142387	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	9q21.12	KLF9	rs11142387-C	0.41	3E-8		0.0324	[0.021-0.044] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1141	chr9	72998331	72998332	rs11142387	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	9q21.12	KLF9	rs11142387-C	0.46	1E-9		0.04	[0.018-0.062] unit increase	Illumina [2178018] (imputed)	N
1142	chr9	73094534	73094535	rs963265	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	9q21.12	intergenic	rs963265-?	0.6	1E-6		1.12	[1.08-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1143	chr9	73157415	73157416	rs10780944	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	9q21.12	TRPM3	rs10780944-G	0.19	8E-7	(Single Height-males)	0.09	[0.053-0.127] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1147	chr9	73784263	73784264	rs4745062	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	9q21.12	TRPM3	rs4745062-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1148	chr9	73840917	73840918	rs2309891	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9q21.12	NR	rs2309891-?	NR	3E-7	(AA)	0.3754	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1149	chr9	73950954	73950955	rs2043144	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	9q21.13	TRPM3	rs2043144-?	NR	4E-6	(Response)	2.63	[NR]	Illumina [~ 7000000] (imputed)	N
1156	chr9	74887702	74887703	rs11143230	20877300	Perroud N	2010-09-28	Pharmacogenomics J	Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.	Suicidal ideation	706 European ancestry individuals	NA	9q21.13	GDA	rs11143230-C	0.35	8E-7	(Whole sample)	1.88	[NR]	Illumina [539199]	N
1156	chr9	74887702	74887703	rs11143230	20877300	Perroud N	2010-09-28	Pharmacogenomics J	Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.	Suicidal ideation	706 European ancestry individuals	NA	9q21.13	GDA	rs11143230-C	0.35	7E-6	(Escitalopram)	2.22	[NR]	Illumina [539199]	N
1163	chr9	75764564	75764565	rs3758354	20713499	Huang J	2010-08-16	Am J Psychiatry	Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.	Schizophrenia, bipolar disorder and depression (combined)	402 European ancestry schizophrenia cases, 1,021 European ancestry bipolar I cases, 493 European ancestry bipolar II cases, 1,210 European ancestry MDD cases, 1,060 European ancestry controls	NA	9q21.13	ANXA1	rs3758354-C	0.03	3E-6				Affymetrix, Perlegen [1574154] (imputed)	N
1165	chr9	76115817	76115818	rs383182	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	9q21.13	ANXA1	rs383182-C	0.04	4E-6	(women)	0.237	[0.14-0.34] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1166	chr9	76157699	76157700	rs12555078	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q21.13	LOC138972	rs12555078-A	0.098	2E-6	(RANTES )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1166	chr9	76158681	76158682	rs11143609	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	9q21.13	intergenic	rs11143609-?	NR	7E-6	(progression)			Illumina [NR]	N
1168	chr9	76492426	76492427	rs17059531	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	9q21.13	intergenic	rs17059531-?		6E-6				NR [~ 3000000] (imputed)	N
1170	chr9	76710283	76710284	rs7020553	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	9q21.13	LOC138971, LOC100130911	rs7020553-A	0.345	4E-6		2.18	[1.55-3.05]	Illumina [1556551]	N
1171	chr9	76917839	76917840	rs10746953	26227905	Hu Y	2015-07-31	Mol Neurobiol	A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.	Parkinson's disease	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	9q21.13	ANXA1, LOC100130911	rs10746953-?	NR	1E-6		2.62	[1.91-3.60]	Illumina [862198]	N
1173	chr9	77149836	77149837	rs7042950	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	9q21.13	RORB	rs7042950-G	0.24	4E-8		0.096	[0.061-0.131] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1173	chr9	77149836	77149837	rs7042950	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	9q21.13	RORB	rs7042950-A	0.80	9E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1175	chr9	77342814	77342815	rs514209	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q21.13	NR	rs514209-C	NR	5E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1175	chr9	77407814	77407815	rs144773862	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9q21.13	NR	rs144773862-?	NR	6E-6	(Native Hawaiian)	1.1625	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1175	chr9	77455458	77455459	rs113607577	26058915	Tin A	2015-05-29	BMC Genet	Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study.	Magnesium levels	2,737 African American individuals	942 African American individuals	9q21.13	TRPM6	rs113607577-G	0.9	5E-7		0.017	[NR] mmol/L decrease	Affymetrix [14825944] (imputed)	N
1176	chr9	77499795	77499796	rs11144134	20700443	Meyer TE	2010-08-05	PLoS Genet	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	Magnesium levels	15,366 European ancestry individuals	8,463 European ancestry individuals	9q21.13	TRPM6	rs11144134-T	0.92	8E-15		0.01	[0.009-0.013] mmol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1178	chr9	77808518	77808519	rs17060946	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	9q21.13	OSTF1, PCSK5	rs17060946-?		3E-6	(M)	37.86	[21.59-54.13] unit increase	Illumina [693128]	N
1178	chr9	77832574	77832575	rs1332366	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	9q21.13	OSTF1	rs1332366-?	NR	1E-6	(AA)	2.0	[1.28-4.55]	Affymetrix, Illumina [NR] (imputed)	N
1180	chr9	78028345	78028346	rs489332	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	9q21.13	intergenic	rs489332-?	NR	6E-6	(Mood symptoms)	0.1097	[NR] unit decrease	Affymetrix [696491]	N
1182	chr9	78276674	78276675	rs10512049	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	9q21.13	PCSK5	rs10512049-?	NR	3E-6		0.007	[NR] unit decrease	Illumina [478011]	N
1183	chr9	78425924	78425925	rs12344488	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (AST)	236 European ancestry cases	NA	9q21.13	intergenic	rs12344488-A	0.07	5E-6		0.51	[NR] unit decrease	Illumina [324623]	N
1184	chr9	78542285	78542286	rs11144688	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	9q21.13	PCSK5	rs11144688-A	0.108	6E-24		0.063	[0.051-0.075] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1184	chr9	78542285	78542286	rs11144688	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	9q21.13	PCSK5	rs11144688-G	0.89	4E-16		1.48	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1184	chr9	78542285	78542286	rs11144688	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q21.13	PCSK5	rs11144688-A	0.11	1E-11		0.049	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1185	chr9	78665775	78665776	rs7047865	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	9q21.13	PCSK5	rs7047865-G	NR	5E-6		0.2188	unit increase	Illumina [5767231] (imputed)	N
1185	chr9	78665775	78665776	rs7047865	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	9q21.13	PCSK5	rs7047865-G	0.41	7E-6	(Meta)			Illumina [254145]	N
1186	chr9	78793420	78793421	rs11144781	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	9q21.13	PCSK5	rs11144781-T	0.0318	2E-6	(Ordinal)	0.7998	[0.47-1.13] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1186	chr9	78793420	78793421	rs11144781	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	9q21.13	PCSK5	rs11144781-T	0.0316	3E-6		0.8393	[0.49-1.19] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1186	chr9	78841400	78841401	rs10746997	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	9q21.13	PCSK5	rs10746997-?	NR	1E-6	(Baseline)	0.14	[0.081-0.199] ng/dL decrease	Affymetrix [2543887] (imputed)	N
1187	chr9	78906149	78906150	rs2842483	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (age of onset)	978 European ancestry cases, 883 European ancestry controls	NA	9q21.13	RFK	rs2842483-?	0.29	5E-6			[NR]	Illumina [551642]	N
1188	chr9	79038169	79038170	rs6560517	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	9q21.13	GCNT1, RPSAP9	rs6560517-?	0.71	7E-6		1.56	[1.28-1.89]	Affymetrix [832357]	N
1190	chr9	79408143	79408144	rs10781380	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	9q21.2	PRUNE2	rs10781380-?	NR	7E-7				Illumina [516645]	N
1192	chr9	79610627	79610628	rs79460104	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	9q21.2	intergenic	rs79460104-?	NR	4E-6	(SF10)			Affymetrix [5476100] (imputed)	N
1197	chr9	80320364	80320365	rs4745661	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q21.2	NR	rs4745661-G	0.684846625	3E-6	(IGP10)	0.1618	[0.094-0.23] unit decrease	Illumina [~ 2500000] (imputed)	N
1202	chr9	80940575	80940576	rs1411916	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	9q21.2	PSAT1	rs1411916-A	0.11	4E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1203	chr9	81083896	81083897	rs10125737	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q21.2	PSAT1	rs10125737-A	0.294	6E-6	(Vigorous activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1205	chr9	81268148	81268149	rs149951341	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	9q21.31	TLE4	rs149951341-C	0.798	3E-12		0.05	[0.036-0.064] unit decrease	Illumina [7428049] (imputed)	N
1205	chr9	81310679	81310680	rs1757948	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	9q21.31	KRT18P24	rs1757948-G	0.27	7E-6	(vWF levels)	0.15	[0.09-0.21] IU/dL increase	Illumina [442728]	N
1205	chr9	81368653	81368654	rs117347249	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	9q21.31	NR	rs117347249-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1209	chr9	81886747	81886748	rs369019574	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	9q21.31	intergenic	rs369019574-A	NR	4E-6		1.4925373	[NR]	Illumina [up to 9792010] (imputed)	N
1209	chr9	81889357	81889358	rs2769967	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	9q21.31	intergenic	rs2769967-?	NR	3E-6	(count)			Perlegen [429981]	N
1209	chr9	81905589	81905590	rs17791513	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	9q21.31	TLE4	rs17791513-A	0.93	3E-8		1.21	[1.13-1.31]	Affymetrix, Illumina [2500000] (imputed)	N
1210	chr9	81952127	81952128	rs13292136	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	9q21.31	CHCHD9	rs13292136-C		3E-8		1.11	[1.07-1.15]	Affymetrix, Illumina [2426886] (imputed)	N
1210	chr9	82039361	82039362	rs2378383	19714205	Hancock DB	2009-08-28	PLoS Genet	Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children.	Asthma (childhood onset)	492 Mexican ancestry trios	177 Mexican ancestry trios	9q21.31	TLE4, CHCHD9	rs2378383-?	0.78	7E-7		1.64	[1.32-2.04]	Illumina [520767]	N
1210	chr9	82042490	82042491	rs12554999	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	9q21.31	TLE4	rs12554999-A	0.05	2E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1211	chr9	82060527	82060528	rs11138220	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	9q21.31	intergenic	rs11138220-?		8E-6	(disease-free survival)	2.76	[1.77-4.31]	Illumina [729737]	N
1211	chr9	82163312	82163313	rs11138290	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	9q21.31	NR	rs11138290-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1212	chr9	82310897	82310898	rs914715	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	9q21.31	NR	rs914715-?	NR	1E-6	(dominant)			Affymetrix [NR]	N
1213	chr9	82345880	82345881	rs2151145	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	9q21.31	NR	rs2151145-?	NR	1E-7		0.41	[0.26-0.56] years increase	Illumina [315418]	N
1216	chr9	82807502	82807503	rs12554086	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	9q21.31	intergenic	rs12554086-A	0.39	4E-7		0.16	[0.10-0.22] unit decrease	Illumina [~ 318327]	N
1220	chr9	83265248	83265249	rs17266958	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	9q21.31	NR	rs17266958-T	0.0756	4E-6		0.2	[0.11-0.28] unit decrease	Affymetrix, Illumina [2403520] (imputed)	N
1225	chr9	84015036	84015037	rs10867752	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	9q21.31	RP11-232A1.1	rs10867752-?	NR	3E-6				Illumina [516645]	N
1227	chr9	84213159	84213160	rs2777777	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	9q21.32	TLE1	rs2777777-C	0.55	9E-6	(Women)			Affymetrix, Illumina [2500000] (imputed)	N
1227	chr9	84222617	84222618	rs815847	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	9q21.32	TLE1	rs815847-G	0.36	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1228	chr9	84308947	84308948	rs2796441	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q21.32	NR	rs2796441-G	NR	2E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1228	chr9	84308947	84308948	rs2796441	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	9q21.32	TLE1	rs2796441-G	0.63	2E-6		1.07	[1.03-1.12]	Affymetrix, Illumina [2500000] (imputed)	N
1228	chr9	84372740	84372741	rs11139399	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	9q21.32	TLE1	rs11139399-C	0.41	1E-6	(Hippocampal volume)			Illumina [2131250] (imputed)	N
1229	chr9	84522748	84522749	rs13295552	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q21.32	NR	rs13295552-C	0.029172681294964	5E-6	(IGP56)	0.9104	[0.52-1.3] unit increase	Illumina [~ 2500000] (imputed)	N
1231	chr9	84739940	84739941	rs11139497	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q21.32	NR	rs11139497-A	NR	2E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
1231	chr9	84739940	84739941	rs11139497	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	9q21.32	TLE1	rs11139497-A	0.337	4E-9		1.069	[1.045-1.093]	Affymetrix, Illumina [9005918] (imputed)	N
1233	chr9	84982397	84982398	rs4877691	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	9q21.32	FAM75D1	rs4877691-A	NR	7E-7	(Pi10, Cases)	0.017	[0.0017-0.0323] unit decrease	Illumina [7600000] (imputed)	N
1234	chr9	85135914	85135915	rs7043482	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	9q21.32	intergenic	rs7043482-G	0.19	3E-6	(HOMA-IR)	12.0	[7.00 - 18.00] % increase	Affymetrix [872243]	N
1235	chr9	85311146	85311147	rs668853	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	9q21.32	intergenic	rs668853-G	0.39	2E-6		1.2		Illumina [280748]	N
1236	chr9	85414980	85414981	rs1998303	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	9q21.32	intergenic	rs1998303-?	NR	1E-6	(AAT)			Affymetrix [70897]	N
1238	chr9	85609780	85609781	rs10867921	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q21.32	RASEF	rs10867921-A	0.03	8E-6	(Bike energy expenditure )	0.03	[NR] kcal/min increase	Illumina [899892]	N
1240	chr9	85910511	85910512	rs1570582	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	9q21.32	FRMD3	rs1570582-C	0.9476	9E-6	(Ordinal II)	0.502	[0.28-0.72] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1240	chr9	85910511	85910512	rs1570582	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	9q21.32	FRMD3	rs1570582-C	0.9471	2E-6	(Ordinal I)	0.5137	[0.3-0.73] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1245	chr9	86552204	86552205	rs7853377	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q21.32	C9orf64	rs7853377-A	0.77	5E-8		0.024	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1246	chr9	86715565	86715566	rs7853970	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9q21.32	RMI1, NTRK2	rs7853970-T	0.47	2E-9		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1246	chr9	86741460	86741461	rs13288553	23918034	Kuhnisch J	2013-08-07	Clin Oral Investig	Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).	Molar-incisor hypomineralization	88 European ancestry cases, 580 European ancestry controls	NA	9q21.32	SLC28A3, RMI1	rs13288553-T	0.148	2E-6		4.25	[2.33-7.75]	Affymetrix [2013491] (imputed)	N
1247	chr9	86771160	86771161	rs12003072	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (age at onset)	5,148 European ancestry users	NA	9q21.32	NR	rs12003072-A		3E-7		0.52	[0.34-0.7] unit increase	NR [5896100] (imputed)	N
1248	chr9	86922035	86922036	rs10123041	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	9q21.33	SLC28A3, RMI1, LOC729388	rs10123041-T	0.16	6E-6	(HDL, sum)			Illumina [~ 2500000] (imputed)	N
1248	chr9	86944424	86944425	rs12000457	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q21.33	SLC28A3	rs12000457-A	0.04	4E-6	(Sleep duration )	0.03	[NR] min/d increase	Illumina [899892]	N
1249	chr9	87152508	87152509	rs11140653	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	9q21.33	NTRK2, SLC28A3	rs11140653-?	NR	3E-7		0.48	[0.30-0.66] unit increase	Illumina [1075436] (imputed)	N
1250	chr9	87186404	87186405	rs4877280	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	9q21.33	SLC28A3, NTRK2	rs4877280-T	NR	9E-6	(Recreational physical activity)	0.04	[NR] unit increase	Affymetrix [706791]	N
1251	chr9	87380672	87380673	rs77362122	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9q21.33	NR	rs77362122-?	NR	7E-6	(EA)	0.4737	[0.27-0.68] unit increase	Illumina [up to 11892802] (imputed)	N
1254	chr9	87770926	87770927	rs12340987	24950379	Metrustry SJ	2014-06-20	Twin Res Hum Genet	Variants close to NTRK2 gene are associated with birth weight in female twins.	Birth weight	4,593 European ancestry female twins	3,033 European ancestry female twins, 1,418 European ancestry females, 1,579 European ancestry males	9q21.33	NTRK2	rs12340987-A	0.20	1E-8		0.13	[0.091-0.169] unit decrease	Illumina [up to 874733]	N
1255	chr9	87930044	87930045	rs2841498	20522523	Kasperaviciute D	2010-06-03	Brain	Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.	Partial epilepsies	Up to 3,445 European ancestry cases, 6,935 European ancestry controls	NA	9q21.33	AL354897.1	rs2841498-?	NR	4E-6				Illumina [528745]	N
1263	chr9	88963007	88963008	rs17461620	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	9q21.33	ZCCHC6, ISCA1, LOC392358	rs17461620-A	0.157	5E-6		2.34	[1.61-3.41]	Illumina [1556551]	N
1264	chr9	89116627	89116628	rs8181166	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q21.33	ZCCHC6	rs8181166-C	0.53	3E-12		0.026	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1268	chr9	89527457	89527458	rs11141597	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	9q21.33	intergenic	rs11141597-?	NR	2E-6				Affymetrix [786195]	N
1268	chr9	89558063	89558064	rs12350534	24578207	Opherk C	2014-02-27	Stroke	Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.	White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy	466 European ancestry individuals	NA	9q21.33	NR	rs12350534-T	NR	4E-6		0.0447	[NR] unit increase	Affymetrix [583499]	N
1268	chr9	89573082	89573083	rs9792548	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	9q21.33	GAS1	rs9792548-C	0.15	4E-6	(HOMA-IR)	12.0	[7.00 - 16.00] % decrease	Affymetrix [872243]	N
1271	chr9	90031668	90031669	rs1806864	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	9q21.33	NR	rs1806864-?	NR	1E-6		1.4392	[NR]	Affymetrix [722112]	N
1272	chr9	90159312	90159313	rs1421001	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	9q21.33	DAPK1	rs1421001-A	0.214	4E-6	(DSST)	4.3211	[2.49-6.15] unit increase	Affymetrix [> 371951] (imputed)	N
1273	chr9	90209136	90209137	rs3095748	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	9q21.33	DAPK1	rs3095748-G		5E-7	(AA)			Illumina [NR]	N
1273	chr9	90235793	90235794	rs11141915	22293537	Kiyotani K	2012-01-29	Pharmacogenet Genomics	A genome-wide association study identifies four genetic markers for hematological toxicities in cancer patients receiving gemcitabine therapy.	Response to gemcitabine in pancreatic cancer	21 Japanese ancestry adverse reaction cases, 58 Japanese ancestry non-adverse reaction individuals	33 Japanese ancestry adverse reaction cases, 62 Japanese ancestry non-adverse reaction individuals	9q21.33	DAPK1	rs11141915-T	0.62	1E-6	(Allelic)	4.1	[2.21-7.62]	Illumina [470064]	N
1273	chr9	90261694	90261695	rs3118867	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	9q21.33	DAPK1	rs3118867-G	0.47	7E-6	(EA, MAP, Age 50-59)	0.39	[0.21-0.57] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1273	chr9	90261694	90261695	rs3118867	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	9q21.33	DAPK1	rs3118867-G	0.47	4E-7	(EA, MAP, Age 50-59)	0.55	[0.33-0.77] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1273	chr9	90261694	90261695	rs3118867	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	9q21.33	DAPK1	rs3118867-G	0.47	4E-7	(EA, DBP, Age 50-59)	0.49	[0.31-0.67] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1274	chr9	90410221	90410222	rs12339094	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking quantity	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	9q21.33	NR	rs12339094-?		3E-6				Illumina [1211988] (imputed)	N
1275	chr9	90474945	90474946	rs6560039	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Gait variability	2,946 individuals	NA	9q22.1	XXyac-YM21GA2.4	rs6560039-T	0.22	2E-7	(stride length SD)	0.23	[0.14-0.32] unit decrease	Illumina [6200000] (imputed)	N
1277	chr9	90811181	90811182	rs2814828	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	9q22.1	CCRK, SPIN1	rs2814828-T	0.25	9E-7		5.4	[3.24-7.56] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1277	chr9	90826252	90826253	rs7031417	26081443	Adkins DE	2015-06-17	Twin Res Hum Genet	Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood.	Longitudinal alcohol consumption	2,126 adolescents and early adults	NA	9q22.1	LOC100129340	rs7031417-C	0.07	1E-8	(mean)	5.68	z-score decrease	Illumina [866099] (imputed)	N
1278	chr9	90835725	90835726	rs2778031	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q22.1	SPIN1	rs2778031-T	0.24	9E-13		0.031	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1281	chr9	91260561	91260562	rs17054265	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q22.1	LOC286238	rs17054265-A	0.17	4E-6	(Gestational age )	0.05	[NR] wk increase	Illumina [899892]	N
1283	chr9	91540058	91540059	rs1875620	22331829	Chasman DI	2012-02-13	Circ Cardiovasc Genet	Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.	Response to statin therapy (LDL-C)	6,989 European ancestry individuals	NA	9q22.1	S1PR3, SHC3, C9orf47	rs1875620-?	NR	7E-7	(absolute LDL-C reduction)	2.8	[1.62-3.98] mg/dL increase	Illumina [814418]	N
1287	chr9	92036426	92036427	rs4132699	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	9q22.2	NR	rs4132699-?	NR	5E-7	(Meta-All, NSCL/P)			NR [497084]	N
1288	chr9	92249583	92249584	rs10908907	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (heaviness of drinking)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	9q22.2	intergenic	rs10908907-G	0.25	6E-6		0.099	[NR] unit increase	Illumina [~ 300000]	N
1293	chr9	92887230	92887231	rs2081670	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	9q22.2	GADD45G, DIRAS2	rs2081670-?	0.15	3E-6	(MIP-1b)			Illumina [496032]	N
1295	chr9	93181530	93181531	rs883924	22841784	Patin E	2012-07-26	Gastroenterology	Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.	Hepatitis C induced liver fibrosis	1,161 European ancestry HCV-infected individuals	1,181 European ancestry HCV-infected individuals	9q22.2	LOC340515	rs883924-A	0.26	2E-6	(Duration F0-1/F3-4,>20yo)			Illumina [780650] (imputed)	N
1297	chr9	93409356	93409357	rs1831521	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	9q22.2	DIRAS2	rs1831521-?	NR	8E-6	(Nam)			Affymetrix [70897]	N
1297	chr9	93442204	93442205	rs10993625	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	9q22.2	NR	rs10993625-C	0.149	3E-6		1.97	[1.48-2.63]	Illumina [7261187] (imputed)	N
1298	chr9	93555738	93555739	rs290258	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	9q22.2	SYK	rs290258-?	NR	1E-6	(rs7679673)	1.3333	[1.19-1.49]	Affymetrix, Illumina [1117531] (imputed)	N
1298	chr9	93563535	93563536	rs290986	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	9q22.2	SYK	rs290986-A	NR	9E-7		1.1	[1.08-1.12]	Illumina [465434]	N
1299	chr9	93633239	93633240	rs10993738	22456796	Imamura M	2012-03-28	Hum Mol Genet	A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.	Type 2 diabetes	4,470 Japanese ancestry cases, 3,071 Japanese ancestry controls	7,605 Japanese ancestry cases, 3,534 Japanese ancestry controls	9q22.2	SYK	rs10993738-?	0.152	5E-6		1.16	[1.09-1.23]	NR [2229890] (imputed)	N
1299	chr9	93636663	93636664	rs290227	23480133	Kim Y	2011-02-28	World J Biol Psychiatry	Association of intronic sequence variant in the gene encoding spleen tyrosine kinase with susceptibility to vascular dementia.	Vascular dementia	84 Korean ancestry cases, 200 Korean ancestry controls	113 Korean ancestry cases, 255 Korean ancestry controls	9q22.2	SYK	rs290227-G	0.40	7E-11		2.2	[1.73-2.78]	NR [300640]	N
1301	chr9	93928415	93928416	rs4743820	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q22.2	NR	rs4743820-A	0.7	4E-9	(EA)	1.0842872		Affymetrix, Illumina [~ 9000000] (imputed)	N
1301	chr9	93928415	93928416	rs4743820	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q22.2	NR	rs4743820-A	0.7	4E-9	(EA)	1.0660416		Affymetrix, Illumina [~ 9000000] (imputed)	N
1301	chr9	93928415	93928416	rs4743820	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	9q22.2	NFIL3	rs4743820-T	0.702	4E-9		1.056	[1.023-1.089]	Affymetrix, Illumina [1230000] (imputed)	N
1301	chr9	93975470	93975471	rs773506	21150874	McDonough CW	2010-12-08	Kidney Int	A genome-wide association study for diabetic nephropathy genes in African Americans.	Type 2 diabetes nephropathy	965 African American cases, 1,029 African American controls	709 African American cases, 690 African American controls	9q22.31	AUH	rs773506-G	0.77	6E-6		1.32	[1.18-1.49]	Affymetrix [832357]	N
1304	chr9	94281709	94281710	rs6479352	25781172	Avramopoulos D	2015-03-17	PLoS One	Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.	Bipolar disorder (inflammation and infection response interaction)	397 Ashkenazi Jewish bipolar disorder cases, 241  Ashkenazi Jewish controls	NA	9q22.31	ROR2, NFIL3, AUH, MIR3910	rs6479352-?		8E-6	(anti-CMV)			Affymetrix [516638]	N
1305	chr9	94395859	94395860	rs1873747	25483131	Ghassibe-Sabbagh M	2014-12-08	Sci Rep	T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.	Type 2 diabetes	1,384 Lebanese ancestry cases, 1,902 Lebanese ancestry controls	NA	9q22.31	ROR2	rs1873747-T	0.13	4E-6		1.41	[1.22-1.63]	Illumina [5891794] (imputed)	N
1308	chr9	94822539	94822540	rs7872515	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	9q22.31	SPTLC1, ROR2	rs7872515-?	NR	6E-7		1.39	[NR]	Affymetrix [745006]	N
1309	chr9	94927734	94927735	rs7849530	25140149	Hohman TJ	2014-08-04	Front Aging Neurosci	Genetic variation modifies risk for neurodegeneration based on biomarker status.	Left inferior lateral ventricle volume (Cerebrospinal fluid biomarker status interaction)	382 European ancestry mild cognitive impairment cases, 114 European ancestry Alzheimer's disease cases, 194 European ancestry controls	NA	9q22.31	SPTLC1	rs7849530-?		3E-10	(Dilation, amyloid positive)	6.4	[NR] unit increase interaction	Illumina [296267]	N
1312	chr9	95387982	95387983	rs7043114	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	9q22.31	IPPK	rs7043114-T	0.56	2E-22		0.029	[0.023-0.035] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1313	chr9	95429119	95429120	rs9969804	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q22.31	IPPK	rs9969804-A	0.44	8E-17		0.03	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1314	chr9	95559504	95559505	rs10992471	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	9q22.31	BICD2, ZNF484	rs10992471-G	0.57	2E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1314	chr9	95679008	95679009	rs7875611	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q22.31	NR	rs7875611-T	NR	6E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1316	chr9	95887319	95887320	rs2275848	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	9q22.31	NINJ1	rs2275848-T	0.82	1E-6		1.23	[1.13-1.34]	Affymetrix [~ 2000000] (imputed)	N
1318	chr9	96191003	96191004	rs944990	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index	9,377 children and adolescents	3,918 European ancestry children and adolescents	9q22.31	FAM120A, FAM120AOS	rs944990-C	0.723	6E-8	(age 8)	0.012	[0.0081-0.0159] unit decrease	Illumina [~ 2200000] (imputed)	N
1319	chr9	96270236	96270237	rs12554020	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q22.31	NR	rs12554020-C	NR	6E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1321	chr9	96562562	96562563	rs7027203	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	9q22.31	intergenic	rs7027203-C	0.35	6E-6	(KvDMR)			Illumina [515966]	N
1322	chr9	96631133	96631134	rs10114408	23300701	Jiao S	2012-12-26	PLoS One	Genome-wide search for gene-gene interactions in colorectal cancer.	Colorectal cancer	8,380 European ancestry cases, 10,558 European ancestry controls	2,527 European ancestry cases, 2,628 European ancestry controls	9q22.31	CRAC1	rs10114408-?	0.76	3E-6	(rs4779584, known)	1.37	[1.20-1.56]	Illumina [2011668]	N
1322	chr9	96716027	96716028	rs11789015	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Esophageal adenocarcinoma	1,516 European ancestry cases, 3,209 European ancestry controls	874 European ancestry cases, 6,911 European ancestry controls	9q22.32	BARX1	rs11789015-A	0.717	2E-7		1.2346	[1.14-1.33]	Illumina [922031]	N
1322	chr9	96716027	96716028	rs11789015	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	9q22.32	BARX1	rs11789015-A	0.717	1E-9		1.2048	[1.14-1.27]	Illumina [922031]	N
1322	chr9	96716027	96716028	rs11789015	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Barrett's esophagus	2,416 European ancestry cases, 3,206 European ancestry controls	759 European ancestry cases, 6,911 European ancestry controls	9q22.32	BARX1	rs11789015-A	0.717	5E-6		1.1765	[1.1-1.27]	Illumina [922031]	N
1323	chr9	96758341	96758342	rs2398893	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	9q22.32	PTPDC1	rs2398893-A	0.7157	1E-6	(EA)	0.018	[0.011-0.025] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1323	chr9	96758341	96758342	rs2398893	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	9q22.32	PTPDC1	rs2398893-A	0.7125	5E-7		0.0181	[0.011-0.025] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1323	chr9	96858410	96858411	rs6479527	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Esophageal adenocarcinoma	1,516 European ancestry cases, 3,209 European ancestry controls	874 European ancestry cases, 6,911 European ancestry controls	9q22.32	PTPDC1	rs6479527-C	0.511	2E-6		1.1765	[1.1-1.27]	Illumina [922031]	N
1324	chr9	96893944	96893945	rs1257763	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q22.32	PTPDC1	rs1257763-A	0.04	1E-9		0.069	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1325	chr9	97068925	97068926	rs10993160	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	9q22.32	ZNF169	rs10993160-A	0.83	6E-7		0.053	[0.031-0.075] unit increase	Illumina [2178018] (imputed)	N
1327	chr9	97314740	97314741	rs16910061	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	9q22.32	FBP2	rs16910061-T	0.14	3E-6		0.53	[NR] cm decrease	Affymetrix [334546]	N
1327	chr9	97358140	97358141	rs117926975	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	9q22.32	NR	rs117926975-?	NR	2E-6	(Native Hawaiian)	1.202	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1328	chr9	97444037	97444038	rs10125337	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q22.32	FBP1, C9orf3	rs10125337-G	0.0040	4E-6	(CRP )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1330	chr9	97713458	97713459	rs10821415	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	9q22.32	C9orf3	rs10821415-A	0.42	4E-11		1.11	[1.08-1.15]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1330	chr9	97741273	97741274	rs3802458	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	9q22.32	C9orf3	rs3802458-?	0.04	4E-6		10.53	[NR]	Affymetrix [512497]	N
1330	chr9	97741335	97741336	rs3802457	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	9q22.32	C9orf3	rs3802457-G	0.904	5E-14		1.3	[NR]	Affymetrix [NR] (imputed)	N
1334	chr9	98231007	98231008	rs16909898	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	9q22.32	PTCH1	rs16909898-?	NR	8E-12	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1334	chr9	98231007	98231008	rs16909898	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	9q22.32	PTCH1	rs16909898-A	0.90	5E-7	(FEV1/FVC)	0.5	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
1334	chr9	98256234	98256235	rs473902	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q22.32	PTCH1/FANCC	rs473902-T	0.92	2E-17		0.065	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1334	chr9	98259702	98259703	rs10512248	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	9q22.32	PTCH1	rs10512248-T	0.62	2E-7		0.031	[0.017-0.045] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1334	chr9	98259702	98259703	rs10512248	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	9q22.32	PTCH1	rs10512248-G	0.31	4E-11		0.05	[0.02-0.07] s.d. increase (males)	Affymetrix [402951]	N
1334	chr9	98266369	98266370	rs4448343	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	9q22.32	PTCH1	rs4448343-A	0.654	5E-30		0.035	[0.029-0.041] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1335	chr9	98368760	98368761	rs1984119	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	9q22.32	PTCH1	rs1984119-C	0.26	2E-10		0.063	[0.043-0.083] unit decrease	Affymetrix, Illumina [2193675] (imputed)	N
1335	chr9	98376698	98376699	rs10988802	20237162	Bozaoglu K	2010-03-17	J Clin Endocrinol Metab	Chemerin, a novel adipokine in the regulation of angiogenesis.	Chemerin levels	858 Mexican American family members and individuals	NA	9q22.32	PTCH	rs10988802-?	NR	4E-6				Illumina [542944]	N
1335	chr9	98380221	98380222	rs817300	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	9q22.32	PTCH1	rs817300-A	0.071	4E-34		0.085	[0.071-0.099] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1335	chr9	98429265	98429266	rs11790994	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	9q22.32	intergenic	rs11790994-?	NR	2E-7	(binary)			Perlegen [429981]	N
1338	chr9	98816483	98816484	rs1547201	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q22.32	NR	rs1547201-C	0.530244325912734	4E-6	(IGP5)	0.1449	[0.083-0.206] unit decrease	Illumina [~ 2500000] (imputed)	N
1338	chr9	98816483	98816484	rs1547201	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q22.32	NR	rs1547201-C	0.530022081441923	7E-6	(IGP45)	0.1416	[0.08-0.203] unit decrease	Illumina [~ 2500000] (imputed)	N
1338	chr9	98827813	98827814	rs7867155	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety in major depressive disorder	1,080 European ancestry cases, 442 European ancestry controls	NA	9q22.32	LOC158435	rs7867155-?	0.88	9E-7	(Dichotomous)	1.84	[NR]	Illumina [471581]	N
1339	chr9	98844058	98844059	rs12346945	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9q22.32	NR	rs12346945-?	NR	2E-7	(Latino)	1.3995	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1339	chr9	98867812	98867813	rs10819861	25055868	Sano M	2014-07-23	Hum Mol Genet	Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.	Electrocardiographic traits	2,994 Japnese ancestry individuals	6,805 Korean ancestry individuals	9q22.32	NCRNA00092, LOC100128771	rs10819861-G	0.476	7E-7	(QT)	1.157	[NR] unit increase	Illumina [~ 2500000]	N
1340	chr9	99002184	99002185	rs8190560	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	9q22.32	NR	rs8190560-?		2E-6	(females)			Illumina [1211988] (imputed)	N
1340	chr9	99029288	99029289	rs7042315	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9q22.32	NR	rs7042315-?	NR	6E-8	(Latino)	1.4753	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1341	chr9	99097526	99097527	rs6479272	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	9q22.32	SLC35D2	rs6479272-T	0.086	9E-6	(Additive model)			Affymetrix [271817]	N
1341	chr9	99132043	99132044	rs10820447	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	9q22.32	intergenic	rs10820447-T	0.16	6E-6		1.16	[1.09-1.23]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1341	chr9	99161511	99161512	rs2025151	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	9q22.32	ZNF367	rs2025151-G	0.18	2E-12		1.22	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1341	chr9	99201584	99201585	rs7870753	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	9q22.32	HABP4	rs7870753-A	0.777	4E-33		0.043	[0.035-0.051] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1344	chr9	99539137	99539138	rs10816533	19030899	Lei SF	2008-11-23	Hum Genet	Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.	Height	618 Chinese ancestry individuals	2,953 Chinese ancestry individuals	9q22.33	ZNP510	rs10816533-C	0.29	2E-6				Affymetrix [281533]	N
1350	chr9	100316229	100316230	rs1475545	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q22.33	TMOD1	rs1475545-A	0.394	5E-6	(Urinary free dopamine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
1351	chr9	100511330	100511331	rs16924016	24571439	Nudel R	2014-02-26	Genes Brain Behav	Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.	Parent of origin effect on language impairment (paternal)	153 European ancestry case-parent trios, 54 European ancestry case-mother duos, 12 European ancestry case-father duos, 18 European ancestry cases	NA	9q22.33	KRT18P13, FOXE1	rs16924016-?		5E-6				Illumina [614937]	N
1352	chr9	100546599	100546600	rs925489	24852370	Zhan M	2014-05-22	Hum Mol Genet	Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.	Serum thyroid-stimulating hormone levels	1,346 Han Chinese ancestry individuals	3,235 She Chinese ancestry individuals	9q22.33	XPA, FOXE1	rs925489-C	0.109	1E-13		0.058	[NR] unit decrease	Illumina [8503852] (imputed)	N
1352	chr9	100546599	100546600	rs925489	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	9q22.33	KRT18P13, FOXE1, C9orf156	rs925489-T	0.668	2E-19		1.28	[1.22-1.35]	Illumina [870065]	N
1352	chr9	100549012	100549013	rs7850258	21981779	Denny JC	2011-10-07	Am J Hum Genet	Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.	Hypothyroidism	1,317 European ancestry cases, 5,053 European ancestry controls	263 European ancestry cases, 1,616 European ancestry controls	9q22.33	FOXE1	rs7850258-?	0.65	4E-9	(eMERGE)	1.23	[1.04-1.47]	Illumina [522164]	N
1352	chr9	100550027	100550028	rs1443438	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q22.33	XPA, FOXE1	rs1443438-A	0.253	1E-9	(TSH )	0.04	[NR] uIU/mL increase	Illumina [899892]	N
1352	chr9	100556108	100556109	rs965513	25855579	Mancikova V	2015-04-22	Int J Cancer	Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.	Thyroid cancer	398 European ancestry cases , 502 European ancestry controls	1,422 European ancestry cases, 1,908 European ancestry controls	9q22.33	FOXE-1	rs965513-A	0.34	3E-23		1.65	[1.49-1.82]	Affymetrix [474624]	N
1352	chr9	100556108	100556109	rs965513	23894154	Kohler A	2013-07-26	J Clin Endocrinol Metab	Genome-wide association study on differentiated thyroid cancer.	Thyroid cancer	690 European ancestry cases, 497 European ancestry controls	2,958 European ancestry cases, 3,727 European ancestry controls	9q22.33	FOXE1	rs965513-A	NR	3E-10		1.78	[NR]	Illumina [572042]	N
1352	chr9	100556108	100556109	rs965513	20350937	Takahashi M	2010-03-29	Hum Mol Genet	The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl.	Thyroid cancer (Papillary, radiation-related)	401 European ancestry cases, 620 European ancestry controls	259 cases, 648 controls	9q22.33	TMOD1, C9orf97, NCBP1, XPA, HEMGN, KRT18P13, FOXE1, C9orf156	rs965513-A	NR	5E-12		1.65	[1.43-1.91]	Illumina [506840]	N
1352	chr9	100556108	100556109	rs965513	19198613	Gudmundsson J	2009-02-06	Nat Genet	Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations.	Thyroid cancer	192 European ancestry cases, 37,196 European ancestry controls	432 European ancestry cases, 1,727 European ancestry controls	9q22.33	FOXE1	rs965513-A	0.34	2E-27		1.75	[1.59-1.94]	Illumina [304083]	N
1352	chr9	100556971	100556972	rs10759944	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	9q22.33	FOXE1	rs10759944-A	0.33	1E-6	(EA)	0.05	[0.03-0.07] unit decrease	Illumina [up to 905285]	N
1352	chr9	100591462	100591463	rs7045138	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	9q22.33	FOXE1	rs7045138-T	0.553	5E-7	(FT4-Males)	0.105	[0.064-0.146] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1352	chr9	100591462	100591463	rs7045138	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	9q22.33	FOXE1	rs7045138-T	0.553	3E-6	(FT4-Females)	0.093	[0.054-0.132] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1352	chr9	100591462	100591463	rs7045138	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	9q22.33	FOXE1	rs7045138-T	0.553	2E-11	(FT4)	0.098	[0.069-0.127] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1352	chr9	100628267	100628268	rs10122541	25855579	Mancikova V	2015-04-22	Int J Cancer	Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.	Thyroid cancer	398 European ancestry cases , 502 European ancestry controls	1,422 European ancestry cases, 1,908 European ancestry controls	9q22.33	FOXE1	rs10122541-G	0.33	1E-17		1.54	[1.40-1.70]	Affymetrix [474624]	N
1352	chr9	100658317	100658318	rs7037324	25855579	Mancikova V	2015-04-22	Int J Cancer	Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.	Thyroid cancer	398 European ancestry cases , 502 European ancestry controls	1,422 European ancestry cases, 1,908 European ancestry controls	9q22.33	FOXE1	rs7037324-A	0.34	1E-17		1.54	[1.39-1.70]	Affymetrix [474624]	N
1353	chr9	100696202	100696203	rs755109	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	9q22.33	HEMGN, C9ORF156	rs755109-C	0.23	1E-6	(TSH)	0.31	[NR] mIU/L decrease	Affymetrix [408775]	N
1353	chr9	100740123	100740124	rs4743150	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	9q22.33	intergenic	rs4743150-?	NR	5E-6				Illumina [574919]	N
1353	chr9	100742252	100742253	rs7855088	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	9q22.33	ANP32B	rs7855088-C	0.44	6E-6	(EA)	0.05	[0.03-0.07] unit decrease	Illumina [up to 905285]	N
1355	chr9	100983825	100983826	rs7866350	26114229	Ashley-Koch AE	2015-06-12	J Affect Disord	Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.	Post-traumatic stress disorder	949 non-Hispanic black individuals, 759 European ancestry individuals	NA	9q22.33	TBC1D2	rs7866350-?	NR	1E-6	EA	2.27	[NR]	Illumina [up to 5616481] (imputed)	N
1356	chr9	101076626	101076627	rs16914811	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q22.33	NR	rs16914811-A	NR	6E-7		1.08	[NR]	Illumina [7158791] (imputed)	N
1356	chr9	101092315	101092316	rs16914931	25089948	Theusch E	2014-10-01	Pharmacogenet Genomics	Ancestry and other genetic associations with plasma PCSK9 response to simvastatin.	Response to simvastatin treatment (PCSK9 protein level change)	562 European ancestry individuals	287 African American individuals	9q22.33	GABBR2	rs16914931-A	0.121	1E-6	(EA)	0.198	[NR] unit increase	Illumina [570422]	N
1356	chr9	101123335	101123336	rs10986018	19744961	Hazra A	2009-09-10	Hum Mol Genet	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	Folate pathway vitamin levels	3,305 European ancestry females, 1,458 European ancestry males	NA	9q22.33	GPR51	rs10986018-?	0.22	2E-8	(plasma homocysteine)	0.06	[0.040-0.080] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1357	chr9	101253225	101253226	rs2779551	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	9q22.33	GABBR2	rs2779551-?	NR	2E-6	(Whole cohort; EA)			Illumina [up to 871502]	N
1360	chr9	101644537	101644538	rs1407508	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	9q22.33	intergenic	rs1407508-?		9E-7	(disease-free survival)	2.53	[1.75-3.66]	Illumina [729737]	N
1361	chr9	101761240	101761241	rs1413299	25134534	Chen K	2014-08-19	Nat Commun	Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.	Epithelial ovarian cancer	1,044 Han Chinese ancestry cases, 1,172 Han Chinese ancestry controls	1,452 Han Chinese ancestry cases, 2,803 Han Chinese ancestry controls	9q22.33	TGFBR1, COL15A1	rs1413299-C	0.38	2E-8		1.2	[1.03-1.41]	Illumina [710714]	N
1362	chr9	101908364	101908365	rs334353	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	9q22.33	TGFBR1	rs334353-T	0.73	3E-11		1.13	[1.10-1.17]	Affymetrix, Illumina [2442884] (imputed)	N
1363	chr9	102037969	102037970	rs10819643	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	9q22.33	NR	rs10819643-?		1E-6	(EA)			Illumina [up to 524000]	N
1364	chr9	102119089	102119090	rs12551906	23874384	Viding E	2013-07-09	PLoS One	Genetics of callous-unemotional behavior in children.	Callous-unemotional behaviour	2,930 European ancestry children	NA	9q22.33	SEC61B, ALG2, TGFBR1	rs12551906-G	0.689	3E-6				Affymetrix [1724317] (imputed)	N
1364	chr9	102225543	102225544	rs35775808	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	9q22.33	NR	rs35775808-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
1364	chr9	102234322	102234323	rs649057	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	9q22.33	NR	rs649057-T	0.05057	8E-6		6.806	[NR] unit increase	Illumina [1200000] (imputed)	N
1364	chr9	102234322	102234323	rs649057	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	9q22.33	TGFBR1, NR4A3	rs649057-?	NR	5E-6	(DMFS5)			Illumina [518997]	N
1368	chr9	102723691	102723692	rs10760706	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	9q31.1	STX17	rs10760706-G	0.31	4E-7		1.32	[1.19-1.47]	Illumina [463301]	N
1369	chr9	102808684	102808685	rs7028939	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	9q31.1	ERP44	rs7028939-?	NR	3E-6	(EA)	3.17	[1.95-5.15]	Illumina [2485249] (imputed)	N
1370	chr9	102976540	102976541	rs10989019	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	9q31.1	INVS	rs10989019-?	NR	2E-6	(EA)	3.21	[1.98-5.20]	Illumina [2485249] (imputed)	N
1373	chr9	103368362	103368363	rs10819795	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-42)	3,528 European ancestry individuals	NA	9q31.1	MURC	rs10819795-A	0.025	7E-6		0.23	[0.13-0.33] unit increase	Illumina [2316178] (imputed)	N
1380	chr9	104223232	104223233	rs10819937	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	9q31.1	ALDOB, C9orf125	rs10819937-C	0.17	1E-9		2.5	[1.40-3.60] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1380	chr9	104236773	104236774	rs1929494	25352737	Ritchie MD	2014-09-19	Mol Vis	Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.	Age-related cataracts	5,503 European, Black, and other ancestry cases age 50 and older, 1,894 European, Black, and other ancestry controls age 50 and older	NA	9q31.1	LOC100129210, ALDOB, C90rf125	rs1929494-T	0.4391	2E-6		1.217	[NR]	Illumina [530101]	N
1382	chr9	104537609	104537610	rs4523321	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q31.1	GRIN3A	rs4523321-A	0.0040	2E-6	(Vigorous activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1382	chr9	104537609	104537610	rs4523321	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q31.1	GRIN3A	rs4523321-A	0.0040	1E-6	(Vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1383	chr9	104622867	104622868	rs10989661	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	9q31.1	intergenic	rs10989661-?	0.74	6E-6	(CIGSTAT)	1.68	[NR]	Illumina [~ 518000]	N
1383	chr9	104623358	104623359	rs12552818	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	9q31.1	GRIN3A	rs12552818-A	0.23	3E-6	(AA)	0.19	[0.11-0.27] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1385	chr9	104867837	104867838	rs10989824	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	9q31.1	GRIN3A	rs10989824-T	0.06	7E-6	(EA-glucose response)	5.85	[3.3-8.4] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1385	chr9	104944754	104944755	rs320209	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	9q31.1	intergenic	rs320209-?	0.068	4E-7	(clozapine-glucose)			Affymetrix [492900]	N
1389	chr9	105442116	105442117	rs2210533	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q31.1	CYLC2	rs2210533-A	0.11	7E-6	(Weight change )	0.03	[NR] kg/y increase	Illumina [899892]	N
1389	chr9	105502497	105502498	rs10990268	22889924	Scharf JM	2012-08-14	Mol Psychiatry	Genome-wide association study of Tourette's syndrome.	Tourette syndrome	778 European ancestry cases, 4,414 European ancestry controls, 242 Ashkenazi Jewish cases, 354 Ashkenazi Jewish controls, 265 French Canadian founder cases, 196 French Canadian founder controls	211 Latin American cases, 285 Latin American controls	9q31.1	intergenic	rs10990268-C	0.12	5E-6		1.29	[NR]	Illumina [484295]	N
1390	chr9	105573036	105573037	rs7848024	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	9q31.1	CYLC2	rs7848024-A	0.27	5E-6		1.19	[NR]	Illumina [7659573] (imputed)	N
1391	chr9	105735194	105735195	rs1342899	21659360	Wade R	2011-06-09	Haematologica	Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.	Response to antineoplastic agents	356 European ancestry cases	380 European ancestry cases	9q31.1	intergenic	rs1342899-?	NR	8E-7		3.13	[1.85-5.26]	Illumina [326385]	N
1393	chr9	106024219	106024220	rs16922670	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis in Alzheimer's disease	1,039 European ancestry cases with psychosis, 610 European ancestry cases without psychosis, 260 European, African American and Native American ancestry cases with psychosis and 125 European, African American and Native American ancestry cases without psychosis from 264 families	NA	9q31.1	RP11-341A22.2	rs16922670-?	0.14	7E-6		1.63	[NR]	Illumina [1882172] (imputed)	N
1396	chr9	106369943	106369944	rs144649413	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	9q31.1	intergenic	rs144649413-A		9E-6		0.2842	unit decrease	Illumina [5767231] (imputed)	N
1399	chr9	106793725	106793726	rs1536895	21618603	Beaty TH	2011-05-26	Genet Epidemiol	Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.	Orofacial clefts (interaction)	272 European ancestry trios, 259 Asian ancestry trios, 19 African ancestry or other ancestry trios	NA	9q31.1	SMC2	rs1536895-C	0.065	3E-7	(Maternal alcohol consumption, 1df)			Illumina [~ 498000]	N
1401	chr9	107026811	107026812	rs1450679	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	9q31.1	SMC2L1	rs1450679-?		5E-7				Affymetrix, Illumina [1348798]	N
1403	chr9	107324199	107324200	rs13287980	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Gout	2,115 European ancestry cases, 67,259 European ancestry controls	1,036 European ancestry cases	9q31.1	NR	rs13287980-A	0.1271	1E-6		0.2354	[0.14-0.33] unit increase	Affymetrix, Illumina [2538056] (imputed)	N
1405	chr9	107515213	107515214	rs2274870	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	9q31.1	NIPSNAP3A	rs2274870-?		4E-6				Affymetrix, Illumina [1348798]	N
1405	chr9	107531955	107531956	rs2472476	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q31.1	NIPSNAP3B	rs2472476-G	0.267	3E-6	(GLU )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1405	chr9	107588776	107588777	rs4149311	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		9q31.1	ABCA1	rs4149311-?	0.134	9E-6			[NR]	Affymetrix, Illumina [152234]	N
1405	chr9	107589133	107589134	rs4149310	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	9q31.1	ABCA1	rs4149310-?	0.10	2E-10				Illumina [~ 2000000] (imputed)	N
1405	chr9	107594363	107594364	rs2515629	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	9q31.1	ABCA1	rs2515629-A	0.78	5E-7		0.1184	[0.072-0.165] unit increase	Affymetrix [~ 2740000] (imputed)	N
1405	chr9	107604506	107604507	rs2472448	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	9q31.1	ABCA1	rs2472448-?	NR	8E-7	(Latino)	1.82	[1.27-3.13]	Affymetrix, Illumina [NR] (imputed)	N
1406	chr9	107620834	107620835	rs9282541	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	HDL cholesterol	1,122 Mexican ancestry hypertriglyceridemia cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry hypertriglyceridemia cases, 1,054 Mexican ancestry controls	9q31.1	ABCA1, NIPSNAP3A, NIPSNAP3B	rs9282541-A	0.11	6E-26		0.37	[0.29-0.45] unit decrease	Illumina [1361436] (imputed)	N
1406	chr9	107647219	107647220	rs4149268	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	9q31.1	ABCA1	rs4149268-C	0.64	1E-10		0.82	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1406	chr9	107647654	107647655	rs3890182	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	9q31.1	ABCA1	rs3890182-G	0.88	5E-7		0.02	[0.01-0.03] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1406	chr9	107647654	107647655	rs3890182	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	HDL cholesterol	2,758 individuals	18,544 individuals	9q31.1	ABCA1	rs3890182-A	0.13	3E-10		0.1	[0.06-0.14] percentage SD decrease	Affymetrix [389878]	N
1406	chr9	107653425	107653426	rs12686004	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	HDL cholesterol	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	9q31.1	ABCA1	rs12686004-T	0.21	2E-18		0.0217	[0.017-0.027] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1406	chr9	107657069	107657070	rs3905000	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Whole-brain volume (Alzheimer's disease interaction)	434 European ancestry mild cognitive impairment cases, 245 European ancestry Alzheimer's disease cases, 284 European ancestry controls	NA	9q31.1	ABCA1	rs3905000-?	NR	9E-6		0.013	[NR] unit increase	Illumina [478011]	N
1406	chr9	107657069	107657070	rs3905000	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	9q31.1	ABCA1	rs3905000-G	0.86	9E-13		0.11	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
1406	chr9	107661741	107661742	rs2740488	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	9q31.1	ABCA1	rs2740488-A	0.76	2E-34		0.086	[0.072-0.1] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1406	chr9	107661741	107661742	rs2740488	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	9q31.1	ABCA1	rs2740488-A	0.76	2E-22		0.067	[0.053-0.081] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1406	chr9	107664300	107664301	rs1883025	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	9q31.1	ABCA1	rs1883025-T	0.25	2E-65		0.07	[NR] unit decrease	NR [NR] (imputed)	N
1406	chr9	107664300	107664301	rs1883025	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	9q31.1	ABCA1	rs1883025-T	0.25	6E-53		0.067	[NR] unit decrease	NR [NR] (imputed)	N
1406	chr9	107664300	107664301	rs1883025	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	9q31.1	ABCA1	rs1883025-T	0.19	6E-10	(HDL)	0.1	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
1406	chr9	107664300	107664301	rs1883025	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	9q31.1	ABCA1	rs1883025-T	0.25	2E-33		0.94	[0.76-1.12] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1406	chr9	107664300	107664301	rs1883025	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	9q31.1	ABCA1	rs1883025-T	0.25	3E-27		2.24	[1.77-2.71] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1406	chr9	107664300	107664301	rs1883025	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	9q31.1	ABCA1	rs1883025-T	0.26	1E-9		0.08	[0.04-0.12] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1406	chr9	107665738	107665739	rs2575876	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	9q31.1	ABCA1	rs2575876-?	NR	2E-11	(Tot-C/Est-C)	0.14	[0.1-0.18] unit decrease	Illumina [~ 7700000] (imputed)	N
1406	chr9	107677288	107677289	rs4149263	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	9q31.1	ABCA1	rs4149263-A	0.8	7E-6	(Age 20-81 years)	0.056	[0.032-0.080] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1406	chr9	107695847	107695848	rs2472493	25173106	Hysi PG	2014-08-31	Nat Genet	Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.	Intraocular pressure	7,738 Asian ancestry individuals, 27,558 European ancestry individuals	NA	9q31.1	ABCA1	rs2472493-G	NR	3E-11		0.159	[0.11-0.21] mm Hg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1406	chr9	107695847	107695848	rs2472493	25173105	Gharahkhani P	2014-08-31	Nat Genet	Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,155 European ancestry cases, 1,922 European ancestry controls	3,548 European ancestry cases, 9,496 European ancestry controls	9q31.1	ABCA1	rs2472493-G	0.44	2E-19		1.31	[NR]	Illumina [7594768] (imputed)	N
1406	chr9	107703933	107703934	rs2487032	25173107	Chen Y	2014-08-31	Nat Genet	Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.	Glaucoma (high intraocular pressure)	966 Han Chinese ancestry cases, 1,005 Han Chinese ancestry controls	1,140 Han Chinese ancestry cases, 2,237 Han Chinese ancestry controls	9q31.1	ABCA1	rs2487032-?	0.52	7E-14		1.35	[1.25-1.47]	Illumina [870261]	N
1406	chr9	107735919	107735920	rs10991437	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	9q31.1	ABCA1	rs10991437-A	0.1149	1E-8	(women)	0.0402	[0.026-0.054] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1406	chr9	107735919	107735920	rs10991437	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	9q31.1	ABCA1	rs10991437-A	0.1147	9E-9		0.0305	[0.02-0.041] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1406	chr9	107735919	107735920	rs10991437	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	9q31.1	ABCA1	rs10991437-A	0.1142	3E-8	(EA, women)	0.0399	[0.026-0.054] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1406	chr9	107735919	107735920	rs10991437	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	9q31.1	ABCA1	rs10991437-A	0.1135	1E-8	(EA)	0.0311	[0.021-0.042] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1407	chr9	107869833	107869834	rs4743805	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Behavioral disturbance or psychiatric symptoms in prion disease	Up to 170 cases	NA	9q31.1	SLC44A1	rs4743805-?	0.165	6E-6		4.51	[2.24-9.08]	Illumina [518938]	N
1412	chr9	108427061	108427062	rs1463984	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	9q31.2	TAL2	rs1463984-?	NR	3E-6	(Colorword)			Illumina [up to 563855]	N
1412	chr9	108440541	108440542	rs10120372	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	9q31.2	TAL2, FCMD, TMEM38B	rs10120372-C	0.06	4E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1413	chr9	108631949	108631950	rs9969729	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	9q31.2	intergenic	rs9969729-A	0.08	2E-6				Affymetrix [614963]	N
1413	chr9	108655095	108655096	rs4742971	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	9q31.2	TMEM38B	rs4742971-?	0.11	8E-7	(GPT (ALT))			Illumina [496032]	N
1414	chr9	108757669	108757670	rs10816359	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9q31.2	TMEM38B	rs10816359-T	0.86	2E-8		0.04	[0.024-0.056] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1415	chr9	108920219	108920220	rs10453225	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9q31.2	TMEM38B	rs10453225-G	0.68	6E-66		0.09	[0.08-0.1] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1416	chr9	108936673	108936674	rs7861820	19448621	He C	2009-05-17	Nat Genet	Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.	Menarche and menopause (age at onset)	17,438 European ancestry female individuals	NA	9q31.2	intergenic	rs7861820-C	0.48	3E-9	(age at menarche)	0.09	[0.06-0.12] years decrease	Illumina [317759]	N
1416	chr9	108967087	108967088	rs2090409	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	9q31.2	TMEM38B	rs2090409-C	0.66	2E-6	(Late pubertal growth, males)	0.11	[0.065-0.155] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1416	chr9	108967087	108967088	rs2090409	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	9q31.2	TMEM38B	rs2090409-A	0.31	2E-33		4.7	[3.92-5.48] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1416	chr9	108967087	108967088	rs2090409	19448620	Perry JR	2009-05-17	Nat Genet	Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.	Menarche (age at onset)	17,510 European ancestry female individuals	NA	9q31.2	ZNF462, SLC44A1, FKTN, TAL2, FSD1L, TMEM38B	rs2090409-A	0.31	2E-9		0.1	[0.06-0.14] years decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1417	chr9	109060829	109060830	rs10739221	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	9q31.2	TMEM38B, RAD23B, TAL2, ZNF462, KLF4	rs10739221-T	0.24	7E-11		0.12	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
1417	chr9	109060829	109060830	rs10739221	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9q31.2	TMEM38B	rs10739221-C	0.77	4E-41		0.08	[0.068-0.092] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1419	chr9	109437967	109437968	rs3919995	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	9q31.2	ZNF462	rs3919995-A	NR	1E-7	(%LAA-950, All)	0.08	[0.035-0.125] unit decrease	Illumina [7600000] (imputed)	N
1421	chr9	109599045	109599046	rs7027110	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q31.2	ZNF462	rs7027110-A	0.23	2E-13		0.031	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1421	chr9	109632352	109632353	rs4743034	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	9q31.2	ZNF462	rs4743034-A	0.23	2E-8		5.3	[3.54-7.06] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1421	chr9	109676892	109676893	rs1858231	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)	119 Japanese ancestry cases, 105 Japanese ancestry controls	NA	9q31.2	ZNF462	rs1858231-C	0.22	2E-6	(Allelic)	2.71	[1.79-4.12]	Illumina [555600]	N
1425	chr9	110125810	110125811	rs817858	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Body mass index	1,780 Filipino ancestry females	NA	9q31.2	RAD23B	rs817858-G	0.13	7E-6		0.04	[0.02-0.06] unit increase	Affymetrix [2073674] (imputed)	N
1425	chr9	110156299	110156300	rs817826	23023329	Xu J	2012-09-30	Nat Genet	Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 and 19q13.4.	Prostate cancer	1,417 Han Chinese ancestry cases, 1,008 Han Chinese ancestry controls	3,067 Han Chinese ancestry cases, 7,926 Han Chinese ancestry controls	9q31.2	KLF4, RAD23B	rs817826-C	0.084	5E-14		1.41	[1.29-1.54]	Illumina [587294]	N
1426	chr9	110306114	110306115	rs10759243	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	9q31.2	intergenic	rs10759243-A	0.39	1E-8		1.06	[1.03-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1427	chr9	110383582	110383583	rs1110403	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Percent mammographic density	7,916 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	9q31.2	intergenic	rs1110403-A	0.58	7E-6				Affymetrix, Illumina [~ 2500000] (imputed)	N
1428	chr9	110536931	110536932	rs1467311	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	9q31.2	intergenic	rs1467311-G	0.23	1E-6		0.04	[0.020-0.060] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
1429	chr9	110698715	110698716	rs7041168	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	9q31.2	KLF4	rs7041168-G	0.47	6E-7		0.081	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
1430	chr9	110817019	110817020	rs10979182	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	9q31.2	KLF4	rs10979182-A	NR	3E-6		1.149	[1.084-1.218]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1430	chr9	110872306	110872307	rs7042864	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	9q31.2	intergenic	rs7042864-?	NR	6E-6	(CB-PWV)			Affymetrix [70897]	N
1430	chr9	110873779	110873780	rs60634637	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	9q31.2	KLF4, ACTL7B	rs60634637-T	NR	2E-8		0.0942	[NR] unit increase	Illumina [11892802] (imputed)	N
1431	chr9	110888477	110888478	rs865686	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	9q31.2	intergenic	rs865686-T	0.62	1E-34		1.12	[1.1-1.14]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1431	chr9	110888477	110888478	rs865686	21263130	Fletcher O	2011-01-24	J Natl Cancer Inst	Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.	Breast cancer	2,839 European ancestry cases, 3,507 European ancestry controls	9,041 European ancestry cases, 8,980 European ancestry controls	9q31.2	KLF4, ACTL7A, RAD23B	rs865686-T	0.61	2E-10		1.12	[1.09-1.18]	Illumina [~ 296114]	N
1435	chr9	111455574	111455575	rs10512385	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		9q31.3	ACTL7B	rs10512385-G	0.14	6E-6		2.58	[1.71-3.89]	Illumina [518577]	N
1437	chr9	111799562	111799563	rs643410	23382809	Xu C	2013-01-29	PLoS One	BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies.	Schizophrenia (negative symptoms)	1,774 European ancestry cases, 2,726 European ancestry controls		9q31.3	C9orf5	rs643410-A	0.05	1E-6		1.6	[NR]	Affymetrix [729454]	N
1438	chr9	111809294	111809295	rs11792861	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9q31.3	TMEM245	rs11792861-A	0.7	2E-11		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1438	chr9	111854245	111854246	rs523340	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	9q31.3	C9orf5	rs523340-A	0.10	2E-6	(simple RT)	0.21	[0.13-0.29] unit increase	Illumina [~ 610000]	N
1438	chr9	111932341	111932342	rs6477694	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q31.3	EPB41L4B	rs6477694-C	0.371	2E-8		0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1438	chr9	111932341	111932342	rs6477694	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q31.3	EPB41L4B	rs6477694-C	0.365	3E-8	(EA)	0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1438	chr9	111932341	111932342	rs6477694	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q31.3	EPB41L4B	rs6477694-C	0.364	3E-7	(EA, women)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1440	chr9	112128997	112128998	rs114356520	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	9q31.3	intergenic	rs114356520-A	0.001	1E-6		33.99	[3.51-328.89]	Illumina [1556551]	N
1441	chr9	112299321	112299322	rs7048146	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	9q31.3	intergenic	rs7048146-T	0.3898	6E-6		0.2753	[0.16-0.39] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1441	chr9	112299321	112299322	rs7048146	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	9q31.3	intergenic	rs7048146-T	0.3891	6E-7	(Ordinal)	0.2933	[0.18-0.41] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1443	chr9	112521125	112521126	rs4978848	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	9q31.3	PALM2	rs4978848-G	0.495	3E-6	(DSST)	3.6321	[2.12-5.15] unit decrease	Affymetrix [> 371951] (imputed)	N
1443	chr9	112526288	112526289	rs1327796	22456796	Imamura M	2012-03-28	Hum Mol Genet	A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.	Type 2 diabetes	4,470 Japanese ancestry cases, 3,071 Japanese ancestry controls	7,605 Japanese ancestry cases, 3,534 Japanese ancestry controls	9q31.3	PALM2, AKAP2	rs1327796-?	0.235	3E-6		1.13	[1.08-1.20]	NR [2229890] (imputed)	N
1444	chr9	112596910	112596911	rs2025875	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q31.3	PALM2AKAP2	rs2025875-G	0.157	8E-6	(TC )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1446	chr9	112891634	112891635	rs17806457	24281739	Boardman JD	2013-11-27	Demography	Is the gene-environment interaction paradigm relevant to genome-wide studies? The case of education and body mass index.	Body mass index (education interaction)	816 non-college graduate individuals, 1,061 college graduate individuals	NA	9q31.3	NR	rs17806457-?	NR	6E-6				Affymetrix [260402]	N
1446	chr9	112945404	112945405	rs7032940	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	9q31.3	PALM2-AKAP2	rs7032940-A	0.21	3E-6		1.32	[NR] cm increase	Affymetrix [334546]	N
1448	chr9	113131162	113131163	rs1327533	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	9q31.3	SVEP1	rs1327533-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1448	chr9	113197262	113197263	rs7042161	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	9q31.3	NR	rs7042161-?	0.65	6E-6		1.15	[NR]	Affymetrix [1769948] (imputed)	N
1449	chr9	113300834	113300835	rs1889321	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	9q31.3	MUSK	rs1889321	NR	7E-7	(FEV1 decline in non-asthmatics)	0.1501	[0.091-0.209] unit decrease	Illumina [~ 2500000] (imputed)	N
1450	chr9	113419758	113419759	rs10980508	23386860	Pasquale LR	2013-01-30	Front Genet	Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.	Type 2 diabetes (dietary heme iron intake interaction)	1,806 European ancestry cases, 2,965 European ancestry controls	NA	9q31.3	SVEP1, MUSK	rs10980508-?	NR	1E-6		0.64	[NR] unit increase	Affymetrix [681770]	N
1452	chr9	113662680	113662681	rs1007000	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	9q31.3	LPAR1	rs1007000-T	0.22	5E-12		0.07	[0.031-0.109] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
1453	chr9	113792705	113792706	rs3739707	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	9q31.3	LPAR1	rs3739707-A	0.247	4E-12		0.024	[0.016-0.032] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1453	chr9	113807081	113807082	rs1468758	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q31.3	LPAR1	rs1468758-T	0.25	1E-9		0.026	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1454	chr9	113915904	113915905	rs10980800	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	9q31.3	intergenic	rs10980800-C	0.769	1E-14	(EA)	0.044	[0.032-0.056] unit increase	Illumina [NR] (imputed)	N
1454	chr9	113915904	113915905	rs10980800	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	9q31.3	OR2K2, EDG2	rs10980800-T		2E-22	(Monocytes)	0.042	[0.034-0.050] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
1454	chr9	113920598	113920599	rs12346772	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	9q31.3	NR	rs12346772-?	NR	1E-10		0.0226	[0.016-0.029] unit decrease	Illumina [NR] (imputed)	N
1455	chr9	114050356	114050357	rs10980854	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9q31.3	ZNF483, OR2K2	rs10980854-A	0.06	1E-8		0.06	[0.038-0.082] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1456	chr9	114279911	114279912	rs10980921	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	9q31.3	ZNF483, OR2K2	rs10980921-C	0.09	2E-23		0.09	[0.072-0.108] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1456	chr9	114293633	114293634	rs10980926	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	9q31.3	ZNF483	rs10980926-G	0.65	3E-6	(Pubertal growth,males)	0.1	[0.059-0.141] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1456	chr9	114293633	114293634	rs10980926	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	9q31.3	ZNF483	rs10980926-G	0.65	2E-7	(Pubertal growth)	0.07	[0.043-0.097] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1456	chr9	114293633	114293634	rs10980926	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	9q31.3	ZNF483	rs10980926-A	0.36	4E-11		2.5	[1.72-3.28] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1457	chr9	114301584	114301585	rs10441737	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	9q31.3	ZNF483	rs10441737-T	.64	4E-15	(EA)	2.777	[4.31-5.94] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1457	chr9	114303678	114303679	rs7873730	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	9q31.3	ZNF483	rs7873730-A	0.88	2E-6	(AA)	6.82	[4.00-9.64] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1457	chr9	114348616	114348617	rs2273788	23314186	Crosslin DR	2013-03-03	Hum Mol Genet	Genetic variation associated with circulating monocyte count in the eMERGE Network.	Monocyte count	9,849 European ancestry individuals, 894 African ancestry individuals, 271 individuals	NA	9q31.3	PTGR1	rs2273788-A	0.26	5E-7		0.16	unit increase	Illumina [NR]	N
1460	chr9	114798036	114798037	rs10125054	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q31.3	SUSD1	rs10125054-A	0.302	4E-6	(Sedentary activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1461	chr9	114823120	114823121	rs4979078	23650146	Tang W	2013-05-05	Genet Epidemiol	A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Venous thromboembolism	1,618 European ancestry cases, 42,881 European ancestry controls	3,231 European ancestry cases, 3,536 European ancestry controls	9q31.3	SUSD1	rs4979078-C	0.86	3E-6		1.21	[1.11-1.30]	Affymetrix, Illumina [2543885] (imputed)	N
1461	chr9	114850189	114850190	rs2782931	17362836	Schymick JC	2007-02-20	Lancet Neurol	Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.	Amyotrophic lateral sclerosis	276 European ancestry cases, 271 European ancestry controls	NA	9q31.3	SUSD1	rs2782931-?	NR	6E-6		1.11	[0.91-1.43]	Illumina [549062]	N
1467	chr9	115687734	115687735	rs10817408	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q32	NR	rs10817408-C	0.149506685242978	6E-6	(IGP75)	0.2271	[0.13-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
1467	chr9	115687734	115687735	rs10817408	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q32	NR	rs10817408-C	0.149460512683578	7E-6	(IGP40)	0.2234	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
1467	chr9	115687734	115687735	rs10817408	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q32	NR	rs10817408-C	0.149316170753455	6E-6	(IGP69)	0.2277	[0.13-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
1469	chr9	115997248	115997249	rs6477998	23303382	Hong KW	2013-01-10	J Hum Genet	Genome-wide association study of serum albumin:globulin ratio in Korean populations.	Hematology traits	4,637 East Asian ancestry individuals	4,205 East Asian ancestry individuals	9q32	SLC31A1	rs6477998-C	0.467	8E-6	(ALB/GLB)	0.013	[0.0071-0.0189] unit increase	Affymetrix [290659]	N
1471	chr9	116131694	116131695	rs10121150	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	9q32	BSPRY	rs10121150-A	0.786	3E-8		0.143	[0.078-0.208] unit decrease	Illumina [6391392] (imputed)	N
1471	chr9	116151190	116151191	rs1805313	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	9q32	ALAD	rs1805313-A	0.683	4E-14		0.142	[0.089-0.195] unit increase	Illumina [6391392] (imputed)	N
1471	chr9	116151526	116151527	rs8177812	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	9q32	ALAD	rs8177812-A	0.122	2E-6	(conditional on rs1805313)	0.131	[0.041-0.221] unit increase	Illumina [6391392] (imputed)	N
1476	chr9	116890162	116890163	rs2839874	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	9q32	COL27A1	rs2839874-C	0.73	6E-6	(Age 8)	0.13	[0.071-0.189] unit increase	Illumina [2293137] (imputed)	N
1477	chr9	116991070	116991071	rs7868992	22889924	Scharf JM	2012-08-14	Mol Psychiatry	Genome-wide association study of Tourette's syndrome.	Tourette syndrome	778 European ancestry cases, 4,414 European ancestry controls, 242 Ashkenazi Jewish cases, 354 Ashkenazi Jewish controls, 265 French Canadian founder cases, 196 French Canadian founder controls	211 Latin American cases, 285 Latin American controls	9q32	KIF12, ORM1, COL27A1	rs7868992-G	0.28	3E-8		1.29	[NR]	Illumina [484295]	N
1478	chr9	117049890	117049891	rs946053	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	9q32	COL27A1	rs946053-T	0.52	2E-7		4.4	[2.83-5.97] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1478	chr9	117083802	117083803	rs150611042	24357727	Rocanin-Arjo A	2013-12-19	Blood	A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.	Thrombin generation potential phenotypes	714 European ancestry venous thrombosis cases, 1,253 European ancestry individuals	714 European ancestry venous thrombosis cases, 543 European ancestry individuals	9q32	ORM1	rs150611042-A	0.082	8E-6	(ETP)	0.038	[0.020-0.056] nM/min decrease	NR [6652054] (imputed)	N
1478	chr9	117083802	117083803	rs150611042	24357727	Rocanin-Arjo A	2013-12-19	Blood	A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.	Thrombin generation potential phenotypes	714 European ancestry venous thrombosis cases, 1,253 European ancestry individuals	714 European ancestry venous thrombosis cases, 543 European ancestry individuals	9q32	ORM1	rs150611042-A	0.082	7E-15	(Lag Time)	0.354	[0.27-0.44] min decrease	NR [6652054] (imputed)	N
1478	chr9	117088063	117088064	rs10982156	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	9q32	ORM1	rs10982156-T	0.939	2E-10	(FX)	0.456	[0.31-0.6] unit increase	Illumina [NR] (imputed)	N
1479	chr9	117240905	117240906	rs79509430	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q32	DFNB31	rs79509430-A	0.068	2E-8	(MCP1 )	0.06	[NR] pg/mL increase	Illumina [899892]	N
1479	chr9	117260833	117260834	rs10982256	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	9q32	NR	rs10982256-?	NR	9E-6	(addtive)			Affymetrix [NR]	N
1481	chr9	117545665	117545666	rs6478106	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	9q32	LOC100129633, LOC645266, TNFSF8, TNFSF15	rs6478106-T	NR	5E-46		1.73	[1.60-1.86]	Illumina [4929034] (imputed)	N
1481	chr9	117549326	117549327	rs7853287	24676358	Viktorin A	2014-03-27	Hum Mol Genet	IgA measurements in over 12 000 Swedish twins reveal sex differential heritability and regulatory locus near CD30L.	Serum IgA levels	9,617 European ancestry individuals	2,785 European ancestry individuals	9q32	CD30L	rs7853287-A	0.2174	3E-10		0.115	[0.073-0.157] g/l increase	Illumina [2226980] (imputed)	N
1481	chr9	117552884	117552885	rs3810936	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	9q32	TNFSF8, TNFSF15	rs3810936-C	0.682	1E-15		1.21	[1.15-1.27]	Affymetrix, Illumina [953241] (imputed)	N
1481	chr9	117553248	117553249	rs4246905	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q32	NR	rs4246905-G	0.72	1E-15	(EA)	1.1206568		Affymetrix, Illumina [~ 9000000] (imputed)	N
1481	chr9	117553248	117553249	rs4246905	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q32	NR	rs4246905-A	0.72	7E-23	(EA)	1.1446497		Affymetrix, Illumina [~ 9000000] (imputed)	N
1481	chr9	117553248	117553249	rs4246905	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	9q32	TNC, TNFSF8, TNFSF15	rs4246905-C	0.709	3E-32		1.142	[1.106-1.178]	Affymetrix, Illumina [1230000] (imputed)	N
1481	chr9	117553248	117553249	rs4246905	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	9q32	TNFSF8, TNFSF15	rs4246905-C	0.71	6E-12		1.1	[1.05-1.15]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1481	chr9	117558702	117558703	rs6478108	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	9q32	TNFSF15	rs6478108-A	0.46	3E-21		1.37	[1.28-1.46]	Illumina [491883]	N
1481	chr9	117564874	117564875	rs4366152	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	9q32	TNFSF15	rs4366152-A	0.483	9E-42		1.3333333	[NR]	Illumina [4577171] (imputed)	N
1481	chr9	117566439	117566440	rs4263839	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	9q32	TNFSF15	rs4263839-G	0.68	3E-10		1.22	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1481	chr9	117567012	117567013	rs4979462	23000144	Nakamura M	2012-09-18	Am J Hum Genet	Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.	Primary biliary cirrhosis	487 Japanese ancestry cases, 476 Japanese ancestry controls	787 Japanese ancestry cases, 615 Japanese ancestry controls	9q32	TNFSF15	rs4979462-T	0.46	3E-14		1.56	[1.39-1.76]	Affymetrix [421245]	N
1481	chr9	117568765	117568766	rs6478109	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	9q32	TNFSF15	rs6478109-?	0.69	3E-8		1.36	[1.22-1.52]	Illumina [NR]	N
1481	chr9	117569045	117569046	rs7848647	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q32	NR	rs7848647-?	NR	3E-35	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1482	chr9	117580913	117580914	rs7869487	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q32	NR	rs7869487-?	NR	7E-19	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1482	chr9	117592637	117592638	rs2006996	21699788	Okada Y	2011-06-20	Gastroenterology	HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.	Ulcerative colitis or Crohn's disease	372 Japanese ancestry Crohn's disease cases, 372 Japanese ancestry ulcerative colitis cases	607 Japanese ancestry Crohn's disease cases, 376 Japanese ancestry ulcerative colitis cases	9q32	TNFSF15	rs2006996-T	0.47	4E-13	(UC vs. CD)	1.67	[1.47-1.92]	Illumina [461368]	N
1482	chr9	117605069	117605070	rs11554257	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q32	NR	rs11554257-G	0.1294	4E-21	(EA)	1.1484206	[1.12-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1482	chr9	117605069	117605070	rs11554257	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	9q32	TNFSF15	rs11554257-G	NR	1E-6	(Analysis III)	1.82	[NR]	Illumina [313720]	N
1482	chr9	117643361	117643362	rs13300483	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q32	NR	rs13300483-A	0.2394	6E-16	(EA)	1.0976037	[1.08-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1483	chr9	117778354	117778355	rs1888221	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	9q33.1	intergenic	rs1888221-?		3E-6	(M)	19.08	[10.65-27.51] unit increase	Illumina [693128]	N
1483	chr9	117830811	117830812	rs7847271	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	9q33.1	TNC	rs7847271-?	NR	4E-6	(rs10934853)	1.4925	[1.27-1.79]	Affymetrix, Illumina [1117531] (imputed)	N
1485	chr9	118050413	118050414	rs7853844	23180869	Wu C	2012-11-24	Gut	Genome-wide association study of survival in patients with pancreatic adenocarcinoma.	Pancreatic cancer	642 European ancestry cases	363 Chinese ancestry cases	9q33.1	intergenic	rs7853844-A	0.17	2E-6		1.43	[1.23-1.65]	Illumina [2731086] (imputed)	N
1486	chr9	118143932	118143933	rs10817758	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	9q33.1	DEC1	rs10817758-T	0.367	1E-8		1.13	[NR]	Illumina [4577171] (imputed)	N
1486	chr9	118202715	118202716	rs9409154	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	9q33.1	intergenic	rs9409154-C	0.12	2E-6	(Women)			Affymetrix, Illumina [2500000] (imputed)	N
1486	chr9	118209070	118209071	rs7847231	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	9q33.1	DEC1	rs7847231-A	0.62	7E-6		0.02	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1488	chr9	118424986	118424987	rs12006166	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	9q33.1	intergenic	rs12006166-T	0.16	9E-7		1.08	[1.05-1.12]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1490	chr9	118658715	118658716	rs10982990	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	9q33.1	C9orf27	rs10982990-?		2E-6				Illumina [859311]	N
1492	chr9	118956667	118956668	rs436582	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	9q33.1	PAPPA	rs436582-?		3E-6	(EA, Inherited)	2.64	[1.73-4.03]	Illumina [2421290] (imputed)	N
1492	chr9	118964954	118964955	rs1003858	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	9q33.1	NR	rs1003858-?	NR	2E-7	(AA)	1.5177	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1493	chr9	119122341	119122342	rs751543	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q33.1	PAPPA	rs751543-T	0.72	7E-10		0.026	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1493	chr9	119134795	119134796	rs7869550	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	9q33.1	PAPPA	rs7869550-G	0.24	1E-6		0.33	[0.45-0.82] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
1494	chr9	119181793	119181794	rs17303101	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	9q33.1	intergenic	rs17303101-A	0.28	4E-7		1.07	[1.04-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1494	chr9	119249338	119249339	rs7852872	22504421	Bis JC	2012-04-15	Nat Genet	Common variants at 12q14 and 12q24 are associated with hippocampal volume.	Hippocampal volume	9,232 European ancestry individuals	2,318 European ancestry individuals	9q33.1	ASTN2	rs7852872-C	0.62	1E-7		47.7	[30.06-65.34] mm3 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1494	chr9	119252628	119252629	rs6478241	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	9q33.1	ASTN2	rs6478241-A	0.38	1E-7		1.12	[1.08-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1494	chr9	119252628	119252629	rs6478241	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	9q33.1	ASTN2	rs6478241-A	0.38	1E-9		1.16	[1.11-1.22]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1494	chr9	119252628	119252629	rs6478241	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	9q33.1	ASTN2	rs6478241-A	0.38	4E-8		1.16	[1.10-1.23]	Illumina [1246388] (imputed)	N
1495	chr9	119314216	119314217	rs13290997	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	9q33.1	ASTN2	rs13290997-A	NR	5E-7	(FEV1, Pack-years)			NR [~ 2500000] (imputed)	N
1495	chr9	119333682	119333683	rs10983238	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	9q33.1	ASTN2	rs10983238-?	NR	1E-7				Affymetrix [504219]	N
1497	chr9	119624674	119624675	rs943306	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	9q33.1	ASTN2	rs943306-T	0.4	1E-6		0.073	unit increase	Illumina [~ 6300000] (imputed)	N
1498	chr9	119798884	119798885	rs7036846	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	9q33.1	ASTN2	rs7036846-?		9E-6	(AIRg)	10.86	[6.1-15.62] unit increase	Illumina [693128]	N
1499	chr9	119839327	119839328	rs16934284	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q33.1	ASTN2	rs16934284-G	0.085	2E-6	(AST )	0.03	[NR] U/L increase	Illumina [899892]	N
1499	chr9	119925094	119925095	rs6478282	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	9q33.1	ASTN2	rs6478282-A	NR	6E-6		0.101	[0.058-0.144] unit increase	Affymetrix [736996]	N
1499	chr9	119926425	119926426	rs4838255	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	9q33.1	ASTN2	rs4838255-?	0.139	3E-7	(perphenazine-triglycerides)			Affymetrix [492900]	N
1501	chr9	120137757	120137758	rs2226006	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (fairness)	9,617 European ancestry individuals	NA	9q33.1	ASTN2	rs2226006-T	NR	6E-6		0.111	[0.062-0.160] unit decrease	Illumina [628922]	N
1503	chr9	120378482	120378483	rs1928295	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q33.1	TLR4	rs1928295-T	0.55	4E-10		0.018	[0.013-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1503	chr9	120378482	120378483	rs1928295	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q33.1	TLR4	rs1928295-T	0.549	3E-11	(EA, women)	0.026	[0.018-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1503	chr9	120378482	120378483	rs1928295	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q33.1	TLR4	rs1928295-T	0.548	8E-10	(EA)	0.019	[0.013-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1504	chr9	120473833	120473834	rs5030717	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	8,631 European ancestry individuals	NA	9q33.1	TLR4	rs5030717-A	0.887	1E-6		0.1	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1504	chr9	120559010	120559011	rs10115586	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q33.1	NR	rs10115586-C	0.70273622340899	5E-7	(IGP7)	0.1676	[0.1-0.23] unit decrease	Illumina [~ 2500000] (imputed)	N
1506	chr9	120795989	120795990	rs2416604	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q33.1	TLR4	rs2416604-A	0.43	3E-6	(Vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1508	chr9	121031028	121031029	rs876347	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	9q33.1	intergenic	rs876347-?	NR	2E-6	(SAS)			Affymetrix [492000]	N
1509	chr9	121125745	121125746	rs10429475	25057126	Ramos YF	2014-07-23	J Med Genet	Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.	Osteoarthritis biomarkers	up to 4,654 European ancestry individuals	964 European ancestry individuals	9q33.1	DBC1, TLR4	rs10429475-T	0.454	1E-6	(sCOMP)	0.11	[NR] unit increase	Illumina [up to 1961964] (imputed)	N
1510	chr9	121346416	121346417	rs1572299	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	9q33.1	intergenic	rs1572299-A	NR	4E-6		1.08	[NR]	Illumina [314868]	N
1510	chr9	121359285	121359286	rs11789399	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	9q33.1	ASTN2	rs11789399-?	NR	6E-9		1.2935	[NR]	Affymetrix [722112]	N
1511	chr9	121431188	121431189	rs74308953	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	9q33.1	intergenic	rs74308953-A	0.12	2E-10		4.6	[NR]	Affymetrix [4893794] (imputed)	N
1515	chr9	121984552	121984553	rs10984447	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	9q33.1	DBC1	rs10984447-A	0.77	8E-6		1.17	[1.09-1.25]	Affymetrix [334923]	N
1516	chr9	122059708	122059709	rs4837628	20070850	Edwards TL	2010-01-13	Ann Hum Genet	Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.	Parkinson's disease	1,752 European ancestry cases, 1,745 European ancestry controls	NA	9q33.1	DBC1	rs4837628-A	NR	1E-6		1.27	[1.15-1.39]	Illumina [495715] (imputed)	N
1517	chr9	122199202	122199203	rs1331623	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Height	2,754 Bangladeshi ancestry females, 2,590 Bangladeshi ancestry males	NA	9q33.1	DBC1, MIR147A	rs1331623-A	0.337	8E-7	(females)	0.008	[0.0041-0.0119] m increase	Illumina [1208102] (imputed)	N
1517	chr9	122258576	122258577	rs10984561	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	9q33.1	intergenic	rs10984561-?	NR	3E-6	(FEV1/FVC decline in asthmatics)	0.8452	[0.49-1.2] unit decrease	Illumina [~ 2500000] (imputed)	N
1519	chr9	122549085	122549086	rs1360695	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q33.1	NR	rs1360695-A	NR	3E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1521	chr9	122781253	122781254	rs2416745	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	9q33.2	intergenic	rs2416745-T	0.1766	1E-6		0.14	[0.084-0.2] unit increase	Affymetrix, Illumina [2403520] (imputed)	N
1522	chr9	122861296	122861297	rs16909449	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	9q33.2	MIRN147, CDK5RAP2, MEGF9	rs16909449-C	0.25	1E-6	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
1523	chr9	123056636	123056637	rs4837752	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	9q33.2	intergenic	rs4837752-?	NR	6E-6	(SAS)			Affymetrix [492000]	N
1524	chr9	123162665	123162666	rs12379034	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	9q33.2	CDK5RAP2	rs12379034-C	0.25	1E-16	(ACPA+ cases vs. all controls)	1.489	[NR]	Affymetrix [3441843] (imputed)	N
1524	chr9	123162665	123162666	rs12379034	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	9q33.2	CDK5RAP2	rs12379034-C	0.25	1E-12	(all cases vs. all controls)	1.336	[NR]	Affymetrix [3441843] (imputed)	N
1528	chr9	123636120	123636121	rs10985070	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	9q33.2	TRAF1, C5	rs10985070-C	0.45	5E-11		1.08	[1.06-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1528	chr9	123636120	123636121	rs10985070	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	9q33.2	TRAF1, C5	rs10985070-C	0.42	4E-9	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1528	chr9	123640499	123640500	rs1953126	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	9q33.2	TRAF1	rs1953126-T	NR	4E-11				Illumina [472854]	N
1528	chr9	123651300	123651301	rs2072438	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	952 Han Chinese ancestry cases, 943 Han Chinese ancestry controls	5,539 European ancestry cases, 20,169 European ancestry controls	9q33.2	TRAF1	rs2072438-T		3E-9		1.142	[NR]	Affymetrix [1497047] (imputed)	N
1528	chr9	123652897	123652898	rs881375	19503088	Gregersen PK	2009-06-07	Nat Genet	REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.	Rheumatoid arthritis	2,418 European ancestry cases, 4,504 European ancestry controls	2,604 cases, 2,882 controls	9q33.2	TRAF1, C5	rs881375-?	NR	4E-8				Illumina [278502]	N
1528	chr9	123690238	123690239	rs3761847	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	9q33.2	TRAF1, C5	rs3761847-G	0.43	2E-7		1.13	[1.08-1.18]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1528	chr9	123690238	123690239	rs3761847	17804836	Plenge RM	2007-09-05	N Engl J Med	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.	Rheumatoid arthritis	1,522 European ancestry cases, 1,850 European ancestry controls	1,053 European ancestry cases, 1,858 European ancestry controls	9q33.2	TRAF1-C5	rs3761847-G	0.41	4E-14		1.32	[1.23-1.42]	Illumina [297086]	N
1530	chr9	123914873	123914874	rs9408926	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	9q33.2	CEP110	rs9408926-A		4E-8	(AA)			Illumina [NR]	N
1530	chr9	123951916	123951917	rs9408928	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	9q33.2	RAB14	rs9408928-G		4E-9	(AA)			Illumina [NR]	N
1531	chr9	124098534	124098535	rs767770	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	9q33.2	NR	rs767770-?	NR	6E-6		1.7173	[NR]	Affymetrix [722112]	N
1534	chr9	124422402	124422403	rs7025486	20622881	Gretarsdottir S	2010-07-11	Nat Genet	Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.	Abdominal aortic aneurysm	1,292 European ancestry cases, 30,503 European ancestry controls	3,267 European ancestry cases, 7,451 European ancestry controls	9q33.2	DAB2IP	rs7025486-A	0.23	5E-10		1.21	[1.14-1.28]	Illumina [293677]	N
1534	chr9	124476012	124476013	rs35061590	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	Heart rate	455 African American individuals	NA	9q33.2	DAB2IP	rs35061590-T		9E-6		16.03	[NR] ms increase	Illumina [> 930000]	N
1535	chr9	124521259	124521260	rs3747851	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)	147 Japanese ancestry cases, 233 Japanese ancestry controls	NA	9q33.2	DAB2IP	rs3747851-T	0.176	6E-7	(Allelic model)	2.377	[1.693-3.339]	Illumina [733202]	N
1535	chr9	124549641	124549642	rs10985375	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	9q33.2	DAB2IP	rs10985375-A	0.1	2E-6	(AA-triglyceride response)	33.94	[19.81-48.07] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1535	chr9	124560852	124560853	rs10818593	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	9q33.2	DAB2IP	rs10818593-C		9E-6		0.08	[0.04-0.11] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1535	chr9	124565819	124565820	rs10760187	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	9q33.2	TTLL11, DAB2IP	rs10760187-C	0.498	5E-7	(P. gingi)	2.07	[1.55-2.76]	Affymetrix [~ 2500000] (imputed)	N
1535	chr9	124594338	124594339	rs4468007	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	9q33.2	intergenic	rs4468007-T	0.554	3E-6		0.021	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1537	chr9	124906722	124906723	rs3818638	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q33.2	NDUFA8	rs3818638-A	0.326	6E-6	(AST )	0.03	[NR] U/L increase	Illumina [899892]	N
1538	chr9	124942543	124942544	rs7856367	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	9q33.2	NR	rs7856367-?	NR	5E-6	(females)			Illumina [1211988] (imputed)	N
1543	chr9	125573029	125573030	rs16912238	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q33.2	PDCL	rs16912238-G	0.0050	5E-6	(Weight )	0.03	[NR] kg increase	Illumina [899892]	N
1547	chr9	126105290	126105291	rs10760279	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q33.3	CRB2	rs10760279-T	0.412	7E-8		0.022	[0.014-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1547	chr9	126105290	126105291	rs10760279	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q33.3	CRB2	rs10760279-T	0.412	2E-7	(EA)	0.022	[0.014-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1547	chr9	126110305	126110306	rs1970584	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	9q33.3	intergenic	rs1970584-A	0.06	5E-7		0.048	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1547	chr9	126154353	126154354	rs872863	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		9q33.3	DENND1A	rs872863-?	0.082	2E-11			[NR]	Affymetrix, Illumina [152234]	N
1548	chr9	126352217	126352218	rs7852296	20691247	Verweij KJ	2010-08-04	Biol Psychol	A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.	Personality dimensions	5,117 European ancestry individuals from 2567 families	NA	9q33.3	DENND1A	rs7852296-A	0.09	9E-6	(Persistence)	0.17	[NR] unit decrease	Affymetrix, Illumina [1252387] (imputed)	N
1549	chr9	126446777	126446778	rs10818854	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in non-asthmatics	6,025 European ancestry children, 567 children,  6,334 European ancestry adult individuals, 2,050 adult individuals	NA	9q33.3	DENND1A	rs10818854-A	0.04	2E-7	(Children)			Illumina [up to 527642]	N
1549	chr9	126446777	126446778	rs10818854	21151128	Chen ZJ	2010-12-12	Nat Genet	Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.	Polycystic ovary syndrome	744 Han Chinese ancestry cases, 895 Han Chinese ancestry controls	3,338 Han Chinese ancestry cases, 5,792 Han Chinese ancestry controls	9q33.3	DENND1A	rs10818854-A	0.09	9E-18		1.51	[1.37-1.65]	Affymetrix [611633]	N
1550	chr9	126525211	126525212	rs2479106	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	9q33.3	NR	rs2479106-G	NR	5E-10		1.35	[NR]	Affymetrix [NR] (imputed)	N
1550	chr9	126525211	126525212	rs2479106	21151128	Chen ZJ	2010-12-12	Nat Genet	Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.	Polycystic ovary syndrome	744 Han Chinese ancestry cases, 895 Han Chinese ancestry controls	3,338 Han Chinese ancestry cases, 5,792 Han Chinese ancestry controls	9q33.3	DENND1A	rs2479106-G	0.22	8E-19		1.34	[1.26-1.43]	Affymetrix [611633]	N
1550	chr9	126555987	126555988	rs183433444	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	9q33.3	NR	rs183433444-?		7E-7	(PCB74)	1.36	[0.83-1.89] unit decrease	Illumina [8736858] (imputed)	N
1551	chr9	126695769	126695770	rs10818894	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)	64 Japanese ancestry cases, 27 Japanese ancestry controls	NA	9q33.3	DENND1A	rs10818894-G	0.70	2E-6	(Dominant)	10.4	[3.56-30.1]	Illumina [555600]	N
1552	chr9	126783846	126783847	rs2075064	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist circumference	Up to 23,564 African American individuals	Up to 10,027 African American individuals	9q33.3	LHX2, DENND1A	rs2075064-T	0.13	2E-8	(BMI_pooled)	0.07	[0.05-0.09] unit decrease	Affymetrix, Illumina [3200000] (imputed)	N
1553	chr9	126926106	126926107	rs2807580	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	9q33.3	NEK6	rs2807580-?	NR	3E-6	(Digit Symbol)			Illumina [up to 563855]	N
1553	chr9	126953639	126953640	rs111873027	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	9q33.3	NR	rs111873027-?	NR	2E-6	(EA)	0.9778	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1556	chr9	127327762	127327763	rs10114038	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Follicule stimulating hormone	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	9q33.3	NR		0.18	2E-6	(FSH)			Illumina [709211]	N
1567	chr9	128831096	128831097	rs4838320	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	9q33.3	intergenic	rs4838320-T	NR	9E-6		0.197	[0.11-0.28] unit increase	Illumina [628922]	N
1568	chr9	128857850	128857851	rs10987149	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (everolimus)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	9q33.3	PBX3	rs10987149-?	NR	5E-6		0.28	[NR] unit increase	Affymetrix, Illumina [1348798]	N
1568	chr9	128929022	128929023	rs888219	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	9q33.3	intergenic	rs888219-?	NR	2E-7	(risperidone)	11.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
1570	chr9	129194772	129194773	rs758970	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q33.3	FAM125B	rs758970-A	0.309	6E-7	(Total T4 )	0.05	[NR] ug/dL increase	Illumina [899892]	N
1571	chr9	129246486	129246487	rs2286885	24518671	Nag A	2014-02-11	Hum Mol Genet	A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.	Intraocular pressure	2,774 European ancestry individuals	22,789 European ancestry and Erasmus Rucphen individuals	9q33.3	FAM125B	rs2286885-A	0.57	6E-6		0.12	[0.07-0.18] mmHg increase	Illumina [~ 1870000]	N
1572	chr9	129402566	129402567	rs12342373	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	9q33.3	LMX1B	rs12342373-A	0.09	3E-6	(Age 8)	0.19	[0.11-0.27] unit increase	Illumina [2293137] (imputed)	N
1572	chr9	129460913	129460914	rs10733682	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q33.3	LMX1B	rs10733682-A	0.478	2E-8	(EA)	0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1572	chr9	129460913	129460914	rs10733682	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q33.3	LMX1B	rs10733682-A	0.477	2E-8	(EA, women)	0.023	[0.015-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1572	chr9	129460913	129460914	rs10733682	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q33.3	LMX1B	rs10733682-A	0.475	2E-10		0.019	[0.013-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1572	chr9	129465324	129465325	rs867559	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	9q33.3	LMX1B	rs867559-G	0.22	1E-7				Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1574	chr9	129740282	129740283	rs11790388	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q33.3	NR	rs11790388-G	NR	2E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1577	chr9	130033546	130033547	rs913351	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	9q33.3	GARNL3	rs913351-G	0.9798	9E-6	(Ordinal I)	0.811	[0.45-1.17] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1577	chr9	130107963	130107964	rs4130590	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	9q33.3	NR	rs4130590-?	0.56	3E-6		1.16	[NR]	Affymetrix [1769948] (imputed)	N
1577	chr9	130110410	130110411	rs7029536	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	9q33.3	GARNL3, SLC2A8	rs7029536-T	NR	5E-6		0.2261	unit decrease	Illumina [5767231] (imputed)	N
1580	chr9	130504069	130504070	rs514024	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	9q34.11	PKN3, SET, WDR34, ZDHHC12, ZER1	rs514024-A	0.572	5E-6		0.061	[0.036-0.086] unit increase	Illumina [6150213] (imputed)	N
1581	chr9	130619636	130619637	rs7865146	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	9q34.11	ENG	rs7865146-A	0.37	1E-6	(DBP)	1.19	[0.71-1.67] mmHg decrease	Illumina [308011]	N
1584	chr9	130976556	130976557	rs2502731	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	9q34.11	DNM1	rs2502731-?	NR	2E-6				Affymetrix [504219]	N
1584	chr9	131042733	131042734	rs2270204	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q34.11	SWI5	rs2270204-G	0.273	3E-7		0.018	[0.011-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1584	chr9	131042733	131042734	rs2270204	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q34.11	SWI5	rs2270204-G	0.251	6E-6	(EA, men)	0.022	[0.012-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1584	chr9	131042733	131042734	rs2270204	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	9q34.11	SWI5	rs2270204-G	0.251	3E-7	(EA)	0.019	[0.012-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1585	chr9	131084627	131084628	rs11539570	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q34.11	TRUB2, COQ4	rs11539570-A	0.0070	7E-6	(WC change )	0.02	[NR] cm/y increase	Illumina [899892]	N
1587	chr9	131403220	131403221	rs12380424	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	9q34.11	PKN3, SET, WDR34, ZDHHC12, ZER1, SPTAN1, GLE1	rs12380424-T	0.0282	6E-6		0.2822	[0.16-0.4] unit increase	Illumina [2500000] (imputed)	N
1588	chr9	131475582	131475583	rs72758841	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q34.11	PKN3	rs72758841-G	0.036	6E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1588	chr9	131572026	131572027	rs15676	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	9q34.11	CCBL1	rs15676-A	0.71	1E-12	(indolelactate)	0.019	[0.013-0.025] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1589	chr9	131608785	131608786	rs2977993	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	9q34.11	NR	rs2977993-A	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1591	chr9	131874640	131874641	rs7849270	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	9q34.11	CRAT	rs7849270-A	0.3	3E-21	(C-glycosyltryptophan/succinylcarnitine)	0.025	[0.019-0.031] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1591	chr9	131888115	131888116	rs10988217	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	9q34.11	CRAT	rs10988217-A	0.39	1E-18	(succinylcarnitine)	0.016	[0.012-0.02] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1591	chr9	131888115	131888116	rs10988217	23646285	Khor SS	2013-04-16	PeerJ	Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.	Hypersomnia (HLA-DQB1*06:02 negative)	125 Japanese ancestry cases, 562 Japanese ancestry controls		9q34.11	CART, PPP2R4	rs10988217-G	0.233	3E-6	(recessive)	3.85	[2.11-7.04]	Affymetrix [508366] (imputed)	N
1591	chr9	131889293	131889294	rs17481720	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	9q34.11	NR	rs17481720-?	NR	4E-7	(AA)	1.2771	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1594	chr9	132339069	132339070	rs10988428	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	9q34.11	C9orf50	rs10988428-G		8E-6		0.12	[0.07-0.17] unit increase	Affymetrix [~ 2500000] (imputed)	N
1594	chr9	132349596	132349597	rs73628692	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/5-HIAA ratio)	up to 398 European ancestry individuals	NA	9q34.11	BC037833	rs73628692-T		7E-6		0.2144	unit increase	Illumina [5767231] (imputed)	N
1594	chr9	132370359	132370360	rs10988449	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	9q34.11	C9orf50	rs10988449-T	0.17	3E-6	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
1595	chr9	132444098	132444099	rs7866070	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	9q34.11	NR	rs7866070-?	NR	7E-7	(astigmatism)			Illumina [535076]	N
1597	chr9	132684006	132684007	rs2007126	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	9q34.11	intergenic	rs2007126-A	0.839465741	2E-7		0.051945508	[0.032-0.071] unit decrease	Illumina [1632371] (imputed)	N
1597	chr9	132714967	132714968	rs10760649	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	9q34.11	FNBP1	rs10760649-T	0.84	3E-7		0.05	[0.03-0.07] unit decrease	Illumina [1632371] (imputed)	N
1599	chr9	132939791	132939792	rs4836694	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		9q34.11	NCS1	rs4836694-?	0.11	7E-7		0.21	unit decrease	Illumina [NR] (imputed)	N
1603	chr9	133464083	133464084	rs7466269	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	9q34.11	FUBP3	rs7466269-A	0.644	1E-27		0.033	[0.027-0.039] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1603	chr9	133464083	133464084	rs7466269	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	9q34.11	FUBP3	rs7466269-A	0.65	3E-8		0.084	[0.055-0.113] unit increase	Illumina [~ 2500000] (imputed)	N
1603	chr9	133464083	133464084	rs7466269	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	9q34.11	FUBP3	rs7466269-A	NR	5E-6	(EA)	0.0793	[0.045-0.113] unit increase	Illumina [~ 2500000] (imputed)	N
1603	chr9	133464083	133464084	rs7466269	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	9q34.11	FUBP3	rs7466269-A	0.65	2E-8		0.087	[0.058-0.116] unit increase	Illumina [~ 2500000] (imputed)	N
1603	chr9	133464083	133464084	rs7466269	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	9q34.11	FUBP3	rs7466269-A	0.64	2E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1603	chr9	133464083	133464084	rs7466269	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q34.11	FUBP3	rs7466269-A	0.64	3E-17		0.032	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1603	chr9	133464083	133464084	rs7466269	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	9q34.11	FUBP3	rs7466269-G	0.33	8E-7		0.27	[0.38-0.69] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
1603	chr9	133478826	133478827	rs7851693	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	9q34.12	FUBP3	rs7851693-C	0.64	3E-22	(FNBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1603	chr9	133534278	133534279	rs3802344	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	9q34.12	PRDM12	rs3802344-A	0.07	5E-6		0.111	[0.064-0.158] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
1605	chr9	133748082	133748083	rs2070997	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	9q34.12	ABL1	rs2070997-?	NR	8E-6	(SF6)			Affymetrix [5476100] (imputed)	N
1605	chr9	133765655	133765656	rs10901296	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	9q34.12	intergenic	rs10901296-?	0.016	3E-7		0.092	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
1610	chr9	134450072	134450073	rs11243437	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	9q34.13	intergenic	rs11243437-?	NR	7E-6	(SF4)			Affymetrix [5476100] (imputed)	N
1615	chr9	135096766	135096767	rs11243676	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	9q34.13	NTNG2	rs11243676-A	0.07	3E-6				Illumina [502033]	N
1617	chr9	135344406	135344407	rs569434	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q34.13	C9orf171	rs569434-G	0.248	9E-6	(Fat oxidation )	0.03	[NR] %NPEE increase	Illumina [899892]	N
1619	chr9	135618282	135618283	rs11243897	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	9q34.13	C9orf98	rs11243897-?	NR	6E-8				Affymetrix [504219]	N
1619	chr9	135632492	135632493	rs12552369	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	9q34.13	C9orf98	rs12552369-A	0.494	8E-6	(% improvement - 2 weeks)	1.155	[1.1-1.21]	Affymetrix, Illumina [1200000] (imputed)	N
1619	chr9	135647020	135647021	rs10901212	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q34.13	AK8	rs10901212-C	0.089	5E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1620	chr9	135776033	135776034	rs1076160	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	9q34.13	TSC1	rs1076160-T	0.48	6E-6		1.09	[NR]	Perlegen [~ 2500000] (imputed)	N
1621	chr9	135845034	135845035	rs2905072	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	9q34.13	NR	rs2905072-A	0.77	6E-6		1.21	[1.11-1.32]	Affymetrix, Illumina [2366197] (imputed)	N
1621	chr9	135879455	135879456	rs7032317	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Calcium levels	5,261 European ancestry children, 3,817 African-American ancestry children		9q34.13	NR	rs7032317-T	NR	5E-6	(EA)	0.04442	[-0.06348--0.02536] mg/dl decrease	Illumina [up to 507950]	N
1623	chr9	136081886	136081887	rs139911703	25934476	de Vries PS	2015-05-01	Blood	Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.	ADAMTS13 activity	3,423 European ancestry individuals	2,025 European ancestry individuals		OBP2B	rs139911703-A	0.011	4E-8	(Conditional on rs3118667)	11.6	unit decrease	Illumina [8237900] (imputed)	N
1623	chr9	136131187	136131188	rs8176749	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	9q34.2	ABO	rs8176749-C	0.07	4E-12	(5.2625, Unknown)	0.48	[NR] unit increase	Illumina [713870] (imputed)	N
1623	chr9	136131187	136131188	rs8176749	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	9q34.2	ABO	rs8176749-T	0.18	7E-105	(CEA)	0.205	[0.18-0.23] ng/ml increase	Affymetrix, Illumina [NR] (imputed)	N
1623	chr9	136131187	136131188	rs8176749	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	9q34.2	ABO	rs687289-?,rs8176704-?,rs8176749-?	0.720	2E-138	(rs687289-G, rs8176704-G, rs8176749-C)	0.34	[NR] lU/dL decrease	Illumina [723716]	N
1623	chr9	136131187	136131188	rs8176749	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	9q34.2	ABO	rs687289-?,rs8176704-?,rs8176749-?	0.155	4E-98	(rs687289-A, rs8176704-G, rs8176749-C)	0.36	[NR] lU/dL increase	Illumina [723716]	N
1623	chr9	136131187	136131188	rs8176749	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	9q34.2	ABO	rs687289-?,rs8176704-?,rs8176749-?	0.0722	7E-50	(rs687289-A, rs8176704-G, rs8176749-T)	0.36	[NR] lU/dL increase	Illumina [723716]	N
1623	chr9	136131321	136131322	rs8176746	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin concentration	14,377 Japanese ancestry individuals	NA	9q34.2	ABO	rs8176746-T	0.18	4E-8		0.084	[0.055-0.113] unit increase	Illumina [561583]	N
1623	chr9	136131414	136131415	rs8176743	25173106	Hysi PG	2014-08-31	Nat Genet	Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.	Intraocular pressure	7,738 Asian ancestry individuals, 27,558 European ancestry individuals	NA	9q34.2	ABO	rs8176743-T	NR	3E-11		0.261	[0.18-0.34] mm Hg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1623	chr9	136131414	136131415	rs8176743	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	9q34.2	ABO	rs8176743-C	0.939	2E-17	(vWF)	0.582	[0.45-0.72] unit decrease	Illumina [NR] (imputed)	N
1623	chr9	136131460	136131461	rs8176741	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	9q34.2	ABO	rs8176741-?		2E-24				Illumina [709211] (imputed)	N
1623	chr9	136132753	136132754	rs8176722	23717212	Band G	2013-05-23	PLoS Genet	Imputation-based meta-analysis of severe malaria in three African populations.	Malaria	5,425 African ancestry cases, 6,891 African ancestry controls	NA	9q34.2	ABO	rs8176722-A	NR	9E-10		1.28	[1.19-1.39]	Illumina [1300000] (imputed)	N
1623	chr9	136132872	136132873	rs8176720	24094242	Li J	2013-10-05	BMC Genomics	Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.	Serum alkaline phosphatase levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	9q34.2	ABO	rs8176720-C	0.452	3E-21		0.041	[0.033-0.049] U/L increase	Affymetrix [658288]	N
1623	chr9	136132908	136132908	rs8176719	22895189	Timmann C	2012-08-15	Nature	Genome-wide association study indicates two novel resistance loci for severe malaria.	Malaria	1,325 African ancestry, 828 African ancestry controls	2,229 African ancestry cases, 3,526 African ancestry controls	9q34.2	ABO	rs8176719-G	0.37	4E-21		1.48	[NR]	Affymetrix [4205739] (imputed)	N
1623	chr9	136132908	136132908	rs8176719	22672568	Heit JA	2012-06-05	J Thromb Haemost	A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.	Venous thromboembolism	1,503 European and other ancestry cases, 1,459 European and other ancestry controls	1,407 cases, 1,418 controls	9q34.2	ABO	rs8176719-G	0.419	6E-12		1.47	[1.32-1.64]	Illumina [~ 2500000] (imputed)	N
1623	chr9	136135551	136135552	rs8176704	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	9q34.2	ABO	rs687289-?,rs8176704-?,rs8176749-?	0.720	2E-138	(rs687289-G, rs8176704-G, rs8176749-C)	0.34	[NR] lU/dL decrease	Illumina [723716]	N
1623	chr9	136135551	136135552	rs8176704	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	9q34.2	ABO	rs687289-?,rs8176704-?,rs8176749-?	0.155	4E-98	(rs687289-A, rs8176704-G, rs8176749-C)	0.36	[NR] lU/dL increase	Illumina [723716]	N
1623	chr9	136135551	136135552	rs8176704	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	9q34.2	ABO	rs687289-?,rs8176704-?,rs8176749-?	0.0722	7E-50	(rs687289-A, rs8176704-G, rs8176749-T)	0.36	[NR] lU/dL increase	Illumina [723716]	N
1623	chr9	136135551	136135552	rs8176704	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA		OBP2A, C9orf96, LOC286310, SURF6, LOC653163, SURF5, ADAMTS13, ABO, OBP2B	rs8176704-A	NR	4E-34	(Conditioned on rs687289)	0.34	[NR] lU/dL decrease	Illumina [723716]	N
1623	chr9	136137064	136137065	rs687621	23650146	Tang W	2013-05-05	Genet Epidemiol	A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Venous thromboembolism	1,618 European ancestry cases, 42,881 European ancestry controls	3,231 European ancestry cases, 3,536 European ancestry controls		ABO	rs687621-G	0.65	2E-52		1.55	[1.47-1.64]	Affymetrix, Illumina [2543885] (imputed)	N
1623	chr9	136137064	136137065	rs687621	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals		LOC653163, SURF2, SURF4, ADAMTS13, C9orf7, ABO	rs687621-A	NR	9E-100		0.817	[0.73-0.90] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1623	chr9	136137064	136137065	rs687621	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA		ABO	rs687621-G	0.317	7E-6		0.0284	[NR] % increase	Affymetrix, Illumina [2522393] (imputed)	N
1623	chr9	136137064	136137065	rs687621	20231535	Smith NL	2010-03-15	Circulation	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	vWF levels	17,596 European ancestry individuals	Up to 7,604 European ancestry individuals		ABO	rs687621-?	NR	5E-324		24.1	[21.4-26.8] unit increase	Affymetrix, Illumina [2742821] (imputed)	N
1623	chr9	136137105	136137106	rs687289	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls		ADAMTS13, ABO	rs687289-?	NR	2E-16		1.27	[1.20-1.35]	Illumina [608202]	N
1623	chr9	136137105	136137106	rs687289	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals		ABO	rs687289-G	0.37	2E-12	(5.1625, Unknown)	0.27	[NR] unit decrease	Illumina [713870] (imputed)	N
1623	chr9	136137105	136137106	rs687289	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals		ABO	rs687289-G	0.37	1E-12	(4.2375, Unknown)	0.27	[NR] unit increase	Illumina [713870] (imputed)	N
1623	chr9	136137105	136137106	rs687289	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	9q34.2	ABO	rs687289-?,rs8176704-?,rs8176749-?	0.720	2E-138	(rs687289-G, rs8176704-G, rs8176749-C)	0.34	[NR] lU/dL decrease	Illumina [723716]	N
1623	chr9	136137105	136137106	rs687289	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	9q34.2	ABO	rs687289-?,rs8176704-?,rs8176749-?	0.155	4E-98	(rs687289-A, rs8176704-G, rs8176749-C)	0.36	[NR] lU/dL increase	Illumina [723716]	N
1623	chr9	136137105	136137106	rs687289	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	9q34.2	ABO	rs687289-?,rs8176704-?,rs8176749-?	0.0722	7E-50	(rs687289-A, rs8176704-G, rs8176749-T)	0.36	[NR] lU/dL increase	Illumina [723716]	N
1623	chr9	136137105	136137106	rs687289	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA		OBP2A, C9orf96, LOC286310, SURF6, LOC653163, SURF5, ADAMTS13, ABO, OBP2B	rs687289-T	0.751	1E-128		0.33	[0.30-0.36] lU/dL increase	Illumina [723716]	N
1623	chr9	136137105	136137106	rs687289	20231535	Smith NL	2010-03-15	Circulation	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	Factor VIII levels	15,279 European ancestry individuals	up to 7,604 European ancestry individuals		ABO	rs687289-?	NR	5E-324		17.7	[15.4-20] unit increase	Affymetrix, Illumina [2729294] (imputed)	N
1623	chr9	136137656	136137657	rs8176693	25552591	Lieb W	2014-12-31	Circ Cardiovasc Genet	Genome-Wide Association Study for Endothelial Growth Factors.	Endothelial growth factor levels	up to 3,574 European ancestry individuals	up to 3,184 European ancestry individuals	9q34.2	ABO	rs8176693-T	0.077	2E-33	(sTie-2)	0.155	[0.13-0.18] unit increase	Affymetrix [~ 2500000] (imputed)	N
1623	chr9	136137656	136137657	rs8176693	25028398	Weiss FU	2014-07-15	Gut	Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study.	Serum lipase activity	3,966 European ancestry individuals	1,444 European ancestry individuals	9q34.2	ABO	rs8176693-T	0.1	1E-30		0.139	[0.12-0.16] unit increase	Affymetrix [NR] (imputed)	N
1623	chr9	136137656	136137657	rs8176693	25028398	Weiss FU	2014-07-15	Gut	Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study.	High serum lipase activity	981 European ancestry cases, 2985 European ancestry controls	346 European ancestry cases, 1098 European ancestry controls	9q34.2	ABO	rs8176693-T	0.1	1E-22		2.27	[2.11-2.43]	Affymetrix [NR] (imputed)	N
1623	chr9	136139264	136139265	rs657152	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA		ABO	rs657152-T	0.38	4E-6	(EA)	0.05	[0.03-0.07] unit increase	Illumina [up to 905285]	N
1623	chr9	136139264	136139265	rs657152	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals		ABO	rs657152-C	0.39	1E-19	(1.2975, Unknown)	0.34	[NR] unit increase	Illumina [713870] (imputed)	N
1623	chr9	136139264	136139265	rs657152	24094242	Li J	2013-10-05	BMC Genomics	Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.	Serum alkaline phosphatase levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals		ABO	rs657152-T	0.46	4E-8		0.062	[NR] U/L decrease	Affymetrix [658288]	N
1623	chr9	136139264	136139265	rs657152	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA		ABO	rs657152-A	0.343	4E-10	(TSH)	0.058	[0.04-0.076] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1623	chr9	136139264	136139265	rs657152	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA		ABO	rs657152-A	0.343	1E-6	(TSH - Males)	0.067	[0.04-0.094] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1623	chr9	136139264	136139265	rs657152	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA		ABO	rs657152-A	0.254	2E-8	(IL6 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1623	chr9	136139264	136139265	rs657152	20529992	Teupser D	2010-06-07	Circ Cardiovasc Genet	Genetic regulation of serum phytosterol levels and risk of coronary artery disease.	Phytosterol levels	1,495 European ancestry individuals	2,917 European ancestry individuals		ABO	rs657152-T	0.383	9E-13	(campesterol)	8.0	[NR] % increase	Affymetrix [374370]	N
1623	chr9	136139264	136139265	rs657152	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals		ABO	rs657152-T	0.39	2E-30	(ALP)	0.05	[0.039-0.055] U/L decrease	Affymetrix, Illumina [up to 496032]	N
1623	chr9	136141869	136141870	rs2519093	22672568	Heit JA	2012-06-05	J Thromb Haemost	A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.	Venous thromboembolism	1,503 European and other ancestry cases, 1,459 European and other ancestry controls	1,407 cases, 1,418 controls		ABO	rs2519093-A	0.243	8E-16		1.69	[1.48-1.91]	Illumina [~ 2500000] (imputed)	N
1623	chr9	136142202	136142203	rs514659	21239051	Reilly MP	2011-01-14	Lancet	Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.	Myocardial infarction in coronary artery disease	4,572 European ancestry cases, 2,739 European ancestry controls	1,211 European ancestry cases, 905 European ancestry controls		ABO	rs514659-C	0.37	8E-9		1.21	[1.13-1.29]	Affymetrix, Illumina [up to 2400000] (imputed)	N
1623	chr9	136142216	136142217	rs644234	23056639	de Boer RA	2012-10-09	PLoS One	A genome-wide association study of circulating galectin-3.	Protein biomarker	3,776 European ancestry individuals	3,516 individuals		ABO	rs644234-G	0.35	4E-47	(Galectin-3)	0.0684	[0.059-0.078] unit decrease	Illumina [2269099] (imputed)	N
1623	chr9	136142354	136142355	rs643434	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA		ABO	rs643434-G	0.656	1E-49	(vWF)	0.51	[0.44-0.58] unit decrease	Illumina [NR] (imputed)	N
1623	chr9	136142354	136142355	rs643434	22291609	Naitza S	2012-01-26	PLoS Genet	A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.	Inflammatory biomarkers	4,694 Sardinian individuals	1,392 Sardinian individuals		ABO	rs643434-A	0.258	9E-25	(IL-6)			Affymetrix [~ 1900000] (imputed)	N
1623	chr9	136143441	136143442	rs612169	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA		ABO	rs612169-G	0.335	9E-40	(SM-8 + 3 other traits)	0.202	[NR] unit increase	Affymetrix, Illumina [534665]	N
1623	chr9	136146596	136146597	rs550057	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA		ABO	rs550057-T	0.26	6E-20		0.063	[0.049-0.077] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1623	chr9	136146596	136146597	rs550057	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA		ABO	rs550057-T	0.266	3E-6		0.116	[0.057-0.175] unit decrease	Illumina [6391392] (imputed)	N
1623	chr9	136149228	136149229	rs505922	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls		ABO	rs505922-?	NR	2E-13		1.27	[1.19-1.35]	Illumina [866891] (imputed)	N
1623	chr9	136149228	136149229	rs505922	23612905	Zhao SX	2013-04-29	Hum Mol Genet	Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.	Graves' disease	1,442 Han Chinese ancestry cases, 1,468 Han Chinese ancestry controls	6,358 Han Chinese ancestry cases, 6,722 Han Chinese ancestry controls		ABO	rs505922-?	0.53	2E-10		1.14	[1.1-1.19]	Illumina [483947]	N
1623	chr9	136149228	136149229	rs505922	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA		ABO	rs505922-T	0.68	5E-57	(vWF)	0.561	[0.49-0.63] unit decrease	Illumina [NR] (imputed)	N
1623	chr9	136149228	136149229	rs505922	22387998	Tanikawa C	2012-03-04	Nat Genet	A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population.	Duodenal ulcer	1,043 Japanese ancestry cases, 21,694 Japanese ancestry controls	5,992 Japanese ancestry cases, 3,629 Japanese ancestry controls		ABO	rs505922-T	0.54	1E-10	(Recessive)	1.32	[NR]	Illumina [480327]	N
1623	chr9	136149228	136149229	rs505922	21980494	Germain M	2011-09-27	PLoS One	Genetics of venous thrombosis: insights from a new genome wide association study.	Venous thromboembolism	1,542 European ancestry cases, 1,110 European ancestry controls	NA		ABO	rs505922-C	0.43	1E-34		1.92	[NR]	Illumina [481002]	N
1623	chr9	136149228	136149229	rs505922	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls		ABO	rs505922-T	0.53	8E-6		1.13	[1.07-1.20]	Illumina [486049]	N
1623	chr9	136149228	136149229	rs505922	19648918	Amundadottir L	2009-08-02	Nat Genet	Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.	Pancreatic cancer	1,771 European ancestry cases, 1,805 European ancestry controls	2,120 European ancestry cases, 2,127 European ancestry controls		ABO	rs505922-C	0.35	5E-8		1.2	[1.12-1.28]	Illumina [558542]	N
1623	chr9	136149228	136149229	rs505922	19278955	Tregouet DA	2009-03-10	Blood	Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.	Venous thromboembolism	419 European ancestry cases, 1,228 European ancestry controls	1,757 European ancestry cases, 1,480 European ancestry controls		ABO	rs505922-C	0.35	4E-15		1.81	[1.56-2.11]	Illumina [291872]	N
1623	chr9	136149228	136149229	rs505922	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals		ABO	rs505922-?	0.34	7E-40	(TNFA)			Illumina [496032]	N
1623	chr9	136149398	136149399	rs507666	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA		ABO	rs507666-A	0.18	2E-18		0.067	[0.051-0.083] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1623	chr9	136149398	136149399	rs507666	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals		ABO	rs507666-A	0.23	4E-11	(TC)	0.015	[0.0091-0.0209] mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
1623	chr9	136149398	136149399	rs507666	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals		ABO	rs507666-A	0.23	2E-11	(LDL)	0.073	[0.044-0.102] mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
1623	chr9	136149398	136149399	rs507666	21533024	Pare G	2011-04-21	PLoS Genet	Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.	Soluble ICAM-1	22,435 European ancestry female individuals	9,813 individuals		ABO	rs507666-A	0.20	3E-91		17.3	[NR] ng/mL decrease	Illumina [334295]	N
1623	chr9	136149398	136149399	rs507666	18604267	Pare G	2008-07-04	PLoS Genet	Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.	Soluble ICAM-1	4,570 European ancestry female individuals	2,008 European ancestry female individuals		ABO	rs507666-G	0.20	5E-29		17.73	[NR] umol/L decrease	Illumina [336108]	N
1623	chr9	136149499	136149500	rs529565	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls		ABO	rs529565-C	0.354	4E-75		1.55	[1.48-1.63]	Affymetrix, Illumina [6751884] (imputed)	N
1623	chr9	136153874	136153875	rs651007	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (ferritin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	9q34.2	ABO	rs651007-T	0.202	1E-8		0.05	[0.032-0.068] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
1623	chr9	136153874	136153875	rs651007	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	9q34.2	ABO	rs651007-T	0.21	6E-20	(ADpSGEGDFXAEGGGVR)	0.065	[0.051-0.079] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1623	chr9	136153874	136153875	rs651007	24094242	Li J	2013-10-05	BMC Genomics	Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.	Serum alkaline phosphatase levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	9q34.2	SURF6, ABO	rs651007-A	0.226	1E-56		0.079	[0.069-0.089] U/L decrease	Affymetrix [658288]	N
1623	chr9	136153874	136153875	rs651007	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	9q34.2	ABO	rs651007-C	0.81	2E-25	(FVIII)	0.461	[0.37-0.55] unit decrease	Illumina [NR] (imputed)	N
1623	chr9	136153874	136153875	rs651007	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	9q34.2	ABO	rs651007-A	0.26	6E-9	(LDL)	2.2778	[1.51-3.05] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
1623	chr9	136153874	136153875	rs651007	20147318	Qi L	2010-02-22	Hum Mol Genet	Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.	E-selectin levels	501 European ancestry type 2 diabetes female cases, 504 European ancestry female controls	518 European ancestry female individuals	9q34.2	ABO	rs651007-T	0.22	2E-82		17.23	[NR] ng/ml decrease	Affymetrix [721316]	N
1623	chr9	136154167	136154168	rs579459	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	9q34.2	ABO	rs579459-T	0.79	1E-28	(ADpSGEGDFXAEGGGVR/X-14304--leucylalanine)	0.124	[0.1-0.15] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1623	chr9	136154167	136154168	rs579459	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	9q34.2	ABO	rs579459-T	0.27	2E-32	(5.1825, Unknown)	0.53	[NR] unit increase	Illumina [713870] (imputed)	N
1623	chr9	136154167	136154168	rs579459	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	9q34.2	ABO	rs579459-T	0.27	1E-28	(2.0525, Unknown)	0.49	[NR] unit increase	Illumina [713870] (imputed)	N
1623	chr9	136154167	136154168	rs579459	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	9q34.2	ABO	rs579459-?		3E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1623	chr9	136154167	136154168	rs579459	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	9q34.2	ABO	rs579459-?		2E-9				Affymetrix, Illumina [up to 2500000] (imputed)	N
1623	chr9	136154167	136154168	rs579459	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	9q34.2	ABO	rs579459-C	NR	2E-7		1.1	[1.06-1.14]	Illumina [575000] (imputed)	N
1623	chr9	136154167	136154168	rs579459	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	9q34.2	ABO	rs579459-T	0.8	9E-18	(EA, RBCC)	0.021	[0.015-0.027] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1623	chr9	136154167	136154168	rs579459	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	9q34.2	ABO	rs579459-T	0.80	3E-123		8.8	[7.40-10.2] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1623	chr9	136154167	136154168	rs579459	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	9q34.2	ABO	rs579459-C	0.21	4E-14		1.1	[1.07-1.13]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1623	chr9	136154167	136154168	rs579459	20167578	Barbalic M	2010-02-18	Hum Mol Genet	Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.	Soluble levels of adhesion molecules	Up to 9,813 European ancestry individuals	NA	9q34.2	ABO	rs579459-T	NR	2E-41	(P-Selectin)	14.0	[12.04-15.96] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1623	chr9	136154167	136154168	rs579459	19729612	Paterson AD	2009-09-03	Arterioscler Thromb Vasc Biol	Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.	Soluble E-selectin levels	685 European ancestry individuals with type 1 diabetes	477 European ancestry individuals	9q34.2	ABO	rs579459-C	0.20	1E-29				Illumina [~ 841000]	N
1623	chr9	136154303	136154304	rs649129	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	9q34.2	ABO	rs649129-T	0.22	9E-37	(ADSGEGDFXAEGGGVR/ADpSGEGDFXAEGGGVR)	0.085	[0.071-0.099] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1623	chr9	136154303	136154304	rs649129	20167578	Barbalic M	2010-02-18	Hum Mol Genet	Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.	Soluble levels of adhesion molecules	Up to 9,813 European ancestry individuals	NA	9q34.2	ABO	rs649129-T	NR	1E-15	(ICAM)	3.95	[2.99-4.91] % decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1623	chr9	136154866	136154867	rs495828	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	9q34.2	ABO	rs495828-T	0.22	6E-34	(DSGEGDFXAEGGGVR/ADpSGEGDFXAEGGGVR)	0.088	[0.074-0.102] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1623	chr9	136154866	136154867	rs495828	22672568	Heit JA	2012-06-05	J Thromb Haemost	A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.	Venous thromboembolism	1,503 European and other ancestry cases, 1,459 European and other ancestry controls	1,407 cases, 1,418 controls	9q34.2	ABO	rs495828-T	0.272	3E-16		1.65	[1.46-1.86]	Illumina [~ 2500000] (imputed)	N
1623	chr9	136154866	136154867	rs495828	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Red blood cell count	14,392 Japanese ancestry individuals	NA	9q34.2	ABO	rs495828-T	0.28	3E-12		0.091	[0.066-0.116] unit decrease	Illumina [561583]	N
1623	chr9	136154866	136154867	rs495828	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	9q34.2	ABO	rs495828-T	0.28	6E-10	(Ht)	0.081	[0.056-0.106] unit decrease	Illumina [561583]	N
1623	chr9	136154866	136154867	rs495828	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	9q34.2	ABO	rs495828-T	0.28	4E-59	(ALP)	0.308	[0.27-0.35] unit decrease	Illumina [561583]	N
1623	chr9	136154866	136154867	rs495828	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	9q34.2	ABO	rs495828-T	0.28	1E-11	(Hb)	0.089	[0.064-0.114] unit decrease	Illumina [561583]	N
1623	chr9	136154866	136154867	rs495828	20066004	Chung CM	2010-01-12	Pharmacogenomics J	A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.	Angiotensin-converting enzyme activity	400 Han Chinese ancestry hypertensive cases	623 Han Chinese ancestry hypertensive cases	9q34.2	ABO	rs495828-A	0.17	3E-8		4.9	[NR] % variance	Illumina [~ 550000]	N
1623	chr9	136154999	136155000	rs635634	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	9q34.2	ABO	rs635634-T	0.22	8E-22		2.05	[1.64-2.46] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1623	chr9	136154999	136155000	rs635634	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	9q34.2	ABO	rs635634-T	0.21	9E-21		2.3	[1.81-2.79] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1623	chr9	136155358	136155359	rs7030248	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	9q34.2	intergenic	rs7030248-?		4E-15				Illumina [709211] (imputed)	N
1623	chr9	136155443	136155444	rs633862	25134534	Chen K	2014-08-19	Nat Commun	Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.	Epithelial ovarian cancer	1,044 Han Chinese ancestry cases, 1,172 Han Chinese ancestry controls	1,452 Han Chinese ancestry cases, 2,803 Han Chinese ancestry controls	9q34.2	SURF6, ABO	rs633862-A	0.54	9E-7		1.19	[1.02-1.39]	Illumina [710714]	N
1623	chr9	136166345	136166346	rs7025162	24094242	Li J	2013-10-05	BMC Genomics	Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.	Serum alkaline phosphatase levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	9q34.2	SURF6, ABO	rs7025162-A	0.384	3E-27		0.047	[0.039-0.055] U/L decrease	Affymetrix [658288]	N
1624	chr9	136291062	136291063	rs3118667	25934476	de Vries PS	2015-05-01	Blood	Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.	ADAMTS13 activity	3,423 European ancestry individuals	2,025 European ancestry individuals	9q34.2	ADAMTS13	rs3118667-C	0.47	1E-20	(Conditional on rs41314453 and rs10456544)	3.0	unit increase	Illumina [8237900] (imputed)	N
1624	chr9	136307824	136307825	rs41314453	25934476	de Vries PS	2015-05-01	Blood	Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.	ADAMTS13 activity	3,423 European ancestry individuals	2,025 European ancestry individuals	9q34.2	ADAMTS13	rs41314453-T	0.0188	1E-63		21.7	unit decrease	Illumina [8237900] (imputed)	N
1625	chr9	136323753	136323754	rs4962153	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	9q34.2	ADAMTS13	rs4962153-A	NR	8E-21	(ALP)	0.06	[0.048-0.072] U/L decrease	Affymetrix, Illumina [up to 496032]	N
1626	chr9	136478354	136478355	rs3025343	20418890	The Tobacco and Genetics Consortium	2010-04-25	Nat Genet	Genome-wide meta-analyses identify multiple loci associated with smoking behavior.	Smoking behavior	Up to 74,035 European ancestry individuals	Up to 68,988 participants	9q34.2	DBH	rs3025343-G	0.84	4E-8	(smoking cessation)	1.12	[1.08-1.18]	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
1627	chr9	136676013	136676014	rs7021663	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q34.2	NR	rs7021663-C	0.209934371046771	3E-6	(IGP63)	0.1807	[0.1-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1627	chr9	136679079	136679080	rs756777	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q34.2	NR	rs756777-G	0.208834557187361	1E-6	(IGP67)	0.1868	[0.11-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1628	chr9	136723519	136723520	rs12344583	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	9q34.2	VAV2	rs12344583-G	0.20	8E-6	(FVIII activity)	0.2	[0.12-0.28] IU/dL increase	Illumina [442728]	N
1628	chr9	136835342	136835343	rs3780792	20598377	Nischwitz S	2010-06-30	J Neuroimmunol	Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.	Multiple sclerosis	590 European ancestry cases, 825 European ancestry controls	NA	9q34.2	VAV2	rs3780792-G	NR	1E-6		1.6	[1.32-1.92]	Illumina [~ 300000]	N
1629	chr9	136925662	136925663	rs11789898	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	9q34.2	BRD3	rs11789898-T	NR	2E-10		3.014	[2.08-3.95] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1631	chr9	137125500	137125501	rs10785877	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)	150 Japanese ancestry cases, 166 Japanese ancestry controls	NA	9q34.2	RXRA	rs10785877-T	0.66	7E-7	(Allelic model)	2.58	[1.766-3.769]	Illumina [733202]	N
1631	chr9	137171765	137171766	rs67383251	25628645	Tong Y	2015-01-13	Front Genet	Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs).	Response to Homoharringtonine (cytotoxicity)	93 African-American ancestry lymphoblastoid cell lines, 91 European ancestry lymphoblastoid cell lines, 94 Han Chinese ancestry lymphoblastoid cell lines	NA	9q34.2	intergenic	rs67383251-?		6E-6				Affymetrix, Illumina [6750581] (imputed)	N
1632	chr9	137269455	137269456	rs34312136	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	9q34.2	RXRA	rs34312136-?,rs35079168-?,rs4501664-?,rs11102986-?	NR	8E-8	(Schizophrenia, Cognitive ability)			Illumina [795637]	N
1632	chr9	137280938	137280939	rs35079168	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	9q34.2	RXRA	rs34312136-?,rs35079168-?,rs4501664-?,rs11102986-?	NR	8E-8	(Schizophrenia, Cognitive ability)			Illumina [795637]	N
1632	chr9	137284922	137284923	rs4501664	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	9q34.2	RXRA	rs34312136-?,rs35079168-?,rs4501664-?,rs11102986-?	NR	8E-8	(Schizophrenia, Cognitive ability)			Illumina [795637]	N
1632	chr9	137285502	137285503	rs11102986	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	9q34.2	RXRA	rs34312136-?,rs35079168-?,rs4501664-?,rs11102986-?	NR	8E-8	(Schizophrenia, Cognitive ability)			Illumina [795637]	N
1633	chr9	137424041	137424042	rs4841895	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	9q34.3	COL5A1, RXRA	rs4841895-G	0.65	8E-7	(EA, MAP, Age 60-69)	0.81	[0.5-1.12] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1633	chr9	137436313	137436314	rs3118515	23493294	Gao X	2013-03-14	Invest Ophthalmol Vis Sci	A genome-wide association study of central corneal thickness in Latinos.	Central corneal thickness	1,644 Latino individuals	124 Latino individuals	9q34.3	COL5A1, RXRA, LOC100506532	rs3118515-A	0.262	8E-10		0.23	[NR] unit decrease	Illumina [6290547] (imputed)	N
1633	chr9	137440211	137440212	rs3132306	22814818	Hoehn R	2012-07-20	Hum Genet	Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.	Central corneal thickness	3,931 European ancestry individuals	1,418 European ancestry individuals	9q34.3	COL5A1, RXRA	rs3132306-T	0.66	3E-10		0.15	[0.11-0.19] SD increase	Affymetrix [NR] (imputed)	N
1633	chr9	137440527	137440528	rs1536482	23493294	Gao X	2013-03-14	Invest Ophthalmol Vis Sci	A genome-wide association study of central corneal thickness in Latinos.	Central corneal thickness	1,644 Latino individuals	124 Latino individuals	9q34.3	COL5A1, RXRA	rs1536482-G	0.73	6E-8		0.22	unit decrease	Illumina [6290547] (imputed)	N
1633	chr9	137440527	137440528	rs1536482	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	9q34.3	COL5A1, RXRA	rs1536482-A	0.34	3E-22		0.12	[0.1-0.14] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1634	chr9	137506577	137506578	rs11103429	23665963	Dubinsky MC	2013-05-09	Inflamm Bowel Dis	Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease.	Crohn's disease (need for surgery)	239 European ancestry cases that required surgery within 5 year, 375 European ancestry cases that did not require surgery within 5 years	NA	9q34.3	COL5A1, RXRA	rs11103429-G	0.05	6E-6		3.6	[2.10-6.30]	Illumina [483359]	N
1634	chr9	137568050	137568051	rs7044529	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	9q34.3	COL5A1	rs7044529-T	0.15	5E-12		0.13	[0.091-0.169] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1634	chr9	137568050	137568051	rs7044529	20719862	Vitart V	2010-08-18	Hum Mol Genet	New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.	Central corneal thickness	1,445 European ancestry individuals	5,882 European ancestry individuals	9q34.3	COL5A1	rs7044529-A	NR	5E-8		0.13	[0.09-0.18] unit decrease	Illumina [~ 2000000] (imputed)	N
1635	chr9	137704781	137704782	rs7874142	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	9q34.3	COL5A1	rs7874142-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1636	chr9	137816458	137816459	rs2094962	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	9q34.3	NR	rs2094962-C	0.901323053404539	5E-6	(IGP54)	0.2366	[0.14-0.34] unit decrease	Illumina [~ 2500000] (imputed)	N
1638	chr9	138028676	138028677	rs3849221	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q34.3	OLFM1	rs3849221-A	0.409	1E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1638	chr9	138029700	138029701	rs10776934	22095909	Lange CM	2011-11-16	Hepatology	Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	707 European ancestry cases	NA	9q34.3	OLFM1	rs10776934-T	NR	1E-6		0.281	[0.17-0.39] ug/L decrease	NR [NR]	N
1639	chr9	138275775	138275776	rs10858396	21784300	Mick E	2011-07-13	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of the child behavior checklist dysregulation profile.	Attention deficit hyperactivity disorder	341 ADHD case offspring from 339 trios	NA	9q34.3	intergenic	rs10858396-?	NR	6E-6				Illumina [835136]	N
1641	chr9	138529721	138529722	rs1537415	19897590	Schaefer AS	2009-11-06	Hum Mol Genet	A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis.	Periodontitis	283 European ancestry cases, 972 European ancestry controls	155 European ancestry cases, 341 European ancestry controls	9q34.3	GLT6D1	rs1537415-G	0.38	6E-9		1.59	[1.36-1.86]	Affymetrix [345646]	N
1646	chr9	139089678	139089679	rs7860634	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	9q34.3	LHX3	rs7860634-A	0.53	5E-8	(FT4-Females)	0.098	[0.063-0.133] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1646	chr9	139089678	139089679	rs7860634	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	9q34.3	LHX3	rs7860634-A	0.53	2E-8	(FT4-Males)	0.108	[0.071-0.145] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1646	chr9	139089678	139089679	rs7860634	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	9q34.3	LHX3	rs7860634-A	0.53	2E-14	(FT4)	0.102	[0.077-0.127] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1646	chr9	139111869	139111870	rs7849585	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	9q34.3	QSOX2	rs7849585-T	0.331	1E-29		0.036	[0.03-0.042] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1646	chr9	139111869	139111870	rs7849585	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	9q34.3	QSOX2	rs7849585-T	0.33	5E-14		0.029	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1646	chr9	139119214	139119215	rs10858250	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	9q34.3	QSOX2	rs10858250-A	0.75	7E-23		0.052	[0.038-0.066] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1646	chr9	139121739	139121740	rs12338076	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	9q34.3	QSOX2, LHX3	rs12338076-C	0.34	2E-8		0.06	[0.04-0.08] cm increase	Illumina [420885]	N
1647	chr9	139252147	139252148	rs11787792	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	9q34.3	GPSM1	rs11787792-A	0.874	2E-10		1.15	[1.10-1.20]	Illumina [6209637] (imputed)	N
1647	chr9	139265595	139265596	rs34971035	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q34.3	CARD9	rs34971035-A	0.064	5E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1647	chr9	139265595	139265596	rs34971035	23017229	Voruganti VS	2012-09-24	Cytokine	Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children.	Monocyte chemoattractant protein-1	815 Hispanic children	NA	9q34.3	CARD9	rs34971035-?	NR	5E-8				Illumina [NR]	N
1647	chr9	139266404	139266405	rs10781499	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q34.3	NR	rs10781499-A	0.4263	4E-26	(EA)	1.142511	[1.12-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1647	chr9	139266404	139266405	rs10781499	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q34.3	NR	rs10781499-A	0.4263	8E-43	(EA)	1.181867	[1.16-1.21]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1647	chr9	139266404	139266405	rs10781499	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	9q34.3	INPP5E, SDCCAG3, CARD9, PMPCA	rs10781499-A	0.412	4E-56		1.188	[1.154-1.222]	Affymetrix, Illumina [1230000] (imputed)	N
1647	chr9	139266404	139266405	rs10781499	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	9q34.3	INPP5E, SDCCAG3, SEC16A, CARD9, SNAPC4	rs10781499-A	0.41	3E-19		1.12	[1.08-1.17]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1647	chr9	139266495	139266496	rs4077515	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q34.3	NR	rs4077515-?	NR	1E-53	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1647	chr9	139266495	139266496	rs4077515	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	9q34.3	CARD9	rs4077515-T	0.4	2E-8	(EA)	1.18	[NR]	Illumina [> 1000000] (imputed)	N
1647	chr9	139266495	139266496	rs4077515	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	9q34.3	CARD9	rs4077515-T	0.4	1E-9		1.16	[NR]	Illumina [> 1000000] (imputed)	N
1647	chr9	139266495	139266496	rs4077515	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	9q34.3	CARD9, SNAPC4	rs4077515-T	NR	4E-6		1.29	[NR]	Illumina [508934]	N
1647	chr9	139266495	139266496	rs4077515	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	9q34.3	CARD9, SNAPC4	rs4077515-T	0.411	1E-36		1.18	[1.13-1.22]	Affymetrix, Illumina [953241] (imputed)	N
1647	chr9	139266495	139266496	rs4077515	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	9q34.3	CARD9	rs4077515-A	NR	5E-8		1.22	[NR]	Illumina [266047]	N
1647	chr9	139269337	139269338	rs10781500	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	9q34.3	CARD9	rs10781500-T	0.42	1E-6				Illumina [2223620] (imputed)	N
1647	chr9	139269337	139269338	rs10781500	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	9q34.3	CARD9	rs10781500-?	NR	7E-6				Affymetrix [NR]	N
1647	chr9	139275203	139275204	rs3812570	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	9q34.3	SNAPC4	rs3812570-?		2E-6	(DI)	1.87	[0.85-2.89] unit decrease	Illumina [693128]	N
1648	chr9	139399640	139399641	rs13300218	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q34.3	NR	rs13300218-G	0.9	2E-10	(EA)	1.1441684		Affymetrix, Illumina [~ 9000000] (imputed)	N
1648	chr9	139399640	139399641	rs13300218	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q34.3	NR	rs13300218-G	0.9	7E-20	(EA)	1.1674234		Affymetrix, Illumina [~ 9000000] (imputed)	N
1648	chr9	139399640	139399641	rs13300218	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	9q34.3	NR	rs13300218-A	0.9	7E-16	(EA)	1.1831077		Affymetrix, Illumina [~ 9000000] (imputed)	N
1652	chr9	139860263	139860264	rs11145951	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	9q34.3	LCN12, PTGDS	rs11145951-T	0.49	6E-12		0.09	[0.07-0.11] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
1652	chr9	139862632	139862633	rs57024841	23328707	Tin A	2013-01-16	Nephrol Dial Transplant	Genome-wide significant locus of beta-trace protein, a novel kidney function biomarker, identified in European and African Americans.	Beta-trace protein levels	6,720 European ancestry individuals	1,734 African American individuals	9q34.3	PTGDS	rs57024841-A	0.58	1E-23	(EA)	0.05	[0.040-0.060] unit increase	Affymetrix [~ 2500000] (imputed)	N
1653	chr9	140088629	140088630	rs28417902	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	9q34.3	TPRN	rs28417902-A	0.032	7E-6	(Testosterone )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1660	chr9	140938074	140938075	rs7865267	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	9q34.3	CACNA1B	rs7865267-T		3E-6		2.012		Affymetrix [NR]	N
592	chrX	990179	990180	rs4129148	17522711	Lencz T	2007-03-20	Mol Psychiatry	Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.	Schizophrenia	178 European ancestry cases, 144 European ancestry controls	NA	Xp22.33	CSF2RA, IL3RA	rs4129148-C	NR	4E-7		3.23	[2.04-5.15]	Affymetrix [439511]	N
607	chrX	2885722	2885723	rs12393627	22021425	Carty CL	2011-10-21	Hum Mol Genet	Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).	Height	8,149 African American female individuals	Up to 20,809 African American and African ancestry individuals	Xp22.33	ARSE	rs12393627-G	0.37	5E-12		0.093	[0.056-0.130] unit increase	Affymetrix [855034]	N
607	chrX	2885722	2885723	rs12393627	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	Xp22.33	ARSE	rs12393627-A	0.63	6E-12		0.072	[0.052-0.092] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
611	chrX	3410668	3410669	rs7059886	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	Xp22.33	MXRA5	rs7059886-?	NR	1E-6		1.16	[NR]	Affymetrix [NR]	N
615	chrX	4035126	4035127	rs143011308	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp22.33	NR	rs143011308-?	NR	4E-7	(Native Hawaiian)	0.8601	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
617	chrX	4248100	4248101	rs17219051	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp22.33	NR	rs17219051-?	NR	6E-7	(Native Hawaiian)	0.8015	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
620	chrX	4596137	4596138	rs5916687	19734901	van Es MA	2009-09-06	Nat Genet	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	2,323 European ancestry cases, 9,013 European ancestry controls	2,532 European ancestry cases, 5,940 European ancestry controls	Xp22.32	NR	rs5916687-?	0.27	3E-6		1.22	[NR]	Illumina [292768]	N
624	chrX	5184701	5184702	rs6638512	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	Xp22.32	intergenic	rs6638512-?	NR	2E-25				Affymetrix [NR]	N
631	chrX	6029532	6029533	rs12845396	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	Xp22.31	NLGN4X	rs12845396-T	0.247	2E-8		1.0559661	[1.04-1.08]	Affymetrix, Illumina [9005918] (imputed)	N
632	chrX	6220473	6220474	rs7885458	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	Xp22.31	Neuroligin 4	rs7885458-G	0.24	3E-6	(fibrinogen)	0.23	[0.13-0.33] g/L decrease	Illumina [316730]	N
644	chrX	7807166	7807167	rs146514374	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp22.31	NR	rs146514374-?	NR	1E-7	(Native Hawaiian)	1.0285	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
649	chrX	8394252	8394253	rs7892812	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	Xp22.31	VCX3B	rs7892812-?	0.4747	8E-6	(SSP)			Illumina [475971]	N
653	chrX	8913825	8913826	rs5934505	22936694	Jin G	2012-08-30	Hum Mol Genet	Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.	Androgen levels	3,225 European ancestry male individuals	NA	Xp22.31	FAM9B	rs5934505-G	0.278	2E-8	(serum testosterone)	0.091	[0.060-0.122] unit increase	Illumina [642461]	N
659	chrX	9751473	9751474	rs5934683	22634755	Dunlop MG	2012-05-27	Nat Genet	Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.	Colorectal cancer	8,323 European ancestry cases, 9,457 European ancestry controls	19,513 European ancestry cases, 17,657 European ancestry controls, 1,583 Japanese ancestry cases, 1,898 Japanese ancestry controls	Xp22.2	SHROOM2	rs5934683-?	NR	7E-10		1.07	[1.04-1.10]	Illumina [NR] (imputed)	N
659	chrX	9814134	9814135	rs2405942	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	Xp22.2	GPR143, LOC100288814, SHROOM2, TBL1X, WWC3	rs2405942-A	0.79	2E-10		1.14	[1.09-1.2]	Illumina [~ 2600000] (imputed)	N
663	chrX	10231690	10231691	rs12388359	19581569	Treutlein J	2009-07-01	Arch Gen Psychiatry	Genome-wide association study of alcohol dependence.	Alcohol dependence	476 European ancestry cases, 1,358 European ancestry controls	1,024 European ancestry cases, 996 European ancestry controls	Xp22.2	intergenic	rs12388359-T	0.11	4E-6		1.61	[1.32-2.00]	Illumina [524396]	N
669	chrX	11048691	11048692	rs5934953	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	Xp22.2	HCCS	rs5934953-?	0.02285	1E-7	(PAL6)			Illumina [475971]	N
683	chrX	12971523	12971524	rs5979785	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	Xp22.2	TLR7, TLR8	rs5979785-?	0.74	6E-8		1.14	[1.09-1.19]	Illumina [292387]	N
688	chrX	13615117	13615118	rs5978649	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		Xp22.2	EGFL6	rs5978649-?		4E-6	(Cluxel minimum distance)			Illumina [208975]	N
699	chrX	14950530	14950531	rs5980075	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	Xp22.2	MOSPD2, LOC100128521	rs5980075-T	0.47	5E-7	(Hispanic, Dietary energy)	0.04	[0.03-0.06] unit increase	Affymetrix [706791]	N
701	chrX	15252251	15252252	rs112827279	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp22.2	NR	rs112827279-?	NR	5E-8	(AA)	1.0337	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
715	chrX	17045410	17045411	rs143049324	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp22.2	NR	rs143049324-?	NR	6E-9	(AA)	1.2848	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
720	chrX	17698396	17698397	rs5955543	22544364	Turnbull C	2012-04-29	Nat Genet	A genome-wide association study identifies susceptibility loci for Wilms tumor.	Wilms tumor	757 European ancestry cases, 1,879 European ancestry controls	1,488 European ancestry cases, 3,851 European ancestry controls	Xp22.13	NR	rs5955543-G	0.01	1E-9		2.64	[1.74-4.01]	Illumina [599255]	N
723	chrX	18212181	18212182	rs137948999	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp22.13	NR	rs137948999-?	NR	4E-6	(Native Hawaiian)	0.8279	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
731	chrX	19204223	19204224	rs139545172	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	Xp22.13	NR	rs139545172-?	NR	3E-7		0.3328	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
748	chrX	21380265	21380266	rs1378559	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	Xp22.12	CNKSR2	rs1378559-T	0.831	2E-12		1.09	[1.064-1.116]	Affymetrix, Illumina [9005918] (imputed)	N
753	chrX	22134657	22134658	rs5951698	22889924	Scharf JM	2012-08-14	Mol Psychiatry	Genome-wide association study of Tourette's syndrome.	Tourette syndrome	778 European ancestry cases, 4,414 European ancestry controls, 242 Ashkenazi Jewish cases, 354 Ashkenazi Jewish controls, 265 French Canadian founder cases, 196 French Canadian founder controls	211 Latin American cases, 285 Latin American controls	Xp22.11	PHEX	rs5951698-G	0.0032	6E-6		5.65	[NR]	Illumina [484295]	N
753	chrX	22148050	22148051	rs1540283	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	Xp22.11	PHEX	rs1540283-G		9E-9	(AA)			Illumina [NR]	N
754	chrX	22160991	22160992	rs12559632	21326311	Bhatnagar P	2011-02-17	J Hum Genet	Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.	F-cell distribution	440 African American individuals	NA	Xp22.11	PHEX	rs12559632-A	0.25	3E-6		1.16	[0.69-1.63] unit decrease	Illumina [660740]	N
754	chrX	22239719	22239720	rs3752433	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	Xp22.11	PHEX	rs3752433-A	0.312	3E-7	(Reaction)	0.15	[NR] unit increase	Affymetrix [677643]	N
756	chrX	22435505	22435506	rs113288656	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp22.11	NR	rs113288656-?	NR	2E-7	(AA)	1.1184	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
759	chrX	22892076	22892077	rs5925696	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	Xp22.11	DDX53	rs5925696-?	0.26	3E-6		12.52	[NR]	Affymetrix [512497]	N
759	chrX	22908796	22908797	rs73198917	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp22.11	NR	rs73198917-?	NR	1E-9	(AA)	1.5266	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
763	chrX	23340455	23340456	rs150798856	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp22.11	NR	rs150798856-?	NR	8E-8	(AA)	1.3265	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
763	chrX	23374976	23374977	rs7051085	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	Xp22.11	PTCHD1	rs7051085-?	NR	6E-6	(Response)	1.59	[NR]	Illumina [~ 7000000] (imputed)	N
763	chrX	23383443	23383444	rs5925760	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	Xp22.11	PTCHD1	rs5925760-A		1E-7	(AA)			Illumina [NR]	N
782	chrX	25853613	25853614	rs5944185	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	Xp21.3	MAGEB18	rs5944185-?	0.16	7E-6		10.5	[NR]	Affymetrix [512497]	N
786	chrX	26369898	26369899	rs6526555	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	Xp21.3	VENTXP1	rs6526555-C		4E-6		0.3006	unit increase	Illumina [5767231] (imputed)	N
786	chrX	26369898	26369899	rs6526555	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	Xp21.3	intergenic	rs6526555-C		5E-6		0.2804	unit increase	Illumina [5767231] (imputed)	N
800	chrX	28233052	28233053	rs5971305	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	Xp21.3	WDR42B	rs5971305-?	0.02	8E-6		33.69	[NR]	Affymetrix [512497]	N
811	chrX	29640817	29640818	rs7890572	20838585	Smith EN	2010-09-09	PLoS Genet	Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.	Cardiovascular disease risk factors	525 European ancestry individuals	2,265 European ancestry individuals	Xp21.2	IL1RAPL1	rs7890572-G	0.07	1E-7	(triglycerides)	0.97	[0.62-1.32] % SD increase, SNPxAGE interaction	Illumina [545821]	N
814	chrX	30119776	30119777	rs6628506	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	Xp21.2	intergenic	rs6628506-A		1E-6		0.3338	unit increase	Illumina [5767231] (imputed)	N
829	chrX	32015375	32015376	rs16990008	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	Xp21.1	DMD	rs16990008-C	0.02	2E-6	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
830	chrX	32213961	32213962	rs921896	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety in major depressive disorder	1,080 European ancestry cases, 442 European ancestry controls	NA	Xp21.1	DMD	rs921896-C	0.47	4E-6	(Quantitative)	0.47	[NR] unit increase	Illumina [471581]	N
830	chrX	32225254	32225255	rs1456737	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	Xp21.1	NR	rs1456737-?	NR	5E-6		1.2492	[NR]	Affymetrix [722112]	N
842	chrX	33784062	33784063	rs5928363	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	Xp21.1	intergenic	rs5928363-C	0.98	4E-6		8.3333	[NR]	Affymetrix [up to 4467279] (imputed)	N
842	chrX	33811840	33811841	rs113065570	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	Xp21.1	FAM47A	rs113065570-T	0.32	8E-6	(Age 20-60 years)	0.0469	[0.026-0.067] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
851	chrX	34892502	34892503	rs4271113	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		Xp21.1	TMEM47	rs4271113-?		9E-7	(Cluxel minimum distance)			Illumina [208975]	N
873	chrX	37854726	37854727	rs872690	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	Xp11.4	SYTL5	rs872690-?	0.03	9E-6		11.78	[NR]	Affymetrix [512497]	N
874	chrX	37999651	37999652	rs56156506	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	Xp11.4	SYTL5	rs56156506-A	0.813	1E-6		0.053	[0.031-0.075] unit decrease	Illumina [6150213] (imputed)	N
889	chrX	39885629	39885630	rs17145638	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Pit-and-Fissure caries	996 European ancestry individuals		Xp11.4	BCOR	rs17145638-C	0.1169	2E-7		2.329	[NR] unit decrease	Illumina [1200000] (imputed)	N
917	chrX	43607032	43607033	rs3027409	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	Xp11.3	MAOA	rs3027409-?	0.95	7E-6	(CPDBI)	1.73	[NR]	Illumina [~ 518000]	N
920	chrX	43930088	43930089	rs191792526	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp11.3	NR	rs191792526-?	NR	4E-7	(AA)	1.4223	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
923	chrX	44319939	44319940	rs55952756	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp11.3	NR	rs55952756-?	NR	2E-6	(Native Hawaiian)	0.7218	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
923	chrX	44400185	44400186	rs6610953	18957941	Terracciano A	2008-11-24	Mol Psychiatry	Genome-wide association scan for five major dimensions of personality.	Personality dimensions	3,972 Sardinian individuals	3,903 individuals	Xp11.3	FUNDC1	rs6610953-G	0.85	6E-6	(openness)	0.15	[NR] s.d. increase	Affymetrix [362129]	N
944	chrX	47174275	47174276	rs6611365	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (disc area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	Xp11.3	ZNF157	rs6611365-G	NR	4E-7		0.178	[0.096-0.260] unit increase	Illumina [~ 2740000] (imputed)	N
950	chrX	47906479	47906480	rs142513793	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	Xp11.23	intergenic	rs142513793-C	0.97	2E-7		5.0	[NR]	Affymetrix [up to 4467279] (imputed)	N
967	chrX	50182183	50182184	rs1934179	21113153	van der Zanden LF	2010-11-28	Nat Genet	Common variants in DGKK are strongly associated with risk of hypospadias.	Hypospadias	436 European ancestry cases, 494 European ancestry controls	133 European ancestry cases and their parents, 266 European ancestry cases, 402 European ancestry controls	Xp11.22	DGKK	rs1934179-A	0.33	3E-21		2.6	[2.1-3.1]	Affymetrix [574400]	N
968	chrX	50203401	50203402	rs4554617	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	Xp11.22	DGKK	rs4554617-C	0.312	1E-93		2.52	[NR]	Illumina [8207076] (imputed)	N
975	chrX	51210056	51210057	rs1327301	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	Xp11.22	NR	rs1327301-?	NR	2E-10				Illumina [541129]	N
975	chrX	51229682	51229683	rs5945572	18264098	Gudmundsson J	2008-02-10	Nat Genet	Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.	Prostate cancer	1,854 European ancestry cases, 21,372 European ancestry controls	8,239 European ancestry cases, 7,590 European ancestry controls	Xp11.22	LOC340602, NUDT10, NUDT11	rs5945572-A	0.35	4E-13		1.23	[1.16-1.30]	Illumina [310520]	N
975	chrX	51241671	51241672	rs5945619	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	Xp11.22	NUDT10, NUDT11	rs5945619-C	0.36	2E-9		1.19	[1.07-1.31]	Illumina [541129]	N
988	chrX	52896948	52896949	rs2807031	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	Xp11.22	NR	rs2807031-C	0.161	4E-6		1.15	[1.09-1.22]	Illumina [1531807] (imputed)	N
988	chrX	52896948	52896949	rs2807031	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	Xp11.22	XAGE3	rs2807031-C	0.18	9E-10	(EA)	1.07	[1.04-1.09]	Affymetrix, Illumina [up to 16852405] (imputed)	N
988	chrX	52896948	52896949	rs2807031	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	Xp11.22	XAGE3	rs2807031-C	0.18	3E-11		1.07	[1.05-1.09]	Affymetrix, Illumina [up to 16852405] (imputed)	N
996	chrX	53974053	53974054	rs7065696	21057379	Curtis D	2010-11-04	Psychiatr Genet	Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.	Bipolar disorder and schizophrenia	506 European ancestry bipolar 1 disorder cases, 523 European ancestry schizophrenia cases, 505 European ancestry controls	NA	Xp11.22	PHF8	rs7065696-?	NR	4E-7				Affymetrix [302482]	N
997	chrX	54044106	54044107	rs148215758	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp11.22	NR	rs148215758-?	NR	2E-7	(Native Hawaiian)	1.1057	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1003	chrX	54802519	54802520	rs5961136	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Egg allergy	217 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 688 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	Xp11.22	ITIH5L	rs5961136-?	NR	2E-6				Illumina [6459842] (imputed)	N
1007	chrX	55393078	55393079	rs4240023	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	Xp11.21	PAGE3, MAGEH1, MIR4536-1, RRAGB, LOC644924, USP51, XAGE-4	rs4240023-?		8E-8	(females)			Illumina [1211988] (imputed)	N
1012	chrX	56061249	56061250	rs183056377	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp11.21	NR	rs183056377-?	NR	4E-7	(Native Hawaiian)	0.8009	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1018	chrX	56811694	56811695	rs4826508	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	Xp11.21	KLF8, ZXDA, ZXDB	rs4826508-T	NR	1E-12		0.21	[0.15-0.27] unit increase	Illumina [> 2500000] (imputed)	N
1029	chrX	58323844	58323845	rs12854631	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xp11.1	NR	rs12854631-?	NR	1E-6	(Native Hawaiian)	0.8076	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1057	chrX	61946728	61946729	rs7473757	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq11.1	NR	rs7473757-?	NR	4E-6	(Native Hawaiian)	0.7668	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1062	chrX	62625198	62625199	rs10127000	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	Xq11.1	LOC92249	rs10127000-T	0.06	6E-6	(Age 20-60 years)	0.1006	[0.057-0.144] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1076	chrX	64367018	64367019	rs7064929	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	Xq11.2	KIAA1166	rs7064929-?	0.17	7E-7		13.65	[NR]	Affymetrix [512497]	N
1085	chrX	65606692	65606693	rs5965182	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	Xq12	HEPH	rs5965182-?	0.12	6E-6		11.73	[NR]	Affymetrix [512497]	N
1092	chrX	66510983	66510984	rs6625163	18849991	Richards JB	2008-10-12	Nat Genet	Male-pattern baldness susceptibility locus at 20p11.	Male-pattern baldness	578 European ancestry cases, 547 European ancestry controls	1,351 European ancestry cases, 2,485 European ancestry controls	Xq12	AR	rs6625163-A	NR	5E-11		3.3	[2.31-4.71]	Affymetrix [370102]	N
1092	chrX	66563017	66563018	rs2497938	22693459	Li R	2012-05-31	PLoS Genet	Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.	Male-pattern baldness	3,891 European ancestry cases, 8,915 European ancestry controls	NA	Xq12	AR	rs2497938-T	0.850	2E-91		2.2	[2.04-2.37]	Affymetrix, Illumina [2391230] (imputed)	N
1092	chrX	66563017	66563018	rs2497938	22032556	Brockschmidt FF	2011-10-27	Br J Dermatol	Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness.	Male-pattern baldness	581 European ancestry male cases, 617 European ancestry male controls	461 European ancestry male cases, 151 European ancestry male controls	Xq12	AR, EDA2R	rs2497938	NR	3E-22		6.5	[4.30-9.82]	Illumina [560387]	N
1095	chrX	66942624	66942625	rs5031002	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	LDL cholesterol	4,763 Northern Finnish founder individuals	NA	Xq12	AR	rs5031002-A	0.02	2E-7		0.3	[0.18-0.41] mmol/l increase	Illumina [329091]	N
1096	chrX	67021549	67021550	rs5919432	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	Xq12	AR	rs5919432-A	0.81	1E-8		1.06	[1.02-1.12]	NR [2600000] (imputed)	N
1106	chrX	68377125	68377126	rs5937157	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	Xq13.1	PJA1	rs5937157-G	0.241	2E-10		1.066098	[1.05-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
1109	chrX	68798702	68798703	rs11796357	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		Xq13.1	FAM155E, EDA	rs11796357-G	NR	3E-22		0.25	[0.2-0.3] unit decrease	Illumina [2446724] (imputed)	N
1109	chrX	68798702	68798703	rs11796357	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		Xq13.1	FAM155E, EDA	rs11796357-G	NR	7E-19		0.199	[0.16-0.24] unit increase	Illumina [2446724] (imputed)	N
1109	chrX	68805317	68805318	rs4844096	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (number of teeth)	5,752 European ancestry related individuals	NA	Xq13.1	EDA	rs4844096-G	0.42	5E-11		0.73	% variance	Illumina [300766]	N
1110	chrX	68892915	68892916	rs5936487	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (time to first tooth eruption)	5,919 European ancestry related individuals	NA	Xq13.1	EDA	rs5936487-G	0.39	6E-11		0.5	[NR] % variance	Illumina [300766]	N
1120	chrX	70139849	70139850	rs6625711	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	Xq13.1	SLC7A	rs6625711-A	0.41	6E-7		1.04	[1.03-1.06]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1120	chrX	70139849	70139850	rs6625711	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	Xq13.1	SLC7A	rs6625711-A	0.41	6E-12	(EA)	1.07	[1.05-1.08]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1122	chrX	70407982	70407983	rs4844289	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	Xq13.1	NLGN3, BCYRN1	rs4844289-G	0.39	9E-8		1.04	[1.03-1.06]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1122	chrX	70407982	70407983	rs4844289	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	Xq13.1	NLGN3, BCYRN1	rs4844289-G	0.39	1E-9	(EA)	1.05	[1.04-1.07]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1123	chrX	70624794	70624795	rs182705894	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq13.1	NR	rs182705894-?	NR	3E-6	(Native Hawaiian)	0.8778	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1129	chrX	71329506	71329507	rs191209518	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq13.1	NR	rs191209518-?	NR	3E-8	(AA)	1.2269	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1159	chrX	75347433	75347434	rs5937496	19734901	van Es MA	2009-09-06	Nat Genet	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	2,323 European ancestry cases, 9,013 European ancestry controls	2,532 European ancestry cases, 5,940 European ancestry controls	Xq13.3	NR	rs5937496-?	0.13	6E-7		1.38	[NR]	Illumina [292768]	N
1160	chrX	75417010	75417011	rs5937507	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq13.3	NR	rs5937507-?	NR	2E-8	(Native Hawaiian)	1.2018	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1162	chrX	75634973	75634974	rs5938548	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq13.3	NR	rs5938548-?	NR	2E-7	(Native Hawaiian)	1.0852	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1163	chrX	75822037	75822038	rs192657641	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq13.3	NR	rs192657641-?	NR	1E-6	(Native Hawaiian)	0.9198	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1165	chrX	76046997	76046998	rs191870197	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.1	NR	rs191870197-?	NR	1E-6	(Native Hawaiian)	0.9067	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1167	chrX	76311125	76311126	rs4644421	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.1	NR	rs4644421-?	NR	1E-6	(Native Hawaiian)	0.9434	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1175	chrX	77462432	77462433	rs146228471	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.1	NR	rs146228471-?	NR	3E-6	(Native Hawaiian)	0.832	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1177	chrX	77595536	77595537	rs62612828	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.1	NR	rs62612828-?	NR	1E-6	(Native Hawaiian)	0.9761	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1179	chrX	77933932	77933933	rs139306621	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.1	NR	rs139306621-?	NR	2E-7	(AA)	0.9347	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1180	chrX	78110059	78110060	rs188085108	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.1	NR	rs188085108-?	NR	3E-6	(Native Hawaiian)	0.7341	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1182	chrX	78303469	78303470	rs147428850	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.1	NR	rs147428850-?	NR	8E-7	(Native Hawaiian)	0.8192	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1183	chrX	78497117	78497118	rs5912838	23612905	Zhao SX	2013-04-29	Hum Mol Genet	Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.	Graves' disease	1,442 Han Chinese ancestry cases, 1,468 Han Chinese ancestry controls	7,891 Han Chinese ancestry cases, 8,351 Han Chinese ancestry controls	Xq21.1	ITM2A, GPR174	rs5912838-?	0.58	2E-33		1.32	[1.25-1.37]	Illumina [8019905] (imputed)	N
1184	chrX	78532412	78532413	rs5912268	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.1	NR	rs5912268-?	NR	9E-7	(Native Hawaiian)	0.8072	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1185	chrX	78649192	78649193	rs1474563	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	Xq21.1	ITM2A	rs1474563-T	0.58	3E-6		3.5	[1.93-5.07] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1187	chrX	78930121	78930122	rs181869920	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.1	NR	rs181869920-?	NR	9E-11	(Native Hawaiian)	1.3873	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1208	chrX	81762693	81762694	rs7062395	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	Xq21.1	POU3F4	rs7062395-A	0.81	2E-6	(Right HG thickness)	0.0328	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1214	chrX	82535168	82535169	rs1410530	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	Xq21.1	NR	rs1410530-?	NR	4E-6		1.3746	[NR]	Affymetrix [722112]	N
1216	chrX	82711941	82711942	rs213443	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	Xq21.1	NR	rs213443-?	NR	6E-6		1.248	[NR]	Affymetrix [722112]	N
1217	chrX	82871194	82871195	rs5922838	22064162	Edwards AC	2011-11-05	Psychiatr Genet	Genome-wide association study of comorbid depressive syndrome and alcohol dependence.	Depression and alcohol dependence	467 European ancestry cases, 407 European ancestry controls	NA	Xq21.1	intergenic	rs5922838-?	NR	5E-6		2.17	[1.55-3.02]	Illumina [876476]	N
1217	chrX	82954489	82954490	rs5968205	22064162	Edwards AC	2011-11-05	Psychiatr Genet	Genome-wide association study of comorbid depressive syndrome and alcohol dependence.	Depression and alcohol dependence	467 European ancestry cases, 407 European ancestry controls	NA	Xq21.1	intergenic	rs5968205-?	NR	3E-6		2.2	[1.58-3.07]	Illumina [876476]	N
1234	chrX	85095738	85095739	rs5967638	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	Xq21.2	CHM	rs5967638-A	0.0658	8E-7		3.485	[NR] unit increase	Illumina [1216189] (imputed)	N
1234	chrX	85095738	85095739	rs5967638	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	Xq21.2	CHM	rs5967638-A	0.0665	1E-6		2.019	[NR] unit increase	Illumina [1216074] (imputed)	N
1242	chrX	86192002	86192003	rs2710057	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (hip)	6,865 European ancestry individuals	8,510 European ancestry individuals	Xq21.2	NR	rs2710057-T	0.67	1E-6		0.07	[0.04-0.09] s.d. decrease	Illumina [305051]	N
1250	chrX	87190348	87190349	rs12012519	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	Xq21.31	intergenic	rs12012519-?	NR	7E-6	(progression)			Illumina [NR]	N
1260	chrX	88530064	88530065	rs5941160	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	Xq21.31	CPXCR1	rs5941160-?	NR	2E-20				Affymetrix [NR]	N
1266	chrX	89288226	89288227	rs5941436	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	Xq21.31	RP13-140E4.1	rs5941436-?	NR	5E-6	(TrailsB)			Illumina [up to 563855]	N
1270	chrX	89804126	89804127	rs2755459	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	Xq21.31	TGIF2LX	rs2755459-?	NR	9E-14		1.67	[NR]	Affymetrix [NR]	N
1276	chrX	90654612	90654613	rs181551482	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.31	NR	rs181551482-?	NR	4E-6	(Native Hawaiian)	0.7179	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1277	chrX	90803677	90803678	rs146414513	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.31	NR	rs146414513-?	NR	7E-7	(Native Hawaiian)	0.8791	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1277	chrX	90812717	90812718	rs6618677	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	Xq21.31	PCDH11X, PABPC5, PCDH11Y	rs6618677-?	NR	4E-8		1.43	[NR]	Affymetrix [NR]	N
1282	chrX	91402219	91402220	rs2573905	19136949	Carrasquillo MM	2009-01-11	Nat Genet	Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.	Alzheimer's disease	844 European ancestry cases, 1,255 European ancestry controls	1,547 European ancestry cases, 1,209 European ancestry controls	Xq21.31	PCDH11X	rs2573905-?	0.46	2E-7		1.29	[1.17-1.42]	Illumina [313504]	N
1294	chrX	93056887	93056888	rs149432766	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq21.32	NR	rs149432766-?	NR	4E-8	(AA)	1.3762	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1310	chrX	95079869	95079870	rs5990417	20038947	Shyn SI	2009-12-29	Mol Psychiatry	Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.	Major depressive disorder (broad)	3,957 European ancestry cases, 3,428 European ancestry controls	NA	Xq21.33	NR	rs5990417-T	0.83	6E-6		1.23	[NR]	Affymetrix, Perlegen [2391203] (imputed)	N
1331	chrX	97864353	97864354	rs4827947	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	Xq21.33	LOC100128151	rs4827947-A		3E-7	(AA)			Illumina [NR]	N
1349	chrX	100214971	100214972	rs140386998	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq22.1	NR	rs140386998-?	NR	6E-7	(Native Hawaiian)	0.7379	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1389	chrX	105493918	105493919	rs379742	23143602	Whitcomb DC	2012-11-11	Nat Genet	Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.	Pancreatitis	676 European ancestry cases, 4,507 European ancestry controls	910 European ancestry cases, 4,170 European ancestry controls	Xq22.3	NR	rs379742-T	0.200	6E-7		1.203	[1.10-1.30]	Illumina [625739]	N
1389	chrX	105497858	105497859	rs144773023	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq22.3	NR	rs144773023-?	NR	3E-6	(Native Hawaiian)	0.8408	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1390	chrX	105597991	105597992	rs5916984	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq22.3	NR	rs5916984-?	NR	3E-6	(Native Hawaiian)	0.8342	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1394	chrX	106048067	106048068	rs140267713	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq22.3	NR	rs140267713-?	NR	2E-6	(Native Hawaiian)	0.8404	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1395	chrX	106244766	106244767	rs12688220	23143602	Whitcomb DC	2012-11-11	Nat Genet	Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.	Pancreatitis	676 European ancestry cases, 4,507 European ancestry controls	910 European ancestry cases, 4,170 European ancestry controls	Xq22.3	CLDN2, MORC4, RIPPLY1, TBC1D8B	rs12688220-T	0.261	2E-22		1.385	[1.28-1.49]	Illumina [625739]	N
1404	chrX	107413929	107413930	rs2295912	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	Xq22.3	COL4A6	rs2295912-?	NR	2E-6	(SCR Amplitude)	0.058	[0.034-0.082] unit increase	Illumina [527829]	N
1422	chrX	109820067	109820068	rs1573036	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	Xq23	TDGF3	rs1573036-T	0.031	4E-14	(Men + Women)	0.028	[0.021-0.035] umol/L increase	Affymetrix, Illumina [2543887] (imputed)	N
1422	chrX	109820067	109820068	rs1573036	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	Xq23	TDGF3	rs1573036-T	0.031	3E-16	(Men)	0.035	[0.027-0.043] umol/L increase	Affymetrix, Illumina [2543887] (imputed)	N
1423	chrX	109939204	109939205	rs5943057	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	Xq23	intergenic	rs5943057-?	NR	9E-7				Illumina [574919]	N
1433	chrX	111155232	111155233	rs7050529	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	Xq23	TRPC5	rs7050529-?	0.07	6E-6	(CPD)	0.06	[NR] cigarettes per day decrease	Illumina [~ 518000]	N
1436	chrX	111646463	111646464	rs5982533	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	Xq23	ZCCHC16	rs5982533-G	0.22	7E-6	(triglycerides)	0.23	[0.13-0.33] mmol/L decrease	Illumina [316730]	N
1464	chrX	115302191	115302192	rs1403543	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	Xq23	AGTR2	rs1403543-A	0.51	2E-6				Illumina [~ 2609000] (imputed)	N
1471	chrX	116222262	116222263	rs6646773	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	Xq23	intergenic	rs6646773-C	0.076	1E-6	(EA + AA - GSE)			Affymetrix [421789]	N
1476	chrX	116869913	116869914	rs5910235	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	Xq24	intergenic	rs5910235-G		7E-6		0.2785	unit increase	Illumina [5767231] (imputed)	N
1478	chrX	117088055	117088056	rs2430212	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	Xq24	KLHL13	rs2430212-?	NR	2E-6	(serum transferrin)			Illumina [315887]	N
1487	chrX	118264401	118264402	rs5957117	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq24	NR	rs5957117-?	NR	6E-7	(Native Hawaiian)	0.9688	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1489	chrX	118567701	118567702	rs5910578	21623375	Albagha OM	2011-05-29	Nat Genet	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.	Paget's disease	741 European ancestry cases, 2,699 European ancestry controls	1,474 European ancestry cases, 1,671 European ancestry controls	Xq24	SLC25A43	rs5910578-C	0.74	1E-7		1.34	[NR]	Illumina [2487078] (imputed)	N
1490	chrX	118716986	118716987	rs7879933	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		Xq24	UBE2A	rs7879933-?	NR	2E-10	(strength - R-inferior parietal)			Illumina [428287]	N
1499	chrX	119867474	119867475	rs1972809	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	Xq24	intergenic	rs1972809-?	NR	1E-24		1.28	[NR]	Affymetrix [NR]	N
1499	chrX	119886741	119886742	rs5956244	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	Xq24	intergenic	rs5956244-?	NR	6E-6	(Alpha peak frequency, occipital	0.051	[0.029-0.073] unit increase	Illumina [527829]	N
1515	chrX	121967358	121967359	rs4559365	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	Xq25	intergenic	rs4559365-A		9E-6		0.2955	unit decrease	Illumina [5767231] (imputed)	N
1531	chrX	124073661	124073662	rs7060947	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	Xq25	ODZ1	rs7060947-G		1E-7	(AA)			Illumina [NR]	N
1561	chrX	128052265	128052266	rs5975063	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq25	NR	rs5975063-?	NR	5E-6	(Native Hawaiian)	0.9373	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1569	chrX	129104733	129104734	rs2361405	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	Xq26.1	BCORL1	rs2361405-A	0.89	5E-6	(Age 20-60 years)	0.0677	[0.038-0.097] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1570	chrX	129199811	129199812	rs3788848	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	Xq26.1	BCORL1	rs3788848-?	NR	3E-6	(DMFS5,DMFS5max)			Illumina [518997]	N
1592	chrX	132024503	132024504	rs7892161	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	Xq26.2	HS6ST2	rs7892161-T	0.54	9E-6	(Age 20-60 years)	0.0413	[0.023-0.060] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1593	chrX	132137155	132137156	rs17324272	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	Xq26.2	intergenic	rs17324272-?	NR	2E-7	(progression)			Illumina [NR]	N
1600	chrX	133125790	133125791	rs7883190	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill	2,666 European ancestry individuals	NA	Xq26.2	GPC3	rs7883190-?	0.62	2E-6		0.12	[0.071-0.169] unit increase	Illumina [NR]	N
1602	chrX	133322603	133322604	rs765132	20014019	Dubinsky MC	2010-08-01	Inflamm Bowel Dis	Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.	Response to anti-TNF alpha therapy in inflammatory bowel disease	94 pediatric cases	NA	Xq26.2	NR	rs765132-?	NR	1E-6		35.0	[NR]	Illumina [301742]	N
1602	chrX	133345287	133345288	rs12850804	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	Xq26.2	CCDC160	rs12850804-T	0.1345	2E-6		0.7501	[NR] unit increase	Illumina [1216074] (imputed)	N
1607	chrX	134078168	134078169	rs137986605	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq26.3	NR	rs137986605-?	NR	8E-8	(Latino)	0.6545	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1615	chrX	135133960	135133961	rs150889544	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	Xq26.3	NR	rs150889544-?	NR	3E-6	(Latino)	0.8548	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1623	chrX	136055294	136055295	rs1190739	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	Xq26.3	intergenic	rs1190739-T	0.27	5E-6		0.0731	[0.042-0.104] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1638	chrX	138117408	138117409	rs10521792	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	Xq27.1	FGF13	rs10521792-?	NR	2E-7				Affymetrix, Illumina [~ 1300000]	N
1646	chrX	139166682	139166683	rs5907577	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	Xq27.1	NR	rs5907577-?	NR	5E-6		1.2743	[NR]	Affymetrix [722112]	N
1647	chrX	139314055	139314056	rs5955415	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	Xq27.1	NR	rs5955415-?	NR	2E-6		1.4612	[NR]	Affymetrix [722112]	N
1663	chrX	141360570	141360571	rs5954596	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	Xq27.2	MAGEC2	rs5954596-?	NR	5E-9				Affymetrix [NR]	N
1670	chrX	142253295	142253296	rs139618469	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	Xq27.3	NR	rs139618469-?	NR	4E-7		0.4553	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1674	chrX	142842118	142842119	rs139956886	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	Xq27.3	intergenic	rs139956886-C	0.98	6E-6		8.3333	[NR]	Affymetrix [up to 4467279] (imputed)	N
1678	chrX	143364653	143364654	rs6637197	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	Xq27.3	intergenic	rs6637197-?		1E-6	(EA)	14.9	[NR]	Illumina [936149]	N
1684	chrX	144141318	144141319	rs6627057	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	Xq27.3	CYCSP44	rs6627057-?	NR	1E-6		1.4569	[NR]	Affymetrix [722112]	N
1685	chrX	144209518	144209519	rs566103	25089948	Theusch E	2014-10-01	Pharmacogenet Genomics	Ancestry and other genetic associations with plasma PCSK9 response to simvastatin.	Response to simvastatin treatment (PCSK9 protein level change)	562 European ancestry individuals	287 African American individuals	Xq27.3	SPANXN1	rs566103-G	0.235	6E-6	(EA)	0.12	[NR] unit decrease	Illumina [570422]	N
1696	chrX	145748907	145748908	rs381365	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	Xq27.3	LOC100128265	rs381365-A		2E-12	(AA)			Illumina [NR]	N
1701	chrX	146322622	146322623	rs5904726	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	Xq27.3	intergenic	rs5904726-A	0.47	9E-6		0.0639	[0.036-0.092] unit increase	Affymetrix [~ 2740000] (imputed)	N
1706	chrX	147042773	147042774	rs5904818	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	Xq27.3	FMR1, FMR1NB	rs5904818-?	NR	2E-8				Affymetrix [NR]	N
1708	chrX	147324255	147324256	rs5936441	21177773	Moyer AM	2010-12-22	Toxicol Sci	Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study.	Response to acetaminophen (hepatotoxicity)	60 European ancestry lymphoblastoid cell lines, 56 African American lymphoblastoid cell lines, 60 Han Chinese American lymphoblastoid cell lines	NA	Xq28	LOC100129661	rs5936441-?	0.36	5E-6				Affymetrix, Illumina [1348864]	N
1709	chrX	147381020	147381021	rs2159767	18347602	Sullivan PF	2008-03-18	Mol Psychiatry	Genomewide association for schizophrenia in the CATIE study: results of stage 1.	Schizophrenia	417 European ancestry cases, 411 European ancestry controls, 217 African American cases, 219 African American controls, 104 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry cases, 103 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry controls	NA	Xq28	intergenic	rs2159767-?	0.62	7E-6		1.33	[NR]	Affymetrix [492900]	N
1717	chrX	148462071	148462072	rs17325431	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	Xq28	intergenic	rs17325431-?		3E-6	(overall survival)	2.47	[1.69-3.61]	Illumina [729737]	N
1718	chrX	148567450	148567451	rs530501	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	Xq28	IDS	rs530501-?	NR	4E-6	(TrailsA)			Illumina [up to 563855]	N
1726	chrX	149635294	149635295	rs17252936	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	Xq28	MAMLD1	rs17252936-G		6E-10	(AA)			Illumina [NR]	N
1730	chrX	150114169	150114170	rs5969978	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	Xq28	intergenic	rs5969978-?	NR	4E-6	(Theta power, Cz)	0.064	[0.037-0.091] unit increase	Illumina [527829]	N
1742	chrX	151655561	151655562	rs10856240	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	Xq28	AC108171.5	rs10856240-?	0.2913	9E-6	(PC1)			Illumina [475971]	N
1751	chrX	152862637	152862638	rs12010175	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	Xq28	FAM58A	rs12010175-G	0.786	2E-9		1.21	[1.14-1.28]	Illumina [2234194] (imputed)	N
1751	chrX	152899921	152899922	rs5945326	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	Xq28	DUSP9	rs5945326-A	0.68	2E-12		1.14	[1.10-1.18]	Illumina [6209637] (imputed)	N
1751	chrX	152899921	152899922	rs5945326	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	Xq28	DUSP9	rs5945326-A	0.606	7E-16		1.18	[1.13-1.23]	Illumina [2234194] (imputed)	N
1751	chrX	152899921	152899922	rs5945326	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	Xq28	DUSP9	rs5945326-A		3E-10		1.27	[1.18-1.37]	Affymetrix, Illumina [2426886] (imputed)	N
1752	chrX	153006494	153006495	rs11156606	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	Xq28	NR	rs11156606-?	NR	3E-6		1.4169	[NR]	Affymetrix [722112]	N
1753	chrX	153207544	153207545	rs2269372	24043878	Wong EH	2013-09-16	Schizophr Bull	Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.	Schizophrenia	481 Han Chinese ancestry cases, 2,025 Han Chinese ancestry controls	1,088 Han Chinese ancestry cases, 1,063 Han Chinese ancestry controls	Xq28	RENBP, MECP2, ARHGAP4	rs2269372-A	NR	4E-8		1.313	[NR]	Illumina [2383054] (imputed)	N
1754	chrX	153301466	153301467	rs5987194	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	Xq28	IRAK1	rs5987194-C	0.36	5E-16		1.16	[1.12-1.20]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1754	chrX	153301466	153301467	rs5987194	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	Xq28	IRAK1	rs5987194-C	0.13	3E-12	(EA)	1.16	[1.12-1.21]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1756	chrX	153554403	153554404	rs766420	19419973	Sanna S	2009-05-06	Hum Mol Genet	Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.	Bilirubin levels	4,300 Sardinian individuals	1,860 Sardinian individuals, 832 Old Order Amish individuals	Xq28	G6PD	rs766420-G	0.18	9E-9		0.18	[0.12-0.24] s.d. decrease	Affymetrix [362129]	N
1758	chrX	153764216	153764217	rs1050828	23696099	Ding K	2013-05-20	G3 (Bethesda)	Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.	Red blood cell traits	1904 African American individuals	411 African American individuals	Xq28	G6PD	rs1050828-A	0.12	9E-9	(MCH)	0.72	[0.48-0.96] pg increase	Illumina [907954]	N
1758	chrX	153764216	153764217	rs1050828	23696099	Ding K	2013-05-20	G3 (Bethesda)	Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.	Red blood cell traits	1904 African American individuals	411 African American individuals	Xq28	G6PD	rs1050828-A	0.12	4E-13	(RBC count)	0.2	[0.14-0.26] x10^12/L decrease	Illumina [907954]	N
1758	chrX	153764216	153764217	rs1050828	23696099	Ding K	2013-05-20	G3 (Bethesda)	Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.	Red blood cell traits	1904 African American individuals	411 African American individuals	Xq28	G6PD	rs1050828-A	0.12	1E-14	(MCV)	2.46	[1.83-3.09] fL increase	Illumina [907954]	N
1758	chrX	153764216	153764217	rs1050828	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	Xq28	G6PD	rs1050828-T	0.116	2E-11	(RDW, AA)	0.0326	[0.023-0.042] % decrease	Affymetrix, Illumina [NR]	N
1758	chrX	153764216	153764217	rs1050828	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	Xq28	F8, CTAG2, G6PD, MECP2, MPP1	rs1050828-T	0.108	4E-19	(RBC, AA)	0.108	[0.0063-0.2097] x10^6/uL, decrease	Affymetrix, Illumina [NR]	N
1758	chrX	153764662	153764663	rs762516	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	Xq28	TKTL1, G6PD, MECP2, MPP1	rs762516-T	0.148	2E-16	(Ht, AA)	0.452	[0.34-0.56] % decrease	Affymetrix, Illumina [NR]	N
1758	chrX	153764662	153764663	rs762516	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	Xq28	TKTL1, G6PD, MECP2, MPP1	rs762516-T	0.146	4E-18	(Hgb, AA)	0.1614	[0.12-0.2] g/dL decrease	Affymetrix, Illumina [NR]	N
1758	chrX	153764662	153764663	rs762516	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	Xq28	F8, FAM3A, G6PD, MPP1	rs762516-T	0.137	4E-14	(MCV, AA)	1.5768	[1.17-1.99] fL increase	Affymetrix, Illumina [NR]	N
1759	chrX	153945601	153945602	rs2664170	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	Xq28	intergenic	rs2664170-G	0.32	8E-9		1.16	[1.07-1.24]	Affymetrix, Illumina [841622] (imputed)	N
1760	chrX	154014106	154014107	rs5987027	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	Xq28	MPP1	rs5987027-T	0.2462	4E-10	(AA)	0.9159	[0.63-1.2] unit increase	Illumina [544917]	N
1760	chrX	154014106	154014107	rs5987027	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	Xq28	MPP1	rs5987027-T	0.2462	1E-11	(AA, RBC)	0.0745	[0.053-0.096] unit decrease	Illumina [544917]	N
1761	chrX	154233773	154233774	rs17281398	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	Xq28	F8	rs17281398-?	NR	4E-7				Affymetrix [NR]	N
592	chrY	940179	940180	rs4129148	17522711	Lencz T	2007-03-20	Mol Psychiatry	Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.	Schizophrenia	178 European ancestry cases, 144 European ancestry controls	NA	Xp22.33	CSF2RA, IL3RA	rs4129148-C	NR	4E-7		3.23	[2.04-5.15]	Affymetrix [439511]	N
587	chr10	318075	318076	rs12246027	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10p15.3	DIP2C	rs12246027-A	0.27	1E-10	(X-13548)	0.012	[0.0081-0.0159] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
589	chr10	566378	566379	rs11252926	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis in Alzheimer's disease	1,039 European ancestry cases with psychosis, 610 European ancestry cases without psychosis, 260 European, African American and Native American ancestry cases with psychosis and 125 European, African American and Native American ancestry cases without psychosis from 264 families	NA	10p15.3	DIP2C	rs11252926-?	0.64	8E-6		1.3888888	[NR]	Illumina [1882172] (imputed)	N
589	chr10	618684	618685	rs17221323	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	10p15.3	DIP2C	rs17221323-G		1E-7	(AA)			Illumina [NR]	N
590	chr10	759267	759268	rs7916968	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10p15.3	intergenic	rs7916968-G	0.09	7E-6		1.09	[1.05-1.13]	Affymetrix, Illumina [~ 2300000] (imputed)	N
590	chr10	771531	771532	rs877282	23703922	Li WD	2013-01-02	Obesity (Silver Spring)	A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.	Uric acid levels	487 European ancestry obese individuals, 472 non-obese individuals	NA	10p15.3	DIP2C	rs877282-?	NR	5E-8	(Obese)			Illumina [~ 550000]	N
591	chr10	837406	837407	rs1555895	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	10p15.3	intergenic	rs1555895-?		3E-6	(overall survival)	2.94	[1.85-4.55]	Illumina [729737]	N
593	chr10	1078781	1078782	rs12762955	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	10p15.3	C10orf110	rs12762955-C	NR	8E-6	(EA)	1.17	[0.62-1.72] unit decrease	Affymetrix [~ 2300000] (imputed)	N
593	chr10	1156164	1156165	rs10794720	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	10p15.3	WDR37	rs10794720-T	0.08	1E-8	(eGFRcrea)	0.01	[0.010-0.018] ml/min/1.73 m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
594	chr10	1246882	1246883	rs4880487	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10p15.3	intergenic	rs4880487-T	0.25	3E-6		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
595	chr10	1343016	1343017	rs11599315	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	10p15.3	WDR37	rs11599315-T	0.37	5E-6	(AA-glucose response)	3.88	[2.21-5.55] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
595	chr10	1406363	1406364	rs11250464	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	10p15.3	ADARB2	rs11250464-?	0.18	6E-6				Affymetrix, Illumina [1348798]	N
596	chr10	1452785	1452786	rs17293817	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10p15.3	NR	rs17293817-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
596	chr10	1471764	1471765	rs2820651	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	10p15.3	intergenic	rs2820651-A	0.1	4E-7		1.22	[1.13-1.31]	Affymetrix, Illumina [~ 2300000] (imputed)	N
597	chr10	1630820	1630821	rs2999399	20709820	Kong X	2010-08-13	Am J Respir Crit Care Med	Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.	Emphysema-related traits	2,383 European ancestry cases	NA	10p15.3	ADARB2	rs2999399-T	0.76	6E-6	(qualitative)	1.47	[NR]	Illumina [499578]	N
597	chr10	1637135	1637136	rs6560743	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	10p15.3	ADARB2	rs6560743-?	NR	8E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
597	chr10	1676530	1676531	rs6560749	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	10p15.3	ADARB2	rs6560749-T	0.14	8E-6	(% body fat)	0.34	[NR] % decrease	Affymetrix [408775]	N
597	chr10	1676530	1676531	rs6560749	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	10p15.3	ADARB2	rs6560749-T	0.14	2E-6	(BMI)	0.32	[NR] kg/m2 decrease	Affymetrix [408775]	N
598	chr10	1731870	1731871	rs1874984	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	10p15.3	ADARB2	rs1874984-C	0.47	2E-12		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
599	chr10	1897977	1897978	rs12360000	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	10p15.3	LOC100129465	rs12360000-A		6E-6		0.14	[0.08-0.20] unit increase	Affymetrix [~ 2500000] (imputed)	N
602	chr10	2357701	2357702	rs12412942	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	10p15.3	LINC00701	rs12412942-A	NR	8E-7		1.2820514	[NR]	Illumina [up to 9792010] (imputed)	N
603	chr10	2424555	2424556	rs12571964	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p15.3	intergenic	rs12571964-A	0.21	9E-6	(Gestational age )	0.05	[NR] wk increase	Illumina [899892]	N
604	chr10	2532018	2532019	rs729397	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	10p15.3	LOC727878, LOC728209, LOC441546	rs729397-C	0.26	8E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
604	chr10	2542388	2542389	rs9329289	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	10p15.3	intergenic	rs9329289-?		6E-6	(PC1)	0.0999	[NR] unit increase	Illumina [4167292] (imputed)	N
606	chr10	2776697	2776698	rs79619559	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10p15.3	NR	rs79619559-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
606	chr10	2789593	2789594	rs9329300	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	10p15.3	PFKP	rs9329300-?	0.19	2E-9		3.1004	[2.25-4.27]	Illumina [859311]	N
606	chr10	2861077	2861078	rs11595500	26015512	Komatsu M	2015-05-26	Clin Cancer Res	Pharmacoethnicity in Paclitaxel-Induced Sensory Peripheral Neuropathy.	Paclitaxel-induced cytotoxicity	57 Japanese ancestry lymphoblastoid cell lines, 59 Han Chinese ancestry lymphoblastoid cell lines	77 European ancestry lymphoblastoid cell lines, 87 Yoruban ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines	10p15.3	intergenic	rs11595500-?	NR	4E-8		0.212	[NR] unit decrease	NR [~ 4600000] (imputed)	N
609	chr10	3155172	3155173	rs7896691	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	10p15.2	PFKP	rs7896691-C	0.10	2E-6		0.17	[0.10-0.24] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
610	chr10	3284006	3284007	rs2764980	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	10p15.2	PITRM1	rs2764980-A	0.51	9E-6				Perlegen [378332]	N
611	chr10	3408946	3408947	rs17135159	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	10p15.2	BC037918	rs17135159-A	0.80	2E-6		0.107	[0.062-0.152] unit increase	Illumina [~ 2400000] (imputed)	N
611	chr10	3418123	3418124	rs1570854	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	10p15.2	intergenic	rs1570854-T	NR	7E-6		0.079	[0.044-0.114] unit increase	Illumina [628922]	N
611	chr10	3516104	3516105	rs2165468	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Bone mineral density	Up to 1,141 individuals from 241 families	NA	10p15.2	intergenic	rs2165468-?	NR	1E-6	(FNBMDm)			Affymetrix [70897]	N
611	chr10	3538793	3538794	rs7092929	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	10p15.2	KLF6	rs7092929-A	0.26	3E-7	(AA)	0.21	[0.13-0.29] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
612	chr10	3658918	3658919	rs705469	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	10p15.2	intergenic	rs705469-?	NR	7E-6				NR [~ 2000000]	N
612	chr10	3667725	3667726	rs705471	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	10p15.2	intergenic	rs705471-?	NR	7E-6				NR [~ 2000000]	N
614	chr10	3804256	3804257	rs10508264	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	10p15.2	LOC100287172	rs10508264-?		2E-6				Illumina [859311]	N
614	chr10	3821560	3821561	rs17731	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10p15.2	NR	rs17731-A	NR	2E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
614	chr10	3862541	3862542	rs6601764	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	10p15.1	NR	rs6601764-C	0.41	9E-6		1.16	[1.01-1.33]	Affymetrix [469557]	N
615	chr10	4001896	4001897	rs2031573	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		10p15.1	intergenic	rs2031573-?	NR	7E-6				Illumina [~ 2400000] (imputed)	N
615	chr10	4050002	4050003	rs2031577	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	10p15.1	RP11-433J20.2	rs2031577-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
616	chr10	4137660	4137661	rs10904180	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	10p15.1	intergenic	rs10904180-T	0.82	8E-6		0.026	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
616	chr10	4151120	4151121	rs10795130	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Sex hormone-binding globulin levels	1,598 European ancestry female individuals	NA	10p15.1	intergenic	rs10795130-G	0.13	7E-6		0.103	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
617	chr10	4240869	4240870	rs11252394	23508266	Duan QL	2013-03-19	Pharmacogenomics J	A genome-wide association study of bronchodilator response in asthmatics.	Asthma (bronchodilator response)	Up to 403 European ancestry asthmatic children and their parents	764 European ancestry cases, 592 Costa Rican ancestry cases	10p15.1	PRKCQ, IL2RA, IL15RA, KLF6	rs11252394-A	0.08	2E-7	(Additive Model)			Illumina [534290]	N
620	chr10	4655564	4655565	rs10458787	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Body mass index	11,536 European ancestry individuals	NA	10p15.1	intergenic	rs10458787-G	0.76	1E-6		0.09	[0.04-0.14] SD increase	Illumina [559712] (imputed)	N
620	chr10	4676195	4676196	rs7086888	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		10p15.1	NR	rs7086888-G	0.07	8E-6	(non t11;14 and t4;14 IgH translocations vs. controls)	1.87	[1.42-2.46]	Illumina [414804] (imputed)	N
620	chr10	4716541	4716542	rs2165953	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p15.1	LOC338588	rs2165953-G	0.153	9E-6	(Sedentary activity )	0.02	[NR] min/d increase	Illumina [899892]	N
621	chr10	4719795	4719796	rs1391511	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	10p15.1	AKR1E2, LOC338588	rs1391511-?	0.36	7E-6		1.84	[1.41-2.40]	Illumina [346110]	N
621	chr10	4809074	4809075	rs17133587	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	10p15.1	AKR1E2	rs17133587-?	NR	5E-9	(Latino)	1.8	[1.61-2.00]	Affymetrix, Illumina [NR] (imputed)	N
621	chr10	4809074	4809075	rs17133587	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	10p15.1	AKR1E2	rs17133587-?	NR	1E-6		1.45	[1.25-1.69]	Affymetrix, Illumina [NR] (imputed)	N
622	chr10	4920412	4920413	rs10904363	24827717	Yang F	2014-05-01	Biomed Environ Sci	Genome wide association study: searching for genes underlying body mass index in the Chinese.	Body mass index	597 Han Chinese ancestry individuals	2,955 Han Chinese ancestry individuals	10p15.1	AKR1CL2	rs10904363-?	NR	3E-6				Affymetrix [281533]	N
622	chr10	4965433	4965434	rs4332428	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	10p15.1	AKR1C1	rs4332428-A	0.879	2E-15		0.036	[0.026-0.046] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
623	chr10	5009758	5009759	rs2904804	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	10p15.1	AKR1C1	rs2904804-T	NR	6E-6		0.117	[0.066-0.168] unit increase	Illumina [628922]	N
624	chr10	5138035	5138036	rs2518049	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	10p15.1	AKR1C	rs2518049-A	0.175	7E-13	(SM-13)	0.07	[NR] unit decrease	Affymetrix, Illumina [534665]	N
625	chr10	5254846	5254847	rs1832007	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	10p15.1	AKR1C4	rs1832007-G	0.18	2E-12		0.033	[NR] mg/dL decrease	NR [NR] (imputed)	N
625	chr10	5256271	5256272	rs17134585	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	10p15.1	AKR1C4	rs17134585-T	0.84	3E-38	(androsterone sulfate/epiandrosterone sulfate)	0.043	[0.037-0.049] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
625	chr10	5348336	5348337	rs1987511	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	10p15.1	UCN3	rs1987511-?,rs7475343-?,rs9423406-?,rs7896729-?	NR	9E-8	(Depression; med response/addiction)			Illumina [795637]	N
625	chr10	5349870	5349871	rs7475343	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	10p15.1	UCN3	rs1987511-?,rs7475343-?,rs9423406-?,rs7896729-?	NR	9E-8	(Depression; med response/addiction)			Illumina [795637]	N
625	chr10	5353689	5353690	rs9423406	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	10p15.1	UCN3	rs1987511-?,rs7475343-?,rs9423406-?,rs7896729-?	NR	9E-8	(Depression; med response/addiction)			Illumina [795637]	N
625	chr10	5354676	5354677	rs7896729	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	10p15.1	UCN3	rs1987511-?,rs7475343-?,rs9423406-?,rs7896729-?	NR	9E-8	(Depression; med response/addiction)			Illumina [795637]	N
627	chr10	5608201	5608202	rs7899101	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	10p15.1	ASB13	rs7899101-?		3E-6				Illumina [859311]	N
628	chr10	5665773	5665774	rs17141741	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	10p15.1		rs17141741-?,rs2386661-?,rs4414128-?	0.78	5E-6	(Haplotype - ???)	1.27	[1.14-1.39]	Illumina [1006480]	N
628	chr10	5670274	5670275	rs2386661	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	10p15.1		rs17141741-?,rs2386661-?,rs4414128-?	0.78	5E-6	(Haplotype - ???)	1.27	[1.14-1.39]	Illumina [1006480]	N
628	chr10	5672018	5672019	rs4414128	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	10p15.1		rs17141741-?,rs2386661-?,rs4414128-?	0.78	5E-6	(Haplotype - ???)	1.27	[1.14-1.39]	Illumina [1006480]	N
629	chr10	5804530	5804531	rs2797501	23727862	Savage SA	2013-06-02	Nat Genet	Genome-wide association study identifies two susceptibility loci for osteosarcoma.	Osteosarcoma	694 European ancestry cases, 2,703 European ancestry controls	247 European ancestry cases, 550 European ancestry controls	10p15.1	C10orf18, GDI2	rs2797501-A	NR	8E-6		1.61	[1.30-1.96]	Illumina [698968]	N
629	chr10	5886733	5886734	rs2380205	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	10p15.1	ANKRD16, FBXO18	rs2380205-C	0.57	5E-7		1.06	[1.02-1.10]	Illumina [582886]	N
630	chr10	5918431	5918432	rs17145612	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p15.1	ANKRD16	rs17145612-A	0.0080	6E-6	(Head circumference )	0.01	[NR] cm increase	Illumina [899892]	N
630	chr10	6027720	6027721	rs8177757	26293465	Durda P	2015-08-20	Arterioscler Thromb Vasc Biol	Plasma Levels of Soluble Interleukin-2 Receptor ?: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan.	Soluble interleukin-2 receptor subunit alpha	2,964 European ancestry individuals, 683 African American individuals	4,464 European ancestry individuals	10p15.1	IL15RA, IL2RA	rs8177757-?		2E-10	(EA, conditioned on rs7911500 and rs791590)			Illumina [2200000] (imputed)	N
631	chr10	6037725	6037726	rs7911500	26293465	Durda P	2015-08-20	Arterioscler Thromb Vasc Biol	Plasma Levels of Soluble Interleukin-2 Receptor ?: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan.	Soluble interleukin-2 receptor subunit alpha	2,964 European ancestry individuals, 683 African American individuals	4,464 European ancestry individuals	10p15.1	IL2RA, IL15RA, RMB17	rs7911500-?		1E-100	(EA)			Illumina [2200000] (imputed)	N
631	chr10	6037725	6037726	rs7911500	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	10p15.1	IL2RA	rs7911500-?	NR	5E-9	(hsCRP-IL6 pattern prefenofibrate)			Affymetrix [2543887] (imputed)	N
631	chr10	6053162	6053163	rs12722605	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	10p15.1	IL2RA	rs12722605-?	NR	3E-7	(MCP1-TNF-a pattern postfenofibrate)			Affymetrix [2543887] (imputed)	N
631	chr10	6067687	6067688	rs2025345	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	10p15.1	intergenic	rs2025345-G	0.3743	3E-6		0.0572	[0.033-0.081] unit decrease	Illumina [2400000] (imputed)	N
631	chr10	6070538	6070539	rs12722556	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10p15.1	IL2RA, IL15RA, RBM17	rs12722556-A	0.019	2E-6		4.6	[2.31-9.16]	Illumina [1556551]	N
631	chr10	6081229	6081230	rs12722515	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10p15.1	NR	rs12722515-C	0.84	5E-12	(EA)	1.1039582		Affymetrix, Illumina [~ 9000000] (imputed)	N
631	chr10	6081229	6081230	rs12722515	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10p15.1	NR	rs12722515-A	0.84	8E-13	(EA)	1.1332967		Affymetrix, Illumina [~ 9000000] (imputed)	N
631	chr10	6081229	6081230	rs12722515	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10p15.1	IL2RA, IL15RA	rs12722515-C	0.849	4E-10		1.102	[1.06-1.147]	Affymetrix, Illumina [1230000] (imputed)	N
631	chr10	6090321	6090322	rs791590	26293465	Durda P	2015-08-20	Arterioscler Thromb Vasc Biol	Plasma Levels of Soluble Interleukin-2 Receptor ?: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan.	Soluble interleukin-2 receptor subunit alpha	2,964 European ancestry individuals, 683 African American individuals	4,464 European ancestry individuals	10p15.1	IL2RA	rs791590-?		7E-35	(EA, conditioned on rs7911500)			Illumina [2200000] (imputed)	N
631	chr10	6094696	6094697	rs61839660	22293688	Huang J	2012-02-01	Eur J Hum Genet	1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.	Type 1 diabetes	16,179 European ancestry individuals	NA	10p15.1	IL2RA	rs61839660-?	NR	5E-9		1.6	[1.44-1.76]	NR [6233112] (imputed)	N
631	chr10	6097282	6097283	rs12722495	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	10p15.1	IL2RA	rs12722495-A	NR	1E-38	(T1D)	1.61	[NR]	Affymetrix, Illumina [NR]	N
631	chr10	6098823	6098824	rs706779	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	10p15.1	RBM17, IL2RA, PFKB3	rs706779-A	0.535	3E-9		1.27	[1.17-1.37]	Illumina [520460]	N
631	chr10	6098948	6098949	rs706778	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p15.1	IL2RA	rs706778-T	0.45	5E-14		1.1	[1.07-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
631	chr10	6098948	6098949	rs706778	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p15.1	IL2RA	rs706778-T	0.4	5E-15	(EA)	1.12	[1.09-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
631	chr10	6098948	6098949	rs706778	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	10p15.1	IL2RA	rs706778-T	0.40	1E-11		1.14	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
631	chr10	6099044	6099045	rs2104286	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	10p15.1	IL2RA	rs2104286-?		1E-6		1.19	[1.11-1.28]	Affymetrix, Illumina [1831729] (imputed)	N
631	chr10	6099044	6099045	rs2104286	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	10p15.1	IL2RA	rs2104286-A	0.73	7E-6		1.16	[NR]	Illumina [302098]	N
631	chr10	6099044	6099045	rs2104286	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	10p15.1	IL2RA	rs2104286-T	0.76	9E-8		1.15	[1.04-1.27]	Affymetrix, Illumina [~ 2560000] (imputed)	N
631	chr10	6101712	6101713	rs3118470	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	10p15.1	IL2RA	rs3118470-G	NR	3E-11		1.12	[1.1-1.13]	Illumina [465434]	N
631	chr10	6101712	6101713	rs3118470	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	10p15.1	IL2RA	rs3118470-G	0.30	2E-12		1.41	[1.27-1.56]	Illumina [463301]	N
631	chr10	6102011	6102012	rs12722489	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	10p15.1	IL2RA	rs12722489-C	0.85	4E-8		1.23	[NR]	Affymetrix, Illumina [2529394]	N
631	chr10	6102011	6102012	rs12722489	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	10p15.1	IL2RA	rs12722489-C	0.852	3E-9		1.11	[1.05-1.16]	Affymetrix, Illumina [953241] (imputed)	N
631	chr10	6102011	6102012	rs12722489	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	10p15.1	IL2RA	rs12722489-C	0.85	3E-8		1.25	[1.11-1.36]	Affymetrix [334923]	N
631	chr10	6103761	6103762	rs12722486	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	10p15.1	IL2RA	rs12722486-?		2E-9	(EA)	38.2	[NR]	Illumina [936149]	N
631	chr10	6110828	6110829	rs7090512	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	10p15.1	IL2RA	rs7090512-G	NR	5E-20	(Conditioned on rs3118470)	1.19	[1.17-1.21]	Illumina [465434]	N
631	chr10	6114009	6114010	rs10905716	26293465	Durda P	2015-08-20	Arterioscler Thromb Vasc Biol	Plasma Levels of Soluble Interleukin-2 Receptor ?: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan.	Soluble interleukin-2 receptor subunit alpha	2,964 European ancestry individuals, 683 African American individuals	4,464 European ancestry individuals	10p15.1	IL2RA, RBM17	rs10905716-?		3E-9	(EA, conditioned on rs7911500, rs791590 and rs8177757)			Illumina [2200000] (imputed)	N
631	chr10	6123494	6123495	rs12251307	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	10p15.1	IL2RA	rs12251307-?	NR	1E-13				Affymetrix, Illumina [841622] (imputed)	N
631	chr10	6123494	6123495	rs12251307	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	10p15.1	IL2RA	rs12251307-T	NR	2E-6				Affymetrix [up to 335565]	N
631	chr10	6124620	6124621	rs41295115	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	10p15.1	RBM17, IL2RA	rs41295115-C		5E-7		1.2769	[1.18-1.37]	Illumina [up to 4972397] (imputed)	N
632	chr10	6173692	6173693	rs7924005	26293465	Durda P	2015-08-20	Arterioscler Thromb Vasc Biol	Plasma Levels of Soluble Interleukin-2 Receptor ?: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan.	Soluble interleukin-2 receptor subunit alpha	2,964 European ancestry individuals, 683 African American individuals	4,464 European ancestry individuals	10p15.1	LOC101928080, RBM17	rs7924005-?		4E-10	(EA, conditioned on on rs7911500, rs791590, rs8177757 and rs10905716)			Illumina [2200000] (imputed)	N
632	chr10	6237155	6237156	rs11257188	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		10p15.1	PFKFB3	rs11257188-?	NR	9E-6		2.19	[NR]	Illumina [up to 810372] (imputed)	N
633	chr10	6315793	6315794	rs7077335	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		10p15.1	intergenic	rs7077335-?	0.011	2E-12			[NR]	Affymetrix, Illumina [152234]	N
633	chr10	6390449	6390450	rs947474	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p15.1	PRKCQ	rs947474-A	0.83	4E-10		1.11	[1.07-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
633	chr10	6390449	6390450	rs947474	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p15.1	PRKCQ	rs947474-A	0.81	3E-10	(EA)	1.12	[1.08-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
633	chr10	6390449	6390450	rs947474	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	10p15.1	PRKCQ	rs947474-G	0.19	4E-9		1.1	[1.03-1.18]	Affymetrix [up to 335565]	N
633	chr10	6393259	6393260	rs4750316	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	10p15.1	PRKCQ	rs4750316-G	0.81	2E-6		1.15	[1.09-1.22]	Affymetrix, Illumina [~ 2716259] (imputed)	N
633	chr10	6393259	6393260	rs4750316	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	10p15.1	PRKCQ	rs4750316-G	0.20	4E-6		1.14	[NR]	Affymetrix, Illumina [at least 315971] (imputed)	N
633	chr10	6401624	6401625	rs4558075	24999842	Garner C	2014-07-07	PLoS One	Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.	Celiac disease	1,550 European ancestry cases, 3,084 European ancestry controls	NA	10p15.1	PFKFB3, PRKCQ	rs4558075-?	NR	2E-7		1.37	[1.22-1.54]	Illumina [517345]	N
633	chr10	6407736	6407737	rs11258317	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	10p15.1	NR	rs11258317-?	NR	6E-6		1.2306	[NR]	Affymetrix [722112]	N
634	chr10	6472890	6472891	rs11258747	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	10p15.1	PRKCQ	rs11258747-?	NR	1E-7				Affymetrix, Illumina [841622] (imputed)	N
635	chr10	6572224	6572225	rs11259403	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in asthmatics	1,881 European ancestry children, 810 children, 2,643 European ancestry adult individuals, 817 adult individuals	979 European ancestry children, 921 Hispanic children, 120 children	10p15.1	PRKCQ	rs11259403-C	0.33	7E-6	(adult)			Illumina [up to 536451]	N
635	chr10	6606540	6606541	rs4748153	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	10p15.1	PRKCQ	rs4748153-?		3E-8	(Hispanic)			Illumina [NR]	N
636	chr10	6789462	6789463	rs12570744	23555300	Cui J	2013-03-28	PLoS Genet	Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis.	Response to anti-TNF treatment in rheumatoid arthritis	Up to 2,706 European ancestry cases	NA	10p14	NR	rs12570744-T	0.17	2E-7	(infliximab, delta-DAS analysis)	0.49	[NR] unit decrease	Affymetrix, Illumina [~ 2000000] (imputed)	N
636	chr10	6791033	6791034	rs7094310	25271088	Singh A	2014-10-01	Eur J Hum Genet	Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.	Hip circumference (psychosocial stress interaction)	2,460 European ancestry individuals, 548 Chinese ancestry individuals,   1,547 African American individuals, 1,250 Hispanic individuals	3,157 European ancestry individuals	10p14	intergenic	rs7094310-?	NR	2E-6	(Hispanics)			Affymetrix [528298]	N
637	chr10	6924443	6924444	rs11816922	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10p14	intergenic	rs11816922-A	0.08	5E-6		1.1	[1.05-1.14]	Affymetrix, Illumina [~ 2300000] (imputed)	N
637	chr10	6946262	6946263	rs6602217	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	10p14	intergenic	rs6602217-T		2E-6	(Modelling analysis)	1.12	[1.07-1.17]	NR [1252901] (imputed)	N
637	chr10	6946751	6946752	rs2501677	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	10p14	SFMBT2	rs2501677-?		3E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
638	chr10	7070569	7070570	rs9943451	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10p14	NR	rs9943451-?	NR	3E-6	(Latino)	1.1339	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
639	chr10	7089015	7089016	rs10905099	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	10p14	NR	rs10905099-?	NR	8E-6	(CP)	3.45	[1.92-6.25]	Illumina [NR]	N
640	chr10	7216978	7216979	rs2497442	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10p14	NR	rs2497442-?	NR	2E-6	(EA)	0.9057	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
644	chr10	7736903	7736904	rs11255291	22116950	Schuh-Huerta SM	2011-11-24	Hum Reprod	Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.	Ovarian reserve	232 European ancestry female individuals, 200 African American female individuals	NA	10p14	ITIH2	rs11255291-?		2E-6	(FSH levels - AA)			Affymetrix [677261]	N
645	chr10	7887620	7887621	rs11255400	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p14	NR	rs11255400-G	0.931314253351327	7E-6	(IGP2)	0.2863	[0.16-0.41] unit increase	Illumina [~ 2500000] (imputed)	N
646	chr10	8089135	8089136	rs4143094	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	10p14	GATA3, GATA-AS1	rs4143094-T	0.21-0.27	9E-9	(Processed meat)	1.17	[1.11-1.23]	Affymetrix, Illumina [> 2700000] (imputed)	N
646	chr10	8093033	8093034	rs501764	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	10p14	NR	rs501764-C	0.19	4E-10		1.39	[NR]	Illumina [296129]	N
646	chr10	8093033	8093034	rs501764	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	10p14	GATA3	rs501764-C	0.19	7E-8		1.25	[1.15-1.36]	Illumina [504374]	N
646	chr10	8104207	8104208	rs3824662	25468567	Perez-Andreu V	2014-12-02	Blood	A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults.	Acute lymphoblastic leukemia (adolescents and young adults)	99 European ancestry cases, 1,381 European ancestry controls, 15 African American cases, 1,363 African American controls, 76 Hispanic cases, 1,008 Hispanic controls, 118 other ancestry cases, 2,909 other ancestry controls	72 European ancestry cases, 3,667 European ancestry controls, 9 African American cases, 1,076 African American controls, 34 Hispanic cases, 501 Hispanic controls, 47 other ancestry cases, 511 other ancestry controls	10p14	GATA3	rs3824662-A	0.20	3E-10		1.77	[1.48-2.12]	Affymetrix [635297]	N
646	chr10	8104207	8104208	rs3824662	23996088	Migliorini G	2013-08-30	Blood	Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.	Acute lymphoblastic leukemia (B-cell precursor)	1,658 European ancestry child cases, 4,723 European ancestry controls	1,449 European ancestry child cases, 1,488 European ancestry controls	10p14	GATA3	rs3824662-T	0.17	9E-12		1.31	[1.21-1.41]	Illumina [382776] (imputed)	N
646	chr10	8104721	8104722	rs3824660	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p14	GATA3	rs3824660-C	0.39	3E-9	(EA)	1.1	[1.06-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
646	chr10	8104721	8104722	rs3824660	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p14	GATA3	rs3824660-C	0.38	2E-8		1.08	[1.05-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
646	chr10	8110023	8110024	rs444929	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	10p14	GATA3	rs444929-C	0.21	3E-6		1.26	[1.15-1.39]	Affymetrix, Illumina [1004829] (imputed)	N
647	chr10	8150712	8150713	rs10508343	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	10p14	intergenic	rs10508343-A	NR	8E-6		3.81	[1.40-10.40]	Affymetrix [476796]	N
648	chr10	8324888	8324889	rs11255615	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)	119 Japanese ancestry cases, 105 Japanese ancestry controls	NA	10p14	LOC100507143	rs11255615-G	0.38	5E-6	(Allelic)	2.4	[1.65-3.53]	Illumina [555600]	N
650	chr10	8633860	8633861	rs4749791	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p14	LOC338591	rs4749791-A	0.469	8E-6	(Total antioxidants )	0.03	[NR] mM increase	Illumina [899892]	N
651	chr10	8701218	8701219	rs10795668	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	10p14	intergenic	rs10795668-G	0.6	5E-15	(East Asian)	1.15	[1.11-1.19]	Affymetrix, Illumina [2400000] (imputed)	N
651	chr10	8701218	8701219	rs10795668	18372905	Tomlinson IP	2008-03-30	Nat Genet	A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.	Colorectal cancer	922 European ancestry cases, 927 European ancestry controls	17,089 European ancestry cases, 16,862 European ancestry controls, 783 cases, 664 controls	10p14	intergenic	rs10795668-A	0.67	3E-13		1.12	[1.10-1.16]	Illumina [547647]	N
651	chr10	8719268	8719269	rs827382	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10p14	intergenic	rs827382-C	0.25	9E-8		1.07	[1.04-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
651	chr10	8739579	8739580	rs11255841	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	10p14	GATA3	rs11255841-T	0.68	4E-13		1.18	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
651	chr10	8739579	8739580	rs11255841	24737748	Whiffin N	2014-04-15	Hum Mol Genet	Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.	Colorectal cancer	5,626 European ancestry cases, 7,817 European ancestry controls	14,037 European ancestry cases, 15,937 European ancestry controls	10p14	GATA3	rs11255841-T	0.68	7E-11		1.19	[NR]	Illumina [NR] (imputed)	N
653	chr10	8935997	8935998	rs73635312	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	10p14	GATA3, RP11-428L9.1, RP11-428L9.2	rs73635312-G	0.874	2E-16		1.35	[1.25-1.45]	Illumina [24988228] (imputed)	N
653	chr10	8954223	8954224	rs2388896	23297363	Cordell HJ	2013-01-07	Hum Mol Genet	Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.	Tetralogy of Fallot	835 European ancestry cases, 5,159 European ancestry controls	798 European ancestry cases, 2,931 European ancestry controls	10p14	intergenic	rs2388896-G	0.599	9E-8		1.28	[1.15-1.43]	Illumina [516131]	N
653	chr10	8972017	8972018	rs10508372	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	10p14	LOC338591	rs10508372-C	0.433	2E-15		1.16	[1.12-1.21]	Illumina [458847]	N
653	chr10	9023814	9023815	rs35766269	25935106	Kim KW	2015-04-30	J Allergy Clin Immunol	Genome-wide association study of recalcitrant atopic dermatitis in Korean children.	Recalcitrant atopic dermatitis	246 Korean ancestry child cases, 551 Korean ancestry adult controls	NA	10p14	GATA3	rs35766269-A	0.580	1E-7		1.946	[1.529-2.494]	Affymetrix [2501352] (imputed)	N
654	chr10	9049252	9049253	rs12413578	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p14	intergenic	rs12413578-C	0.9	8E-8	(EA)	1.2	[1.12-1.29]	Affymetrix, Illumina [up to 9739303] (imputed)	N
654	chr10	9049252	9049253	rs12413578	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p14	intergenic	rs12413578-C	0.9	5E-8		1.2	[1.13-1.29]	Affymetrix, Illumina [up to 9739303] (imputed)	N
654	chr10	9053131	9053132	rs962993	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	10p14	GATA3	rs962993-T	0.4292	2E-8		0.0707	[0.046-0.095] unit decrease	Illumina [2400000] (imputed)	N
655	chr10	9193900	9193901	rs1149933	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	10p14	intergenic	rs1149933-?	NR	3E-6	(AUC)			NR [2092490]	N
655	chr10	9277524	9277525	rs768606	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	10p14	LOC100507163	rs768606-A	0.07	1E-7		0.48	[0.3-0.66] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
655	chr10	9277524	9277525	rs768606	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	10p14	GATA3	rs768606-A	0.07	1E-7	(cohort study)	1.62	[1.35-1.94]	Affymetrix, Illumina [up to 2600000] (imputed)	N
656	chr10	9328650	9328651	rs10491003	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	10p14	GATA3	rs10491003-T	0.09	5E-9		0.027	[0.017-0.037] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
656	chr10	9363876	9363877	rs12247397	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	10p14	LOC389936	rs12247397-G		3E-9	(AA)			Illumina [NR]	N
658	chr10	9568909	9568910	rs17515642	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p14	NR	rs17515642-C	0.855118419830281	2E-6	(IGP21)	0.2258	[0.13-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
658	chr10	9644799	9644800	rs4749884	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	10p14	intergenic	rs4749884-C	0.533	7E-6		1.12	[NR]	Illumina [4550396] (imputed)	N
661	chr10	9996989	9996990	rs12263766	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p14	TCEB1P3	rs12263766-G	0.0040	3E-6	(Urinary free epinephrine )	0.02	[NR] nmol/d increase	Illumina [899892]	N
661	chr10	10073543	10073544	rs10905651	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	10p14	LOC644495	rs10905651-?	NR	8E-6	(Comparatively Older)			Affymetrix, Illumina [~ 1400000] (imputed)	N
661	chr10	10084565	10084566	rs17147135	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p14	TCEB1P3	rs17147135-G	0.067	8E-6	(Vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
663	chr10	10296118	10296119	rs7097577	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p14	TCEB1P3	rs7097577-C	0.0060	6E-6	(Urinary free dopamine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
664	chr10	10388194	10388195	rs7092703	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		10p14	NR	rs7092703-C		3E-6		0.054	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
665	chr10	10601859	10601860	rs11256676	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	10p14	SFTA1P	rs11256676-?	NR	5E-6	(DMFS5mand)			Illumina [518997]	N
666	chr10	10689601	10689602	rs7092313	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Age of smoking initiation	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	10p14	NR	rs7092313-?		2E-6				Illumina [1211988] (imputed)	N
668	chr10	10917120	10917121	rs10752212	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	10p14	CELF2	rs10752212-G	0.532	1E-10		0.034	[0.024-0.044] unit increase	Illumina [7428049] (imputed)	N
668	chr10	10974255	10974256	rs10905868	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p14	CUGBP2, CELF2	rs10905868-G	0.151	4E-6	(TSH )	0.02	[NR] uIU/mL increase	Illumina [899892]	N
668	chr10	11000338	11000339	rs62209	21379329	Wijsman EM	2011-02-17	PLoS Genet	Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.	Alzheimer's disease (late onset)	1,848 European ancestry affected individuals, 1,991 European ancestry unaffected individuals	231 Caribbean Hispanic cases, 187 Caribbean Hispanic controls, 386 European ancestry cases, 386 European ancestry controls	10p14	CUGBP2	rs62209-C	NR	2E-7	(APOE E4 homozygotes)	2.04	[1.56-2.67]	Illumina [565336]	N
670	chr10	11224664	11224665	rs596406	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (aspartate transaminase)	484 Korean ancestry children	NA	10p14	CELF2	rs596406-G	0.044	4E-7		0.067	[0.042-0.092] unit increase	Illumina [747076]	N
670	chr10	11224664	11224665	rs596406	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	10p14	CELF2	rs596406-G	0.044	9E-6		0.11	[0.063-0.157] unit increase	Illumina [747076]	N
671	chr10	11299734	11299735	rs2277212	25475840	Colodro-Conde L	2014-12-05	Twin Res Hum Genet	A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan.	Breastfeeding duration	1,521 mothers from 1,073 families	NA	10p14	CELF2, CELF-AS2	rs2277212-?	NR	9E-6		0.298	[0.17-0.43] unit decrease	Illumina [6590000] (imputed)	N
674	chr10	11719009	11719010	rs12265836	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p14	USP6NL	rs12265836-C	0.106	8E-6	(AST/ALT)	0.03	[NR] unit increase	Illumina [899892]	N
674	chr10	11720307	11720308	rs7920721	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	10p14	USP6NL, ECHDC3	rs7920721-G	0.38	3E-6		1.12	[1.07-1.17]	NR [NR]	N
674	chr10	11720307	11720308	rs7920721	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	10p14	ECHDC3	rs7920721-G	0.387	3E-7		1.07	[1.04-1.10]	Illumina [7055881] (imputed)	N
675	chr10	11848791	11848792	rs12358475	25526632	Rafiq S	2014-12-19	PLoS One	A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis.	Breast cancer (survival)	1,341 European ancestry cases	1,523 European ancestry cases	10p14	C10orf47, ECHDC3	rs12358475-?	NR	2E-6		1.33	[1.19-1.49]	Illumina [6500000] (imputed)	N
676	chr10	12051815	12051816	rs10795917	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	10p14	UPF2	rs10795917-?	NR	7E-7	(rs8102476)	1.24	[1.14-1.36]	Affymetrix, Illumina [1117531] (imputed)	N
678	chr10	12277991	12277992	rs7068966	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	10p13	CDC123	rs7068966-?	NR	2E-11	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
678	chr10	12277991	12277992	rs7068966	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	10p13	CDC123	rs7068966-T	0.52	6E-13	(FEV1/FVC)	0.033	[0.023-0.043] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
678	chr10	12277991	12277992	rs7068966	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	10p13	CDC123	rs7068966-T	0.52	3E-12	(FEV1)	0.029	[0.021-0.037] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
678	chr10	12307893	12307894	rs11257655	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	10p13	CDC123	rs11257655-T	0.23	3E-9		1.06	[1.01-1.11]	Affymetrix, Illumina [2500000] (imputed)	N
678	chr10	12307893	12307894	rs11257655	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	10p13	CDC123	rs11257655-T	0.564	7E-9		1.15	[1.10-1.20]	Illumina [2234194] (imputed)	N
678	chr10	12314996	12314997	rs10906115	20862305	Shu XO	2010-09-16	PLoS Genet	Identification of new genetic risk variants for type 2 diabetes.	Type 2 diabetes	1,019 Chinese ancestry cases, 1,710 Chinese ancestry controls	2,591 European ancestry cases, 3,052 European ancestry controls, 6,184 East Asian cases, 9,853 East Asian controls	10p13	CDC123, CAMK1D	rs10906115-A	0.57	1E-8		1.13	[1.08-1.18]	Affymetrix [590887]	N
679	chr10	12328009	12328010	rs12779790	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	10p13	CDC123, CAMK1D	rs12779790-G	0.18	1E-10		1.11	[1.07-1.14]	Affymetrix, Illumina [2202892] (imputed)	N
679	chr10	12431366	12431367	rs4451621	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	10p13	intergenic	rs4451621-T	0.536	1E-6		0.023	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
679	chr10	12435378	12435379	rs4750211	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	CAMK1D	rs4750211-A	0.3	6E-7	(RQmax)	0.05	[NR] increase	Illumina [899892]	N
679	chr10	12438782	12438783	rs10906142	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	CAMK1D	rs10906142-A	0.236	4E-6	(Energy storage )	0.03	[NR] kcal/d increase	Illumina [899892]	N
679	chr10	12438782	12438783	rs10906142	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	CAMK1D	rs10906142-A	0.236	1E-6	(Fat mass deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
679	chr10	12438782	12438783	rs10906142	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	CAMK1D	rs10906142-A	0.236	1E-6	(Fat mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
680	chr10	12482906	12482907	rs147729365	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10p13	NR	rs147729365-?	NR	4E-7	(Japanese)	0.7133	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
681	chr10	12601438	12601439	rs2648708	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Calcium levels	5,261 European ancestry children, 3,817 African-American ancestry children		10p13	NR	rs2648708-T	NR	8E-6	(EA)	0.0696	[-0.10002--0.03918] mg/dl decrease	Illumina [up to 507950]	N
681	chr10	12675060	12675061	rs10906189	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	10p13	CAMK1D	rs10906189-A	0.58	6E-6	(Thiazides)			Affymetrix, Illumina [~ 2500000] (imputed)	N
681	chr10	12702568	12702569	rs75263140	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	10p13	CAMK1D	rs75263140-A	0.974	6E-6		0.172	[0.098-0.246] unit decrease	Illumina [6150213] (imputed)	N
682	chr10	12749061	12749062	rs45479699	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	10p13	NR	rs45479699-A	NR	8E-6	(phenotype 2)	5.62	[NR]	Illumina [> 8000000] (imputed)	N
683	chr10	12872879	12872880	rs2431623	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	10p13	intergenic	rs2431623-G	0.369	9E-6		0.091	[0.05-0.132] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
683	chr10	12875207	12875208	rs10906233	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders	543 European ancestry female cases, 1,116 European ancestry female controls	NA	10p13	CAMK1D	rs10906233-C	0.979	4E-6		0.288	[0.17-0.41] unit decrease	Illumina [6150213] (imputed)	N
683	chr10	12918763	12918764	rs7909670	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	10p13	CCDC3	rs7909670-T	0.44	3E-9		0.021	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
684	chr10	13103284	13103285	rs525455	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	10p13	MST151	rs525455-G	0.459	7E-7	(ADP)			Affymetrix, Illumina [~ 2330000] (imputed)	N
685	chr10	13155725	13155726	rs1561570	21623375	Albagha OM	2011-05-29	Nat Genet	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.	Paget's disease	741 European ancestry cases, 2,699 European ancestry controls	1,474 European ancestry cases, 1,671 European ancestry controls	10p13	OPTN	rs1561570-T	0.53	4E-38		1.67	[1.54-1.80]	Illumina [2487078] (imputed)	N
685	chr10	13155725	13155726	rs1561570	20436471	Albagha OM	2010-05-02	Nat Genet	Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.	Paget's disease	692 European ancestry cases, 1,001 European ancestry controls	256 European ancestry cases, 488 European ancestry controls	10p13	OPTN	rs1561570-?	0.55	6E-13		1.54	[1.37-1.72]	Illumina [294663]	N
686	chr10	13310070	13310071	rs10796051	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	10p13	intergenic	rs10796051-C	0.4488	7E-6		0.0532	[0.030-0.076] unit increase	Illumina [2400000] (imputed)	N
686	chr10	13355130	13355131	rs1095368	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p13	NR	rs1095368-C	0.437467493541203	7E-7	(IGP49)	0.1528	[0.092-0.213] unit increase	Illumina [~ 2500000] (imputed)	N
686	chr10	13361975	13361976	rs1747683	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p13	NR	rs1747683-G	0.414548764129951	6E-7	(IGP70)	0.1581	[0.096-0.22] unit increase	Illumina [~ 2500000] (imputed)	N
686	chr10	13361975	13361976	rs1747683	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p13	NR	rs1747683-G	0.414548764129951	4E-7	(IGP71)	0.1618	[0.099-0.224] unit increase	Illumina [~ 2500000] (imputed)	N
686	chr10	13361975	13361976	rs1747683	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p13	NR	rs1747683-G	0.414548764129951	3E-7	(IGP64)	0.1637	[0.1-0.23] unit decrease	Illumina [~ 2500000] (imputed)	N
686	chr10	13361975	13361976	rs1747683	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p13	NR	rs1747683-G	0.414548764129951	2E-7	(IGP66)	0.1661	[0.1-0.23] unit increase	Illumina [~ 2500000] (imputed)	N
686	chr10	13361975	13361976	rs1747683	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p13	NR	rs1747683-G	0.414510834817453	4E-7	(IGP72)	0.1616	[0.099-0.224] unit decrease	Illumina [~ 2500000] (imputed)	N
686	chr10	13361975	13361976	rs1747683	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p13	NR	rs1747683-G	0.414510834817453	1E-7	(IGP68)	0.1694	[0.11-0.23] unit increase	Illumina [~ 2500000] (imputed)	N
686	chr10	13363045	13363046	rs10508459	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p13	NR	rs10508459-T	0.47438586013363	2E-6	(IGP9)	0.1446	[0.085-0.204] unit decrease	Illumina [~ 2500000] (imputed)	N
688	chr10	13530216	13530217	rs17153352	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p13	NR	rs17153352-T	0.822655938139742	7E-6	(IGP40)	0.2041	[0.12-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
689	chr10	13650031	13650032	rs2478118	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	10p13	PRPF18	rs2478118-T	NR	5E-6	(Dominant)	1.61	[1.30-1.99]	Affymetrix, Illumina [1621689] (imputed)	N
689	chr10	13667730	13667731	rs7089227	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU)	116 Japanese ancestry cases, 108 Japanese ancestry controls	NA	10p13	PRPF18	rs7089227-G	0.41	7E-6	(Dominant)	1.99	[1.37-2.90]	Illumina [555600]	N
689	chr10	13688797	13688798	rs56161216	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10p13	NR	rs56161216-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
689	chr10	13755543	13755544	rs1541010	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	10p13	FRMD4A	rs1541010-A	0.28	1E-6		0.15	[0.09-0.21] unit increase	Illumina [~ 318327]	N
690	chr10	13790264	13790265	rs10906466	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10p13	intergenic	rs10906466-A	0.29	8E-6		1.06	[1.03-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
691	chr10	13991864	13991865	rs7081208	22430674	Lambert JC	2012-03-20	Mol Psychiatry	Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.	Alzheimer's disease	2,025 European ancestry cases, 5,328 European ancestry controls	7,913 European ancestry cases, 10,417 European ancestry controls	10p13	FRMD4A	rs7081208-A,rs2446581-A,rs17314229-C	0.028	1E-10		1.68	[1.43-1.96]	Illumina [287956]	N
691	chr10	14008444	14008445	rs2446581	22430674	Lambert JC	2012-03-20	Mol Psychiatry	Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.	Alzheimer's disease	2,025 European ancestry cases, 5,328 European ancestry controls	7,913 European ancestry cases, 10,417 European ancestry controls	10p13	FRMD4A	rs7081208-A,rs2446581-A,rs17314229-C	0.028	1E-10		1.68	[1.43-1.96]	Illumina [287956]	N
691	chr10	14013953	14013954	rs4750440	26299439	Li WD	2015-08-24	Sci Rep	Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.	Adiponectin levels	737 European ancestry females	NA	10p13	FRMD4A	rs4750440-?		6E-6				Illumina [up to 550000]	N
691	chr10	14016158	14016159	rs17314229	22430674	Lambert JC	2012-03-20	Mol Psychiatry	Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.	Alzheimer's disease	2,025 European ancestry cases, 5,328 European ancestry controls	7,913 European ancestry cases, 10,417 European ancestry controls	10p13	FRMD4A	rs7081208-A,rs2446581-A,rs17314229-C	0.028	1E-10		1.68	[1.43-1.96]	Illumina [287956]	N
696	chr10	14633023	14633024	rs4750535	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	10p13	FAM107B	rs4750535-C	NR	3E-10		0.0999	[NR] unit increase	Illumina [11892802] (imputed)	N
699	chr10	14945405	14945406	rs11594111	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10p13	intergenic	rs11594111-G	0.14	1E-7		1.09	[1.06-1.12]	Affymetrix, Illumina [~ 2300000] (imputed)	N
700	chr10	15128968	15128969	rs10906824	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	10p13	ACBD7	rs10906824-A	0.033	4E-6		0.9719	[0.56-1.38] unit increase	Affymetrix, Illumina [NR] (imputed)	N
700	chr10	15129401	15129402	rs11259474	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	ACBD7	rs11259474-G	0.109	5E-6	(Free T3 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
701	chr10	15213099	15213100	rs17156371	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	10p13	RPP38, NMT2, PPIAP30, FAM171A1	rs17156371-A	0.1115	5E-6		2.1463	[1.82-2.47]	Illumina [8809853] (imputed)	N
703	chr10	15561542	15561543	rs7077361	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	10p13	ITGA8	rs7077361-T	0.89	5E-6		1.19	[NR]	Illumina [463185]	N
704	chr10	15600670	15600671	rs28643277	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	10p13	ITGA8	rs28643277-A	0.35	9E-6	(Age 20-60 years)	1.32	[1.17-1.50]	Affymetrix, Illumina [up to 17585496] (imputed)	N
704	chr10	15654886	15654887	rs4748185	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10p13	ITGA8, FAM171A1, C10orf97	rs4748185-A	0.001	1E-6		33.99	[3.51-328.89]	Illumina [1556551]	N
704	chr10	15719620	15719621	rs7895372	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	10p13	ITGA8	rs7895372-G	0.04	6E-6	(TC)	0.35	[NR] mg/dL decrease	Affymetrix [408775]	N
707	chr10	16116746	16116747	rs2069036	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	10p13	FAM188A, PTER	rs2069036-C	0.75	3E-6	(Men)	0.015772996	[0.0091-0.0224] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
707	chr10	16116746	16116747	rs2069036	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	10p13	C10orf97	rs2069036-T	0.245	8E-6				Affymetrix, Illumina [~ 2500000] (imputed)	N
709	chr10	16299950	16299951	rs10508503	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	10p13	PTER	rs10508503-C	0.92	2E-7				Illumina [308846]	N
711	chr10	16634298	16634299	rs7068341	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10p13	intergenic	rs7068341-T	0.12	2E-6		1.09	[1.05-1.12]	Affymetrix, Illumina [~ 2300000] (imputed)	N
712	chr10	16744522	16744523	rs11254160	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	RSU1	rs11254160-A	0.138	8E-6	(Testosterone )	0.03	[NR] ng/mL increase	Illumina [899892]	N
712	chr10	16744522	16744523	rs11254160	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	RSU1	rs11254160-A	0.138	6E-6	(VO2max )	0.04	[NR] mL/min increase	Illumina [899892]	N
712	chr10	16748609	16748610	rs7916663	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	RSU1	rs7916663-A	0.184	5E-6	(Height z-score )	0.03	[NR] SD increase	Illumina [899892]	N
712	chr10	16748609	16748610	rs7916663	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	RSU1	rs7916663-A	0.184	4E-7	(Height )	0.04	[NR] cm increase	Illumina [899892]	N
712	chr10	16748609	16748610	rs7916663	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p13	RSU1	rs7916663-A	0.184	2E-6	(Bone mineral content )	0.04	[NR] kg increase	Illumina [899892]	N
714	chr10	16919051	16919052	rs1801239	21355061	Boger CA	2011-02-25	J Am Soc Nephrol	CUBN is a gene locus for albuminuria.	Urinary albumin excretion	31,580 European ancestry individuals	31,277 European ancestry individuals	10p13	RSU1, CUBN	rs1801239-T	0.90	1E-11	(UACR)	0.0835	[NR] unit decrease CKDGen	Affymetrix, Illumina [~ 2500000] (imputed)	N
714	chr10	16997265	16997266	rs10904849	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	10p13	CUBN	rs10904849-?	0.68	7E-8		1.13	[1.08-1.19]	Affymetrix, Illumina [~ 10000000] (imputed)	N
714	chr10	16997890	16997891	rs10508517	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	10p13	CUBN	rs10508517-A	0.43	6E-6	(DBP)	0.18	[NR] mm Hg decrease	Affymetrix [408775]	N
715	chr10	17130692	17130693	rs11254363	19303062	Tanaka T	2009-03-18	Am J Hum Genet	Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.	Folate pathway vitamin levels	2,934 European ancestry individuals	686 European ancestry individuals	10p13	CUBN	rs11254363-A	0.70	1E-6	(vitamin B12)	21.49	[7.71-35.27] pg/mL decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
715	chr10	17142525	17142526	rs6602175	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Whole-brain volume	434 European ancestry mild cognitive impairment cases, 245 European ancestry Alzheimer's disease cases, 284 European ancestry controls	NA	10p13	CUBN	rs6602175-?	NR	3E-6		0.007	[NR] unit decrease	Illumina [478011]	N
715	chr10	17156150	17156151	rs1801222	25147783	Keene KL	2014-08-06	Front Public Health	Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.	Vitamin B levels in ischemic stroke	1,725 European ancestry cases, 258 African ancestry cases, 117 cases	NA	10p13	CUBN	rs1801222-A	0.316	2E-13	(Vitamin B12)	0.218	[NR] unit decrease	Illumina [737081]	N
715	chr10	17156150	17156151	rs1801222	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	10p13	CUBN	rs1801222-A	0.34	8E-10		0.0453	[0.032-0.059] unit increase	Affymetrix, Illumina [2090256] (imputed)	N
715	chr10	17156150	17156151	rs1801222	19744961	Hazra A	2009-09-10	Hum Mol Genet	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	Folate pathway vitamin levels	3,305 European ancestry females, 1,458 European ancestry males	NA	10p13	CUBN	rs1801222-?	0.28	3E-9	(Plasma Vitamin B12)	0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
716	chr10	17188640	17188641	rs10904887	24478790	Lee JH	2014-01-17	Front Genet	Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.	Telomere length	4,829 European ancestry individuals from 586 families with exceptional longevity	NA	10p13	TRDMT1	rs10904887-T	0.474	4E-6			[NR]	Illumina [9250000] (imputed)	N
716	chr10	17223243	17223244	rs12780845	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	10p13	CUBN	rs12780845-A	0.65	8E-10		0.0529	[0.035-0.071] unit increase	Affymetrix, Illumina [2090256] (imputed)	N
716	chr10	17260289	17260290	rs10904908	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	10p13	VIM, CUBN	rs10904908-G	0.43	3E-11		0.025	[NR] unit increase	NR [NR] (imputed)	N
717	chr10	17388142	17388143	rs359312	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	10p12.33	ST8SIA6	rs359312-T	NR	9E-8		3.91	[1.52-10.10]	Affymetrix [476796]	N
719	chr10	17596120	17596121	rs6602203	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	10p12.33	intergenic	rs6602203-?		5E-6	(MCRI)	0.32	[0.18-0.46] unit decrease	Illumina [693128]	N
721	chr10	17875815	17875816	rs2477664	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	10p12.33	FAM23A, MRC1L1, FAM23B, MRC1	rs2477664-T	0.44	1E-16	(AST)	0.099	[0.075-0.123] unit decrease	Illumina [561583]	N
721	chr10	17891821	17891822	rs2437258	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA		MRC1	rs2437258-T	0.23	3E-10	(AST)	0.102	[0.071-0.133] units/l increase	Illumina [NR] (imputed)	N
721	chr10	17893208	17893209	rs691461	25057126	Ramos YF	2014-07-23	J Med Genet	Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.	Osteoarthritis biomarkers	up to 4,654 European ancestry individuals	964 European ancestry individuals		MRC1	rs691461-G	0.502	2E-12	(sCOMP)	0.16	[NR] unit decrease	Illumina [up to 1961964] (imputed)	N
722	chr10	17966560	17966561	rs10508552	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA		MRC1	rs10508552-C	0.65	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
725	chr10	18388433	18388434	rs10508558	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	10p12.33	NR	rs10508558-?	NR	9E-6		1.5425	[NR]	Affymetrix [722112]	N
725	chr10	18397246	18397247	rs17661538	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	10p12.33	intergenic	rs17661538-?	0.138	1E-6	(clozapine-triglycerides)			Affymetrix [492900]	N
725	chr10	18419971	18419972	rs4373814	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	10p12.33	CACNB2	rs4373814-G	0.55	5E-11		0.373	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
725	chr10	18419971	18419972	rs4373814	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	10p12.33	CACNB2	rs4373814-G	0.55	9E-8		0.046	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
725	chr10	18419971	18419972	rs4373814	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	10p12.33	CACNB2	rs4373814-G	0.55	4E-10		0.218	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
725	chr10	18442481	18442482	rs10740993	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		10p12.33	CACNB2	rs10740993-C	NR	2E-7		0.141	[0.088-0.194] unit decrease	Illumina [2446724] (imputed)	N
725	chr10	18442481	18442482	rs10740993	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		10p12.33	CACNB2	rs10740993-C	NR	2E-9		0.141	[0.096-0.186] unit increase	Illumina [2446724] (imputed)	N
726	chr10	18525169	18525170	rs2482109	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	10p12.33	CACNB2	rs2482109-G		3E-6		0.2978	unit increase	Illumina [5767231] (imputed)	N
726	chr10	18549015	18549016	rs7099380	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10p12.33	NR	rs7099380-A	NR	1E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
726	chr10	18601927	18601928	rs2799573	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	10p12.32	CACNB2	rs2799573-?	0.715	4E-8	(Modelling analysis)	1.08	[1.05-1.12]	NR [1252901] (imputed)	N
727	chr10	18708797	18708798	rs11014166	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Systolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	10p12.31	CACNB2	rs11014166-A	0.66	7E-7		0.5	[0.30-0.70] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
727	chr10	18708797	18708798	rs11014166	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Hypertension	29,136 European ancestry individuals	34,433 European ancestry individuals	10p12.31	CACNB2	rs11014166-A	0.66	6E-8		0.09	[0.05-0.13] log odds increase	Affymetrix, Illumina [2533153] (imputed)	N
727	chr10	18708797	18708798	rs11014166	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Diastolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	10p12.31	CACNB2	rs11014166-A	0.66	1E-8		0.37	[0.25-0.49] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
727	chr10	18727958	18727959	rs12258967	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	10p12.31	CACNB2	rs12258967-G	0.36	2E-16	(Mean Arterial Pressure)	0.431	[0.33-0.53] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
727	chr10	18730367	18730368	rs7069923	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	10p12.31	CACNB2	rs7069923-C	0.49	1E-6	(SBP)	0.19	[NR] mm Hg increase	Affymetrix [408775]	N
727	chr10	18734527	18734528	rs17691888	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	10p12.31	NSUN6, CACNB2	rs17691888-G	0.886	1E-10		1.16	[1.11-1.21]	Affymetrix, Illumina [9871789]	N
728	chr10	18745104	18745105	rs7893279	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10p12.31	NR	rs7893279-T	NR	6E-11		1.12	[NR]	Illumina [7158791] (imputed)	N
728	chr10	18745104	18745105	rs7893279	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	10p12.31	CACNB2	rs7893279-T	0.889	2E-12		1.125	[1.088-1.162]	Affymetrix, Illumina [9005918] (imputed)	N
728	chr10	18759628	18759629	rs7076247	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	10p12.31	CACNB2	rs7076247-?	0.37	6E-6	(CRP)			Illumina [496032]	N
728	chr10	18782879	18782880	rs8181477	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.31	CACNB2	rs8181477-C	0.419	1E-6	(BMR RQ)	0.04	[NR] unit increase	Illumina [899892]	N
729	chr10	18950554	18950555	rs10829156	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	10p12.31	intergenic	rs10829156-?	0.20	4E-7	(Recessive)	1.28	[1.16-1.41]	Affymetrix [319222]	N
729	chr10	18994582	18994583	rs11015781	26385043	Kertai MD	2015-06-17	Am Heart J	Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery.	Postoperative atrial fibrillation in coronary artery bypass grafting surgery	620 European ancestry cases, 257 European ancestry controls	220 cases, 84 controls	10p12.31	LOC100130846, ARL5B	rs11015781-A	0.3	7E-6		1.2	[0.76-1.91]	Illumina [524975]	N
731	chr10	19160028	19160029	rs16917919	20197096	Stein JL	2010-03-01	Neuroimage	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.	Brain structure (hippocampal volume)	162 European ancestry Alzheimer's disease cases, 343 European ancestry amnestic mild cognitive impairment cases, 193 European ancestry healthy elderly controls	NA	10p12.31	intergenic	rs16917919-A	0.37	8E-6		147.6	[NR] unit increase	Illumina [546314]	N
733	chr10	19405530	19405531	rs16918253	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.31	LOC100652979	rs16918253-A	0.036	8E-6	(TG/HDLC )	0.03	[NR] mmol/L increase	Illumina [899892]	N
737	chr10	19929512	19929513	rs1326986	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	10p12.31	NR	rs1326986-C	0.05	4E-6		1.9	[1.58-2.29]	Illumina [288662]	N
739	chr10	20302571	20302572	rs12218391	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10p12.31	NR	rs12218391-?	NR	2E-6	(EA)	0.2158	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
740	chr10	20434779	20434780	rs4634985	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	10p12.31	PLXDC2	rs4634985-A	0.31	3E-6	(Hispanic)	1.54	[NR]	Illumina [1795103]	N
741	chr10	20542633	20542634	rs1571942	21310492	Huang YC	2011-02-08	Ophthalmology	Genome-wide association study of diabetic retinopathy in a Taiwanese population.	Diabetic retinopathy	174 Han Chinese ancestry Type 2 diabetes cases, 575 Han Chinese ancestry Type 2 diabetes controls, 100 Han Chinese ancestry non-diabetic controls	NA	10p12.31	PLXDC2	rs1571942-C	NR	3E-7				Illumina [~ 550000]	N
742	chr10	20593086	20593087	rs12219125	21310492	Huang YC	2011-02-08	Ophthalmology	Genome-wide association study of diabetic retinopathy in a Taiwanese population.	Diabetic retinopathy	174 Han Chinese ancestry Type 2 diabetes cases, 575 Han Chinese ancestry Type 2 diabetes controls, 100 Han Chinese ancestry non-diabetic controls	NA	10p12.31	intergenic	rs12219125-T	NR	9E-9				Illumina [~ 550000]	N
742	chr10	20674652	20674653	rs12772794	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	10p12.31	AL353790.1, RP11-337N19.1	rs12772794-?	NR	7E-6				Illumina [874956]	N
743	chr10	20792333	20792334	rs7897194	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	10p12.31	intergenic	rs7897194-?	NR	8E-6	(NSM vs. Control)	2.91	[NR]	Affymetrix [703012]	N
743	chr10	20810524	20810525	rs16920624	20360315	Uher R	2010-04-01	Am J Psychiatry	Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.	Response to antidepressants	706 European ancestry individuals	NA	10p12.31	intergenic	rs16920624-?	0.07	7E-7	(whole sample)	16.0	[NR] unit decrease	Illumina [539391]	N
744	chr10	20862400	20862401	rs11012167	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10p12.31	NR	rs11012167-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
744	chr10	20865156	20865157	rs11819199	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	10p12.31	MIR4675	rs11819199-G	0.06	3E-7		1.62	[NR]	Illumina [1468075]	N
744	chr10	20899607	20899608	rs2359536	26029870	Ye Z	2015-06-01	Nat Genet	Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma.	Sporadic pituitary adenoma	771 Han Chinese cases, 2,788 Han Chinese controls	2,542 Han Chinese cases, 3,620 Han Chinese controls	10p12.31	NEBL, MIR4675	rs2359536-G	0.082	2E-10		1.44	[1.29-1.62]	Illumina [720770]	N
744	chr10	20899607	20899608	rs2359536	20610895	Koriyama H	2010-07-02	J Atheroscler Thromb	Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population.	Peripheral artery disease	195 Japanese ancestry cases, 1,358 Japanese ancestry controls	699 Japanese ancestry cases, 1,540 Japanese ancestry controls	10p12.31	intergenic	rs2359536-C	0.032	2E-6		1.84	[1.43-2.37]	Perlegen [222285]	N
747	chr10	21259143	21259144	rs4748741	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	10p12.31	NEBL	rs4748741-T	0.04	4E-7	(women)	0.35	[0.21-0.49] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
748	chr10	21436221	21436222	rs12243039	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	10p12.31	C10orf113	rs12243039-?	0.01	8E-6	(Breast cancer, overall toxicity, multivariable analysis)	3.28		Illumina [2417493] (imputed)	N
748	chr10	21436221	21436222	rs12243039	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	10p12.31	C10orf113	rs12243039-?	0.01	6E-6	(All samples, overall toxicity, multivariable analysis)	3.39		Illumina [2417493] (imputed)	N
749	chr10	21567564	21567565	rs3847375	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	10p12.31	intergenic	rs3847375-?	NR	1E-6	(EA)	1.46	[NR]	Illumina [up to 531195]	N
750	chr10	21694218	21694219	rs143362648	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10p12.31	NR	rs143362648-?	NR	5E-7		0.5559	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
751	chr10	21830103	21830104	rs11012732	21804547	Dobbins SE	2011-07-31	Nat Genet	Common variation at 10p12.31 near MLLT10 influences meningioma risk.	Meningioma	859 European ancestry cases, 704 European ancestry controls	774 European ancestry cases, 1,764 European ancestry controls	10p12.31	MLLT10	rs11012732-A	0.32	2E-14		1.46	[1.32-1.61]	Illumina [270875]	N
752	chr10	21915618	21915619	rs1243180	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	10p12.31	MLLT10	rs1243180-A	0.31	1E-9		1.1	[1.06-1.14]	Illumina [up to 10962898] (imputed)	N
752	chr10	21915618	21915619	rs1243180	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	10p12.31	NEBL, C10orf113, C10orf114, SKIDA1, DNAJC1, MLLT10	rs1243180-T	0.31	2E-8	(All invasive)	1.1	[1.06-1.13]	Illumina [2508744] (imputed)	N
752	chr10	21915618	21915619	rs1243180	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	10p12.31	NEBL, C10orf113, C10orf114, SKIDA1, DNAJC1, MLLT10	rs1243180-T	0.31	1E-7	(Serious invasive)	1.11	[1.07-1.15]	Illumina [2508744] (imputed)	N
753	chr10	22032941	22032942	rs7072776	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	10p12.31	DNAJC1, MLLT10	rs7072776-A	0.29	4E-14		1.07	[1.05-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
755	chr10	22315842	22315843	rs11814448	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	10p12.31	DNAJC1	rs11814448-C	0.02	9E-16		1.26	[1.18-1.35]	Affymetrix, Illumina [~ 2600000] (imputed)	N
755	chr10	22377957	22377958	rs72810761	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10p12.31	NR	rs72810761-?	NR	7E-7		0.3118	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
759	chr10	22847438	22847439	rs7094131	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.2	PIP4K2A	rs7094131-G	0.392	9E-6	(Vigorous activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
762	chr10	23303252	23303253	rs1054052	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p12.2	NR	rs1054052-T	0.285370675591254	3E-6	(IGP37)	0.1625	[0.094-0.231] unit decrease	Illumina [~ 2500000] (imputed)	N
762	chr10	23303252	23303253	rs1054052	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p12.2	NR	rs1054052-T	0.285274903125	6E-7	(IGP36)	0.1727	[0.1-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
762	chr10	23303252	23303253	rs1054052	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p12.2	NR	rs1054052-T	0.285116272403032	2E-6	(IGP38)	0.1661	[0.098-0.234] unit decrease	Illumina [~ 2500000] (imputed)	N
762	chr10	23303252	23303253	rs1054052	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p12.2	NR	rs1054052-T	0.28422493357111	6E-6	(IGP33)	0.1566	[0.089-0.224] unit increase	Illumina [~ 2500000] (imputed)	N
763	chr10	23369420	23369421	rs722258	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep time	2,322 European ancestry individuals	NA	10p12.2	intergenic	rs722258-T	0.42	3E-6		8.03	[4.68-11.38] unit decrease	Illumina [2380486] (imputed)	N
763	chr10	23393065	23393066	rs1555804	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10p12.2	MSRB2, ARMC3, YWHAZP3	rs1555804-G	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
763	chr10	23434743	23434744	rs7893600	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.2	MSRB2	rs7893600-A	0.329	3E-6	(IL6 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
765	chr10	23665437	23665438	rs1398024	18723019	Franke A	2008-07-21	Gastroenterology	Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.	Crohn's disease and sarcoidosis (combined)	382 European ancestry Crohn's disease cases, 398 European ancestry Sarcoidosis cases, 394 European ancestry controls	660 European ancestry Crohn's disease cases, 657 European ancestry Sarcoidosis cases, 1,091 European ancestry controls	10p12.2	C10orf67	rs1398024-A	0.25	4E-6		1.23	[1.04-1.45]	Affymetrix [83360]	N
767	chr10	23858210	23858211	rs16923476	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	10p12.2	OTUD1, KIAA1217	rs16923476-A	0.02	1E-7		1.78	[1.44-2.20]	Affymetrix [~ 2000000] (imputed)	N
768	chr10	24071005	24071006	rs192858301	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10p12.2	NR	rs192858301-?	NR	5E-7	(EA)	1.1652	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
770	chr10	24357790	24357791	rs75984653	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10p12.2	NR	rs75984653-?	NR	7E-6	(AA)	1.2881	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
771	chr10	24495585	24495586	rs11013962	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	10p12.2	NR	rs11013962-?	NR	3E-7	(earlobes)			Illumina [535076]	N
772	chr10	24634955	24634956	rs2484873	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	10p12.1	KIAA1217	rs2484873-?	NR	4E-7	(Digit Span Backward)			Illumina [up to 563855]	N
776	chr10	25111909	25111910	rs11014249	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.1	PRTFDC1	rs11014249-C	0.284	3E-6	(Trunk fat mass )	0.04	[NR] kg increase	Illumina [899892]	N
777	chr10	25216805	25216806	rs1033962	25456346	Nievergelt CM	2014-10-30	Psychoneuroendocrinology	Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.	Post-traumatic stress disorder	940 European, Hispanic, Native American, African American, East Asian and other ancestry cases, 2,554 European, Hispanic, Native American, African American, East Asian and other ancestry trauma-exposed controls	313 European ancestry cases, 178 European ancestry trauma-exposed controls	10p12.1	PRTFDC1	rs1033962-A	0.22	2E-9		1.43	[1.31-1.55]	Illumina [21693469] (imputed)	N
777	chr10	25224461	25224462	rs11014306	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	10p12.1	PRTFDC1	rs11014306-C		4E-6		0.1	[0.06-0.14] unit decrease	Affymetrix [~ 2500000] (imputed)	N
777	chr10	25240083	25240084	rs10828735	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10p12.1	PRTFDC1, ARHGAP21, C10orf63	rs10828735-A	0.007	5E-6		6.76	[2.62-17.44]	Illumina [1556551]	N
778	chr10	25407208	25407209	rs150663673	25524241	Richter HE	2014-12-15	J Urol	Genetic Contributions to Urgency Urinary Incontinence in Women.	Urgency urinary incontinence	1,102 European ancestry cases, 405 European ancestry controls	1,133 European ancestry cases, 371 European ancestry controls	10p12.1	RP11-80K21.3	rs150663673-?	NR	8E-7		4.06	[1.88-8.73]	Illumina [9077347] (imputed)	N
780	chr10	25591152	25591153	rs59132240	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10p12.1	NR	rs59132240-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
781	chr10	25770024	25770025	rs72786268	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10p12.1	GPR158	rs72786268-?	NR	4E-7				Affymetrix [5486770] (imputed)	N
782	chr10	25880458	25880459	rs17558301	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p12.1	NR	rs17558301-C	0.961067	7E-6	(IGP36)	1.5855	[0.9-2.28] unit decrease	Illumina [~ 2500000] (imputed)	N
782	chr10	25918878	25918879	rs12775535	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	10p12.1	GPR158	rs12775535-?		4E-9	(AA)			Illumina [NR]	N
783	chr10	26002247	26002248	rs2504183	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p12.1	NR	rs2504183-G	0.71933817201426	7E-6	(IGP25)	0.1943	[0.11-0.28] unit increase	Illumina [~ 2500000] (imputed)	N
784	chr10	26162765	26162766	rs4749080	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.1	MYO3A	rs4749080-G	0.268	4E-7	(IL6 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
785	chr10	26294827	26294828	rs16926523	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	PR interval	455 African American individuals	NA	10p12.1	MYO3A	rs16926523-A		4E-6		9.55	[NR] ms increase	Illumina [> 930000]	N
786	chr10	26433365	26433366	rs2096176	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.1	MYO3A	rs2096176-A	0.33	5E-6	(Cortisol )	0.02	[NR] ng/mL increase	Illumina [899892]	N
787	chr10	26484153	26484154	rs12764197	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.1	MYO3A	rs12764197-G	0.304	6E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
788	chr10	26734586	26734587	rs2992257	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	10p12.1	APBB1IP	rs2992257-T	NR	3E-7	(AA)	8.63	[-2.13040-19.39040] unit increase	Affymetrix [~ 2300000] (imputed)	N
789	chr10	26774693	26774694	rs786870	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	10p12.1	APBB1IP	rs786870-?	NR	5E-7	(MCP1-TNF-a pattern prefenofibrate)			Affymetrix [2543887] (imputed)	N
796	chr10	27693304	27693305	rs1334893	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	10p12.1	PTCHD3	rs1334893-?		5E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
796	chr10	27708028	27708029	rs143543475	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	10p12.1	PTCHD3	rs143543475-?	0.01	4E-7		11.0	[NR]	Affymetrix [4893794] (imputed)	N
798	chr10	28017571	28017572	rs7358151	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10p12.1	MKX, RAB18, ARMC4	rs7358151-G	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
798	chr10	28025770	28025771	rs10508727	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	10p12.1	MKX	rs10508727-?		1E-10	(AA)			Illumina [NR]	N
799	chr10	28150934	28150935	rs11006747	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.1	ARMC4	rs11006747-A	0.383	8E-6	(Total cysteine )	0.02	[NR] umol/L increase	Illumina [899892]	N
801	chr10	28382932	28382933	rs927675	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Hippocampal volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	10p12.1	MPP7	rs927675-?	NR	2E-6		2.0E-4	[NR] unit increase	Illumina [478011]	N
801	chr10	28388149	28388150	rs10763642	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.1	MPP7	rs10763642-A	0.426	7E-6	(Total glutathione )	0.03	[NR] umol/L increase	Illumina [899892]	N
802	chr10	28479941	28479942	rs3905706	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	10p12.1	MPP7	rs3905706-T	0.22	3E-6		0.08	unit increase	Illumina [~ 2500000] (imputed)	N
802	chr10	28479941	28479942	rs3905706	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	10p12.1	MPP7	rs3905706-?	NR	8E-6	(spine)			Affymetrix, Illumina [5842825] (imputed)	N
802	chr10	28479941	28479942	rs3905706	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	10p12.1	MPP7	rs3905706-T	0.22	2E-16	(LSBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
802	chr10	28504943	28504944	rs11006923	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	10p12.1	MPP7	rs11006923-?	0.95	9E-6		1.5873016	[NR]	Illumina [1847262] (imputed)	N
803	chr10	28590382	28590383	rs115882204	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10p12.1	intergenic	rs115882204-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
803	chr10	28617634	28617635	rs1148186	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	10p12.1	intergenic	rs1148186-?	NR	7E-6	(FEV1/FVC decline in asthmatics)	0.2193	[0.12-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
804	chr10	28752105	28752106	rs2153299	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10p12.1	RPSAP10	rs2153299-G	0.463	3E-6	(RQmax)	0.04	[NR] increase	Illumina [899892]	N
806	chr10	28977009	28977010	rs655766	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	10p12.1	BAMBI	rs655766-T	NR	1E-6	(All)	0.08	[0.049-0.111] unit increase	Illumina [6900000] (imputed)	N
806	chr10	29027222	29027223	rs1248993	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	10p12.1	BAMBI	rs1248993-?	NR	6E-6	(Afro-Caribbean)	4.27	[2.28-8.01]	Illumina [2485249] (imputed)	N
808	chr10	29289030	29289031	rs11007350	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	10p12.1	intergenic	rs11007350-?	NR	3E-6		1.37	[1.20-1.56]	Illumina [948142]	N
808	chr10	29291897	29291898	rs1612122	20038947	Shyn SI	2009-12-29	Mol Psychiatry	Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.	Major depressive disorder (broad)	3,957 European ancestry cases, 3,428 European ancestry controls	NA	10p12.1	NR	rs1612122-T	0.48	7E-6		1.17	[NR]	Affymetrix, Perlegen [2391203] (imputed)	N
808	chr10	29336848	29336849	rs788076	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		10p12.1	LYZL1	rs788076-A	NR	2E-6		0.0439	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
809	chr10	29364696	29364697	rs10826566	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	10p12.1	intergenic	rs10826566-A	0.17	4E-6		1.16	[1.09-1.23]	Affymetrix, Illumina [~ 2300000] (imputed)	N
809	chr10	29487364	29487365	rs4387258	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	10p12.1	intergenic	rs4387258-G	0.14	4E-6			[NR]	Affymetrix [398699]	N
812	chr10	29812601	29812602	rs7070678	22550155	Edelstein LC	2012-05-01	Circulation	Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress.	Platelet thrombus formation	125 European ancestry individuals, 116 African American individuals	NA	10p11.23	SVIL	rs7070678-?	NR	4E-8	(AA)	0.006807	[0.0044-0.0092] unit decrease	Illumina [at least 620901]	N
813	chr10	30008662	30008663	rs1927457	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Normalized brain volume	753 European ancestry cases, 883 European ancestry controls	NA	10p11.23	SVIL	rs1927457-?	0.31	8E-6			[NR]	Illumina [551642]	N
814	chr10	30087358	30087359	rs2986961	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	10p11.23	intergenic	rs2986961-C	0.26	5E-7		1.14	[1.08-1.20]	Affymetrix, Illumina [~ 2300000] (imputed)	N
814	chr10	30096627	30096628	rs2986971	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	10p11.23	intergenic	rs2986971-G	0.48	3E-6		0.49	[NR] unit increase	Illumina [324623]	N
815	chr10	30177887	30177888	rs3006564	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	10p11.23	intergenic	rs3006564-?	0.48	5E-6	(CLP)	1.32	[1.47-1.16]	Illumina [NR]	N
816	chr10	30316071	30316072	rs3739998	21088011	Erdmann J	2010-11-18	Eur Heart J	Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23.	Coronary heart disease	1,157 European ancestry cases, 1,748 European ancestry controls	7,887 European ancestry cases, 8,244 European ancestry controls	10p11.23	KIAA1462	rs3739998-C	0.44	1E-11		1.15	[1.11-1.20]	Affymetrix [254558]	N
816	chr10	30335121	30335122	rs2505083	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	10p11.23	KIAA1462	rs2505083-C	0.38	4E-8		1.07	[1.04-1.09]	Illumina [574919]	N
817	chr10	30490703	30490704	rs2462021	21041247	Perlis RH	2010-11-01	Am J Psychiatry	Genome-wide association study of suicide attempts in mood disorder patients.	Suicide risk	3,117 European ancestry Bipolar disorder cases, 1,273 European ancestry Major depressive disorder cases	2,698 European ancestry Bipolar disorder cases, 1,649 Major depressive disorder cases	10p11.23	PRKCE	rs2462021-C	NR	8E-6		1.1755		Affymetrix [1922309] (imputed)	N
817	chr10	30519831	30519832	rs2995271	23143602	Whitcomb DC	2012-11-11	Nat Genet	Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.	Pancreatitis	676 European ancestry cases, 4,507 European ancestry controls	910 European ancestry cases, 4,170 European ancestry controls	10p11.23	NR	rs2995271-T	0.762	8E-7		1.27	[1.20-1.34]	Illumina [625739]	N
818	chr10	30576937	30576938	rs12220014	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10p11.23	NR	rs12220014-?	NR	4E-6	(EA)	0.6201	[0.36-0.88] unit decrease	Illumina [up to 11892802] (imputed)	N
819	chr10	30691502	30691503	rs2050392	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10p11.23	NR	rs2050392-?	NR	2E-11	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
819	chr10	30728100	30728101	rs1042058	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10p11.23	NR	rs1042058-A	0.6	2E-9	(EA)	1.0776412		Affymetrix, Illumina [~ 9000000] (imputed)	N
819	chr10	30728100	30728101	rs1042058	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10p11.23	MAP3K8	rs1042058-C	0.592	6E-11		1.075	[1.044-1.106]	Affymetrix, Illumina [1230000] (imputed)	N
820	chr10	30834631	30834632	rs11008099	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	10p11.23	NR	rs11008099-A	0.11	9E-6		2.74	[1.54-3.94] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
820	chr10	30912029	30912030	rs399593	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	10p11.23	LYZL2	rs399593-?	NR	9E-9	(DMFS2)			Illumina [518997]	N
821	chr10	31042493	31042494	rs11008222	25138779	Mitchell LE	2014-08-18	Hum Mol Genet	Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.	Congenital left-sided heart lesions (maternal effect)	284 European ancestry case-parent trios, up to 93 case-parent trios	216 European ancestry case-parent trios, 8 case-parent trios	10p11.23	ZNF438	rs11008222-?	0.49	6E-7		1.64	[1.34-2.00]	Illumina [1712604] (imputed)	N
822	chr10	31127165	31127166	rs12413361	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	10p11.23	ZNF438	rs12413361-T	0.36	7E-8		0.02	[0.0082-0.0318] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
824	chr10	31366270	31366271	rs2994684	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	10p11.23	intergenic	rs2994684-?	0.155	3E-7	(clozapine-triglycerides)			Affymetrix [492900]	N
824	chr10	31415105	31415106	rs793108	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p11.22	ZNF438	rs793108-T	0.5	6E-7	(EA)	1.07	[1.04-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
824	chr10	31415105	31415106	rs793108	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10p11.22	ZNF438	rs793108-T	0.49	1E-9		1.08	[1.05-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
824	chr10	31415105	31415106	rs793108	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	10p11.22	ZNF438	rs793108-A	NR	3E-6		1.08	[1.06-1.09]	Illumina [465434]	N
825	chr10	31461598	31461599	rs1148233	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	10p11.22	intergenic	rs1148233-?		9E-6	(DI)	8.86	[4.61-13.11] unit increase	Illumina [693128]	N
825	chr10	31495973	31495974	rs1250307	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	10p11.22	intergenic	rs1250307-A	0.01	4E-6		0.68	[0.39-0.97] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
825	chr10	31512097	31512098	rs2484992	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	10p11.22	intergenic	rs2484992-C	0.01	5E-6		0.68	[0.39-0.97] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
825	chr10	31515131	31515132	rs2484990	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	10p11.22	intergenic	rs2484990-C	0.01	4E-6		0.68	[0.39-0.97] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
828	chr10	31968728	31968729	rs796127	24763700	Vinayagamoorthy N	2014-04-24	PLoS One	New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.	C-reactive protein levels	7,626 Korean ancestry individuals	903 Korean ancestry individuals	10p11.22	ARHGAP12	rs796127-T		3E-6		0.093	[NR] unit decrease	Affymetrix [1219546] (imputed)	N
829	chr10	31990622	31990623	rs7081678	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	10p11.22	ZEB1	rs7081678-A	0.09	6E-6		0.03	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
831	chr10	32292933	32292934	rs1251350	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10p11.22	NR	rs1251350-C	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
831	chr10	32309004	32309005	rs1775715	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	10p11.22	KIF5B	rs1775715-G	NR	5E-6		1.18	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
833	chr10	32625017	32625018	rs143713361	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	10p11.22	NR	rs143713361-T	0.022	8E-6		0.395	[0.22-0.57] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
833	chr10	32634971	32634972	rs2370759	22509378	Burri A	2012-04-11	PLoS One	A genome-wide association study of female sexual dysfunction.	Sexual dysfunction (female)	1,104 European ancestry twins	NA	10p11.22	EPC1	rs2370759-G	NR	2E-6	(Lubrication)	0.237	[0.14-0.33] unit increase	Illumina [2287762] (imputed)	N
836	chr10	32993267	32993268	rs7079041	25917933	Zai CC	2014-11-20	J Psychiatr Res	A genome-wide association study of suicide severity scores in bipolar disorder.	Suicide in bipolar disorder	959 European ancestry individuals	NA	10p11.22	CCDC7, C10orf68, ITGB1	rs7079041-A		2E-6	(suicide behaviour severity)	0.02383	[0.0067-0.0409] unit increase	Affymetrix, Illumina [2659407] (imputed)	N
839	chr10	33294774	33294775	rs11009175	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	10p11.22	ITGB1	rs11009175-A	0.17	5E-6		0.16	[NR] unit increase	Affymetrix, Illumina [up to 2500000] (imputed)	N
839	chr10	33405086	33405087	rs7902627	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10p11.22	NR	rs7902627-C	0.135378764285714	8E-6	(IGP10)	0.1989	[0.11-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
840	chr10	33475281	33475282	rs2228638	23297363	Cordell HJ	2013-01-07	Hum Mol Genet	Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.	Tetralogy of Fallot	835 European ancestry cases, 5,159 European ancestry controls	798 European ancestry cases, 2,931 European ancestry controls	10p11.22	NRP1	rs2228638-A	0.096	2E-7		1.447	[1.239-1.69]	Illumina [516131]	N
840	chr10	33503178	33503179	rs2506155	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10p11.22	intergenic	rs2506155-A	0.15	3E-6		1.08	[1.04-1.11]	Affymetrix, Illumina [~ 2300000] (imputed)	N
845	chr10	34088052	34088053	rs1412115	21682944	Alkelai A	2011-06-20	Int J Neuropsychopharmacol	DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population.	Schizophrenia	155 Jewish-Israeli ancestry cases and 176 Jewish-Israeli ancestry controls from 107 families	99 Arab-Israeli ancestry cases and 99 Arab-Israeli ancestry controls from 57 families	10p11.22	NRP1, PARD3	rs1412115-?	0.37	6E-6				Illumina [311517]	N
846	chr10	34231274	34231275	rs7905537	20709820	Kong X	2010-08-13	Am J Respir Crit Care Med	Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.	Emphysema-related traits	2,383 European ancestry cases	NA	10p11.22	PARD3	rs7905537-A	0.75	8E-7	(quantitative)	1.85	[NR] HU increase	Illumina [499578]	N
846	chr10	34257611	34257612	rs1780436	21621269	Aragam N	2011-05-26	J Affect Disord	Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.	Major depressive disorder	1,726 cases, 1,630 controls	NA	10p11.22	PARD3	rs1780436-?		3E-6				Perlegen [433556]	N
850	chr10	34817987	34817988	rs563507	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	10p11.21	PARD3	rs563507-A	0.04	9E-6		2.0	[1.40-2.70]	Affymetrix [307944]	N
854	chr10	35287649	35287650	rs17582416	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	10p11.21	intergenic	rs17582416-G	0.35	2E-9		1.16	[NR]	Affymetrix, Illumina [635547] (imputed)	N
854	chr10	35295430	35295431	rs11010067	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	10p11.21	NR	rs11010067-G	0.3513	2E-8	(EA)	1.075212	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
854	chr10	35295430	35295431	rs11010067	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10p11.21	NR	rs11010067-G	0.3513	6E-25	(EA)	1.1115612	[1.09-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
854	chr10	35295430	35295431	rs11010067	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10p11.21	NR	rs11010067-G	0.3513	1E-26	(EA)	1.1415846	[1.12-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
854	chr10	35295430	35295431	rs11010067	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10p11.21	CREM	rs11010067-G	0.346	2E-25		1.115	[1.082-1.148]	Affymetrix, Illumina [1230000] (imputed)	N
855	chr10	35466184	35466185	rs34779708	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10p11.21	NR	rs34779708-?	NR	2E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
856	chr10	35535694	35535695	rs12242110	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	10p11.21	CREM	rs12242110-G	0.315	1E-9		1.15	[1.10-1.20]	Affymetrix, Illumina [953241] (imputed)	N
856	chr10	35554053	35554054	rs12261843	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	10p11.21	CCNY	rs12261843-G	0.29	7E-10		1.07	[1.03-1.12]	Affymetrix, Illumina [~ 1100000] (imputed)	N
859	chr10	35918231	35918232	rs114088342	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10p11.21	NR	rs114088342-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
860	chr10	36060308	36060309	rs11010290	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	10p11.21	FZD8	rs11010290-?	NR	9E-6				Affymetrix [NR]	N
864	chr10	36648039	36648040	rs1779876	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	10p11.21	FZD8, ANKRD30A	rs1779876-?	0.10	3E-6	(Lipoprotein A)			Illumina [496032]	N
866	chr10	36885920	36885921	rs1360573	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	10p11.21	FZD8, ANKRD30A	rs1360573-A	0.752	2E-6	(P. gingi)	2.75	[1.78-4.26]	Affymetrix [~ 2500000] (imputed)	N
868	chr10	37169294	37169295	rs1192691	25134534	Chen K	2014-08-19	Nat Commun	Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.	Epithelial ovarian cancer	1,044 Han Chinese ancestry cases, 1,172 Han Chinese ancestry controls	1,452 Han Chinese ancestry cases, 2,803 Han Chinese ancestry controls	10p11.21	NAMPTL, ANKRD30A	rs1192691-C	0.54	3E-8		1.23	[1.05-1.43]	Illumina [710714]	N
871	chr10	37508449	37508450	rs1148259	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	10p11.21	ANKRD30A	rs1148259-?	0.42	3E-9	(SM)			Affymetrix [187454]	N
871	chr10	37559579	37559580	rs1200821	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	10p11.21	ANKRD30A	rs1200821-?	0.47	6E-6	(MCH)			Affymetrix [70897]	N
874	chr10	37982096	37982097	rs7474896	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	10p11.21	ZNF248	rs7474896-T	0.14	9E-7		1.46	[1.25-1.69]	Illumina [457251]	N
880	chr10	38761237	38761238	rs180858466	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10p11.1	NR	rs180858466-?	NR	3E-6	(Japanese)	0.8521	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
912	chr10	42917475	42917476	rs2489715	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Helix rolling	4,919 Latin American individuals	NA	10q11.21	NR	rs2489715-?	NR	8E-7	(FDR adjusted)			Illumina [671038]	N
915	chr10	43341104	43341105	rs2142991	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	10q11.21	BMS1	rs2142991-?	0.17	3E-7		1.3	[1.18-1.44]	Illumina [531451]	N
917	chr10	43610365	43610366	rs1864400	25310821	Kim JH	2014-10-13	PLoS One	A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.	Hirschsprung disease	123 Korean ancestry cases, 432 Korean ancestry controls	NA	10q11.21	RET, CSGALNACT2, RASGEF1A	rs1864400-?	NR	6E-19				Illumina [757260]	N
917	chr10	43612608	43612609	rs2742234	19196962	Garcia-Barcelo MM	2009-02-05	Proc Natl Acad Sci U S A	Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.	Hirschsprung disease	181 Chinese ancestry cases, 346 Chinese ancestry controls	190 Chinese ancestry cases, 510 Chinese ancestry controls	10q11.21	RET, GALNACT-2, RASGEF1A	rs2742234-T	NR	4E-18				Affymetrix [293836]	N
918	chr10	43755753	43755754	rs28461806	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q11.21	RASGEF1A	rs28461806-G	0.049	5E-8	(MCP1 )	0.05	[NR] pg/mL increase	Illumina [899892]	N
918	chr10	43755753	43755754	rs28461806	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q11.21	RASGEF1A	rs28461806-G	0.049	2E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
919	chr10	43814048	43814049	rs2503875	20598377	Nischwitz S	2010-06-30	J Neuroimmunol	Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.	Multiple sclerosis	590 European ancestry cases, 825 European ancestry controls	NA	10q11.21	intergenic	rs2503875-A	NR	2E-7		1.66	[1.37-2.00]	Illumina [~ 300000]	N
919	chr10	43849826	43849827	rs10466239	24478790	Lee JH	2014-01-17	Front Genet	Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.	Telomere length	4,829 European ancestry individuals from 586 families with exceptional longevity	NA	10q11.21	FXYD4, RASGEF1A	rs10466239-T	0.073	7E-6			[NR]	Illumina [9250000] (imputed)	N
924	chr10	44458713	44458714	rs898549	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q11.21	C10orf136	rs898549-A	0.278	6E-6	(Birth weight )	0.06	[NR] kg increase	Illumina [899892]	N
924	chr10	44524674	44524675	rs17154929	22628157	Levine AJ	2012-05-24	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults.	HIV-associated dementia	1,287 European ancestry HIV-infected male individuals	NA	10q11.21	intergenic	rs17154929-T	NR	1E-7	(SPEED)			Illumina [~ 2500000] (imputed)	N
924	chr10	44541564	44541565	rs10508881	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	10q11.21	HNRNPA3P1, LOC100130539	rs10508881-A	0.405	4E-7		1.19	[1.11-1.27]	Illumina [580699]	N
926	chr10	44753866	44753867	rs501120	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	10q11.21	CXCL12	rs501120-C	NR	2E-6		1.087	[1.05-1.14]	Illumina [575000] (imputed)	N
926	chr10	44753866	44753867	rs501120	17634449	Samani NJ	2007-07-18	N Engl J Med	Genomewide association analysis of coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	875 European ancestry cases, 1,644 European ancestry controls	10q11.21	CXCL12	rs501120-T	0.87	9E-8		1.33	[1.20-1.48]	Affymetrix [377857]	N
926	chr10	44775823	44775824	rs1746048	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	10q11.21	CXCL12	rs1746048-C	0.87	3E-10		1.09	[1.07-1.13]	Affymetrix, Illumina [~ 2300000] (imputed)	N
926	chr10	44775823	44775824	rs1746048	19198609	Kathiresan S	2009-02-08	Nat Genet	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Myocardial infarction (early onset)	2,967 European ancestry cases, 3,075 European ancestry controls	9,746 European ancestry cases, 9,746 European ancestry controls	10q11.21	CXCL12	rs1746048-C	0.84	7E-9		1.17	[1.11-1.24]	Affymetrix [~ 2500000] (imputed)	N
927	chr10	44827196	44827197	rs10900020	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	10q11.21	CXCL12	rs10900020-?	NR	3E-6	(Positive symptoms)	0.1536	[NR] unit decrease	Affymetrix [696491]	N
927	chr10	44864167	44864168	rs266095	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	10q11.21	CXCL12	rs266095-?		8E-9	(EA)	56.3	[NR]	Illumina [936149]	N
928	chr10	45034671	45034672	rs7072122	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	10q11.21	NR	rs7072122-?	0.051	6E-7		1.73	[1.397-2.141] unit increase	Illumina [563945]	N
929	chr10	45123378	45123379	rs11239177	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	10q11.21	NR	rs11239177-?	NR	3E-6		1.2306	[NR]	Affymetrix [722112]	N
929	chr10	45133276	45133277	rs11239187	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	10q11.21	CXCL12, TMEM72	rs11239187-?	NR	6E-6		0.56	[0.32-0.80] unit decrease	Illumina [1075436] (imputed)	N
929	chr10	45161108	45161109	rs1480597	17052657	Fung HC	2006-09-28	Lancet Neurol	Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.	Parkinson's disease	267 European ancestry cases, 270 European ancestry controls	NA	10q11.21	intergenic	rs1480597-?	NR	2E-6		2.5	[1.67-3.33]	Illumina [408803]	N
930	chr10	45319653	45319654	rs7911712	20709820	Kong X	2010-08-13	Am J Respir Crit Care Med	Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.	Emphysema-related traits	2,383 European ancestry cases	NA	10q11.21	AL139 119.2	rs7911712-A	0.15	6E-6	(quantitative)	2.05	[NR] HU increase	Illumina [499578]	N
932	chr10	45553728	45553729	rs12358699	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second to forced vital capacity ratio)	1,015 European ancestry individuals, 541 African American individuals	NA	10q11.21	NR	rs12358699-?		9E-6	(EA)			Illumina [up to 524000]	N
935	chr10	45955063	45955064	rs2279434	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	10q11.21	ANUBL1, FAM21C, AGAP4, MARCH8, ALOX5	rs2279434-T	0.12	3E-11		0.123	[0.088-0.158] unit increase	Illumina [561583]	N
935	chr10	45955063	45955064	rs2279434	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	10q11.21	ANUBL1, FAM21C, AGAP4, MARCH8, ALOX5	rs2279434-T	0.12	4E-12		0.128	[0.093-0.163] unit increase	Illumina [561583]	N
935	chr10	45958880	45958881	rs2291429	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q11.21	MARCH8	rs2291429-A	0.76	9E-11	(3-dehydrocarnitine)	0.017	[0.011-0.023] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
935	chr10	45966421	45966422	rs901683	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	10q11.21	MARCH8	rs901683-A	0.08	2E-16	(EA, MCV)	0.364	[0.27-0.46] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
936	chr10	46007532	46007533	rs11239544	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	10q11.22	MARCH8	rs11239544-T	0.27	3E-8		0.037	[0.023-0.051] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
936	chr10	46013276	46013277	rs970548	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	10q11.22	MARCH8, ALOX5	rs970548-C	0.26	2E-10		0.026	[NR] unit increase	NR [NR] (imputed)	N
936	chr10	46013276	46013277	rs970548	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	10q11.22	MARCH8, ALOX5	rs970548-C	0.26	8E-9		0.025	[NR] unit increase	NR [NR] (imputed)	N
936	chr10	46024728	46024729	rs11239550	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	10q11.22	MARCH8	rs11239550-G	NR	1E-10		0.0	[0.002-0.003] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
936	chr10	46082984	46082985	rs76934034	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	10q11.22	MARCH8	rs76934034-T	0.91	5E-9	(EA)	1.14	[1.10-1.18]	Affymetrix, Illumina [up to 16852405] (imputed)	N
936	chr10	46082984	46082985	rs76934034	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	10q11.22	MARCH8	rs76934034-T	0.91	1E-8		1.13	[1.09-1.17]	Affymetrix, Illumina [up to 16852405] (imputed)	N
954	chr10	48388227	48388228	rs11204213	24963161	Chen P	2014-06-24	Hum Mol Genet	CMPK1 and RBP3 are associated with corneal curvature in Asian populations.	Corneal curvature	3,178 Chinese ancestry individuals, 2,138 Malay ancestry individuals, 2,124 Asian Indian ancestry individuals	2,473 Chinese ancestry individuals, 2,747 Japanese ancestry individuals	10q11.22	RBP3	rs11204213-T	0.04	1E-13		0.29	[0.21-0.37] unit increase	Illumina [~ 7000000] (imputed)	N
955	chr10	48499270	48499271	rs9421748	26256467	Wojczynski MK	2015-07-03	Metabolism	Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).	Postprandial triglyceride response to high fat diet meal	872 European ancestry individuals	843 Old Order Amish individuals	10q11.22	intergenic	rs9421748-A	0.5279	5E-7	(AUC)	0.2526	[0.15-0.35] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
964	chr10	49699956	49699957	rs4838605	21310492	Huang YC	2011-02-08	Ophthalmology	Genome-wide association study of diabetic retinopathy in a Taiwanese population.	Diabetic retinopathy	174 Han Chinese ancestry Type 2 diabetes cases, 575 Han Chinese ancestry Type 2 diabetes controls, 100 Han Chinese ancestry non-diabetic controls	NA	10q11.22	ARHGAP22	rs4838605-C	NR	2E-9				Illumina [~ 550000]	N
964	chr10	49735562	49735563	rs10776612	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	10q11.22	ARHGAP22	rs10776612-T	0.519	2E-6		1.33	[1.18-1.49]	Illumina [948658]	N
964	chr10	49763165	49763166	rs10776614	23593239	van der Loos MJ	2013-04-04	PLoS One	The molecular genetic architecture of self-employment.	Self-employment	7,734 European ancestry cases, 42,893 European ancestry controls	737 cases, 2,534 controls	10q11.22	ARHGAP22	rs10776614-T	0.16	7E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
965	chr10	49911356	49911357	rs17771318	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	10q11.23	WDFY4	rs17771318-A	0.01	9E-8	(cohort study)	4.29	[2.52-7.32]	Affymetrix, Illumina [up to 2600000] (imputed)	N
965	chr10	49911356	49911357	rs17771318	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	10q11.23	WDFY4	rs17771318-A	0.01	9E-8		1.46	[0.93-1.99] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
965	chr10	49936335	49936336	rs11101442	19165918	Graham RR	2008-08-01	Nat Genet	Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.	Systemic lupus erythematosus	431 European ancestry cases, 2,155 European ancestry controls	447 European ancestry trios, 293 trios	10q11.23	c10orf64	rs11101442-?	0.32	3E-6			[NR]	Affymetrix [313238]	N
966	chr10	49985109	49985110	rs10857636	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	10q11.23	WDFY4	rs10857636-T	0.06	2E-7	(Bupropion, General side effects)			Affymetrix [421789]	N
966	chr10	50025395	50025396	rs7097397	20169177	Yang W	2010-02-12	PLoS Genet	Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.	Systemic lupus erythematosus	314 Chinese ancestry cases, 1,484 Chinese ancestry controls	2,630 Chinese ancestry cases, 2,155 Chinese ancestry controls, 314 Thai ancestry cases, 519 Thai ancestry controls	10q11.23	WDFY4	rs7097397-G	0.28	8E-12		1.3	[1.21-1.40]	Illumina [514221]	N
966	chr10	50042950	50042951	rs877819	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	10q11.23	WDFY4	rs877819-A	0.18	8E-9		1.46		Illumina [2100739] (imputed)	N
967	chr10	50097818	50097819	rs2671692	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10q11.23	WDFY4	rs2671692-A	0.52	3E-9		1.07	[1.05-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
967	chr10	50103071	50103072	rs12252129	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	10q11.23	WDFY4	rs12252129-G	2.0E-4	7E-6	(O'Connor Slope)	1.186	[NR] unit increase	Illumina [546355]	N
967	chr10	50109222	50109223	rs3849150	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Subclinical atherosclerosis traits (other)	Up to 984 individuals	NA	10q11.23	LRRC18	rs3849150-?	NR	2E-6	(AAC)			Affymetrix [70897]	N
967	chr10	50119053	50119054	rs1913517	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	10q11.23	LRRC18, WDFY4	rs1913517-A	0.29	7E-12		1.24	[1.17-1.32]	Illumina [493955]	N
968	chr10	50229637	50229638	rs2137920	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	10q11.23	intergenic	rs2137920-T	0.18	1E-6		1.15	[1.09-1.22]	Affymetrix, Illumina [~ 2300000] (imputed)	N
969	chr10	50453932	50453933	rs17009617	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	8,631 European ancestry individuals	NA	10q11.23	C10orf71	rs17009617-A	0.055	5E-6		0.45	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
970	chr10	50500458	50500459	rs17774576	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		10q11.23	C10orf71	rs17774576-C	NR	5E-6		0.3891	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
970	chr10	50561506	50561507	rs4838508	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	10q11.23	intergenic	rs4838508-?	NR	2E-6	(progression)			Illumina [NR]	N
970	chr10	50576632	50576633	rs12220898	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	10q11.23	DRGX	rs12220898-?	NR	1E-6	(Monocyte chemoattractant protein-1)			Affymetrix [2543887] (imputed)	N
978	chr10	51524970	51524971	rs3123078	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	10q11.22	NR	rs3123078-?	NR	1E-19				Illumina [541129]	N
978	chr10	51543343	51543344	rs4631830	25434496	Kim S	2014-11-27	Gene	Genetic variants at 1q32.1, 10q11.2 and 19q13.41 are associated with prostate-specific antigen for prostate cancer screening in two Korean population-based cohort studies.	Prostate-specific antigen levels	554 Korean ancestry individuals	1,575 Korean ancestry individuals	10q11.22	MSMB	rs4631830-C	0.45	7E-11		0.12	[0.081-0.159] unit increase	Affymetrix [2163106] (imputed)	N
978	chr10	51549495	51549496	rs10993994	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	10q11.22	MSMB	rs10993994-T	NR	4E-8		1.2048193	[NR]	Illumina [4550396] (imputed)	N
978	chr10	51549495	51549496	rs10993994	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	10q11.22	NR	rs10993994-T	0.401	7E-21		1.21	[1.16-1.25]	Affymetrix [up to 19977088] (imputed)	N
978	chr10	51549495	51549496	rs10993994	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	10q11.22	NR	rs10993994-T	0.4	3E-18	(European)	1.21	[1.16-1.26]	Affymetrix [up to 19977088] (imputed)	N
978	chr10	51549495	51549496	rs10993994	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	10q11.22	PARG, TIMM23, MSMB	rs10993994-T	0.39	1E-15		1.16	[1.12-1.20]	Illumina [1531807] (imputed)	N
978	chr10	51549495	51549496	rs10993994	24753544	Knipe DW	2014-04-21	Cancer Epidemiol Biomarkers Prev	Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.	Prostate cancer	1,146 European ancestry cases, 1,804 European ancestry controls	1,854 European ancestry cases, 1,437 European ancestry controls	10q11.22	MSMB	rs10993994-T		3E-26		0.4	[0.33-0.47] unit increase	Illumina [514432] (imputed)	N
978	chr10	51549495	51549496	rs10993994	24740154	Lange EM	2014-04-16	PLoS One	Genome-wide association scan for variants associated with early-onset prostate cancer.	Prostate cancer (early onset)	931 European ancestry cases, 4,120 European ancestry controls	2,571 European ancestry cases, 921 European ancestry controls	10q11.22	MSMB	rs10993994-T	0.42	2E-7		1.32	[1.21-1.43]	Illumina [2639562] (imputed)	N
978	chr10	51549495	51549496	rs10993994	23555189	Chen Z	2013-04-01	Neoplasia	Genome-wide association study identifies genetic determinants of urine PCA3 levels in men.	PCA3 expression level	1,371 European ancestry individuals	NA	10q11.22	MSMB	rs10993994-T	0.41	1E-9		1.25	[1.18-1.32] unit increase	Illumina [3076666] (imputed)	N
978	chr10	51549495	51549496	rs10993994	23269536	Sun J	2012-12-27	Hum Genet	Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population.	Prostate-specific antigen levels	1,999 Chinese ancestry males	1,496 Chinese ancestry males	10q11.22	MSMB	rs10993994-T	0.50	5E-17		0.12	[NR] % increase	Illumina [> 709211] (imputed)	N
978	chr10	51549495	51549496	rs10993994	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	10q11.22	MSMB	rs10993994-T	NR	5E-6		1.18	[1.10-1.27]	Illumina [571243]	N
978	chr10	51549495	51549496	rs10993994	21160077	Gudmundsson J	2010-12-15	Sci Transl Med	Genetic correction of PSA values using sequence variants associated with PSA levels.	Serum prostate-specific antigen levels	7,538 European ancestry individuals	2,373 European ancestry individuals	10q11.22	MSMB	rs10993994-T	0.39	7E-13		9.2	[NR] % increase	Illumina [304070]	N
978	chr10	51549495	51549496	rs10993994	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	10q11.22	MSMB	rs10993994-?	NR	3E-8				Illumina [510687]	N
978	chr10	51549495	51549496	rs10993994	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	10q11.22	MSMB	rs10993994-T	0.40	9E-29		1.25	[1.17-1.34]	Illumina [541129]	N
978	chr10	51549495	51549496	rs10993994	18264096	Thomas G	2008-02-10	Nat Genet	Multiple loci identified in a genome-wide association study of prostate cancer.	Prostate cancer	1,172 European ancestry cases, 1,157 European ancestry controls	3,941 European ancestry cases, 3,964 European ancestry controls	10q11.22	MSMB	rs10993994-T	0.40	7E-13		1.16	[1.04-1.29]	Illumina [527869]	N
978	chr10	51593353	51593354	rs7085433	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	10q11.22	MSMB, NCOA4, TIMM23	rs7085433-A	0.15	7E-9		0.095	[0.064-0.126] unit increase	Illumina [561583]	N
978	chr10	51593353	51593354	rs7085433	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	10q11.22	MSMB, NCOA4, TIMM23	rs7085433-A	0.15	6E-10		0.102	[0.071-0.133] unit increase	Illumina [561583]	N
981	chr10	52010707	52010708	rs10508921	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	10q11.23	ASAH2	rs10508921-T	0.13	9E-7	(AA-triglyceride response)	25.7	[15.47-35.93] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
982	chr10	52119296	52119297	rs2574975	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	10q11.23	SGMS1	rs2574975-?	NR	5E-6	(SF6)			Affymetrix [5476100] (imputed)	N
983	chr10	52259793	52259794	rs12251514	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10q11.23	NR	rs12251514-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
986	chr10	52568615	52568616	rs4256922	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	10q11.23	ASAH2B, A1CF	rs4256922-C	0.85	1E-6		0.08	[0.049-0.111] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
986	chr10	52646092	52646093	rs10821905	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	10q11.23	A1CF, ASAH2	rs10821905-A	0.18	7E-17		0.057	[0.043-0.071] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
986	chr10	52649770	52649771	rs4290173	25986216	Toyoda H	2015-05-15	Brain Behav Immun	A polymorphism in CCR1/CCR3 is associated with narcolepsy.	Narcolepsy with cataplexy	409 Japanese ancestry cases, 1,562 Japanese ancestry controls	240 Japanese ancestry cases, 869 Japanese ancestry controls	10q11.23	A1CF	rs4290173-C	0.902	5E-6		1.8	[1.4-2.32]	Affymetrix [525196]	N
987	chr10	52789354	52789355	rs6479874	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10q11.23	intergenic	rs6479874-T	0.14	3E-7		1.09	[1.05-1.12]	Affymetrix, Illumina [~ 2300000] (imputed)	N
989	chr10	52957720	52957721	rs7897633	25338677	Kariuki SN	2014-10-23	Genes Immun	Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.	Interferon alpha levels in systemic lupus erythematosus	88 European ancestry high interferon alpha cases, 322 European ancestry low interferon alpha cases	715 European ancestry cases, 450 African American cases	10q21.1	PRKG1, A1CF, CSTF2T	rs7897633-?	NR	3E-8	(EA)	1.6949153	[1.28-2.27]	Illumina [291943]	N
991	chr10	53242702	53242703	rs293314	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q21.1	PRKG1	rs293314-G	0.056	7E-6	(Sitting height )	0.03	[NR] cm increase	Illumina [899892]	N
991	chr10	53262632	53262633	rs1952138	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q21.1	NR	rs1952138-C	0.766987149087672	3E-6	(IGP47)	0.1724	[0.1-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
992	chr10	53455561	53455562	rs14168	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (non-dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	10q21.1	PRKG1, CSTF2T	rs14168-A	0.94	3E-6				Affymetrix, Illumina [~ 2500000] (imputed)	N
993	chr10	53493472	53493473	rs7922491	21907864	Ferreira MA	2011-09-10	Lancet	Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.	Asthma	12,475 European ancestry cases, 19,967 European ancestry controls	3,322 European ancestry cases, 22,036 European ancestry controls	10q21.1	PRKG1	rs7922491-A	0.11	5E-7		1.13	[1.08-1.19]	Illumina [NR] (imputed)	N
994	chr10	53681793	53681794	rs11000137	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10q21.1	intergenic	rs11000137-T	0.17	3E-6		1.07	[1.04-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
995	chr10	53794531	53794532	rs10823991	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Gait rhythm	2,946 individuals	NA	10q21.1	PRKG1	rs10823991-A	0.27	1E-6		0.138	[0.083-0.193] unit increase	Illumina [6200000] (imputed)	N
996	chr10	53944441	53944442	rs61847307	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q21.1	NR	rs61847307-C	NR	4E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
997	chr10	54130752	54130753	rs112125027	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	10q21.1	DKK1	rs112125027-A	0.94	5E-6	(Age 20-60 years)	0.1042	[0.060-0.149] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
998	chr10	54223976	54223977	rs1733724	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	10q21.1	DKK1	rs1733724-A	0.25	3E-8		0.49	[0.31-0.67] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
998	chr10	54223976	54223977	rs1733724	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	10q21.1	DKK1	rs1733724-T	0.21	7E-8	(QRS duration)	5.62	[3.58-7.66] % s.d. increase	Illumina [306060]	N
999	chr10	54341872	54341873	rs2222800	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	10q21.1	LOC399774	rs2222800-A		4E-6		0.04	[0.02-0.05] unit decrease	Affymetrix [~ 2500000] (imputed)	N
999	chr10	54365957	54365958	rs139326003	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	10q21.1	MBL2	rs139326003-A	NR	2E-7	(Perc15, Cases)	4.2	[2.34-6.06] unit increase	Illumina [7600000] (imputed)	N
1000	chr10	54427824	54427825	rs1373004	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	10q21.1	MBL2	rs1373004-T	0.13	2E-12	(LSBMD)	0.06	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1000	chr10	54439727	54439728	rs7902708	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	730 East Asian ancestry individuals, 2,380 European ancestry individuals, 11,150 individuals	11,058 European ancestry individuals, 2,870 European and other ancestry individuals, 21,439 individuals	10q21.1	MBL2, DKK1	rs7902708-G	0.89	1E-8	(BUA)	0.07	[0.05-0.10] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
1000	chr10	54439727	54439728	rs7902708	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	10q21.1	MBL2, DKK1	rs7902708-G	0.88	5E-15	(VOS)	0.09	[0.07-0.12] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
1001	chr10	54574995	54574996	rs6480975	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	10q21.1	MBL2	rs6480975-C	0.84	3E-6	(EA)	1.21	[1.12-1.32]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1001	chr10	54574995	54574996	rs6480975	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	10q21.1	MBL2	rs6480975-C	0.84	2E-6		1.21	[1.12-1.32]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1006	chr10	55266230	55266231	rs10825036	25867717	Song N	2015-04-13	PLoS One	Prediction of breast cancer survival using clinical and genetic markers by tumor subtypes.	Disease-free survival in breast cancer	1,732 Korean ancestry cases	1,494 Korean ancestry cases	10q21.1	PCDH15	rs10825036-G	0.32	4E-7	(HR- HER2-)	2.26	[1.34-3.81]	Affymetrix [2210580] (imputed)	N
1006	chr10	55294873	55294874	rs583012	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	10q21.1	intergenic	rs583012-?	NR	2E-6	(CRP2)			Affymetrix [70897]	N
1007	chr10	55384742	55384743	rs12256830	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	10q21.1	PCDH15	rs12256830-?		2E-10	(Hispanic)			Illumina [NR]	N
1007	chr10	55407090	55407091	rs7077606	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	10q21.1	PCDH15	rs7077606-T	0.12	5E-7	(AA-glucose response)	5.44	[3.32-7.56] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1008	chr10	55480887	55480888	rs72793138	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q21.1	NR	rs72793138-A	NR	4E-6		1.14	[NR]	Illumina [7158791] (imputed)	N
1010	chr10	55785187	55785188	rs11004008	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q21.1	NR	rs11004008-G	NR	2E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1011	chr10	55913699	55913700	rs12245299	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	10q21.1	PCDH15	rs12245299-T	2.0E-4	6E-8	(O'Connor Slope)	1.392	[NR] unit increase	Illumina [546355]	N
1011	chr10	55955609	55955610	rs10825269	24797007	Holliday EG	2014-05-01	Am J Gastroenterol	Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.	Irritable bowel syndrome	Up to 172 European ancestry cases, 1,398 European ancestry controls	Up to 485 European ancestry cases, up to 716 European ancestry controls	10q21.1	PCDH15	rs10825269-T	0.12	5E-6		1.55	[1.28-1.87]	Affymetrix [~ 2500000] (imputed)	N
1013	chr10	56204290	56204291	rs7476422	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia)	303 Japanese ancestry cases, 880 Japanese ancestry controls	23 Japanese ancestry cases	10q21.1	PCDH15	rs7476422-G	0.82	3E-7	(Allelic)	2.06	[1.54-2.75]	Illumina [555600]	N
1015	chr10	56391302	56391303	rs1937395	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	10q21.1	intergenic	rs1937395-?	NR	1E-6	(FEV1 decline in non-asthmatics)	0.1607	[0.095-0.226] unit increase	Illumina [~ 2500000] (imputed)	N
1018	chr10	56777023	56777024	rs10763170	26029870	Ye Z	2015-06-01	Nat Genet	Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma.	Sporadic pituitary adenoma	771 Han Chinese cases, 2,788 Han Chinese controls	2,542 Han Chinese cases, 3,620 Han Chinese controls	10q21.1	PCDH15	rs10763170-A	0.201	7E-10		1.28	[1.18-1.39]	Illumina [720770]	N
1018	chr10	56790968	56790969	rs10740609	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Weight	1,780 Filipino ancestry females	NA	10q21.1	PCDH15	rs10740609-T	0.07	5E-6		3.41	[1.94-4.87] kg increase	Affymetrix [2073674] (imputed)	N
1018	chr10	56848984	56848985	rs16906916	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	10q21.1	intergenic	rs16906916-?	0.03	8E-7	(CSJC, EA, RF+)	14.0	[NR] unit increase	Illumina [534053]	N
1023	chr10	57416960	57416961	rs1916521	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	10q21.1	ZWINT	rs1916521-?	NR	5E-7	(recessive)			Affymetrix [361034]	N
1024	chr10	57549295	57549296	rs16907840	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	10q21.1	MTRNR2L5	rs16907840-?	NR	8E-6	(Whole cohort; EA)			Illumina [up to 871502]	N
1030	chr10	58339240	58339241	rs1907926	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Nicotine use	7,188 European ancestry individuals	NA	10q21.1	NR	rs1907926-G	0.110	2E-7		9.793	[NR] unit increase	Illumina [527829]	N
1034	chr10	58974807	58974808	rs11005694	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10q21.1	NR	rs11005694-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
1036	chr10	59189177	59189178	rs4462262	21310492	Huang YC	2011-02-08	Ophthalmology	Genome-wide association study of diabetic retinopathy in a Taiwanese population.	Diabetic retinopathy	174 Han Chinese ancestry Type 2 diabetes cases, 575 Han Chinese ancestry Type 2 diabetes controls, 100 Han Chinese ancestry non-diabetic controls	NA	10q21.1	intergenic	rs4462262-C	NR	9E-8				Illumina [~ 550000]	N
1039	chr10	59572707	59572708	rs17625382	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	10q21.1	NR	rs17625382-G	0.84	3E-6		1.41	[1.27-1.55]	Illumina [4058415] (imputed)	N
1040	chr10	59724387	59724388	rs7070038	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	10q21.1	IPMK	rs7070038-A	0.11	7E-6	(AA)	0.21	[0.11-0.31] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1040	chr10	59724402	59724403	rs7088591	24001895	Kelly TN	2013-09-03	Hypertension	Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.	Blood pressure	22,275 East Asian ancestry individuals, 4,325 South East Asian ancestry individuals	28,783 East Asian ancestry individuals	10q21.1	MRPS35P3	rs7088591-A	0.97	9E-7	(PP)	1.44	[0.87-2.01] mm of mercury decrease	Affymetrix, Illumina [~ 2400000] (imputed)	N
1040	chr10	59758642	59758643	rs11006002	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	10q21.1	IPMK	rs11006002-?		7E-6		0.799	[NR] unit decrease	Illumina [5970354] (imputed)	N
1042	chr10	59913150	59913151	rs1819658	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	10q21.1	UBE2D1	rs1819658-C	0.774	9E-17		1.19	[1.13-1.25]	Affymetrix, Illumina [953241] (imputed)	N
1042	chr10	59947230	59947231	rs1199103	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q21.1	NR	rs1199103-G	0.78	5E-11	(EA)	1.1072454		Affymetrix, Illumina [~ 9000000] (imputed)	N
1042	chr10	59972298	59972299	rs2153283	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q21.1	NR	rs2153283-?	NR	2E-11	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1042	chr10	59985670	59985671	rs2790232	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q21.1	IPMK	rs2790232-A	0.029	8E-6	(Arm span )	0.01	[NR] cm increase	Illumina [899892]	N
1042	chr10	59997925	59997926	rs2790216	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10q21.1	CISD1, IPMK	rs2790216-G	0.778	8E-9		1.066	[1.029-1.104]	Affymetrix, Illumina [1230000] (imputed)	N
1043	chr10	60082667	60082668	rs16912145	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	10q21.1	UBE2D1	rs16912145-?	NR		<1 x 10-6 (multiple phenotypes)			Illumina [530992]	N
1044	chr10	60204601	60204602	rs7085387	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	10q21.1	intergenic	rs7085387-?	0.8	2E-6		1.14	[1.08-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1044	chr10	60210789	60210790	rs10509091	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	10q21.1	TFAM	rs10509091-T	0.35	6E-6		0.074	[0.043-0.105] unit increase	Affymetrix [1532051] (imputed)	N
1044	chr10	60265403	60265404	rs7084402	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	10q21.1	BICC1	rs7084402-G	0.48	2E-13		0.108	[0.079-0.137] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1045	chr10	60318896	60318897	rs1658442	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		10q21.1	NR	rs1658442-A		3E-6		0.055	[NR] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1046	chr10	60519447	60519448	rs11006253	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q21.1	NR	rs11006253-A	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1047	chr10	60555577	60555578	rs11006263	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q21.1	BICC1	rs11006263-G	0.03	7E-6	(Height )	0.03	[NR] cm increase	Illumina [899892]	N
1047	chr10	60571434	60571435	rs4948317	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	10q21.1	NR	rs4948317-C	0.27	7E-8	(East Asian)	1.1	[1.06-1.13]	Affymetrix, Illumina [2400000] (imputed)	N
1047	chr10	60668570	60668571	rs61458523	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10q21.1	NR	rs61458523-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1050	chr10	61073613	61073614	rs11812286	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	10q21.1	intergenic	rs11812286-?	NR	3E-6	(Recessive model)	2.27	unit decrease	Illumina [542562]	N
1051	chr10	61146581	61146582	rs11006464	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		10q21.1	FAM13C1	rs11006464-T	NR	5E-6		0.3832	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1053	chr10	61380481	61380482	rs10826334	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	10q21.2	SLC16A9	rs10826334-G	0.92	4E-8	(Oz alcohol/week)	0.864	[0.54-1.19] unit decrease	Affymetrix [2500000] (imputed)	N
1053	chr10	61380481	61380482	rs10826334	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	10q21.2	SLC16A9	rs10826334-G	0.91	1E-8	(drinks/week)	0.238	[0.14-0.34] unit decrease	Affymetrix [2500000] (imputed)	N
1053	chr10	61380481	61380482	rs10826334	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Mean arterial pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	10q21.2	SLC16A9	rs10826334-G	0.92	9E-7	(Oz alcohol/week)	0.529	[0.31-0.75] unit decrease	Affymetrix [2500000] (imputed)	N
1053	chr10	61413352	61413353	rs12356193	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q21.2	SLC16A9	rs12356193-A	0.84	8E-20	(X-11381)	0.024	[0.018-0.03] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1053	chr10	61413352	61413353	rs12356193	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q21.2	SLC16A9	rs12356193-A	0.84	4E-63	(carnitine)	0.027	[0.023-0.031] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1053	chr10	61413352	61413353	rs12356193	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q21.2	SLC16A9	rs12356193-A	0.84	2E-33	(propionylcarnitine)	0.033	[0.027-0.039] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1053	chr10	61413352	61413353	rs12356193	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	10q21.2	SLC16A9	rs12356193-A	0.83	1E-8		0.08	[0.051-0.105] mg/dl increase	Affymetrix, Illumina [2493963] (imputed)	N
1053	chr10	61434518	61434519	rs1171606	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	10q21.2	SLC16A9	rs1171606-A	0.2768	6E-30	(Carnitine)	0.0497	[0.041-0.058] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1053	chr10	61449563	61449564	rs7094971	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	10q21.2	SLC16A9	rs7094971-G	0.147	3E-14	(carnitine)	0.049	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1053	chr10	61467181	61467182	rs1171617	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q21.2	SLC16A9	rs1171617-T	0.78	2E-14	(butyrylcarnitine)	0.036	[0.026-0.046] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1053	chr10	61468588	61468589	rs1171616	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	10q21.2	SLC16A9	rs1171616-T	0.7835	6E-10	(Propionylcarnitine)	0.0979	[0.067-0.129] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1053	chr10	61469089	61469090	rs1171615	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	10q21.2	SLC16A9	rs1171615-T	0.78	2E-95	(carnitine/X-12798)	0.077	[0.069-0.085] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1053	chr10	61469089	61469090	rs1171615	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q21.2	SLC16A9	rs1171615-T	0.78	4E-11	(hexanoylcarnitine)	0.025	[0.017-0.033] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1053	chr10	61469089	61469090	rs1171615	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q21.2	SLC16A9	rs1171615-T	0.78	3E-34	(X-12798)	0.048	[0.04-0.056] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1053	chr10	61469537	61469538	rs1171614	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	10q21.2	SLC16A9	rs1171614-T	0.2037	2E-81	(Carnitine)	0.1031	[0.093-0.114] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1053	chr10	61469537	61469538	rs1171614	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Acylcarnitine levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	10q21.2	SLC16A9	rs1171614-T	0.203	2E-15	(Acetylcarnitine)	0.0689	[0.052-0.086] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1053	chr10	61469537	61469538	rs1171614	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q21.2	SLC16A9	rs1171614-T	0.22	7E-14	(X-11261)	0.042	[0.03-0.054] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1053	chr10	61469537	61469538	rs1171614	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q21.2	SLC16A9	rs1171614-T	0.22	3E-23	(acetylcarnitine)	0.028	[0.022-0.034] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1053	chr10	61469537	61469538	rs1171614	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	10q21.2	SLC16A9	rs1171614-T	0.22	2E-28		0.079	[0.065-0.093] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1054	chr10	61530397	61530398	rs187296392	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10q21.2	NR	rs187296392-?	NR	3E-6	(Native Hawaiian)	1.1487	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1055	chr10	61664194	61664195	rs77329626	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10q21.2	NR	rs77329626-?	NR	8E-6	(AA)	1.4476	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1055	chr10	61690194	61690195	rs75768999	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10q21.2	NR	rs75768999-?	NR	2E-9	(Japanese)	0.6094	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1056	chr10	61803061	61803062	rs1002442	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	10q21.2	ANK3	rs1002442-?		3E-7				Illumina [859311]	N
1057	chr10	61885891	61885892	rs12761450	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-42)	3,528 European ancestry individuals	NA	10q21.2	ANK3	rs12761450-T	0.415	1E-6		0.07	[0.031-0.109] unit decrease	Illumina [2316178] (imputed)	N
1057	chr10	61926865	61926866	rs10509125	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Behavioral disturbance or psychiatric symptoms and prion disease	Up to 170 cases, 5,200 controls	NA	10q21.2	ANK3	rs10509125-?	0.402	1E-6		2.09	[1.55-2.82]	Illumina [518938]	N
1058	chr10	62085336	62085337	rs10761482	20185149	Athanasiu L	2010-02-23	J Psychiatr Res	Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.	Schizophrenia	201 European ancestry cases, 305 European ancestry controls	2,663 European ancestry cases, 13,780 European ancestry controls	10q21.2	ANK3	rs10761482-?	NR	8E-6		1.16	[NR]	Affymetrix [572888]	N
1059	chr10	62179811	62179812	rs10994336	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	10q21.2	ANK3	rs10994336-T	0.05	9E-9		1.45	[NR]	Affymetrix [1769948] (imputed)	N
1059	chr10	62181127	62181128	rs10994338	20351715	Liu Y	2010-03-30	Mol Psychiatry	Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.	Bipolar disorder or major depressive disorder (combined)	4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls	NA	10q21.2	ANK3	rs10994338-?	NR	5E-7				Affymetrix, Perlegen [1472580] (imputed)	N
1059	chr10	62185493	62185494	rs4948418	22182935	Chen DT	2011-12-20	Mol Psychiatry	Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.	Bipolar disorder	5,568 European ancestry cases, 7,187 European ancestry controls, 1,000 Taiwanese ancestry cases, 1,000 Taiwanese ancestry controls	1,115 European ancestry cases, 2,728 European ancestry controls	10q21.2	ANK3	rs4948418-T	NR	4E-10				Affymetrix, Illumina [748555]	N
1059	chr10	62222106	62222107	rs10994359	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	10q21.2	ANK3	rs10994359-C	NR	3E-9	(5 degree of freedom test)	1.081	[1.03-1.13]	NR [1252901] (imputed)	N
1060	chr10	62279123	62279124	rs10994397	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	10q21.2	ANK3	rs10994397-?	0.065	7E-9				NR [1252901] (imputed)	N
1060	chr10	62279123	62279124	rs10994397	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	10q21.2	ANK3	rs10994397-T	NR	3E-7		1.22	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
1060	chr10	62322033	62322034	rs10994415	24618891	Muhleisen	2014-03-11	Nat Commun	Genome-wide association study reveals two new risk loci for bipolar disorder.	Bipolar disorder	9,747 European ancestry cases, 14,278 European ancestry controls	NA	10q21.2	ANK3	rs10994415-C	NR	7E-11		1.27	[NR]	Illumina [2267487] (imputed)	N
1060	chr10	62346637	62346638	rs16915157	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	10q21.2	intergenic	rs16915157-?	NR	7E-7		1.13	[NR]	Affymetrix [745006]	N
1060	chr10	62346637	62346638	rs16915157	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	10q21.2	NR	rs16915157-?	NR	5E-6		1.1	[1.06-1.14]	Affymetrix, Illumina [1252901] (imputed)	N
1062	chr10	62548389	62548390	rs3213056	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	10q21.2	CDC2	rs3213056-A	0.03	3E-6		0.376	[0.22-0.53] unit decrease	Illumina [~ 2400000] (imputed)	N
1062	chr10	62551889	62551890	rs2456778	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	10q21.2	CDK1	rs2456778-?	NR	5E-6	(Cocaine-induced paranoia, AA)			Illumina [37426733] (imputed)	N
1062	chr10	62551889	62551890	rs2456778	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	10q21.2	CDK1	rs2456778-?	NR	3E-6	(Cocaine-induced paranoia)			Illumina [37426733] (imputed)	N
1063	chr10	62760741	62760742	rs10994607	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Food allergy	671 European ancestry child cases, 144 European ancestry non-allergic non-sensitized child controls, 234 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	10q21.2	RHOBTB1	rs10994607-?	NR	7E-6				Illumina [6459842] (imputed)	N
1063	chr10	62780126	62780127	rs10994613	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Milk allergy	291 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 614 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	10q21.2	RHOBTB1, TMEM26	rs10994613-?	NR	5E-6				Illumina [6459842] (imputed)	N
1067	chr10	63185661	63185662	rs114154155	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10q21.2	intergenic	rs114154155-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1067	chr10	63192413	63192414	rs7088627	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	10q21.2	intergenic	rs7088627-A	0.653	7E-6		0.106	[0.061-0.151] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1067	chr10	63307474	63307475	rs2787702	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	10q21.2	TMEM26	rs2787702-?	NR	9E-6				Affymetrix, Illumina [~ 1300000]	N
1068	chr10	63348766	63348767	rs1350172	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	10q21.2	C10orf107	rs1350172-?	NR	4E-7				Affymetrix, Illumina [~ 1300000]	N
1068	chr10	63361986	63361987	rs2814021	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q21.2	C10orf107	rs2814021-G	0.204	7E-6	(Fat free mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
1069	chr10	63467552	63467553	rs4590817	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	10q21.2	C10orf107	rs4590817-G	0.83	2E-18	(Mean Arterial Pressure)	0.576	[0.45-0.71] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1069	chr10	63524590	63524591	rs1530440	19430483	Newton-Cheh C	2009-05-10	Nat Genet	Genome-wide association study identifies eight loci associated with blood pressure.	Diastolic blood pressure	34,433 European ancestry individuals	Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals	10q21.2	c10orf107, RHOBTB1, ARID5B, TMEM26, RTKN2	rs1530440-T	0.19	1E-9		0.39	[0.27-0.51] mm Hg decrease	Affymetrix, Illumina [2497993] (imputed)	N
1070	chr10	63636530	63636531	rs2675609	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	10q21.2	ARID5B	rs2675609-T	0.43	2E-6	(Japanese)	0.036	[0.022-0.050] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1070	chr10	63695047	63695048	rs6479779	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q21.2	NR	rs6479779-C	0.345369661175423	2E-6	(IGP5)	0.1909	[0.11-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
1070	chr10	63695047	63695048	rs6479779	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q21.2	NR	rs6479779-C	0.345248463284379	1E-6	(IGP45)	0.1943	[0.12-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
1071	chr10	63721175	63721176	rs7090445	23996088	Migliorini G	2013-08-30	Blood	Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.	Acute lymphoblastic leukemia (B-cell precursor)	1,658 European ancestry child cases, 4,723 European ancestry controls	1,449 European ancestry child cases, 1,488 European ancestry controls	10q21.2	ARID5B	rs7090445-?	NR	5E-54				Illumina [382776] (imputed)	N
1071	chr10	63722894	63722895	rs4245595	25310577	Evans TJ	2014-10-13	PLoS One	Confirmation of Childhood Acute Lymphoblastic Leukemia Variants, ARID5B and IKZF1, and Interaction with Parental Environmental Exposures.	Acute lymphoblastic leukemia (childhood)	358 European ancestry cases, 1,192 European ancestry controls	441 European ancestry cases, 1,542 European ancestry controls	10q21.2	ARID5B	rs4245595-C	0.34	2E-9		1.63	[1.38-1.93]	Illumina [7162141] (imputed)	N
1071	chr10	63723576	63723577	rs10821936	23512250	Xu H	2013-03-19	J Natl Cancer Inst	Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.	Acute lymphoblastic leukemia (childhood)	972 European ancestry cases, 1,386 European ancestry controls, 89 African American cases, 1,363 African American controls, 305 Hispanic cases, 1,008 Hispanic controls	574 European ancestry cases, 2,601 European ancestry controls, 128 African American cases, 1,075 African American controls, 143 Hispanic cases, 640 Hispanic controls	10q21.2	ARID5B	rs10821936-C	0.33	6E-46		1.86	[1.71-2.03]	Affymetrix [709059]	N
1071	chr10	63723576	63723577	rs10821936	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	10q21.2	ARID5B	rs10821936-C	0.31	4E-15		1.46	[1.33 - 1.60]	Affymetrix [355750]	N
1071	chr10	63723576	63723577	rs10821936	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	10q21.2	ARID5B	rs10821936-C	0.31	1E-11	(ETV6-RUNX1 positive)	1.42	[1.29 - 1.58]	Affymetrix [355750]	N
1071	chr10	63723576	63723577	rs10821936	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	10q21.2	ARID5B	rs10821936-C	0.34	1E-15		1.91	[1.60-2.20]	Affymetrix [307944]	N
1071	chr10	63752158	63752159	rs7089424	19684604	Papaemmanuil E	2009-08-16	Nat Genet	Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	907 European ancestry cases, 2,398 European ancestry controls	NA	10q21.2	ARID5B	rs7089424-C	0.34	7E-19		1.65	[1.54-1.76]	Illumina [291473]	N
1071	chr10	63779870	63779871	rs71508903	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10q21.2	ARID5B	rs71508903-T	0.24	1E-8	(East Asian)	1.18	[1.12-1.25]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1071	chr10	63779870	63779871	rs71508903	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10q21.2	ARID5B	rs71508903-T	0.22	5E-22		1.16	[1.13-1.20]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1071	chr10	63779870	63779871	rs71508903	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10q21.2	ARID5B	rs71508903-T	0.21	3E-15	(EA)	1.15	[1.11-1.20]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1071	chr10	63785088	63785089	rs10821944	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	10q21.2	ARID5B	rs10821944-G	0.36	6E-18		1.16	[1.12-1.20]	Affymetrix, Illumina [1948139]	N
1071	chr10	63805616	63805617	rs4948496	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	10q21.2	ARID5B, RTKN2	rs4948496-C	0.63	5E-11		1.1765		Illumina [2100739] (imputed)	N
1071	chr10	63830285	63830286	rs7090871	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	10q21.2	ARID5B	rs7090871-T	0.59	6E-10		0.06	[0.04-0.08] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
1072	chr10	63915971	63915972	rs7912580	24751813	Drago A	2014-06-01	Pharmacogenet Genomics	Genome-wide association study supports the role of the immunological system and of the neurodevelopmental processes in response to haloperidol treatment.	Response to haloperidol in psychosis	96 European ancestry cases	NA	10q21.2	ARID5B, RTKN2	rs7912580-A	0.057	1E-6	(Total PANSS scores)			Illumina [1080870] (imputed)	N
1072	chr10	63958111	63958112	rs3125734	23028356	Myouzen K	2012-09-13	PLoS Genet	Functional variants in NFKBIE and RTKN2 involved in activation of the NF-&#x003ba;B pathway are associated with rheumatoid arthritis in Japanese.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	5,604 Japanese ancestry cases, 31,982 Japanese ancestry controls	10q21.2	RTKN2	rs3125734-T	0.108	5E-9		1.2	[1.13-1.27]	Illumina [NR]	N
1073	chr10	64000335	64000336	rs79193624	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q21.2	NR	rs79193624-T	NR	9E-8		1.22	[NR]	Illumina [7158791] (imputed)	N
1073	chr10	64036880	64036881	rs6479800	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10q21.2	RTKN2	rs6479800-C	0.18	4E-8		1.11	[1.07-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1073	chr10	64036880	64036881	rs6479800	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10q21.2	RTKN2	rs6479800-C	0.1	4E-6	(East Asian)	1.19	[1.11-1.29]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1074	chr10	64187563	64187564	rs7089814	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	10q21.2	ADO, ZNF365, ALDH7A1P4	rs7089814-C	0.375	3E-9		0.096	[0.065-0.127] cup size increase	Illumina [7422970] (imputed)	N
1074	chr10	64218999	64219000	rs12220488	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (non-dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	10q21.2	ZNF365	rs12220488-A	0.55	8E-7				Affymetrix, Illumina [~ 2500000] (imputed)	N
1074	chr10	64223382	64223383	rs10995170	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	10q21.2	ZNF365	rs10995170-?	NR	3E-7	(High intelligence)	4.42	[2.77-6.07] unit increase	Illumina [795637]	N
1075	chr10	64251976	64251977	rs10822013	21908515	Cai Q	2011-09-09	Hum Mol Genet	Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium.	Breast cancer	2,062 East Asian ancestry cases, 2,066 East Asian ancestry controls	15,091 East Asian ancestry cases, 14,877 East Asian ancestry controls	10q21.2	ZNF365	rs10822013-T	0.47	6E-9		1.12	[1.06-1.18]	Affymetrix [684457]	N
1075	chr10	64257827	64257828	rs10509168	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Percent mammographic density	7,916 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	10q21.2	ZNF365	rs10509168-T	0.41	1E-9				Affymetrix, Illumina [~ 2500000] (imputed)	N
1075	chr10	64278681	64278682	rs10995190	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	10q21.2	ZNF365	rs10995190-A	0.16	1E-16		0.24	[0.18-0.30] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1075	chr10	64278681	64278682	rs10995190	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	10q21.2	ZNF365	rs10995190-G	0.846	1E-7		1.12	[1.08-1.18]	Illumina [NR]	N
1075	chr10	64278681	64278682	rs10995190	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	10q21.2	ZNF365	rs10995190-G	0.84	1E-36		1.16	[1.14-1.19]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1075	chr10	64278681	64278682	rs10995190	21278746	Lindstrom S	2011-01-30	Nat Genet	Common variants in ZNF365 are associated with both mammographic density and breast cancer risk.	Percent mammographic density	4,877 European ancestry females	1,145 European ancestry females, 1,690 females	10q21.2	ZNF365	rs10995190-A	0.15	1E-9		0.18	[0.12-0.25] % decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1075	chr10	64278681	64278682	rs10995190	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	10q21.2	ZNF365	rs10995190-G	0.85	5E-15		1.16	[1.10-1.22]	Illumina [582886]	N
1075	chr10	64319538	64319539	rs80353807	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q21.2	NR	rs80353807-G	NR	4E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1075	chr10	64338845	64338846	rs2393895	25534755	Chaste P	2014-09-30	Biol Psychiatry	A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?	Autism spectrum disorder-related traits	1633 European ancestry trios, 942 trios	NA	10q21.2	ZNF365	rs2393895-?	NR	2E-7	(Higher ADOS social affect impairment)	1.91	[1.48-2.47]	Illumina [up to 2017939]	N
1076	chr10	64391374	64391375	rs10995245	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy	1,189 Chinese ancestry cases, 1,997 Chinese ancestry controls	2,693 European ancestry cases, 11,495 European ancestry controls	10q21.2	ZNF365	rs10995245-A	0.348	1E-11		1.23	[1.16-1.31]	Affymetrix [603382]	N
1076	chr10	64398465	64398466	rs10995251	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	10q21.2	ZNF365	rs10995251-C	0.511	6E-20		1.28	[1.22-1.36]	Illumina [606164]	N
1076	chr10	64415183	64415184	rs7076156	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	10q21.2	ADO, ZNF365, ERG2	rs7076156-G	0.751	7E-9		1.19	[1.10-1.30]	Affymetrix, Illumina [1060934] (imputed)	N
1076	chr10	64438485	64438486	rs10995271	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	10q21.2	ZNF365	rs10995271-C	0.39	4E-20		1.25	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1076	chr10	64445563	64445564	rs10761659	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q21.2	NR	rs10761659-G	0.54	2E-20	(EA)	1.1244732		Affymetrix, Illumina [~ 9000000] (imputed)	N
1076	chr10	64445563	64445564	rs10761659	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q21.2	NR	rs10761659-G	0.54	5E-53	(EA)	1.1662705		Affymetrix, Illumina [~ 9000000] (imputed)	N
1076	chr10	64445563	64445564	rs10761659	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q21.2	NR	rs10761659-A	0.54	1E-49	(EA)	1.1978161		Affymetrix, Illumina [~ 9000000] (imputed)	N
1076	chr10	64445563	64445564	rs10761659	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10q21.2	intergenic	rs10761659-G	0.543	6E-46		1.166	[1.134-1.20]	Affymetrix, Illumina [1230000] (imputed)	N
1076	chr10	64445563	64445564	rs10761659	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	10q21.2	ZNF365	rs10761659-G	NR	5E-6		1.28	[NR]	Illumina [508934]	N
1076	chr10	64445563	64445564	rs10761659	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	10q21.2	ZNF365	rs10761659-G	0.538	4E-22		1.23	[1.18-1.29]	Affymetrix, Illumina [953241] (imputed)	N
1076	chr10	64445563	64445564	rs10761659	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	10q21.2	intergenic	rs10761659-G	0.46	2E-6		1.23	[1.05-1.45]	Affymetrix [469557]	N
1076	chr10	64470674	64470675	rs224136	17435756	Rioux JD	2007-04-15	Nat Genet	Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.	Crohn's disease	946 cases, 977 controls	530 trios, 353 cases, 207 controls	10q21.2	intergenic	rs224136-?	0.81	1E-10		1.67	[NR]	Illumina [304413]	N
1077	chr10	64490494	64490495	rs442309	25108386	Hou S	2014-08-10	Nat Genet	Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.	Vogt-Koyanagi-Harada syndrome	774 Han Chinese ancestry cases, 2,009 Han Chinese ancestry controls	764 Han Chinese ancestry cases, 3594 Han Chinese ancestry controls	10q21.2	EGR2, ADO, ZNF365	rs442309-T	.256	3E-11		1.37	[1.25-1.51]	Affymetrix, Illumina [2208258] (imputed)	N
1077	chr10	64507903	64507904	rs58600253	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	10q21.2	intergenic	rs58600253-T	0.120	3E-12		1.22	[NR]	Illumina [4577171] (imputed)	N
1077	chr10	64541318	64541319	rs224090	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q21.2	NR	rs224090-A	0.4075	4E-26	(EA)	1.1376477	[1.11-1.16]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1077	chr10	64560469	64560470	rs1444418	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	10q21.3	EGR2, ADO	rs1444418-A	0.676	2E-7		1.17	[1.10-1.24]	Illumina [606164]	N
1077	chr10	64580574	64580575	rs224278	22327514	Postel-Vinay S	2012-02-12	Nat Genet	Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.	Ewing sarcoma	Up to 427 European ancestry cases, up to 4,352 European ancestry controls	661 European ancestry cases, 1,299 European ancestry controls	10q21.3	EGR2, ADO, ZNF365	rs224278-C	0.58	4E-17		1.66	[1.42-1.93]	NR [286966]	N
1078	chr10	64655912	64655913	rs10995356	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	10q21.3	EGR2	rs10995356-A	0.39	3E-6	(Reward dependence)	0.11	unit increase	Affymetrix, Illumina [1252222] (imputed)	N
1079	chr10	64866911	64866912	rs10995439	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q21.3	NR	rs10995439-G	0.500403761034329	3E-6	(IGP34)	0.1441	[0.084-0.205] unit increase	Illumina [~ 2500000] (imputed)	N
1079	chr10	64866911	64866912	rs10995439	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q21.3	NR	rs10995439-G	0.500403761034329	1E-7	(IGP33)	0.1635	[0.1-0.22] unit increase	Illumina [~ 2500000] (imputed)	N
1079	chr10	64872410	64872411	rs10822136	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q21.3	NR	rs10822136-C	0.805465852941177	7E-7	(IGP25)	0.2085	[0.13-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
1079	chr10	64872410	64872411	rs10822136	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q21.3	NR	rs10822136-C	0.805344702630406	5E-7	(IGP30)	0.2106	[0.13-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
1079	chr10	64877937	64877938	rs7901794	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q21.3	NR	rs7901794-C	NR	7E-6		1.1235955	[NR]	Illumina [7158791] (imputed)	N
1080	chr10	64934547	64934548	rs10822145	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	10q21.3	JMJD1C	rs10822145-C	0.5	7E-11		0.038	[0.026-0.05] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1080	chr10	64963448	64963449	rs4379723	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Platelet count	7,943 African American children, 6,234 European ancestry children	NA	10q21.3	JMJD1C	rs4379723-T	NR	7E-7		5.4297	[3.28-7.58] unit decrease	Illumina [544917]	N
1080	chr10	65006455	65006456	rs6479891	22354554	Thompson SD	2012-02-21	Arthritis Rheum	Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.	Arthritis (juvenile idiopathic)	814 European ancestry cases, 658 European ancestry controls, 2,400 controls	1,744 European ancestry cases, 7,010 European ancestry controls	10q21.3	JMJD1C	rs6479891-T	0.14	2E-7		1.19	[1.07-1.32]	Affymetrix [561137]	N
1081	chr10	65026857	65026858	rs10995485	22890011	Frazier-Wood AC	2012-08-09	Pharmacogenet Genomics	Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.	Response to fenofibrate	817 European ancestry individuals	NA	10q21.3	JMJ1C	rs10995485-G	NR	2E-6	(LDL diameter)	1.18	[0.69-1.67] unit decrease	Affymetrix [~ 2543887] (imputed)	N
1081	chr10	65027609	65027610	rs10761731	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	10q21.3	JMJD1C	rs10761731-T	0.44	8E-12		0.031	[NR] mg/dL decrease	NR [NR] (imputed)	N
1081	chr10	65027609	65027610	rs10761731	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Platelet count	13,582 European ancestry individuals	NA	10q21.3	JMJD1C	rs10761731-A	NR	2E-6		3.81	[NR] unit decrease	Illumina [476395]	N
1081	chr10	65027609	65027610	rs10761731	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	10q21.3	JMJD1C	rs10761731-T	NR	2E-24		3.849	[3.11-4.59] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1081	chr10	65027609	65027610	rs10761731	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	10q21.3	JMJD1C	rs10761731-T	0.43	3E-12		2.38	[1.64-3.12] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1081	chr10	65050658	65050659	rs7075195	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	10q21.3	JMJD1C, NRBF2, REEP3	rs7075195-A	NR	3E-18		0.13	[NR] unit increase	Illumina [476395]	N
1081	chr10	65050658	65050659	rs7075195	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	10q21.3	JMJD1C	rs7075195-A	NR	2E-44		0.014	[0.012-0.016] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1081	chr10	65101206	65101207	rs10740118	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	8,631 European ancestry individuals	NA	10q21.3	JMJD1C, NRBF2, REEP3	rs10740118-C	0.44	8E-9		0.25	[0.15-0.35] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1081	chr10	65104499	65104500	rs7896518	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	10q21.3	JMJD1C	rs7896518-A	0.324	2E-12	(Platelet Count)	5.18	[3.73-6.63] 10^9 L increase	Affymetrix, Illumina [~ 2200000] (imputed)	N
1081	chr10	65121564	65121565	rs12355784	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	10q21.3	JMJD1C	rs12355784-A	0.48	5E-10	(ALP)	0.03	[0.017-0.033] U/L increase	Affymetrix, Illumina [up to 496032]	N
1081	chr10	65133155	65133156	rs2393967	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	10q21.3	JMJD1C	rs2393967-A	NR	3E-21		0.01	[0.01-0.018] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1081	chr10	65133821	65133822	rs7923609	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	10q21.3	JMJD1C, REEP3	rs7923609-A	0.521	1E-6		0.021	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1081	chr10	65133821	65133822	rs7923609	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	10q21.3	JMJD1C, NRBF2	rs7923609-G	0.50	6E-23		2.2	[1.70-2.70] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1081	chr10	65138909	65138910	rs7910927	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	10q21.3	JMJD1C	rs7910927-T	0.51	6E-35	(Men + Women)	0.048	[0.040-0.056] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1081	chr10	65138909	65138910	rs7910927	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	10q21.3	JMJD1C	rs7910927-T	0.51	2E-13	(Women)	0.046	[0.034-0.058] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1081	chr10	65138909	65138910	rs7910927	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	10q21.3	JMJD1C	rs7910927-T	0.51	1E-25	(Men)	0.05	[0.041-0.059] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1082	chr10	65162152	65162153	rs7896783	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	10q21.3	JMJD1C	rs7896783-A	0.48	9E-22	(EA)	0.01	[0.008-0.012] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
1082	chr10	65261183	65261184	rs2893923	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	10q21.3	JMJD1C	rs2893923-T	0.336	5E-8	(epinephrine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
1083	chr10	65274926	65274927	rs10761779	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	10q21.3	REEP3	rs10761779-G	0.49	7E-10	(ALP)	0.03	[0.017-0.033] U/L increase	Affymetrix, Illumina [up to 496032]	N
1083	chr10	65315396	65315397	rs12411988	22354554	Thompson SD	2012-02-21	Arthritis Rheum	Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.	Arthritis (juvenile idiopathic)	814 European ancestry cases, 658 European ancestry controls, 2,400 controls	1,744 European ancestry cases, 7,010 European ancestry controls	10q21.3	REEP3	rs12411988-C	0.13	3E-7		1.18	[1.06-1.31]	Affymetrix [561137]	N
1083	chr10	65318765	65318766	rs10761785	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q21.3	REEP3	rs10761785-G	0.486	3E-6	(EA, women)	0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1083	chr10	65318765	65318766	rs10761785	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	10q21.3	JMJD1C, NRBF2, REEP3	rs10761785-T	0.498	7E-7		0.01	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1083	chr10	65337152	65337153	rs10822184	22936694	Jin G	2012-08-30	Hum Mol Genet	Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.	Androgen levels	3,225 European ancestry male individuals	NA	10q21.3	JMJD1C	rs10822184-T	0.49	1E-8	(serum testosterone)	0.058	[0.038-0.078] unit decrease	Illumina [642461]	N
1085	chr10	65658743	65658744	rs938036	24172245	Haga S	2013-10-31	J Hum Genet	A genome-wide association study of third molar agenesis in Japanese and Korean populations.	Tooth agenesis (mandibular third molar)	80 East Asian ancestry mandibular cases, 69 East Asian ancestry maxillary cases, 338 East Asian ancestry controls	NA	10q21.3	intergenic	rs938036-T		8E-6		2.88	[1.81-4.59]	Illumina [532105]	N
1091	chr10	66448471	66448472	rs7900909	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	10q21.3	ANXA2P3, LOC645084, RPL7AP1	rs7900909-C	0.15	8E-6	(LDL, sum)			Illumina [~ 2500000] (imputed)	N
1101	chr10	67743653	67743654	rs72791417	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	10q21.3	CTNNA3	rs72791417-A	0.16	1E-6		1.4493	[0.59-0.8]	Illumina [1795103]	N
1103	chr10	67964372	67964373	rs1471384	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	10q21.3	CTNNA3	rs1471384-?		4E-6	(AA)			Illumina [up to 524000]	N
1103	chr10	67966573	67966574	rs12251332	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	10q21.3	CTNNA3	rs12251332-C		5E-8		0.17	[0.11-0.23] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1104	chr10	68088507	68088508	rs10762058	19187332	Kim SH	2009-02-01	Clin Exp Allergy	Alpha-T-catenin (CTNNA3) gene was identified as a risk variant for toluene diisocyanate-induced asthma by genome-wide association analysis.	Asthma (toluene diisocyanate-induced)	84 Korean ancestry cases, 263 Korean ancestry controls	NA	10q21.3	CTNNA3	rs10762058-G	0.25	6E-6		5.0	[2.36-10.6]	Affymetrix [312978]	N
1105	chr10	68165266	68165267	rs2441755	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	10q21.3	CTNNA3	rs2441755-?	NR	4E-6	(DMFS5)			Illumina [518997]	N
1105	chr10	68224885	68224886	rs2441727	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	10q21.3	NR	rs2441727-G	0.05	1E-6		1.35	[1.15-1.60]	Illumina [439828]	N
1106	chr10	68374083	68374084	rs7909235	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q21.3	CTNNA3	rs7909235-A	0.193	8E-6	(ALT/AST)	0.03	[NR] unit increase	Illumina [899892]	N
1108	chr10	68598291	68598292	rs7902091	23358160	Borglum AD	2013-01-29	Mol Psychiatry	Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci.	Schizophrenia (cytomegalovirus infection interaction)	888 European ancestry cases, 882 European ancestry controls	2539 European ancestry cases, 5486 European ancestry controls	10q21.3	CTNNA3	rs7902091-A	NR	7E-7		5.331	[NR]	Illumina [541148]	N
1108	chr10	68640950	68640951	rs4142041	17158188	Bierut LJ	2006-12-07	Hum Mol Genet	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Nicotine dependence	482 European ancestry cases, 466 European ancestry controls	568 European ancestry cases, 413 European ancestry controls	10q21.3	CTNNA3	rs4142041-G	0.34	6E-6		1.14	[0.97-1.35]	Perlegen [2400000]	N
1110	chr10	68879802	68879803	rs10997517	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	10q21.3	intergenic	rs10997517-C	0.23	6E-6		1.14	[1.08-1.21]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1118	chr10	69937191	69937192	rs10997979	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	10q21.3	MYPN	rs10997979-A	0.501	4E-13		0.021	[0.015-0.027] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1118	chr10	69943633	69943634	rs58180147	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10q21.3	NR	rs58180147-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
1118	chr10	69967446	69967447	rs6480314	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (disc area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	10q21.3	MYPN	rs6480314-A	NR	2E-7		0.244	[0.14-0.35] unit increase	Illumina [~ 2740000] (imputed)	N
1118	chr10	69991852	69991853	rs7916697	21307088	Khor CC	2011-02-09	Hum Mol Genet	Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.	Optic disc area	2,132 Indian ancestry individuals, 2,313 Malay ancestry individuals	9,326 European ancestry individuals	10q21.3	ATOH7	rs7916697-A	NR	2E-15	(Asian)	0.0938	[NR] mm2 decrease	Illumina [551808]	N
1119	chr10	69998054	69998055	rs1900005	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	10q21.3	ATOH7	rs1900005-A	NR	5E-31		0.018	[0.014-0.022] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1119	chr10	70000880	70000881	rs1900004	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	10q21.3	ATOH7	rs1900004-T	0.23	2E-63	(EA)	0.102	[0.090-0.114] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1119	chr10	70000880	70000881	rs1900004	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	10q21.3	ATOH7	rs1900004-T	0.23	1E-73		0.097	[0.087-0.107] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1119	chr10	70000880	70000881	rs1900004	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Vertical cup-disc ratio	7,360 European ancestry individuals	4,455 European ancestry individuals	10q21.3	ATOH7, PBLD	rs1900004-T	0.22	2E-8		0.01	[0.009-0.017] mm2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1119	chr10	70000880	70000881	rs1900004	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Optic disc parameters	7,360 European ancestry individuals	4,455 European ancestry individuals	10q21.3	ATOH7, PBLD	rs1900004-T	0.22	3E-35		0.07	[0.06-0.08] mm decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1119	chr10	70011837	70011838	rs3858145	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	10q21.3	ATOH7	rs3858145-G	0.25	8E-8		0.015	[0.0091-0.0209] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1119	chr10	70011837	70011838	rs3858145	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	10q21.3	ATOH7	rs3858145-G	0.25	4E-10	(EA)	0.019	[0.013-0.025] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1119	chr10	70011837	70011838	rs3858145	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (disc area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	10q21.3	ATOH7	rs3858145-A	NR	3E-10		0.295	[0.20-0.39] unit increase	Illumina [~ 2740000] (imputed)	N
1119	chr10	70011837	70011838	rs3858145	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	10q21.3	ATOH7	rs3858145-A	NR	2E-7		0.209	[0.11-0.30] unit increase	Illumina [~ 2740000] (imputed)	N
1119	chr10	70014229	70014230	rs10998035	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders (purging via substances)	600 European ancestry female cases, 1,921 European ancestry female controls	NA	10q21.3	ATOH7	rs10998035-C	0.945	4E-6		0.151	[0.086-0.216] unit decrease	Illumina [6150213] (imputed)	N
1119	chr10	70019370	70019371	rs12571093	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (disc area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	10q21.3	PBLD	rs12571093-G	NR	2E-10		0.313	[0.21-0.42] unit increase	Illumina [~ 2740000] (imputed)	N
1123	chr10	70626428	70626429	rs10998466	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	10q22.1	intergenic	rs10998466-A	0.01	4E-6		0.53	[0.31-0.75] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
1124	chr10	70712061	70712062	rs2017305	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	10q22.1	DDX21	rs2017305-A	0.92	9E-6		0.22	[NR] unit decrease	Affymetrix, Illumina [up to 2500000] (imputed)	N
1124	chr10	70751672	70751673	rs2429030	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q22.1	NR	rs2429030-T	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1126	chr10	70931473	70931474	rs1802295	21874001	Kooner JS	2011-08-28	Nat Genet	Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.	Type 2 diabetes	5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls	13,170 South Asian ancestry cases, 25,398 South Asian ancestry controls	10q22.1	VPS26A	rs1802295-A	0.26	4E-8		1.08	[1.05-1.12]	Illumina [568976]	N
1126	chr10	70939800	70939801	rs10998624	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	10q22.1	SUPV3L1, VPS26A	rs10998624-A		1E-9	(EA)			Illumina [NR]	N
1126	chr10	70982940	70982941	rs4746822	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	10q22.1	SUPV3L1, SRGN, HK1, VPS26A, HKDC1	rs4746822-T	0.675	1E-22	(2HPG)	0.28	[NR] unit increase	Illumina [up to 945994] (imputed)	N
1127	chr10	71093391	71093392	rs16926246	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	10q22.1	HK1	rs16926246-C	0.90	3E-54		0.09	[0.08-0.10] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1127	chr10	71093391	71093392	rs16926246	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	10q22.1	HK1	rs16926246-T	NR	2E-11		0.11	[0.08-0.14] g/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1127	chr10	71093391	71093392	rs16926246	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hematocrit	24,167 European ancestry individuals	9,456 European ancestry individuals	10q22.1	HK1	rs16926246-T	NR	1E-13		0.33	[0.24-0.42] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1127	chr10	71099887	71099888	rs10159477	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	10q22.1	HK1	rs10159477-A	0.16	4E-20	(EA, Hgb)	0.087	[0.067-0.107] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1127	chr10	71099912	71099913	rs7072268	19096518	Pare G	2008-12-19	PLoS Genet	Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.	Glycated hemoglobin levels	14,618 European ancestry females	455 European ancestry individuals	10q22.1	HK1	rs7072268-A	0.50	2E-25		0.05	[NR] % increase	Illumina [337343]	N
1128	chr10	71245275	71245276	rs78707713	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls	10q22.1	TSPAN15	rs78707713-T	0.878	2E-16		1.31	[1.23-1.40]	Affymetrix, Illumina [6751884] (imputed)	N
1128	chr10	71263263	71263264	rs1227969	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	10q22.1	TSPAN15	rs1227969-?	NR	6E-7				Affymetrix, Illumina [~ 1300000]	N
1129	chr10	71375788	71375789	rs4553261	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	10q22.1	intergenic	rs4553261-?		9E-6				Affymetrix, Illumina [1348798]	N
1130	chr10	71452284	71452285	rs2812533	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	10q22.1	C10orf35	rs2812533-C		5E-6		1.07	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
1130	chr10	71538291	71538292	rs4746003	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	10q22.1	RP11-242G20.2	rs4746003-?	0.25	6E-6		1.3	[NR]	Illumina [1847262] (imputed)	N
1130	chr10	71543167	71543168	rs2642575	25082827	Julia A	2014-07-31	Hum Mol Genet	A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.	Ulcerative colitis	up to 7,483 European ancestry cases, up to 21,211 European ancestry controls	1,073 European ancestry cases, 1,279 European ancestry controls	10q22.1	COL13A1	rs2642575-?	NR	5E-6	(Southern European)	1.11	[NR]	Illumina [546271]	N
1131	chr10	71580119	71580120	rs17497526	23793441	Davis MF	2013-06-21	Hum Genet	Parkinson disease loci in the mid-western Amish.	Parkinson's disease	31 Amish cases, 767 Amish controls	NA	10q22.1	COL13A1	rs17497526-G	0.15	6E-7				Affymetrix [622812]	N
1131	chr10	71583197	71583198	rs7077164	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	10q22.1	COL13A1	rs7077164-A	0.30	7E-6		0.67	[NR] unit increase	Illumina [324623]	N
1131	chr10	71588503	71588504	rs1227756	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	10q22.1	COL13A1	rs1227756-G	0.46	2E-7		0.57	[NR] unit increase	Illumina [324623]	N
1131	chr10	71640837	71640838	rs77040403	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10q22.1	NR	rs77040403-?	NR	4E-6	(Native Hawaiian)	0.7427	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1131	chr10	71689644	71689645	rs2763339	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Early childhood aggressive behavior	15,668 European ancestry individuals	NA	10q22.1	COL13A1	rs2763339-T	0.36	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
1132	chr10	71704750	71704751	rs3843585	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Middle childhood and early adolescence aggressive behavior	16,311 European ancestry individuals	NA	10q22.1	COL13A1	rs3843585-T	0.6189	3E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
1132	chr10	71749674	71749675	rs113808744	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10q22.1	NR	rs113808744-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1134	chr10	72040804	72040805	rs41322152	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	10q22.1	NPFFR1	rs41322152-C	0.012	8E-6		2.52	[1.68-3.79]	Affymetrix [444044]	N
1135	chr10	72114377	72114378	rs4747011	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		10q22.1	LRRC20	rs4747011-?	NR	9E-10	(Strength - L-transverse temporal)			Illumina [428287]	N
1136	chr10	72332439	72332440	rs10999409	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	10q22.1	PRF1	rs10999409-T	0.45	5E-6		1.3	[1.16-1.45]	Illumina [457251]	N
1137	chr10	72462993	72462994	rs17600642	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	10q22.1	NR	rs17600642-?	NR	5E-6	(addtive)			Affymetrix [NR]	N
1138	chr10	72483009	72483010	rs1816002	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Weight	Up to 3,925 European individuals	NA	10q22.1	NR	rs1816002-G	0.46	8E-6	(females)	2.08	[NR] kg increase	Illumina [318237]	N
1138	chr10	72500762	72500763	rs10823607	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep duration	2,278 European ancestry individuals	NA	10q22.1	ADAMTS14	rs10823607-T	0.15	5E-6		0.19	[0.11-0.27] unit decrease	Illumina [2380486] (imputed)	N
1138	chr10	72517836	72517837	rs6480463	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide behavior	577 European ancestry cases, 1,233 European ancestry controls	NA	10q22.1	ADAMTS14	rs6480463-G	0.38	2E-6		1.415	[1.227-1.631]	Illumina [794207]	N
1138	chr10	72527516	72527517	rs12761224	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	10q22.1	NR	rs12761224-?	NR	6E-6		1.3861	[NR]	Illumina [NR] (imputed)	N
1139	chr10	72688370	72688371	rs1466576	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q22.1	PCBD1	rs1466576-G	0.472	8E-6	(Total glutathione )	0.03	[NR] umol/L increase	Illumina [899892]	N
1140	chr10	72767408	72767409	rs10509328	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		10q22.1	NR	rs10509328-G	0.09	1E-6	(non t11;14 and t4;14 IgH translocations vs. controls)	1.86	[1.45-2.39]	Illumina [414804] (imputed)	N
1140	chr10	72795876	72795877	rs1891159	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q22.1	PCBD1	rs1891159-A	0.491	3E-6	(INS )	0.04	[NR] uU/mL increase	Illumina [899892]	N
1141	chr10	72982984	72982985	rs16928529	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	10q22.1	UNC5B	rs16928529-?	NR	4E-6				Affymetrix [504219]	N
1142	chr10	73095792	73095793	rs16928705	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10q22.1	SLC29A3, UNC5B, CDH23	rs16928705-A	0.084	7E-6		2.67	[1.71-4.15]	Illumina [1556551]	N
1142	chr10	73115941	73115942	rs2252996	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	10q22.1	SLC29A3	rs2252996-A	0.68	3E-6		1.2195		Illumina [2100739] (imputed)	N
1142	chr10	73121944	73121945	rs1084004	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q22.1	SLC29A3	rs1084004-A	0.377	8E-7	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
1142	chr10	73121944	73121945	rs1084004	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q22.1	PCBD1, SLC29A3	rs1084004-A	0.377	2E-6	(HOMA-IR)	0.03	[NR] unit increase	Illumina [899892]	N
1142	chr10	73135918	73135919	rs1417210	22951725	Tang XF	2012-09-06	J Invest Dermatol	Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.	Vitiligo	1,117 Han Chinese ancestry cases, 1,701 Han Chinese ancestry controls	5,740 Han Chinese ancestry cases, 10,324 Han Chinese ancestry controls	10q22.1	SLC29A3, CDH23, UNC5B	rs1417210-?	0.31	2E-8		1.14	[1.09-1.19]	Illumina [493909]	N
1144	chr10	73309528	73309529	rs875860	25493955	Gorski M	2014-12-10	Kidney Int	Genome-wide association study of kidney function decline in individuals of European descent.	Kidney function decline traits	up to 45,530 European ancestry individuals	up to 18,028 European ancestry individuals	10q22.1	CDH23	rs875860-T	0.12	5E-6	(eGFRchange CKD)	0.31	[NR] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1145	chr10	73422283	73422284	rs1625975	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	10q22.1	CDH23	rs1625975-?	NR	3E-6				NR [up to 8466825] (imputed)	N
1145	chr10	73527046	73527047	rs1867982	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	10q22.1	intergenic	rs1867982-?	NR	6E-6	(FEV1/FVC decline in non-asthmatics)	0.2018	[0.11-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
1145	chr10	73527046	73527047	rs1867982	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	10q22.1	CDH23	rs1867982-A	0.11	9E-6		0.058	unit increase	Illumina [~ 6300000] (imputed)	N
1146	chr10	73591529	73591530	rs11000019	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	10q22.1	PSAP	rs11000019-?	NR	8E-8				Affymetrix [786195]	N
1147	chr10	73723955	73723956	rs76409888	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10q22.1	NR	rs76409888-?	NR	1E-7	(Latino)	1.7704	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1147	chr10	73778266	73778267	rs1245582	24216480	Song YQ	2013-10-08	J Clin Invest	Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.	Disc degeneration (lumbar)	366 Japanese ancestry cases, 3,331 Japanese ancestry controls	1,628 East Asian ancestry cases, 17,469 East Asian ancestry controls, 399 European ancestry cases, 5,035 European ancestry control	10q22.1	CHST3	rs1245582-?	0.44	4E-8		1.2	[1.13-1.29]	Illumina [464775]	N
1147	chr10	73778266	73778267	rs1245582	24216480	Song YQ	2013-10-08	J Clin Invest	Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.	Disc degeneration (lumbar)	366 Japanese ancestry cases, 3,331 Japanese ancestry controls	1,628 East Asian ancestry cases, 17,469 East Asian ancestry controls, 399 European ancestry cases, 5,035 European ancestry control	10q22.1	CHST3	rs1245582-?	0.44	1E-6	(East Asians)			Illumina [464775]	N
1148	chr10	73806287	73806288	rs1678618	22832964	David SP	2012-05-22	Transl Psychiatry	Genome-wide meta-analyses of smoking behaviors in African Americans.	Smoking behavior	Up to 32,389 African American individuals	NA	10q22.1	SPOCK2	rs1678618-A	0.74	8E-7	(AOI)	0.06	[0.036-0.084] unit decrease	Affymetrix, Illumina [~ 2900000] (imputed)	N
1148	chr10	73849638	73849639	rs1245541	21216879	Kaplan RC	2011-01-07	Hum Mol Genet	A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.	Insulin-like growth factors	10,280 European ancestry individuals	NA	10q22.1	SPOCK2	rs1245541-G	0.61	5E-7	(IGF-I)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1149	chr10	74036428	74036429	rs4747241	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	10q22.1	DDIT4	rs4747241-T	0.38	7E-6	(Left HG area)	11.94	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1160	chr10	75421207	75421208	rs10824026	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	10q22.2	SYNPO2L	rs10824026-A	0.84	4E-9		1.15	[1.10-1.20]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1161	chr10	75599126	75599127	rs2675662	25939698	Tsoi LC	2015-05-05	Nat Commun	Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.	Psoriasis	3,994 European ancestry cases, 7,699 European ancestry controls	6,268 European ancestry cases,  14,172 European ancestry controls, 5,033 cases, 5,707 controls	10q22.2	CAMK2G	rs2675662-A	0.56	2E-14		1.12	[NR]	Illumina [696365] (imputed)	N
1162	chr10	75658348	75658349	rs2688608	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q22.2	NR	rs2688608-?	NR	3E-10	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1162	chr10	75669189	75669190	rs2227551	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q22.2	NR	rs2227551-C	0.73	5E-13	(EA)	1.1045585		Affymetrix, Illumina [~ 9000000] (imputed)	N
1162	chr10	75673100	75673101	rs2227564	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10q22.2	intergenic	rs2227564-C	0.77	7E-10		1.082	[1.048-1.118]	Affymetrix, Illumina [1230000] (imputed)	N
1164	chr10	75952669	75952670	rs12220238	26293465	Durda P	2015-08-20	Arterioscler Thromb Vasc Biol	Plasma Levels of Soluble Interleukin-2 Receptor ?: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan.	Soluble interleukin-2 receptor subunit alpha	2,964 European ancestry individuals, 683 African American individuals	4,464 European ancestry individuals	10q22.2	ADK	rs12220238-?		8E-6	(AA)			Illumina [2200000] (imputed)	N
1167	chr10	76295788	76295789	rs7924176	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		10q22.2	ADK, VCL, AP3M1	rs7924176-A	NR	2E-8		0.167	[0.11-0.22] unit decrease	Illumina [2446724] (imputed)	N
1167	chr10	76295788	76295789	rs7924176	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		10q22.2	ADK, VCL, AP3M1	rs7924176-A	NR	8E-16		0.193	[0.15-0.24] unit increase	Illumina [2446724] (imputed)	N
1167	chr10	76295788	76295789	rs7924176	21931568	Geller F	2011-09-08	PLoS Genet	Genome-wide association study identifies four loci associated with eruption of permanent teeth.	Permanent tooth development	5,088 European ancestry females	2,994 European ancestry individuals, 161 individuals	10q22.2	ADK	rs7924176-G	0.43	6E-18		0.105	[0.08-0.13] unit decrease	Illumina [521741]	N
1167	chr10	76400163	76400164	rs17747401	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	10q22.2	ADK	rs17747401-T	0.378	1E-7		1.2	[NR]	Illumina [8207076] (imputed)	N
1170	chr10	76703005	76703006	rs10466033	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	10q22.2	COMTD1, SPA17P1	rs10466033-G	0.0080	6E-6		0.437	[0.25-0.63] cup size increase	Illumina [7422970] (imputed)	N
1171	chr10	76808759	76808760	rs7919006	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Weight	Up to 3,925 European individuals	NA	10q22.2	NR	rs7919006-G	0.95	4E-6	(females)	4.0	[NR] kg decrease	Illumina [318237]	N
1171	chr10	76822116	76822117	rs10762651	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	10q22.2	DUPD1	rs10762651-?		6E-6	(AA, case-control analysis)	1.85	[NR]	Affymetrix [up to 730090]	N
1174	chr10	77298608	77298609	rs2043090	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	10q22.2	intergenic	rs2043090-A	0.959	3E-6		0.119	[0.068-0.17] unit decrease	Illumina [6150213] (imputed)	N
1175	chr10	77448434	77448435	rs7899719	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (total eye scanning length)	128 Han Chinese ancestry cases	NA	10q22.2	NR	rs7899719-?		1E-6		83.24	[43.2-123.28] unit increase	Illumina [498648]	N
1179	chr10	77911031	77911032	rs10740455	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	10q22.3	C10orf11	rs10740455-A	0.08	7E-6			[NR]	Affymetrix [398699]	N
1181	chr10	78157571	78157572	rs10509373	22180457	Kiyotani K	2011-12-16	Hum Mol Genet	A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese.	Response to tamoxifen in breast cancer	240 Japanese ancestry female cases	222 Japanese ancestry female cases	10q22.3	C10orf11	rs10509373-C	0.024	6E-9		4.51	[2.72-7.51]	Illumina [470796]	N
1182	chr10	78315223	78315224	rs11001819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	10q22.3	C10orf11	rs11001819-?	NR	5E-8	(FEV1, Ever-smoking)			NR [~ 2500000] (imputed)	N
1182	chr10	78315223	78315224	rs11001819	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	10q22.3	C10orf11	rs11001819-G	0.52	3E-12	(FEV1)	0.029	[0.021-0.037] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1182	chr10	78331317	78331318	rs2637266	23932459	Yao TC	2013-08-06	J Allergy Clin Immunol	Genome-wide association study of lung function phenotypes in a founder population.	Pulmonary function	1,144 Hutterite individuals	NA	10q22.3	C10orf11	rs2637266-?	NR	2E-6	(FEV1/FVC)			Affymetrix [246010]	N
1185	chr10	78646535	78646536	rs2116830	21708048	Jiao H	2011-06-28	BMC Med Genomics	Genome wide association study identifies KCNMA1 contributing to human obesity.	Obesity	164 European ancestry morbidly obese  individuals, 163 European ancestry lean individuals	4,674 European ancestry morbidly obese individuals, 5,663 European ancestry lean individuals	10q22.3	KCNMA1	rs2116830-G	0.80	3E-10		1.26	[1.12-1.41]	Affymetrix [406177]	N
1185	chr10	78695466	78695467	rs10762738	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	10q22.3	KCNMA1	rs10762738-G	0.497	2E-10		1.24	[NR]	Illumina [8207076] (imputed)	N
1189	chr10	79211261	79211262	rs603788	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	10q22.3	KCNMA1	rs603788-G	0.5	9E-7	(EA, MAP, Age 70-79)	2.08	[1.26-2.9] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1189	chr10	79211261	79211262	rs603788	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	10q22.3	KCNMA1	rs603788-G	0.5	9E-7	(EA, DBP, Age 70-79)	1.73	[1.04-2.42] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1189	chr10	79253260	79253261	rs3127447	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	10q22.3	KCNMA1	rs3127447-A	0.529	6E-6		0.02	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1190	chr10	79401315	79401316	rs7071206	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	10q22.3	KCNMA1	rs7071206-T	0.78	5E-19	(LSBMD)	0.06	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1191	chr10	79444752	79444753	rs4979906	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	10q22.3	KCNMA1	rs4979906-G	0.186	7E-6	(EA)	1.23	[0.98-1.55]	Affymetrix [up to 2366858] (imputed)	N
1191	chr10	79540834	79540835	rs12261589	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q22.3	DLG5	rs12261589-A	0.012	4E-6	(Sedentary activity )	0.04	[NR] %awake time increase	Illumina [899892]	N
1192	chr10	79680433	79680434	rs754466	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	10q22.3	DLG5	rs754466-T	0.24	6E-10		3.5	[2.20-4.80] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1196	chr10	80100860	80100861	rs2395528	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	10q22.3	intergenic	rs2395528-T	0.23	6E-6	(int, MW)	1.46	[NR] unit decrease	Perlegen [429901]	N
1199	chr10	80515080	80515081	rs7900239	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10q22.3	intergenic	rs7900239-A	0.1	9E-6		1.09	[1.05-1.13]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1201	chr10	80819131	80819132	rs704017	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	10q22.3	AS1, ZMIZ1	rs704017-G	0.32	2E-8	(East Asian)	1.1	[1.06-1.13]	Affymetrix, Illumina [2400000] (imputed)	N
1201	chr10	80841147	80841148	rs704010	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	10q22.3	ZMIZ1	rs704010-T	0.38	7E-22		1.08	[1.06-1.10]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1201	chr10	80841147	80841148	rs704010	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	10q22.3	ZMIZ1	rs704010-A	0.39	4E-9		1.07	[1.03-1.11]	Illumina [582886]	N
1202	chr10	80918516	80918517	rs779933	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	10q22.3	ZMIZ1	rs779933-A	0.25	8E-8		0.032	[0.018-0.046] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1202	chr10	80925576	80925577	rs7916441	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	10q22.3	NR	rs7916441-G	0.576	2E-7	(EA)	0.051	[0.031-0.071] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1202	chr10	80925576	80925577	rs7916441	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	10q22.3	PPIF	rs7916441-?	NR	6E-10	(Conditioned on rs2145998)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1202	chr10	80928792	80928793	rs1815314	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	10q22.3	ZMIZ1	rs1815314-A	0.422	5E-14		0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1202	chr10	80931480	80931481	rs780151	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	10q22.3	ZMIZ1	rs780151-G	0.57	2E-9		1.13	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1202	chr10	80942630	80942631	rs12571751	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	10q22.3	ZMIZ1	rs12571751-A	0.51	2E-10		1.09	[1.06-1.13]	Affymetrix, Illumina [2500000] (imputed)	N
1202	chr10	80953135	80953136	rs703970	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	10q22.3	ZMIZ1	rs703970-C	NR	5E-6	(5 degree of freedom test)	1.01	[0.99-1.03]	NR [1252901] (imputed)	N
1202	chr10	80955066	80955067	rs703965	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	10q22.3	NR	rs703965-?	0.54	8E-6		1.15	[NR]	Affymetrix [1769948] (imputed)	N
1202	chr10	80959972	80959973	rs10128264	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	10q22.3	ZMIZ1	rs10128264-C	NR	1E-6	(ParVAS)	1.18	[0.71-1.65] unit decrease	Illumina [586062]	N
1202	chr10	80960827	80960828	rs2802369	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	10q22.3	ZMIZ1	rs2802369-C	NR	7E-6	(ESR)	9.37	[5.33-13.41] unit decrease	Illumina [586062]	N
1203	chr10	81015895	81015896	rs11593576	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	10q22.3	ZMIZ1	rs11593576-?	0.805	8E-7		1.14	[1.09-1.20]	Illumina [493909]	N
1203	chr10	81032531	81032532	rs1250546	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q22.3	NR	rs1250546-G	0.58	3E-19	(EA)	1.1170506		Affymetrix, Illumina [~ 9000000] (imputed)	N
1203	chr10	81032531	81032532	rs1250546	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10q22.3	intergenic	rs1250546-A	0.604	3E-18		1.096	[1.065-1.128]	Affymetrix, Illumina [1230000] (imputed)	N
1203	chr10	81032884	81032885	rs1250544	22482804	Ellinghaus D	2012-04-06	Am J Hum Genet	Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.	Crohn's disease and psoriasis	2,529 European ancestry psoriasis cases, 2,142 European ancestry Crohn's disease cases, 10,460 European ancestry controls	Up to 3,187 European ancestry psoriasis cases, 4,073 European ancestry Crohn's disease cases, 10,100 European ancestry controls	10q22.3	ZMIZ1	rs1250544-G	NR	7E-14	(same-effect analysis)	1.16	[NR]	Affymetrix, Illumina, Perlegen [1116213] (imputed)	N
1203	chr10	81034669	81034670	rs1250542	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	10q22.3	ZMIZ1	rs1250542-A	0.37	4E-7		1.15	[NR]	Affymetrix, Illumina [2529394]	N
1203	chr10	81036006	81036007	rs1250540	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	10q22.3	ZMIZ1	rs1250540-G	0.35	2E-6		1.12	[1.02-1.22]	Affymetrix, Illumina [~ 2560000] (imputed)	N
1203	chr10	81046452	81046453	rs1250566	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q22.3	NR	rs1250566-?	NR	5E-20	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1203	chr10	81055625	81055626	rs12355688	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	10q22.3		rs12355688-T	0.22	6E-6		1.24	[1.13-1.36]	Illumina [1006480]	N
1203	chr10	81058026	81058027	rs1250552	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	10q22.3	ZMIZ1	rs1250552-?	0.53	9E-10		1.12	[1.09-1.16]	Illumina [292387]	N
1203	chr10	81060316	81060317	rs1250550	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	10q22.3	ZMIZ1	rs1250550-A	NR	6E-9		1.1	[1.09-1.12]	Illumina [465434]	N
1203	chr10	81060316	81060317	rs1250550	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	10q22.3	ZMIZ1	rs1250550-G	0.669	1E-30		1.19	[1.15-1.23]	Affymetrix, Illumina [953241] (imputed)	N
1203	chr10	81060316	81060317	rs1250550	19915574	Imielinski M	2009-11-15	Nat Genet	Common variants at five new loci associated with early-onset inflammatory bowel disease.	Inflammatory bowel disease (early onset)	2,413 European ancestry cases, 6,158 European ancestry controls	1,013 European ancestry cases, 5,805 European ancestry controls	10q22.3	ZMIZ1	rs1250550-?	0.68	6E-9		1.16	[1.09-1.25]	Illumina [~ 500000]	N
1203	chr10	81121695	81121696	rs2145998	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	10q22.3	PPIF	rs2145998-A	0.49	4E-13		0.026	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1203	chr10	81132828	81132829	rs1923367	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	10q22.3	ZCCHC24	rs1923367-C	0.48	5E-24		0.03	[0.024-0.036] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1204	chr10	81139461	81139462	rs941873	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	10q22.3	intergenic	rs941873-A	0.41	4E-7		0.044	[0.026-0.062] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1204	chr10	81185313	81185314	rs181715218	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	10q22.3	NR	rs181715218-T	0.996	3E-6		1.3	[0.76-1.84] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1204	chr10	81194218	81194219	rs4980079	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	10q22.3	ZCCHC24	rs4980079-T	0.45	5E-6		1.46	[1.30-1.62]	Illumina [2292247] (imputed)	N
1208	chr10	81694949	81694950	rs1923539	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	10q22.3	RP11-479O17.4	rs1923539-A	0.25	5E-9	(SP-D)			Illumina [588352]	N
1208	chr10	81705432	81705433	rs7078012	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	10q22.3	SFTPD	rs7078012-T	0.13	5E-9	(SP-D)			Illumina [588352]	N
1208	chr10	81706972	81706973	rs726288	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	10q22.3	SFTPD	rs726288-T	0.18	9E-9	(East Asian)	1.22	[1.14-1.31]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1208	chr10	81735980	81735981	rs3923564	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	10q22.3	SFTPD	rs3923564-G	0.04	2E-27	(SP-D)			Illumina [588352]	N
1208	chr10	81788103	81788104	rs12220777	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	10q22.3	RP11-369J21.6, RP11-369J21.5	rs12220777-C	0.08	7E-11	(SP-D)			Illumina [588352]	N
1209	chr10	81847913	81847914	rs728616	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	10q22.3	RP11-369J21.2	rs728616-T	0.08	2E-12	(SP-D)			Illumina [588352]	N
1209	chr10	81882369	81882370	rs3851050	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	10q22.3	RP11-369J21.4	rs3851050-C	0.41	1E-11	(SP-D)			Illumina [588352]	N
1209	chr10	81911724	81911725	rs1953600	22936702	Hofmann S	2012-08-30	Eur Respir J	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.	Sarcoidosis	637 European ancestry cases, 1,233 European ancestry controls	3,121 European ancestry cases, 4,284 European ancestry controls	10q22.3	ANXA11	rs1953600-?	NR	1E-6	(Chronic)			Affymetrix [677619]	N
1210	chr10	81933747	81933748	rs6585424	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	10q22.3	ANXA11	rs6585424-G	0.13	1E-10	(SP-D)			Illumina [588352]	N
1212	chr10	82250830	82250831	rs7097656	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q23.1	NR	rs7097656-G	0.8	1E-15	(EA)	1.1044418		Affymetrix, Illumina [~ 9000000] (imputed)	N
1212	chr10	82250830	82250831	rs7097656	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q23.1	NR	rs7097656-A	0.8	4E-18	(EA)	1.1411755		Affymetrix, Illumina [~ 9000000] (imputed)	N
1212	chr10	82254046	82254047	rs6586030	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10q23.1	TSPAN14, C10orf58	rs6586030-G	0.847	9E-16		1.115	[1.076-1.156]	Affymetrix, Illumina [1230000] (imputed)	N
1213	chr10	82377589	82377590	rs6586111	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	10q23.1	SH2D4B	rs6586111-?	NR	7E-6				NR [~ 2000000]	N
1213	chr10	82388982	82388983	rs59616746	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	10q23.1	SH2D4B	rs59616746-C	0.85	1E-6		1.2987013	[1.18-1.45]	NR [NR]	N
1214	chr10	82568683	82568684	rs10882097	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	10q23.1	LOC642666	rs10882097-?	NR	2E-6		1.228	[0.74-1.71] unit decrease	Illumina [498648]	N
1215	chr10	82699490	82699491	rs1484170	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	10q23.1	NRG3	rs1484170-?	NR	1E-6	(additive)			Affymetrix [361034]	N
1219	chr10	83153245	83153246	rs588517	20009918	Shrestha S	2010-01-01	AIDS	A genome-wide association study of carotid atherosclerosis in HIV-infected men.	Carotid atherosclerosis in HIV infection	177 European ancestry individuals	NA	10q23.1	intergenic	rs588517-A	0.15	8E-6	(internal cIMT)			Illumina [311194]	N
1219	chr10	83188952	83188953	rs1329201	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	10q23.1	NRG3	rs1329201-T	0.34	8E-6		0.22	[0.12-0.32] unit decrease	Illumina [2675979] (imputed)	N
1222	chr10	83566685	83566686	rs9787485	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	10q23.1	LOC727960, NRG3	rs9787485-T	0.149	4E-8	(Carbohydrate)			Affymetrix [590000]	N
1222	chr10	83566685	83566686	rs9787485	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	10q23.1	LOC727960, NRG3	rs9787485-T	0.149	5E-8	(Carbohydrate)			Affymetrix [590000]	N
1224	chr10	83819124	83819125	rs4933824	18521091	Volpi S	2008-06-03	Mol Psychiatry	Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.	Response to iloperidone treatment (QT prolongation)	91 African American Schizophrenia cases, 69 European ancestry Schizophrenia cases, 16 Asian ancestry Schizophrenia cases, 7 Schizophrenia cases	NA	10q23.1	NRG3	rs4933824-T	NR	2E-6				Affymetrix [339272]	N
1229	chr10	84419409	84419410	rs2219937	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q23.1	NR	rs2219937-G	0.984667459331848	4E-6	(IGP24)	0.7496	[0.43-1.07] unit increase	Illumina [~ 2500000] (imputed)	N
1232	chr10	84870075	84870076	rs7915137	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q23.1	NRG3	rs7915137-G	0.333	7E-6	(Methionine )	0.03	[NR] umol/L increase	Illumina [899892]	N
1234	chr10	85105608	85105609	rs7914606	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	10q23.1	NR	rs7914606-T	0.9392	4E-6	(Trans/cis-18:2, EA)	0.0077	[0.0044-0.011] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1235	chr10	85253680	85253681	rs1414874	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	10q23.1	intergenic	rs1414874-A	0.0573	9E-6		0.1121	[0.063-0.161] unit increase	Illumina [2400000] (imputed)	N
1236	chr10	85422853	85422854	rs2224865	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	10q23.1	NR	rs2224865-G	0.31	9E-6		1.44	[1.15-1.79]	Illumina [~ 550000]	N
1245	chr10	86588901	86588902	rs11201253	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q23.1	RPS3AP5	rs11201253-A	0.162	6E-6	(TSH )	0.02	[NR] uIU/mL increase	Illumina [899892]	N
1246	chr10	86721180	86721181	rs12266096	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	10q23.1	NR	rs12266096-?		6E-6	(AA)			Illumina [up to 524000]	N
1248	chr10	86953326	86953327	rs12098564	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		10q23.1	GRID1	rs12098564-A	NR	4E-7		0.435	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1251	chr10	87410903	87410904	rs7899106	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q23.1	GRID1	rs7899106-G	0.057	1E-8		0.038	[0.025-0.051] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1251	chr10	87410903	87410904	rs7899106	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q23.1	GRID1	rs7899106-G	0.053	2E-6	(EA, women)	0.044	[0.026-0.062] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1251	chr10	87410903	87410904	rs7899106	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q23.1	GRID1	rs7899106-G	0.052	3E-8	(EA)	0.04	[0.026-0.053] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1252	chr10	87485416	87485417	rs10159528	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10q23.1	NR	rs10159528-?	NR	8E-6	(AA)	0.3793	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1253	chr10	87608459	87608460	rs7076096	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	10q23.1	GRIN1	rs7076096-?	NR	5E-6	(Trauma exposed controls; AA)			Illumina [up to 871502]	N
1253	chr10	87634923	87634924	rs1970525	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	10q23.1	GRID1, MI346, WAPAL	rs1970525-G	0.054	4E-6	(A. actino)	2.89	[1.85-4.52]	Affymetrix [~ 2500000] (imputed)	N
1254	chr10	87694291	87694292	rs76765968	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	10q23.1	GRID1	rs76765968-T	0.856	2E-6		0.064	[0.037-0.091] unit decrease	Illumina [6150213] (imputed)	N
1254	chr10	87740752	87740753	rs10788473	23180869	Wu C	2012-11-24	Gut	Genome-wide association study of survival in patients with pancreatic adenocarcinoma.	Pancreatic cancer	642 European ancestry cases	363 Chinese ancestry cases	10q23.1	GRID1	rs10788473-T	0.38	3E-6		1.27	[1.15-1.41]	Illumina [2731086] (imputed)	N
1255	chr10	87846958	87846959	rs7910620	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Cardiac structure and function	12,612 European ancestry individuals	4,094 European ancestry individuals	10q23.1	GRID1	rs7910620-G	0.01	7E-7	(LV wall thickness)	0.17	[0.11-0.23] cm increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1257	chr10	88112938	88112939	rs1863824	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q23.2	NR	rs1863824-G	NR	5E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1257	chr10	88116478	88116479	rs7904985	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Barrett's esophagus	2,416 European ancestry cases, 3,206 European ancestry controls	759 European ancestry cases, 6,911 European ancestry controls	10q23.2	NR	rs7904985-T	0.29	6E-6		1.17	[1.10-1.26]	Illumina [922031]	N
1257	chr10	88162237	88162238	rs10458771	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	10q23.2	WAPAL	rs10458771-?		3E-6				Illumina [859311]	N
1258	chr10	88216401	88216402	rs7075426	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	10q23.2	intergenic	rs7075426-A	0.47	6E-7		1.11	[1.06-1.15]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1266	chr10	89338632	89338633	rs9664222	20304771	Newman AB	2010-03-18	J Gerontol A Biol Sci Med Sci	A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Longevity	1,836 European ancestry long-lived individuals, 1,955 European ancestry controls	2,594 European ancestry long-lived individuals, 3,431 European ancestry controls	10q23.2	MINPP1	rs9664222-C	0.79	7E-7		1.22	[NR]	Affymetrix, Illumina [2287520] (imputed)	N
1267	chr10	89412574	89412575	rs791888	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	10q23.2	NR	rs791888-T	NR	4E-7		0.0243	[NR] mg/dl increase	Illumina [up to 509150]	N
1267	chr10	89412574	89412575	rs791888	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	10q23.2	NR	rs791888-T	NR	2E-6	(EA)	0.02742	(0.01614-0.03871) mg/dl increase	Illumina [up to 509150]	N
1267	chr10	89443309	89443310	rs10887741	19727025	De Moor MH	2009-09-02	Med Sci Sports Exerc	Genome-wide association study of exercise behavior in Dutch and American adults.	Exercise (leisure time)	2,622 European ancestry individuals	NA	10q23.2	PAPSS2	rs10887741-T	NR	4E-6		1.32	[1.17-1.49]	Affymetrix, Perlegen [~ 1600000] (imputed)	N
1269	chr10	89752210	89752211	rs149784093	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	10q23.31	PTEN	rs149784093-T	0.01	3E-6	(Age 20-60 years)	0.2236	[0.13-0.32] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1269	chr10	89768583	89768584	rs10788575	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	10q23.31	PTEN	rs10788575-A		9E-6		1.06	[1.03-1.08]	Affymetrix, Illumina [2500000] (imputed)	N
1271	chr10	90023032	90023033	rs10509540	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	10q23.31	C10orf59	rs10509540-?	0.71	1E-28		1.33	[1.25-1.43]	Affymetrix, Illumina [841622] (imputed)	N
1277	chr10	90727333	90727334	rs1926203	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	10q23.31	NR	rs1926203-?	NR	1E-6		1.12	[NR]	Illumina [511919]	N
1277	chr10	90749962	90749963	rs1800682	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	10q23.31	ACTA, FAS	rs1800682-A	0.54	2E-8		1.25	[NR]	Illumina [450000] (imputed)	N
1277	chr10	90759723	90759724	rs4406737	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	10q23.31	ACTA2, FAS	rs4406737-G	0.57	1E-14		1.27	[1.19-1.33]	Illumina [549934]	N
1277	chr10	90771828	90771829	rs2234978	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	10q23.31	ACTA2, FAS	rs2234978-A	0.31	6E-6		1.32	[1.16-1.50]	Illumina [2057134] (imputed)	N
1277	chr10	90818376	90818377	rs7920888	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q23.31	FAS	rs7920888-A	0.494	9E-6	(WC )	0.03	[NR] cm increase	Illumina [899892]	N
1277	chr10	90818376	90818377	rs7920888	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q23.31	FAS	rs7920888-A	0.494	7E-6	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1277	chr10	90818376	90818377	rs7920888	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q23.31	FAS	rs7920888-A	0.494	7E-6	(Hip circumference )	0.03	[NR] cm increase	Illumina [899892]	N
1277	chr10	90818376	90818377	rs7920888	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q23.31	FAS	rs7920888-A	0.494	5E-6	(BMI z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1277	chr10	90826778	90826779	rs1937332	21041692	Denny JC	2010-11-01	Circulation	Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.	Atrioventricular conduction	2,334 European ancestry individuals	NA	10q23.31	CH25H, FAS	rs1937332-G	0.47	7E-7		2.6	[1.58-3.62] ms increase	Illumina [514999]	N
1279	chr10	90964613	90964614	rs11203032	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	10q23.31	CH25H	rs11203032-?	0.10	8E-6	(EA)	1.22	[0.97-1.53]	Affymetrix, Illumina [2478304] (imputed)	N
1279	chr10	91002926	91002927	rs1412444	21606135	Wild PS	2011-05-23	Circ Cardiovasc Genet	A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.	Coronary heart disease	2,078 European ancestry cases, 2,953 European ancestry controls	19,350 European ancestry cases, 35,408 European ancestry controls	10q23.31	LIPA	rs1412444-T	0.32	4E-8		1.1	[1.07-1.14]	Affymetrix [608247]	N
1279	chr10	91002926	91002927	rs1412444	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	10q23.31	LIPA	rs1412444-T	0.42	3E-13		1.09	[1.07-1.12]	Illumina [574919]	N
1282	chr10	91372532	91372533	rs11185790	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	10q23.31	PANK1	rs11185790-A	0.21	3E-7	(INS)	0.31	[0.18-0.44] mmol/l decrease	Illumina [329091]	N
1284	chr10	91741436	91741437	rs10509586	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	10q23.31	KIF20B	rs10509586-?		4E-7	(EA)	9.3	[NR]	Illumina [936149]	N
1286	chr10	91962669	91962670	rs2250245	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	10q23.31	intergenic	rs2250245-G	NR	2E-6		0.112	[0.067-0.157] unit decrease	Illumina [628922]	N
1286	chr10	91963462	91963463	rs2250149	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	10q23.31	intergenic	rs2250149-T	NR	1E-6		0.114	[0.069-0.159] unit increase	Illumina [628922]	N
1288	chr10	92152199	92152200	rs58616815	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10q23.31	NR	rs58616815-?	NR	2E-6	(Japanese)	0.3566	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1291	chr10	92592955	92592956	rs12249377	24736177	Sprooten E	2014-04-13	Neuroimage	Common genetic variants and gene expression associated with white matter microstructure in the human brain.	White matter microstructure (global fractional anisotropy)	727 Mexican American individuals from 65 families, 49 Mexican American individuals	NA	10q23.31	HTR7	rs12249377-?		3E-10				Illumina [929187]	N
1291	chr10	92632898	92632899	rs4586057	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	10q23.31	RPP30	rs4586057-T	NR	5E-6		0.141	[0.080-0.202] unit increase	Illumina [628922]	N
1297	chr10	93348119	93348120	rs1329650	20418890	The Tobacco and Genetics Consortium	2010-04-25	Nat Genet	Genome-wide meta-analyses identify multiple loci associated with smoking behavior.	Smoking behavior	Up to 74,035 European ancestry individuals	Up to 68,988 participants	10q23.32	LOC100188947	rs1329650-T	0.28	6E-10	(CPD)	0.37	[0.25-0.49] CPD decrease	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
1303	chr10	94168796	94168797	rs2263638	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	10q23.33	IDE	rs2263638-?	0.63	3E-6	(Never smoker)	1.2821	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
1304	chr10	94347829	94347830	rs6583826	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	10q23.33	KIF11	rs6583826-G	0.26	7E-6	(Chinese+Malay+Indian)	1.18	[1.10-1.27]	Illumina [~ 2000000] (imputed)	N
1305	chr10	94436850	94436851	rs7911264	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10q23.33	intergenic	rs7911264-C	0.519	3E-8		1.066	[1.035-1.097]	Affymetrix, Illumina [1230000] (imputed)	N
1305	chr10	94462881	94462882	rs1111875	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	10q23.33	HHEX, IDE	rs1111875-C	0.58	3E-19		1.15	[1.11-1.19]	Affymetrix, Illumina [2500000] (imputed)	N
1305	chr10	94462881	94462882	rs1111875	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	10q23.33	HHEX	rs1111875-C	0.29	2E-8		1.14	[1.09-1.20]	Illumina [6209637] (imputed)	N
1305	chr10	94462881	94462882	rs1111875	19401414	Takeuchi F	2009-04-29	Diabetes	Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.	Type 2 diabetes	519 Japanese ancestry cases, 503 Japanese ancestry controls	5,110 Japanese ancestry cases, 6,867 Japanese ancestry controls	10q23.33	HHEX	rs1111875-C	0.28	7E-12		1.21	[1.15-1.28]	Illumina [482625]	N
1305	chr10	94462881	94462882	rs1111875	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	10q23.33	HHEX	rs1111875-C	0.52	6E-10	(DGI+FUSION+WTCCC)	1.13	[1.09-1.17]	Illumina [315635]	N
1305	chr10	94462881	94462882	rs1111875	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Type 2 diabetes	1,464 European ancestry cases, 1,467 European ancestry controls	5,065 European ancestry cases, 5,785 European ancestry controls	10q23.33	HHEX	rs1111875-C	0.53	6E-10	(DGI+FUSION+WTCCC)	1.13	[1.08-1.17]	Affymetrix [386731]	N
1305	chr10	94462881	94462882	rs1111875	17293876	Sladek R	2007-02-11	Nature	A genome-wide association study identifies novel risk loci for type 2 diabetes.	Type 2 diabetes	661 European ancestry cases, 614 European ancestry controls	2,617 European ancestry cases, 2,894 European ancestry controls	10q23.33	HHEX	rs1111875-G	0.60	3E-6		1.19	[0.82-1.56]	Illumina [392935]	N
1305	chr10	94464306	94464307	rs12778642	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q23.33	NR	rs12778642-A	0.4347	2E-6	(EA)	1.0610541	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1305	chr10	94465558	94465559	rs5015480	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	10q23.33	HHEX	rs5015480-C	0.57	2E-9	(Obese)	1.18	[1.11-1.23]	NR [NR]	N
1305	chr10	94465558	94465559	rs5015480	20862305	Shu XO	2010-09-16	PLoS Genet	Identification of new genetic risk variants for type 2 diabetes.	Type 2 diabetes	1,019 Chinese ancestry cases, 1,710 Chinese ancestry controls	2,591 European ancestry cases, 3,052 European ancestry controls, 6,184 East Asian cases, 9,853 East Asian controls	10q23.33	HHEX	rs5015480-C	0.17	9E-6		1.17	[1.11-1.24]	Affymetrix [590887]	N
1305	chr10	94465558	94465559	rs5015480	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	10q23.33	HHEX, IDE	rs5015480-C		1E-15		1.18	[1.13-1.23]	Affymetrix, Illumina [2426886] (imputed)	N
1305	chr10	94465558	94465559	rs5015480	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	10q23.33	HHEX	rs5015480-C	NR	7E-8		1.17	[1.11-1.24]	Affymetrix, Illumina [2202892] (imputed)	N
1305	chr10	94465558	94465559	rs5015480	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	10q23.33	HHEX	rs5015480-C	0.57	5E-6		1.13	[1.07-1.19]	Affymetrix [393453]	N
1305	chr10	94481916	94481917	rs7923837	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	10q23.33	HHEX	rs7923837-G	NR	5E-9		1.1	[1.08-1.11]	Illumina [465434]	N
1305	chr10	94485210	94485211	rs2497306	21533175	Zhai G	2011-04-14	PLoS Genet	Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.	Dehydroepiandrosterone sulphate levels	14,846 European ancestry individuals	NA	10q23.33	HHEX	rs2497306-C	0.49	5E-9		0.04	[0.02-0.06] umol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1305	chr10	94502243	94502244	rs11187157	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q23.33	NR	rs11187157-?	NR	2E-10	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1306	chr10	94564610	94564611	rs117582141	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10q23.33	NR	rs117582141-?	NR	1E-6	(AA)	1.4321	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1308	chr10	94839641	94839642	rs2068888	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	10q23.33	CYP26A1	rs2068888-A	0.45	2E-11		0.024	[NR] mg/dL decrease	NR [NR] (imputed)	N
1308	chr10	94839641	94839642	rs2068888	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	10q23.33	CYP26A1	rs2068888-A	0.47	2E-8		2.28	[1.54-3.02] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1309	chr10	94924323	94924324	rs10882165	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	10q23.33	CYP26A1	rs10882165-T	0.42	1E-11		0.107	[0.076-0.138] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1312	chr10	95348181	95348182	rs10882272	21878437	Mondul AM	2011-08-30	Hum Mol Genet	Genome-wide association study of circulating retinol levels.	Retinol levels	5,006 European ancestry individuals	1,124 European ancestry individuals, 3,764 individuals	10q23.33	RBP4	rs10882272-C	0.35	7E-15		0.03	[0.02-0.04] ug/L decrease	Illumina [562105]	N
1312	chr10	95392584	95392585	rs640090	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	10q23.33	NR	rs640090-C	0.0715	5E-7		0.55	[0.33-0.76] unit increase	Affymetrix, Illumina [2403520] (imputed)	N
1313	chr10	95477349	95477350	rs59824868	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	10q23.33	NR	rs59824868-A	NR	5E-6	(phenotype 3)	2.12	[NR]	Illumina [> 8000000] (imputed)	N
1316	chr10	95895176	95895177	rs9663362	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	10q23.33	PLCE-1	rs9663362-G	0.53	5E-9	(Pulse Pressure)	0.271	[0.18-0.36] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1316	chr10	95895939	95895940	rs932764	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	10q23.33	PLCE1	rs932764-G	0.44	7E-16		0.484	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1316	chr10	95895939	95895940	rs932764	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	10q23.33	PLCE1	rs932764-G	0.44	9E-9		0.055	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1316	chr10	95895939	95895940	rs932764	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	10q23.33	PLCE1	rs932764-G	0.44	8E-7		0.185	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1316	chr10	95906314	95906315	rs1223629	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	10q23.33	PLCE1	rs1223629-?		5E-6	(SI)	0.74	[0.41-1.07] unit decrease	Illumina [693128]	N
1316	chr10	95906314	95906315	rs1223629	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	10q23.33	PLCE1	rs1223629-?		3E-6	(SI+M)	0.74	[0.41-1.07] unit decrease	Illumina [693128]	N
1317	chr10	96013704	96013705	rs9419788	21368711	Alliey-Rodriguez N	2011-03-02	Psychiatr Genet	Genome-wide association study of personality traits in bipolar patients.	Personality traits in bipolar disorder	1,951 European ancestry cases	NA	10q23.33	PLCE1	rs9419788-?	0.354	4E-8	(TCI-ST1)			Affymetrix [702866]	N
1317	chr10	96035979	96035980	rs11187837	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	10q23.33	PLCE1	rs11187837-?	0.12	4E-7	(Recessive)	1.79	[1.43-2.24]	Affymetrix [319222]	N
1317	chr10	96036305	96036306	rs7072574	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	10q23.33	PLCE1	rs7072574-A	NR	1E-9		0.009	[0.0070-0.0110] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1317	chr10	96058297	96058298	rs3765524	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	10q23.33	PLCE1	rs3765524-?	0.70	3E-10		1.25	[1.16-1.33]	Illumina [481342]	N
1317	chr10	96058297	96058298	rs3765524	20729852	Abnet CC	2010-08-22	Nat Genet	A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.	Esophageal cancer and gastric cancer	1,625 Chinese ancestry gastric cancer cases, 1,898 Chinese ancestry ESCC cases, 2,100 Chinese ancestry controls	NA	10q23.33	PLCE1, NOC3L	rs3765524-T	0.207	2E-9	(ESCC)	1.35	[1.22-1.49]	Illumina [551152]	N
1317	chr10	96058635	96058636	rs117607728	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	10q23.33	PLCE1	rs117607728-T	0.02	4E-7		0.333	unit increase	Illumina [~ 6300000] (imputed)	N
1317	chr10	96066340	96066341	rs2274223	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	10q23.33	PLCE1, KIAA1516	rs2274223-G	0.209	4E-18		1.35	[1.26-1.45]	Affymetrix, Illumina [7556215] (imputed)	N
1317	chr10	96066340	96066341	rs2274223	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	10q23.33	PLCE1	rs2274223-G	0.21	4E-20		1.34	[1.26-1.42]	Affymetrix [666141]	N
1317	chr10	96070374	96070375	rs3781264	20729852	Abnet CC	2010-08-22	Nat Genet	A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.	Esophageal cancer and gastric cancer	1,625 Chinese ancestry gastric cancer cases, 1,898 Chinese ancestry ESCC cases, 2,100 Chinese ancestry controls	NA	10q23.33	PLCE1, NOC3L	rs3781264-C	0.15	4E-9	(Total gastric)	1.36	[1.23-1.50]	Illumina [551152]	N
1320	chr10	96405328	96405329	rs12772169	19578179	Teichert M	2009-07-04	Hum Mol Genet	A genome-wide association study of acenocoumarol maintenance dosage.	Acenocoumarol maintenance dosage	1,451 European ancestry individuals	287 individuals	10q23.33	CYP2C18	rs12772169-?	NR	8E-12				Illumina [~ 550000]	N
1320	chr10	96405501	96405502	rs12777823	23755828	Perera MA	2013-06-05	Lancet	Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.	Warfarin maintenance dose	533 African American individuals	432 African American individuals	10q23.33	CYP2C, CYP2C18, CYP2C9, CYP2C8, CYP2C19	rs12777823-?	NR	5E-12				Illumina [3044177] (imputed)	N
1320	chr10	96405501	96405502	rs12777823	19706858	Shuldiner AR	2009-08-26	JAMA	Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy.	Response to clopidogrel therapy	429 Amish individuals	140 European ancestry individuals, 83 African American individuals, 4 individuals	10q23.33	CYP2C18, CYP2C9, CYP2C8, CYP2C19	rs12777823-?	0.17	2E-13	(Amish)			Affymetrix [400230]	N
1321	chr10	96522364	96522365	rs4986894	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q23.33	CYP2C9	rs4986894-T	0.84	6E-12	(X-14473)	0.042	[0.03-0.054] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1321	chr10	96534262	96534263	rs6583954	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10q23.33	intergenic	rs6583954-T	0.14	4E-6		1.08	[1.04-1.11]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1321	chr10	96547462	96547463	rs12767583	19578179	Teichert M	2009-07-04	Hum Mol Genet	A genome-wide association study of acenocoumarol maintenance dosage.	Acenocoumarol maintenance dosage	1,451 European ancestry individuals	287 individuals	10q23.33	CYP2C19	rs12767583-?	NR	3E-7				Illumina [~ 550000]	N
1322	chr10	96665936	96665937	rs1853207	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q23.33	CYP2C9	rs1853207-T	0.06	1E-12	(X-11247)	0.109	[0.08-0.138] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1322	chr10	96681845	96681846	rs1074145	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	10q23.33	CYP2C9, CYP2C19	rs1074145-?	0.162	4E-9	(S-CT concentration)			Illumina [7537437] (imputed)	N
1322	chr10	96681845	96681846	rs1074145	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	10q23.33	CYP2C9, CYP2C19	rs1074145-?	0.162	2E-16	(S-DCT/S-CT ratio)			Illumina [7537437] (imputed)	N
1322	chr10	96702046	96702047	rs1799853	19300499	Takeuchi F	2009-03-20	PLoS Genet	A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.	Warfarin maintenance dose	1,053 European ancestry individuals	588 European ancestry individuals	10q23.33	CYP2C9	rs1799853-?	0.11	1E-31		0.54	[0.45-0.63] mg/week decrease	Illumina [325997]	N
1322	chr10	96707201	96707202	rs4086116	18535201	Cooper GM	2008-06-05	Blood	A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.	Warfarin maintenance dose	181 European ancestry individuals	374 European ancestry individuals	10q23.33	CYP2C9	rs4086116-?	NR	6E-12				Illumina [538629]	N
1323	chr10	96734338	96734339	rs10509680	20833655	Cha PC	2010-09-10	Hum Mol Genet	Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese.	Warfarin maintenance dose	807 Japanese ancestry low dose individuals, 701 Japanese ancestry high dose individuals	444 Japanese ancestry individuals	10q23.33	CYP2C9	rs10509680-?	NR	4E-7				Illumina [485227]	N
1323	chr10	96734675	96734676	rs1934963	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q23.33	CYP2C9	rs1934963-T	0.8	9E-65	(X-11787)	0.029	[0.025-0.033] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1323	chr10	96741052	96741053	rs1057910	19300499	Takeuchi F	2009-03-20	PLoS Genet	A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.	Warfarin maintenance dose	1,053 European ancestry individuals	588 European ancestry individuals	10q23.33	CYP2C9	rs1057910-?	0.07	3E-79		1.11	[1.00-1.22] mg/week decrease	Illumina [325997]	N
1323	chr10	96751269	96751270	rs2185570	21533175	Zhai G	2011-04-14	PLoS Genet	Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.	Dehydroepiandrosterone sulphate levels	14,846 European ancestry individuals	NA	10q23.33	CYP2C9	rs2185570-C	0.13	2E-8		0.06	[0.04-0.08] u mol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1323	chr10	96766933	96766934	rs2860975	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	10q23.33	CYP2C9	rs2860975-?		2E-7	(Hispanic)			Illumina [NR]	N
1323	chr10	96788560	96788561	rs1934955	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q23.33	CYP2C8	rs1934955-A	0.71	3E-16	(X-02249)	0.03	[0.022-0.038] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1323	chr10	96792201	96792202	rs1934954	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	10q23.33	CYP2C8	rs1934954-T	0.98	3E-6		7.1429	[NR]	Affymetrix [up to 4467279] (imputed)	N
1323	chr10	96797469	96797470	rs1934953	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	10q23.33	CYP2C8	rs1934953-?		5E-7	(Hispanic)			Illumina [NR]	N
1323	chr10	96798547	96798548	rs1934951	18594024	Sarasquete ME	2008-07-01	Blood	Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis.	Osteonecrosis of the jaw	22 European ancestry cases, 65 European ancestry controls	NA	10q23.33	CYP2C8	rs1934951-T	0.12	1E-6		12.75	[3.7-43.5]	Affymetrix [339972]	N
1323	chr10	96828322	96828323	rs2071426	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q23.33	CYP2C8	rs2071426-T	0.71	7E-14	(X-02269)	0.055	[0.041-0.069] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1323	chr10	96828322	96828323	rs2071426	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q23.33	CYP2C8	rs2071426-T	0.71	4E-14	(X-11469)	0.052	[0.038-0.066] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1323	chr10	96852689	96852690	rs72820627	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	10q23.33	intergenic	rs72820627-?	NR	7E-6	(SF8)			Affymetrix [5476100] (imputed)	N
1325	chr10	97122240	97122241	rs4918918	21041247	Perlis RH	2010-11-01	Am J Psychiatry	Genome-wide association study of suicide attempts in mood disorder patients.	Suicide risk	3,117 European ancestry Bipolar disorder cases, 1,273 European ancestry Major depressive disorder cases	2,698 European ancestry Bipolar disorder cases, 1,649 Major depressive disorder cases	10q24.1	PDLIM1, SORBS1	rs4918918-T	NR	3E-6		1.18		Affymetrix [1922309] (imputed)	N
1326	chr10	97196977	97196978	rs2274491	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	10q24.1	intergenic	rs2274491-?	0.68	7E-6		1.12	[1.06-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1326	chr10	97229761	97229762	rs579342	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q24.1	SORBS1	rs579342-A	0.041	4E-6	(Height z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
1327	chr10	97284080	97284081	rs1326934	25476525	Germain M	2014-12-06	Diabetologia	SORBS1 gene, a new candidate for diabetic nephropathy: results from a multi-stage genome-wide association study in patients with type 1 diabetes.	Diabetic nephropathy in type 1 diabetes	683 European ancestry cases, 779 European ancestry controls	2,962 European ancestry cases, 3,379 European ancestry controls	10q24.1	SORBS1	rs1326934-T	0.57	6E-7		1.19	[1.11-1.27]	Illumina [11133962] (imputed)	N
1327	chr10	97295588	97295589	rs12772243	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q24.1	NR	rs12772243-G	0.0871224178571429	5E-6	(IGP36)	0.2472	[0.14-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
1327	chr10	97301003	97301004	rs11188352	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q24.1	NR	rs11188352-G	0.042712513900135	6E-6	(IGP12)	0.4192	[0.24-0.6] unit increase	Illumina [~ 2500000] (imputed)	N
1327	chr10	97301003	97301004	rs11188352	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q24.1	NR	rs11188352-G	0.0425983854693141	5E-6	(IGP52)	0.4264	[0.24-0.61] unit increase	Illumina [~ 2500000] (imputed)	N
1327	chr10	97301003	97301004	rs11188352	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q24.1	NR	rs11188352-G	0.0425983446750903	3E-6	(IGP73)	0.4377	[0.25-0.62] unit increase	Illumina [~ 2500000] (imputed)	N
1328	chr10	97395961	97395962	rs56322409	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q24.1	ALDH18A1	rs56322409-T	0.63	8E-11	(citrulline)	0.011	[0.0071-0.0149] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1333	chr10	98135504	98135505	rs10786284	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	10q24.1	TLL2	rs10786284-?	NR	2E-6				Affymetrix [504219]	N
1335	chr10	98417929	98417930	rs7098785	24124408	Hong KW	2013-09-30	Genomics Inform	Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.	Orthostatic hypotension	667 Korean ancestry cases,  5,761 Korean ancestry controls	NA	10q24.1	PIK3AP1	rs7098785-T	0.361	5E-6	(Delta SBP)	0.9	[NR] mmHg decrease	Affymetrix [333651]	N
1335	chr10	98432702	98432703	rs7895244	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q24.1	NR	rs7895244-T	0.929057661098705	5E-6	(IGP18)	0.2836	[0.16-0.41] unit increase	Illumina [~ 2500000] (imputed)	N
1337	chr10	98639845	98639846	rs17112190	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		10q24.1	NR	rs17112190-A	0.11	9E-7	(t11;14 vs. controls)	1.8	[1.42-2.27]	Illumina [414804] (imputed)	N
1338	chr10	98794058	98794059	rs12773465	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Mean arterial pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	10q24.1	SLIT1	rs12773465-G	0.84	2E-7	(drinks/week)	0.159	[0.098-0.220] unit decrease	Affymetrix [2500000] (imputed)	N
1338	chr10	98800098	98800099	rs3824789	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q24.1	SLIT1	rs3824789-A	0.248	6E-6	(Cystathionine )	0.03	[NR] umol/L increase	Illumina [899892]	N
1338	chr10	98809702	98809703	rs7902871	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Diastolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	10q24.1	SLIT1	rs7902871-G	0.81	1E-6	(drinks/week)	0.12	[0.075-0.165] unit decrease	Affymetrix [2500000] (imputed)	N
1339	chr10	98908732	98908733	rs7072055	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q24.1	NR	rs7072055-C	0.831620998660116	2E-6	(IGP23)	0.2045	[0.12-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
1342	chr10	99294796	99294797	rs12767760	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q24.2	UBTD1	rs12767760-G	0.364	7E-6	(Total cysteine )	0.02	[NR] umol/L increase	Illumina [899892]	N
1343	chr10	99359738	99359739	rs2297644	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	10q24.2	DHDPSL	rs2297644-?	NR	1E-12	(Gln, His)	0.15	[0.11-0.19] unit increase	Illumina [~ 7700000] (imputed)	N
1344	chr10	99562571	99562572	rs11816631	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	10q24.2	SFRP5, GOLGA7B	rs11816631-G	0.06	3E-7	(EA, PP, Age 40-49)	1.99	[1.23-2.75] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1345	chr10	99637577	99637578	rs531676	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	10q24.2	CRTAC1	rs531676-?	0.45	9E-6	(T2D)			Illumina [308011]	N
1347	chr10	99913131	99913132	rs11189494	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	10q24.2	R3HCC1L	rs11189494-?	NR	7E-6	(Shared)			Affymetrix, Illumina [~ 5200000]	N
1348	chr10	100127550	100127551	rs17109512	21900944	Shen H	2011-09-08	J Hum Genet	Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels.	Aspartate aminotransferase	866 Old Order Amish individuals	NA	10q24.2	GOT1	rs17109512	0.006	3E-14				Affymetrix [373825]	N
1349	chr10	100147059	100147060	rs4345897	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	10q24.2	PYROXD2	rs4345897-A	0.34	4E-12	(1.7775, Unknown)	0.27	[NR] unit decrease	Illumina [713870] (imputed)	N
1349	chr10	100147059	100147060	rs4345897	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	10q24.2	PYROXD2	rs4345897-A	0.34	2E-19	(2.8825, Trimethylamine)	0.34	[NR] unit decrease	Illumina [713870] (imputed)	N
1349	chr10	100147059	100147060	rs4345897	23281178	Hong MG	2013-03-01	Hum Mutat	A genome-wide assessment of variability in human serum metabolism.	Metabolite levels	214 European ancestry prostate cancer cases, 188 European ancestry controls	489 European ancestry prostate cancer cases	10q24.2	PYROXD2	rs4345897-G	NR	2E-91	(Caprolactam)			Affymetrix [333722]	N
1349	chr10	100148057	100148058	rs4539242	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	10q24.2	PYROXD2	rs4539242-T	0.35	2E-20	(1.8025, Unknown)	0.35	[NR] unit decrease	Illumina [713870] (imputed)	N
1349	chr10	100148175	100148176	rs2147896	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	10q24.2	PYROXD2	rs2147896-A	0.35	8E-30	(2.8625, Trimethylamine)	0.42	[NR] unit decrease	Illumina [713870] (imputed)	N
1349	chr10	100148175	100148176	rs2147896	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	10q24.2	PYROXD2	rs2147896-A	0.35	6E-19	(2.8775, Trimethylamine)	0.36	[NR] unit decrease	Illumina [713870] (imputed)	N
1349	chr10	100148175	100148176	rs2147896	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	10q24.2	PYROXD2	rs2147896-A	0.35	4E-34	(2.7125, Unknown)	0.44	[NR] unit decrease	Illumina [713870] (imputed)	N
1349	chr10	100148175	100148176	rs2147896	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	10q24.2	PYROXD2	rs2147896-A	0.35	3E-164	(2.8575, Trimethylamine)	0.85	[NR] unit decrease	Illumina [713870] (imputed)	N
1349	chr10	100148175	100148176	rs2147896	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	10q24.2	PYROXD2	rs2147896-A	0.35	2E-55	(2.8675, Trimethylamine)	0.57	[NR] unit decrease	Illumina [713870] (imputed)	N
1349	chr10	100156852	100156853	rs7072216	21931564	Nicholson G	2011-09-08	PLoS Genet	A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.	Metabolite levels	142 European ancestry female twins	202 European ancestry individuals	10q24.2	PYROXD2, C10orf33	rs7072216-C	NR	8E-15	(TMAu)	1.19	[0.95-1.43] unit decrease	Illumina [2541644] (imputed)	N
1349	chr10	100159135	100159136	rs4488133	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q24.2	PYROXD2	rs4488133-A	0.7	1E-48	(X-12093)	0.099	[0.085-0.113] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1349	chr10	100159135	100159136	rs4488133	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q24.2	PYROXD2	rs4488133-A	0.66	3E-860	(X-12092)	0.282	[0.27-0.29] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1349	chr10	100165996	100165997	rs17455577	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	10q24.2	PYROXD2	rs17455577-C	0.31	3E-22	(2.8725, Trimethylamine)	0.45	[NR] unit increase	Illumina [713870] (imputed)	N
1349	chr10	100170382	100170383	rs6584202	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q24.2	HPS1, PYROXD2	rs6584202-A	0.367	4E-7	(Urinary creatinine )	0.04	[NR] mmol/d increase	Illumina [899892]	N
1350	chr10	100291175	100291176	rs577969	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10q24.2	intergenic	rs577969-T	0.05	4E-6		1.13	[1.07-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1350	chr10	100300181	100300182	rs10786436	21980299	Bradfield JP	2011-09-29	PLoS Genet	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Type 1 diabetes	9,934 European ancestry cases, 16,956 European ancestry controls	1,120 European ancestry affected trios	10q24.2	NR	rs10786436-T	NR	8E-7		1.1	[NR]	Affymetrix, Illumina [~ 2540000] (imputed)	N
1352	chr10	100580122	100580123	rs17470570	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	10q24.2	intergenic	rs17470570-G	0.08	3E-6		1.2	[1.11-1.30]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1352	chr10	100583914	100583915	rs2801405	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q24.2	HPSE2	rs2801405-G	0.33	9E-6	(Urinary free norepinephrine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
1352	chr10	100646180	100646181	rs11189853	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	10q24.2	intergenic	rs11189853-G	0.13	2E-6		1.16	[1.09-1.23]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1353	chr10	100682447	100682448	rs11189867	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	10q24.2	HPSE2	rs11189867-?		7E-6	(AA)	26.8	[NR]	Illumina [936149]	N
1354	chr10	100855701	100855702	rs12570188	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	10q24.2	HPSE2	rs12570188-?	NR	5E-8				Affymetrix [786195]	N
1356	chr10	101157437	101157438	rs76850691	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (aspartate transaminase)	484 Korean ancestry children	NA	10q24.2	GOT1	rs76850691-C	0.019	9E-7		0.099	[0.06-0.138] unit decrease	Illumina [747076]	N
1357	chr10	101274364	101274365	rs7078219	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	10q24.2	NKX2-3	rs7078219-?	NR	6E-6	(DMFS5mand)			Illumina [518997]	N
1357	chr10	101282199	101282200	rs11190134	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	10q24.2	NKX2-3	rs11190134-G	0.6	1E-10	(EA, MCH)	0.011	[0.0032-0.0188] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1357	chr10	101283327	101283330	rs71485777	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q24.2	NR	rs71485777-?	NR	1E-36	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1357	chr10	101283329	101283330	rs10748781	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q24.2	NR	rs10748781-?	NR	2E-63	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1357	chr10	101284236	101284237	rs4409764	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q24.2	NR	rs4409764-A	0.4821	2E-36	(EA)	1.1710649	[1.15-1.2]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1357	chr10	101284236	101284237	rs4409764	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q24.2	NR	rs4409764-A	0.4821	6E-47	(EA)	1.1889576	[1.17-1.21]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1357	chr10	101284236	101284237	rs4409764	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	10q24.2	NKX2-3	rs4409764-T	0.491	1E-54		1.182	[1.149-1.217]	Affymetrix, Illumina [1230000] (imputed)	N
1357	chr10	101284236	101284237	rs4409764	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	10q24.2	NKX2-3	rs4409764-T	0.492	2E-20		1.22	[1.17-1.27]	Affymetrix, Illumina [953241] (imputed)	N
1357	chr10	101287763	101287764	rs10883365	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	10q24.2	NKX2-3	rs10883365-G	0.48	6E-8		1.2	[1.03-1.39]	Affymetrix [469557]	N
1357	chr10	101287763	101287764	rs10883365	17554261	Parkes M	2007-06-06	Nat Genet	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.	Crohn's disease	1,748 cases, 2,938 controls	1,182 European ancestry cases, 2,024 European ancestry controls	10q24.2	NKX2-3	rs10883365-?	0.48	4E-10		1.18	[1.05-1.32]	Affymetrix [see WTCCC]	N
1357	chr10	101288934	101288935	rs12412391	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	10q24.2	NR	rs12412391-G	0.42	7E-7	(East Asian)	1.08	[1.05-1.11]	Affymetrix, Illumina [2400000] (imputed)	N
1357	chr10	101290300	101290301	rs6584283	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	10q24.2	intergenic	rs6584283-T	0.47	8E-21		1.21	[1.16-1.26]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1357	chr10	101290300	101290301	rs6584283	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	10q24.2	NKX2-3	rs6584283-T	0.46	2E-6		1.22	[1.12-1.32]	Affymetrix [1897764] (imputed)	N
1357	chr10	101290300	101290301	rs6584283	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	10q24.2	NKX2, NKX3	rs6584283-?	NR	2E-7				Affymetrix [NR]	N
1357	chr10	101291592	101291593	rs11190140	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	10q24.2	NKX2-3	rs11190140-T	NR	1E-8		1.23	[NR]	Illumina [266047]	N
1357	chr10	101291592	101291593	rs11190140	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	10q24.2	NKX2-3	rs11190140-T	0.48	3E-16		1.2	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1357	chr10	101292389	101292390	rs11190141	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	10q24.2	SLC25A28, GOT1, ENTPD7, CNNM1, COX15, CUTC, NKX2-3	rs11190141-C	0.739	5E-7		1.34	[1.25-1.43]	Affymetrix, Illumina [1060934] (imputed)	N
1358	chr10	101345365	101345366	rs1035209	24737748	Whiffin N	2014-04-15	Hum Mol Genet	Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.	Colorectal cancer	5,626 European ancestry cases, 7,817 European ancestry controls	14,037 European ancestry cases, 15,937 European ancestry controls	10q24.2	SLC25A28, ABCC2, MRP2, NKX2-3	rs1035209-T	0.195	5E-11		1.12	[1.08-1.16]	Illumina [NR] (imputed)	N
1358	chr10	101351703	101351704	rs11190164	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	10q24.2	ENTPD7, COX15, CUTC, ABCC2, SLC25A28	rs11190164-G	0.29	8E-7	(EA)	1.1	[1.05-1.14]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1358	chr10	101351703	101351704	rs11190164	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	10q24.2	ENTPD7, COX15, CUTC, ABCC2, SLC25A28	rs11190164-G	0.29	4E-8		1.09	[1.06-1.12]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1358	chr10	101351703	101351704	rs11190164	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	10q24.2	SLC25A28, NKX2-3	rs11190164-G	0.29	8E-7		1.13	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
1358	chr10	101365312	101365313	rs11190179	23279374	Athanasiadis G	2013-01-02	J Thromb Haemost	Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.	&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels	306 European ancestry individuals	NA	10q24.2	SLC25A28	rs11190179-G	0.12	2E-6		0.65	unit increase	Illumina [283437]	N
1359	chr10	101492402	101492403	rs2281636	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q24.2	COX15, CUTC	rs2281636-A	0.336	6E-6	(LDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1361	chr10	101795360	101795361	rs10883437	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alanine transaminase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	10q24.2	CPN1	rs10883437-T	0.64	4E-9		2.3	[1.40-3.10] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1361	chr10	101805441	101805442	rs11599750	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	10q24.2	CPN1	rs11599750-T	0.38	2E-13		0.028	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1361	chr10	101813801	101813802	rs7084921	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	10q24.2	CPN1	rs7084921-T	0.39	9E-10	(FNBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1362	chr10	101861434	101861435	rs11597390	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	10q24.31	CHUK, ERLIN1, CPN1	rs11597390-A	0.36	2E-8	(ALT)	0.04	[0.025-0.053] U/L decrease	Affymetrix, Illumina [up to 496032]	N
1362	chr10	101906332	101906333	rs975752	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q24.31	NR	rs975752-A	NR	5E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
1362	chr10	101930408	101930409	rs11595238	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	10q24.31	ERLIN1	rs11595238-?	0.04	2E-6	(Prostate cancer, rectal incontinence, multivariable analysis)	6.61		Illumina [2417493] (imputed)	N
1363	chr10	102066184	102066185	rs17112901	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q24.31	PKD2L1	rs17112901-A	0.163	2E-6	(Total antioxidants )	0.03	[NR] mM increase	Illumina [899892]	N
1363	chr10	102075478	102075479	rs603424	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	10q24.31	PKD2L1, SCD	rs603424-A	0.1724	9E-19	(lysoPhosphatidylcholine acyl C16:1)	0.066	[0.051-0.081] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1363	chr10	102075478	102075479	rs603424	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	10q24.31	SCD	rs603424-A	0.18	1E-115	(myristate (14:0)/myristoleate (14:1n5))	0.054	[0.05-0.058] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1363	chr10	102075478	102075479	rs603424	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q24.31	SCD	rs603424-A	0.19	7E-16	(myristoleate (14:1n5))	0.037	[0.027-0.047] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1363	chr10	102075478	102075479	rs603424	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q24.31	SCD	rs603424-A	0.19	2E-14	(margarate (17:0))	0.029	[0.021-0.037] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1363	chr10	102075478	102075479	rs603424	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q24.31	SCD	rs603424-A	0.18	6E-21	(stearate (18:0))	0.023	[0.019-0.027] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1363	chr10	102075478	102075479	rs603424	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q24.31	SCD	rs603424-A	0.18	1E-14	(palmitoleate (16:1n7))	0.037	[0.027-0.047] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1363	chr10	102075478	102075479	rs603424	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	10q24.31	PKD2L1	rs603424-G	0.32	1E-11	(Palmitoleate (16:1n7))	0.11	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1363	chr10	102075478	102075479	rs603424	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		10q24.31	PKD2L1	rs603424-A	0.193	6E-15		0.033	[0.024-0.041] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1363	chr10	102075478	102075479	rs603424	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		10q24.31	PKD2L1, SCD	rs603424-A	NR	2E-7		0.1891	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1363	chr10	102075478	102075479	rs603424	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	10q24.31	PKD2L1	rs603424-?	NR	6E-14	(levels)	1.4	[NR] % increase	Illumina [NR] (imputed)	N
1363	chr10	102075478	102075479	rs603424	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	10q24.31	SCD	rs603424-A	0.189	3E-57	(SM-6 + 94 other traits)	0.124	[NR] unit increase	Affymetrix, Illumina [534665]	N
1365	chr10	102256196	102256197	rs9420790	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	10q24.31	ERLIN1	rs9420790-A	0.08	2E-6	(AA-triglyceride response)	34.63	[20.46-48.8] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1365	chr10	102302456	102302457	rs11190604	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		10q24.31	HIF1AN, SCD, SEC31B, NDUFB8, WNT8B	rs11190604-A	0.782	6E-9		0.0236	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1366	chr10	102395439	102395440	rs17094222	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q24.31	HIF1AN	rs17094222-C	0.211	8E-10	(EA, men)	0.031	[0.021-0.04] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1366	chr10	102395439	102395440	rs17094222	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q24.31	HIF1AN	rs17094222-C	0.211	6E-11	(EA)	0.025	[0.017-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1366	chr10	102395439	102395440	rs17094222	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q24.31	HIF1AN	rs17094222-C	0.209	2E-11		0.025	[0.018-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1367	chr10	102501570	102501571	rs4509693	20061627	Heinzen EL	2009-09-11	J Alzheimers Dis	Genome-wide scan of copy number variation in late-onset Alzheimer's disease.	Alzheimer's disease	331 European ancestry cases, 368 European ancestry controls	NA	10q24.31	PAX2	rs4509693-?	0.18	6E-6				Illumina [~ 550000]	N
1369	chr10	102764046	102764047	rs807029	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10q24.31	LZTS2	rs807029-?	NR	4E-7				Affymetrix [5486770] (imputed)	N
1370	chr10	102979206	102979207	rs11190870	26211971	Ogura Y	2015-07-23	Am J Hum Genet	A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.	Adolescent idiopathic scoliosis	2,109 Japanese ancestry cases, 11,140 Japanese ancestry controls	2,223 East Asian ancestry cases, 4,724 East Asian ancestry controls	10q24.32	LBX1	rs11190870-T	0.557	5E-39		1.61	[1.50-1.73]	Illumina [4420789] (imputed)	N
1370	chr10	102979206	102979207	rs11190870	22019779	Takahashi Y	2011-10-23	Nat Genet	A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.	Scoliosis	1,033 Japanese ancestry adolescent female cases, 1,473 Japanese ancestry female controls	326 Japanese ancestry adolescent female cases, 9,823 Japanese ancestry female controls	10q24.32	LBX1	rs11190870-?	0.57	1E-19		1.56	[1.41-1.71]	Illumina [455121]	N
1374	chr10	103479061	103479062	rs114540395	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q24.32	NR	rs114540395-T	NR	1E-6		1.1	[NR]	Illumina [7158791] (imputed)	N
1376	chr10	103698704	103698705	rs34014631	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	10q24.32	C10orf76	rs34014631-A	0.06	4E-6	(AA)	0.47	[0.27-0.67] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1376	chr10	103802407	103802408	rs11191193	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	10q24.32	intergenic	rs11191193-A	0.653	6E-7		0.023	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1378	chr10	104050005	104050006	rs2485376	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	10q24.32	GBF1	rs2485376-A	0.391	3E-8		0.56	[0.36-0.76] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1379	chr10	104191600	104191601	rs1409313	25534755	Chaste P	2014-09-30	Biol Psychiatry	A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?	Autism spectrum disorder-related traits	1633 European ancestry trios, 942 trios	NA	10q24.32	CUEDC2	rs1409313-?	NR	4E-7	(ASD paternal model)	1.75	[1.40-2.18]	Illumina [up to 2017939]	N
1380	chr10	104207798	104207799	rs927821	24133439	Jones RM	2013-10-11	Front Hum Neurosci	Genome-wide association study of autistic-like traits in a general population study of young adults.	Social autistic-like traits	965 European ancestry young adult individuals	NA	10q24.32	MIR146B, LOC100505761	rs927821-A		3E-6		1.7024	[0.99-2.42] unit increase	Illumina [2462046] (imputed)	N
1380	chr10	104232715	104232716	rs3740415	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q24.32	NFKB2, TRIM8, TMEM180	rs3740415-A	0.53	3E-7	(EA)	1.0690618		Affymetrix, Illumina [~ 9000000] (imputed)	N
1380	chr10	104264106	104264107	rs2274351	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	10q24.32	NR	rs2274351-?	NR	7E-9	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1380	chr10	104300637	104300638	rs9665626	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q24.32	NR	rs9665626-G	NR	5E-9		1.1111112	[NR]	Illumina [7158791] (imputed)	N
1381	chr10	104359349	104359350	rs3824756	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q24.32	SUFU	rs3824756-C	0.104	8E-7		0.025	[0.015-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1381	chr10	104359349	104359350	rs3824756	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q24.32	SUFU	rs3824756-C	0.09	3E-6	(EA)	0.025	[0.015-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1381	chr10	104414220	104414221	rs3850699	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	10q24.32	CNNM2, CUEDC2, CYP17A1, FBXL15, LOC100505761, MIR146B, PSD, SFXN2, SUFU, TMEM180, ARL3, ACTR1A, AS3MT, TRIM8, C10orf32, C10orf32-AS3MT, WBP1L, C10orf95	rs3850699-A	0.71	5E-10		1.1	[1.06-1.12]	Illumina [~ 2600000] (imputed)	N
1382	chr10	104487442	104487443	rs7917772	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	10q24.32	SFXN2	rs7917772-A	0.6194	6E-9	(EA, women)	0.0269	[0.018-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1382	chr10	104487442	104487443	rs7917772	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	10q24.32	SFXN2	rs7917772-A	0.6186	2E-8	(women)	0.0251	[0.016-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1382	chr10	104591392	104591393	rs17115100	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	10q24.32	SFXN2, C10orf32, CNNM2, CYP17A1	rs17115100-G	0.91	7E-8		1.25	[NR]	Illumina [463185]	N
1382	chr10	104594506	104594507	rs1004467	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Systolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	10q24.32	CYP17A1	rs1004467-A	0.90	1E-10		1.05	[0.74-1.36] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
1383	chr10	104595848	104595849	rs3824755	24001895	Kelly TN	2013-09-03	Hypertension	Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.	Blood pressure	22,275 East Asian ancestry individuals, 4,325 South East Asian ancestry individuals	28,783 East Asian ancestry individuals	10q24.32	CYP17A1	rs3824755-C	0.32	1E-6	(MAP)	0.5	[0.3-0.7] mm of mercury decrease	Affymetrix, Illumina [~ 2400000] (imputed)	N
1383	chr10	104612334	104612335	rs11191419	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q24.32	NR	rs11191419-T	NR	3E-18		1.098901	[NR]	Illumina [7158791] (imputed)	N
1383	chr10	104612334	104612335	rs11191419	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	10q24.32	ARL3, AS3MT, C10orf32, CNNM2, CYP17A1, INA, NT5C2, PCGF6, PDCD11, SFXN2, TAF5, TRIM8, USMG5, WBP1L	rs11191419-T	0.64	6E-19		1.1037527	[1.08-1.13]	Affymetrix, Illumina [9005918] (imputed)	N
1383	chr10	104616662	104616663	rs4409766	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	10q24.32	CYP17A1	rs4409766-T	0.71	6E-17		1.24	[0.95-1.53] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1383	chr10	104616662	104616663	rs4409766	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	10q24.32	CYP17A1	rs4409766-T	0.71	7E-13				Affymetrix, Illumina [2485448] (imputed)	N
1383	chr10	104616662	104616663	rs4409766	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	10q24.32	CYP17A1	rs4409766-T	0.71	6E-13		0.59	[0.41-0.77] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1383	chr10	104623577	104623578	rs9527	22383894	Pierce BL	2012-02-23	PLoS Genet	Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh.	Arsenic metabolism	1,313 Bangladeshi ancestry individuals	NA	10q24.32	AS3MT, C10orf32	rs9527-?	NR	3E-9	(DMA%)			Illumina [259597]	N
1383	chr10	104628872	104628873	rs7085104	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	10q24.32	MIR1307, SFXN2, ST13P13, PCGF6, PDCD11, NT5C2, TAF5, AS3MT, C10orf32, INA, USMG5, WBP1L, CNNM2, CALHM1, CALHM2, CYP17A1, CALHM3	rs7085104-A	0.645	4E-13		1.11	[1.08-1.14]	Affymetrix, Illumina [9871789]	N
1383	chr10	104629010	104629011	rs12416687	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	10q24.32	AS3MT	rs12416687-T		4E-9	(EA, MAP, Age 50-59)	0.59	[0.39-0.79] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1383	chr10	104660003	104660004	rs11191454	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	10q24.32	AS3MT	rs11191454-?	0.91	1E-8		1.13	[1.08-1.18]	NR [1252901] (imputed)	N
1383	chr10	104662457	104662458	rs7897654	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	10q24.32	NT5C2, AS3MT, CNNM2	rs7897654-T	0.30	3E-7		1.2	[NR]	NR [1085772] (imputed)	N
1383	chr10	104698977	104698978	rs4919694	22383894	Pierce BL	2012-02-23	PLoS Genet	Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh.	Arsenic metabolism	1,313 Bangladeshi ancestry individuals	NA	10q24.32	CNNM2	rs4919694-?	NR	3E-8	(MMA%)			Illumina [259597]	N
1383	chr10	104719095	104719096	rs12413409	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	10q24.32	NT5C2, CNNM2, YP17A1	rs12413409-?		2E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1383	chr10	104719095	104719096	rs12413409	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	10q24.32	NT5C2, CNNM2, CYP17A1	rs12413409-A	NR	1E-6		1.1236	[1.08-1.19]	Illumina [575000] (imputed)	N
1383	chr10	104719095	104719096	rs12413409	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	10q24.32	NT5C2, CNNM2, CYP17A1	rs12413409-G	0.89	1E-9		1.12	[1.08-1.16]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1383	chr10	104719095	104719096	rs12413409	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	10q24.32	intergenic	rs12413409-?	NR	4E-6				Illumina [574919]	N
1383	chr10	104719095	104719096	rs12413409	20364137	Yasuno K	2010-04-04	Nat Genet	Genome-wide association study of intracranial aneurysm identifies three new risk loci.	Intracranial aneurysm	2,780 European ancestry cases, 12,515 European ancestry controls	3,111 Japanese ancestry cases, 1,666 Japanese ancestry controls	10q24.32	CNNM2	rs12413409-G	0.91	1E-9		1.29	[1.19-1.40]	Illumina [831534] (imputed)	N
1384	chr10	104741582	104741583	rs55833108	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q24.32	NR	rs55833108-T	NR	1E-8		1.08	[NR]	Illumina [7158791] (imputed)	N
1384	chr10	104748717	104748718	rs1890185	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10q24.32	intergenic	rs1890185-G	0.39	4E-7		1.06	[1.04-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1384	chr10	104775907	104775908	rs7914558	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	10q24.32	CNNM2	rs7914558-?	0.587	2E-9	(Modelling analysis)			NR [1252901] (imputed)	N
1384	chr10	104775907	104775908	rs7914558	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	10q24.32	CNNM2	rs7914558-G	0.59	2E-8		1.22	[1.15-1.29]	Affymetrix, Illumina [1252901] (imputed)	N
1384	chr10	104846177	104846178	rs11191548	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	10q24.32	NT5C2, CYP17A1	rs11191548-T	0.91	7E-26		1.095	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1384	chr10	104846177	104846178	rs11191548	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	10q24.32	NT5C2, CYP17A1	rs11191548-T	0.94	8E-11	(Pulse Pressure)	0.529	[0.37-0.69] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1384	chr10	104846177	104846178	rs11191548	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	10q24.32	NT5C2, CNNM2, CYP17A1	rs11191548-T	0.74	7E-12	(Diastolic)	0.58	[0.42-0.74] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1384	chr10	104846177	104846178	rs11191548	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	10q24.32	NT5C2, CNNM2, CYP17A1	rs11191548-T	0.74	4E-17	(Systolic)	1.18	[0.91-1.45] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1384	chr10	104846177	104846178	rs11191548	19430483	Newton-Cheh C	2009-05-10	Nat Genet	Genome-wide association study identifies eight loci associated with blood pressure.	Systolic blood pressure	34,433 European ancestry individuals	Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals	10q24.32	NT5C2, AS3MT, CNNM2, CYP17A1	rs11191548-T	0.91	7E-24		1.16	[0.92-1.40] mm Hg increase	Affymetrix, Illumina [2497993] (imputed)	N
1385	chr10	104869037	104869038	rs11191560	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q24.33	NT5C2	rs11191560-C	0.091	2E-9		0.031	[0.021-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1385	chr10	104869037	104869038	rs11191560	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q24.33	NT5C2	rs11191560-C	0.089	8E-9	(EA)	0.031	[0.02-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1385	chr10	104871278	104871279	rs10883832	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q24.33	NR	rs10883832-T	NR	2E-16		1.16	[NR]	Illumina [7158791] (imputed)	N
1385	chr10	104906210	104906211	rs11191580	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	10q24.33	NT5C2	rs11191580-C	0.27	4E-8		0.0295	[0.019-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1385	chr10	104906210	104906211	rs11191580	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	10q24.33	NT5C2	rs11191580-?	0.911	1E-8	(Modelling analysis)			NR [1252901] (imputed)	N
1385	chr10	104906210	104906211	rs11191580	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	10q24.33	NT5C2, other genes, CNNM2	rs11191580-?	NR	2E-9		1.23	[NR]	Affymetrix [745006]	N
1385	chr10	104906210	104906211	rs11191580	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	10q24.33	NT5C2	rs11191580-T	0.91	3E-8		1.2	[1.13-1.26]	Affymetrix, Illumina [1252901] (imputed)	N
1385	chr10	104939214	104939215	rs11191593	24001895	Kelly TN	2013-09-03	Hypertension	Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.	Blood pressure	22,275 East Asian ancestry individuals, 4,325 South East Asian ancestry individuals	28,783 East Asian ancestry individuals	10q24.33	NT5C2	rs11191593-T	0.74	1E-6	(MAP)	0.54	[0.32-0.76] mm of mercury increase	Affymetrix, Illumina [~ 2400000] (imputed)	N
1385	chr10	104939214	104939215	rs11191593	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	10q24.33	NT5C2, CYP17A1	rs11191593-T	0.94	1E-15	(Mean Arterial Pressure)	0.66	[0.50-0.82] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1385	chr10	104973316	104973317	rs190474885	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q24.33	NR	rs190474885-C	NR	1E-6		1.2048193	[NR]	Illumina [7158791] (imputed)	N
1386	chr10	105033014	105033015	rs1712517	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	10q24.33	INA	rs1712517-T	0.48	9E-6		1.13	[1.07-1.17]	Illumina [1246388] (imputed)	N
1387	chr10	105176178	105176179	rs7894407	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	10q24.33	PDCD11	rs7894407-T	0.65	3E-8				Affymetrix, Illumina [14227402] (imputed)	N
1387	chr10	105176178	105176179	rs7894407	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	10q24.33	PDCD11	rs7894407-T	0.65	2E-9	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1388	chr10	105257785	105257786	rs7071247	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	10q24.33	NEURL	rs7071247-T	0.119	2E-7	(epinephrine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
1388	chr10	105297769	105297770	rs7069733	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	10q24.33	NR	rs7069733-C		7E-6	(Modelling analysis)	1.08	[1.04-1.12]	NR [1252901] (imputed)	N
1388	chr10	105319040	105319041	rs11597473	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q24.33	NR	rs11597473-G	NR	1E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1388	chr10	105319408	105319409	rs72848980	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	10q24.33	NEURL	rs72848980-G	0.8	6E-9	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1388	chr10	105319408	105319409	rs72848980	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	10q24.33	NEURL	rs72848980-G	0.8	3E-9				Affymetrix, Illumina [14227402] (imputed)	N
1388	chr10	105356836	105356837	rs7921536	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10q24.33	SH3PXD2A, NEURL, OBFC1	rs7921536-G	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
1389	chr10	105390342	105390343	rs12248541	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10q24.33	SH3PXD2A, NEURL, OBFC1	rs12248541-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1389	chr10	105438111	105438112	rs12357919	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	10q24.33	SH3PXD2A	rs12357919-T	0.81	2E-8	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1389	chr10	105438111	105438112	rs12357919	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	10q24.33	SH3PXD2A	rs12357919-T	0.81	2E-8				Affymetrix, Illumina [14227402] (imputed)	N
1390	chr10	105613177	105613178	rs7909791	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	10q24.33	SH3PXD2A	rs7909791-A	0.34	3E-9				Affymetrix, Illumina [14227402] (imputed)	N
1390	chr10	105613177	105613178	rs7909791	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	10q24.33	SH3PXD2A	rs7909791-A	0.34	2E-8	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1391	chr10	105647094	105647095	rs3814219	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Endothelial function traits	Up to 1,238 European ancestry individuals	NA	10q24.33	OBFC1	rs3814219-?	NR	9E-7	(BABF)			Affymetrix [70897]	N
1391	chr10	105668842	105668843	rs2995264	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	10q24.33	OBFC1, SH3PXD2A	rs2995264-G	0.088	2E-9		0.16	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
1391	chr10	105672841	105672842	rs11191865	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	10q24.33	OBFC1	rs11191865-A	0.49	2E-8		1.25	[1.15-1.35]	Illumina [439828]	N
1391	chr10	105675945	105675946	rs9419958	23001564	Mangino M	2012-09-25	Hum Mol Genet	Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.	Telomere length	9,190 European ancestry individuals	2,226 individuals	10q24.33	OBFC1	rs9419958-T	0.1353	9E-11		0.0829	[0.057-0.108] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1391	chr10	105676464	105676465	rs9420907	23535734	Codd V	2013-04-01	Nat Genet	Identification of seven loci affecting mean telomere length and their association with disease.	Telomere length	37,684 European ancestry individuals	10,739 European ancestry individuals	10q24.33	OBFC1	rs9420907-A	0.865	7E-11		0.069	[0.049-0.089] unit decrease	Affymetrix, Illumina [2362330]	N
1391	chr10	105677896	105677897	rs4387287	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	10q24.33	OBFC1	rs4387287-A	NR	2E-11		0.1	[0.06-0.14] kb increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1391	chr10	105714398	105714399	rs7913069	21460842	Cha PC	2011-04-03	Nat Genet	A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.	Uterine fibroids	1,607 Japanese ancestry cases, 1,428 Japanese ancestry controls	3,439 Japanese ancestry cases, 3,244 Japanese ancestry controls	10q24.33	OBFC1, SLK	rs7913069-A	0.07	9E-14		1.47	[1.23-1.75]	Illumina [457044]	N
1392	chr10	105846073	105846074	rs1320448	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	10q25.1	COL17A1	rs1320448-?	NR	2E-8	(additive, recessive)			Affymetrix [361034]	N
1392	chr10	105884115	105884116	rs10883969	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	10q25.1	C10orf78	rs10883969-?	NR	3E-6	(EA)	2.97	[1.88-4.69]	Illumina [2485249] (imputed)	N
1393	chr10	105966403	105966404	rs515910	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	10q25.1	C10orf79	rs515910-?	NR	4E-6				Affymetrix [504219]	N
1395	chr10	106205074	106205075	rs11599218	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q25.1	NR	rs11599218-G	NR	4E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1398	chr10	106569206	106569207	rs61867294	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q25.1	NR	rs61867294-A	NR	2E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1404	chr10	107407315	107407316	rs144529734	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10q25.1	NR	rs144529734-?	NR	6E-8	(Latino)	1.301	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1405	chr10	107516351	107516352	rs17119461	21706340	Teerlink C	2011-06-26	Hum Genet	A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.	Melanoma	156 European ancestry cases from 34 high-risk families, 2,150 European ancestry controls	NA	10q25.1	NR	rs17119461-?	0.04	7E-12		8.4	[4.20-17.0]	Illumina [491227]	N
1410	chr10	108254463	108254464	rs2039964	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	10q25.1	intergenic	rs2039964-A		7E-6		0.2877	unit decrease	Illumina [5767231] (imputed)	N
1412	chr10	108414763	108414764	rs978571	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10q25.1	NR	rs978571-?	NR	3E-6	(Latino)	0.7898	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1412	chr10	108437638	108437639	rs821931	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	10q25.1	SORCS1	rs821931-G		9E-6		1.587		Affymetrix [NR]	N
1412	chr10	108498077	108498078	rs2486152	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	10q25.1	SORCS1	rs2486152-A		7E-6		0.1	[0.06-0.15] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1419	chr10	109374383	109374384	rs11193561	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	10q25.1	SORCS1, LOC100128304	rs11193561-A	0.239	6E-6		1.19	[NR]	Illumina [580699]	N
1419	chr10	109380263	109380264	rs10884482	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (non-dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	10q25.1	intergenic	rs10884482-T	0.07	6E-8				Affymetrix, Illumina [~ 2500000] (imputed)	N
1420	chr10	109510094	109510095	rs4608000	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	10q25.1	NR	rs4608000-?	NR	3E-6		8.081	[4.82-11.34] unit decrease	Illumina [498648]	N
1420	chr10	109533751	109533752	rs4285805	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10q25.1	NR	rs4285805-?	NR	3E-6	(Latino)	0.2418	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1420	chr10	109569849	109569850	rs12570947	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	10q25.1	NR	rs12570947-?	NR	4E-6		1.45	[NR]	Illumina [NR] (imputed)	N
1421	chr10	109626065	109626066	rs1834180	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	10q25.1	intergenic	rs1834180-A	0.68	5E-7		0.097	[0.060-0.134] unit increase	Illumina [~ 2500000] (imputed)	N
1431	chr10	110971434	110971435	rs17783561	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q25.1	NR	rs17783561-T	0.135585937974119	6E-6	(IGP56)	0.2748	[0.16-0.39] unit decrease	Illumina [~ 2500000] (imputed)	N
1434	chr10	111296289	111296290	rs34704559	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	10q25.1	intergenic	rs34704559-G	0.8786	2E-6	(Ordinal)	0.435	[0.26-0.61] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1436	chr10	111635211	111635212	rs3818285	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Superior crus of antihelix expression	4,919 Latin American individuals	NA	10q25.1	NR	rs3818285-?	NR	9E-7	(FDR adjusted)			Illumina [671038]	N
1437	chr10	111735749	111735750	rs17095355	20460270	Garcia-Barcelo MM	2010-05-11	Hum Mol Genet	Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.	Biliary atresia	281 Chinese ancestry cases, 481 Chinese ancestry controls	124 Chinese ancestry cases, 90 Chinese ancestry controls	10q25.1	XPNPEP1, ADD3	rs17095355-T	0.409	7E-9		1.77	[1.38-2.26]	Affymetrix [289118]	N
1439	chr10	112006485	112006486	rs716595	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Normalized brain volume	753 European ancestry cases, 883 European ancestry controls	NA	10q25.2	MXI1	rs716595-?	0.08	8E-6			[NR]	Illumina [551642]	N
1439	chr10	112036974	112036975	rs11195062	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	10q25.2	NR	rs11195062-A		3E-6		1.132	[NR]	Illumina [414804]	N
1440	chr10	112186147	112186148	rs11195128	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	10q25.2	SMNDC1, DUSP5, RP11-525A16.1	rs11195128-T	0.152	2E-10		1.42	[1.28-1.58]	Illumina [5664371] (imputed)	N
1446	chr10	112877800	112877801	rs2065779	22754043	Byrne EM	2012-07-01	Sleep	A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.	Insomnia (caffeine-induced)	2,402 European ancestry individuals from 1,470 families	NA	10q25.2	RP11-479A21.1	rs2065779-?	0.93	3E-6		1.82	[1.41-2.33]	Illumina [2380486] (imputed)	N
1446	chr10	112909104	112909105	rs869244	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	10q25.2	ADRA2A	rs869244-A	0.353	3E-12	(epinephrine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
1447	chr10	113016227	113016228	rs12257178	26081443	Adkins DE	2015-06-17	Twin Res Hum Genet	Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood.	Longitudinal alcohol consumption	2,126 adolescents and early adults	NA	10q25.2	ADRA2A	rs12257178-A	0.39	5E-7	(trajectory)	5.04	z-score decrease	Illumina [866099] (imputed)	N
1447	chr10	113042092	113042093	rs10885122	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	10q25.2	ADRA2A	rs10885122-?	NR	9E-8				Affymetrix, Illumina [~ 2400000] (imputed)	N
1447	chr10	113042092	113042093	rs10885122	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	10q25.2	ADRA2A	rs10885122-G	0.87	3E-16	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1447	chr10	113042092	113042093	rs10885122	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	10q25.2	ADRA2A	rs10885122-G	0.87	2E-6	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1453	chr10	113810428	113810429	rs150400940	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10q25.2	NR	rs150400940-?	NR	7E-7		0.3888	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1454	chr10	113910720	113910721	rs1129555	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	10q25.2	GPAM	rs1129555-A	0.27	5E-7		0.035	[0.021-0.049] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1454	chr10	113913221	113913222	rs2297991	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	10q25.2	GPAM	rs2297991-T	0.28	8E-10		0.042	[0.028-0.056] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1454	chr10	113933885	113933886	rs2255141	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	10q25.2	GPAM	rs2255141-A	0.30	1E-13		0.03	[NR] unit increase	NR [NR] (imputed)	N
1454	chr10	113933885	113933886	rs2255141	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	10q25.2	GPAM	rs2255141-A	0.3	7E-16		0.031	[NR] unit increase	NR [NR] (imputed)	N
1454	chr10	113933885	113933886	rs2255141	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	10q25.2	GPAM	rs2255141-A	0.29	2E-9		1.08	[0.69-1.47] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1454	chr10	113933885	113933886	rs2255141	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	10q25.2	GPAM	rs2255141-A	0.3	2E-10		1.14	[0.75-1.53] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1456	chr10	114202525	114202526	rs12355831	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10q25.2	intergenic	rs12355831-G	0.11	2E-6		1.09	[1.05-1.14]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1456	chr10	114280701	114280702	rs12241008	25105248	Wang H	2014-08-08	Nat Commun	Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.	Colorectal cancer	2,627 Japanese ancestry cases, 3,797 Japanese ancestry controls, 1,893 African American cases, 4,703 African American controls	16,823 European ancestry cases, 18,211 European ancestry controls	10q25.2	VTI1A	rs12241008-C	0.090	1E-9		1.13	[1.09-1.18]	Illumina [4276079] (imputed)	N
1457	chr10	114386738	114386739	rs76124550	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10q25.2	NR	rs76124550-?	NR	1E-6	(Latino)	1.0661	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1457	chr10	114388271	114388272	rs17267338	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		10q25.2	VTI1A	rs17267338-?		8E-6	(Cluxel size)			Illumina [208975]	N
1458	chr10	114498475	114498476	rs7086803	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	10q25.2	VTI1A	rs7086803-A	0.27	4E-18		1.28	[1.21-.1.35]	Illumina [596032]	N
1460	chr10	114726842	114726843	rs11196172	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	10q25.2	TCF7L2	rs11196172-A	0.68	1E-12	(East Asian)	1.14	[1.10-1.18]	Affymetrix, Illumina [2400000] (imputed)	N
1460	chr10	114734095	114734096	rs11196174	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Breast Cancer in BRCA1 mutation carriers	1,426 European ancestry cases, 1,301 European ancestry controls	6,031 European ancestry cases, 5,933 European ancestry controls	10q25.2	TCF7L2	rs11196174-G	0.28	8E-7		1.13	[1.07-1.18]	Illumina [2568349] (imputed)	N
1460	chr10	114754070	114754071	rs34872471	25483131	Ghassibe-Sabbagh M	2014-12-08	Sci Rep	T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.	Type 2 diabetes	1,384 Lebanese ancestry cases, 1,902 Lebanese ancestry controls	NA	10q25.2	TCF7L2	rs34872471-C	0.40	8E-8		1.32	[1.19-1.46]	Illumina [5891794] (imputed)	N
1460	chr10	114754087	114754088	rs7901695	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Type 2 diabetes	1,264 African American cases, 5,678 African American controls	503 African American cases, 1,656 African American controls	10q25.2	TCF7L2	rs7901695-?	0.45	1E-6	(T2D)	1.1947432	[1.11-1.28]	Affymetrix [~ 2740000] (imputed)	N
1460	chr10	114754087	114754088	rs7901695	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	10q25.2	TCF7L2	rs7901695-C	NR	1E-48	(DGI+FUSION+WTCCC)	1.37	[1.31-1.43]	Affymetrix [393453]	N
1460	chr10	114756040	114756041	rs4506565	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	10q25.2	TCF7L2	rs4506565-T	0.31	1E-8	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1460	chr10	114756040	114756041	rs4506565	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	(see Zeggini 2007)	10q25.2	TCF7L2	rs4506565-T	0.32	5E-12		1.36	[1.20-1.54]	Affymetrix [469557]	N
1460	chr10	114758348	114758349	rs7903146	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q25.2	TCF7L2	rs7903146-C	0.713	1E-12		0.024	[0.017-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1460	chr10	114758348	114758349	rs7903146	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q25.2	TCF7L2	rs7903146-C	0.713	1E-11	(EA)	0.023	[0.017-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1460	chr10	114758348	114758349	rs7903146	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q25.2	TCF7L2	rs7903146-C	0.712	4E-11	(EA, men)	0.029	[0.021-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1460	chr10	114758348	114758349	rs7903146	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.3	5E-44	(AA)	1.33	[1.28-1.39]	Affymetrix, Illumina [2579389] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.3	4E-94		1.36	[1.32-1.40]	Affymetrix, Illumina [2579389] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.3	8E-75		1.4	[1.35-1.46]	Affymetrix, Illumina [2500000] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	24390345	Williams AL	2013-12-25	Nature	Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.	Type 2 diabetes	3,848 Mexican and other Latin American ancestry cases, 4,366 Mexican and other Latin American ancestry controls	896 Mexican American cases, 832 Mexican American controls, 2,768 East Asian ancestry cases, 2,880 East Asian ancestry controls, 1,082 South Asian ancestry cases, 1,105 South Asian ancestry controls, 1,874 European ancestry cases, 1,333 European ancestry controls, 2,127 African American cases, 2,103 African American controls, 698 Native Hawaiian ancestry cases, 579 Native Hawaiian ancestry controls, 2,009 Singaporean ancestry cases, 1959 Singaporean ancestry controls	10q25.2	TCF7L2	rs7903146-T	NR	1E-14		1.37	[1.27-1.48]	Illumina [9200000] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.04	2E-15		1.48	[1.34-1.63]	Illumina [6209637] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.5	9E-75	(South Asian, East Asian, Europeans)	1.19	[1.17 - 1.21]	Illumina [1232008] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.31	6E-22	(All Punjabi)	1.3	[1.23 - 1.37]	Illumina [1232008] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.31	3E-19	(Punjabi Sikhs)	1.44	[1.33 - 1.56]	Illumina [1232008] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.3	3E-35	(South Asians)	1.15	[1.13 - 1.18]	Illumina [1232008] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.3	2E-38	(South Asians, East Asians)	1.15	[1.12 - 1.17]	Illumina [1232008] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	23209189	Tabassum R	2012-12-03	Diabetes	Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.	Type 2 diabetes	1,101 Indo-European ancestry cases, 1,027 Indo-European ancestry controls	3,607 Indo-European ancestry cases, 2,924 Indo-European ancestry controls, 1,184 Dravidian ancestry cases, 1,061 Dravidian ancestry controls, 11,285 European ancestry cases, 11,285 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.30	1E-35	(Indo-European South Asians)	1.51	[1.42-1.62]	Illumina [536420]	N
1460	chr10	114758348	114758349	rs7903146	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	10q25.2	TCF7L2	rs7903146-T	0.29	4E-21	(Obese)	1.26	[1.20 - 1.32]	NR [NR]	N
1460	chr10	114758348	114758349	rs7903146	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	10q25.2	TCF7L2	rs7903146-T	0.29	2E-40	(Lean)	1.58	[1.47-1.68]	NR [NR]	N
1460	chr10	114758348	114758349	rs7903146	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	10q25.2	TCF7L2	rs7903146-?	NR	3E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	10q25.2	TCF7L2	rs7903146-?	NR	2E-14				Affymetrix, Illumina [~ 2400000] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	22101970	Kho AN	2011-11-19	J Am Med Inform Assoc	Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study.	Type 2 diabetes	2,413 European ancestry cases, 2,392 European ancestry controls, 810 African American cases, 873 African American controls	NA	10q25.2	TCF7L2	rs7903146-T	0.26 (EA+AA)	2E-15		1.46	[NR]	Illumina [NR]	N
1460	chr10	114758348	114758349	rs7903146	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	10q25.2	TCF7L2	rs7903146-T	0.30	2E-20				Affymetrix, Illumina [~ 2500000] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	20849430	Franklin CS	2010-09-16	Ann Hum Genet	The TCF7L2 diabetes risk variant is associated with HbA&#x02081;(C) levels: a genome-wide association meta-analysis.	Glycated hemoglobin levels	1,782 European ancestry individuals	NA	10q25.2	TCF7L2	rs7903146-C	0.72	1E-7		0.05	[0.02-0.08] % HbA1C decrease	Illumina [256587]	N
1460	chr10	114758348	114758349	rs7903146	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	10q25.2	TCF7L2	rs7903146-A	0.30	7E-7	(T2D)	1.33	[1.19-1.49]	Illumina [308011]	N
1460	chr10	114758348	114758349	rs7903146	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	10q25.2	TCF7L2	rs7903146-T		2E-51		1.4	[1.34-1.46]	Affymetrix, Illumina [2426886] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	19734900	Rung J	2009-09-06	Nat Genet	Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.	Type 2 diabetes and other traits	679 European ancestry cases, 697 European ancestry controls	5,579 European ancestry cases, 7,096 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.27	1E-30		1.48	[1.39-1.57]	Illumina [392365]	N
1460	chr10	114758348	114758349	rs7903146	19401414	Takeuchi F	2009-04-29	Diabetes	Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.	Type 2 diabetes	519 Japanese ancestry cases, 503 Japanese ancestry controls	5,110 Japanese ancestry cases, 6,867 Japanese ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.04	8E-12		1.54	[1.36-1.74]	Illumina [482625]	N
1460	chr10	114758348	114758349	rs7903146	19056611	Timpson NJ	2008-12-03	Diabetes	Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.	Type 2 diabetes	958 European ancestry obese cases, 955 European ancestry non-obese cases, 2,938 European ancestry controls	Up to 3,757 European ancestry cases, up to 5,346 European ancestry controls	10q25.2	TCF7L2	rs7903146-?	NR	9E-30	(non-obese)	1.49	[1.39-1.59]	Affymetrix [393453]	N
1460	chr10	114758348	114758349	rs7903146	19056611	Timpson NJ	2008-12-03	Diabetes	Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.	Type 2 diabetes	958 European ancestry obese cases, 955 European ancestry non-obese cases, 2,938 European ancestry controls	Up to 3,757 European ancestry cases, up to 5,346 European ancestry controls	10q25.2	TCF7L2	rs7903146-?	NR	6E-16	(obese)	1.31	[1.23-1.40]	Affymetrix [393453]	N
1460	chr10	114758348	114758349	rs7903146	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	NR	3E-23		1.37	[1.28-1.47]	Affymetrix, Illumina [2202892] (imputed)	N
1460	chr10	114758348	114758349	rs7903146	17668382	Salonen JT	2007-06-26	Am J Hum Genet	Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.	Type 2 diabetes	201 Finland founder cases, 200 Finland founder controls, 200 Ashkenazi Jewish cases, 197 Ashkenazi Jewish controls, 99 European ancestry cases, 100 European ancestry controls	2,573 European ancestry cases, 2,776 European ancestry controls	10q25.2	TCF7L2	rs7903146-A	NR	5E-8		1.71	[1.41-2.08]	Illumina [315917]	N
1460	chr10	114758348	114758349	rs7903146	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.18	1E-8		1.34	[1.21-1.49]	Illumina [315635]	N
1460	chr10	114758348	114758349	rs7903146	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Type 2 diabetes	1,464 European ancestry cases, 1,467 European ancestry controls	5,065 European ancestry cases, 5,785 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.26	2E-31		1.38	[1.31-1.46]	Affymetrix [386731]	N
1460	chr10	114758348	114758349	rs7903146	17460697	Steinthorsdottir V	2007-04-26	Nat Genet	A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.	Type 2 diabetes	1,399 European ancestry cases, 5,275 European ancestry controls	2,174 European ancestry cases, 7,287 European ancestry controls	10q25.2	TCF7L2	rs7903146-?	0.30	2E-10		1.38	[NR]	Illumina [at least 313179]	N
1460	chr10	114758348	114758349	rs7903146	17293876	Sladek R	2007-02-11	Nature	A genome-wide association study identifies novel risk loci for type 2 diabetes.	Type 2 diabetes	661 European ancestry cases, 614 European ancestry controls	2,617 European ancestry cases, 2,894 European ancestry controls	10q25.2	TCF7L2	rs7903146-T	0.30	2E-34		1.65	[1.28, 2.02]	Illumina [392935]	N
1460	chr10	114773926	114773927	rs7904519	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	10q25.2	TCF7L2	rs7904519-G	0.46	3E-8		1.06	[1.04-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1460	chr10	114788814	114788815	rs12243326	20081857	Saxena R	2010-01-17	Nat Genet	Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.	Two-hour glucose challenge	15,234 individuals	up to 30,620 European ancestry individuals	10q25.2	TCF7L2	rs12243326-C	NR	1E-7		0.08	[0.06-0.10] mmol/L increase	Affymetrix, Illumina [NR]	N
1461	chr10	114874018	114874019	rs290475	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	10q25.3	NR	rs290475-?	NR	3E-7				NR [up to 8466825] (imputed)	N
1461	chr10	114877866	114877867	rs74157220	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	10q25.3	NR	rs74157220-T	0.031	6E-6		0.267	[0.15-0.38] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1461	chr10	114880550	114880551	rs12772424	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	10q25.3	TCF7L2	rs12772424-?	NR	3E-8				NR [up to 8466825] (imputed)	N
1464	chr10	115235113	115235114	rs1472750	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		10q25.3	intergenic	rs1472750-?	0.075	5E-9			[NR]	Affymetrix, Illumina [152234]	N
1464	chr10	115238763	115238764	rs17770015	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	10q25.3	intergenic	rs17770015-G	0.1	3E-6		1.17	[1.10-1.25]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1464	chr10	115288500	115288501	rs1570271	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	10q25.3	intergenic	rs1570271-?		1E-7	(disease-free survival)	3.66	[2.26-5.94]	Illumina [729737]	N
1466	chr10	115481017	115481018	rs3814231	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	10q25.3	CASP7	rs3814231-G	0.75	4E-8		1.23	[NR]	Illumina [495821]	N
1466	chr10	115515119	115515120	rs3981351	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q25.3	C10orf81	rs3981351-G	0.276	1E-6	(Free T3 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1468	chr10	115756129	115756130	rs82625	22388998	Zhang CK	2012-01-19	Am J Hematol	Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.	Gaucher disease severity	139 Ashkenazi Jewish cases	NA	10q25.3	ADRB1	rs82625-?	NR	2E-6				Illumina [540902]	N
1468	chr10	115781526	115781527	rs2782980	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	10q25.3	ADRB1	rs2782980-T	0.20	2E-9	(Mean Arterial Pressure)	0.338	[0.23-0.45] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1468	chr10	115805055	115805056	rs1801253	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	10q25.3	ADRB1	rs1801253-G	0.26	4E-9		0.041	[0.027-0.055] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
1468	chr10	115814391	115814392	rs10885531	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	10q25.3	NR	rs10885531-T	NR	4E-6		0.02	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1471	chr10	116139028	116139029	rs4751674	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	10q25.3	AFAP1L2	rs4751674-?	NR	4E-6	(PC1)			Illumina [up to 563855]	N
1471	chr10	116199174	116199175	rs941853	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q25.3	ABLIM1	rs941853-A	0.189	6E-6	(BMI z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
1472	chr10	116327549	116327550	rs10885582	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	10q25.3	ABLIM1	rs10885582-?	NR	4E-6	(rs1447295)	1.3699	[1.20-1.59]	Affymetrix, Illumina [1117531] (imputed)	N
1481	chr10	117512587	117512588	rs10490919	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	10q25.3	ATRNL1	rs10490919-T	0.46	2E-6	(digit symbol)	0.12	[0.06-0.18] unit decrease	Illumina [~ 610000]	N
1483	chr10	117824887	117824888	rs2302105	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q25.3	NR	rs2302105-C	0.768104532915361	4E-6	(IGP50)	0.1688	[0.097-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
1485	chr10	117973596	117973597	rs12413355	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	10q25.3	intergenic	rs12413355-?	0.78	3E-6		1.14	[1.08-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1485	chr10	118017963	118017964	rs140018268	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10q25.3	NR	rs140018268-?	NR	2E-6	(EA)	0.6172	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1485	chr10	118044737	118044738	rs146173241	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	10q25.3	GFRA1, CCDC172	rs146173241-?	0.02	1E-7		7.3	[NR]	Affymetrix [4893794] (imputed)	N
1487	chr10	118298705	118298706	rs12249434	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	10q25.3	PNLIP, PNLIPRP1	rs12249434-A	0.088	4E-6	(Temperament)	0.22	[NR] unit increase	Affymetrix [677643]	N
1488	chr10	118397970	118397971	rs10885997	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	10q25.3	PNLIPRP2	rs10885997-?	NR	8E-9	(proportions)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
1488	chr10	118466041	118466042	rs1014246	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	10q25.3	HSPA12A	rs1014246-T	0.3	6E-6		0.04	unit increase	Illumina [~ 6300000] (imputed)	N
1488	chr10	118487099	118487100	rs1665650	23263487	Jia WH	2012-12-23	Nat Genet	Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.	Colorectal cancer	2,098 East Asian ancestry cases, 5,749 East Asian ancestry controls	5,358 East Asian ancestry cases, 5,922 East Asian ancestry controls, 26,060 European ancestry individuals	10q25.3	HSPA12A	rs1665650-T	0.315	9E-7	(East Asian)	1.13	[1.08-1.19]	Affymetrix, Illumina [1636380] (imputed)	N
1489	chr10	118575605	118575606	rs740363	17903304	Larson MG	2007-09-19	BMC Med Genet	Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.	Heart failure	75 cases and 1,272 controls from 310 families	NA	10q25.3	KIAA1598	rs740363-?	NR	9E-6				Affymetrix [70897]	N
1491	chr10	118827559	118827560	rs7078160	25775280	Sun Y	2015-03-16	Nat Commun	Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.	Nonsyndromic cleft lip with or without cleft palate	858 Chinese ancestry cases, 1,248 Chinese ancestry controls	1,663 Chinese ancestry cases,  1,874 Chinese ancestry controls	10q25.3	VAX1	rs7078160-A	NR	3E-10		1.29	[1.19-1.39]	Affymetrix [842556]	N
1491	chr10	118827559	118827560	rs7078160	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	10q25.3	NR	rs7078160-A	NR	6E-10	(Meta-All, NSCLP)			NR [497084]	N
1491	chr10	118827559	118827560	rs7078160	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	10q25.3	NR	rs7078160-A	NR	4E-11	(Meta-All, NSCL/P)	1.383	[1.213-1.576]	NR [497084]	N
1491	chr10	118827559	118827560	rs7078160	20023658	Mangold E	2009-12-20	Nat Genet	Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.	Orofacial clefts	399 European ancestry cases, 1,318 European ancestry controls	655 European ancestry triads	10q25.3	KIAA1598, VAX1	rs7078160-A	0.16	2E-8		1.36	[1.21-1.53]	Illumina [521288]	N
1494	chr10	119181870	119181871	rs181500	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	10q26.11	intergenic	rs181500-T	NR	5E-6		1.24	[NR]	Affymetrix [745006]	N
1494	chr10	119193152	119193153	rs758569	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	10q26.11	EMX2OS	rs758569-A	0.3616	4E-6		0.8017	[NR] unit increase	Illumina [1216074] (imputed)	N
1494	chr10	119210374	119210375	rs6585436	22683750	Sinner MF	2012-06-06	Heart Rhythm	A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.	Cardiac repolarization	7,482 European ancestry individuals	7,151 European ancestry individuals	10q26.11	PDZD8, EMX2	rs6585436-C	0.983	6E-6		2.08	[1.52-2.86]	Affymetrix, Illumina [2523555] (imputed)	N
1494	chr10	119227341	119227342	rs4752066	23541324	Li X	2013-03-27	J Allergy Clin Immunol	Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.	Pulmonary function in asthmatics	1,544 European ancestry individuals		10q26.11	EMX2	rs4752066-T	0.10	6E-7	(ppFEV1)	0.3	[NR] unit decrease	Illumina [369771]	N
1494	chr10	119253737	119253738	rs11198013	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	10q26.11	NR	rs11198013-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1495	chr10	119336745	119336746	rs384627	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.11	EMX2	rs384627-A	0.0060	5E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1495	chr10	119379655	119379656	rs181654	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	10q26.11	EMX2	rs181654-?	0.72	1E-7	(no asthma)	0.81		Affymetrix, Illumina [up to 2500000] (imputed)	N
1496	chr10	119418103	119418104	rs2184898	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	10q26.11	intergenic	rs2184898-A	0.327	3E-6		1.33	[1.18-1.50]	Illumina [948658]	N
1496	chr10	119533756	119533757	rs7088969	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	10q26.11	EMX2, RAB11FIP2	rs7088969-T	0.312	3E-8	(n-6 PUFA)			Affymetrix [590000]	N
1497	chr10	119604937	119604938	rs1925265	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	10q26.11	intergenic	rs1925265-G		5E-6		0.2912	unit decrease	Illumina [5767231] (imputed)	N
1497	chr10	119613609	119613610	rs10886159	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	10q26.11	EMX2OS, RAB11FIP2, EMX2	rs10886159-C		7E-7				Illumina [944512] (imputed)	N
1497	chr10	119647255	119647256	rs17642749	24824216	Myers RA	2014-05-13	Hum Mol Genet	Genome-wide interaction studies reveal sex-specific asthma risk alleles.	Asthma (sex interaction)	1,052 European ancestry male cases, 1,019 European ancestry female cases, 709 European ancestry male controls, 826 European ancestry female controls, 675 African American/African Caribbean male cases, 837 African American/African Caribbean female cases, 577 African American/African Caribbean male controls, 926 African American/African Caribbean female controls, 926 Latino male cases, 710 Latino female cases, 410 Latino male controls, 382 Latino female controls	NA	10q26.11	RAB11FIP2	rs17642749-G	0.086	4E-7	(African American/African Caribbean, male)	2.97	[1.90-4.63]	Affymetrix, Illumina [~ 2100000] (imputed)	N
1502	chr10	120278943	120278944	rs12413624	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	10q26.11	PRLHR	rs12413624-T	0.37	5E-11		1.23	[1.16-1.31]	Affymetrix [666141]	N
1507	chr10	120966338	120966339	rs1397615	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.11	GRK5	rs1397615-A	0.044	2E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1509	chr10	121149402	121149403	rs10886471	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	10q26.11	GRK5	rs10886471-C	0.778	7E-9		1.12	[1.08-1.16]	Illumina [2234194] (imputed)	N
1511	chr10	121429632	121429633	rs2234962	21459883	Villard E	2011-04-01	Eur Heart J	A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.	Dilated cardiomyopathy	1,179 European ancestry cases, 1,108 European ancestry controls	1,165 European ancestry cases, 1,302 European ancestry controls	10q26.11	BAG3	rs2234962-?	NR	4E-12		1.52	[1.22-1.89]	Illumina [517382]	N
1512	chr10	121536326	121536327	rs117896735	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	10q26.11	INPP5F	rs117896735-A	0.014	4E-13		1.624	[1.49-1.76]	Illumina [7893274] (imputed)	N
1513	chr10	121665772	121665773	rs2456721	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	10q26.12	SEC23IP	rs2456721-?		5E-6		0.266	[NR] unit decrease	Illumina [5970354] (imputed)	N
1513	chr10	121708928	121708929	rs12571664	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	10q26.12	SEC23IP	rs12571664-T	0.79	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1514	chr10	121821537	121821538	rs17621444	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q26.12	NR	rs17621444-C	0.722329589937667	3E-6	(IGP31)	0.164	[0.095-0.233] unit increase	Illumina [~ 2500000] (imputed)	N
1516	chr10	122043488	122043489	rs11199254	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q26.12	NR	rs11199254-C	0.994468962750716	2E-6	(IGP40)	1.5588	[0.91-2.21] unit increase	Illumina [~ 2500000] (imputed)	N
1516	chr10	122043488	122043489	rs11199254	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q26.12	NR	rs11199254-C	0.994452838362069	3E-6	(IGP39)	1.5568	[0.9-2.21] unit increase	Illumina [~ 2500000] (imputed)	N
1517	chr10	122279475	122279476	rs118048115	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		10q26.12	PPAPDC1A	rs118048115-?	0.04	6E-7		0.34	unit decrease	Illumina [NR] (imputed)	N
1519	chr10	122522380	122522381	rs12261764	25140149	Hohman TJ	2014-08-04	Front Aging Neurosci	Genetic variation modifies risk for neurodegeneration based on biomarker status.	Left inferior lateral ventricle volume (Cerebrospinal fluid biomarker status interaction)	382 European ancestry mild cognitive impairment cases, 114 European ancestry Alzheimer's disease cases, 194 European ancestry controls	NA	10q26.12	WDR11-AS1	rs12261764-?		1E-7	(Dilation, tau positive)	5.55	[NR] unit increase interaction	Illumina [296267]	N
1520	chr10	122591372	122591373	rs2919009	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.12	BRWD2, WDR11	rs2919009-A	0.12	5E-6	(Diet protein )	0.04	[NR] %energy increase	Illumina [899892]	N
1521	chr10	122720973	122720974	rs4752485	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	10q26.12	intergenic	rs4752485-?	NR	7E-6	(FEV1 decline in non-asthmatics)	0.148	[0.083-0.213] unit decrease	Illumina [~ 2500000] (imputed)	N
1521	chr10	122802505	122802506	rs2420903	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	10q26.12	BRWD2, LOC100129699	rs2420903-A	0.3691	6E-6	(Yun)	0.4386	unit decrease	Illumina [up to 528294]	N
1522	chr10	122900622	122900623	rs2901286	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	10q26.12	intergenic	rs2901286-A	NR	4E-6		4.66	[1.58-13.7]	Affymetrix [476796]	N
1522	chr10	122939373	122939374	rs7085142	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	10q26.12	BRWD2	rs7085142-T	0.37	6E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1522	chr10	122945085	122945086	rs3943077	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	10q26.12	WDR11, FGFR2	rs3943077-A	0.567	3E-14		0.07	[0.050-0.090] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1523	chr10	123032518	123032519	rs11199874	22130093	Nam RK	2011-12-01	Cancer Biol Ther	New variants at 10q26 and 15q21 are associated with aggressive prostate cancer in a genome-wide association study from a prostate biopsy screening cohort.	Prostate cancer	316 cases, 229 controls	55 Asian ancestry cases, 134 Asian ancestry controls, 1,382 European ancestry cases, 1,428 European ancestry controls, 184 Black cases, 127 Black controls, 42 cases, 87 controls	10q26.12	intergenic	rs11199874-?	NR	3E-10				Affymetrix [443816]	N
1523	chr10	123033548	123033549	rs10788160	21160077	Gudmundsson J	2010-12-15	Sci Transl Med	Genetic correction of PSA values using sequence variants associated with PSA levels.	Serum prostate-specific antigen levels	7,538 European ancestry individuals	2,373 European ancestry individuals	10q26.12	FGFR2	rs10788160-A	0.31	5E-15		10.2	[NR] % increase	Illumina [304070]	N
1524	chr10	123093900	123093901	rs11199914	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	10q26.12	intergenic	rs11199914-C	0.68	2E-8		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1524	chr10	123120035	123120036	rs17601696	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	10q26.12	intergenic	rs17601696-T	0.08163	5E-8		4.75	[2.72-8.32]	Illumina [4196861] (imputed)	N
1525	chr10	123277868	123277869	rs3135758	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	10q26.13	NR	rs3135758-A	NR	2E-6	(EA)	0.05774	(-0.08136--0.03413) mg/dl decrease	Illumina [up to 509150]	N
1525	chr10	123280657	123280658	rs3135753	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Gout	2,115 European ancestry cases, 67,259 European ancestry controls	1,036 European ancestry cases	10q26.13	NR	rs3135753-T	0.9897	9E-7		1.0717	[0.65-1.49] unit decrease	Affymetrix, Illumina [2538056] (imputed)	N
1525	chr10	123332576	123332577	rs3750817	22951594	Elgazzar S	2012-09-06	J Hum Genet	A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.	Breast cancer	1,086 Japanese ancestry cases, 1,816 Japanese ancestry controls	1,653 Japanese ancestry cases, 2,797 Japanese ancestry controls	10q26.13	FGFR2	rs3750817-T	0.49	8E-8		1.22	[NR]	Illumina [453627]	N
1525	chr10	123337116	123337117	rs2912780	25956309	Palomba G	2015-05-10	BMC Cancer	Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.	Breast cancer	1,367 Sardinian cases, 1,658 Sardinian controls	201 Sardinian cases, 1,467 Sardinian controls, 61,485 European ancestry cases, 60,860 European ancestry controls	10q26.13	FGFR2	rs2912780-?	0.506	4E-6		1.302	(1.164-1.456)	Affymetrix [2067645] (imputed)	N
1525	chr10	123337334	123337335	rs2981579	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	10q26.13	FGFR2	rs2981579-A	0.4	2E-170		1.27	[1.24-1.29]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1525	chr10	123337334	123337335	rs2981579	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	10q26.13	FGFR2	rs2981579-A	0.42	4E-31		1.43	[1.35-1.53]	Illumina [582886]	N
1525	chr10	123337334	123337335	rs2981579	19330030	Thomas G	2009-03-29	Nat Genet	A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).	Breast cancer	1,145 European ancestry cases, 1,142 European ancestry controls	8,625 European ancestry cases, 9,657 European ancestry controls	10q26.13	FGFR2	rs2981579-T	0.41	2E-10		1.17	[1.07-1.27] (Het)	Illumina [528173]	N
1526	chr10	123338974	123338975	rs1078806	23354978	Rinella ES	2013-01-25	Hum Genet	Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.	Breast cancer	477 Ashkenazi Jewish cases, 524 Ashkenazi Jewish controls	203 Ashkenazi Jewish cases, 263 Ashkenazi Jewish contols	10q26.13	FGFR2	rs1078806-C	0.39	2E-6	(Pooled P value)	1.43	[NR]	Affymetrix [435632]	N
1526	chr10	123340310	123340311	rs2981578	24143190	Low SK	2013-10-15	PLoS One	Genome-wide association study of breast cancer in the Japanese population.	Breast cancer	2,642 Japanese ancestry cases, 2,099 Japanese ancestry controls	2,885 Japanese ancestry cases, 3,395 Japanese ancestry controls	10q26.13	FGFR2	rs2981578-C	0.514	1E-12		1.225	[1.158-1.296]	Illumina [5335291] (imputed)	N
1526	chr10	123346115	123346116	rs2981575	21060860	Gaudet MM	2010-10-28	PLoS Genet	Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.	Breast cancer in BRCA2 mutation carriers	899 European ancestry cases, 804 European ancestry controls	1,264 European ancestry cases, 1,222 European ancestry controls	10q26.13	FGFR2	rs2981575-?	0.42	1E-8		1.28	[1.18-1.39]	Affymetrix [592163]	N
1526	chr10	123346189	123346190	rs1219648	21263130	Fletcher O	2011-01-24	J Natl Cancer Inst	Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.	Breast cancer	2,839 European ancestry cases, 3,507 European ancestry controls	9,041 European ancestry cases, 8,980 European ancestry controls	10q26.13	FGFR2	rs1219648-?	0.42	1E-30		1.31	[1.25-1.37]	Illumina [~ 296114]	N
1526	chr10	123346189	123346190	rs1219648	20872241	Li J	2010-09-26	Breast Cancer Res Treat	A combined analysis of genome-wide association studies in breast cancer.	Breast cancer	2,702 European ancestry female cases, 5,726 European ancestry controls	Up to 7,386 cases, 7,576 controls	10q26.13	FGFR2	rs1219648-G	0.42	2E-13		1.32	[1.22-1.42]	Illumina [285984]	N
1526	chr10	123346189	123346190	rs1219648	17529973	Hunter DJ	2007-05-27	Nat Genet	A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.	Breast cancer	1,145 European ancestry cases, 1,142 European ancestry controls	874 European ancestry cases, 1,478 European ancestry controls, 302 cases, 594 controls	10q26.13	FGFR2	rs1219648-G	0.40	1E-10		1.2	[1.07-1.42]	Illumina [528173]	N
1526	chr10	123348661	123348662	rs2912774	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	10q26.13	FGFR2	rs2912774-?	0.44	3E-27		1.29	[1.23-1.35]	Illumina [1265548] (imputed)	N
1526	chr10	123352316	123352317	rs2981582	17529967	Easton DF	2007-05-27	Nature	Genome-wide association study identifies novel breast cancer susceptibility loci.	Breast cancer	390 cases,364 controls	26,646 cases,24,889 controls	10q26.13	FGFR2	rs2981582-A	0.38	2E-76		1.26	[1.23-1.30]	Perlegen [205586]	N
1528	chr10	123625189	123625190	rs10510102	21263130	Fletcher O	2011-01-24	J Natl Cancer Inst	Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.	Breast cancer	2,839 European ancestry cases, 3,507 European ancestry controls	9,041 European ancestry cases, 8,980 European ancestry controls	10q26.13	FGFR2	rs10510102-G	0.17	2E-6		1.12	[1.07-1.17]	Illumina [~ 296114]	N
1529	chr10	123851826	123851827	rs11200392	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.13	TACC2	rs11200392-A	0.368	3E-6	(Height change )	0.04	[NR] cm/y increase	Illumina [899892]	N
1530	chr10	123901963	123901964	rs10788251	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	10q26.13	NR	rs10788251-C	NR	4E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1530	chr10	123913329	123913330	rs17103138	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		10q26.13	TACC2	rs17103138-?	0.086	2E-7			[NR]	Affymetrix, Illumina [152234]	N
1532	chr10	124165614	124165615	rs6585827	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	10q26.13	PLEKHA1	rs6585827-G	0.43	2E-6		0.05	[0.03-0.07] cm decrease	Illumina [420885]	N
1532	chr10	124192429	124192430	rs10510110	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	10q26.13	PLEKHA1	rs10510110-C		1E-7		1.05	[1.03-1.07]	Affymetrix, Illumina [2500000] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	10q26.13	ARMS2, HTRA1	rs10490924-?	NR	1E-103		2.42	[NR]	Illumina [4471719] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	10q26.13	ARMS2, BTBD16, HTRA, PLEKHA1	rs10490924-A	0.35	8E-27		2.28	[1.96-2.65]	Affymetrix [2543887] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	10q26.13	ARMS2, HTRA1	rs10490924-T	0.3	4E-540		2.76	[2.72-2.80]	Affymetrix, Illumina [2442884] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	10q26.13	ARMS2, HTRA1	rs10490924-T	.206	7E-47		2.52	[2.24-2.83]	Affymetrix, Illumina [6036699] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	10q26.13	ARMS2, HTRA1	rs10490924-T	0.206	2E-138		3.67	[3.33-4.05]	Affymetrix, Illumina [6036699] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV vs. GA)	1,775 European ancestry choroidal neovascularization cases, 819 European ancestry geographic atrophy cases,	4,515 European and unknown ancestry choroidal neovascularization cases, 868 European and unknown ancestry geographic atrophy cases	10q26.13	ARMS2, HTRA1	rs10490924-T	0.438	7E-14		1.38	[NR]	Affymetrix, Illumina [6036699] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	10q26.13	ARMS2, HTRA1	rs10490924-T	0.21	3E-72		3.0	[2.64-3.40]	Illumina [2272849] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	10q26.13	HTRA1	rs10490924-T	0.21	4E-322		2.94	[NR]	Affymetrix [6036699] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	20861866	Kopplin LJ	2010-09-23	Genes Immun	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Age-related macular degeneration	684 European ancestry cases, 188 European ancestry controls	1,896 European ancestry cases, 1,866 European ancestry controls	10q26.13	ARMS2, HTRA1	rs10490924-T	NR	1E-60		2.75	[NR]	Affymetrix [> 361556] (imputed)	N
1532	chr10	124214447	124214448	rs10490924	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	10q26.13	ARMS2, HTRA1	rs10490924-?	NR	5E-119				Affymetrix [632932]	N
1532	chr10	124215314	124215315	rs3750848	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (extreme sampling)	720 European ancestry grade 5 cases, 513 European ancestry grade 1 controls	70 European ancestry grade 5 cases, 73 European ancestry grade 1 controls	10q26.13	ARMS2, BTBD16, PLEKHA1, HTRA1	rs3750848-C	0.37	3E-29		3.12	[2.55-3.80]	Affymetrix [2543887] (imputed)	N
1532	chr10	124219274	124219275	rs3793917	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	10q26.13	ARMS2, HTRA1	rs3793917-?	0.26	1E-25		1.39	[1.32-1.49]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1532	chr10	124219274	124219275	rs3793917	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	10q26.13	ARMS2, HTRA1	rs3793917-?	0.2	4E-24	(EA)	1.45	[1.35-1.56]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1532	chr10	124219274	124219275	rs3793917	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	10q26.13	ARMS2, HTRA1	rs3793917-G	0.164	4E-60		3.4	[2.94-3.94]	Illumina [~ 2500000] (imputed)	N
1532	chr10	124220543	124220544	rs11200638	17053108	Dewan A	2006-10-19	Science	HTRA1 promoter polymorphism in wet age-related macular degeneration.	Age-related macular degeneration (wet)	96 South East Asian ancestry cases, 130 South East Asian ancestry controls	NA	10q26.13	HTRA1	rs11200638-A	NR	8E-12		1.6	[0.71-3.61]	Affymetrix [97824]	N
1534	chr10	124514137	124514138	rs10794613	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Smoking cessation in chronic obstructive pulmonary disease	1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases	NA	10q26.13	FLJ46361	rs10794613-G	0.21	3E-6		1.43		Illumina [~ 6300000] (imputed)	N
1536	chr10	124729875	124729876	rs7069346	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	10q26.13	intergenic	rs7069346-T	0.3	3E-6		1.11	[1.06-1.16]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1537	chr10	124860025	124860026	rs7078209	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	10q26.13	intergenic	rs7078209-G	0.6751	8E-6	(Ordinal I)	0.2658	[0.15-0.38] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1537	chr10	124860025	124860026	rs7078209	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	10q26.13	intergenic	rs7078209-G	0.6747	5E-6	(Ordinal II)	0.2772	[0.16-0.4] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1537	chr10	124860025	124860026	rs7078209	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	10q26.13	intergenic	rs7078209-G	0.6744	4E-6	(Case/control)	0.2812	[0.16-0.4] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1537	chr10	124887124	124887125	rs61862032	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	10q26.13	HMX3	rs61862032-T	0.98	9E-6	(Age 20-60 years)	0.1957	[0.11-0.28] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1538	chr10	124969000	124969001	rs12411769	25562672	Byrne EM	2014-12-09	J Clin Psychiatry	Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.	Seasonality	3,269 European ancestry individuals	887 Old order Amish individuals	10q26.13	OTTHUMG00000019196	rs12411769-A	NR	2E-6		1.78	[1.04-2.52] unit decrease	Affymetrix, Illumina [2354422] (imputed)	N
1538	chr10	124988152	124988153	rs11597068	24045676	Pyun JA	2013-09-16	Menopause	Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population.	Menopause (age at onset)	1,827 Korean ancestry females	NA	10q26.13	RPS26P39, BUB3	rs11597068-G	0.939	1E-7		1.37	[0.86-1.88] unit increase	Affymetrix [343107]	N
1540	chr10	125207500	125207501	rs17666963	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	10q26.13	GPR26	rs17666963-T	NR	9E-6	(Dichotomous variable)	2.28	[1.58-3.28]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1540	chr10	125208558	125208559	rs11248534	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	10q26.13	NR	rs11248534-T	0.229	5E-7	(Trans/trans-18:2, EA)	0.0023	[0.0013-0.0033] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1540	chr10	125226177	125226178	rs705145	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	10q26.13	GPR26	rs705145-C	0.638	1E-21		0.051	[0.041-0.062] unit decrease	Illumina [7428049] (imputed)	N
1540	chr10	125251674	125251675	rs705162	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10q26.13	intergenic	rs705162-A	0.26	3E-6		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1542	chr10	125515828	125515829	rs1896376	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Smoking cessation in chronic obstructive pulmonary disease	1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases	NA	10q26.13	CPMX2	rs1896376-C	0.95	6E-6		1.83		Illumina [~ 6300000] (imputed)	N
1542	chr10	125517079	125517080	rs4246949	25082827	Julia A	2014-07-31	Hum Mol Genet	A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.	Ulcerative colitis	up to 7,483 European ancestry cases, up to 21,211 European ancestry controls	1,073 European ancestry cases, 1,279 European ancestry controls	10q26.13	CPXM2	rs4246949-?	0.77	7E-6	(Southern European)	1.22	[1.05-1.41]	Illumina [546271]	N
1546	chr10	125986897	125986898	rs11818084	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	10q26.13	intergenic	rs11818084-?	NR	8E-6	(AUC)			NR [2092490]	N
1547	chr10	126144178	126144179	rs2459210	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	10q26.13	LHPP	rs2459210-T	0.34	9E-6	(PS levels)	4.35	[2.43-6.27] iu/ml increase	Illumina [472123]	N
1547	chr10	126144838	126144839	rs908366	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)	83 Japanese ancestry cases, 370 Japanese ancestry controls	NA	10q26.13	LHPP	rs908366-A	0.328	7E-6	(Allelic model)	2.199	[1.564-3.092]	Illumina [733202]	N
1548	chr10	126275913	126275914	rs12773846	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	10q26.13	LHPP	rs12773846-G	0.70	7E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1548	chr10	126294166	126294167	rs3740540	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.13	LHPP	rs3740540-A	0.287	5E-6	(Sitting height )	0.03	[NR] cm increase	Illumina [899892]	N
1549	chr10	126426147	126426148	rs2629540	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	10q26.13	FAM53B	rs2629540-?	NR	4E-8	(Symptom count)			Illumina [37426733] (imputed)	N
1549	chr10	126426147	126426148	rs2629540	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	10q26.13	FAM53B	rs2629540-?	NR	1E-6	(Symptom count, AA)			Illumina [37426733] (imputed)	N
1549	chr10	126438018	126438019	rs10510138	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.13	FAM53B, METTL10	rs10510138-A	0.052	8E-6	(TSH )	0.02	[NR] uIU/mL increase	Illumina [899892]	N
1551	chr10	126649515	126649516	rs17152411	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	10q26.13	ZRANB1	rs17152411-A	0.75	2E-7		0.019	[0.0053-0.0327] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1551	chr10	126696871	126696872	rs4962416	18264096	Thomas G	2008-02-10	Nat Genet	Multiple loci identified in a genome-wide association study of prostate cancer.	Prostate cancer	1,172 European ancestry cases, 1,157 European ancestry controls	3,941 European ancestry cases, 3,964 European ancestry controls	10q26.13	CTBP2	rs4962416-C	0.27	2E-7		1.17	[1.05-1.30]	Illumina [527869]	N
1551	chr10	126703348	126703349	rs3781426	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	10q26.13	CTBP2	rs3781426-T	0.31	9E-8		0.019	[0.0053-0.0327] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1551	chr10	126739337	126739338	rs718948	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q26.13	CTBP2	rs718948-C	0.342	2E-6	(EA)	0.016	[0.0097-0.0231] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1551	chr10	126739337	126739338	rs718948	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q26.13	CTBP2	rs718948-C	0.338	1E-6		0.016	[0.0096-0.0226] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1552	chr10	126846213	126846214	rs1915146	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	10q26.13	CTBP2	rs1915146-G	0.4	4E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1553	chr10	126916122	126916123	rs9422860	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10q26.13	NR	rs9422860-?	NR	1E-7	(Japanese)	0.6912	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1554	chr10	127135837	127135838	rs989507	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.13	intergenic	rs989507-A	0.188	2E-6	(Urinary creatinine )	0.03	[NR] mmol/d increase	Illumina [899892]	N
1559	chr10	127699935	127699936	rs10901513	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	10q26.2	ADAM12, FANK1	rs10901513-T	0.60	6E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1559	chr10	127738917	127738918	rs1710278	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	10q26.2	NR	rs1710278-?	NR	9E-6		7.339	[4.24-10.44] unit decrease	Illumina [498648]	N
1559	chr10	127773375	127773376	rs1278352	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	10q26.2	ADAM12	rs1278352-?	NR	1E-6				Perlegen [1871025] (imputed)	N
1560	chr10	127823150	127823151	rs1278329	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	10q26.2	ADAM12	rs1278329-G		8E-6		0.2671	unit decrease	Illumina [5767231] (imputed)	N
1560	chr10	127829011	127829012	rs1551678	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	10q26.2	ADAM12	rs1551678-C	0.37	9E-6	(EA-glucose response)	2.65	[1.49-3.81] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1560	chr10	127846668	127846669	rs12778749	24096698	De Vivo I	2013-10-06	Hum Genet	Genome-wide association study of endometrial cancer in E2C2.	Endometrial cancer	up to 2,695 European ancestry cases, up to 2,777 European ancestry controls	up to 3,235 cases, up to 12,059 controls	10q26.2	ADAM12	rs12778749-?	NR	9E-6	(European, All type I)			Illumina [873935]	N
1560	chr10	127846668	127846669	rs12778749	24096698	De Vivo I	2013-10-06	Hum Genet	Genome-wide association study of endometrial cancer in E2C2.	Endometrial cancer	up to 2,695 European ancestry cases, up to 2,777 European ancestry controls	up to 3,235 cases, up to 12,059 controls	10q26.2	ADAM12	rs12778749-?	NR	8E-6	(European, Endometroid subtype)			Illumina [873935]	N
1563	chr10	128267639	128267640	rs11245052	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	10q26.2	C10orf90	rs11245052-A		2E-6		0.3034	unit decrease	Illumina [5767231] (imputed)	N
1564	chr10	128373706	128373707	rs10736877	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	10q26.2	C10orf90	rs10736877-A	0.51	2E-8	(AA)	0.131	[0.086-0.176] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1564	chr10	128419983	128419984	rs7078439	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	10q26.2	C10orf90, DOCK1	rs7078439-?	NR	8E-8	(FEV1/FVC < 80%)	0.044	[NR] unit increase	Illumina [522636]	N
1564	chr10	128419983	128419984	rs7078439	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	10q26.2	C10orf90, DOCK1	rs7078439-?	NR	8E-6		0.034	[NR] unit increase	Illumina [522636]	N
1564	chr10	128423872	128423873	rs10794108	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	10q26.2	C10orf90, DOCK1	rs10794108-?	NR	9E-6	(Males only)	0.037	[NR] unit increase	Illumina [522636]	N
1567	chr10	128771833	128771834	rs115536975	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10q26.2	NR	rs115536975-?	NR	3E-7	(Native Hawaiian)	1.0725	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1567	chr10	128777389	128777390	rs9733352	23031429	Surakka I	2012-10-03	Twin Res Hum Genet	A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.	Apolipoprotein Levels	1,720 European ancestry monozygotic twins	NA	10q26.2	DOCK1	rs9733352-C	NR	4E-8	(APOA2)	0.06	[0.038-0.082] unit increase	Illumina [~ 2500000] (imputed)	N
1567	chr10	128790442	128790443	rs11592657	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	10q26.2	NR	rs11592657-A	NR	7E-6		1.27	[NR]	Illumina [up to 9792010] (imputed)	N
1567	chr10	128797716	128797717	rs2275540	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	10q26.2	DOCK1	rs2275540-?		4E-6				Affymetrix, Illumina [1348798]	N
1569	chr10	129043309	129043310	rs11819364	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	10q26.2	DOCK1	rs11819364-C	0.03	9E-6	(Age 17)	0.32	[0.18-0.46] unit increase	Illumina [2293137] (imputed)	N
1570	chr10	129142416	129142417	rs751008	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q26.2	DOCK1	rs751008-A	0.456	7E-7	(EA)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1570	chr10	129142416	129142417	rs751008	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	10q26.2	DOCK1	rs751008-A	0.453	2E-6		0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1571	chr10	129274502	129274503	rs4363506	17362836	Schymick JC	2007-02-20	Lancet Neurol	Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.	Amyotrophic lateral sclerosis	276 European ancestry cases, 271 European ancestry controls	NA	10q26.2	intergenic	rs4363506-?	NR	7E-7		1.9	[1.50-2.40]	Illumina [549062]	N
1574	chr10	129678673	129678674	rs6482992	22658654	Chung SJ	2012-05-30	Parkinsonism Relat Disord	Genomic determinants of motor and cognitive outcomes in Parkinson's disease.	Parkinson's disease (motor and cognition)	443 European ancestry cases	NA	10q26.2	CLRN3	rs6482992-?	NR	4E-6	(congnitive outcome)	2.03	[1.47-2.79]	NR [198345]	N
1574	chr10	129737630	129737631	rs12049671	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	10q26.2	PTPRE	rs12049671-?	NR	7E-6	(SF10)			Affymetrix [5476100] (imputed)	N
1576	chr10	129933455	129933456	rs2387326	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	10q26.2	PTPRE, MKI67	rs2387326-?	NR	1E-6	(VitKPhylloq)			Affymetrix [70897]	N
1576	chr10	129998371	129998372	rs1329189	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	10q26.2	intergenic	rs1329189-?	0.62	5E-6	(CLP)	1.3	[1.47-1.16]	Illumina [NR]	N
1577	chr10	130137104	130137105	rs11818629	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	10q26.2	intergenic	rs11818629-?	NR	3E-6	(progression)			Illumina [NR]	N
1578	chr10	130233807	130233808	rs10764775	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	10q26.2	NR	rs10764775-C	0.340436585930543	6E-6	(IGP31)	0.1435	[0.081-0.206] unit increase	Illumina [~ 2500000] (imputed)	N
1578	chr10	130248925	130248926	rs9804317	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	10q26.2	RP11-264E18.1	rs9804317-?	NR	7E-6	(Animals)			Illumina [up to 563855]	N
1579	chr10	130346153	130346154	rs61310603	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	10q26.2	MKI67, MGMT	rs61310603-T	0.84	8E-6		1.1904762	[1.11-1.3]	NR [NR]	N
1579	chr10	130369489	130369490	rs749141	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	10q26.2	NR	rs749141-C	0.076	4E-7		0.196	[0.12-0.27] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1579	chr10	130383237	130383238	rs193189882	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	10q26.2	intergenic	rs193189882-A	0.009	2E-6		0.71	[0.42-1] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1580	chr10	130442180	130442181	rs1575951	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	10q26.2	LINC01163	rs1575951-?		4E-6				Illumina [5970354] (imputed)	N
1583	chr10	130874124	130874125	rs4751058	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	10q26.3	MKLN1	rs4751058-A	0.16	5E-6	(Age 6)	1.06	[1.04-1.09] unit increase	Illumina [2461244] (imputed)	N
1586	chr10	131234371	131234372	rs2388328	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	10q26.3	MGMT	rs2388328-C		5E-6		0.07	[0.04-0.09] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1586	chr10	131265544	131265545	rs16906252	26183928	Leng S	2015-07-16	Cancer Res	Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.	MGMT methylation in smokers	296  European ancestry individuals with MGMT methylation, 867 European ancestry individuals without MGMT methylation	107 European and Hispanic individuals with MGMT methylation, 323 European and Hispanic individuals without MGMT methylation	10q26.3	MGMT	rs16906252-?	NR	4E-31				Illumina [1599980]	N
1587	chr10	131426021	131426022	rs477692	23047291	Brown CC	2012-11-01	Pharmacogenet Genomics	A genome-wide association analysis of temozolomide response using lymphoblastoid cell lines shows a clinically relevant association with MGMT.	Response to temozolomide	516 European ancestry lymphoblastoid cell lines	NA	10q26.3	MGMT	rs477692-?	NR	1E-8				Illumina [2074734] (imputed)	N
1588	chr10	131481272	131481273	rs80312298	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	10q26.3	MGMT	rs80312298-?	NR	6E-7	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
1588	chr10	131500939	131500940	rs11016883	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	10q26.3	MGMT	rs11016883-C	0.25	9E-7	(AA, Smoking, Ever/Never)	0.01	[0.01-0.02] unit increase	Affymetrix [706791]	N
1589	chr10	131673985	131673986	rs9804200	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep time	2,322 European ancestry individuals	NA	10q26.3	EBF3	rs9804200-C	0.3	6E-6		8.39	[4.74-12.04] unit increase	Illumina [2380486] (imputed)	N
1591	chr10	131984311	131984312	rs10741210	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	10q26.3	GLRX3	rs10741210-G	0.58	9E-6		1.22	[1.14-1.3]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
1592	chr10	131992244	131992245	rs4751178	19786962	Roeske D	2009-09-29	Mol Psychiatry	First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children.	Speech perception in dyslexia	200 European ancestry cases	186 European ancestry cases	10q26.3	NR	rs4751178-G	NR	7E-6	(MMNb)			Illumina [297086]	N
1592	chr10	132056414	132056415	rs4751185	21160409	Petrovski S	2010-12-14	AIDS	Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.	HIV-1 susceptibility	531 Sub-Saharan African ancestry cases, 848 Sub-Saharan African ancestry controls	NA	10q26.3	GLRX3, TXNL3	rs4751185-?	0.12	7E-6				Illumina [~ 800000]	N
1593	chr10	132168064	132168065	rs11017221	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	10q26.3	intergenic	rs11017221-T	0.13	1E-7		1.09	[1.06-1.12]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1594	chr10	132347099	132347100	rs11017328	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	10q26.3	AL355500.2	rs11017328-?		3E-7	(EA, Inherited)	2.87	[1.88-4.40]	Illumina [2421290] (imputed)	N
1596	chr10	132547260	132547261	rs4750829	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.3	intergenic	rs4750829-A	0.185	9E-6	(Energy storage )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1596	chr10	132547260	132547261	rs4750829	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.3	intergenic	rs4750829-A	0.185	4E-6	(Weight change )	0.03	[NR] kg/y increase	Illumina [899892]	N
1596	chr10	132637304	132637305	rs7094308	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	10q26.3	NR	rs7094308-T	0.424	6E-6		0.095	[0.054-0.136] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1597	chr10	132747886	132747887	rs10829848	22791750	Chen G	2012-07-12	Hum Mol Genet	Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.	Insulin-related traits	927 African American non-diabetic individuals	570 West African ancestry non-diabetic individuals	10q26.3	TCERGIL	rs10829848-T	0.13	1E-7	(FI)	0.25	[0.15-0.35] unit increase	Affymetrix [5396838] (imputed)	N
1597	chr10	132747886	132747887	rs10829848	22791750	Chen G	2012-07-12	Hum Mol Genet	Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.	Insulin-related traits	927 African American non-diabetic individuals	570 West African ancestry non-diabetic individuals	10q26.3	TCERG1L	rs10829848-T	0.13	3E-8	(IR)	0.3	[0.20-0.40] unit increase	Affymetrix [5396838] (imputed)	N
1599	chr10	132947961	132947962	rs10741243	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	10q26.3	TCERG1L	rs10741243-G	0.93	5E-6	(Indian)	1.75	[1.38-2.23]	Illumina [~ 2000000] (imputed)	N
1601	chr10	133172118	133172119	rs10734105	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	10q26.3	TCERG1L	rs10734105-G	0.375	3E-8		1.27	[1.10-1.43]	Affymetrix, Illumina [1060934] (imputed)	N
1601	chr10	133289904	133289905	rs12414342	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	10q26.3	NR	rs12414342-A	NR	3E-6	(phenotype 3)	1.79	[NR]	Illumina [> 8000000] (imputed)	N
1602	chr10	133330025	133330026	rs11018023	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	10q26.3	TCERG1L	rs11018023-A	0.175	7E-6	(Novelty seeking)	0.21	unit increase	Affymetrix, Illumina [1252222] (imputed)	N
1603	chr10	133531152	133531153	rs9419702	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	10q26.3	intergenic	rs9419702-?		9E-6	(disease-free survival)	2.54	[1.68-3.83]	Illumina [729737]	N
1607	chr10	133957760	133957761	rs954820	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	10q26.3	JAKMIP3	rs954820-C	0.44	4E-6	(IL6)			Illumina [588352]	N
1609	chr10	134221544	134221545	rs74383458	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	10q26.3	NR	rs74383458-?	NR	9E-6	(Native Hawaiian)	0.9857	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1609	chr10	134221544	134221545	rs74383458	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	10q26.3	NR	rs74383458-?	NR	4E-6	(Native Hawaiian)	0.9327	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1609	chr10	134295814	134295815	rs73389468	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	10q26.3	C10orf91	rs73389468-?	0.98	9E-6	(Age 20-60 years)	2.78	[1.75-4.35]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1613	chr10	134832926	134832927	rs55816310	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	10q26.3	LOC399829, LOC100128127	rs55816310-A	0.001	1E-6		33.91	[3.51-328.09]	Illumina [1556551]	N
1616	chr10	135184420	135184421	rs7894051	25918517	Yashin AI	2015-04-13	Front Genet	Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.	Lifespan	679 female individuals	432 male individuals	10q26.3	ECHS1	rs7894051-?	0.203	3E-10	(females)	3.525	[NR] unit decrease	Affymetrix [429783]	N
1616	chr10	135197335	135197336	rs11101730	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	10q26.3	PAOX	rs11101730-A	0.94	3E-13	(X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide)	0.055	[0.039-0.071] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1616	chr10	135225665	135225666	rs10857712	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	10q26.3	MTG1	rs10857712-T	0.76	3E-6		1.5129	[1.39-1.64]	Illumina [NR]	N
1617	chr10	135306157	135306158	rs1536827	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	10q26.3	CYP2E1	rs1536827-C	0.07	4E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1617	chr10	135352152	135352153	rs2249694	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	10q26.3	CYP2E1	rs2249694-A	0.225	3E-6	(Height z-score )	0.03	[NR] SD increase	Illumina [899892]	N
586	chr11	202855	202856	rs11602954	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Platelet count	13,582 European ancestry individuals	NA	11p15.5	ODF3, RIC8A, SIRT3, BET1L, PSMD13, SCGB1C1	rs11602954-G	0.78	5E-12		6.46	[NR] unit decrease	Illumina [476395]	N
586	chr11	202855	202856	rs11602954	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	11p15.5	BET1L	rs11602954-A	0.24	2E-6	(LSBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
586	chr11	202855	202856	rs11602954	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	11p15.5	BET1L	rs11602954-G	NR	1E-14		0.01	[0.009-0.017] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
586	chr11	203787	203788	rs2280543	22286173	Low SK	2012-01-27	Hum Mol Genet	Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.	Intracranial aneurysm	1,383 Japanese ancestry cases, 5,484 Japanese ancestry controls	1,048 Japanese ancestry cases, 7,212 Japanese ancestry controls	11p15.5	BET1L	rs2280543-T	0.124	3E-6		1.251	[1.141-1.371]	Illumina [565149]	N
586	chr11	203787	203788	rs2280543	21460842	Cha PC	2011-04-03	Nat Genet	A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.	Uterine fibroids	1,607 Japanese ancestry cases, 1,428 Japanese ancestry controls	3,439 Japanese ancestry cases, 3,244 Japanese ancestry controls	11p15.5	ODF3, RIC8A, SIRT3, BET1L	rs2280543-G	0.88	4E-12		1.39	[1.17-1.64]	Illumina [457044]	N
586	chr11	229976	229977	rs7104764	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11p15.5	SIRT3	rs7104764-G	0.25	4E-8		0.03	[0.018-0.042] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
586	chr11	243267	243268	rs505404	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	11p15.5	PSMD13, NLRP6	rs505404-G	NR	7E-25		4.662	[3.77-5.55] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
587	chr11	270714	270715	rs17655730	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	11p15.5	PSMD13, NLRP6	rs17655730-T	NR	2E-15		0.01	[0.008-0.012] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
588	chr11	494661	494662	rs10540	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.5	RNH1	rs10540-G	0.873	8E-6	(EA, men)	0.028	[0.016-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
588	chr11	494661	494662	rs10540	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.5	RNH1	rs10540-G	0.872	5E-6		0.021	[0.012-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
588	chr11	494661	494662	rs10540	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.5	RNH1	rs10540-G	0.871	3E-6	(EA)	0.022	[0.013-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
589	chr11	589563	589564	rs4963128	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	11p15.5	KIAA1542	rs4963128-?	0.66	4E-6	(anti-dsDNA +)	1.33	[1.18-1.49]	Illumina [421318] (imputed)	N
589	chr11	589563	589564	rs4963128	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	11p15.5	KIAA1542	rs4963128-?	0.34	3E-10		1.28	[1.18-1.37]	Illumina [317501]	N
589	chr11	601784	601785	rs2396545	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	11p15.5	IRF7	rs2396545-?	NR	8E-6	(ACA)	1.19	[NR]	Illumina [NR]	N
591	chr11	831817	831818	rs34391416	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	11p15.5	EFCAB4A, CHID1, AP2A2	rs34391416-A	0.05	5E-8	(EA)	1.93	[1.53-2.45]	Illumina [NR] (imputed)	N
591	chr11	831817	831818	rs34391416	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	11p15.5	EFCAB4A	rs34391416-?	0.05	3E-7		1.85	[1.46-2.34]	Illumina [NR] (imputed)	N
591	chr11	831882	831883	rs35694355	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.5	EFCAB4A	rs35694355-A	0.0050	3E-6	(Head circumference )	0.03	[NR] cm increase	Illumina [899892]	N
592	chr11	941940	941941	rs10751667	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	11p15.5	AP2A2	rs10751667-T	0.634	6E-7		1.0753	[1.04-1.1]	Illumina [7055881] (imputed)	N
593	chr11	1093944	1093945	rs7934606	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	11p15.5	MUC2	rs7934606-T	0.42	7E-34		1.52	[1.40-1.65]	Illumina [439828]	N
594	chr11	1241220	1241221	rs35705950	24429156	Noth I	2013-04-17	Lancet Respir Med	Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.	Idiopathic pulmonary fibrosis	542 European ancestry cases, 542 European ancestry controls	868 European ancestry cases, 1,389 European ancestry controls	11p15.5	MUC5AC, TOLLIP, MUC5B	rs35705950-T	0.14	2E-50		2.43	[2.13-2.77]	Affymetrix [10601812] (imputed)	N
595	chr11	1324771	1324772	rs5743894	24429156	Noth I	2013-04-17	Lancet Respir Med	Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.	Idiopathic pulmonary fibrosis	542 European ancestry cases, 542 European ancestry controls	868 European ancestry cases, 1,389 European ancestry controls	11p15.5	TOLLIP, BRSK2, MUC5B	rs5743894-G	0.18	1E-12		1.49	[1.33-1.68]	Affymetrix [10601812] (imputed)	N
595	chr11	1325828	1325829	rs5743890	24429156	Noth I	2013-04-17	Lancet Respir Med	Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.	Idiopathic pulmonary fibrosis	542 European ancestry cases, 542 European ancestry controls	868 European ancestry cases, 1,389 European ancestry controls	11p15.5	TOLLIP, BRSK2, MUC5B	rs5743890-A	0.83	3E-11		1.64	[1.41-1.92]	Affymetrix [10601812] (imputed)	N
599	chr11	1874071	1874072	rs907611	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	11p15.5	FLJ78302, LTF, CCR1, CCR2, CCR3, CCR5	rs907611-A	0.3211	1E-8	(EA)	1.0787733	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
599	chr11	1874071	1874072	rs907611	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	11p15.5	NR	rs907611-A	0.3211	2E-8	(EA)	1.0621415	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
599	chr11	1874071	1874072	rs907611	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	6,911 European ancestry cases, 11,818 European ancestry controls	801 cases, 1,307 controls	11p15.5	LSP1	rs907611-A	0.31	4E-8		1.15	[1.09-1.21]	Illumina [462190]	N
599	chr11	1874071	1874072	rs907611	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	11p15.5	TNNI2, LSP1	rs907611-A	0.315	3E-10		1.068	[1.035-1.101]	Affymetrix, Illumina [1230000] (imputed)	N
599	chr11	1874071	1874072	rs907611	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	11p15.5	LSP1	rs907611-A	0.32	1E-10		1.08	[1.03-1.13]	Affymetrix, Illumina [~ 1100000] (imputed)	N
599	chr11	1892561	1892562	rs78405116	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Milk allergy	291 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 614 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	11p15.5	LSP1	rs78405116-?	NR	2E-6				Illumina [6459842] (imputed)	N
599	chr11	1909005	1909006	rs3817198	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	11p15.5	LSP1, TNNT3	rs3817198-C	0.66	1E-10		0.14	[0.081-0.199] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
599	chr11	1909005	1909006	rs3817198	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	11p15.5	LSP1	rs3817198-C	0.31	2E-11		1.07	[1.05-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
599	chr11	1909005	1909006	rs3817198	17529967	Easton DF	2007-05-27	Nature	Genome-wide association study identifies novel breast cancer susceptibility loci.	Breast cancer	390 cases,364 controls	26,646 cases,24,889 controls	11p15.5	LSP1	rs3817198-C	0.30	3E-9		1.07	[1.04-1.11]	Perlegen [205586]	N
599	chr11	1941945	1941946	rs909116	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	11p15.5	LSP1	rs909116-T	0.53	7E-7		1.17	[1.10-1.24]	Illumina [582886]	N
600	chr11	1985126	1985127	rs10769945	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	11p15.5	H19, IGF2, MRPL23	rs10769945-T	0.48	5E-7	(H19-ICR)			Illumina [515966]	N
600	chr11	2024543	2024544	rs4930103	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	11p15.5	H19	rs4930103-G	0.397	1E-14	(H19-ICR)			Illumina [515966]	N
600	chr11	2024543	2024544	rs4930103	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (parent-of-origin)	1,024 European ancestry individuals	NA	11p15.5	H19, MIR675	rs4930103-A	0.49	5E-16	(H19-ICR-CpG02)			Illumina [515966]	N
600	chr11	2048487	2048488	rs4930144	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	11p15.5	SYT8, TNNI2, LSP1, H19, ASCL2, IGF2, INS, MRPL23, TH, IGF2AS, TNNT3	rs4930144-A		7E-6				Illumina [944512] (imputed)	N
601	chr11	2138138	2138139	rs6578985	23593202	Ran S	2013-04-04	PLoS One	Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche.	Femoral neck bone geometry and menarche (age at onset)	1,728 European ancestry individuals	501 European ancestry individuals, 826 Chinese ancestry individuals	11p15.5	IGF2	rs6578987-?	NR	3E-6	(AAM-CT, Chinese)			Affymetrix [760794]	N
601	chr11	2138138	2138139	rs6578985	23593202	Ran S	2013-04-04	PLoS One	Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche.	Femoral neck bone geometry and menarche (age at onset)	1,728 European ancestry individuals	501 European ancestry individuals, 826 Chinese ancestry individuals	11p15.5	IGF2	rs6578985-?	NR	6E-6	(AAM-CT, EA)			Affymetrix [760794]	N
601	chr11	2169773	2169774	rs3741208	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	11p15.5	INS	rs3741208-T	0.38	2E-7		1.25	[1.15-1.35]	Affymetrix [NR]	N
601	chr11	2170142	2170143	rs1004446	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	11p15.5	IGF2AS	rs1004446-G	NR	3E-23	(T1D)	1.4	[NR]	Affymetrix, Illumina [NR]	N
601	chr11	2170142	2170143	rs1004446	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	11p15.5	INS	rs1004446-C	0.65	4E-9		1.61	[1.37-1.89]	Illumina [543071]	N
601	chr11	2178669	2178670	rs3842770	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	11p15.5	INS-IGF2	rs3842770-A	0.23	3E-8	(AA)	1.14	[1.09-1.19]	Affymetrix, Illumina [2579389] (imputed)	N
601	chr11	2182223	2182224	rs689	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	11p15.5	INS	rs689-?	NR	5E-196	(T1D)		[2.04-2.63]	Affymetrix, Illumina [NR]	N
601	chr11	2204287	2204288	rs11043007	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	11p15.5	ASCL2, TH	rs11043007-G	0.81	1E-7	(AA)	1.19	[1.11-1.26]	Affymetrix, Illumina [2579389] (imputed)	N
601	chr11	2213165	2213166	rs7111341	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.5	MIR4686	rs7111341-T	0.266	3E-6	(EA, women)	0.021	[0.012-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
601	chr11	2213165	2213166	rs7111341	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	11p15.5	INS	rs7111341-?	NR	4E-48				Affymetrix, Illumina [841622] (imputed)	N
602	chr11	2228951	2228952	rs7126629	24740154	Lange EM	2014-04-16	PLoS One	Genome-wide association scan for variants associated with early-onset prostate cancer.	Prostate cancer (early onset)	931 European ancestry cases, 4,120 European ancestry controls	2,571 European ancestry cases, 921 European ancestry controls	11p15.5	TH	rs7126629-C	0.21	2E-8		1.44	[1.31-1.57]	Illumina [2639562] (imputed)	N
602	chr11	2233573	2233574	rs7127900	24740154	Lange EM	2014-04-16	PLoS One	Genome-wide association scan for variants associated with early-onset prostate cancer.	Prostate cancer (early onset)	931 European ancestry cases, 4,120 European ancestry controls	2,571 European ancestry cases, 921 European ancestry controls	11p15.5	NR	rs7127900-A	NR	1E-7		1.4	[NR]	Illumina [2639562] (imputed)	N
602	chr11	2233573	2233574	rs7127900	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	11p15.5	IGF2, INS, TH, IGF2AS	rs7127900-?	0.20	3E-33		1.22	[1.17-1.27]	Illumina [541129]	N
602	chr11	2308761	2308762	rs2521263	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.5	C11orf21	rs2521263-A	0.309	5E-6	(Fat free mass change )	0.03	[NR] kg/y increase	Illumina [899892]	N
602	chr11	2311151	2311152	rs7944004	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	11p15.5	TSPAN32	rs7944004-T	0.49	2E-10		1.2	[1.13-1.27]	Illumina [549934]	N
602	chr11	2322828	2322829	rs11022157	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	11p15.5	C11orf21, TSPAN32	rs11022157-A	0.36	3E-6		1.22	[NR]	Illumina [450000] (imputed)	N
603	chr11	2426983	2426984	rs2301696	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	11p15.5	KCNQ1	rs2301696-G	0.404	4E-10		1.14	[0.79-1.49] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
603	chr11	2484802	2484803	rs2074238	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	11p15.5	KCNQ1	rs2074238-T	0.053	2E-28		4.89	[4.03-5.75] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
603	chr11	2484802	2484803	rs2074238	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	11p15.5	KCNQ1	rs2074238-T	0.06	3E-17		7.88	[6.16-9.59] msec decrease	Affymetrix, Illumina [up to 2543686] (imputed)	N
603	chr11	2486119	2486120	rs16928297	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	11p15.5	NR	rs16928297-G	0.51	2E-6		1.25	[0.74-1.76] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
603	chr11	2486549	2486550	rs7122937	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	11p15.5	KCNQ1	rs7122937-T	0.188	1E-54		1.93	[1.69-2.17] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
603	chr11	2489341	2489342	rs12296050	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	11p15.5	KCNQ1	rs12296050-T	0.15	8E-11	(QT interval)	13.16	[9.19-17.12] % s.d. increase	Illumina [306060]	N
603	chr11	2489341	2489342	rs12296050	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	11p15.5	KCNQ1	rs12296050-T	0.20	3E-17		1.44	[0.95-1.93] ms increase	Affymetrix, Illumina [2557000] (imputed)	N
604	chr11	2502318	2502319	rs12576239	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	11p15.5	KCNQ1	rs12576239-T	0.13	1E-15		1.75	[1.41-2.09] msec increase	Affymetrix, Illumina [up to 2543686] (imputed)	N
604	chr11	2550729	2550730	rs179429	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	11p15.5	KCNQ1	rs179429-A	0.167	7E-6	(ADP)			Affymetrix, Illumina [~ 2330000] (imputed)	N
605	chr11	2626333	2626334	rs7947981	25055868	Sano M	2014-07-23	Hum Mol Genet	Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.	Electrocardiographic traits	2,994 Japnese ancestry individuals	6,805 Korean ancestry individuals	11p15.5	KCNQ1	rs7947981-G	0.111	3E-7	(QT)			Illumina [~ 2500000]	N
605	chr11	2652656	2652657	rs10832417	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	11p15.5	KCNQ1	rs10832417-T	0.31	4E-7	(MAP, response to intervention)	1.05	[0.64-1.46] mmHg decrease	Affymetrix [2216774] (imputed)	N
605	chr11	2652656	2652657	rs10832417	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	11p15.5	KCNQ1	rs10832417-T	0.31	1E-6	(SBP, response to intervention)	1.3	[0.77-1.83] mmHg decrease	Affymetrix [2216774] (imputed)	N
605	chr11	2691470	2691471	rs231362	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	11p15.5	KCNQ1	rs231362-G		3E-13		1.08	[1.06-1.10]	Affymetrix, Illumina [2426886] (imputed)	N
605	chr11	2705342	2705343	rs231356	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	11p15.5	KCNQ1	rs231356-T	0.27	4E-8		1.09	[1.06-1.13]	Affymetrix, Illumina [2579389] (imputed)	N
606	chr11	2752608	2752609	rs231906	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	11p15.5	KCNQ1	rs231906-A	0.64	2E-6		1.51	[0.88-2.14] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
606	chr11	2757984	2757985	rs108961	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	11p15.5	KCNQ1	rs108961-T	0.474	9E-6		0.09	[0.051-0.129] unit increase	Illumina [2316178] (imputed)	N
606	chr11	2766281	2766282	rs2237878	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	11p15.5	KCNQ1	rs2237878-?	0.07	1E-6	(Lactic dehydrogenase)			Illumina [496032]	N
606	chr11	2781518	2781519	rs179785	25967671	Li C	2015-05-13	Nat Commun	Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.	Gout	1,255 Han Chinese ancestry male cases, 1,848 Han Chinese ancestry male controls	3,020 Han Chinese ancestry male cases, 4,424 Han Chinese ancestry male controls	11p15.5	KCNQ1	rs179785-?	0.489	1E-8		1.22	[NR]	Affymetrix [603505]	N
606	chr11	2802089	2802090	rs234886	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	11p15.5	KCNQ1	rs234886-C	0.83	9E-8		0.035	[0.019-0.051] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
606	chr11	2810730	2810731	rs2237886	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	11p15.5	KCNQ1	rs2237886-T	0.107	5E-18		0.043	[0.033-0.053] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
606	chr11	2810730	2810731	rs2237886	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11p15.5	KCNQ1	rs2237886-T	0.11	2E-13		0.046	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
606	chr11	2831540	2831541	rs8181588	24101674	Hanson RL	2013-10-07	Diabetes	A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes.	Type 2 diabetes	278 American Indian ancestry young-onset cases, 129 American Indian ancestry cases, 424 American Indian ancestry controls from 514 sibships	1,273 American Indian ancestry cases, 1,635 American Indian ancestry controls, 793 cases, 3,133 controls	11p15.4	KCNQ1	rs8181588-A	0.48	5E-9		1.3	[NR]	Affymetrix [453654]	N
606	chr11	2839750	2839751	rs2237892	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	11p15.4	KCNQ1	rs2237892-T	0.36	9E-13		0.0298	[0.022-0.038] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr11	2839750	2839751	rs2237892	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	11p15.4	KCNQ1	rs2237892-C	0.61	4E-29		1.3	[1.24-1.36]	Illumina [6209637] (imputed)	N
606	chr11	2839750	2839751	rs2237892	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	11p15.4	KCNQ1	rs2237892-C	0.657	1E-7		1.32	[1.19-1.46]	Illumina [2234194] (imputed)	N
606	chr11	2839750	2839751	rs2237892	21573907	Parra EJ	2011-05-15	Diabetologia	Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.	Type 2 diabetes	1,804 Hispanic cases, 780 Hispanic controls	European ancestry individuals	11p15.4	KCNQ1	rs2237892-C	NR	4E-6		1.2	[1.11-1.29]	Affymetrix [315658]	N
606	chr11	2839750	2839751	rs2237892	19401414	Takeuchi F	2009-04-29	Diabetes	Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.	Type 2 diabetes	519 Japanese ancestry cases, 503 Japanese ancestry controls	5,110 Japanese ancestry cases, 6,867 Japanese ancestry controls	11p15.4	KCNQ1	rs2237892-C	0.59	1E-26		1.33	[1.27-1.41]	Illumina [482625]	N
606	chr11	2839750	2839751	rs2237892	18711367	Yasuda K	2008-08-17	Nat Genet	Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.	Type 2 diabetes	187 Japanese ancestry cases, 1,504 Japanese ancestry controls	6,552 East Asian ancestry cases, 6,621 East Asian ancestry controls, 2,830 European ancestry cases, 3,740 European ancestry controls	11p15.4	KCNQ1	rs2237892-C	0.61	2E-42		1.45	[1.34-1.47]	NR [82343]	N
606	chr11	2844215	2844216	rs163182	21799836	Cui B	2011-07-22	PLoS One	A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.	Type 2 diabetes	793 Han Chinese ancestry cases, 806 Han Chinese ancestry controls	4,445 Han Chinese ancestry cases, 4,458 Han Chinese ancestry controls	11p15.4	KCNQ1	rs163182-C	0.34	2E-17		1.28	[NR]	Illumina [474515]	N
606	chr11	2847068	2847069	rs163184	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	11p15.4	KCNQ1	rs163184-G	0.5	2E-14		1.09	[1.04-1.13]	Affymetrix, Illumina [2500000] (imputed)	N
606	chr11	2849529	2849530	rs2283228	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	11p15.4	KCNQ1	rs2283228-A	0.89	5E-13		1.19	[1.13-1.24]	Affymetrix, Illumina [2579389] (imputed)	N
606	chr11	2849529	2849530	rs2283228	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	11p15.4	KCNQ1	rs2283228-A	0.89	1E-10	(AA)	1.2	[1.14-1.27]	Affymetrix, Illumina [2579389] (imputed)	N
606	chr11	2857193	2857194	rs2237895	20174558	Tsai FJ	2010-02-19	PLoS Genet	A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.	Type 2 diabetes	995 Han Chinese ancestry cases, 894 Han Chinese ancestry controls	1,803 Han Chinese ancestry cases, 1,473 Han Chinese ancestry controls	11p15.4	KCNQ1	rs2237895-C	0.33	1E-9		1.29	[1.19-1.40]	Illumina [516737]	N
606	chr11	2858545	2858546	rs2237897	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	11p15.4	KCNQ1	rs2237897-?		7E-6	(DI)	1.75	[0.75-2.75] unit increase	Illumina [693128]	N
606	chr11	2858545	2858546	rs2237897	24390345	Williams AL	2013-12-25	Nature	Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.	Type 2 diabetes	3,848 Mexican and other Latin American ancestry cases, 4,366 Mexican and other Latin American ancestry controls	896 Mexican American cases, 832 Mexican American controls, 2,768 East Asian ancestry cases, 2,880 East Asian ancestry controls, 1,082 South Asian ancestry cases, 1,105 South Asian ancestry controls, 1,874 European ancestry cases, 1,333 European ancestry controls, 2,127 African American cases, 2,103 African American controls, 698 Native Hawaiian ancestry cases, 579 Native Hawaiian ancestry controls, 2,009 Singaporean ancestry cases, 1959 Singaporean ancestry controls	11p15.4	KCNQ1	rs2237897-C	NR	9E-15		1.31	[1.22-1.41]	Illumina [9200000] (imputed)	N
606	chr11	2858545	2858546	rs2237897	18711366	Unoki H	2008-08-17	Nat Genet	SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.	Type 2 diabetes	194 Japanese ancestry cases, 1,558 Japanese ancestry controls	5,324 East Asian ancestry cases, 7,037 East Asian ancestry controls, 4,085 European ancestry cases, 5,302 European ancestry controls	11p15.4	KCNQ1	rs2237897-C	0.34	1E-16		1.33	[1.24-1.41]	Affymetrix [207097]	N
607	chr11	2936951	2936952	rs16928809	19414484	Johnson AD	2009-05-04	Hum Mol Genet	Genome-wide association meta-analysis for total serum bilirubin levels.	Bilirubin levels	9,464 individuals	NA	11p15.4	SLC22A18	rs16928809-A	0.09	1E-7		0.06	[0.04-0.08] umol/l increase in log(tbil)	Affymetrix, Illumina [2555103] (imputed)	N
607	chr11	2953722	2953723	rs3847646	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	11p15.4	SLC22A18, PHLDA2, CDKN1C, NAP1L4	rs3847646-T	NR	5E-6		0.03	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr11	3029088	3029089	rs7481584	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	11p15.4	CARS	rs7481584-A	0.3	1E-10		0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
608	chr11	3036323	3036324	rs739401	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	11p15.4	CARS	rs739401-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
609	chr11	3259808	3259809	rs11026091	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		11p15.4	MRGPRE	rs11026091-?		2E-6	(Cluxel minimum distance)			Illumina [208975]	N
613	chr11	3722303	3722304	rs685782	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	11p15.4	NUP98	rs685782-C		7E-6		0.192	[0.05-0.13] unit increase	Affymetrix [~ 2500000] (imputed)	N
619	chr11	4496845	4496846	rs2278170	22470424	Kwee LC	2012-03-28	PLoS One	A high-density genome-wide association screen of sporadic ALS in US veterans.	Amyotrophic lateral sclerosis	Up to 639 European ancestry cases, 6,257 European ancestry controls	Up to 183 European ancestry cases, 961 European ancestry controls	11p15.4	OR52K1	rs2278170-?	NR	7E-6	(outcome)	1.43	[1.25-1.67]	Affymetrix, Illumina [1280579]	N
619	chr11	4516575	4516576	rs10160399	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.4	OR52K1	rs10160399-A	0.042	2E-6	(DBP )	0.03	[NR] mmHg increase	Illumina [899892]	N
619	chr11	4563217	4563218	rs12416860	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.4	OR52M1	rs12416860-G	0.073	4E-6	(TNF-a )	0.03	[NR] pg/mL increase	Illumina [899892]	N
620	chr11	4605194	4605195	rs2566255	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	11p15.4	C11orf40, OR52I2	rs2566255-?	NR	2E-6	(% Change in score)	0.26	[NR] unit increase	Illumina [~ 7000000] (imputed)	N
621	chr11	4790574	4790575	rs12788102	23717212	Band G	2013-05-23	PLoS Genet	Imputation-based meta-analysis of severe malaria in three African populations.	Malaria	5,425 African ancestry cases, 6,891 African ancestry controls	NA	11p15.4	HBB	rs12788102-A	NR	2E-16		2.15	[1.79-2.59]	Illumina [1300000] (imputed)	N
621	chr11	4824627	4824628	rs61880854	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11p15.4	NR	rs61880854-?	NR	2E-6	(EA)	0.5821	[0.34-0.82] unit increase	Illumina [up to 11892802] (imputed)	N
621	chr11	4824627	4824628	rs61880854	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11p15.4	NR	rs61880854-?	NR	5E-7	(EA)	0.5055	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
622	chr11	4885547	4885548	rs2196122	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	11p15.4	OR51H1P, OR51H2P	rs2196122-G	0.84	7E-7	(EA, SBP, Age 20-29)	1.91	[1.17-2.65] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
623	chr11	5029702	5029703	rs2445284	23406172	Milton JN	2013-02-14	Br J Haematol	Genetic determinants of haemolysis in sickle cell anaemia.	Sickle cell anemia (haemolysis)	1,117 individuals	213 African ancestry, West African ancestry and Afro-Caribbean individuals, 745 individuals	11p15.4	OR51L1	rs2445284-G	0.05	1E-29		0.82	[0.68-0.96] unit decrease	Illumina [569554]	N
624	chr11	5225446	5225447	rs7950726	23043469	Menzel S	2012-10-09	Br J Haematol	HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.	HbA2 levels	2,322 European ancestry individuals	1,716 European ancestry individuals	11p15.4	HBB	rs7950726-A	0.12	1E-11				Illumina [531038]	N
624	chr11	5225634	5225635	rs11036238	19465909	Jallow M	2009-05-24	Nat Genet	Genome-wide and fine-resolution association analysis of malaria in West Africa.	Malaria	958 Gambian ancestry cases, 1,382 Gambian ancestry controls	1,087 Gambian ancestry cases, 2,376 Gambian ancestry controls	11p15.4	HBB	rs11036238-?	0.14	4E-11		1.59	[1.39-1.82]	Affymetrix [402814]	N
624	chr11	5230906	5230907	rs7120391	23696099	Ding K	2013-05-20	G3 (Bethesda)	Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.	Red blood cell traits	1904 African American individuals	411 African American individuals	11p15.4	NA	rs7120391-C	0.12	5E-9	(MCHC)	0.3	[0.20-0.40] unit increase	Illumina [907954]	N
625	chr11	5263852	5263853	rs16912210	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.4	HBBP1	rs16912210-G	0.08	4E-7	(Fat free mass change )	0.05	[NR] kg/y increase	Illumina [899892]	N
625	chr11	5263852	5263853	rs16912210	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.4	HBBP1	rs16912210-G	0.08	1E-6	(Protein deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
625	chr11	5263852	5263853	rs16912210	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.4	HBBP1	rs16912210-G	0.08	1E-6	(Protein )	0.04	[NR] kg/y increase	Illumina [899892]	N
625	chr11	5264145	5264146	rs2071348	20183929	Nuinoon M	2009-11-19	Hum Genet	A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.	Beta thalassemia/hemoglobin E disease	235 Thai-Chinese ancestry mild cases, 383 Thai-Chinese ancestry severe cases	52 Indonesian ancestry mild cases, 122 Indonesian ancestry severe cases	11p15.4	HBE1, HBG2, HBD, HBBP1, HBG1	rs2071348-?	0.50	3E-15		4.05	[2.64-6.21]	Illumina [548094]	N
625	chr11	5303062	5303063	rs2213169	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin concentration	7,943 African American children, 6,234 European ancestry children	NA	11p15.4	HBE1, HBD, HBBP1, HBG1, HBB	rs2213169-T	0.1362	1E-13	(AA)	0.2227	[0.16-0.28] unit increase	Illumina [544917]	N
625	chr11	5303062	5303063	rs2213169	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	11p15.4	HBE1, HBD, HBBP1, HBG1, HBB	rs2213169-T	0.1362	5E-11	(AA, HCT)	0.4471	[0.31-0.58] unit decrease	Illumina [544917]	N
625	chr11	5306508	5306509	rs4910742	22291609	Naitza S	2012-01-26	PLoS Genet	A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.	Inflammatory biomarkers	4,694 Sardinian individuals	1,392 Sardinian individuals	11p15.4	HBB	rs4910742-G	0.066	2E-9	(ESR)			Affymetrix [~ 1900000] (imputed)	N
625	chr11	5306508	5306509	rs4910742	18245381	Uda M	2008-02-05	Proc Natl Acad Sci U S A	Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.	Fetal hemoglobin levels	4,305 European ancestry individuals	521 European ancestry individuals	11p15.4	HBB	rs4910742-A	0.93	1E-21		0.58	[NR] s.d. decrease in HbF	Affymetrix [362129]	N
625	chr11	5373250	5373251	rs5006884	20018918	Solovieff N	2009-12-16	Blood	Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.	Fetal hemoglobin levels	848 Black cases	305 Black cases, 406 Chinese ancestry cases, 113 Thai ancestry cases	11p15.4	OR51B5, OR51B6	rs5006884-A	0.25	3E-8	(African)	0.16	[NR] unit increase	Illumina [~ 600000]	N
626	chr11	5471745	5471746	rs7948471	23406172	Milton JN	2013-02-14	Br J Haematol	Genetic determinants of haemolysis in sickle cell anaemia.	Sickle cell anemia (haemolysis)	1,117 individuals	213 African ancestry, West African ancestry and Afro-Caribbean individuals, 745 individuals	11p15.4	OR51I1, OR51I2	rs7948471-A	.21	3E-10		0.26	[0.18-0.34] unit decrease	Illumina [569554]	N
627	chr11	5518155	5518156	rs372091	22895189	Timmann C	2012-08-15	Nature	Genome-wide association study indicates two novel resistance loci for severe malaria.	Malaria	1,325 African ancestry, 828 African ancestry controls	2,229 African ancestry cases, 3,526 African ancestry controls	11p15.4	HBB	rs372091-C	0.972	6E-14		2.17	[NR]	Affymetrix [4205739] (imputed)	N
627	chr11	5625602	5625603	rs7108470	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p15.4	NR	rs7108470-G	0.423505770703473	3E-6	(IGP31)	0.1516	[0.088-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
628	chr11	5688023	5688024	rs11820502	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p15.4	NR	rs11820502-C	0.287788676326349	2E-6	(IGP30)	0.1821	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
628	chr11	5688023	5688024	rs11820502	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p15.4	NR	rs11820502-C	0.287504188780053	3E-6	(IGP27)	0.1762	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
628	chr11	5688023	5688024	rs11820502	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p15.4	NR	rs11820502-C	0.287492850713013	1E-6	(IGP25)	0.1836	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
630	chr11	5959756	5959757	rs3858526	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	11p15.4	TRIM5	rs3858526-C	0.27	3E-6	(KvDMR)			Illumina [515966]	N
633	chr11	6342328	6342329	rs1488864	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	11p15.4	PRKCDBP	rs1488864-A	0.0932	1E-6		1.295	[NR] unit increase	Illumina [1216189] (imputed)	N
633	chr11	6375808	6375809	rs10769691	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11p15.4	PRKCDBP, SMPD1	rs10769691-A	0.072	2E-7		3.13	[2-4.9]	Illumina [1556551]	N
634	chr11	6522803	6522804	rs2555155	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	11p15.4	FXC1, DNHD1	rs2555155-G	0.117	5E-6	(H19-ICR)			Illumina [515966]	N
636	chr11	6750056	6750057	rs12799172	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	11p15.4	NR	rs12799172-?	0.64	5E-6	(PD1)	2.12	[NR]	Illumina [~ 1400000] (imputed)	N
636	chr11	6783400	6783401	rs4758132	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	11p15.4	OR2AG2, OR2AG1	rs4758132-?	NR	3E-6				Perlegen [1871025] (imputed)	N
638	chr11	6962956	6962957	rs2857891	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	11p15.4	ZNF215	rs2857891-?		2E-6				Affymetrix, Illumina [1348798]	N
641	chr11	7367094	7367095	rs10769780	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	11p15.4	SYT9	rs10769780-?	NR	3E-8	(levels)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
641	chr11	7396190	7396191	rs10769783	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11p15.4	SYT9	rs10769783-?	NR	2E-7				Affymetrix [5486770] (imputed)	N
641	chr11	7396190	7396191	rs10769783	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	11p15.4	SYT9	rs10769783-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
641	chr11	7400565	7400566	rs66714249	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11p15.4	intergenic	rs66714249-A	0.005	2E-6		8.66	[2.96-25.31]	Illumina [1556551]	N
641	chr11	7464371	7464372	rs4076555	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p15.4	NR	rs4076555-C	0.336591107706174	7E-6	(IGP4)	0.1591	[0.09-0.229] unit decrease	Illumina [~ 2500000] (imputed)	N
642	chr11	7556576	7556577	rs12791447	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	11p15.4	PPFIBP2	rs12791447-C	0.136	4E-8		1.23	[NR]	Illumina [4550396] (imputed)	N
643	chr11	7701502	7701503	rs11041530	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	11p15.4	CYB5R2	rs11041530-C	0.11	6E-6	(SBP)	1.35	[0.86-1.84] unit decrease	Affymetrix, Illumina [~ 2420000] (imputed)	N
643	chr11	7708280	7708281	rs7932813	19557197	Heard-Costa NL	2009-06-26	PLoS Genet	NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.	Waist circumference	31,373 European ancestry individuals	38,641 individuals	11p15.4	OVCH2	rs7932813-?	NR	5E-6				Affymetrix, Illumina [up to 512349]	N
645	chr11	7968358	7968359	rs878860	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	11p15.4	NLRP10, OR10A3	rs878860-G	0.537	2E-22		1.31	[1.24-1.38]	Illumina [606164]	N
646	chr11	8014776	8014777	rs12420464	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	11p15.4	EIF3F	rs12420464-T	0.04	3E-6		0.38	[NR] unit decrease	Affymetrix, Illumina [up to 2500000] (imputed)	N
647	chr11	8243797	8243798	rs11041816	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	11p15.4	LMO1	rs11041816-?		2E-7				Affymetrix, Illumina [~ 2400000] (imputed)	N
647	chr11	8250810	8250811	rs4758317	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		11p15.4	LMO1	rs4758317-?	0.42	7E-7		0.08	[0.041-0.119] unit decrease	Illumina [4058415] (imputed)	N
647	chr11	8252852	8252853	rs110419	22941191	Diskin SJ	2012-09-02	Nat Genet	Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.	Neuroblastoma	2,101 European ancestry cases, 4,202 European ancestry controls	351 European ancestry cases, 780 European ancestry controls, 365 African American cases, 2,491 African American controls	11p15.4	LMO1	rs110419-A	0.489	1E-13		1.32	[NR]	Illumina [426697]	N
647	chr11	8252852	8252853	rs110419	21124317	Wang K	2010-12-01	Nature	Integrative genomics identifies LMO1 as a neuroblastoma oncogene.	Neuroblastoma	1,627 European ancestry child cases, 3,254 European ancestry child controls	624 European ancestry child cases, 2,843 European ancestry child controls	11p15.4	LMO1	rs110419-A	0.49	5E-16		1.34	[1.25-1.44]	Illumina [480279]	N
649	chr11	8484088	8484089	rs10769908	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	11p15.4	STK33	rs10769908-C	0.53	1E-6				Affymetrix, Illumina [2399588] (imputed)	N
650	chr11	8604592	8604593	rs4929949	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	11p15.4	RPL27A, TUB	rs4929949-C	0.52	3E-9		0.06	[0.02-0.10] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
650	chr11	8639199	8639200	rs4929923	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	11p15.4	TRIM66	rs4929923-T	0.36	1E-8		2.3	[1.52-3.08] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
650	chr11	8639993	8639994	rs4929947	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11p15.4	TRIM66	rs4929947-G	0.36	3E-12		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
651	chr11	8662515	8662516	rs11042023	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	11p15.4	RPL27A	rs11042023-C	0.65	1E-11	(Obesity class I)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
651	chr11	8673938	8673939	rs4256980	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.4	TRIM66	rs4256980-G	0.647	2E-8	(EA, women)	0.023	[0.015-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
651	chr11	8673938	8673939	rs4256980	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.4	TRIM66	rs4256980-G	0.646	3E-11	(EA)	0.021	[0.015-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
651	chr11	8673938	8673939	rs4256980	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.4	TRIM66	rs4256980-G	0.645	9E-6	(EA, men)	0.019	[0.01-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
651	chr11	8673938	8673939	rs4256980	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.4	TRIM66	rs4256980-G	0.638	8E-12		0.021	[0.015-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
651	chr11	8751639	8751640	rs3812762	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	11p15.4	ST5	rs3812762-G	0.6748	1E-6		1.1965	[NR]	Illumina [8207076] (imputed)	N
652	chr11	8899399	8899400	rs2455601	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	11p15.4	NR	rs2455601-A	NR	7E-6		1.34	[NR]	Illumina [up to 9792010] (imputed)	N
654	chr11	9109286	9109287	rs2647528	23279374	Athanasiadis G	2013-01-02	J Thromb Haemost	Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.	&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels	306 European ancestry individuals	NA	11p15.4	SCUBE2	rs2647528-C	0.17	3E-7		0.59	unit increase	Illumina [283437]	N
654	chr11	9111557	9111558	rs963167	23279374	Athanasiadis G	2013-01-02	J Thromb Haemost	Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.	&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels	306 European ancestry individuals	NA	11p15.4	SCUBE2	rs963167-C	0.15	1E-7		0.65	unit increase	Illumina [283437]	N
660	chr11	9852474	9852475	rs2403221	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	11p15.4	NR	rs2403221-?		5E-6	(females)			Illumina [1211988] (imputed)	N
661	chr11	9973061	9973062	rs10500715	23180869	Wu C	2012-11-24	Gut	Genome-wide association study of survival in patients with pancreatic adenocarcinoma.	Pancreatic cancer	642 European ancestry cases	363 Chinese ancestry cases	11p15.4	SBF2	rs10500715-T	0.63	2E-7		1.32	[1.19-1.47]	Illumina [2731086] (imputed)	N
663	chr11	10350537	10350538	rs7129220	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	11p15.4	ADM	rs7129220-G	0.89	3E-12		0.619	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
663	chr11	10350537	10350538	rs7129220	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	11p15.4	ADM	rs7129220-G	0.89	6E-8		0.299	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
663	chr11	10350537	10350538	rs7129220	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	11p15.4	ADM	rs7129220-G	0.87	4E-7	(Pulse Pressure)	0.38	[0.23-0.53] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
664	chr11	10368118	10368119	rs2957692	23381795	Verweij N	2013-02-04	Hypertension	Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.	Circulating vasoactive peptide levels	3,444 European ancestry individuals	3,230 European ancestry individuals	11p15.4	ADM	rs2957692-G	0.40	1E-12	(ADM)	0.015	[0.011-0.019] nmol/l decrease	Illumina [2269099] (imputed)	N
664	chr11	10388781	10388782	rs2923084	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11p15.4	AMPD3	rs2923084-G	0.18	5E-8		0.026	[NR] unit decrease	NR [NR] (imputed)	N
664	chr11	10388781	10388782	rs2923084	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	11p15.4	AMPD3, ADM	rs2923084-G	0.17	5E-8		0.41	[0.21-0.61] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
664	chr11	10390580	10390581	rs6484218	20713499	Huang J	2010-08-16	Am J Psychiatry	Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.	Schizophrenia, bipolar disorder and depression (combined)	402 European ancestry schizophrenia cases, 1,021 European ancestry bipolar I cases, 493 European ancestry bipolar II cases, 1,210 European ancestry MDD cases, 1,060 European ancestry controls	NA	11p15.4	ADM	rs6484218-A	0.14	4E-8				Affymetrix, Perlegen [1574154] (imputed)	N
666	chr11	10669227	10669228	rs7940646	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	11p15.4	MRVI1	rs7940646-T	0.381	1E-6	(ADP)			Affymetrix, Illumina [~ 2330000] (imputed)	N
666	chr11	10673738	10673739	rs4909945	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	11p15.4	intergenic	rs4909945-?	0.67	2E-7		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
666	chr11	10740365	10740366	rs2018368	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	11p15.4	NR	rs2018368-?	NR	1E-6		1.2392	[NR]	Affymetrix [722112]	N
669	chr11	11109238	11109239	rs1910505	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	11p15.4	intergenic	rs1910505-?	NR	4E-6	(Additive model)	0.3	unit increase	Illumina [542562]	N
670	chr11	11228373	11228374	rs2722769	22238593	Palmer ND	2012-01-04	PLoS One	A genome-wide association search for type 2 diabetes genes in African Americans.	Type 2 diabetes	965 African American cases, 1,029 African American controls	2,167 African American cases, 2,288 African American controls	11p15.4	GALNTL4, LOC729013	rs2722769-C	0.53	2E-6		1.35	[1.19-1.54]	Affymetrix [832357]	N
672	chr11	11504227	11504228	rs7940423	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	11p15.4	intergenic	rs7940423-?	0.011	1E-7	(CSJC, RF+)	10.9	[NR] unit decrease	Illumina [534053]	N
673	chr11	11536486	11536487	rs4077732	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Psychotic symptoms in prion disease	Up to 170 cases	NA	11p15.4	GALNTL4	rs4077732-?	0.33	2E-6		3.33	[2.00-1.25]	Illumina [518938]	N
673	chr11	11592910	11592911	rs9919625	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	11p15.4	GALNTL4	rs9919625-?	NR	2E-6		2.269	[1.38-3.16] unit decrease	Illumina [498648]	N
673	chr11	11592910	11592911	rs9919625	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	11p15.4	GALNTL4	rs9919625-?	NR	2E-6		1.397	[0.84-1.95] unit decrease	Illumina [498648]	N
673	chr11	11593572	11593573	rs77302254	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11p15.4	intergenic	rs77302254-A	0.03	2E-6		3.86	[2.14-6.96]	Illumina [1556551]	N
676	chr11	11983884	11983885	rs1472189	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	11p15.3	DKK3	rs1472189-C		8E-6		0.11	[0.06-0.16] unit decrease	Affymetrix [~ 2500000] (imputed)	N
677	chr11	12070664	12070665	rs16910421	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	11p15.3	DKK3	rs16910421-A	0.03	4E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
677	chr11	12072502	12072503	rs923175	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	11p15.3	DKK3	rs923175-?	NR	7E-6				Affymetrix, Illumina [~ 1300000]	N
677	chr11	12091006	12091007	rs114332009	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11p15.3	intergenic	rs114332009-G	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
677	chr11	12159660	12159661	rs1994318	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	PR interval	455 African American individuals	NA	11p15.3	MICAL2	rs1994318-A		2E-6		6.79	[NR] ms decrease	Illumina [> 930000]	N
678	chr11	12235159	12235160	rs12291066	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	11p15.3	MICAL2	rs12291066-A	0.11	8E-7	(cohort study)	1.45	[1.25-1.69]	Affymetrix, Illumina [up to 2600000] (imputed)	N
680	chr11	12469396	12469397	rs7120489	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	11p15.3	PARVA	rs7120489-A	0.069	7E-6	(EA)	1.35	[0.96-1.90]	Affymetrix [up to 2366858] (imputed)	N
680	chr11	12480086	12480087	rs1346220	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11p15.3	PARVA, MICALCL, TEAD1	rs1346220-G	0.002	2E-6		15.45	[3.42-69.69]	Illumina [1556551]	N
680	chr11	12494300	12494301	rs954123	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	11p15.3	PARVA	rs954123-A	0.43	8E-7		0.52	[0.34-0.70] unit decrease	Illumina [NR] (imputed)	N
681	chr11	12678414	12678415	rs6485978	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	11p15.3	TEAD1	rs6485978-T	0.544	1E-15		0.023	[0.017-0.029] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
681	chr11	12698039	12698040	rs7926971	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11p15.3	TEAD1	rs7926971-A	0.55	4E-10		0.023	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
682	chr11	12838285	12838286	rs2033908	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	11p15.3	NR	rs2033908-A	0.418	6E-6	(EA)	0.045	[0.025-0.065] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
684	chr11	13090941	13090942	rs2727405	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.3	RASSF10	rs2727405-A	0.323	8E-6	(Bike energy expenditure )	0.03	[NR] kcal/min increase	Illumina [899892]	N
685	chr11	13129162	13129163	rs117020818	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	11p15.3	CTC-497E21.5	rs117020818-?	0.046	7E-7	(S-DCT concentration)			Illumina [7537437] (imputed)	N
685	chr11	13158009	13158010	rs34660913	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	11p15.3	intergenic	rs34660913-T	0.0931	3E-6		0.6319	[0.37-0.9] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
685	chr11	13158009	13158010	rs34660913	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	11p15.3	intergenic	rs34660913-T	0.0922	5E-6	(Ordinal)	0.6007	[0.34-0.86] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
686	chr11	13293904	13293905	rs900145	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	11p15.3	ARNTL	rs900145-C	0.30	2E-8		2.3	[1.52-3.08] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
686	chr11	13315438	13315439	rs11022756	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11p15.3	ARNTL, PTH	rs11022756-A	0.29	7E-20		0.05	[0.038-0.062] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
686	chr11	13331225	13331226	rs4757144	23358160	Borglum AD	2013-01-29	Mol Psychiatry	Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci.	Schizophrenia	888 European ancestry cases, 882 European ancestry controls	2539 European ancestry cases, 5486 European ancestry controls	11p15.3	ARNTL	rs4757144-G	0.418	5E-6		1.154		Illumina [541148]	N
686	chr11	13345592	13345593	rs9633835	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.3	ARNTL	rs9633835-G	0.632	8E-6	(EA)	0.018	[0.01-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
686	chr11	13345592	13345593	rs9633835	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.3	ARNTL	rs9633835-G	0.631	6E-6		0.018	[0.01-0.0252] kg/m2 increase	Affymetrix, Illumina [2550021]	N
686	chr11	13355769	13355770	rs6486121	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	11p15.3	ARNTL	rs6486121-T	0.631	4E-10		0.046	[0.032-0.060] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
686	chr11	13361523	13361524	rs6486122	22990020	Huang J	2012-09-18	Blood	Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.	Plasminogen activator inhibitor type 1 levels (PAI-1)	19,599 European ancestry individuals	10,764 European ancestry individuals	11p15.3	ARNTL	rs6486122-?	NR	2E-10		0.046	[NR] unit increase	Affymetrix, Illumina [2445683] (imputed)	N
688	chr11	13620171	13620172	rs9630182	19874204	Guo Y	2009-10-29	J Bone Miner Res	IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study.	Bone mineral density	983 European ancestry individuals	2,557 European ancestry individuals from 750 families	11p15.3	PTH	rs9630182-T	0.38	4E-7		0.11	[NR] s.d. increase	Affymetrix [342854]	N
691	chr11	13996154	13996155	rs1819084	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	11p15.2	SPON1	rs1819084-C	0.71	9E-6		6.25	[NR]	Affymetrix [up to 4467279] (imputed)	N
691	chr11	14021638	14021639	rs2618516	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		11p15.2	SPON1	rs2618516-T	0.36	6E-10	(connectivity pattern)	0.0018	[NR] unit increase	Illumina [428287]	N
692	chr11	14098481	14098482	rs17556665	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	11p15.2	SPON1	rs17556665-?	NR	1E-6	(Tumor necrosis factor-a)			Affymetrix [2543887] (imputed)	N
693	chr11	14224345	14224346	rs11023139	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		11p15.2	RRAS2, PSMA1, SPON1	rs11023139-?	0.05	7E-11		0.31	unit decrease	Illumina [NR] (imputed)	N
694	chr11	14396484	14396485	rs7937890	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	11p15.2	RRAS2	rs7937890-?	NR	2E-6	(Males)		[NR]	Illumina [283437]	N
695	chr11	14449860	14449861	rs12287212	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	11p15.2	RNU7-49P, COPB1, RRAS2, PSMA1	rs12287212-A	0.35	2E-8	(Age 14)	0.94	[0.92-0.96] unit increase	Illumina [2461244] (imputed)	N
697	chr11	14774590	14774591	rs1007392	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	11p15.2	CYP2R1, PDE3B, CALCA, CALCP, OR7E41P	rs1007392-A	0.59	4E-8	(Age 6)	1.06	[1.04-1.08] unit increase	Illumina [2461244] (imputed)	N
697	chr11	14784109	14784110	rs11023332	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	11p15.2	PDE3B, CYP2R1, CALCA, CALCP, OR7E41P	rs11023332-C	0.42	2E-10	(Age 14)	0.94	[0.92-0.96] unit increase	Illumina [2461244] (imputed)	N
697	chr11	14784109	14784110	rs11023332	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	11p15.2	NR	rs11023332-G	NR	7E-6		0.019	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
698	chr11	14914877	14914878	rs10741657	20541252	Wang TJ	2010-06-09	Lancet	Common genetic determinants of vitamin D insufficiency: a genome-wide association study.	Vitamin D insufficiency	16,125 European ancestry individuals	17,871 European ancestry individuals	11p15.2	CYP2R1	rs10741657-?	0.40	3E-20				Affymetrix, Illumina [up to 2548976] (imputed)	N
698	chr11	14915309	14915310	rs2060793	20418485	Ahn J	2010-04-23	Hum Mol Genet	Genome-wide association study of circulating vitamin D levels.	Vitamin D levels	4,501 European ancestry individuals	2,221 European ancestry individuals	11p15.2	CYP2R1	rs2060793-A	0.41	3E-17		0.25	[0.15-0.35] unit increase	Affymetrix, Illumina [593253] (imputed)	N
702	chr11	15355245	15355246	rs11605083	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	11p15.2	INSC	rs11605083-?	NR	4E-6	(rs7679673)	1.28	[1.15-1.43]	Affymetrix, Illumina [1117531] (imputed)	N
702	chr11	15457466	15457467	rs7114467	23667675	Tanikawa C	2013-05-07	PLoS One	Genome wide association study of age at menarche in the Japanese population.	Menarche (age at onset)	15,495 Japanese ancestry females	NA	11p15.2	INSC	rs7114467-A	0.45957	9E-6		0.0713	[0.040-0.103] year decrease	Illumina [2310762] (imputed)	N
702	chr11	15465859	15465860	rs10734234	25226531	St Pourcain B	2014-09-16	Nat Commun	Common variation near ROBO2 is associated with expressive vocabulary in infancy.	Expressive vocabulary in infants	6,851 European ancestry 15-18-month-old children, 6,299 European ancestry 24-30-month-old children	2,038 European ancestry 15-18-month-old children, 4,520 European ancestry 24-30-month-old children	11p15.2	INSC	rs10734234-T	0.9	2E-7	(15-18 months)	0.15	[0.095-0.205] unit decrease	Illumina [2449665] (imputed)	N
704	chr11	15620585	15620586	rs17439299	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.2	INSC	rs17439299-G	0.044	6E-6	(Diet protein )	0.03	[NR] g/d increase	Illumina [899892]	N
704	chr11	15694461	15694462	rs7117858	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	11p15.2	SOX6	rs7117858-G	0.20	6E-10		0.09	[0.06-0.12] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
704	chr11	15710083	15710084	rs7108738	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	11p15.2	SOX6	rs7108738-?	NR	1E-15	(FNK)			Affymetrix, Illumina [5842825] (imputed)	N
704	chr11	15710083	15710084	rs7108738	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	11p15.2	SOX6	rs7108738-T	0.83	1E-32	(FNBMD)	0.08	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
706	chr11	15865286	15865287	rs11023737	25199915	Broer L	2014-09-08	J Gerontol A Biol Sci Med Sci	GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.	Longevity (90 years and older)	6,036 European ancestry cases, 3,757 European ancestry controls	NA	11p15.2	SOX6	rs11023737-?	0.68	4E-6		1.2048193	[1.11-1.30]	Affymetrix, Illumina [2500000] (imputed)	N
706	chr11	15952293	15952294	rs11023787	21104366	Tan L	2010-11-23	Sci China Life Sci	A genome-wide association analysis implicates SOX6 as a candidate gene for wrist bone mass.	Bone mineral density (wrist)	1,000 European ancestry individuals	1,628 Chinese ancestry individuals	11p15.2	SOX6	rs11023787-T	0.04	5E-6				Affymetrix [379319]	N
707	chr11	16040174	16040175	rs16932455	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	11p15.2	SOX6	rs16932455-?	NR	2E-6				NR [~ 2000000]	N
708	chr11	16247474	16247475	rs2028162	25387707	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of antisaccade eye tracking error rate: A genome-wide association study.	Anti-saccade response	4,469 European ancestry twins and their parents	NA	11p15.2	SOX6	rs2028162-?	NR	6E-6		0.025	[0.013-0.037] unit decrease	Illumina [527829]	N
708	chr11	16250182	16250183	rs1401454	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	11p15.2	SOX6	rs1401454-T	0.46	5E-10	(DBP)	0.45	[0.25-0.65] unit increase	Affymetrix, Illumina [~ 2420000] (imputed)	N
708	chr11	16250182	16250183	rs1401454	23972371	Franceschini N	2013-08-20	Am J Hum Genet	Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.	Blood pressure	28,190 African American individuals, 1,188 Nigerian ancestry individuals	69,395 European ancestry individuals, 5,266 African American individuals, 6,497 African ancestry individuals, 19,601 East Asian ancestry individuals	11p15.2	SOX6	rs1401454-T	0.46	1E-6	(SBP)	0.55	[0.24-0.86] unit increase	Affymetrix, Illumina [~ 2420000] (imputed)	N
709	chr11	16302938	16302939	rs4757391	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	11p15.2	SOX6	rs4757391-C	0.28	5E-9		0.88	[0.59-1.17] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
709	chr11	16302938	16302939	rs4757391	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	11p15.2	SOX6	rs4757391-C	0.28	3E-6				Affymetrix, Illumina [2485448] (imputed)	N
709	chr11	16302938	16302939	rs4757391	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	11p15.2	SOX6	rs4757391-C	0.28	5E-9		0.49	[0.31-0.67] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
710	chr11	16389593	16389594	rs297325	19714249	Liu YZ	2009-08-28	PLoS One	Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males.	Obesity and osteoporosis	499 European ancestry male individuals, 501 European ancestry female individuals	1,370 European ancestry male individuals and 1,985 European ancestry female individuals from 975 families	11p15.2	SOX6	rs297325-C	0.23	4E-7	(BMI-BMD, males)			Affymetrix [379319]	N
710	chr11	16403510	16403511	rs4756846	19714249	Liu YZ	2009-08-28	PLoS One	Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males.	Obesity and osteoporosis	499 European ancestry male individuals, 501 European ancestry female individuals	1,370 European ancestry male individuals and 1,985 European ancestry female individuals from 975 families	11p15.2	SOX6	rs4756846-C	0.12	5E-7	(BMI-BMD, males)			Affymetrix [379319]	N
711	chr11	16559629	16559630	rs4287304	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	11p15.2	SOX6	rs4287304-C	NR	3E-9		0.1028	[NR] unit decrease	Illumina [11892802] (imputed)	N
713	chr11	16902267	16902268	rs381815	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	11p15.2	PLEKHA7	rs381815-T	0.30	7E-6	(Pulse Pressure)	0.236	[0.13-0.34] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
713	chr11	16902267	16902268	rs381815	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	11p15.2	PLEKHA7	rs381815-T	0.30	3E-8	(Mean Arterial Pressure)	0.298	[0.19-0.41] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
713	chr11	16902267	16902268	rs381815	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Systolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	11p15.2	PLEKHA7	rs381815-T	0.26	2E-9		0.65	[0.43-0.87] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
714	chr11	16917218	16917219	rs11024074	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Diastolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	11p15.2	PLEKHA7	rs11024074-T	0.72	1E-6		0.33	[0.19-0.47] mm Hg decrease	Affymetrix, Illumina [2533153] (imputed)	N
714	chr11	17008604	17008605	rs11024102	22922875	Vithana EN	2012-08-26	Nat Genet	Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.	Glaucoma (primary angle closure)	1,281 East Asian ancestry cases, 1,987 East Asian ancestry controls, 337 South Indian ancestry cases, 2,538 South Indian ancestry controls, 236 South East Asian ancestry cases, 5,083 South East Asian ancestry controls	1,545 East Asian ancestry cases, 3,756 East Asian ancestry controls, 165 Saudi Arabian ancestry cases, 175 Saudi Arabian ancestry controls, 127 European ancestry cases, 4,703 European ancestry controls, 80 Indian ancestry cases, 309 Indian ancestry controls	11p15.1	PLEKHA7	rs11024102-G	NR	5E-12		1.22	[NR]	Illumina [493501]	N
715	chr11	17115675	17115676	rs16933829	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	11p15.1	NR	rs16933829-C	NR	1E-6	(phenotype 1)	4.7619047	[NR]	Illumina [> 8000000] (imputed)	N
715	chr11	17115675	17115676	rs16933829	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	11p15.1	NR	rs16933829-C	NR	1E-6	(phenotype 3)	4.76	[NR]	Illumina [> 8000000] (imputed)	N
715	chr11	17160147	17160148	rs4356203	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	11p15.1	PIK3C2A	rs4356203-?		6E-9	(SCZ or BP vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
715	chr11	17160147	17160148	rs4356203	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	11p15.1	NR	rs4356203-?	NR	1E-7		1.09	[1.06-1.12]	Affymetrix, Illumina [1252901] (imputed)	N
716	chr11	17184622	17184623	rs2008905	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11p15.1	NR	rs2008905-T	NR	8E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
717	chr11	17316028	17316029	rs1330	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11p15.1	NUCB2	rs1330-T	0.35	5E-9		0.022	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
717	chr11	17403638	17403639	rs1557765	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.1	KCNJ11	rs1557765-C	0.601	6E-7		0.015	[0.0091-0.0213] kg/m2 increase	Affymetrix, Illumina [2550021]	N
717	chr11	17403638	17403639	rs1557765	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p15.1	KCNJ11	rs1557765-C	0.596	2E-6	(EA)	0.015	[0.0089-0.0211] kg/m2 increase	Affymetrix, Illumina [2550021]	N
717	chr11	17403638	17403639	rs1557765	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	11p15.1	KCNJ11	rs1557765-C	0.63	7E-6	(Age 8)	0.12	[0.061-0.179] unit increase	Illumina [2293137] (imputed)	N
717	chr11	17408629	17408630	rs5215	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	11p15.1	KCNJ11	rs5215-C	0.38	3E-11		1.08	[1.04-1.12]	Affymetrix, Illumina [2500000] (imputed)	N
717	chr11	17408629	17408630	rs5215	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	11p15.1	KCNJ11	rs5215-C	NR	4E-7		1.16	[1.09-1.23]	Affymetrix, Illumina [2202892] (imputed)	N
717	chr11	17408629	17408630	rs5215	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	11p15.1	KCNJ11	rs5215-C	NR	5E-11	(DGI+FUSION+WTCCC)	1.14	[1.10-1.19]	Affymetrix [393453]	N
717	chr11	17409571	17409572	rs5219	19056611	Timpson NJ	2008-12-03	Diabetes	Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.	Type 2 diabetes	958 European ancestry obese cases, 955 European ancestry non-obese cases, 2,938 European ancestry controls	Up to 3,757 European ancestry cases, up to 5,346 European ancestry controls	11p15.1	KCNJ11	rs5219-?	NR	5E-7	(obese)	1.19	[1.11-1.27]	Affymetrix [393453]	N
717	chr11	17409571	17409572	rs5219	19056611	Timpson NJ	2008-12-03	Diabetes	Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.	Type 2 diabetes	958 European ancestry obese cases, 955 European ancestry non-obese cases, 2,938 European ancestry controls	Up to 3,757 European ancestry cases, up to 5,346 European ancestry controls	11p15.1	KCNJ11	rs5219-?	NR	1E-9	(non-obese)	1.25	[1.16-1.34]	Affymetrix [393453]	N
717	chr11	17409571	17409572	rs5219	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	11p15.1	KCNJ11	rs5219-T	0.46	7E-11	(DGI+FUSION+WTCCC)	1.14	[1.10-1.19]	Illumina [315635]	N
717	chr11	17409571	17409572	rs5219	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Type 2 diabetes	1,464 European ancestry cases, 1,467 European ancestry controls	5,065 European ancestry cases, 5,785 European ancestry controls	11p15.1	KCNJ11	rs5219-T	0.47	1E-7		1.15	[1.09-1.21]	Affymetrix [386731]	N
719	chr11	17642128	17642129	rs78894156	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11p15.1	intergenic	rs78894156-G	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
720	chr11	17796110	17796111	rs60349741	24143882	Gelernter J	2013-10-19	Biol Psychiatry	Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways.	Opioid sensitivity	1,383 European ancestry cases, 996 European ancestry controls, 683 African American cases, 2,635 African American controls	2,116 European ancestry individuals, 4,496 African American individuals	11p15.1	KCNC1	rs60349741-?	0.06	5E-7	(AA)			Illumina [988306]	N
724	chr11	18265798	18265799	rs12282742	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	11p15.1	NR	rs12282742-?	NR	1E-6		1.6703	[NR]	Affymetrix [722112]	N
724	chr11	18285773	18285774	rs4638289	21124955	Marzi C	2010-11-18	PLoS Genet	Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.	Amyloid A serum levels	3,329 European ancestry individuals, 882 Sorbian individuals	2,136 European ancestry individuals	11p15.1	SAA1	rs4638289-A	0.32	3E-53		0.31	[0.27-0.35] unit increase	Affymetrix, Illumina [2593456] (imputed)	N
724	chr11	18291735	18291736	rs11024598	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	11p15.1	intergenic	rs11024598-G	0.4743	8E-6	(Case/control)	0.262	[0.15-0.38] unit increase	Affymetrix, Illumina [NR] (imputed)	N
724	chr11	18291735	18291736	rs11024598	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	11p15.1	intergenic	rs11024598-G	0.4741	9E-6	(Ordinal II)	0.2593	[0.14-0.37] unit increase	Affymetrix, Illumina [NR] (imputed)	N
724	chr11	18297562	18297563	rs2124379	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	11p15.1	intergenic	rs2124379-T	0.423	3E-6	(Ordinal I)	0.2774	[0.16-0.39] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
724	chr11	18323516	18323517	rs4353250	21124955	Marzi C	2010-11-18	PLoS Genet	Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.	Amyloid A serum levels	3,329 European ancestry individuals, 882 Sorbian individuals	2,136 European ancestry individuals	11p15.1	HPS5, GTF2H1	rs4353250-T	0.35	2E-51		0.27	[0.23-0.31] unit increase	Affymetrix, Illumina [2593456] (imputed)	N
724	chr11	18325145	18325146	rs2403254	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11p15.1	HPS5	rs2403254-T	0.55	1E-30	(alpha-hydroxyisovalerate)	0.041	[0.033-0.049] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
724	chr11	18325145	18325146	rs2403254	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	11p15.1	HPS5	rs2403254-T	0.525	1E-20	(alpha-hydroxyisovalerate + 6 other traits)	0.105	[NR] unit decrease	Affymetrix, Illumina [534665]	N
725	chr11	18357269	18357270	rs4150581	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	11p15.1	HPS5	rs4150581-A	0.45	2E-37	(3-(4-hydroxyphenyl)lactate/alpha-hydroxyisovalerate)	0.043	[0.037-0.049] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
725	chr11	18370897	18370898	rs4150642	21124955	Marzi C	2010-11-18	PLoS Genet	Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.	Amyloid A serum levels	3,329 European ancestry individuals, 882 Sorbian individuals	2,136 European ancestry individuals	11p15.1	HPS5, GTF2H1, LDHA, LDHC	rs4150642-G	0.2	3E-111		0.358	[0.26-0.46] unit increase	Affymetrix, Illumina [2593456] (imputed)	N
725	chr11	18384937	18384938	rs9783347	23180869	Wu C	2012-11-24	Gut	Genome-wide association study of survival in patients with pancreatic adenocarcinoma.	Pancreatic cancer	642 European ancestry cases	363 Chinese ancestry cases	11p15.1	GTF2H1	rs9783347-A	0.30	9E-6		1.36	[1.19-1.56]	Illumina [2731086] (imputed)	N
725	chr11	18419805	18419806	rs2896526	21124955	Marzi C	2010-11-18	PLoS Genet	Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.	Amyloid A serum levels	3,329 European ancestry individuals, 882 Sorbian individuals	2,136 European ancestry individuals	11p15.1	LDHA, LDHC	rs2896526-G	0.17	4E-22		0.221	[0.17-0.27] unit increase	Affymetrix, Illumina [2593456] (imputed)	N
725	chr11	18451095	18451096	rs3740713	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	11p15.1	LDHC	rs3740713-?		9E-6				Illumina [859311]	N
727	chr11	18632983	18632984	rs10128711	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	11p15.1	SPTY2D1	rs10128711-T	0.3	1E-11		0.031	[NR] unit decrease	NR [NR] (imputed)	N
727	chr11	18632983	18632984	rs10128711	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	11p15.1	SPTY2D1	rs10128711-T	0.29	3E-8		1.06	[0.63-1.49] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
727	chr11	18689652	18689653	rs12295403	22116950	Schuh-Huerta SM	2011-11-24	Hum Reprod	Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.	Ovarian reserve	232 European ancestry female individuals, 200 African American female individuals	NA	11p15.1	TMEM86A	rs12295403-?		5E-6	(AMH levels- AA)			Affymetrix [677261]	N
728	chr11	18822036	18822037	rs4627050	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)	176 Japanese ancestry cases, 471 Japanese ancestry controls	NA	11p15.1	PTPN5	rs4627050-G	0.649	4E-6	(Allelic model)	1.932	[1.452-2.572]	Illumina [733202]	N
730	chr11	19051871	19051872	rs7111562	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p15.1	NR	rs7111562-C	0.140150397945511	4E-7	(IGP23)	0.2417	[0.15-0.34] unit decrease	Illumina [~ 2500000] (imputed)	N
730	chr11	19051871	19051872	rs7111562	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p15.1	NR	rs7111562-C	0.139875874553571	2E-6	(IGP36)	0.2255	[0.13-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
734	chr11	19569562	19569563	rs874426	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	11p15.1	intergenic	rs874426-C	NR	4E-6	(earlier onset)			Perlegen [429981]	N
734	chr11	19584501	19584502	rs10500856	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.1	NAV2	rs10500856-G	0.0090	7E-6	(Height z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
734	chr11	19593805	19593806	rs11025185	25705159	Hong Y	2014-12-31	Genomics Inform	Genome-wide association study of hepatitis in korean populations.	Hepatitis	1,500 Korean ancestry cases, 1,500 Korean ancestry controls	NA	11p15.1	NAV2	rs11025185-A	NR	1E-9		1.15	[NR]	NR [352000]	N
734	chr11	19599970	19599971	rs10741780	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 susceptibility	496 African ancestry cases and 302 African ancestry exposed controls from serodiscordant couples	NA	11p15.1	AC023950.6	rs10741780-?	NR	6E-6				Illumina [990115]	N
739	chr11	20215755	20215756	rs10500871	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	11p15.1	intergenic	rs10500871-T	0.322	3E-6		0.022	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
739	chr11	20253598	20253599	rs1353649	25601762	Wang Y	2015-01-20	Pharmacogenomics J	Pharmacodynamic genome-wide association study identifies new responsive loci for glucocorticoid intervention in asthma.	Response to inhaled glucocorticoid treatment in asthma (percentage change of FEV1)	120 individuals	410 individuals	11p15.1	DBX1, NAV2, HTATIP2, PRMT3	rs1353649-?		6E-11				Affymetrix [266944]	N
739	chr11	20269389	20269390	rs1520896	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	11p15.1	intergenic	rs1520896-?		1E-6				NR [~ 3000000] (imputed)	N
740	chr11	20356443	20356444	rs7128099	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.1	HTATIP2	rs7128099-G	0.335	3E-6	(Adiponectin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
740	chr11	20378123	20378124	rs11025523	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.1	HTATIP2	rs11025523-A	0.091	7E-6	(Sedentary&light activity )	0.04	[NR] min/d increase	Illumina [899892]	N
741	chr11	20513724	20513725	rs80315173	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11p15.1	NR	rs80315173-?	NR	4E-7	(Japanese)	0.6257	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
741	chr11	20562518	20562519	rs7128311	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	11p15.1	intergenic	rs7128311-C	NR	5E-6		13.9	[2.72-71.1]	Affymetrix [476796]	N
742	chr11	20623022	20623023	rs2241941	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.1	SLC6A5	rs2241941-A	0.339	8E-6	(Methionine )	0.03	[NR] umol/L increase	Illumina [899892]	N
742	chr11	20684039	20684040	rs2139424	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	11p15.1	intergenic	rs2139424-?		7E-6				Affymetrix, Illumina [1348798]	N
742	chr11	20698928	20698929	rs1793004	17684544	Franke A	2007-08-08	PLoS One	Systematic association mapping identifies NELL1 as a novel IBD disease gene.	Crohn's disease	393 European ancestry cases, 399 European ancestry controls	375 European ancestry trios, 1,395 European ancestry cases, 1,603 European ancestry controls, 454 French Canadian founder trios, 466 French Canadian founder cases, 358 French Canadian founder controls	11p15.1	NELL1	rs1793004-?	0.27	3E-6		1.3	[1.12-1.52]	Affymetrix [92387]	N
745	chr11	20984204	20984205	rs61883261	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	11p15.1	NELL1	rs61883261-?	NR	9E-6	(SF2)			Affymetrix [5476100] (imputed)	N
745	chr11	21046426	21046427	rs35295995	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11p15.1	NR	rs35295995-?	NR	5E-6	(Native Hawaiian)	0.8108	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
745	chr11	21058730	21058731	rs4569005	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	11p15.1	NELL1	rs4569005-?	NR	5E-6	(Total LTG and PHT)			Illumina [NR]	N
748	chr11	21393858	21393859	rs7120820	25551457	Baumert J	2014-12-31	PLoS One	No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects.	Fibrinogen levels (smoking status, alcohol consumption or body mass index interaction)	up to 80,607 European ancestry individuals	NA	11p15.1	NELL1	rs7120820-T	0.376	2E-6	(BMI)	0.004	[-0.01364-0.02164] g/L increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
749	chr11	21504899	21504900	rs73469144	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11p15.1	NR	rs73469144-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
749	chr11	21565078	21565079	rs12279250	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	11p15.1	NELL-1	rs12279250-C	0.15	7E-9	(AA-triglyceride response)	28.2	[18.67-37.73] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
749	chr11	21620947	21620948	rs1573535	22823124	Verweij KJ	2012-07-24	Addict Biol	The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.	Cannabis use (initiation)	10,091 individuals from 4,622 families	NA	11p15.1	NELL1	rs1573535-A	0.56	4E-6		0.026	unit increase	Illumina [~ 2400000] (imputed)	N
750	chr11	21669292	21669293	rs10833583	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.1	NELL1	rs10833583-A	0.061	7E-6	(IGFBP-1 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
750	chr11	21677341	21677342	rs2051457	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p15.1	NELL1	rs2051457-A	0.096	5E-6	(Sleep duration )	0.03	[NR] min/d increase	Illumina [899892]	N
750	chr11	21708586	21708587	rs34402840	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11p15.1	NR	rs34402840-?	NR	9E-7	(AA)	1.5785	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
750	chr11	21708586	21708587	rs34402840	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11p15.1	NR	rs34402840-?	NR	9E-8	(AA)	1.5485	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
751	chr11	21874252	21874253	rs7122488	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	11p15.1	NELL1	rs7122488-T	0.238	7E-6	(IIV)	0.2	[0.1-0.3] unit decrease	Illumina [799713]	N
752	chr11	21896879	21896880	rs11026318	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		11p15.1	NR	rs11026318-A	0.07	9E-6	(Non-HD without IgH translocations vs. controls)	2.33	[1.60-3.38]	Illumina [414804]	N
752	chr11	21956957	21956958	rs111561475	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11p15.1	NR	rs111561475-?	NR	2E-6	(AA)	1.3324	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
753	chr11	22105029	22105030	rs11026407	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Plasma thyroid-stimulating hormone levels	2,789 Korean ancestry individuals	829 Korean ancestry individuals	11p14.3	ANO5	rs11026407-C	0.26	2E-8		0.125	[0.074-0.176] uIU/L decrease	Affymetrix [1418709] (imputed)	N
753	chr11	22114092	22114093	rs11026412	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	11p14.3	intergenic	rs11026412-?	NR	3E-6		1.16	[NR]	Illumina [2500000] (imputed)	N
755	chr11	22312565	22312566	rs11827962	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	11p14.3	ANO5, SLC17A6	rs11827962-C	NR	6E-6	(5 degree of freedom test)	1.044	[0.94-1.15]	NR [1252901] (imputed)	N
756	chr11	22525353	22525354	rs1514092	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11p14.3	NR	rs1514092-?	NR	3E-7		0.264	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
759	chr11	22829756	22829757	rs7111546	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	11p14.3	GAS2	rs7111546-?	0.44	2E-6		1.72	[1.37-2.16]	Affymetrix [832357]	N
759	chr11	22843154	22843155	rs712022	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	11p14.3	SVIP	rs712022-?	0.53	6E-6		1.61	[1.32-1.96]	Affymetrix [832357]	N
759	chr11	22898976	22898977	rs12364177	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11p14.3	NR	rs12364177-A	0.9552	1E-6	(Total trans-18:1, EA)	0.176	[0.1-0.25] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
760	chr11	23044591	23044592	rs10833905	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	11p14.3	intergenic	rs10833905-?	0.22	7E-7	(Recessive)	1.32	[1.18-1.47]	Affymetrix [319222]	N
764	chr11	23552452	23552453	rs11027293	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	11p14.3	SVIP	rs11027293-?	NR	7E-7	(Latino)	3.38	[2.90-3.86]	Affymetrix, Illumina [NR] (imputed)	N
764	chr11	23552452	23552453	rs11027293	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	11p14.3	SVIP	rs11027293-?	NR	7E-6		2.1	[1.52-2.91]	Affymetrix, Illumina [NR] (imputed)	N
765	chr11	23692426	23692427	rs117285774	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11p14.3	NR	rs117285774-?	NR	6E-6	(Native Hawaiian)	1.5042	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
767	chr11	23955312	23955313	rs7116456	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	11p14.3	intergenic	rs7116456-T	0.003	1E-7	(drinks/week)	0.929	[0.6-1.26] unit increase	Affymetrix [2500000] (imputed)	N
769	chr11	24236095	24236096	rs7106204	25628645	Tong Y	2015-01-13	Front Genet	Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs).	Response to Homoharringtonine (cytotoxicity)	93 African-American ancestry lymphoblastoid cell lines, 91 European ancestry lymphoblastoid cell lines, 94 Han Chinese ancestry lymphoblastoid cell lines	NA	11p14.3	intergenic	rs7106204-?		3E-6				Affymetrix, Illumina [6750581] (imputed)	N
770	chr11	24252527	24252528	rs16912285	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	11p14.3	LUZP2	rs16912285-G	0.10	7E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
771	chr11	24385568	24385569	rs12360997	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11p14.3	NR	rs12360997-G	NR	2E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
771	chr11	24403619	24403620	rs11027857	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	11p14.3	LUZP2	rs11027857-A	0.499	3E-9		1.064	[1.042-1.085]	Affymetrix, Illumina [9005918] (imputed)	N
772	chr11	24611129	24611130	rs12361953	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	11p14.3	LUZP2	rs12361953-C	0.15	8E-7				Affymetrix [614963]	N
773	chr11	24678818	24678819	rs4561213	20700443	Meyer TE	2010-08-05	PLoS Genet	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	Magnesium levels	15,366 European ancestry individuals	8,463 European ancestry individuals	11p14.3	LUZP2	rs4561213-G	0.53	3E-7		0.0	[0.002-0.006] mmol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
773	chr11	24739803	24739804	rs10834449	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	11p14.3	LUZP2	rs10834449-?,rs2716458-?,rs12798374-?,rs1021261-?	NR	8E-8	(Prader-Willi syndrome; verbal memory)			Illumina [795637]	N
773	chr11	24740433	24740434	rs2716458	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	11p14.3	LUZP2	rs10834449-?,rs2716458-?,rs12798374-?,rs1021261-?	NR	8E-8	(Prader-Willi syndrome; verbal memory)			Illumina [795637]	N
773	chr11	24741658	24741659	rs12798374	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	11p14.3	LUZP2	rs10834449-?,rs2716458-?,rs12798374-?,rs1021261-?	NR	8E-8	(Prader-Willi syndrome; verbal memory)			Illumina [795637]	N
773	chr11	24741756	24741757	rs1021261	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	11p14.3	LUZP2	rs10834449-?,rs2716458-?,rs12798374-?,rs1021261-?	NR	8E-8	(Prader-Willi syndrome; verbal memory)			Illumina [795637]	N
774	chr11	24809439	24809440	rs11028175	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	11p14.3	LUZP2	rs11028175-A	0.07	2E-7		0.87	[0.60-1.14] unit increase	Illumina [NR] (imputed)	N
774	chr11	24849565	24849566	rs10500991	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	11p14.3	LUZP2	rs10500991-?	NR	2E-6	(serum transferrin)			Illumina [315887]	N
776	chr11	25113780	25113781	rs11602337	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	11p14.3	intergenic	rs11602337-T	0.2923	8E-6		0.2943	[0.16-0.42] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
776	chr11	25134543	25134544	rs12788764	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	11p14.3	intergenic	rs12788764-C	NR	5E-6	(Fixed effect)	0.07	[0.05-0.09] unit decrease	Illumina [4736131] (imputed)	N
777	chr11	25207703	25207704	rs12794435	20852632	Goode EL	2010-09-19	Nat Genet	A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.	Ovarian cancer	1,768 European ancestry cases, 2,354 European ancestry controls	8,709 European ancestry cases, 51,764 European ancestry controls	11p14.3	NR	rs12794435-?	NR	5E-6		1.16	[1.09-1.23]	Illumina [2056878] (imputed)	N
777	chr11	25221598	25221599	rs113652043	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11p14.3	NR	rs113652043-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
779	chr11	25490481	25490482	rs10834691	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p14.3	NR	rs10834691-G	0.459134585485307	4E-6	(IGP22)	0.1479	[0.085-0.211] unit increase	Illumina [~ 2500000] (imputed)	N
783	chr11	26012231	26012232	rs4086867	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	11p14.3	RP11-405K6.1, ANO3	rs4086867-?	NR	2E-6	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
783	chr11	26045600	26045601	rs7932614	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Gait variability	2,946 individuals	NA	11p14.3	ANO3	rs7932614-A	0.57	4E-7	(stride length SD)	0.246	[0.15-0.34] unit decrease	Illumina [6200000] (imputed)	N
786	chr11	26346830	26346831	rs114444506	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-unrelated)	1,070 European ancestry cases, 4,118 European ancestry controls	Up to 1,034 European ancestry cases, Up to 1,645 European ancestry controls	11p14.2	ANO3	rs114444506-C	0.028	5E-14		2.03	[1.69-2.45]	Illumina [8129384] (imputed)	N
786	chr11	26346830	26346831	rs114444506	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	11p14.2	ANO3	rs114444506-C	0.028	2E-12		2.11	[1.72-2.60]	Illumina [8129524] (imputed)	N
786	chr11	26346830	26346831	rs114444506	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures	929 European ancestry MMR vaccine-related febrile seizures cases, 1,070 European ancestry MMR vaccine-unrelated febrile seizures cases, 4,118 European ancestry controls	Up to 408 European ancestry MMR vaccine-related febrile seizures cases, Up to 1,034 European ancestry MMR vaccine-unrelated febrile seizures cases, Up to 1,645 European ancestry controls	11p14.2	ANO3	rs114444506-C	0.028	4E-20	(Overall)	2.09	[1.79-2.44]	Illumina [up to 8129553] (imputed)	N
787	chr11	26605330	26605331	rs12295638	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	11p14.2	MUC15	rs12295638-C	0.10	4E-6		1.49	[1.26-1.77]	Illumina [457251]	N
789	chr11	26741261	26741262	rs7112383	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11p14.2	SLC5A12, ANO3, FIBIN	rs7112383-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
793	chr11	27336703	27336704	rs10160456	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	11p14.1	CCDC34, LGR4, LIN7C	rs10160456-C	0.38	8E-6	(Conditional)	0.0681	[0.038-0.098] unit increase	Illumina [~ 2500000] (imputed)	N
794	chr11	27453728	27453729	rs12804815	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	11p14.1	LGR4	rs12804815-G	0.98	5E-6	(women)	0.942	[0.54-1.35] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
794	chr11	27505676	27505677	rs10835187	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	11p14.1	LGR4, LIN7C	rs10835187-C	NR	3E-13	(EA)	0.1245	[0.091-0.158] unit increase	Illumina [~ 2500000] (imputed)	N
794	chr11	27505676	27505677	rs10835187	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	11p14.1	LGR4, LIN7C	rs10835187-C	0.47	2E-17		0.127	[0.098-0.156] unit increase	Illumina [~ 2500000] (imputed)	N
794	chr11	27505676	27505677	rs10835187	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	11p14.1	LIN7C	rs10835187-T	0.55	5E-8	(LSBMD)	0.03	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
795	chr11	27563381	27563382	rs988712	21708048	Jiao H	2011-06-28	BMC Med Genomics	Genome wide association study identifies KCNMA1 contributing to human obesity.	Obesity	164 European ancestry morbidly obese  individuals, 163 European ancestry lean individuals	4,674 European ancestry morbidly obese individuals, 5,663 European ancestry lean individuals	11p14.1	BDNF	rs988712-G	0.75	5E-17		1.36	[1.20-1.55]	Affymetrix [406177]	N
795	chr11	27583128	27583129	rs7481311	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	11p14.1	BDNF	rs7481311-T	0.24	3E-6		3.5	[2.03-4.97] percentage SD increase	Illumina [305846]	N
795	chr11	27583128	27583129	rs7481311	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	11p14.1	BDNF	rs7481311-T	0.24	8E-6		3.15	[1.78-4.52] % SD increase	Illumina [305846]	N
796	chr11	27667201	27667202	rs925946	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	11p14.1	BDNF	rs925946-T	0.34	4E-9		3.8	[2.55-5.05] percentage SD increase	Illumina [305846]	N
796	chr11	27667201	27667202	rs925946	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	11p14.1	BDNF	rs925946-T	0.34	9E-10		3.85	[2.62-5.08] % SD increase	Illumina [305846]	N
796	chr11	27679915	27679916	rs6265	20418890	The Tobacco and Genetics Consortium	2010-04-25	Nat Genet	Genome-wide meta-analyses identify multiple loci associated with smoking behavior.	Smoking behavior	Up to 74,035 European ancestry individuals	Up to 68,988 participants	11p14.1	BDNF	rs6265-C	0.79	2E-8	(smoking initiation)	1.06	[1.04-1.08]	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
796	chr11	27679915	27679916	rs6265	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	11p14.1	BDNF	rs6265-G	0.85	2E-7		4.0	[2.47-5.53] percentage SD increase	Illumina [305846]	N
796	chr11	27679915	27679916	rs6265	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	11p14.1	BDNF	rs6265-G	0.85	5E-10		4.58	[3.07-6.09] % SD increase	Illumina [305846]	N
796	chr11	27684516	27684517	rs11030104	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p14.1	BDNF	rs11030104-A	0.792	6E-28	(EA)	0.041	[0.034-0.049] kg/m2 increase	Affymetrix, Illumina [2550021]	N
796	chr11	27684516	27684517	rs11030104	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p14.1	BDNF	rs11030104-A	0.792	5E-19	(EA, men)	0.045	[0.035-0.054] kg/m2 increase	Affymetrix, Illumina [2550021]	N
796	chr11	27684516	27684517	rs11030104	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p14.1	BDNF	rs11030104-A	0.792	2E-15	(EA, women)	0.038	[0.029-0.048] kg/m2 increase	Affymetrix, Illumina [2550021]	N
796	chr11	27684516	27684517	rs11030104	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p14.1	BDNF	rs11030104-A	0.791	7E-30		0.042	[0.034-0.049] kg/m2 increase	Affymetrix, Illumina [2550021]	N
796	chr11	27684516	27684517	rs11030104	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	11p14.1	BDNF	rs11030104-A	0.55	2E-20		0.0478	[0.038-0.058] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr11	27700124	27700125	rs7103411	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11p14.1	BDNP, LGR4	rs7103411-C	0.21	3E-11		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
796	chr11	27725985	27725986	rs10767664	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	11p14.1	BDNF	rs10767664-A	0.78	5E-26		0.19	[0.13-0.25] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
796	chr11	27728538	27728539	rs2030323	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	11p14.1	BDNF	rs2030323-C	0.79	6E-11	(Obesity class II)	1.13	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
796	chr11	27728538	27728539	rs2030323	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	11p14.1	BDNF	rs2030323-C	0.79	5E-17	(Overweight)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
796	chr11	27728538	27728539	rs2030323	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	11p14.1	BDNF	rs2030323-C	0.79	3E-22	(Obesity class I)	1.12	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
796	chr11	27728538	27728539	rs2030323	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	11p14.1	BDNF	rs2030323-C	0.79	6E-10		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
796	chr11	27728538	27728539	rs2030323	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	11p14.1	BDNF	rs2030323-C	0.60	4E-16		0.046	[0.034-0.058] unit increase	Illumina [2178018] (imputed)	N
796	chr11	27747670	27747671	rs12288512	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption (cups per day)	91,462 European ancestry individuals	30,062 European ancestry individuals, 7,964 African American individuals	11p14.1	BDNF	rs12288512-A	NR	6E-7		0.04	[0.020-0.060] unit increase	Affymetrix, Illumina [2373958] (imputed)	N
798	chr11	28009462	28009463	rs1568889	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	11p14.1	NR	rs1568889-?	NR	2E-6	(recessive)			Affymetrix [NR]	N
800	chr11	28233767	28233768	rs11601602	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p14.1	METTL15	rs11601602-G	0.142	9E-6	(Dinner intake )	0.04	[NR] kcal increase	Illumina [899892]	N
807	chr11	29124181	29124182	rs16918636	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11p14.1	FSHB	rs16918636-T	0.79	3E-8		0.03	[0.018-0.042] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
807	chr11	29162135	29162136	rs1602565	18677311	O'Donovan MC	2008-07-30	Nat Genet	Identification of loci associated with schizophrenia by genome-wide association and follow-up.	Schizophrenia	479 European ancestry cases, 2,937 European ancestry controls	4,143 European ancestry cases, 6,515 European ancestry controls, 1,782 East Asian ancestry cases, 1,865 East Asian ancestry controls, 741 cases, 1,517 controls	11p14.1	intergenic	rs1602565-C	0.11	3E-6		1.16	[NR]	Affymetrix [362532]	N
807	chr11	29195136	29195137	rs1491818	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	11p14.1	intergenic	rs1491818-C	0.31	8E-6	(Joint)			Illumina [254145]	N
815	chr11	30215260	30215261	rs11031002	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	11p14.1	FSHB	rs11031002-A	0.121	4E-9	(LH)	0.221	[NR] unit increase	Illumina [7879351] (imputed)	N
815	chr11	30223573	30223574	rs607987	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p14.1	FSHB	rs607987-G	0.383	5E-6	(EA, men)	0.024	[0.014-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
815	chr11	30226355	30226356	rs11031005	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	11p14.1	FSHB	rs11031005-C	0.129	2E-8	(FSH)	0.232	[NR] unit decrease	Illumina [7879351] (imputed)	N
816	chr11	30378558	30378559	rs1765142	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11p14.1	NR	rs1765142-A	NR	2E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
816	chr11	30382898	30382899	rs12294104	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	11p14.1	NR	rs12294104-?	NR	6E-7	(LH)			Illumina [7879351] (imputed)	N
816	chr11	30382898	30382899	rs12294104	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	11p14.1	NR	rs12294104-?	NR	3E-7	(FSH)			Illumina [7879351] (imputed)	N
816	chr11	30382898	30382899	rs12294104	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	11p14.1	intergenic	rs12294104-T	0.172	1E-11		0.225	[0.16-0.29] years increase	Affymetrix, Illumina [2551160] (imputed)	N
817	chr11	30467499	30467500	rs11031093	21940522	Shaffer JR	2011-09-21	J Dent Res	Genome-wide association scan for childhood caries implicates novel genes.	Dental caries	1,305 European ancestry children	1,695 European ancestry children	11p14.1	MPPED2	rs11031093-?	NR	8E-6		1.36	[-0.73720-3.45720]	Illumina [1450678] (imputed)	N
817	chr11	30508107	30508108	rs545610	21940522	Shaffer JR	2011-09-21	J Dent Res	Genome-wide association scan for childhood caries implicates novel genes.	Dental caries	1,305 European ancestry children	1,695 European ancestry children	11p14.1	intergenic	rs545610-?	NR	9E-6		1.34	[-0.75720-3.43720]	Illumina [1450678] (imputed)	N
818	chr11	30564576	30564577	rs7121800	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	11p14.1	MPPED2	rs7121800-T	0.3458	7E-6		0.7138	[NR] unit increase	Illumina [1216074] (imputed)	N
819	chr11	30749089	30749090	rs963837	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	11p14.1	DCDC5, MPPED2	rs963837-T	0.64	3E-9		0.0037	[0.0025-0.0049] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
819	chr11	30749089	30749090	rs963837	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	11p14.1	DCDC5, MPPED2	rs963837-T	0.64	1E-9		0.0043	[0.0029-0.0057] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
819	chr11	30760334	30760335	rs3925584	22479191	Pattaro C	2012-03-29	PLoS Genet	Genome-wide association and functional follow-up reveals new loci for kidney function.	Chronic kidney disease	74,354  European ancestry individuals	56,246 European ancestry individuals	11p14.1	MPPED2	rs3925584-?	NR	8E-18		0.0075	[0.0057-0.0093] ml/min/1.73m^2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
819	chr11	30760334	30760335	rs3925584	20700443	Meyer TE	2010-08-05	PLoS Genet	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	Magnesium levels	15,366 European ancestry individuals	8,463 European ancestry individuals	11p14.1	DCDC5	rs3925584-C	0.45	5E-16		0.01	[0.004-0.008] mmol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
819	chr11	30768677	30768678	rs10767873	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	11p14.1	DCDC5, MPPED2l	rs10767873-C	0.69	5E-16		0.0068	[0.0052-0.0084] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
821	chr11	30951673	30951674	rs163879	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	11p14.1	DCDC5	rs163879-T	0.68	2E-11	(LSBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
823	chr11	31210770	31210771	rs16921914	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	11p13	DCDC5	rs16921914-A	0.27	2E-9		0.08	[0.05-0.11] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
824	chr11	31409437	31409438	rs542340	25027321	Hoffmann TJ	2014-07-15	Hum Mol Genet	Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.	Glaucoma	658 African American prevalent cases, 1,062 African American incident cases, 6,067 African American controls, 153 Hispanic prevalent cases, 336 Hispanic incident cases, 2,685 Hispanic controls	NA	11p13	DNAJC24	rs542340-G	0.018	8E-9	(AA)	1.95	[1.55-2.44]	Affymetrix [up to 15784307] (imputed)	N
825	chr11	31532958	31532959	rs555091	25027321	Hoffmann TJ	2014-07-15	Hum Mol Genet	Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.	Glaucoma	658 African American prevalent cases, 1,062 African American incident cases, 6,067 African American controls, 153 Hispanic prevalent cases, 336 Hispanic incident cases, 2,685 Hispanic controls	NA	11p13	ELP4	rs555091-C	0.018	2E-8	(AA)	1.92	[1.53-2.41]	Affymetrix [up to 15784307] (imputed)	N
826	chr11	31663881	31663882	rs11031436	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	11p13	ELP4	rs11031436-T	0.22	6E-10		0.033	[0.023-0.043] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
826	chr11	31663881	31663882	rs11031436	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	11p13	ELP4	rs11031436-T	0.22	2E-6	(EA)	0.029	[0.017-0.041] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
828	chr11	31884918	31884919	rs11031492	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/5-HIAA ratio)	up to 398 European ancestry individuals	NA	11p13	RCN1, DKFZp686K1684	rs11031492-G		4E-6		0.2196	unit increase	Illumina [5767231] (imputed)	N
828	chr11	31905533	31905534	rs652722	22344219	Wen W	2012-02-19	Nat Genet	Meta-analysis identifies common variants associated with body mass index in east Asians.	Body mass index	22,762 East Asian ancestry individuals, 2,522 Malay ancestry individuals, 2,431 Chinese, Malay and Asian Indian ancestry individuals	53,215 East Asian ancestry results, 2,118 Malay ancestry individuals	11p13	PAX6	rs652722-C	0.61	8E-8		2.75	[1.24-4.26] % increase	Affymetrix, Illumina [2474474] (imputed)	N
831	chr11	32364186	32364187	rs2057178	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls, (see Thye 2010)	NA	11p13	WT1	rs2057178-?	NR	1E-12	(binary model)			Affymetrix [1009364] (imputed)	N
831	chr11	32364186	32364187	rs2057178	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	11p13	WT1	rs2057178-A	0.92	3E-6		1.6129	[NR]	Affymetrix [up to 4467279] (imputed)	N
831	chr11	32364186	32364187	rs2057178	22306650	Thye T	2012-02-05	Nat Genet	Common variants at 11p13 are associated with susceptibility to tuberculosis.	Tuberculosis	1,329 African ancestry cases, 1,847 African ancestry controls	2,024 African ancestry cases, 5,154 African ancestry controls, 1,025 Indonesian ancestry cases, 983 Indonesian ancestry controls, 4,441 European ancestry cases, 5,874 European ancestry controls	11p13	WT1	rs2057178-?	NR	3E-11		1.1	[1.01-1.22] Russian samples	Affymetrix [793964]	N
833	chr11	32522006	32522007	rs10767942	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	11p13	intergenic	rs10767942-?	NR	8E-6	(count)			Perlegen [429981]	N
835	chr11	32895663	32895664	rs10767971	19772629	Latourelle JC	2009-09-22	BMC Med Genet	Genomewide association study for onset age in Parkinson disease.	Parkinson's disease (age of onset)	857 European ancestry familial cases, 440 idiopathic cases	747 European ancestry idiopathic cases	11p13	QSER1, PRRG4	rs10767971-T	NR	5E-7		3.24	[NR] years increase	Illumina, Perlegen [1861750] (imputed)	N
839	chr11	33325375	33325376	rs16924133	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	11p13	TCP11L1, HIPK3, CSTF3	rs16924133-A	0.028	2E-6	(Temperament)	0.38	[NR] unit increase	Affymetrix [677643]	N
841	chr11	33588209	33588210	rs10437629	21423239	Willour VL	2011-03-25	Mol Psychiatry	A genome-wide association study of attempted suicide.	Suicide attempts in bipolar disorder	1,201 European and unknown ancestry attempters, 1,497 European and unknown ancestry non-attempters	1,295 attempters, 1,822 non-attempters	11p13	C11orf41	rs10437629-?	NR	4E-6		1.34	[NR]	Affymetrix, Illumina [2408051] (imputed)	N
842	chr11	33806821	33806822	rs11825259	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	11p13	FBXO3	rs11825259-A	0.88	4E-6	(AA)	0.21	[0.11-0.31] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
843	chr11	33868606	33868607	rs11032423	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	11p13	LMO2	rs11032423-?	0.04637	8E-6	(IED)			Illumina [475971]	N
848	chr11	34555190	34555191	rs836132	23279374	Athanasiadis G	2013-01-02	J Thromb Haemost	Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.	&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels	306 European ancestry individuals	NA	11p13	ELF5	rs836132-C	0.15	5E-8		0.65	unit increase	Illumina [283437]	N
849	chr11	34605434	34605435	rs5028798	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Volumetric brain MRI	705 European ancestry individuals	NA	11p13	EHF	rs5028798-?	NR	3E-6	(ATBV)			Affymetrix [70897]	N
849	chr11	34655362	34655363	rs286913	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment	738 European ancestry, African American, and other ancestry cases	NA	11p13	EHF	rs286913-?	0.05	7E-8	(Ziprasidone, vigilance)			Affymetrix [492900]	N
849	chr11	34662960	34662961	rs286905	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p13	EHF	rs286905-A	0.311	4E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
850	chr11	34764478	34764479	rs1355223	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	11p13	EHF	rs1355223-?		4E-6	(lcSSc)	1.12	[NR]	Illumina [NR]	N
850	chr11	34780935	34780936	rs10466455	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	11p13	EHF	rs10466455-T	0.58	2E-7		1.3774	[1.3-1.47]	Illumina [NR]	N
850	chr11	34805848	34805849	rs7929679	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	11p13	APIP, EHF	rs7929679-G	0.49	7E-9	(CC16)			Illumina [588352]	N
850	chr11	34834203	34834204	rs12793173	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	11p13	APIP, EHF	rs12793173-C	0.24	1E-9	p.Phe508del/p.Phe508del only			Illumina [~ 2609000] (imputed)	N
851	chr11	34881634	34881635	rs146771634	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	11p13	NR	rs146771634-?		5E-7	(PCB156)	1.15	[0.7-1.6] unit decrease	Illumina [8736858] (imputed)	N
852	chr11	35093069	35093070	rs2785197	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	11p13	CD44	rs2785197-C	0.74	2E-7		1.2346		Illumina [2100739] (imputed)	N
852	chr11	35123050	35123051	rs1559759	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	11p13	CD44	rs1559759-A	0.15	9E-6	(EA-triglyceride response)	25.59	[14.3-36.88] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
853	chr11	35155731	35155732	rs2785173	22437554	Major JM	2012-03-21	J Nutr	Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.	Response to Vitamin E supplementation	2,112 European ancestry individuals	NA	11p13	CD44	rs2785173-T	0.02	3E-6	(change in alpha-TOH)	1.94	[1.12-2.76] unit increase	Illumina [549989]	N
854	chr11	35280851	35280852	rs10768122	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	11p13	CD44	rs10768122-G	0.41	2E-9		1.22	[NR]	Illumina [495821]	N
854	chr11	35329614	35329615	rs3794087	22764253	Thier S	2012-07-03	Neurology	Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.	Essential tremor	436 European ancestry cases, 928 European ancestry controls	554 European ancestry cases, 609 European ancestry controls	11p13	SLC1A2	rs3794087-?	NR	1E-7		1.43	[1.26-1.64]	Affymetrix [620077]	N
854	chr11	35351638	35351639	rs4083482	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	11p13	SLC1A2	rs4083482-T	0.039	2E-6		0.03	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
855	chr11	35495440	35495441	rs1996369	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	11p13	PAMR1, SLC1A2	rs1996369-?	0.21	9E-6		0.27	[0.15-0.39] unit increase	Illumina [2095209]	N
856	chr11	35539268	35539269	rs650950	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	11p13	PAMR1	rs650950-G	0.29	2E-6	(Hispanic)	1.55	[NR]	Illumina [1795103]	N
857	chr11	35701235	35701236	rs7928794	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	11p13	TRIM44	rs7928794-?	NR	8E-6	(SAS)			Affymetrix [492000]	N
861	chr11	36286829	36286830	rs149502810	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11p13	NR	rs149502810-?	NR	3E-7	(AA)	1.9023	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
862	chr11	36336262	36336263	rs2218565	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	11p13	PRR5L	rs2218565-?	NR	2E-6	(Shared)			Affymetrix, Illumina [~ 5200000]	N
863	chr11	36501786	36501787	rs331463	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11p12	TRAF6, RAG1, RAG2	rs331463-T	0.87	3E-7		1.1	[1.06-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
863	chr11	36501786	36501787	rs331463	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11p12	TRAF6, RAG1, RAG2	rs331463-T	0.85	1E-7	(EA)	1.12	[1.07-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
863	chr11	36506868	36506869	rs10501157	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11p12	NR	rs10501157-?	NR	7E-9	(Japanese)	0.8987	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
865	chr11	36790684	36790685	rs1474107	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11p12	NR	rs1474107-?	NR	5E-10	(Japanese)	1.0047	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
867	chr11	37012536	37012537	rs391317	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	11p12	Intergeic	rs391317-?	NR	5E-7	(MCP1-TNF-a pattern postfenofibrate)			Affymetrix [2543887] (imputed)	N
873	chr11	37870980	37870981	rs16930685	21478494	Nan H	2011-04-09	Hum Mol Genet	Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.	Cutaneous nevi	9,136 European ancestry individuals	3,581 European ancestry individuals	11p12	C11orf74	rs16930685-C	0.10	2E-6		0.1	[0.06-0.14] unit increase	Affymetrix, Illumina [2318094] (imputed)	N
877	chr11	38278949	38278950	rs5004866	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	11p12	intergenic	rs5004866-T		2E-6		0.3029	unit decrease	Illumina [5767231] (imputed)	N
877	chr11	38285500	38285501	rs10836945	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	11p12	LOC100129825, LOC100289139	rs10836945-G	0.48	8E-6	(AA)	2.1739	[NR]	Illumina [1795103]	N
877	chr11	38288592	38288593	rs11034653	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	11p12	LOC100132631	rs11034653-A		2E-7	(EA)			Illumina [NR]	N
882	chr11	39031792	39031793	rs7951105	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Free thyroxine concentration	2,789 Korean ancestry individuals	829 Korean ancestry individuals	11p12	intergenic	rs7951105-T	0.15	5E-7		0.161	[0.098-0.224] ng/dl decrease	Affymetrix [1418709] (imputed)	N
885	chr11	39327958	39327959	rs12808199	20548944	Hsu YH	2010-06-10	PLoS Genet	An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.	Osteoporosis-related phenotypes	2,038 European ancestry female individuals, 1,531 European ancestry male individuals	5,595 European ancestry female individuals, 2,126 European ancestry male individuals	11p12	LRRC4C	rs12808199-G	0.43	9E-7	(FN BMD, men)	0.21	[NR] g/cm2 decrease	Affymetrix [433510]	N
885	chr11	39426098	39426099	rs12292796	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Pulse pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	11p12	intergenic	rs12292796-C	0.07	3E-7	(drinks/week)	0.003	[-0.00288-0.00888] unit decrease	Affymetrix [2500000] (imputed)	N
889	chr11	39908661	39908662	rs11035577	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	11p12	LRRC4C	rs11035577-?	NR	6E-6	(Dysthymic)	1.03	[NR] unit decrease	Affymetrix [703012]	N
896	chr11	40837712	40837713	rs4611189	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	11p12	intergenic	rs4611189-?	0.03	6E-7	(quetiapine)			Affymetrix [492900]	N
896	chr11	40876585	40876586	rs78015633	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11p12	NR	rs78015633-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
899	chr11	41225432	41225433	rs2862035	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p12	NR	rs2862035-C	0.0246322445734703	8E-6	(IGP18)	0.4382	[0.25-0.63] unit decrease	Illumina [~ 2500000] (imputed)	N
899	chr11	41225953	41225954	rs980952	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p12	NR	rs980952-G	0.975374875668449	5E-6	(IGP25)	0.4489	[0.26-0.64] unit increase	Illumina [~ 2500000] (imputed)	N
904	chr11	41820449	41820450	rs10768747	26114229	Ashley-Koch AE	2015-06-12	J Affect Disord	Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.	Post-traumatic stress disorder	949 non-Hispanic black individuals, 759 European ancestry individuals	NA	11p12	intergenic	rs10768747-?	NR	5E-6	AA	1.66	[NR]	Illumina [up to 5616481] (imputed)	N
904	chr11	41852663	41852664	rs1484948	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	11p12	intergenic	rs1484948-G	0.32	2E-6		0.16	[0.10-0.22] unit increase	Illumina [~ 318327]	N
904	chr11	41915365	41915366	rs9300039	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	11p12	intergenic	rs9300039-C	0.89	6E-8		1.48	[1.28-1.71]	Illumina [315635]	N
907	chr11	42225826	42225827	rs77124415	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	11p12	NR	rs77124415-C	NR	5E-6		0.059	[0.034-0.084] unit increase	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
907	chr11	42315885	42315886	rs7394570	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	11p12	LOC387761	rs7394570-?		1E-6	(EA)			Illumina [NR]	N
908	chr11	42378925	42378926	rs10400317	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11p12	NR	rs10400317-T	0.5858	8E-7	(Cis/trans-18:2, EA)	0.0054	[0.0032-0.0076] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
911	chr11	42738722	42738723	rs142850025	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	11p12	intergenic	rs142850025-G	NR	6E-6	(Fixed effect)	0.19	[0.11-0.27] unit decrease	Illumina [4736131] (imputed)	N
912	chr11	42874001	42874002	rs4129601	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	11p12	intergenic	rs4129601-G	0.03	2E-6			[NR]	Affymetrix [398699]	N
913	chr11	43086093	43086094	rs10501293	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	11p12	API5	rs10501293-?	0.2494	5E-6	(SWM strategy)			Illumina [475971]	N
914	chr11	43236060	43236061	rs12365397	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	11p12	intergenic	rs12365397-?	0.68	9E-6		1.05	[1.03-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
917	chr11	43576066	43576067	rs11037473	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Birth length	28,459 European ancestry individuals	16,145 European ancestry individuals, 280 Moroccan ancestry individuals, 284 Surinamese ancestry individuals, 319 Turkish ancestry individuals, 651 Chinese ancestry individuals	11p11.2	TTC17, HSD17B12	rs11037473-A	0.07	1E-6		0.069	[0.042-0.096] unit decrease	Affymetrix, Illumina [2201971] (imputed)	N
918	chr11	43648367	43648368	rs4237643	24929828	Loth DW	2014-06-15	Nat Genet	Genome-wide association analysis identifies six new loci associated with forced vital capacity.	Forced vital capacity	52,253 European ancestry indiviudals	32,917 European ancestry individuals, 6,070 African American individuals, 849 Hispanic individuals, 8,637 East Asian ancestry individuals	11p11.2	HSD17B12	rs4237643-T	0.311	4E-8	(EA)	16.666	[10.74-22.59] ml decrease	Affymetrix, Illumina [2762059] (imputed)	N
918	chr11	43728329	43728330	rs11037575	22941191	Diskin SJ	2012-09-02	Nat Genet	Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.	Neuroblastoma	2,101 European ancestry cases, 4,202 European ancestry controls	351 European ancestry cases, 780 European ancestry controls, 365 African American cases, 2,491 African American controls	11p11.2	HSD17B12	rs11037575-C	0.407	5E-8		1.231	[NR]	Illumina [426697]	N
919	chr11	43864277	43864278	rs2176598	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p11.2	HSD17B12	rs2176598-T	0.256	3E-8		0.019	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
919	chr11	43864277	43864278	rs2176598	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p11.2	HSD17B12	rs2176598-T	0.252	4E-7	(EA, men)	0.024	[0.014-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
919	chr11	43864277	43864278	rs2176598	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p11.2	HSD17B12	rs2176598-T	0.251	3E-8	(EA)	0.02	[0.013-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
921	chr11	44087988	44087989	rs2074038	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	11p11.2	ACCS	rs2074038-T	0.288	4E-9		1.136	[1.089-1.185]	Illumina [3792949] (imputed)	N
922	chr11	44285430	44285431	rs117526668	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	11p11.2	NR	rs117526668-T	NR	9E-6	(phenotype 1)	3.19	[NR]	Illumina [> 8000000] (imputed)	N
922	chr11	44285430	44285431	rs117526668	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	11p11.2	NR	rs117526668-T	NR	9E-6	(phenotype 3)	3.19	[NR]	Illumina [> 8000000] (imputed)	N
923	chr11	44378155	44378156	rs11037965	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	11p11.2	ALX4	rs11037965-T	0.07	3E-7	(MAP, response to intervention)	1.4	[0.87-1.93] mmHg decrease	Affymetrix [2216774] (imputed)	N
923	chr11	44378155	44378156	rs11037965	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium intervention)	1,840 Han Chinese ancestry individuals	659 Han Chinese ancestry individuals	11p11.2	ALX4	rs11037965-T	0.07	2E-6	(DBP, response to intervention)	1.4	[0.83-1.97] mmHg decrease	Affymetrix [2216774] (imputed)	N
925	chr11	44603327	44603328	rs730129	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	11p11.2	CD82	rs730129-T	0.30	7E-6	(AT levels)	2.55	[1.43-3.67] iu/ml decrease	Illumina [472123]	N
927	chr11	44843133	44843134	rs11038167	22037552	Yue WH	2011-10-30	Nat Genet	Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2.	Schizophrenia	746 Han Chinese ancestry cases, 1,599 Han Chinese ancestry controls	4,027 Han Chinese ancestry cases, 5,603 Han Chinese ancestry controls	11p11.2	TSPAN18	rs11038167-?	NR	1E-11		1.29	[1.23-1.36]	Illumina [493203]	N
928	chr11	45084530	45084531	rs7951911	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11p11.2	NR	rs7951911-G	0.0838039874720358	8E-6	(IGP59)	0.2689	[0.15-0.39] unit decrease	Illumina [~ 2500000] (imputed)	N
930	chr11	45227566	45227567	rs17723470	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	11p11.2	PRDM11	rs17723470-T	0.279	9E-11	(TSH)	0.065	[0.045-0.085] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
930	chr11	45227566	45227567	rs17723470	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	11p11.2	PRDM11	rs17723470-T	0.279	3E-7	(TSH - Females)	0.069	[0.044-0.094] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
930	chr11	45250731	45250732	rs2863171	24929828	Loth DW	2014-06-15	Nat Genet	Genome-wide association analysis identifies six new loci associated with forced vital capacity.	Forced vital capacity	52,253 European ancestry indiviudals	32,917 European ancestry individuals, 6,070 African American individuals, 849 Hispanic individuals, 8,637 East Asian ancestry individuals	11p11.2	PRDM11	rs2863171-C	0.158	9E-10	(EA)	23.924	[16.27-31.58] ml increase	Affymetrix, Illumina [2762059] (imputed)	N
931	chr11	45438373	45438374	rs10742752	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p11.2	SYT13	rs10742752-C	0.616	7E-6		0.014	[0.0076-0.0194] kg/m2 increase	Affymetrix, Illumina [2550021]	N
931	chr11	45438373	45438374	rs10742752	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p11.2	SYT13	rs10742752-C	0.612	7E-6	(EA)	0.014	[0.008-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
932	chr11	45528115	45528116	rs1488665	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11p11.2	FLJ41423	rs1488665-A	0.105	5E-6	(Urinary free norepinephrine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
932	chr11	45550752	45550753	rs74360883	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11p11.2	NR	rs74360883-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
934	chr11	45813580	45813581	rs12285276	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	11p11.2	SLC35C1, CRY2	rs12285276-G	0.76	9E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
934	chr11	45873090	45873091	rs11605924	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	11p11.2	CRY2	rs11605924-?	NR	4E-15				Affymetrix, Illumina [~ 2400000] (imputed)	N
934	chr11	45873090	45873091	rs11605924	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	11p11.2	CRY2	rs11605924-A	0.49	1E-14	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
935	chr11	45947463	45947464	rs10838532	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	11p11.2	PHF21A, PEX16, MAPK8IP1, LOC143678, SLC35C1, GYLTL1B, CRY2	rs10838532-C	0.248	2E-6		0.0603	[0.035-0.085] unit increase	Illumina [2500000] (imputed)	N
936	chr11	46052574	46052575	rs16938437	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	11p11.2	PHF21A	rs16938437-T	0.09	6E-8		3.7	[2.33-5.07] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
937	chr11	46150618	46150619	rs4756059	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11p11.2	PHF21A	rs4756059-T	0.92	5E-13		0.07	[0.05-0.09] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
937	chr11	46228648	46228649	rs1565411	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11p11.2	NR	rs1565411-G	NR	9E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
938	chr11	46373310	46373311	rs7951870	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11p11.2	NR	rs7951870-C	NR	4E-11		1.098901	[NR]	Illumina [7158791] (imputed)	N
938	chr11	46379441	46379442	rs11038871	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	11p11.2	DGKZ, MDK, AMBRA1, HARBI1, ATG13, F2, CKAP5	rs11038871-C	0.248	2E-6		1.36	[1.19-1.55]	Illumina [2057134] (imputed)	N
941	chr11	46722220	46722221	rs7932354	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	11p11.2	ARHGAP1	rs7932354-T	0.31	5E-18	(FNBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
941	chr11	46722220	46722221	rs7932354	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	11p11.2	ARHGAP1	rs7932354-T	0.29	4E-9		0.07	[0.05-0.09] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
941	chr11	46743246	46743247	rs3136441	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11p11.2	LRP4	rs3136441-C	0.18	7E-29		0.054	[NR] unit increase	NR [NR] (imputed)	N
941	chr11	46743246	46743247	rs3136441	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	11p11.2	LRP4, NR1H3	rs3136441-C	0.15	3E-18		0.78	[0.58-0.98] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
941	chr11	46761054	46761055	rs1799963	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls	11p11.2	F2	rs1799963-A	0.010	2E-9		2.29	[1.75-2.99]	Affymetrix, Illumina [6751884] (imputed)	N
942	chr11	46849359	46849360	rs1007738	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (hip)	6,865 European ancestry individuals	8,510 European ancestry individuals	11p11.2	LRP4	rs1007738-A	0.77	7E-7		0.08	[0.05-0.11] s.d. decrease	Illumina [305051]	N
942	chr11	46893107	46893108	rs2306029	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	11p11.2	LRP4	rs2306029-C	0.448	8E-6		0.0269	[NR] % decrease	Affymetrix, Illumina [2522393] (imputed)	N
943	chr11	46929953	46929954	rs10838634	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11p11.2	NR	rs10838634-A	NR	5E-8		1.1	[NR]	Illumina [7158791] (imputed)	N
944	chr11	47127152	47127153	rs7117404	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	11p11.2	C11orf49	rs7117404-G	0.153	9E-6		0.0398	[NR] % decrease	Affymetrix, Illumina [2522393] (imputed)	N
944	chr11	47176004	47176005	rs747650	24399259	He L	2014-01-07	Nat Commun	Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne.	Acne (severe)	1,031 Han Chinese ancestry cases, 1,031 Han Chinese ancestry controls	1,860 Han Chinese ancestry cases, 3,660 Han Chinese ancestry controls	11p11.2	DDB2	rs747650-G	0.3242	4E-9	(fixed effect model)	1.24	[1.16-1.34]	Illumina [809305]	N
945	chr11	47232037	47232038	rs11039131	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11p11.2	NR	rs11039131-C	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
945	chr11	47246396	47246397	rs7395581	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	11p11.2	MADD	rs7395581-G	0.35	2E-21		0.059	[0.047-0.071] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
945	chr11	47275063	47275064	rs10838681	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	11p11.2	NR1H3	rs10838681-G	0.64	1E-9	(HDL)	0.08	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
945	chr11	47286289	47286290	rs7120118	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	HDL cholesterol	4,763 Northern Finnish founder individuals	NA	11p11.2	NR1H3	rs7120118-G	0.42	4E-8		0.04	[0.03-0.05] mmol/l increase	Illumina [329091]	N
945	chr11	47293798	47293799	rs10501320	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	11p11.2	MADD	rs10501320-G	0.72	1E-88				Affymetrix, Illumina [~ 2500000] (imputed)	N
945	chr11	47312891	47312892	rs10838687	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	11p11.2	MADD	rs10838687-T	0.80	7E-12				Affymetrix, Illumina [~ 2500000] (imputed)	N
946	chr11	47336319	47336320	rs7944584	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	11p11.2	MADD	rs7944584-?	NR	4E-12				Affymetrix, Illumina [~ 2400000] (imputed)	N
946	chr11	47336319	47336320	rs7944584	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	11p11.2	MADD	rs7944584-A	0.75	2E-18	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
946	chr11	47373424	47373425	rs2856656	24357727	Rocanin-Arjo A	2013-12-19	Blood	A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.	Thrombin generation potential phenotypes	714 European ancestry venous thrombosis cases, 1,253 European ancestry individuals	714 European ancestry venous thrombosis cases, 543 European ancestry individuals	11p11.2	MYBPC3	rs2856656-C	NR	5E-22	(ETP)	0.189	[0.15-0.23] nM/min increase	NR [6652054] (imputed)	N
946	chr11	47440757	47440758	rs2293579	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	11p11.2	PSMC3	rs2293579-A	0.40	8E-8	(EA)	0.0093	[0.0060-0.0126] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
946	chr11	47440757	47440758	rs2293579	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	11p11.2	PSMC3	rs2293579-A	0.40	1E-7		0.0086	[0.0055-0.0117] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
946	chr11	47441512	47441513	rs10838708	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	11p11.2	PSMC3	rs10838708-G	0.53	2E-9		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
947	chr11	47468544	47468545	rs12419342	25173106	Hysi PG	2014-08-31	Nat Genet	Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.	Intraocular pressure	7,738 Asian ancestry individuals, 27,558 European ancestry individuals	NA	11p11.2	RAPSN	rs12419342-C	NR	5E-9		0.153	[0.10-0.20] mm Hg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
947	chr11	47557870	47557871	rs10838725	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	11p11.2	CELF1	rs10838725-C	0.316	1E-8		1.08	[1.05-1.11]	Illumina [7055881] (imputed)	N
948	chr11	47650992	47650993	rs3817334	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p11.2	MTCH2	rs3817334-T	0.409	2E-11	(EA, women)	0.027	[0.019-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
948	chr11	47650992	47650993	rs3817334	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p11.2	MTCH2	rs3817334-T	0.407	5E-17	(EA)	0.026	[0.02-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
948	chr11	47650992	47650993	rs3817334	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p11.2	MTCH2	rs3817334-T	0.405	2E-10	(EA, men)	0.026	[0.018-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
948	chr11	47650992	47650993	rs3817334	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11p11.2	MTCH2	rs3817334-T	0.401	1E-17		0.026	[0.02-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
948	chr11	47650992	47650993	rs3817334	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	11p11.2	MTCH2, NDUFS3, CUGBP1	rs3817334-T	0.41	2E-12		0.06	[0.02-0.10] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
948	chr11	47663048	47663049	rs10838738	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	11p11.2	MTCH2	rs10838738-G	0.34	5E-9		0.07	[0.01-0.13] kg/m2 increase	Affymetrix, Illumina [2399588] (imputed)	N
950	chr11	47940924	47940925	rs747782	25173106	Hysi PG	2014-08-31	Nat Genet	Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.	Intraocular pressure	7,738 Asian ancestry individuals, 27,558 European ancestry individuals	NA	11p11.2	NUP160, AGBL2, PTPRJ, SPI1	rs747782-C	NR	1E-11		0.203	[0.14-0.26] mm Hg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
950	chr11	47969151	47969152	rs1681630	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	11p11.2	PTPRJ	rs1681630-T	0.34	2E-20		0.029	[0.023-0.035] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
951	chr11	48064193	48064194	rs138315285	24357727	Rocanin-Arjo A	2013-12-19	Blood	A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.	Thrombin generation potential phenotypes	714 European ancestry venous thrombosis cases, 1,253 European ancestry individuals	714 European ancestry venous thrombosis cases, 543 European ancestry individuals	11p11.2	NR	rs138315285-A	NR	6E-11	(Peak)	35.81	[25.11-46.51] nM increase	NR [6652054] (imputed)	N
951	chr11	48091302	48091303	rs10838798	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	11p11.2	PTPRJ	rs10838798-T	0.31	7E-12		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
951	chr11	48098279	48098280	rs10838801	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11p11.2	PTPRJ/SLC39A13	rs10838801-A	0.69	4E-12		0.027	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
952	chr11	48115088	48115089	rs3942852	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	11p11.2	PTPRJ	rs3942852-T	0.78	1E-6	(ETV6-RUNX1 positive)	1.2987013	[1.12-1.47]	Affymetrix [355750]	N
952	chr11	48115088	48115089	rs3942852	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	11p11.2	PTPRJ	rs3942852-C	0.22	5E-7	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
952	chr11	48174011	48174012	rs10838809	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11p11.2	NR	rs10838809-?	NR	3E-6	(Japanese)	0.3947	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
952	chr11	48207258	48207259	rs11039571	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	11p11.2	PTPRJ	rs11039571-G	0.131	9E-6		0.039	[NR] % decrease	Affymetrix, Illumina [2522393] (imputed)	N
953	chr11	48332027	48332028	rs12282928	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	11p11.2	intergenic	rs12282928-?	0.77	9E-6		1.14	[1.08-1.2]	Affymetrix, Illumina [~ 2300000] (imputed)	N
953	chr11	48333359	48333360	rs1483121	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	11p11.2	OR4S1	rs1483121-?		2E-8				Affymetrix, Illumina [~ 2400000] (imputed)	N
954	chr11	48382470	48382471	rs1351696	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	11p11.2	OR4C45	rs1351696-G	0.135	8E-6		0.0382	[NR] % decrease	Affymetrix, Illumina [2522393] (imputed)	N
955	chr11	48518892	48518893	rs7395662	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	11p11.2	FOLH1, MADD	rs7395662-G	0.61	6E-11		0.07	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
955	chr11	48540222	48540223	rs11039798	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	11p11.2	OR4A47	rs11039798-A	0.1345	4E-6		0.0883	[0.051-0.126] unit increase	Illumina [2500000] (imputed)	N
963	chr11	49559171	49559172	rs1814175	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11p11.12	FOLH1	rs1814175-T	0.34	2E-8		0.022	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
977	chr11	51394931	51394932	rs1391576	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q11	OR4A5	rs1391576-T	0.115	3E-7	(EA, men)	0.033	[0.02-0.046] kg/m2 increase	Affymetrix, Illumina [2550021]	N
977	chr11	51414217	51414218	rs5017948	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11q11	OR4A5	rs5017948-A	0.18	3E-8		0.027	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
978	chr11	51512089	51512090	rs11246602	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11q11	OR4C46	rs11246602-C	0.15	2E-10		0.034	[NR] unit increase	NR [NR] (imputed)	N
1005	chr11	55136218	55136219	rs7927370	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	11q11	OR4A15	rs7927370-?	0.94	7E-6	(anti-dsDNA -)	1.92	[1.45-2.56]	Illumina [421318] (imputed)	N
1007	chr11	55312532	55312533	rs1459104	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q11	OR4C15	rs1459104-A	0.114	3E-6	(EA, men)	0.03	[0.018-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1011	chr11	55862090	55862091	rs2945816	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	11q12.1	OR812	rs2945816-?	NR	2E-8	(proportions)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
1011	chr11	55895744	55895745	rs2220004	23910658	McRae JF	2013-07-31	Curr Biol	Identification of regions associated with variation in sensitivity to food-related odors in the human genome.	Odorant perception (&beta;-damascenone)	187 European ancestry individuals	89 European ancestry individuals	11q12.1	OR5BN1P	rs2220004-?		2E-7		5.51	[NR] unit increase	Affymetrix [619656]	N
1012	chr11	56019924	56019925	rs17150243	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q12.1	OR5T3	rs17150243-C	0.158	9E-6	(TC )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1013	chr11	56175670	56175671	rs1945213	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	11q12.1	OR8U8	rs1945213-G	0.69	4E-8	(ETV6-RUNX1 positive)	1.2820514	[1.14-1.45]	Affymetrix [355750]	N
1013	chr11	56175670	56175671	rs1945213	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	11q12.1	OR8U8	rs1945213-G	0.69	3E-8		1.2987013	[1.19-1.43]	Affymetrix [355750]	N
1013	chr11	56175670	56175671	rs1945213	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	11q12.1	OR8U8	rs1945213-C	0.31	9E-11	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
1014	chr11	56242260	56242261	rs7939886	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		11q12.1	intergenic	rs7939886-?	0.906	2E-7			[NR]	Affymetrix, Illumina [152234]	N
1015	chr11	56440235	56440236	rs11228719	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	11q12.1	NR	rs11228719-?	NR	4E-6	(CP)	1.64	[1.32-2.04]	Illumina [NR]	N
1015	chr11	56466098	56466099	rs1397048	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	11q12.1	OR5AR1, OR9G1, OR9G4, OR5AP2	rs1397048-?	0.4	7E-8	(MCH)			Affymetrix [70897]	N
1016	chr11	56556459	56556460	rs1789001	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	11q12.1	OR9G4	rs1789001-A	NR	7E-7	(Cases)	0.079	[0.032-0.126] unit increase	Illumina [6900000] (imputed)	N
1021	chr11	57174558	57174559	rs7124	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	11q12.1	PRG2	rs7124-?	NR	8E-6	(MCRI)	8.24	[4.69-11.79] unit increase	Illumina [693128]	N
1021	chr11	57203008	57203009	rs11229030	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	11q12.1	SLC43A3, PRG2, PRG3	rs11229030-C	0.305	8E-9		1.15	[1.10-1.39]	Affymetrix, Illumina [1060934] (imputed)	N
1022	chr11	57365722	57365723	rs28362944	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q12.1	SERPING1	rs28362944-G	0.022	9E-6	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
1023	chr11	57510293	57510294	rs9420	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q12.1	NR	rs9420-A	NR	2E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
1023	chr11	57510293	57510294	rs9420	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	11q12.1	BTBD18, C11orf31, CLP1, CTNND1, MED19, SERPING1, TMX2, YPEL4, ZDHHC5	rs9420-A	0.311	2E-9		1.068	[1.045-1.092]	Affymetrix, Illumina [9005918] (imputed)	N
1027	chr11	58060191	58060192	rs12289961	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	11q12.1	LPXN	rs12289961-T	NR	4E-8	(LYM)	1.29	[1.17-1.40]	Affymetrix [530583]	N
1027	chr11	58060191	58060192	rs12289961	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	11q12.1	LPXN	rs12289961-T	NR	1E-7	(NHL)	1.29	[1.17-1.42]	Affymetrix [530583]	N
1028	chr11	58082608	58082609	rs113196862	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11q12.1	NR	rs113196862-?	NR	7E-7	(Native Hawaiian)	0.6231	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1030	chr11	58331841	58331842	rs112960054	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11q12.1	NR	rs112960054-?	NR	1E-6	(Native Hawaiian)	0.6103	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1030	chr11	58339123	58339124	rs10896794	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	11q12.1	CNTF, LPXN	rs10896794-T	0.762	7E-10		1.08	[1.045-1.116]	Affymetrix, Illumina [1230000] (imputed)	N
1030	chr11	58347764	58347765	rs948562	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	11q12.1	ZFP91-CNTF	rs948562-G	NR	6E-7	(LYM)	1.29	[1.16-1.43]	Affymetrix [530583]	N
1030	chr11	58347764	58347765	rs948562	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	11q12.1	ZFP91-CNTF	rs948562-G	NR	3E-7	(NHL)	1.32	[1.18-1.46]	Affymetrix [530583]	N
1030	chr11	58408686	58408687	rs11229555	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q12.1	NR	rs11229555-C	0.75	1E-8	(EA)	1.0858196		Affymetrix, Illumina [~ 9000000] (imputed)	N
1030	chr11	58408686	58408687	rs11229555	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q12.1	NR	rs11229555-C	0.75	5E-12	(EA)	1.0819354		Affymetrix, Illumina [~ 9000000] (imputed)	N
1030	chr11	58408686	58408687	rs11229555	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q12.1	NR	rs11229555-A	0.75	1E-6	(EA)	1.0702233		Affymetrix, Illumina [~ 9000000] (imputed)	N
1031	chr11	58472798	58472799	rs2507838	23108985	Guo YF	2012-10-30	Hum Genet	Suggestion of GLYAT gene underlying variation of bone size and body lean mass as revealed by a bivariate genome-wide association study.	Body mass (lean)	1,627 Han Chinese individuals	2,286 European ancestry individuals	11q12.1	GLYAT	rs2507838-A	0.03	2E-8	(ALM-ABS)			Affymetrix [689368]	N
1036	chr11	59130111	59130112	rs149914843	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11q12.1	NR	rs149914843-?	NR	3E-9	(Japanese)	1.3074	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1036	chr11	59224143	59224144	rs7943953	23910658	McRae JF	2013-07-31	Curr Biol	Identification of regions associated with variation in sensitivity to food-related odors in the human genome.	Odorant perception (&beta;-ionone)	187 European ancestry individuals	Up to 109 Asian ancestry individuals	11q12.1	OR4D6	rs7943953-?		1E-31		14.75	[NR] unit decrease	Affymetrix [619656]	N
1039	chr11	59623377	59623378	rs34324219	25147783	Keene KL	2014-08-06	Front Public Health	Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.	Vitamin B levels in ischemic stroke	1,725 European ancestry cases, 258 African ancestry cases, 117 cases	NA	11q12.1	TCN1	rs34324219-A	0.104	5E-11	(Vitamin B12)	0.292	[NR] unit decrease	Illumina [737081]	N
1039	chr11	59633492	59633493	rs526934	19744961	Hazra A	2009-09-10	Hum Mol Genet	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	Folate pathway vitamin levels	3,305 European ancestry females, 1,458 European ancestry males	NA	11q12.1	TCN1	rs526934-?	0.27	2E-10	(Plasma Vitamin B12)	0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1039	chr11	59633492	59633493	rs526934	19303062	Tanaka T	2009-03-18	Am J Hum Genet	Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.	Folate pathway vitamin levels	2,934 European ancestry individuals	686 European ancestry individuals	11q12.1	TCN1	rs526934-A	0.67	2E-6	(vitamin B12)	27.62	[11.65-43.59] pg/mL increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1041	chr11	59837191	59837192	rs2298585	22367966	Lin X	2012-02-24	Hum Mol Genet	Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.	Vitamin B12 levels	1,999 Han Chinese ancestry individuals	1,496 Chinese ancestry individuals	11q12.1	MS4A3	rs2298585-?	NR	3E-15		71.8	[54.08-89.52] pg/ml increase	Illumina [1940245] (imputed)	N
1041	chr11	59838620	59838621	rs474951	24755620	Perez-Palma E	2014-04-22	PLoS One	Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.	Alzheimer's disease	2,540 European ancestry cases, 2,029 European ancestry controls	NA	11q12.1	MS4A3	rs474951-T		1E-6		1.2658	[NR]	Affymetrix, Illumina [1216213] (imputed)	N
1042	chr11	59923507	59923508	rs983392	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	11q12.2	MS4A6A	rs983392-A	0.597	6E-16		1.1111	[1.09-1.15]	Illumina [7055881] (imputed)	N
1042	chr11	59939306	59939307	rs610932	21460840	Hollingworth P	2011-04-03	Nat Genet	Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.	Alzheimer's disease	6,688 European ancestry cases, 13,685 European ancestry controls	13,182 European ancestry cases, 26,161 European ancestry controls	11q12.2	MS4A4E, MS4A6A	rs610932-?	0.58	2E-14		1.11	[1.09-1.15]	Affymetrix, Illumina [496763]	N
1042	chr11	59997665	59997666	rs600550	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity and mass	6,851 European ancestry individuals	13,664 European ancestry individuals	11q12.2	MS4A4E	rs600550-T	0.38	2E-11	(activity)	0.0137	[0.0068-0.0206] ng/ml decrease	Illumina [796174]	N
1042	chr11	60021947	60021948	rs1582763	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	11q12.2	MS4, MS4A6A, MS4A4A, MS4A6E	rs1582763-G	0.63	2E-9		1.1494253	[1.1-1.2]	NR [NR]	N
1042	chr11	60023086	60023087	rs1562990	21627779	Antunez C	2011-05-31	Genome Med	The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.	Alzheimer's disease	319 European ancestry cases, 769 European ancestry controls, 2,690 cases, 2,237 controls	4,982 European ancestry cases, 7,961 European ancestry controls, 2,190 cases, 3,374 controls	11q12.2	MS4A	rs1562990-?	0.58	4E-11		1.14	[1.10-1.18]	Affymetrix, Illumina [696707] (imputed)	N
1043	chr11	60034428	60034429	rs4938933	21460841	Naj AC	2011-04-03	Nat Genet	Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	8,309 European ancestry cases, 7,366 European ancestry controls	10,523 European ancestry cases, 28,231 European ancestry controls	11q12.2	MS4A4A	rs4938933-?	0.61	8E-12		1.12	[1.09-1.15]	Affymetrix, Illumina [2324889] (imputed)	N
1043	chr11	60041988	60041989	rs77406754	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11q12.2	NR	rs77406754-?	NR	9E-7				Affymetrix [5486770] (imputed)	N
1045	chr11	60312862	60312863	rs1941027	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	11q12.2	MS4A13	rs1941027-C		4E-6		0.04	[0.02-0.04] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1045	chr11	60387017	60387018	rs117509195	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q12.2	NR	rs117509195-G	NR	5E-6		1.1764705	[NR]	Illumina [7158791] (imputed)	N
1047	chr11	60592275	60592276	rs595018	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	11q12.2	CCDC86	rs595018-A	0.216	2E-7		1.46	[1.27-1.69]	Illumina [287802]	N
1048	chr11	60760611	60760612	rs17824933	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	11q12.2	CD6	rs17824933-G	0.25	4E-9		1.18	[1.07-1.30]	Affymetrix, Illumina [~ 2560000] (imputed)	N
1048	chr11	60776208	60776209	rs11230563	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q12.2	NR	rs11230563-G	0.65	2E-8	(EA)	1.077956		Affymetrix, Illumina [~ 9000000] (imputed)	N
1048	chr11	60776208	60776209	rs11230563	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q12.2	NR	rs11230563-G	0.65	2E-14	(EA)	1.0845813		Affymetrix, Illumina [~ 9000000] (imputed)	N
1048	chr11	60776208	60776209	rs11230563	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q12.2	NR	rs11230563-A	0.65	4E-11	(EA)	1.0883777		Affymetrix, Illumina [~ 9000000] (imputed)	N
1048	chr11	60776208	60776209	rs11230563	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	11q12.2	CD5, CD6, PTGDR2	rs11230563-C	0.654	9E-13		1.085	[1.053-1.118]	Affymetrix, Illumina [1230000] (imputed)	N
1048	chr11	60793650	60793651	rs4939490	21244703	Wang JH	2011-01-18	Genome Med	Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.	Multiple sclerosis	2,124 cases, 6,720 controls	1,618 cases, 1,988 controls	11q12.2	CD6	rs4939490-?	NR	1E-9		1.3	[1.19-1.42]	Affymetrix, Illumina [~ 2560000] (imputed)	N
1049	chr11	60832281	60832282	rs650258	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	11q12.2	CD5, CD6	rs650258-G	NR	2E-11		1.12	[1.1-1.13]	Illumina [465434]	N
1049	chr11	60906449	60906450	rs508970	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11q12.2	CD5	rs508970-A	0.49	3E-6	(EA)	1.07	[1.04-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1053	chr11	61417471	61417472	rs1692120	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	DAGLA	rs1692120-A	NR	1E-8	(ALA)	0.01	[NR] % decrease	Affymetrix, Illumina [NR]	N
1054	chr11	61485155	61485156	rs10488693	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11q12.2	NR	rs10488693-?	NR	7E-8	(Japanese)	0.8403	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1054	chr11	61490485	61490486	rs198426	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	DAGLA	rs198426-T	NR	3E-9	(DPA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
1054	chr11	61494326	61494327	rs4963243	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	11q12.2	DAGLA	rs4963243-A		2E-7	(AA)			Illumina [NR]	N
1054	chr11	61543498	61543499	rs174528	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174528-T	0.632	4E-12	(Cis/trans-18:2, EA)	0.003	[0.0022-0.0038] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61543960	61543961	rs174529	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174529-C	0.39	4E-20		0.056	[0.044-0.068] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1054	chr11	61543960	61543961	rs174529	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174529-T	0.61	1E-11		0.041	[0.029-0.053] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1054	chr11	61547236	61547237	rs108499	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs108499-T	0.3345	5E-11	(Cis/trans-18:2, EA)	0.0029	[0.0021-0.0037] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61548558	61548559	rs509360	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs509360-A	0.3148	6E-10	(Cis/trans-18:2, EA)	0.0031	[0.0021-0.0041] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61549457	61549458	rs174534	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174534-A	0.6658	4E-11	(Cis/trans-18:2, EA)	0.0029	[0.0021-0.0037] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61551355	61551356	rs174535	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174535-T	0.6692	1E-13	(Cis/trans-18:2, EA)	0.0031	[0.0023-0.0039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61551355	61551356	rs174535	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	11q12.2	C11orf9, C11orf10, FADS2, FADS1, FEN1	rs174535-?	0.33	2E-12	(OA)	0.138	[NR] unit increase	Affymetrix [~ 2500000] (imputed)	N
1054	chr11	61551355	61551356	rs174535	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs174535-T	0.67	3E-36	(1-linoleoylglycerophosphoethanolamine)	0.044	[0.036-0.052] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61551355	61551356	rs174535	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs174535-T	0.66	2E-94	(1-arachidonoylglycerophosphocholine)	0.056	[0.05-0.062] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61551355	61551356	rs174535	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	C11orf9	rs174535-T	NR	6E-58	(Eicosapentaenoic acid)	0.08	[NR] % increase	Affymetrix, Illumina [NR]	N
1054	chr11	61551355	61551356	rs174535	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	C11orf9	rs174535-T	NR	1E-151	(DPA)	0.07	[NR] % increase	Affymetrix, Illumina [NR]	N
1054	chr11	61551926	61551927	rs174536	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	MYRF, FADS1, FADS2, FADS3	rs174536-A	0.673	5E-59	(Phosphatidylcholine diacyl C36:5)	0.1315	[0.12-0.15] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61551926	61551927	rs174536	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174536-A	0.6693	1E-13	(Cis/trans-18:2, EA)	0.0031	[0.0023-0.0039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61551926	61551927	rs174536	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	C11orf9	rs174536-A	NR	1E-63	(a-linolenic acid)	0.02	[NR] % decrease	Affymetrix, Illumina [NR]	N
1054	chr11	61552679	61552680	rs174537	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q12.2	NR	rs174537-A	0.3313	2E-12	(EA)	1.0922968	[1.07-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1054	chr11	61552679	61552680	rs174537	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	MYRF, FADS1, FADS2, FADS3	rs174537-T	0.3202	3E-19	(Phosphatidylcholine diacyl C36:2)	0.0356	[0.028-0.043] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61552679	61552680	rs174537	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174537-T	0.3296	8E-14	(Cis/trans-18:2, EA)	0.0031	[0.0023-0.0039] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61552679	61552680	rs174537	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	11q12.2	MYRF, FADS1, FADS2, FEN1	rs174537-G	0.59	9E-21	(East Asian)	1.16	[1.12-1.19]	Affymetrix, Illumina [2400000] (imputed)	N
1054	chr11	61557802	61557803	rs102275	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	TMEM258, FADS1, FADS2, FADS3	rs102275-T	0.6805	3E-37	(Phosphatidylcholine diacyl C42:4)	0.0628	[0.053-0.072] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61557802	61557803	rs102275	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	TMEM258, FADS1, FADS2, FADS3	rs102275-T	0.6789	1E-55	(Phosphatidylcholine acyl-alkyl C40:4)	0.0681	[0.06-0.077] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61557802	61557803	rs102275	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	TMEM258, FADS1, FADS2, FADS3	rs102275-T	0.6785	3E-44	(Phosphatidylcholine acyl-alkyl C40:5)	0.0605	[0.052-0.069] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61557802	61557803	rs102275	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	TMEM258, FADS1, FADS2, FADS3	rs102275-T	0.6782	2E-38	(Phosphatidylcholine acyl-alkyl C42:5)	0.057	[0.048-0.066] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61557802	61557803	rs102275	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	TMEM258, FADS1, FADS2, FADS3	rs102275-T	0.6762	1E-82	(Phosphatidylcholine acyl-alkyl C38:4)	0.0799	[0.072-0.088] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61557802	61557803	rs102275	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	TMEM258, FADS1, FADS2, FADS3	rs102275-T	0.6742	2E-34	(Phosphatidylcholine acyl-alkyl C44:5)	0.0636	[0.053-0.074] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61557802	61557803	rs102275	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	TMEM258, FADS1, FADS2, FADS3	rs102275-T	0.6734	2E-41	(Phosphatidylcholine acyl-alkyl C44:6)	0.0693	[0.059-0.079] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61557802	61557803	rs102275	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	TMEM258, FADS1, FADS2, FADS3	rs102275-T	0.6724	2E-42	(Phosphatidylcholine diacyl C40:4)	0.0694	[0.059-0.079] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61557802	61557803	rs102275	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs102275-T	0.6688	2E-13	(Cis/trans-18:2, EA)	0.0031	[0.0023-0.0039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61557802	61557803	rs102275	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	8,631 European ancestry individuals	NA	11q12.2	FTH1, INCENP, FADS1, FADS2, SCGB2A1, SCGB1D1, SCGB2A2, RAB3IL1, AHNAK, C11orf9, DAGLA, FEN1, FADS3, SYT7, BEST1	rs102275-C	0.30	7E-147	(Conditioned on rs174547)	2.49	[2.29-2.69] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61557802	61557803	rs102275	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		11q12.2	FADS1, FADS2, FEN1, C11orf10, FADS3	rs102275-C	0.322	1E-20		0.1798	[0.142-0.218] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61557802	61557803	rs102275	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		11q12.2	C11orf0, C11orf9, FADS1, FADS2, FEN1	rs102275-T	0.329	7E-13		0.024	[0.017-0.03] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61557802	61557803	rs102275	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		11q12.2	C11orf9, FADS1, FADS2, FEN1, C11orf10, FADS3, RAB3IL1	rs102275-C	0.328	2E-32		0.23	[0.192-0.268] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61557802	61557803	rs102275	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs102275-?	0.43	4E-264				Illumina [~ 2000000] (imputed)	N
1054	chr11	61557802	61557803	rs102275	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs102275-?	NR	1E-203	(levels)	0.0	[0.80-23.0] % increase	Illumina [NR] (imputed)	N
1054	chr11	61557802	61557803	rs102275	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	C11orf10	rs102275-T	NR	8E-153	(DPA)	0.07	[NR] % increase	Affymetrix, Illumina [NR]	N
1054	chr11	61557802	61557803	rs102275	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	C11orf10	rs102275-T	NR	7E-64	(ALA)	0.02	[NR] % decrease	Affymetrix, Illumina [NR]	N
1054	chr11	61557802	61557803	rs102275	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	11q12.2	FADS1	rs102275-C	0.341	2E-11		1.08	[1.04-1.12]	Affymetrix, Illumina [953241] (imputed)	N
1054	chr11	61557802	61557803	rs102275	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	11q12.2	C11orf10	rs102275-?	0.20	6E-7	(HDL)			Illumina [308011]	N
1054	chr11	61560080	61560081	rs174538	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174538-A	0.2955	1E-12	(Cis/trans-18:2, EA)	0.0031	[0.0023-0.0039] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61560080	61560081	rs174538	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs174538-A	0.3	9E-14	(docosapentaenoate (n3 DPA; 22:5n3))	0.026	[0.018-0.034] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61560080	61560081	rs174538	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	C11orf10	rs174538-A	NR	5E-58	(EPA)	0.08	[NR] % decrease	Affymetrix, Illumina [NR]	N
1054	chr11	61564298	61564299	rs4246215	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs4246215-T	0.349	5E-13	(Cis/trans-18:2, EA)	0.0031	[0.0023-0.0039] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61564298	61564299	rs4246215	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	11q12.2	FEN1, C11orf9, C11orf10, FADS2, FADS1	rs4246215-?	0.36	1E-9	(ALA)	0.113	[NR] unit increase	Affymetrix [~ 2500000] (imputed)	N
1054	chr11	61564298	61564299	rs4246215	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	11q12.2	C11orf9, FADS1, FADS2	rs4246215-T	0.338	2E-15		1.079	[1.046-1.112]	Affymetrix, Illumina [1230000] (imputed)	N
1054	chr11	61564298	61564299	rs4246215	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	11q12.2	FEN1	rs4246215-T	NR	3E-10		2.451	[1.69-3.22] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61564298	61564299	rs4246215	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FEN1	rs4246215-T	NR	9E-60	(ALA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
1054	chr11	61564298	61564299	rs4246215	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FEN1	rs4246215-T	NR	6E-55	(EPA)	0.08	[NR] % decrease	Affymetrix, Illumina [NR]	N
1054	chr11	61564298	61564299	rs4246215	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FEN1	rs4246215-T	NR	1E-139	(DPA)	0.07	[NR] % decrease	Affymetrix, Illumina [NR]	N
1054	chr11	61565907	61565908	rs174541	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174541-T	0.6495	4E-13	(Cis/trans-18:2, EA)	0.0031	[0.0023-0.0039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61565907	61565908	rs174541	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	11q12.2	FEN1, C11orf10, FADS1, C11orf9, FADS2	rs174541-?	0.36	3E-19	(DTA)	0.177	[NR] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1054	chr11	61565907	61565908	rs174541	23378610	Xie W	2013-02-01	Diabetes	Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.	Metabolite levels	1,004 European ancestry individuals	339 European ancestry individuals	11q12.2	FADS1, FADS2, FEN1, FADS3	rs174541-T	0.65	3E-9	(adrenate)	0.28	[0.19-0.37] unit increase	Affymetrix [909508] (imputed)	N
1054	chr11	61569305	61569306	rs174545	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174545-C	0.6702	7E-14	(Cis/trans-18:2, EA)	0.0031	[0.0023-0.0039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61569305	61569306	rs174545	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	11q12.2	FADS1, C11orf10, C11orf9, FADS2, FEN1, FADS3, RAB3IL1	rs174545-?	0.33	8E-90	(AA)	0.374	[NR] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1054	chr11	61569829	61569830	rs174546	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174546-T	0.3239	6E-20	(Phosphatidylcholine diacyl C40:6)	0.0592	[0.046-0.072] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61569829	61569830	rs174546	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174546-T	0.3216	3E-95	(Phosphatidylcholine diacyl C38:5)	0.1041	[0.094-0.114] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61569829	61569830	rs174546	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174546-T	0.3302	6E-14	(Cis/trans-18:2, EA)	0.0032	[0.0024-0.004] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61569829	61569830	rs174546	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174546-T	0.36	7E-38		0.045	[NR] mg/dL increase	NR [NR] (imputed)	N
1054	chr11	61569829	61569830	rs174546	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174546-T	0.36	2E-39		0.051	[NR] unit decrease	NR [NR] (imputed)	N
1054	chr11	61569829	61569830	rs174546	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174546-T	0.36	8E-28		0.039	[NR] unit decrease	NR [NR] (imputed)	N
1054	chr11	61569829	61569830	rs174546	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174546-T	0.36	3E-37		0.048	[NR] unit decrease	NR [NR] (imputed)	N
1054	chr11	61569829	61569830	rs174546	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	11q12.2	FADS1	rs174546-A	0.18	6E-7	(HDL)	0.03	[0.02-0.04] mmol/l decrease	Illumina [308011]	N
1054	chr11	61569829	61569830	rs174546	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174546-T	0.34	5E-24		3.82	[3.08-4.56] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1054	chr11	61569829	61569830	rs174546	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174546-T	0.35	1E-21		1.71	[1.34-2.08] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1054	chr11	61569829	61569830	rs174546	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174546-T	0.36	2E-22		0.73	[0.57-0.89] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1054	chr11	61569829	61569830	rs174546	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174546-C	0.34	2E-22		1.78	[1.39-2.17] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1054	chr11	61569829	61569830	rs174546	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	LDL cholesterol	4,763 Northern Finnish founder individuals	NA	11q12.2	FADS1, FADS2	rs174546-A	0.44	1E-7		0.1	[0.06-0.13] mmol/l decrease	Illumina [329091]	N
1054	chr11	61570782	61570783	rs174547	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Sphingolipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-T	0.6798	5E-12	(Sphingomyeline C16:1)	0.026	[0.019-0.033] unit increase	Affymetrix, Illumina [up to 296619] (imputed)	N
1054	chr11	61570782	61570783	rs174547	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Sphingolipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-T	0.6782	6E-11	(Sphingomyeline C18:1)	0.0295	[0.021-0.038] unit increase	Affymetrix, Illumina [up to 296619] (imputed)	N
1054	chr11	61570782	61570783	rs174547	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-T	0.6803	9E-141	(Phosphatidylcholine diacyl C36:4)	0.1157	[0.11-0.12] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61570782	61570783	rs174547	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-T	0.6793	9E-172	(Phosphatidylcholine diacyl C38:4)	0.1408	[0.13-0.15] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61570782	61570783	rs174547	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-T	0.6792	2E-70	(Phosphatidylcholine acyl-alkyl C38:5)	0.0764	[0.068-0.085] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61570782	61570783	rs174547	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-T	0.6783	5E-84	(Phosphatidylcholine acyl-alkyl C36:5)	0.0992	[0.089-0.109] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61570782	61570783	rs174547	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-T	0.678	2E-175	(lysoPhosphatidylcholine acyl C20:4)	0.1652	[0.15-0.18] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61570782	61570783	rs174547	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-T	0.6775	3E-42	(Phosphatidylcholine acyl-alkyl C36:4)	0.0663	[0.057-0.076] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61570782	61570783	rs174547	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-T	0.6756	2E-40	(Phosphatidylcholine diacyl C34:4)	0.0884	[0.075-0.101] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61570782	61570783	rs174547	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174547-T	0.6702	6E-14	(Cis/trans-18:2, EA)	0.0032	[0.0024-0.004] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61570782	61570783	rs174547	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	11q12.2	FADS1	rs174547-T	0.62	6E-18		0.037	[0.025-0.049] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1054	chr11	61570782	61570783	rs174547	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	11q12.2	FTH1, C11orf9, FADS1, DAGLA, FADS2, FEN1, C11orf10, FADS3, RAB3IL1, BEST1	rs174547-T	0.674	2E-72		0.02	[0.018-0.022] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61570782	61570783	rs174547	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	8,631 European ancestry individuals	NA	11q12.2	FTH1, INCENP, FADS1, FADS2, SCGB2A1, SCGB1D1, SCGB2A2, RAB3IL1, AHNAK, C11orf9, DAGLA, FEN1, FADS3, SYT7, BEST1	rs174547-C	0.33	3E-971		1.69	[1.65-1.73] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61570782	61570783	rs174547	22960237	Han Y	2012-08-31	Bone	Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive strength index and appendicular lean mass in males.	Comprehensive strength and appendicular lean mass	825 Chinese ancestry female individuals, 802 Chinese ancestry male individuals	1,059 European ancestry male individuals, 2,227 European ancestry female individuals	11q12.2	FADS1, FADS2	rs174547-C	0.33	2E-7	(Males + Females)			Affymetrix [701525]	N
1054	chr11	61570782	61570783	rs174547	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174547-?	NR	8E-262	(LA/PUFA)	0.57	[0.53-0.61] unit increase	Illumina [~ 7700000] (imputed)	N
1054	chr11	61570782	61570783	rs174547	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	11q12.2	FADS1	rs174547-C	0.32	9E-116	(SM-3 + 152 other traits)	0.178	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1054	chr11	61570782	61570783	rs174547	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FADS1	rs174547-T	NR	4E-154	(DPA)	0.07	[NR] % increase	Affymetrix, Illumina [NR]	N
1054	chr11	61570782	61570783	rs174547	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FADS1	rs174547-T	NR	3E-64	(ALA)	0.02	[NR] % decrease	Affymetrix, Illumina [NR]	N
1054	chr11	61570782	61570783	rs174547	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	11q12.2	FADS1	rs174547-C	0.33	2E-9		6.2	[4.22-8.18] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61570782	61570783	rs174547	20037589	Illig T	2009-12-27	Nat Genet	A genome-wide perspective of genetic variation in human metabolism.	Metabolite levels	1,029 European ancestry individuals	1,202 European ancestry individuals	11q12.2	FADS1	rs174547-C	0.30	7E-179	(PC aa C36:3/PC aa C36:4)	36.3	[NR] % variance	Affymetrix [517480]	N
1054	chr11	61570782	61570783	rs174547	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-C	0.33	2E-14		0.06	[0.02-0.10] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1054	chr11	61570782	61570783	rs174547	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174547-C	0.33	2E-12		0.09	[0.05-0.13] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1054	chr11	61571347	61571348	rs174548	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174548-C	0.7049	5E-15	(Cis/trans-18:2, EA)	0.0035	[0.0027-0.0043] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61571347	61571348	rs174548	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	11q12.2	FADS1	rs174548-C	0.7	2E-361	(arachidonate (20:4n6)/dihomo-linolenate (20:3n3 or n6))	0.071	[0.067-0.075] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61571347	61571348	rs174548	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs174548-C	0.7	1E-84	(arachidonate (20:4n6))	0.049	[0.043-0.055] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61571347	61571348	rs174548	23303382	Hong KW	2013-01-10	J Hum Genet	Genome-wide association study of serum albumin:globulin ratio in Korean populations.	Hematology traits	4,637 East Asian ancestry individuals	4,205 East Asian ancestry individuals	11q12.2	FADS1	rs174548-G	0.319	4E-8	(ALB/GLB)	0.017	[0.011-0.023] unit increase	Affymetrix [290659]	N
1054	chr11	61571347	61571348	rs174548	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	11q12.2	FADS1	rs174548-G	0.17	5E-14		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1054	chr11	61571347	61571348	rs174548	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	11q12.2	FADS1	rs174548-G	0.17	1E-12		0.01	[0.007-0.015] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1054	chr11	61571347	61571348	rs174548	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	11q12.2	FADS1	rs174548-?	0.28	5E-8	(PC)			Affymetrix [187454]	N
1054	chr11	61571381	61571382	rs174549	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174549-A	0.2918	5E-15	(Cis/trans-18:2, EA)	0.0035	[0.0027-0.0043] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61571381	61571382	rs174549	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	11q12.2	FADS1, C11orf9, C11orf10, FEN1, FADS2	rs174549-?	0.29	2E-10	(GLA)	0.124	[NR] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1054	chr11	61571381	61571382	rs174549	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	11q12.2	FADS1	rs174549-?	0.29	4E-10	(DPA-n3)	0.122	[NR] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1054	chr11	61571381	61571382	rs174549	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	11q12.2	FADS1, FADS2, FADS3, FEN1	rs174549-?	0.59	1E-20		1.37	[1.28-1.47]	Affymetrix [662108]	N
1054	chr11	61571381	61571382	rs174549	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	11q12.2	FADS1	rs174549-A	0.31	1E-22		0.358	[0.27-0.45] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1054	chr11	61571381	61571382	rs174549	23281178	Hong MG	2013-03-01	Hum Mutat	A genome-wide assessment of variability in human serum metabolism.	Metabolite levels	214 European ancestry prostate cancer cases, 188 European ancestry controls	489 European ancestry prostate cancer cases	11q12.2	FADS1	rs174549-G	NR	2E-30	(Glycerolphosphocholine)			Affymetrix [333722]	N
1054	chr11	61571381	61571382	rs174549	22960237	Han Y	2012-08-31	Bone	Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive strength index and appendicular lean mass in males.	Comprehensive strength and appendicular lean mass	825 Chinese ancestry female individuals, 802 Chinese ancestry male individuals	1,059 European ancestry male individuals, 2,227 European ancestry female individuals	11q12.2	FADS1, FADS2	rs174549-A	0.30	8E-7	(Males)			Affymetrix [701525]	N
1054	chr11	61571477	61571478	rs174550	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174550-T	0.6772	4E-33	(Phosphatidylcholine acyl-alkyl C36:2)	0.058	[0.049-0.067] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61571477	61571478	rs174550	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174550-T	0.6687	6E-14	(Cis/trans-18:2, EA)	0.0032	[0.0024-0.004] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61571477	61571478	rs174550	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	11q12.2	FADS1, FADS2, C11orf10, C11orf9, FEN1, RAB3IL1	rs174550-?	0.33	6E-43	(LA)	0.258	[NR] unit increase	Affymetrix [~ 2500000] (imputed)	N
1054	chr11	61571477	61571478	rs174550	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	8,631 European ancestry individuals	NA	11q12.2	FTH1, INCENP, FADS1, FADS2, SCGB1D1, SCGB2A1, C11orf9, DAGLA, FEN1, RAB3IL, C11orf10, FADS3, SYT7, BEST1, SCGB1D2	rs174550-T	0.676	4E-274		1.47	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61571477	61571478	rs174550	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	11q12.2	C11orf9, FADS1, FADS2, DAGLA, FEN1, C11orf10, FADS3, RAB3IL1, BEST1	rs174550-T	0.674	4E-140		0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61571477	61571478	rs174550	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs174550-T	0.67	7E-24	(adrenate (22:4n6))	0.035	[0.029-0.041] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61571477	61571478	rs174550	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	11q12.2	FADS1	rs174550-?	NR	2E-9				Affymetrix, Illumina [~ 2400000] (imputed)	N
1054	chr11	61571477	61571478	rs174550	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FADS1	rs174550-T	NR	1E-57	(EPA)	0.08	[NR] % increase	Affymetrix, Illumina [NR]	N
1054	chr11	61571477	61571478	rs174550	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	11q12.2	FADS1	rs174550-T	0.64	5E-13	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61571477	61571478	rs174550	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	11q12.2	FADS1	rs174550-T	0.64	2E-15	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61573683	61573684	rs174551	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174551-T	0.63	2E-27		0.067	[0.055-0.079] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1054	chr11	61579462	61579463	rs174554	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174554-A	0.63	5E-24		0.062	[0.05-0.074] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1054	chr11	61579759	61579760	rs174555	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS1, FADS2, FADS3	rs174555-T	0.713	1E-35	(Phosphatidylcholine diacyl C36:3)	0.0553	[0.047-0.064] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61579759	61579760	rs174555	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174555-T	0.7057	6E-15	(Cis/trans-18:2, EA)	0.0034	[0.0026-0.0042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61579759	61579760	rs174555	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	8,631 European ancestry individuals	NA	11q12.2	FTH1, C11orf9, FADS1, DAGLA, FADS2, FEN1, C11orf10, FADS3, RAB3IL1, BEST1	rs174555-T	0.71	5E-168		0.39	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61580634	61580635	rs174556	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174556-T	0.294	3E-14	(Cis/trans-18:2, EA)	0.0033	[0.0025-0.0041] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61580634	61580635	rs174556	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs174556-T	0.3	2E-22	(eicosapentaenoate (EPA; 20:5n3))	0.036	[0.028-0.044] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61595563	61595564	rs968567	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS2, FADS1, FADS3	rs968567-T	0.1587	1E-18	(lysoPhosphatidylcholine acyl C20:3)	0.0675	[0.052-0.083] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61595563	61595564	rs968567	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs968567-T	0.18	3E-19	(1-eicosatrienoylglycerophosphocholine)	0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61595563	61595564	rs968567	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs968567-T	0.18	2E-21	(dihomo-linolenate (20:3n3 or n6))	0.033	[0.025-0.041] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61595563	61595564	rs968567	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11q12.2	FADS1, FADS2, FADS3	rs968567-C	0.83	2E-8	(EA)	1.12	[1.07-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1054	chr11	61597211	61597212	rs174570	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174570-T	0.1353	1E-7	(Cis/trans-18:2, EA)	0.0032	[0.002-0.0044] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61597211	61597212	rs174570	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	11q12.2	FADS2	rs174570-C	0.55	2E-7		0.04	[0.020-0.060] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
1054	chr11	61597211	61597212	rs174570	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	11q12.2	FADS2, FADS3	rs174570-G	0.83	4E-13		0.11	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
1054	chr11	61597211	61597212	rs174570	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	11q12.2	FADS2, FADS3	rs174570-G	0.83	4E-6		0.06	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
1054	chr11	61597211	61597212	rs174570	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	11q12.2	FADS2, FADS3	rs174570-G	0.83	2E-10		0.09	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
1054	chr11	61597971	61597972	rs1535	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q12.2	NR	rs1535-?	NR	3E-9	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1054	chr11	61597971	61597972	rs1535	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS2, FADS1, FADS3	rs1535-A	0.6784	8E-48	(Phosphatidylcholine acyl-alkyl C36:3)	0.0687	[0.059-0.078] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61597971	61597972	rs1535	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS2, FADS1, FADS3	rs1535-A	0.6776	8E-18	(Phosphatidylcholine diacyl C34:3)	0.0458	[0.035-0.056] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61597971	61597972	rs1535	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs1535-A	0.6659	5E-14	(Cis/trans-18:2, EA)	0.0032	[0.0024-0.004] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61597971	61597972	rs1535	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FADS2	rs1535-A	NR	3E-63	(ALA)	0.02	[NR] % decrease	Affymetrix, Illumina [NR]	N
1054	chr11	61597971	61597972	rs1535	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FADS2	rs1535-A	NR	3E-152	(DPA)	0.07	[NR] % increase	Affymetrix, Illumina [NR]	N
1054	chr11	61597971	61597972	rs1535	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	11q12.2	FADS2	rs1535-G	0.18	4E-7	(HDL)	0.03	[0.02-0.04] mmol/l decrease	Illumina [308011]	N
1054	chr11	61597971	61597972	rs1535	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	11q12.2	FEN, FADS1, FADS2	rs1535-G	0.32	7E-6	(HDL, sum)			Illumina [~ 2500000] (imputed)	N
1054	chr11	61600341	61600342	rs174574	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174574-A	0.3355	3E-14	(Cis/trans-18:2, EA)	0.0032	[0.0024-0.004] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61600341	61600342	rs174574	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FADS2	rs174574-A	NR	4E-55	(EPA)	0.08	[NR] % decrease	Affymetrix, Illumina [NR]	N
1054	chr11	61601907	61601908	rs2845573	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs2845573-A	0.9173	1E-8	(Cis/trans-18:2, EA)	0.0044	[0.0028-0.006] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61602002	61602003	rs174575	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174575-C	0.7453	4E-6	(Cis/trans-18:2, EA)	0.0021	[0.0011-0.0031] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61603236	61603237	rs2727270	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs2727270-T	0.1209	7E-9	(Cis/trans-18:2, EA)	0.0038	[0.0026-0.005] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61603236	61603237	rs2727270	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	8,631 European ancestry individuals	NA	11q12.2	FTH1, INCENP, FADS1, FADS2, SCGB1D1, SCGB2A1, C11orf9, DAGLA, FEN1, RAB3IL, C11orf10, FADS3, SYT7, BEST1, SCGB1D2	rs2727270-T	0.44	3E-21	(Conditioned on rs174547)	0.69	[0.55-0.83] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61603357	61603358	rs2727271	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs2727271-A	0.8789	7E-9	(Cis/trans-18:2, EA)	0.0038	[0.0026-0.005] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1054	chr11	61603357	61603358	rs2727271	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs2727271-A	0.89	3E-11	(X-12990--docosapentaenoic acid (n6-DPA))	0.055	[0.039-0.071] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr11	61603509	61603510	rs174576	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS2, FADS1, FADS3	rs174576-A	0.3206	1E-17	(Phosphatidylcholine diacyl C34:2)	0.0305	[0.023-0.038] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1054	chr11	61603509	61603510	rs174576	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174576-A	0.3422	3E-14	(Cis/trans-18:2, EA)	0.0032	[0.0024-0.004] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61604781	61604782	rs2524299	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs2524299-A	0.8756	7E-9	(Cis/trans-18:2, EA)	0.0037	[0.0025-0.0049] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61604813	61604814	rs174577	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174577-A	0.3431	4E-14	(Cis/trans-18:2, EA)	0.0032	[0.0024-0.004] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61604813	61604814	rs174577	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	11q12.2	FADS2	rs174577-A	0.33	2E-17		0.062	[0.048-0.076] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
1055	chr11	61604813	61604814	rs174577	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	P wave duration	16,468 European ancestry individuals	NA	11q12.2	C11orf9, FADS2	rs174577-A	0.334	3E-8		0.735	[0.48-0.99] unit decrease	Illumina [2300000] (imputed)	N
1055	chr11	61605214	61605215	rs2072114	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs2072114-A	0.874	3E-9	(Cis/trans-18:2, EA)	0.0037	[0.0025-0.0049] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61605498	61605499	rs174578	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS2, FADS1, FADS3	rs174578-A	0.3281	2E-43	(Phosphatidylcholine diacyl C40:5)	0.075	[0.064-0.086] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1055	chr11	61605498	61605499	rs174578	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	11q12.2	FADS2, FADS1, FADS3	rs174578-A	0.3267	3E-18	(Phosphatidylcholine diacyl C32:0)	0.0362	[0.028-0.044] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1055	chr11	61605498	61605499	rs174578	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174578-A	0.3447	5E-14	(Cis/trans-18:2, EA)	0.0032	[0.0024-0.004] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61605498	61605499	rs174578	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs174578-A	0.34	6E-42	(1-arachidonoylglycerophosphoethanolamine)	0.035	[0.029-0.041] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1055	chr11	61605498	61605499	rs174578	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs174578-A	0.34	3E-24	(1-arachidonoylglycerophosphoinositol)	0.027	[0.021-0.033] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1055	chr11	61609749	61609750	rs174583	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174583-T	0.3478	2E-13	(Cis/trans-18:2, EA)	0.0031	[0.0023-0.0039] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61609749	61609750	rs174583	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	11q12.2	FADS2	rs174583-T	0.344	8E-11		0.57	[0.39-0.75] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61609749	61609750	rs174583	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	11q12.2	FADS1, FADS2, FADS3	rs174583-T	0.34	3E-6	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
1055	chr11	61616011	61616012	rs2851682	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs2851682-A	0.9123	1E-7	(Cis/trans-18:2, EA)	0.0039	[0.0025-0.0053] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61623139	61623140	rs174601	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174601-T	0.3731	3E-13	(Cis/trans-18:2, EA)	0.0034	[0.0024-0.0044] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61623139	61623140	rs174601	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	11q12.2	C11orf9, C11orf10, FEN1, FADS1, FADS2, RAB3IL1, DAGLA, BEST1	rs174601-?	0.35	3E-305	(DGLA)	0.591	[NR] unit increase	Affymetrix [~ 2500000] (imputed)	N
1055	chr11	61623139	61623140	rs174601	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q12.2	FADS1	rs174601-T	0.34	8E-16	(stearidonate (18:4n3))	0.034	[0.026-0.042] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1055	chr11	61623139	61623140	rs174601	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	11q12.2	FADS1, FADS2, C11orf10	rs174601-T	0.35	3E-9		1.7	[0.80-2.60] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1055	chr11	61623792	61623793	rs2526678	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs2526678-A	0.0833	8E-8	(Cis/trans-18:2, EA)	0.0043	[0.0027-0.0059] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61639487	61639488	rs422249	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs422249-T	0.3218	3E-6	(Cis/trans-18:2, EA)	0.0021	[0.0013-0.0029] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61639572	61639573	rs174448	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174448-A	0.6472	2E-6	(Cis/trans-18:2, EA)	0.002	[0.0012-0.0028] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61639572	61639573	rs174448	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FADS3	rs174448-A	NR	7E-28	(EPA)	0.05	[NR] % increase	Affymetrix, Illumina [NR]	N
1055	chr11	61639572	61639573	rs174448	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FADS3	rs174448-A	NR	4E-25	(ALA)	0.01	[NR] % decrease	Affymetrix, Illumina [NR]	N
1055	chr11	61639572	61639573	rs174448	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	FADS3	rs174448-A	NR	3E-60	(DPA)	0.05	[NR] % increase	Affymetrix, Illumina [NR]	N
1055	chr11	61640378	61640379	rs174449	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q12.2	NR	rs174449-A	0.6452	8E-7	(Cis/trans-18:2, EA)	0.0021	[0.0013-0.0029] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1055	chr11	61655304	61655305	rs1000778	19798445	Hicks AA	2009-10-02	PLoS Genet	Genetic determinants of circulating sphingolipid concentrations in European populations.	Sphingolipid levels	4,110 European ancestry individuals	NA	11q12.2	FADS3	rs1000778-A	0.32	7E-13	(SM 16:1)	0.62	[0.45-0.78] unit decrease	Illumina [318237]	N
1055	chr11	61663690	61663691	rs174468	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	RAB3IL1	rs174468-A	NR	3E-35	(Docosapentaenoic acid)	0.04	[NR] % increase	Affymetrix, Illumina [NR]	N
1055	chr11	61663690	61663691	rs174468	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	RAB3IL1	rs174468-A	NR	2E-17	(EPA)	0.05	[NR] % increase	Affymetrix, Illumina [NR]	N
1055	chr11	61663690	61663691	rs174468	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.2	RAB3IL1	rs174468-A	NR	1E-12	(ALA)	0.01	[NR] % decrease	Affymetrix, Illumina [NR]	N
1055	chr11	61678753	61678754	rs174479	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	11q12.3	FADS1, FADS2, FADS3	rs174479-?	NR	2E-14	(levels)	0.0	[0.80-1.50] % increase	Illumina [NR] (imputed)	N
1055	chr11	61711474	61711475	rs2521572	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.3	BEST1	rs2521572-T	NR	2E-9	(DPA)	0.05	[NR] % decrease	Affymetrix, Illumina [NR]	N
1055	chr11	61712130	61712131	rs2727261	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Estradiol levels	1,583 European ancestry female individuals	NA	11q12.3	FTH1, BEST1	rs2727261-T	0.09	3E-6		0.159	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
1055	chr11	61722644	61722645	rs1109748	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.3	BEST1	rs1109748-A	NR	5E-9	(EPA)	0.05	[NR] % decrease	Affymetrix, Illumina [NR]	N
1056	chr11	61746290	61746291	rs10792320	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.3	FTH1	rs10792320-A	NR	8E-8	(DPA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
1056	chr11	61795585	61795586	rs11230874	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.3	FTH1	rs11230874-T	NR	2E-8	(EPA)	0.07	[NR] % increase	Affymetrix, Illumina [NR]	N
1056	chr11	61815802	61815803	rs4963452	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	11q12.3	INCENP	rs4963452-T	NR	6E-7	(DPA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
1057	chr11	61963929	61963930	rs189478926	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11q12.3	NR	rs189478926-?	NR	5E-9	(Japanese)	0.8474	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1058	chr11	62061348	62061349	rs11231017	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	11q12.3	SCGB1D4, SCGB2A2	rs11231017-A	0.3111	7E-7	(Xin)	0.7189	unit decrease	Illumina [up to 528294]	N
1058	chr11	62103419	62103420	rs2463822	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	11q12.3	ASRGL1	rs2463822-T	0.12	1E-10	(CC16)			Illumina [588352]	N
1059	chr11	62141690	62141691	rs184485201	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11q12.3	NR	rs184485201-?	NR	2E-7	(Japanese)	0.9188	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1059	chr11	62186541	62186542	rs3741240	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	11q12.3	SCGB1A1	rs3741240-A	0.36	1E-26	(CC16)			Illumina [588352]	N
1059	chr11	62197426	62197427	rs2077224	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	11q12.3	AHNAK	rs2077224-A	0.38	2E-14	(CC16)			Illumina [588352]	N
1059	chr11	62199816	62199817	rs17157266	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	11q12.3	AHNAK	rs17157266-C	0.18	1E-9	(CC16)			Illumina [588352]	N
1061	chr11	62461228	62461229	rs575134	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	11q12.3	BSCL2	rs575134-?	NR	6E-6	(Hispanic)			Illumina [936149]	N
1063	chr11	62771387	62771388	rs11231299	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	11q12.3	SLC22A8	rs11231299-A	0.20	5E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1064	chr11	62912853	62912854	rs4366490	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	11q12.3	SLC22A24	rs4366490-?		1E-6	(EA, Maternal)	1.7	[1.36-2.12]	Illumina [2421290] (imputed)	N
1065	chr11	62915345	62915346	rs112295236	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	11q12.3	SLC22A9	rs112295236-G	0.062	8E-12	(Progesterone)	0.255	[NR] unit increase	Illumina [7879351] (imputed)	N
1066	chr11	63173683	63173684	rs7101446	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	11q12.3	SLC22A9	rs7101446-T	NR	3E-6	(Economic policy)	0.145	[0.084-0.206] unit decrease	Illumina [628922]	N
1070	chr11	63592620	63592621	rs10897449	22554406	Kang SJ	2012-05-03	Genes Brain Behav	Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6.	Electroencephalographic traits in alcoholism	1,560 European ancestry individuals from 117 families	NA	11q13.1	C11orf84	rs10897449-T	0.453	7E-6		0.099	[NR] unit decrease	Illumina [634583]	N
1070	chr11	63648572	63648573	rs11231629	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q13.1	NR	rs11231629-C	NR	1E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1070	chr11	63666943	63666944	rs12099085	21130132	Mick E	2010-12-01	Prog Neuropsychopharmacol Biol Psychiatry	Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.	Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)	140 child cases	NA	11q13.1	MARK2	rs12099085-A	0.007	5E-6				Affymetrix [316934]	N
1072	chr11	63862611	63862612	rs11231693	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	11q13.1	MACROD1, VEGFB	rs11231693-A	0.0868	8E-7		0.034	[0.02-0.048] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1072	chr11	63862611	63862612	rs11231693	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	11q13.1	MACROD1, VEGFB	rs11231693-A	0.0855	6E-10	(women)	0.0586	[0.04-0.077] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1072	chr11	63862611	63862612	rs11231693	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	11q13.1	MACROD1, VEGFB	rs11231693-A	0.0624	4E-8	(EA)	0.0411	[0.026-0.056] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1072	chr11	63862611	63862612	rs11231693	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	11q13.1	MACROD1, VEGFB	rs11231693-A	0.0609	3E-11	(EA, women)	0.0684	[0.048-0.089] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1072	chr11	63869061	63869062	rs2845885	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q13.1	MACROD1	rs2845885-T	0.907	6E-6		0.028	[0.016-0.039] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1073	chr11	63963946	63963947	rs11607165	21784300	Mick E	2011-07-13	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of the child behavior checklist dysregulation profile.	Attention deficit hyperactivity disorder	341 ADHD case offspring from 339 trios	NA	11q13.1	STIP1	rs11607165-?	NR	4E-6				Illumina [835136]	N
1073	chr11	63979642	63979643	rs12575642	21784300	Mick E	2011-07-13	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of the child behavior checklist dysregulation profile.	Attention deficit hyperactivity disorder	341 ADHD case offspring from 339 trios	NA	11q13.1	FERMT3	rs12575642-?	NR	1E-6				Illumina [835136]	N
1073	chr11	63991800	63991801	rs1059440	21784300	Mick E	2011-07-13	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of the child behavior checklist dysregulation profile.	Attention deficit hyperactivity disorder	341 ADHD case offspring from 339 trios	NA	11q13.1	TRPT1	rs1059440-?	NR	4E-6				Illumina [835136]	N
1073	chr11	64048911	64048912	rs477895	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	11q13.1	BAD	rs477895-T	0.453	5E-8	(Platelet Count)	4.19	[2.68-5.7] 10^9 L decrease	Affymetrix, Illumina [~ 2200000] (imputed)	N
1074	chr11	64097232	64097233	rs694739	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	11q13.1	ESRRA, PRDX5	rs694739-A	0.626	6E-10		1.1	[1.05-1.16]	Affymetrix, Illumina [953241] (imputed)	N
1074	chr11	64097232	64097233	rs694739	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	11q13.1	PRDX5	rs694739-A	0.63	4E-7		1.33	1.19-1.48]	Illumina [463301]	N
1074	chr11	64107476	64107477	rs479777	22837380	Fischer A	2012-07-26	Am J Respir Crit Care Med	A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.	Sarcoidosis	564 European ancestry cases, 1,575 European ancestry controls	3,080 European ancestry cases, 3,659 European ancestry controls	11q13.1	CCDC88B, KCNK4, PRDX5, GPR137, BAD	rs479777-?	0.64	3E-18		1.18	[1.18-1.43]	Affymetrix [1294967] (imputed)	N
1074	chr11	64107734	64107735	rs663743	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	11q13.1	CCDC88B	rs663743-A	0.156	9E-14		1.24	[NR]	Illumina [4577171] (imputed)	N
1074	chr11	64129721	64129722	rs538147	22019778	Zhang F	2011-10-23	Nat Genet	Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.	Leprosy	706 Han Chinese ancestry cases, 5,581 Han Chinese ancestry controls	3,301 Han Chinese ancestry cases, 5,299 Han Chinese ancestry controls	11q13.1	RPS6KA4	rs538147-A	0.23	7E-6		1.17	[1.09-1.25]	NR [1701673] (imputed)	N
1074	chr11	64129721	64129722	rs538147	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	11q13.1	RPS6KA4	rs538147-G	0.61	2E-10		1.23	[1.15-1.31]	Illumina [507467]	N
1074	chr11	64150369	64150370	rs559928	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q13.1	NR	rs559928-G	0.81	6E-8	(EA)	1.0923722		Affymetrix, Illumina [~ 9000000] (imputed)	N
1074	chr11	64150369	64150370	rs559928	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q13.1	NR	rs559928-G	0.81	3E-13	(EA)	1.098986		Affymetrix, Illumina [~ 9000000] (imputed)	N
1074	chr11	64150369	64150370	rs559928	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q13.1	NR	rs559928-A	0.81	4E-10	(EA)	1.1042032		Affymetrix, Illumina [~ 9000000] (imputed)	N
1074	chr11	64150369	64150370	rs559928	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	11q13.1	RPS6KA4, CCDC88B, TRPT1, FLRT1	rs559928-C	0.821	4E-11		1.101	[1.061-1.142]	Affymetrix, Illumina [1230000] (imputed)	N
1075	chr11	64313290	64313291	rs7124676	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q13.1	SLC22A11	rs7124676-A	0.232	3E-6	(Urinary free dopamine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
1075	chr11	64331461	64331462	rs17300741	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	11q13.1	SLC22A11	rs17300741-A	0.51	7E-14		0.06	[0.046-0.078] mg/dl increase	Affymetrix, Illumina [2493963] (imputed)	N
1075	chr11	64334113	64334114	rs2078267	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	11q13.1	SLC22A11	rs2078267-C	0.49	7E-7	(men)	0.072	[0.045-0.099] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1075	chr11	64334113	64334114	rs2078267	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	11q13.1	SLC22A11	rs2078267-C	0.49	1E-10		0.071	[0.049-0.093] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1075	chr11	64334113	64334114	rs2078267	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	11q13.1	SLC22A11	rs2078267-C	0.49	7E-8		0.064	[0.040-0.088] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1075	chr11	64334113	64334114	rs2078267	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	11q13.1	SLC22A11	rs2078267-C	0.49	6E-8	(women)	0.078	[0.051-0.105] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1075	chr11	64334113	64334114	rs2078267	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	11q13.1	SLC22A11	rs2078267-T	0.51	9E-38		0.073	[0.061-0.085] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1075	chr11	64334113	64334114	rs2078267	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	11q13.1	SLC22A11	rs2078267-C	0.46	2E-26	(Urate)	6.8	[5.55-8.05] umol/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1075	chr11	64334113	64334114	rs2078267	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	11q13.1	SLC22A11	rs2078267-C	0.46	1E-6	(Gout)	1.26	[1.14-1.38]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1076	chr11	64357071	64357072	rs505802	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	11q13.1	SLC22A12, NRXN2	rs505802-C	0.32	1E-9	(men)	0.095	[0.064-0.126] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1076	chr11	64357071	64357072	rs505802	19503597	Kolz M	2009-06-05	PLoS Genet	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Uric acid levels	12,328 European ancestry males, 15,813 European ancestry females	NA	11q13.1	SLC22A12	rs505802-T	0.70	2E-9		0.06	[0.038-0.074] mg/dl decrease	Affymetrix, Illumina [2493963] (imputed)	N
1076	chr11	64358264	64358265	rs524023	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	11q13.1	SLC22A12, NRXN2	rs524023-C	0.7	2E-6		0.093	[0.054-0.132] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1076	chr11	64359220	64359221	rs12800450	21768215	Tin A	2011-07-18	Hum Mol Genet	Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.	Urate levels	8,651 African American individuals	1,996 African American individuals	11q13.1	SLC22A12	rs12800450-T	0.01	3E-16	(AA)	1.19	[NR] mg/dl decrease	Affymetrix [NR] (imputed)	N
1076	chr11	64360704	64360705	rs10897518	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	11q13.1	SLC22A12, NRXN2	rs10897518-C	0.32	9E-14		0.089	[0.065-0.113] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1076	chr11	64360704	64360705	rs10897518	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	11q13.1	SLC22A12, NRXN2	rs10897518-C	0.32	1E-6		0.06	[0.036-0.084] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1076	chr11	64440919	64440920	rs506338	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Urate levels	8,868 Japanese ancestry individuals	NA	11q13.1	SLC22A12	rs506338-C	0.17	2E-31		0.229	[0.19-0.27] unit decrease	Illumina [561583]	N
1076	chr11	64464084	64464085	rs504915	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (urea)	21,417 East Asian ancestry individuals	11,657 East Asian ancestry individuals	11q13.1	SLC22A12	rs504915-T	0.82	3E-63		0.2251	[0.20-0.25] mg/dl increase	Affymetrix, Illumina [2278301] (imputed)	N
1076	chr11	64478062	64478063	rs478607	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	11q13.1	NRXN2, SLC22A12	rs478607-A	0.84	4E-11		0.047	[0.033-0.061] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1077	chr11	64525215	64525216	rs589691	21768215	Tin A	2011-07-18	Hum Mol Genet	Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.	Urate levels	8,651 African American individuals	1,996 African American individuals	11q13.1	intergenic	rs589691-T	0.33	9E-8	(AA)	0.15	[NR] mg/dl decrease	Affymetrix [NR] (imputed)	N
1077	chr11	64546390	64546391	rs606458	21768215	Tin A	2011-07-18	Hum Mol Genet	Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.	Urate levels	8,651 African American individuals	1,996 African American individuals	11q13.1	PYGM, RASGRP2, CDC42BPG, NRXN2, MAP4K2, MEN1, SF1	rs606458-T	0.35	6E-11	(AA)	0.18	[NR] mg/dl decrease	Affymetrix [NR] (imputed)	N
1077	chr11	64557053	64557054	rs493573	21768215	Tin A	2011-07-18	Hum Mol Genet	Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.	Urate levels	8,651 African American individuals	1,996 African American individuals	11q13.1	MAP4K2	rs493573-A	0.03	2E-17	(AA)	0.8	[NR] mg/dl decrease	Affymetrix [NR] (imputed)	N
1077	chr11	64584230	64584231	rs470763	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (fairness)	9,617 European ancestry individuals	NA	11q13.1	intergenic	rs470763-G	NR	5E-6		0.113	[0.064-0.162] unit increase	Illumina [628922]	N
1079	chr11	64771946	64771947	rs582580	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q13.1	NR	rs582580-G	NR	3E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1082	chr11	65143891	65143892	rs34400381	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	11q13.1	SLC25A45	rs34400381-A	0.043	2E-10		0.36	[0.25-0.47] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1082	chr11	65143891	65143892	rs34400381	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	11q13.1	NR	rs34400381-A	0.043	2E-6		0.269	[0.16-0.38] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1082	chr11	65249144	65249145	rs17146964	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Vertical cup-disc ratio	7,360 European ancestry individuals	4,455 European ancestry individuals	11q13.1	SCYL1	rs17146964-G	0.20	4E-9		0.01	[0.01-0.02] mm2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1082	chr11	65260645	65260646	rs600231	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	11q13.1	SCYL1	rs600231-A	0.7	4E-6	(FNBMD)	0.02	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1083	chr11	65336818	65336819	rs3782089	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11q13.1	SSSCA1	rs3782089-T	0.06	4E-13		0.058	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1083	chr11	65337250	65337251	rs1346	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	11q13.1	SSSCA1	rs1346-T	0.19	7E-11	(EA)	0.023	[0.015-0.031] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1083	chr11	65337250	65337251	rs1346	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	11q13.1	SSSCA1	rs1346-T	0.19	2E-9		0.019	[0.013-0.025] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1083	chr11	65337250	65337251	rs1346	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	11q13.1	SSSCA1	rs1346-T	NR	5E-13		0.012	[0.0081-0.0159] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1083	chr11	65349755	65349756	rs6591182	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	11q13.1	LTBP3, EHBP1L1	rs6591182-A	0.47	9E-7		0.54	[NR] unit increase	Illumina [324623]	N
1083	chr11	65353905	65353906	rs4601790	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure (age interaction)	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	11q13.1	EHBP1L1	rs4601790-G	0.27	6E-7	(EA, DBP)	0.0197	[0.012-0.028] mmHg decrease per 1 year increase in age	Affymetrix, Illumina [~ 2500000] (imputed)	N
1083	chr11	65353905	65353906	rs4601790	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure (age interaction)	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	11q13.1	EHBP1L1	rs4601790-G	0.27	3E-7	(EA, MAP)	0.022	[0.014-0.03] mmHg decrease per 1 year increase in age	Affymetrix, Illumina [~ 2500000] (imputed)	N
1083	chr11	65368322	65368323	rs10791821	25646370	Matsuo H	2015-02-02	Ann Rheum Dis	Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.	Gout	945 Japanese ancestry cases, 1,213 Japanese ancestry controls	1,048 Japanese ancestry cases, 1,334 Japanese ancestry controls	11q13.1	MAP3K11	rs10791821-G	0.92	1E-7		1.57	[1.33-1.85]	Illumina [570442]	N
1083	chr11	65383754	65383755	rs58950470	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q13.1	NR	rs58950470-T	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1083	chr11	65391316	65391317	rs12801636	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11q13.1	KAT5	rs12801636-A	0.23	3E-8		0.024	[NR] unit increase	NR [NR] (imputed)	N
1084	chr11	65427567	65427568	rs732072	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q13.1	NR	rs732072-?	NR	4E-6	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1084	chr11	65494259	65494260	rs478304	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	11q13.1	AX746604, AX747517, BANF1, BC010924, C11orf68, CATSPER1, CCDC85B, CDC42EP2, CST6, CTSW, DPF2, DQ587981, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FAM89B, FIBP, FOSL1, FRMD8, GAL3ST3, KAT5, KCNK7, MALAT1, MAP3K11, MascRNA_menRNA, MIR4489, MIR4690, MIR548AR, NEAT1, PACS1, PCNXL3, POLA2, RELA, RNASEH2C, SART1, SCYL1, SF3B2, SIPA1, SLC22A20, SLC25A45, SSSCA1, SSSCA1-AS1, TIGD3, TSGA10IP, U7, LTBP3, OVOL1, SNX32, CFL1, MUS81, AP5B1	rs478304-T	0.5518	3E-11		1.2	[1.11-1.29]	Illumina [7300000] (imputed)	N
1084	chr11	65506821	65506822	rs4014195	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	11q13.1	RNASEH2C, KAT5, OVOL1	rs4014195-G	0.35	1E-7	(eGFRcrea)	0.01	[0.006-0.010] ml/min/1.73 m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1084	chr11	65513106	65513107	rs593982	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	11q13.1	OVOL1	rs593982-C	0.53	6E-7		1.23	[NR]	Illumina [606164]	N
1085	chr11	65551956	65551957	rs479844	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	11q13.1	OVOL1	rs479844-G	0.56	1E-13		1.14	[1.10-1.18]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1085	chr11	65560619	65560620	rs642803	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	11q13.1	OVOL1, LTBP3	rs642803-T	0.46	3E-13		0.036	[0.026-0.045] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1085	chr11	65578671	65578672	rs11227306	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	11q13.1	OVOL1, CFL1	rs11227306-A	0.38	2E-7	(IGF2-DMR)			Illumina [515966]	N
1085	chr11	65583065	65583066	rs3903072	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	11q13.1	DKFZp761E198, OVOL1, SNX32, CFL1, MUS81	rs3903072-G	0.53	9E-12		1.05	[1.04-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1085	chr11	65653241	65653242	rs568617	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q13.1	NR	rs568617-A	0.1883	2E-8	(EA)	1.0888312	[1.06-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1085	chr11	65656563	65656564	rs2231884	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	11q13.1	RELA, FOSL1, SNX32, CTSW	rs2231884-T	0.157	3E-10		1.083	[1.044-1.122]	Affymetrix, Illumina [1230000] (imputed)	N
1087	chr11	65886661	65886662	rs524281	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	11q13.2	PACS1	rs524281-?	NR	4E-6	(Alpha peak frequency, occipital	0.073	[0.042-0.104] unit increase	Illumina [527829]	N
1087	chr11	65895165	65895166	rs564343	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	11q13.2	PACS1	rs564343-A	0.41	2E-9		1.22	[1.15-1.31]	Affymetrix [~ 2000000] (imputed)	N
1088	chr11	66050711	66050712	rs4073582	25646370	Matsuo H	2015-02-02	Ann Rheum Dis	Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.	Gout	945 Japanese ancestry cases, 1,213 Japanese ancestry controls	1,048 Japanese ancestry cases, 1,334 Japanese ancestry controls	11q13.2	CNIH-2	rs4073582-G	0.91	6E-9		1.66	[1.40-1.96]	Illumina [570442]	N
1088	chr11	66054822	66054823	rs510398	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	11q13.2	YIF1A	rs510398-?		4E-6	(AIRg)	12.63	[6.83-18.43] unit increase	Illumina [693128]	N
1091	chr11	66335307	66335308	rs2242663	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	11q13.2	NR	rs2242663-T	0.25	1E-6		1.2	[1.11-1.29]	Affymetrix, Illumina [2366197] (imputed)	N
1091	chr11	66339638	66339639	rs113835537	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	11q13.2	CTSF	rs113835537-A	NR	9E-7	(Pi10, All)	0.012	[0.0075-0.0165] unit increase	Illumina [7600000] (imputed)	N
1092	chr11	66551001	66551002	rs10896135	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	11q13.2	RCE1, RBM4B, RBM4, RBM14, RAB1B, PELI3, PC, NPAS4, MRPL11, LRFN4, KLC2, DPP3, CTSF, CNIH2, CD248, CCS, CCDC87, C11orf86, GAL3ST3, C11orf80, BRMS1, BBS1, B3GNT1, ACTN3, PACS1, SF3B2, ZDHHC24, YIF1A, TMEM151A, SYT12, SPTBN2, SLC29A2, RIN1	rs10896135-G	NR	2E-7		1.12	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
1093	chr11	66662730	66662731	rs7122539	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 susceptibility	496 African ancestry cases and 302 African ancestry exposed controls from serodiscordant couples	NA	11q13.2	PC	rs7122539-?	NR	8E-6				Illumina [990115]	N
1094	chr11	66826159	66826160	rs7112925	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	11q13.2	RHOD	rs7112925-T	0.356	6E-15		0.024	[0.018-0.03] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1094	chr11	66826159	66826160	rs7112925	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11q13.2	RHOD	rs7112925-T	0.35	9E-10		0.023	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1099	chr11	67421340	67421341	rs12288023	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	11q13.2	ACY3	rs12288023-C	0.09	9E-16	(N-acetylphenylalanine)	0.27	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1101	chr11	67715027	67715028	rs308309	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QRS duration	455 African American individuals	NA	11q13.2	intergenic	rs308309-C		5E-6		4.39	[NR] ms increase	Illumina [> 930000]	N
1103	chr11	67931760	67931761	rs4930561	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q13.2	SUV420H1	rs4930561-G	0.511382618397086	9E-10	(IGP41)	0.185	[0.13-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
1103	chr11	67931760	67931761	rs4930561	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q13.2	SUV420H1	rs4930561-G	0.510670339237057	1E-8	(IGP1)	0.1714	[0.11-0.23] unit increase	Illumina [~ 2500000] (imputed)	N
1105	chr11	68192345	68192346	rs599083	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	11q13.2	LRP5	rs599083-G	0.31	5E-8		0.07	[0.05-0.09] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
1105	chr11	68195103	68195104	rs525592	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	11q13.2	LRP5	rs525592-?	NR	3E-11	(spine)			Affymetrix, Illumina [5842825] (imputed)	N
1105	chr11	68201294	68201295	rs3736228	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	11q13.2	LRP5	rs3736228-T	0.16	2E-26	(LSBMD)	0.08	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1105	chr11	68201294	68201295	rs3736228	18455228	Richards JB	2008-04-29	Lancet	Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.	Bone mineral density	2,094 European ancestry female individuals	6,463 European ancestry individuals	11q13.2	LRP5	rs3736228-T	0.14	6E-12		0.13	[NR] SD decrease	Illumina [314075]	N
1105	chr11	68263369	68263370	rs12272917	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	11q13.2	PPP6R3, LRP5	rs12272917-T	NR	2E-10	(EA)	0.1213	[0.084-0.159] unit increase	Illumina [~ 2500000] (imputed)	N
1105	chr11	68263369	68263370	rs12272917	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	11q13.2	PPP6R3, LRP5	rs12272917-T	0.75	1E-10		0.109	[0.076-0.142] unit increase	Illumina [~ 2500000] (imputed)	N
1108	chr11	68556781	68556782	rs2924679	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q13.3	CPT1A	rs2924679-A	0.094	4E-6	(Fat oxidation )	0.03	[NR] %NPEE increase	Illumina [899892]	N
1110	chr11	68840159	68840160	rs3750965	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	11q13.3	NR	rs3750965-?	NR	3E-7	(hair color)			Illumina [535076]	N
1110	chr11	68846398	68846399	rs35264875	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Blond vs. brown hair color	5,130 European ancestry individuals	3,330 European ancestry individuals	11q13.3	TPCN2	rs35264875-T	0.22	4E-30		2.49	[1.96-3.15]	Illumina [316515]	N
1110	chr11	68872842	68872843	rs72930659	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Light vs. dark hair color	3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals	NA	11q13.3	TPCN2	rs72930659-?	0.109	3E-13		1.6087	[1.48-1.74]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1110	chr11	68872842	68872843	rs72930659	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Brown vs. non-brown hair color	3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals	NA	11q13.3	TPCN2	rs72930659-?	0.109	1E-11		1.5544	[1.43-1.68]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1110	chr11	68872842	68872843	rs72930659	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Blond vs non-blond hair color	2,888 European ancestry blond hair individuals, 4,203 European ancestry non-blond hair individuals	NA	11q13.3	TPCN2	rs72930659-?	0.891	3E-14		1.65	[1.52-1.78]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1110	chr11	68919648	68919649	rs2290419	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	11q13.3	TPCN2, CCND1	rs2290419-G	0.044	3E-7		0.18	[NR] unit decrease	Affymetrix, Illumina [at least 1569314] (imputed)	N
1111	chr11	68978579	68978580	rs11228565	19767754	Gudmundsson J	2009-09-20	Nat Genet	Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.	Prostate cancer	Up to 1,968 European ancestry cases, 35,382 European ancestry controls	Up to 11,806 European ancestry cases, 12,387 European ancestry controls	11q13.3	intergenic	rs11228565-A	0.20	7E-12		1.23	[1.16-1.31]	Illumina [310520]	N
1111	chr11	68985582	68985583	rs7929962	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	11q13.3	LOC338694, MYEOV	rs7929962-T	0.51	2E-13		1.15	[1.11-1.19]	Illumina [1531807] (imputed)	N
1111	chr11	68994496	68994497	rs7931342	24740154	Lange EM	2014-04-16	PLoS One	Genome-wide association scan for variants associated with early-onset prostate cancer.	Prostate cancer (early onset)	931 European ancestry cases, 4,120 European ancestry controls	2,571 European ancestry cases, 921 European ancestry controls	11q13.3	NR	rs7931342-G	NR	1E-6		1.3	[NR]	Illumina [2639562] (imputed)	N
1111	chr11	68994496	68994497	rs7931342	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	11q13.3	intergenic	rs7931342-G	0.51	2E-12		1.19	[1.11-1.27]	Illumina [541129]	N
1111	chr11	68994666	68994667	rs10896449	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	11q13.3	NR	rs10896449-G	0.52	8E-18	(European)	1.21	[1.16-1.26]	Affymetrix [up to 19977088] (imputed)	N
1111	chr11	68994666	68994667	rs10896449	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	11q13.3	NR	rs10896449-G	0.52	5E-19		1.2	[1.15-1.24]	Affymetrix [up to 19977088] (imputed)	N
1111	chr11	68994666	68994667	rs10896449	18264096	Thomas G	2008-02-10	Nat Genet	Multiple loci identified in a genome-wide association study of prostate cancer.	Prostate cancer	1,172 European ancestry cases, 1,157 European ancestry controls	3,941 European ancestry cases, 3,964 European ancestry controls	11q13.3	intergenic	rs10896449-G	0.52	2E-9		1.1	[0.98-1.23]	Illumina [527869]	N
1111	chr11	68995957	68995958	rs7130881	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	11q13.3	intergenic	rs7130881-G	NR	9E-9		1.31	[1.20-1.44]	Illumina [571243]	N
1111	chr11	68995957	68995958	rs7130881	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	11q13.3	NR	rs7130881-?	NR	8E-13				Illumina [541129]	N
1111	chr11	69009113	69009114	rs11228583	24740154	Lange EM	2014-04-16	PLoS One	Genome-wide association scan for variants associated with early-onset prostate cancer.	Prostate cancer (early onset)	931 European ancestry cases, 4,120 European ancestry controls	2,571 European ancestry cases, 921 European ancestry controls	11q13.3	MYEOV	rs11228583-T	0.52	2E-7		1.33	[1.22-1.44]	Illumina [2639562] (imputed)	N
1111	chr11	69011692	69011693	rs376592364	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	11q13.3	NR	rs376592364-T	0.52	6E-20		1.2	[1.16-1.25]	Affymetrix [up to 19977088] (imputed)	N
1111	chr11	69037822	69037823	rs4638315	25758998	Rubicz R	2015-03-11	Eur J Hum Genet	Genome-wide genetic investigation of serological measures of common infections.	Antibody level in response to infection	1,932 Mexican-American individuals	NA	11q13.3	MYEOV	rs4638315-A	0.29	6E-7	(All herpes viruses)	0.22	[NR] unit increase	Illumina [944565]	N
1112	chr11	69143283	69143284	rs7102705	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	11q13.3	IFITM9P, CCND1	rs7102705-A	0.211	5E-6		0.086	[0.049-0.123] cup size increase	Illumina [7422970] (imputed)	N
1113	chr11	69234493	69234494	rs4980785	22010048	Wu X	2011-10-18	Hum Mol Genet	A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.	Renal cell carcinoma	894 European ancestry cases, 1,516 European ancestry controls	3,772 European ancestry cases, 8,505 European ancestry controls	11q13.3	NR	rs4980785-?	NR	2E-6				Illumina [533191]	N
1113	chr11	69238122	69238123	rs11263654	25826619	Henrion MY	2015-03-31	PLoS One	Common Variation at 1q24.1 (ALDH9A1) Is a Potential Risk Factor for Renal Cancer.	Renal cell carcinoma	2,215 Western European ancestry cases, 8,566 Western European ancestry controls	2,844 European ancestry cases, 7,270 European ancestry controls	11q13.3	AX746803, AK094674	rs11263654-C	NR	1E-9	(Western European)	1.53	[1.39-1.67]	Illumina [up to 12182133] (imputed)	N
1113	chr11	69239740	69239741	rs7105934	21131975	Purdue MP	2010-12-05	Nat Genet	Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.	Renal cell carcinoma	3,772 European ancestry cases, 8,505 European ancestry controls	2,198 European ancestry cases, 4,918 European ancestry controls	11q13.3	intergenic	rs7105934-?	0.93	8E-14		1.45	[1.32-1.61]	Illumina [586069]	N
1113	chr11	69272095	69272096	rs1938679	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	11q13.3	CCND1	rs1938679-T	0.33	1E-11		0.032	[0.02-0.044] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1113	chr11	69279110	69279111	rs11607976	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q13.3	MYEOV	rs11607976-C	0.698	7E-7		0.016	[0.0099-0.0229] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1113	chr11	69279110	69279111	rs11607976	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q13.3	MYEOV	rs11607976-C	0.695	1E-6	(EA, men)	0.022	[0.013-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1113	chr11	69279110	69279111	rs11607976	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q13.3	MYEOV	rs11607976-C	0.694	8E-7	(EA)	0.017	[0.01-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1113	chr11	69307694	69307695	rs537626	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	11q13.3	CCND1	rs537626-?	0.18	2E-15		1.29	[1.21-1.37]	Illumina [1265548] (imputed)	N
1113	chr11	69328763	69328764	rs614367	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	11q13.3	CCND1	rs614367-?	0.16	1E-8		1.34	[NR]	Illumina [1265548] (imputed)	N
1113	chr11	69328763	69328764	rs614367	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	11q13.3	intergenic	rs614367-T	0.15	2E-63		1.21	[1.18-1.24]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1113	chr11	69328763	69328764	rs614367	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	11q13.3	FGF3, MYEOV, CCND1, ORAOV1, FGF19, FGF4	rs614367-T	0.15	3E-15		1.15	[1.10-1.20]	Illumina [582886]	N
1114	chr11	69367117	69367118	rs498136	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	11q13.3	CCND1	rs498136-A	0.32	2E-12		0.12	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
1114	chr11	69457292	69457293	rs1352075	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		11q13.3	NR	rs1352075-A	0.44	2E-6	(HD vs. non-HD)	1.42	[1.23-1.64]	Illumina [414804]	N
1115	chr11	69596522	69596523	rs4084127	21980299	Bradfield JP	2011-09-29	PLoS Genet	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Type 1 diabetes	9,934 European ancestry cases, 16,956 European ancestry controls	1,120 European ancestry affected trios	11q13.3	NR	rs4084127-?	NR	3E-6		1.11	[NR]	Affymetrix, Illumina [~ 2540000] (imputed)	N
1116	chr11	69600536	69600537	rs12808519	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	11q13.3	FGF4, FGF3	rs12808519-T	0.08	8E-7	(women)	0.182	[0.11-0.25] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1116	chr11	69602411	69602412	rs10796849	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q13.3	NR	rs10796849-C	0.111934	6E-6	(IGP73)	0.6132	[0.35-0.88] unit decrease	Illumina [~ 2500000] (imputed)	N
1116	chr11	69602411	69602412	rs10796849	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q13.3	NR	rs10796849-C	0.111934	6E-6	(IGP52)	0.6111	[0.35-0.88] unit decrease	Illumina [~ 2500000] (imputed)	N
1119	chr11	69999251	69999252	rs3781663	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	11q13.3	ANO1	rs3781663-?		8E-6	(disease-free survival)	2.24	[1.57-3.19]	Illumina [729737]	N
1119	chr11	70058418	70058419	rs78972067	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11q13.3	NR	rs78972067-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
1122	chr11	70417180	70417181	rs12281359	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	11q13.4	SHANK2	rs12281359-C	0.03	9E-6		0.247	[0.14-0.36] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1122	chr11	70506205	70506206	rs525304	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	11q13.4	SHANK2	rs525304-?	NR	3E-6	(Response)	0.04	[0.024-0.056] ng/dL increase	Affymetrix [2543887] (imputed)	N
1124	chr11	70665520	70665521	rs3017493	23432519	O'Brien RP	2013-02-21	Clin Transplant	A genome-wide association study of recipient genotype and medium-term kidney allograft function.	Renal transplant outcome	263 European ancestry individuals		11q13.4	NR	rs3017493-G	NR	5E-6	(Five-year creatinine)	0.2563	[NR] unit increase	Illumina [511662]	N
1125	chr11	70845203	70845204	rs35198051	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q13.4	SHANK2	rs35198051-A	0.262	1E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1127	chr11	71167448	71167449	rs12785878	20541252	Wang TJ	2010-06-09	Lancet	Common genetic determinants of vitamin D insufficiency: a genome-wide association study.	Vitamin D insufficiency	16,125 European ancestry individuals	17,871 European ancestry individuals	11q13.4	NADSYN1, DHCR7	rs12785878-?	0.23	2E-27				Affymetrix, Illumina [up to 2548976] (imputed)	N
1128	chr11	71194558	71194559	rs3829251	20418485	Ahn J	2010-04-23	Hum Mol Genet	Genome-wide association study of circulating vitamin D levels.	Vitamin D levels	4,501 European ancestry individuals	2,221 European ancestry individuals	11q13.4	NADSYN1, DHCR7	rs3829251-A	0.19	3E-9		0.18	[0.12-0.24] unit decrease	Affymetrix, Illumina [593253] (imputed)	N
1130	chr11	71524176	71524177	rs190164515	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11q13.4	NR	rs190164515-?	NR	4E-6	(Latino)	0.7365	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1132	chr11	71766173	71766174	rs7122209	25758998	Rubicz R	2015-03-11	Eur J Hum Genet	Genome-wide genetic investigation of serological measures of common infections.	Antibody level in response to infection	1,932 Mexican-American individuals	NA	11q13.4	NUMA1	rs7122209-C	0.003	8E-7	(C. pneumoniae)	1.98	[NR] unit decrease	Illumina [944565]	N
1133	chr11	71872776	71872777	rs559389	25221879	Wu K	2014-09-15	Am J Respir Crit Care Med	Genome-wide Interrogation of Longitudinal FEV1 in Children with Asthma.	Pulmonary function in asthmatics	510 European ancestry	NA	11q13.4	intergenic	rs559389-C	0.42	9E-6	(Baseline FEV1)	0.023	[NR] unit decrease	Illumina [473680]	N
1136	chr11	72250122	72250123	rs12418204	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	11q13.4	PDE2A	rs12418204-G	NR	5E-6		0.305	[0.11-0.50] unit increase	Illumina [~ 2740000] (imputed)	N
1136	chr11	72275908	72275909	rs183778342	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	11q13.4	intergenic	rs183778342-A	0.003	3E-6		1.273	[0.74-1.8] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1137	chr11	72373495	72373496	rs3781913	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	11q13.4	PDE2A, ARAP1	rs3781913-T	0.69	6E-10		1.12	[1.08-1.16]	Affymetrix, Illumina [1948139]	N
1137	chr11	72432984	72432985	rs11603334	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q13.4	ARAP1	rs11603334-A	0.172	9E-6	(EA)	0.018	[0.01-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1137	chr11	72432984	72432985	rs11603334	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q13.4	ARAP1	rs11603334-A	0.171	4E-6		0.018	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1137	chr11	72432984	72432985	rs11603334	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	11q13.4	ARAP1	rs11603334-?		2E-14				Affymetrix, Illumina [~ 2400000] (imputed)	N
1137	chr11	72432984	72432985	rs11603334	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	11q13.4	ARAP1	rs11603334-A	0.15	3E-102				Affymetrix, Illumina [~ 2500000] (imputed)	N
1137	chr11	72433097	72433098	rs1552224	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	11q13.4	CENTD2, ARAP1	rs1552224-A	0.83	1E-7		1.13	[1.08-1.19]	Affymetrix, Illumina [2500000] (imputed)	N
1137	chr11	72433097	72433098	rs1552224	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	11q13.4	CENTD2	rs1552224-A		1E-22		1.14	[1.11-1.17]	Affymetrix, Illumina [2426886] (imputed)	N
1137	chr11	72450723	72450724	rs67072384	25670933	Hanchard NA	2014-11-07	Transfus Med Hemother	A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease.	Alloimmunization response to red blood cell transfusion in sickle cell anemia	48 African American responder cases, 46 African American non-responder cases	NA	11q13.4	ARAP1, STARD10	rs67072384-T	0.11	7E-7		6.22	[NR]	Illumina [1008655]	N
1139	chr11	72670899	72670900	rs72981516	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	11q13.4	ATG16L2, FCHSD2	rs72981516-T	0.12	4E-7		1.28	[1.27-1.29]	Illumina [4929034] (imputed)	N
1140	chr11	72863696	72863697	rs11235667	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	11q13.4	STARD10, ATG16L2, FCHSD2	rs11235667-G	0.096	7E-9		1.46	[1.28-1.65]	Illumina [5664371] (imputed)	N
1141	chr11	72894272	72894273	rs11603160	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in asthmatics	1,881 European ancestry children, 810 children, 2,643 European ancestry adult individuals, 817 adult individuals	979 European ancestry children, 921 Hispanic children, 120 children	11q13.4	P2RY2	rs11603160-T	0.18	8E-6	(adult)			Illumina [up to 536451]	N
1141	chr11	72894847	72894848	rs1791933	22754043	Byrne EM	2012-07-01	Sleep	A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.	Insomnia (caffeine-induced)	2,402 European ancestry individuals from 1,470 families	NA	11q13.4	P2RY2	rs1791933-?	0.98	8E-6		3.7	[2.08-6.67]	Illumina [2380486] (imputed)	N
1141	chr11	72952495	72952496	rs10898909	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	11q13.4	P2RY2	rs10898909-?		4E-6	(AIRg)	1.41	[0.76-2.06] unit increase	Illumina [693128]	N
1142	chr11	73036480	73036481	rs2027760	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	11q13.4	ARHGEF	rs2027760-A	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1142	chr11	73036480	73036481	rs2027760	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	11q13.4	ARHGEF	rs2027760-A	NR	1E-6	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
1144	chr11	73312251	73312252	rs10751226	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	11q13.4	FAM168A, PLEKHB	rs10751226-T	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1144	chr11	73312251	73312252	rs10751226	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	11q13.4	FAM168A, PLEKHB	rs10751226-T	NR	3E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
1144	chr11	73359235	73359236	rs1784499	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	11q13.4	PLEKHB1	rs1784499-?		6E-6	(MCRI)	0.97	[0.54-1.4] unit increase	Illumina [693128]	N
1145	chr11	73477044	73477045	rs1723838	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q13.4	RAB6A, MRPL48	rs1723838-A	0.032	4E-6	(Diet carbohydrate )	0.02	[NR] %energy increase	Illumina [899892]	N
1149	chr11	74052263	74052264	rs41349744	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal atrophy	325 European ancestry older adult individuals	NA	11q13.4	PGM2L1, P4HA3	rs41349744-?		5E-6				Affymetrix [at least 734550] (imputed)	N
1150	chr11	74168410	74168411	rs2270676	22144915	Fan Q	2011-12-01	PLoS Genet	Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.	Corneal astigmatism	1,231 Chinese ancestry cases, 785 Chinese ancestry controls, 1,018 Malay ancestry cases, 1,220 Malay ancestry controls	825 Indian ancestry cases, 1,314 Indian ancestry controls, 760 Chinese ancestry child cases, 169 Chinese ancestry child controls, 397 Chinese ancestry trios	11q13.4	KCNE3	rs2270676-G	NR	5E-6		1.29	[1.17-1.41]	Illumina [460528]	N
1152	chr11	74345549	74345550	rs3824999	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	11q13.4	POLD3	rs3824999-G	0.53	1E-6		1.0752687	[1.05-1.1]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1152	chr11	74345549	74345550	rs3824999	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	11q13.4	POLD3	rs3824999-C	0.47	8E-11		1.15	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
1152	chr11	74345549	74345550	rs3824999	22634755	Dunlop MG	2012-05-27	Nat Genet	Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.	Colorectal cancer	8,323 European ancestry cases, 9,457 European ancestry controls	19,513 European ancestry cases, 17,657 European ancestry controls, 1,583 Japanese ancestry cases, 1,898 Japanese ancestry controls	11q13.4	POLD3	rs3824999-?	NR	4E-10		1.08	[1.05-1.10]	Illumina [NR] (imputed)	N
1152	chr11	74399424	74399425	rs1893361	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	11q13.4	CHRDL2	rs1893361-?	NR	7E-7	(Latino)	1.66	[1.46-1.86]	Affymetrix, Illumina [NR] (imputed)	N
1156	chr11	74971556	74971557	rs17133858	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	11q13.4	ARRB1	rs17133858-T	0.14	6E-6	(AA-triglyceride response)	20.99	[11.92-30.06] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1159	chr11	75276177	75276178	rs606452	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	11q13.5	SERPINH1	rs606452-A	0.47	1E-16		0.039	[0.027-0.051] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1159	chr11	75276177	75276178	rs606452	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	11q13.5	SERPINH1	rs606452-A	0.142	2E-23		0.043	[0.035-0.051] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1159	chr11	75276177	75276178	rs606452	22021425	Carty CL	2011-10-21	Hum Mol Genet	Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).	Height	8,149 African American female individuals	Up to 20,809 African American and African ancestry individuals	11q13.5	SERPINH1	rs606452-C	0.64	2E-9		0.043	[0.023-0.063] unit decrease	Affymetrix [855034]	N
1159	chr11	75282051	75282052	rs634552	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11q13.5	SERPINH1	rs634552-T	0.14	4E-13		0.039	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1160	chr11	75455020	75455021	rs499974	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11q13.5	MOGAT2, DGAT2	rs499974-A	0.19	1E-8		0.026	[NR] unit decrease	NR [NR] (imputed)	N
1160	chr11	75455308	75455309	rs600626	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	8,631 European ancestry individuals	NA	11q13.5	MOGAT2	rs600626-A	0.827	5E-6		0.07	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1164	chr11	75909618	75909619	rs4944092	20062060	Pfeufer A	2010-01-10	Nat Genet	Genome-wide association study of PR interval.	PR interval	28,517 European ancestry individuals	NA	11q13.5	WNT11	rs4944092-G	0.32	3E-8		1.19	[0.77-1.61] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1166	chr11	76248629	76248630	rs61894547	25407941	Sleiman PM	2014-11-19	Nat Commun	GWAS identifies four novel eosinophilic esophagitis loci.	Eosinophilic esophagitis	603 European ancestry cases, 3,637 European ancestry controls	333 European ancestry cases, 675 European ancestry controls	11q13.5	C11orf30	rs61894547-T	0.043	4E-11		2.439	[2.17-2.7]	Illumina [~ 2300000] (imputed)	N
1166	chr11	76267476	76267477	rs55904328	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11q13.5	NR	rs55904328-?	NR	6E-8	(AA)	0.4203	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1166	chr11	76270682	76270683	rs7130588	23886662	Weidinger S	2013-07-25	Hum Mol Genet	A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.	Atopic dermatitis	1563 European ancestry cases, 4,054 European ancestry controls	2,286 European ancestry cases, 3,160 European ancestry controls	11q13.5	LRRC32, C11orf30	rs7130588-G	NR	4E-13		1.29	[1.2-1.38]	Illumina [2406139] (imputed)	N
1166	chr11	76270682	76270683	rs7130588	21907864	Ferreira MA	2011-09-10	Lancet	Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.	Asthma	12,475 European ancestry cases, 19,967 European ancestry controls	3,322 European ancestry cases, 22,036 European ancestry controls	11q13.5	LRRC32	rs7130588-G	0.34	2E-8		1.09	[1.06-1.13]	Illumina [NR] (imputed)	N
1166	chr11	76281592	76281593	rs2212434	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	11q13.5	C11orf30	rs2212434-?	NR	3E-12	(Atopic dermatitis)	1.29	[1.21-1.39]	Affymetrix, Illumina [~ 5200000]	N
1167	chr11	76299193	76299194	rs2155219	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q13.5	NR	rs2155219-A	0.4994	8E-21	(EA)	1.1254078	[1.1-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1167	chr11	76299193	76299194	rs2155219	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q13.5	NR	rs2155219-A	0.4994	6E-46	(EA)	1.188493	[1.16-1.21]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1167	chr11	76299193	76299194	rs2155219	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	11q13.5	LRRC32, C11orf30	rs2155219-A	0.51	4E-7		1.37	[NR]	Illumina [1468075]	N
1167	chr11	76299193	76299194	rs2155219	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	11q13.5	LRRC32, C11orf30	rs2155219-T	0.47	1E-18		1.18	[1.13-1.22]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1167	chr11	76299193	76299194	rs2155219	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	11q13.5	LRRC32, C11orf30	rs2155219-T	0.5146	2E-19		0.1081	[0.085-0.132] unit increase	Illumina [2400000] (imputed)	N
1167	chr11	76299193	76299194	rs2155219	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	11q13.5	intergenic	rs2155219-T	0.509	4E-36		1.151	[1.119-1.185]	Affymetrix, Illumina [1230000] (imputed)	N
1167	chr11	76299193	76299194	rs2155219	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	11q13.5	LRRC32, C11orf30	rs2155219-T	0.47	1E-8		1.22	[1.14-1.31]	Affymetrix, Illumina [2217510] (imputed)	N
1167	chr11	76299193	76299194	rs2155219	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	Allergic rhinitis	3,933 European ancestry cases, 8,965 European ancestry controls	NA	11q13.5	LRRC32, C11orf30	rs2155219-T	0.47	4E-8		1.17	[1.11-1.24]	Affymetrix, Illumina [2217510] (imputed)	N
1167	chr11	76299193	76299194	rs2155219	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	11q13.5	intergenic	rs2155219-T	0.5	5E-16		1.13	[1.08-1.17]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1167	chr11	76299648	76299649	rs11236797	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q13.5	NR	rs11236797-?	NR	9E-52	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1167	chr11	76301315	76301316	rs7927894	19349984	Esparza-Gordillo J	2009-04-06	Nat Genet	A common variant on chromosome 11q13 is associated with atopic dermatitis.	Atopic dermatitis	939 European ancestry cases, 975 European ancestry controls, 1,097 European ancestry individuals from 270 families	2,637 European ancestry cases, 3,957 European ancestry controls	11q13.5	C11orf30	rs7927894-A	0.36	8E-10		1.22	[1.15-1.30]	Affymetrix [342303]	N
1167	chr11	76301315	76301316	rs7927894	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	11q13.5	C11orf30	rs7927894-T	0.39	1E-9		1.16	[NR]	Affymetrix, Illumina [635547] (imputed)	N
1167	chr11	76301374	76301375	rs7927997	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	11q13.5	C11orf30	rs7927997-T	0.389	6E-13		1.17	[1.12-1.22]	Affymetrix, Illumina [953241] (imputed)	N
1167	chr11	76332209	76332210	rs11236809	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	11q13.5	C11orf30	rs11236809-G	0.25	3E-6		1.24	[NR]	Illumina [606164]	N
1168	chr11	76465780	76465781	rs147269019	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	11q13.5	NR	rs147269019-C	0.011	9E-6		0.461	[0.26-0.66] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1171	chr11	76823483	76823484	rs3781684	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	11q13.5	CAPN5	rs3781684-?	0.1135	7E-6	(VRM)			Illumina [475971]	N
1171	chr11	76832445	76832446	rs77301713	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	11q13.5	NR	rs77301713-?	0.02	1E-7		2.22	[NR]	Illumina [1468075]	N
1171	chr11	76922580	76922581	rs55770291	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	11q13.5	MYO7A	rs55770291-A	0.0114	4E-6	(Ordinal I)	1.6201	[0.93-2.31] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1173	chr11	77154638	77154639	rs527589	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	11q14.1	NR	rs527589-?	NR	3E-6	(CL_CLP)	1.75	[1.37-2.22]	Illumina [NR]	N
1174	chr11	77300047	77300048	rs7129556	23643386	Hatoum IJ	2013-05-02	Am J Hum Genet	Weight loss after gastric bypass is associated with a variant at 15q26.1.	Weight loss (gastric bypass surgery)	693 European ancestry individuals	327 European ancestry individuals	11q14.1	AQP11	rs7129556-T	NR	4E-6		2.07	[1.19-2.95] unit decrease	Illumina [1943170] (imputed)	N
1180	chr11	78048523	78048524	rs2063730	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11q14.1	GAB2, THRSP	rs2063730-C	0.18	2E-12		0.05	[0.036-0.064] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1180	chr11	78091149	78091150	rs2373115	17553421	Reiman EM	2007-06-07	Neuron	GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.	Alzheimer's disease (late onset)	446 cases, 290 controls	415 cases, 260 controls	11q14.1	GAB2	rs2373115-G	0.70	1E-10		4.06	[2.81-14.69]	Affymetrix [312316]	N
1180	chr11	78095372	78095373	rs10899489	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	11q14.1	GAB2	rs10899489-A	0.15	8E-9		3.1	[2.12-4.08] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1181	chr11	78204379	78204380	rs4474465	25649651	Wang X	2015-02-03	J Alzheimers Dis	Genetic Determinants of Survival in Patients with Alzheimer's Disease.	Alzheimer's disease (survival time)	983 cases	NA	11q14.1	NARS2, GAB2	rs4474465-?		3E-6		1.44	[NR]	Illumina [803323]	N
1185	chr11	78659144	78659145	rs11826937	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	11q14.1	ODZ4	rs11826937-A	0.97	3E-6		0.6	[0.35-0.85] unit decrease	Illumina [2675979] (imputed)	N
1187	chr11	78992685	78992686	rs1151200	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q14.1	ODZ4	rs1151200-G	0.419	4E-7	(Birth weight )	0.06	[NR] kg increase	Illumina [899892]	N
1188	chr11	79065100	79065101	rs530965	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	11q14.1	intergenic	rs530965-?	NR	4E-6	(Nam)			Affymetrix [70897]	N
1188	chr11	79077192	79077193	rs12576775	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	11q14.1	ODZ4	rs12576775-?	0.175	4E-8	(Modelling analysis)			NR [1252901] (imputed)	N
1188	chr11	79077192	79077193	rs12576775	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	11q14.1	ODZ4	rs12576775-G	NR	4E-8		1.14	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
1188	chr11	79083619	79083620	rs12290811	24618891	Muhleisen	2014-03-11	Nat Commun	Genome-wide association study reveals two new risk loci for bipolar disorder.	Bipolar disorder	9,747 European ancestry cases, 14,278 European ancestry controls	NA	11q14.1	ODZ4	rs12290811-A	NR	1E-9		1.19	[NR]	Illumina [2267487] (imputed)	N
1188	chr11	79083619	79083620	rs12290811	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	11q14.1	NR	rs12290811-A	0.15	4E-6		1.2	[NR]	Affymetrix [1769948] (imputed)	N
1191	chr11	79441693	79441694	rs11237982	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	11q14.1	ODZ4, NARS2	rs11237982-T	0.15	8E-7	(RAVLT-dr, EA)	0.3923	[0.24-0.55] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1191	chr11	79441693	79441694	rs11237982	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	11q14.1	ODZ4, NARS2	rs11237982-T	0.15	6E-7	(RAVLT-dr)	0.371	[0.23-0.52] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1191	chr11	79485136	79485137	rs12270115	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	11q14.1	NR	rs12270115-A	0.1334	5E-6		0.15	[0.088-0.22] unit increase	Affymetrix, Illumina [2403520] (imputed)	N
1195	chr11	79962148	79962149	rs11231991	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	11q14.1	intergenic	rs11231991-?	NR	4E-6	(EA)	0.0199	[0.01147-0.02826] unit decrease	Illumina [1530316]	N
1195	chr11	80058478	80058479	rs7395555	23241943	Clark SL	2012-12-12	Pharmacogenet Genomics	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	Response to antipsychotic treatment	Up to 421 European ancestry Schizophrenia cases, up to 214 African American individuals, up to 103 individuals	NA	11q14.1	intergenic	rs7395555-C	0.145	2E-7	(Effect of Ziprasidone on CGI-S)			Affymetrix [492900]	N
1197	chr11	80311670	80311671	rs2140930	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q14.1	NR	rs2140930-G	0.348471261394102	5E-6	(IGP58)	0.1678	[0.095-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
1198	chr11	80377051	80377052	rs17140547	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	11q14.1	intergenic	rs17140547-T	0.02	8E-6		532.56	[NR] unit decrease	Illumina [2380200] (imputed)	N
1198	chr11	80389698	80389699	rs1917861	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	11q14.1	ODZ4, PRCP	rs1917861-G	0.67	1E-6	(Women)	0.010929617	[0.0065-0.0153] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1199	chr11	80562737	80562738	rs11232369	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	11q14.1	AC018897.4	rs11232369-?	NR	8E-6	(Digit Span Forward)			Illumina [up to 563855]	N
1201	chr11	80854374	80854375	rs1357339	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	11q14.1	intergenic	rs1357339-?	0.04	5E-6				Illumina [1212217]	N
1202	chr11	80928808	80928809	rs11232535	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	11q14.1	intergenic	rs11232535-?	NR	7E-7		0.325	[0.20-0.45] unit increase	Illumina [> 2500000] (imputed)	N
1202	chr11	80932426	80932427	rs7125940	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	11q14.1	MIR4300	rs7125940-T	NR	7E-7	(Perc15, All)	1.9	[-0.06-3.86] unit decrease	Illumina [7600000] (imputed)	N
1202	chr11	80932826	80932827	rs7947523	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	11q14.1	MIR4300	rs7947523-C	NR	5E-7	(%LAA-950, All)	0.086	[-0.00808-0.18008] unit decrease	Illumina [7600000] (imputed)	N
1202	chr11	80985547	80985548	rs1458095	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	11q14.1	NR	rs1458095-G	0.90	7E-6	(females)	0.19	[NR] kg increase	Illumina [318237]	N
1203	chr11	81002798	81002799	rs7124972	25524241	Richter HE	2014-12-15	J Urol	Genetic Contributions to Urgency Urinary Incontinence in Women.	Urgency urinary incontinence	1,102 European ancestry cases, 405 European ancestry controls	1,133 European ancestry cases, 371 European ancestry controls	11q14.1	intergenic	rs7124972-?	NR	6E-7		3.0	[1.97-4.57]	Illumina [9077347] (imputed)	N
1204	chr11	81202909	81202910	rs7122181	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q14.1	NR	rs7122181-T	NR	2E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1204	chr11	81235149	81235150	rs2032381	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	11q14.1	NR	rs2032381-G	0.9212	4E-6		5.6947	[NR] unit decrease	Illumina [1200000] (imputed)	N
1215	chr11	82649767	82649768	rs10792665	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q14.1	C11orf82	rs10792665-C	0.443	6E-6	(Total T3 )	0.03	[NR] ng/dL increase	Illumina [899892]	N
1216	chr11	82723071	82723072	rs11233413	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	11q14.1	RAB30	rs11233413-T	NR	4E-7		0.108	[0.067-0.149] unit decrease	Illumina [628922]	N
1216	chr11	82821381	82821382	rs4293143	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	11q14.1	PCF11, RAB30	rs4293143-?	0.31	8E-6	(EA)	1.18	[1.1-1.27]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1217	chr11	82876269	82876270	rs1943345	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q14.1	PCF11	rs1943345-C	0.239	7E-6	(Moderate activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1219	chr11	83199275	83199276	rs1864774	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q14.1	NR	rs1864774-C	NR	9E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1220	chr11	83256867	83256868	rs2116483	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q14.1	DLG2	rs2116483-A	0.416	8E-6	(Energy intake )	0.02	[NR] kcal/d increase	Illumina [899892]	N
1220	chr11	83276167	83276168	rs683250	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	11q14.1	DLG2	rs683250-A	0.63	4E-11	(Putamen, EA)	27.95	[19.66-36.24] mm3 decrease	Affymetrix, Illumina [NR] (imputed)	N
1221	chr11	83455706	83455707	rs3885683	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	11q14.1	DLG2	rs3885683-?	0.11	8E-6	(MCP1)			Illumina [496032]	N
1222	chr11	83544471	83544472	rs3793947	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	11q14.1	DLG2	rs3793947-G	0.557	4E-7		1.0764	[1.05-1.11]	Illumina [7893274] (imputed)	N
1222	chr11	83580305	83580306	rs76809954	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11q14.1	NR	rs76809954-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
1222	chr11	83620786	83620787	rs790356	22544364	Turnbull C	2012-04-29	Nat Genet	A genome-wide association study identifies susceptibility loci for Wilms tumor.	Wilms tumor	757 European ancestry cases, 1,879 European ancestry controls	1,488 European ancestry cases, 3,851 European ancestry controls	11q14.1	DLG2	rs790356-G	0.5	4E-15		1.28	[1.17-1.39]	Illumina [599255]	N
1225	chr11	83892523	83892524	rs1670685	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	11q14.1	DLG2	rs1670685-G	0.02	3E-6		0.183	[0.11-0.26] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1227	chr11	84247122	84247123	rs10501568	25008200	Feng P	2014-07-09	BMC Oral Health	Genome wide association scan for chronic periodontitis implicates novel locus.	Chronic periodontitis	63 European ancestry cases, 543 European ancestry controls, up to 32 African American cases, up to 158 African American controls, up to 4 cases, up to 66 controls	495 European ancestry cases, 981 European ancestry controls, 118 African ancestry cases, 225 African ancestry controls	11q14.1	DLG2	rs10501568-?	NR	9E-6				Illumina [473514]	N
1229	chr11	84417845	84417846	rs10501570	17052657	Fung HC	2006-09-28	Lancet Neurol	Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.	Parkinson's disease	267 European ancestry cases, 270 European ancestry controls	NA	11q14.1	DLG2	rs10501570-?	NR	7E-6		5.0	[2.00-12.50]	Illumina [408803]	N
1230	chr11	84589921	84589922	rs17147674	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	11q14.1	DLG2	rs17147674-T	0.032	5E-6	(HRTSE)	2.2	[1.26-3.14] unit decrease	Illumina [799713]	N
1232	chr11	84822320	84822321	rs1452928	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	11q14.1	intergenic	rs1452928-?	NR	7E-7	(ShaftW1f)			Affymetrix [70897]	N
1233	chr11	85017475	85017476	rs17148090	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	11q14.1	DLG2	rs17148090-?	NR	4E-8	(levels)	0.7	[NR] % increase	Illumina [NR] (imputed)	N
1234	chr11	85164750	85164751	rs10898392	19570815	Estrada K	2009-07-01	Hum Mol Genet	A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.	Height	10,074 European ancestry individuals	6,912 European ancestry individuals	11q14.1	TMEM126B, TMEM126A	rs10898392-T	NR	3E-6				Affymetrix, Illumina, Perlegen [2228850] (imputed)	N
1234	chr11	85193868	85193869	rs286499	25584925	Chen W	2015-01-13	Ann Am Thorac Soc	A Genome-Wide Association Study of Chronic Obstructive Pulmonary Disease in Hispanics.	Chronic obstructive pulmonary disease	94 Costa Rican founder population smoker cases, 412 Costa Rican founder population smoker controls, 63 Hispanic ancestry cases, 619 Hispanic ancestry controls	47 Hispanic ancestry smoker cases, 290 Hispanic ancestry smoker controls	11q14.1	DLG2	rs286499-G	0.86	8E-8		1.2	[NR] unit decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1238	chr11	85677470	85677471	rs17817600	22832961	Kamboh MI	2012-05-15	Transl Psychiatry	Genome-wide association study of Alzheimer's disease.	Alzheimer's disease	1,291 European ancestry cases, 938 European ancestry controls	509 European ancestry cases, 753 European ancestry controls, 2,218 cases, 2,583 controls	11q14.2	PICALM	rs17817600-?	NR	2E-8		1.33	[NR]	Illumina [2543888] (imputed)	N
1238	chr11	85681582	85681583	rs639012	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	11q14.2	PICALM	rs639012-G	0.7	1E-7		1.1627907	[1.1-1.22]	NR [NR]	N
1239	chr11	85783737	85783738	rs621942	22889924	Scharf JM	2012-08-14	Mol Psychiatry	Genome-wide association study of Tourette's syndrome.	Tourette syndrome	778 European ancestry cases, 4,414 European ancestry controls, 242 Ashkenazi Jewish cases, 354 Ashkenazi Jewish controls, 265 French Canadian founder cases, 196 French Canadian founder controls	211 Latin American cases, 285 Latin American controls	11q14.2	PICALM	rs621942-A	.24	9E-6		1.22	[NR]	Illumina [484295]	N
1239	chr11	85787823	85787824	rs536841	21627779	Antunez C	2011-05-31	Genome Med	The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.	Alzheimer's disease	319 European ancestry cases, 769 European ancestry controls, 2,690 cases, 2,237 controls	4,982 European ancestry cases, 7,961 European ancestry controls, 2,190 cases, 3,374 controls	11q14.2	PICALM	rs536841-?	NR	3E-9		1.16	[NR]	Affymetrix, Illumina [696707] (imputed)	N
1239	chr11	85800278	85800279	rs561655	21460841	Naj AC	2011-04-03	Nat Genet	Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	8,309 European ancestry cases, 7,366 European ancestry controls	10,523 European ancestry cases, 28,231 European ancestry controls	11q14.2	PICALM	rs561655-?	0.66	7E-11		1.15	[1.10-1.19]	Affymetrix, Illumina [2324889] (imputed)	N
1239	chr11	85831540	85831541	rs471470	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	11q14.2	PICALM	rs471470-A	0.68	3E-8		1.1627907	[1.1-1.23]	NR [NR]	N
1239	chr11	85838807	85838808	rs10792830	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	11q14.2	AP003097.1	rs10792830-?	0.44	6E-6		1.25	[NR]	Illumina [1847262] (imputed)	N
1240	chr11	85867874	85867875	rs10792832	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	11q14.2	PICALM	rs10792832-G	0.65	4E-6		1.14	[1.08-1.19]	NR [NR]	N
1240	chr11	85867874	85867875	rs10792832	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	11q14.2	PICALM	rs10792832-G	0.642	9E-26		1.1494	[1.12-1.18]	Illumina [7055881] (imputed)	N
1240	chr11	85868639	85868640	rs3851179	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	11q14.2	PICALM	rs3851179-C	0.65	2E-6		1.1235955	[1.06-1.18]	NR [NR]	N
1240	chr11	85868639	85868640	rs3851179	19734902	Harold D	2009-09-06	Nat Genet	Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.	Alzheimer's disease	3,941 European ancestry cases, 7,848 European ancestry controls	2,023 European ancestry cases, 2,340 European ancestry controls	11q14.2	PICALM	rs3851179-?	0.63	1E-9		1.16	[1.11-1.22]	Illumina [529205]	N
1241	chr11	86055900	86055901	rs6592284	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	11q14.2	C11orf73	rs6592284-?	0.21	2E-6	(IED)			Illumina [475971]	N
1241	chr11	86104494	86104495	rs118086209	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	11q14.2	CCDC81	rs118086209-C	0.02	2E-7		2.19	[NR]	Illumina [1468075]	N
1241	chr11	86108473	86108474	rs4944571	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	11q14.2	CCDC81, ME3	rs4944571-G	0.34	9E-6		0.072	[0.041-0.103] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1242	chr11	86188151	86188152	rs1870323	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)	119 Japanese ancestry cases, 105 Japanese ancestry controls	NA	11q14.2	ME3	rs1870323-T	0.64	2E-6	(Allelic)	2.92	[1.87-4.57]	Illumina [555600]	N
1244	chr11	86414281	86414282	rs2512987	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (doxorubicin)	83 Japanese ancestry cases, 66 Japanese ancestry controls	NA	11q14.2	ME3	rs2512987-T	0.417	7E-6	(Allelic model)	2.985	[1.855-4.803]	Illumina [733202]	N
1247	chr11	86853996	86853997	rs597319	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	730 East Asian ancestry individuals, 2,380 European ancestry individuals, 11,150 individuals	11,058 European ancestry individuals, 2,870 European and other ancestry individuals, 21,439 individuals	11q14.2	TMEM135	rs597319-G	0.31	8E-14	(BUA)	0.06	[0.04-0.07] unit decrease	Affymetrix, Illumina [up to 2609590] (imputed)	N
1247	chr11	86853996	86853997	rs597319	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	11q14.2	TMEM135	rs597319-G	0.33	5E-26	(VOS)	0.07	[0.06-0.08] unit decrease	Affymetrix, Illumina [up to 2609590] (imputed)	N
1249	chr11	87125437	87125438	rs6592362	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	11q14.2	intergenic	rs6592362-A	0.248	2E-8		1.083	[1.049-1.117]	Affymetrix, Illumina [1230000] (imputed)	N
1255	chr11	87819426	87819427	rs1386330	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (age of onset)	978 European ancestry cases, 883 European ancestry controls	NA	11q14.2	RAB38	rs1386330-?	0.13	2E-6			[NR]	Illumina [551642]	N
1255	chr11	87876910	87876911	rs302668	24943344	Ferrari R	2014-07-01	Lancet Neurol	Frontotemporal dementia and its subtypes: a genome-wide association study.	Frontotemporal dementia	1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls	690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls	11q14.2	RAB38	rs302668-T	0.708	2E-7	(Behavioural variant FTD)	1.23	[1.09-1.41]	Illumina [6026385] (imputed)	N
1256	chr11	87949531	87949532	rs682457	24677629	Wolf EJ	2014-03-27	Depress Anxiety	A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.	Post-traumatic stress disorder	484 European ancestry trauma-exposed individuals	NA	11q14.2	MIR3166	rs682457-?		1E-6		1.11	[0.68-1.54] unit increase	Illumina [1197702]	N
1257	chr11	88174967	88174968	rs11019935	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11q14.2	NR	rs11019935-?	NR	3E-7	(EA)	0.8885	[0.55-1.22] unit decrease	Illumina [up to 11892802] (imputed)	N
1257	chr11	88174967	88174968	rs11019935	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11q14.2	NR	rs11019935-?	NR	3E-7	(EA)	0.7379	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1258	chr11	88321723	88321724	rs16914280	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	11q14.2	intergenic	rs16914280-?	NR	3E-7	(progression)			Illumina [NR]	N
1260	chr11	88557990	88557991	rs10831496	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	11q14.3	GRM5	rs10831496-G	NR	5E-9		0.14	[0.10-0.18] tanning ability score decrease	Illumina [528173]	N
1261	chr11	88668139	88668140	rs518167	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	11q14.3	GRM5	rs518167-?		2E-6		2.24	[NR]	Illumina [452367]	N
1262	chr11	88741659	88741660	rs5016282	22012869	Hinney A	2011-10-19	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study in German patients with attention deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	495 European ancestry child and adolescent cases, 1,300 European ancestry adult controls	1,023 European ancestry individuals from 320 families, 2455 European ancestry cases and 896 European ancestry controls from 2,064 trios	11q14.3	GRM5	rs5016282-A	NR	1E-6				Illumina [487484]	N
1263	chr11	88891113	88891114	rs10830228	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	11q14.3	TYR	rs10830228-A	0.42	9E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1263	chr11	88911695	88911696	rs1042602	17999355	Stokowski RP	2007-10-15	Am J Hum Genet	A genomewide association study of skin pigmentation in a South Asian population.	Skin pigmentation	363 South Asian ancestry low maxL* individuals, 374 South Asian ancestry high maxL* individuals	116 South Asian ancestry low maxL* individuals, 115 South Asian ancestry high maxL* individuals	11q14.3	TYR	rs1042602-C	0.84	4E-10		4.36	[2.64-7.20]	Perlegen [1502205]	N
1263	chr11	88911695	88911696	rs1042602	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Freckles	2,986 individuals	3,932 individuals	11q14.3	TYR	rs1042602-C	0.67	2E-11		1.32	[1.17-1.49]	Illumina [317511]	N
1263	chr11	88913662	88913663	rs621313	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	11q14.3	TYR	rs621313-?	0.49	4E-6	(EA)	1.15	[1.09-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1264	chr11	89005252	89005253	rs1847134	24980573	Song F	2014-06-30	Carcinogenesis	Identification of a melanoma susceptibility locus and somatic mutation in TET2.	Melanoma	494 European ancestry cases, 5,628 European ancestry controls	5,383 European ancestry cases, 13,033 European ancestry controls	11q14.3	TYR	rs1847134-?		6E-8		1.25	[1.15-1.35]	Affymetrix, Illumina [1579307] (imputed)	N
1264	chr11	89005252	89005253	rs1847134	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eye color	9,126 European ancestry individuals	NA	11q14.3	TYR	rs1847134-A	0.68	1E-15	(green eyes)	1.58	[NR]	Illumina [535076]	N
1264	chr11	89011045	89011046	rs1393350	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	11q14.3	TYR	rs1393350-A	0.28	2E-13		1.3	[1.21-1.39]	Illumina [594997]	N
1264	chr11	89011045	89011046	rs1393350	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eye color	9,126 European ancestry individuals	NA	11q14.3	TYR	rs1393350-A	0.27	3E-9	(eye color)	0.28	[NR] unit decrease	Illumina [535076]	N
1264	chr11	89011045	89011046	rs1393350	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	11q14.3	TYR	rs1393350-G	0.733	2E-18		1.53	[1.39-1.68]	Illumina [520460]	N
1264	chr11	89011045	89011046	rs1393350	19578364	Bishop DT	2009-07-05	Nat Genet	Genome-wide association study identifies three loci associated with melanoma risk.	Melanoma	1,539 European ancestry cases, 3,917 European ancestry controls	2,312 European ancestry cases, 1,867 European ancestry controls	11q14.3	TYR	rs1393350-A	0.27	2E-14		1.29	[1.21-1.38]	Illumina [~ 317000]	N
1264	chr11	89011045	89011046	rs1393350	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	11q14.3	TYR	rs1393350-A	NR	2E-13		0.19	[0.13-0.25] tanning ability score increase	Illumina [528173]	N
1264	chr11	89011045	89011046	rs1393350	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Skin sensitivity to sun	2,986 individuals	3,932 individuals	11q14.3	TYR	rs1393350-A	0.27	2E-6		1.26	[1.11-1.43]	Illumina [317511]	N
1264	chr11	89011045	89011046	rs1393350	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Blue vs. green eyes	2,986 individuals	3,932 individuals	11q14.3	TYR	rs1393350-A	0.23	3E-12		1.52	[1.28-1.81]	Illumina [317511]	N
1264	chr11	89017960	89017961	rs1126809	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Tanning	9,678 European ancestry individuals		11q14.3	TYR	rs1126809-G	NR	5E-21		0.12	[0.10-0.14] unit decrease	Affymetrix, Illumina [7588169] (imputed)	N
1264	chr11	89017960	89017961	rs1126809	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Sunburns	9,283 European ancestry individuals	4,236 European ancestry individuals	11q14.3	TYR	rs1126809-G	NR	2E-8		0.6	[0.38-0.82] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
1264	chr11	89112649	89112650	rs10830265	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q14.3	NOX4	rs10830265-A	0.187	8E-6	(Hcy )	0.02	[NR] umol/L increase	Illumina [899892]	N
1265	chr11	89148371	89148372	rs7130284	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	11q14.3	NOX4	rs7130284-T	0.07	2E-20		0.1242	[0.099-0.15] unit decrease	Affymetrix, Illumina [2090256] (imputed)	N
1265	chr11	89201626	89201627	rs957140	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	11q14.3	NOX4	rs957140-A	0.45	2E-8		0.045	[0.029-0.061] unit decrease	Affymetrix, Illumina [2090256] (imputed)	N
1266	chr11	89345024	89345025	rs1488902	20801717	Shatunov A	2010-10-01	Lancet Neurol	Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.	Amyotrophic lateral sclerosis	4,857 European ancestry cases, 8,987 European ancestry controls	NA	11q14.3	NR	rs1488902-C	NR	3E-6		1.145	[NR]	Illumina [227475]	N
1267	chr11	89466731	89466732	rs17221829	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety in major depressive disorder	1,080 European ancestry cases, 442 European ancestry controls	NA	11q14.3	LOC100130203	rs17221829-A	0.38	5E-6	(Quantitative)	0.4408	[NR] unit decrease	Illumina [471581]	N
1267	chr11	89502375	89502376	rs2130017	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	11q14.3	TRIM49	rs2130017-?	NR	8E-6				Affymetrix, Illumina [~ 1300000]	N
1268	chr11	89548728	89548729	rs4517514	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q14.3	NR	rs4517514-T	0.1359	3E-6	(Trans/trans-18:2, EA)	0.0028	[0.0016-0.004] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1268	chr11	89548848	89548849	rs4517515	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q14.3	NR	rs4517515-T	0.1358	3E-6	(Trans/trans-18:2, EA)	0.0028	[0.0016-0.004] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1270	chr11	89875436	89875437	rs11018874	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	11q14.3	NAALAD2	rs11018874-G	0.69	2E-9	(basophil count)	0.077	[0.05-0.11] unit increase	Illumina [2178645] (imputed)	N
1276	chr11	90576100	90576101	rs13377206	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	11q14.3	MIR4490	rs13377206-A	0.83	3E-6	(Left HG thickness)	0.0437	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
1276	chr11	90586899	90586900	rs12274302	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	11q14.3	intergenic	rs12274302-?	NR	4E-7	(progression)			Illumina [NR]	N
1278	chr11	90884338	90884339	rs1528753	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	11q14.3	intergenic	rs1528753-?	NR	8E-8	(age at death)			Affymetrix [70897]	N
1278	chr11	90956213	90956214	rs4491175	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	11q14.3	MIR1261	rs4491175-T	NR	8E-6	(AA)	1.1	[0.59-1.61] unit increase	Affymetrix [~ 2300000] (imputed)	N
1284	chr11	91657275	91657276	rs10501765	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	11q14.3	FAT3	rs10501765-?		8E-6				Illumina [859311]	N
1286	chr11	91952153	91952154	rs1350445	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Subclinical atherosclerosis traits (other)	Up to 984 individuals	NA	11q14.3	intergenic	rs1350445-?	NR	9E-6	(ABI)			Affymetrix [70897]	N
1286	chr11	91979017	91979018	rs12786200	25710658	Diouf B	2015-02-24	JAMA	Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia.	Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia	53 European ancestry cases with peripheral neuropathy, 156 cases without peripheral neuropathy, 10 African ancestry cases with peripheral neuropathy, 33 African ancestry cases without peripheral neuropathy, 1 Asian ancestry case with peripheral neuropathy, 1 Asian ancestry case without peripheral neuropathy, 14 Hispanic cases with peripheral neuropathy, 30 Hispanic cases without peripheral neuropathy, 8 cases with peripheral neuropathy, 15 cases without peripheral neuropathy	NA	11q14.3	MTNR1B	rs12786200-?	NR	3E-8		4.35	[2.50-7.69]	Affymetrix [1576016] (imputed)	N
1286	chr11	92007100	92007101	rs1318862	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	11q14.3	FAT3	rs1318862-T	0.58	6E-9	(Caudate, EA)	26.86	[17.80-35.92] mm3 increase	Affymetrix, Illumina [NR] (imputed)	N
1287	chr11	92100355	92100356	rs7129229	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	11q14.3	LOC401705, LOC100130038, LOC390239, FAT3	rs7129229-T	0.151	1E-6	(n-6 PUFA)			Affymetrix [590000]	N
1291	chr11	92651001	92651002	rs7950811	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	11q14.3	intergenic	rs7950811-A	0.071	1E-8		0.16	[NR] unit increase	Illumina [948658]	N
1291	chr11	92651001	92651002	rs7950811	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	11q14.3	intergenic	rs7950811-A	0.071	9E-7		1.65	[1.35-2.00]	Illumina [948658]	N
1292	chr11	92668825	92668826	rs3847554	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	11q14.3	MTNR1B	rs3847554-?	NR	2E-11		0.059	[0.041-0.077] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
1292	chr11	92673827	92673828	rs1387153	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	11q14.3	LOC100128354	rs1387153-C	NR	8E-9	(BP-GLUC)	0.19	[0.13-0.25] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1292	chr11	92673827	92673828	rs1387153	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	11q14.3	LOC100128354	rs1387153-C	NR	2E-9	(HDLC-GLUC)	0.21	[0.15-0.27] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1292	chr11	92673827	92673828	rs1387153	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	11q14.3	MTNR1B	rs1387153-T	0.28	4E-11		0.03	[0.02-0.04] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1292	chr11	92673827	92673828	rs1387153	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	11q14.3	MTNR1B	rs1387153-T		8E-15		1.09	[1.06-1.11]	Affymetrix, Illumina [2426886] (imputed)	N
1292	chr11	92673827	92673828	rs1387153	19060909	Bouatia-Naji N	2008-12-07	Nat Genet	A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk.	Fasting plasma glucose	2,151 European ancestry individuals	16,094 European ancestry individuals	11q14.3	MTNR1B	rs1387153-T	0.29	2E-36		0.07	[0.05-0.08] mmol/l increase	Illumina [308846]	N
1292	chr11	92681012	92681013	rs10830956	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	11q14.3	LOC100128354	rs10830956-C	NR	5E-11	(TG-GLUC)	0.2	[0.14-0.26] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1292	chr11	92690031	92690032	rs7936247	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	11q14.3	MTNR1B	rs7936247-T	0.361	3E-16	(1HPG)	0.222	[NR] unit increase	Illumina [up to 945994] (imputed)	N
1292	chr11	92690031	92690032	rs7936247	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	11q14.3	MTNR1B	rs7936247-T	0.361	2E-12	(FPG)	0.0029	[NR] unit increase	Illumina [up to 945994] (imputed)	N
1292	chr11	92691531	92691532	rs2166706	19651812	Chambers JC	2009-08-03	Diabetes	Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type 2 diabetes among Indian Asians and European Caucasians.	Fasting plasma glucose	698 Asian Indian ancestry cases, 6,776 Asian Indian ancestry controls	4,462 European ancestry controls	11q14.3	MTNR1B	rs2166706-G	0.46	2E-9		0.07	(0.04-0.09) mmol/L increase	Illumina [up to 544390]	N
1292	chr11	92698426	92698427	rs10830962	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	11q14.3	MTNR1B	rs10830962-C		5E-13	(FPG)	0.041	[0.029-0.053] mmol-1 increase	Affymetrix [357789]	N
1292	chr11	92698426	92698427	rs10830962	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	11q14.3	MTNR1B	rs10830962-C		3E-12	(1-hPG)	0.191	[0.14-0.24] mmol-1 increase	Affymetrix [357789]	N
1292	chr11	92698426	92698427	rs10830962	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	11q14.3	MTNR1B	rs10830962-G	0.40	5E-16	(GLU)	0.12	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
1292	chr11	92698426	92698427	rs10830962	22233651	Kwak SH	2012-01-10	Diabetes	A genome-wide association study of gestational diabetes mellitus in Korean women.	Diabetes (gestational)	468 Korean ancestry cases, 1,242 Korean ancestry controls	931 Korean ancestry cases, 783 Korean ancestry controls	11q14.3	MTNR1B	rs10830962-G	0.430	2E-13		1.454	[1.315-1.608]	Affymetrix [2188613] (imputed)	N
1292	chr11	92698426	92698427	rs10830962	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	11q14.3	MTNR1B	rs10830962-C	0.45	1E-16	(FPG)	0.0445	[0.034-0.055] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
1292	chr11	92708709	92708710	rs10830963	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	11q14.3	MTNR1B	rs10830963-?		1E-11	(DI)	3.4	[2.4-4.4] unit decrease	Illumina [693128]	N
1292	chr11	92708709	92708710	rs10830963	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	11q14.3	FAT3, MTNR1B	rs10830963-?		5E-12	(AIRg)	2.76	[1.88-3.64] unit decrease	Illumina [693128]	N
1292	chr11	92708709	92708710	rs10830963	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	11q14.3	MTNR1B	rs10830963-G	0.27	2E-7		1.11	[1.06-1.16]	Affymetrix, Illumina [2500000] (imputed)	N
1292	chr11	92708709	92708710	rs10830963	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q14.3	MTNR1B, LOC642791	rs10830963-G	0.205	4E-8	(GLU )	0.05	[NR] mg/dL increase	Illumina [899892]	N
1292	chr11	92708709	92708710	rs10830963	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	11q14.3	MTNR1B	rs10830963-?	NR	4E-105				Affymetrix, Illumina [~ 2400000] (imputed)	N
1292	chr11	92708709	92708710	rs10830963	22508271	Rasmussen-Torvik LJ	2012-04-16	Genet Epidemiol	Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).	Fasting plasma glucose	2,349 European ancestry individuals, 664 Chinese ancestry individuals, 1,366 African American individuals, 1,171 Hispanic individuals	NA	11q14.3	MTNR1B	rs10830963-G	0.27	1E-12	(Fasting glucose)	1.38	[1.01-1.75] mg/dL increase	Affymetrix [NR] (imputed)	N
1292	chr11	92708709	92708710	rs10830963	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	11q14.3	MTNR1B	rs10830963-?	NR	3E-11	(Glc)	0.14	[0.1-0.18] unit increase	Illumina [~ 7700000] (imputed)	N
1292	chr11	92708709	92708710	rs10830963	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	11q14.3	MTNR1B	rs10830963-G	0.30	6E-175	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1292	chr11	92708709	92708710	rs10830963	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	11q14.3	MTNR1B	rs10830963-G	0.30	3E-43	(HOMA-B)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1292	chr11	92708709	92708710	rs10830963	19060907	Prokopenko I	2008-12-01	Nat Genet	Variants in MTNR1B influence fasting glucose levels.	Fasting plasma glucose	35,812 European ancestry individuals	NA	11q14.3	MTNR1B	rs10830963-G	0.28	3E-50		0.07	[0.06-0.08] mmol/l increase	Affymetrix, Illumina, Perlegen [up to 2557249] (imputed)	N
1292	chr11	92719680	92719681	rs10830964	22754043	Byrne EM	2012-07-01	Sleep	A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.	Insomnia (caffeine-induced)	2,402 European ancestry individuals from 1,470 families	NA	11q14.3	MTNR1B	rs10830964-?	0.88	5E-6		1.61	[1.30-2.00]	Illumina [2380486] (imputed)	N
1292	chr11	92722760	92722761	rs1447352	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	11q14.3	MTNR1B	rs1447352-G	0.42	6E-8	(GLU)	0.05	[0.03-0.06] mmol/l decrease	Illumina [329091]	N
1292	chr11	92784202	92784203	rs7931462	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (parent-of-origin)	1,024 European ancestry individuals	NA	11q21	RPL26P31	rs7931462-G	0.02	2E-9	(KvDMR 10-11-12)			Illumina [515966]	N
1292	chr11	92792099	92792100	rs7120482	23719583	Kerns SL	2013-05-26	Radiother Oncol	Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.	Adverse response to radiation therapy	79 European, African, Asian, and Hispanic ancestry cases, 241 European, African, Asian, and Hispanic ancestry controls	107 European, African, Asian, and Hispanic ancestry cases, 671 European, African, Asian, and Hispanic ancestry controls	11q21	MTNR1B, SLC36A4	rs7120482-?	0.29	5E-8		3.1	[1.7-5.6]	Affymetrix [614453]	N
1293	chr11	92920401	92920402	rs12296063	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q21	SLC36A4	rs12296063-A	0.0030	2E-6	(Folate )	0.03	[NR] nmol/L increase	Illumina [899892]	N
1295	chr11	93093136	93093137	rs12098946	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q21	CCDC67	rs12098946-A	0.0050	4E-6	(Folate )	0.02	[NR] nmol/L increase	Illumina [899892]	N
1295	chr11	93166730	93166731	rs2658782	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	11q21	FLJ25393	rs2658782-?	NR	4E-6	(FEV1/FVC decline in non-asthmatics)	0.1858	[0.11-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
1299	chr11	93691331	93691332	rs2456568	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	11q21	HPRTP4	rs2456568-?	NR	5E-8	(Response)	1.36	[NR]	Illumina [~ 7000000] (imputed)	N
1299	chr11	93704048	93704049	rs11825709	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q21	HEPHL1	rs11825709-G	0.034	4E-6	(Folate )	0.02	[NR] nmol/L increase	Illumina [899892]	N
1303	chr11	94132138	94132139	rs3758785	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy)	394 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	11q21	GPR83	rs3758785-G	NR	2E-6	(EA)			Affymetrix [~ 2300000] (imputed)	N
1304	chr11	94271662	94271663	rs11020821	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy)	394 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	11q21	FUT4	rs11020821-C	NR	4E-6	(EA)			Affymetrix [~ 2300000] (imputed)	N
1304	chr11	94271662	94271663	rs11020821	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	11q21	FUT4	rs11020821-C	NR	9E-7	(EA)	1.4	[0.79-2.01] unit increase	Affymetrix [~ 2300000] (imputed)	N
1304	chr11	94312322	94312323	rs2212361	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Attention deficit hyperactivity disorder symptoms (interaction)	909 European ancestry trios	NA	11q21	PIWIL4	rs2212361-C	0.26	9E-7	(int, MW)	0.97	[NR] unit decrease	Perlegen [429981]	N
1305	chr11	94407735	94407736	rs12789145	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Mood disorder in prion disease	Up to 170 cases	NA	11q21	PIWIL4	rs12789145-?	0.084	8E-6				Illumina [518938]	N
1305	chr11	94407735	94407736	rs12789145	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Mood disorder and prion disease	Up to 170 cases, 5,200 controls	NA	11q21	PIWIL4	rs12789145-?	0.084	4E-6				Illumina [518938]	N
1307	chr11	94667963	94667964	rs10831284	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	11q21	AMOTL1, CWC15, JMJD2D	rs10831284-G	0.13	2E-6				Perlegen [378332]	N
1311	chr11	95200426	95200427	rs11021169	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	11q21	5S_rRNA	rs11021169-G	0.92	8E-6		1.3	[NR]	Illumina [7659573] (imputed)	N
1312	chr11	95311421	95311422	rs4409785	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11q21	CEP57	rs4409785-C	0.17	4E-9	(EA)	1.12	[1.08-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1312	chr11	95311421	95311422	rs4409785	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11q21	CEP57	rs4409785-C	0.15	1E-11		1.12	[1.09-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1312	chr11	95311421	95311422	rs4409785	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	11q21	TYR	rs4409785-C	0.19	2E-13		1.34	[NR]	Illumina [495821]	N
1312	chr11	95311421	95311422	rs4409785	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	11q21	intergenic	rs4409785-G	NR	6E-7		1.1	[1.09-1.12]	Illumina [465434]	N
1313	chr11	95422866	95422867	rs1939875	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	11q21	NR	rs1939875-T	0.26	3E-6		1.54	[1.22-1.93]	Illumina [~ 550000]	N
1316	chr11	95866699	95866700	rs10765792	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	11q21	intergenic	rs10765792-?	0.11	8E-13	(Recessive)	1.54	[1.37-1.72]	Affymetrix [319222]	N
1316	chr11	95931484	95931485	rs479825	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		11q21	MAML2	rs479825-?	NR	6E-6		1.64	[NR]	Illumina [up to 810372] (imputed)	N
1317	chr11	95992128	95992129	rs11021499	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	11q21	MAML2	rs11021499-A	NR	2E-6	(Alcohol intake)	0.39	[NR] unit decrease	Affymetrix [706791]	N
1317	chr11	95995447	95995448	rs11021504	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	11q21	MAML2	rs11021504-A	0.51	8E-9		0.083	[0.054-0.112] unit increase	Affymetrix [1532051] (imputed)	N
1317	chr11	96000099	96000100	rs7115578	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	11q21	MAML2	rs7115578-A	NR	8E-6		1.86	[1.23-2.79]	Affymetrix [476796]	N
1317	chr11	96023213	96023214	rs485842	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		11q21	MAML2	rs485842-A	0.261	2E-6		0.055	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1317	chr11	96023426	96023427	rs483905	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q21	NR	rs483905-A	0.289	3E-10	(EA)	1.0887091	[1.06-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1317	chr11	96023426	96023427	rs483905	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q21	NR	rs483905-A	0.289	7E-8	(EA)	1.0595956	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1317	chr11	96023426	96023427	rs483905	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	11q21	MAML2, JRKL	rs483905-A	0.292	1E-8		1.056	[1.017-1.096]	Affymetrix, Illumina [1230000] (imputed)	N
1318	chr11	96108427	96108428	rs7118648	23793441	Davis MF	2013-06-21	Hum Genet	Parkinson disease loci in the mid-western Amish.	Parkinson's disease	31 Amish cases, 767 Amish controls	NA	11q21	CCDC82	rs7118648-G	0.03	2E-7				Affymetrix [622812]	N
1322	chr11	96667408	96667409	rs1155410	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	11q21	intergenic	rs1155410-?		2E-6				NR [~ 3000000] (imputed)	N
1324	chr11	96959524	96959525	rs11224899	22648509	Wang KS	2012-05-31	J Mol Neurosci	PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.	Formal thought disorder in schizophrenia	835 European ancestry cases, 2,694 European ancestry controls	NA	11q21	JRKL	rs11224899-T	0.04	2E-6		1.8989	[NR]	Affymetrix [729454]	N
1329	chr11	97574983	97574984	rs11212364	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	11q22.1	AP005434.1	rs11212364-A	0.03	3E-6	(2-choice RT)	0.26	[0.16-0.36] unit decrease	Illumina [~ 610000]	N
1330	chr11	97682563	97682564	rs2405657	19734901	van Es MA	2009-09-06	Nat Genet	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	2,323 European ancestry cases, 9,013 European ancestry controls	2,532 European ancestry cases, 5,940 European ancestry controls	11q22.1	NR	rs2405657-?	0.66	3E-6		1.19	[NR]	Illumina [292768]	N
1333	chr11	98125403	98125404	rs2509843	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	11q22.1	CNTN5	rs2509843-?	NR	2E-7		1.2684	[NR]	Affymetrix [722112]	N
1336	chr11	98466267	98466268	rs4237591	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	11q22.1	intergenic	rs4237591-G	0.35	2E-6		0.33	[NR] unit decrease	Illumina [324623]	N
1338	chr11	98723215	98723216	rs11217223	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q22.1	CNTN5	rs11217223-G	0.09	6E-6	(Moderate&vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1338	chr11	98723215	98723216	rs11217223	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q22.1	CNTN5	rs11217223-G	0.09	1E-6	(Moderate activity )	0.04	[NR] %awake time increase	Illumina [899892]	N
1344	chr11	99493172	99493173	rs10501920	17903304	Larson MG	2007-09-19	BMC Med Genet	Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.	Atrial fibrillation	151 cases and 1,190 controls from 310 families	NA	11q22.1	CNTN5	rs10501920-?	NR	9E-6				Affymetrix [70897]	N
1344	chr11	99585735	99585736	rs952700	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Volumetric brain MRI	705 European ancestry individuals	NA	11q22.1	CNTN5	rs952700-?	NR	6E-6	(AFBV)			Affymetrix [70897]	N
1348	chr11	100043419	100043420	rs12803066	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		11q22.1	CNTN5	rs12803066-?	.518	4E-6			[NR]	Affymetrix, Illumina [152234]	N
1349	chr11	100139170	100139171	rs117557854	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	11q22.1	CNTN5	rs117557854-A	0.02	2E-6		2.0833335	[1.79-2.38]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
1349	chr11	100173536	100173537	rs11223581	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	11q22.1	CNTN5	rs11223581-G		9E-9	(AA)			Illumina [NR]	N
1351	chr11	100406639	100406640	rs12800752	23667675	Tanikawa C	2013-05-07	PLoS One	Genome wide association study of age at menarche in the Japanese population.	Menarche (age at onset)	15,495 Japanese ancestry females	NA	11q22.1	ARHGAP42	rs12800752-T	0.80147	3E-6		0.0946	[0.055-0.134] year increase	Illumina [2310762] (imputed)	N
1351	chr11	100421471	100421472	rs7952067	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	11q22.1	NR	rs7952067-C	0.0738	1E-6	(Trans/trans-18:2, EA)	0.0052	[0.003-0.0074] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1352	chr11	100593537	100593538	rs633185	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	11q22.1	TMEM133, FLJ32810	rs633185-G	0.28	1E-17		0.565	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1352	chr11	100593537	100593538	rs633185	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	11q22.1	TMEM133, FLJ32810	rs633185-G	0.28	5E-11		0.07	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1352	chr11	100593537	100593538	rs633185	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	11q22.1	TMEM133, FLJ32810	rs633185-G	0.28	2E-15		0.328	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1352	chr11	100593537	100593538	rs633185	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	11q22.1	TMEM133, FLJ32810	rs633185-G	0.32	7E-10	(Mean Arterial Pressure)	0.325	[0.22-0.43] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1358	chr11	101436720	101436721	rs10895140	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11q22.1	TRPC6, PGR	rs10895140-G	0.66	7E-14		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1361	chr11	101771432	101771433	rs11225055	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	11q22.1	ANGPTL5, KIAA1377	rs11225055-C	NR	1E-6	(LJC)	3.49	[2.08-4.90] unit decrease	Illumina [586062]	N
1363	chr11	102009279	102009280	rs11225148	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	11q22.1	YAP1	rs11225148-G	0.06	2E-6	(Single Height)	0.1	[0.051-0.149] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1363	chr11	102070638	102070639	rs1894116	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	11q22.1	YAP1	rs1894116-G	0.194	1E-22		1.27	[NR]	Affymetrix [NR] (imputed)	N
1364	chr11	102155473	102155474	rs2852894	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Whole-brain volume (Alzheimer's disease interaction)	434 European ancestry mild cognitive impairment cases, 245 European ancestry Alzheimer's disease cases, 284 European ancestry controls	NA	11q22.1	YAP1, BIRC3	rs2852894-?	NR	1E-6		0.016	[NR] unit decrease	Illumina [478011]	N
1365	chr11	102280750	102280751	rs11225247	25881214	Shah AA	2015-02-27	Heart Surg Forum	Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.	Vein graft stenosis in coronary artery bypass grafting	361 European ancestry cases, 160 European ancestry controls	NA	11q22.2	TMEM123	rs11225247-C	0.08	8E-6				Illumina [905781]	N
1366	chr11	102401660	102401661	rs11568818	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	11q22.2	MMP8, BIRC2, MMP10, MMP20, MMP27, MMP7, YAP1, BIRC3, TMEM123	rs11568818-A	0.56	2E-11		1.1	[1.06-1.14]	Illumina [~ 2600000] (imputed)	N
1367	chr11	102595134	102595135	rs1939012	25087078	Anney RJ	2014-07-30	Lancet Neurol	Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.	Epilepsy	405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls	NA	11q22.2	MMP8	rs1939012-T	0.4	2E-8	(GGE)	1.12	[1.07-1.17]	Affymetrix, Illumina [NR] (imputed)	N
1367	chr11	102628051	102628052	rs7924357	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		11q22.2	MMP10	rs7924357-?		1E-6	(Cluxel size)			Illumina [208975]	N
1368	chr11	102691481	102691482	rs11225434	20031604	Cheng YC	2009-08-01	Circ Cardiovasc Genet	Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels.	Matrix metalloproteinase levels	778 Old Order Amish individuals	NA	11q22.2	MMP-1	rs11225434-C	0.38	9E-29		0.39	[NR] unit increase	Affymetrix [338079]	N
1368	chr11	102695107	102695108	rs495366	20031604	Cheng YC	2009-08-01	Circ Cardiovasc Genet	Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels.	Matrix metalloproteinase levels	778 Old Order Amish individuals	NA	11q22.2	MMP	rs495366-A	0.36	6E-34		0.44	[NR] unit decrease	Affymetrix [338079]	N
1368	chr11	102716979	102716980	rs573521	25340798	Kauwe JS	2014-10-23	PLoS Genet	Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.	Cerebrospinal fluid levels of Alzheimer's disease-related proteins	574 individuals	NA	11q22.2	MMP3, MMP12, WTAPP1, MMP13, DCUN1D5	rs573521-A	NR	2E-44	(Matrix metalloproteinase-3)			Illumina [5815690] (imputed)	N
1368	chr11	102720944	102720945	rs626750	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	11q22.2	MMP12	rs626750-G	NR	7E-7	(Perc15, Cases)			Illumina [7600000] (imputed)	N
1368	chr11	102720944	102720945	rs626750	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	11q22.2	MMP12	rs626750-G	NR	6E-6	(Perc15, All)			Illumina [7600000] (imputed)	N
1368	chr11	102720944	102720945	rs626750	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	11q22.2	MMP12	rs626750-G	NR	4E-7	(%LAA-950, Cases)			Illumina [7600000] (imputed)	N
1368	chr11	102720944	102720945	rs626750	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (severe)	3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls	2,651 cases and their relatives	11q22.2	MMP12	rs626750-G	0.83	3E-9				Illumina [up to 701491] (imputed)	N
1368	chr11	102729173	102729174	rs654600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	11q22.2	MMP12	rs654600-A	NR	5E-7	(Perc15, Cases)	1.7	[-1.436-4.836] unit decrease	Illumina [7600000] (imputed)	N
1368	chr11	102733162	102733163	rs12808148	22832961	Kamboh MI	2012-05-15	Transl Psychiatry	Genome-wide association study of Alzheimer's disease.	Alzheimer's disease	1,291 European ancestry cases, 938 European ancestry controls	509 European ancestry cases, 753 European ancestry controls, 2,218 cases, 2,583 controls	11q22.2	MMP3, MMP12	rs12808148-?	NR	1E-6		1.23	[NR]	Illumina [2543888] (imputed)	N
1368	chr11	102738074	102738075	rs17368582	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	11q22.2	MMP12	rs17368582-G	0.88	7E-9	(Moderate Centrilobular, EA)	0.02	[0.012-0.028] unit increase	Illumina [6942916] (imputed)	N
1368	chr11	102738074	102738075	rs17368582	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	11q22.2	MMP12	rs17368582-G	0.88	3E-9	(Moderate Centrilobular)	0.02	[0.012-0.028] unit increase	Illumina [6942916] (imputed)	N
1368	chr11	102742760	102742761	rs17368659	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	11q22.2	MMP12	rs17368659-G	0.88	2E-7	(normal, EA)	0.04	[0.026-0.054] unit decrease	Illumina [6942916] (imputed)	N
1368	chr11	102742760	102742761	rs17368659	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	11q22.2	MMP12	rs17368659-G	0.88	1E-8	(normal)	0.04	[0.026-0.054] unit decrease	Illumina [6942916] (imputed)	N
1368	chr11	102744086	102744087	rs608194	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	11q22.2	MMP12	rs608194-T	NR	1E-7	(%LAA-950, Cases)	0.05	[-0.09504-0.19504] unit increase	Illumina [7600000] (imputed)	N
1369	chr11	102887228	102887229	rs74380195	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11q22.3	MMP13, DCUN1D5	rs74380195-G	0.05	10E-10		4.02	[2.49-6.48]	Illumina [1556551]	N
1370	chr11	102947464	102947465	rs7947821	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	11q22.3	DCUN1D5	rs7947821-T	0.75	2E-6		7.1429	[NR]	Affymetrix [up to 4467279] (imputed)	N
1370	chr11	102980593	102980594	rs12283022	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	11q22.3	intergenic	rs12283022-G	0.75	2E-6		7.1429	[NR]	Affymetrix [up to 4467279] (imputed)	N
1370	chr11	103016192	103016193	rs11225569	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11q22.3	DYNC2H1, DCUN1D5, PDGFD	rs11225569-A	0.06	2E-6		3.06	[1.89-4.95]	Illumina [1556551]	N
1371	chr11	103127064	103127065	rs12294076	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	11q22.3	DYNC2H1	rs12294076-T	0.83	1E-7		6.25	[NR]	Affymetrix [up to 4467279] (imputed)	N
1372	chr11	103209983	103209984	rs313426	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	11q22.3	DYNC2H1, DCUN1D5, PDGFD	rs313426-A	0.31	2E-6		0.018	[0.010-0.026] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
1374	chr11	103418157	103418158	rs716274	21118971	Wu C	2010-11-30	Cancer Res	Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients.	Small-cell lung cancer (survival)	245 Han Chinese ancestry cases	305 Han Chinese ancestry cases	11q22.3	DYNC2H1	rs716274-G	NR	9E-8	(AG genotype)	1.83	[1.47-2.29]	Affymetrix [265996]	N
1374	chr11	103525753	103525754	rs7118412	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	11q22.3	intergenic	rs7118412-A	0.42	9E-6		0.09	[0.049-0.131] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
1374	chr11	103526023	103526024	rs7103004	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	11q22.3	intergenic	rs7103004-C	0.42	9E-6		0.09	[0.049-0.131] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
1374	chr11	103529631	103529632	rs12805875	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	11q22.3	intergenic	rs12805875-A	0.42	9E-6		0.09	[0.049-0.131] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
1374	chr11	103530365	103530366	rs4554859	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	11q22.3	intergenic	rs4554859-G	0.42	9E-6		0.09	[0.049-0.131] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
1375	chr11	103589093	103589094	rs1917445	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	11q22.3	PDGFD	rs1917445-?	NR	6E-7				Illumina [874956]	N
1375	chr11	103660566	103660567	rs974819	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	11q22.3	PDGFD	rs974819-T	0.32	2E-9		1.07	[1.04-1.09]	Illumina [574919]	N
1376	chr11	103808151	103808152	rs10895547	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	11q22.3	PDGFD	rs10895547-T	0.23	3E-6		0.0747	[0.043-0.106] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1378	chr11	104041610	104041611	rs7930114	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11q22.3	NR	rs7930114-?	NR	2E-6		0.4242	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1381	chr11	104334238	104334239	rs11226373	20031604	Cheng YC	2009-08-01	Circ Cardiovasc Genet	Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels.	Matrix metalloproteinase levels	778 Old Order Amish individuals	NA	11q22.3	MMP-3, MMP-1	rs11226373-G	0.15	2E-18		0.44	[NR] unit increase	Affymetrix [338079]	N
1383	chr11	104677869	104677870	rs1144403	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q22.3	NR	rs1144403-A	NR	8E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1385	chr11	104972517	104972518	rs11226613	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	11q22.3	CASP1P1, CARD17	rs11226613-T	0.17	5E-6		1.4286	[0.6-0.81]	Illumina [1795103]	N
1388	chr11	105277569	105277570	rs117325735	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	11q22.3	NR	rs117325735-?		2E-7	(PCB156)	1.29	[0.8-1.78] unit increase	Illumina [8736858] (imputed)	N
1390	chr11	105513060	105513061	rs3170	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11q22.3	NR	rs3170-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1390	chr11	105556597	105556598	rs11601239	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	11q22.3	GRIA4	rs11601239-C	0.46	6E-9		0.095	[0.064-0.126] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1396	chr11	106330161	106330162	rs10895959	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	11q22.3	intergenic	rs10895959-?	NR	3E-6	(binary)			Perlegen [429981]	N
1397	chr11	106490781	106490782	rs61903125	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q22.3	NR	rs61903125-G	NR	8E-6		1.098901	[NR]	Illumina [7158791] (imputed)	N
1397	chr11	106496037	106496038	rs1791581	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	11q22.3	GUCY1A2	rs1791581-A	0.17	8E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1397	chr11	106523223	106523224	rs12364992	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q22.3	GUCY1A2	rs12364992-G	0.176	6E-6	(Hip circumference change )	0.03	[NR] cm/y increase	Illumina [899892]	N
1397	chr11	106543464	106543465	rs17105932	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	11q22.3	GUCY1A2	rs17105932-?		7E-6	(AA, case-control analysis)	2.22	[NR]	Affymetrix [up to 730090]	N
1403	chr11	107347276	107347277	rs11212260	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q22.3	NR	rs11212260-C	0.0281428517133956	9E-6	(IGP53)	0.4437	[0.25-0.64] unit increase	Illumina [~ 2500000] (imputed)	N
1403	chr11	107347276	107347277	rs11212260	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q22.3	NR	rs11212260-C	0.0281428517133956	7E-6	(IGP57)	0.4507	[0.25-0.65] unit increase	Illumina [~ 2500000] (imputed)	N
1403	chr11	107347276	107347277	rs11212260	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q22.3	NR	rs11212260-C	0.0281428517133956	5E-6	(IGP17)	0.455	[0.26-0.65] unit increase	Illumina [~ 2500000] (imputed)	N
1404	chr11	107354311	107354312	rs7937106	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Large artery stroke	2,167 cases, 49,159 controls	NA	11q22.3	ALKBH8	rs7937106-C		6E-8		1.69	[1.40-2.04]	Affymetrix, Illumina [~ 2400000] (imputed)	N
1405	chr11	107481517	107481518	rs10431058	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	11q22.3	NR	rs10431058-?	NR	8E-7	(optimism)			Illumina [535076]	N
1407	chr11	107756550	107756551	rs2186903	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	11q22.3	SLC35F2, RAB39	rs2186903-A		4E-6	(Modelling analysis)	1.07	[1.04-1.11]	NR [1252901] (imputed)	N
1410	chr11	108175461	108175462	rs1801516	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	11q22.3	ATM	rs1801516-?	0.87	3E-9		1.19	[1.12-1.27]	Illumina [594997]	N
1411	chr11	108283160	108283161	rs11212617	21845381	Florez JC	2011-08-16	Curr Diab Rep	Does metformin work for everyone? A genome-wide association study for metformin response.	Response to metformin	1,014 European ancestry individuals, 10 individuals	2,896 European ancestry individuals	11q22.3	ATM	rs11212617-A	0.44	3E-9				Affymetrix [705125]	N
1411	chr11	108283160	108283161	rs11212617	21186350	Zhou K	2010-12-26	Nat Genet	Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.	Response to metformin in type 2 diabetes (glycemic)	1,024 European ancestry cases	2,896 European ancestry cases	11q22.3	ATM, C111orf65	rs11212617-C	0.44	3E-9		1.35	[1.22-1.49]	Affymetrix [705125]	N
1412	chr11	108498884	108498885	rs10160242	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	11q22.3	intergenic	rs10160242-?		4E-6	(SI)	0.41	[0.19-0.63] unit increase	Illumina [693128]	N
1415	chr11	108873118	108873119	rs10890920	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	11q22.3	SKCG-1	rs10890920-A	0.57	3E-6	(Sulfonylurea Hypoglycemic agents)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1415	chr11	108893366	108893367	rs7101378	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q22.3	NR	rs7101378-G	0.531881765256125	7E-6	(IGP29)	0.1398	[0.079-0.201] unit increase	Illumina [~ 2500000] (imputed)	N
1419	chr11	109378070	109378071	rs12421382	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q22.3	NR	rs12421382-C	NR	4E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1419	chr11	109378070	109378071	rs12421382	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	11q22.3	C11orf87	rs12421382-C	0.666	4E-8		1.0626993	[1.04-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
1423	chr11	109932068	109932069	rs17110679	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11q22.3	NR	rs17110679-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
1424	chr11	109995943	109995944	rs746463	17903301	Vasan RS	2007-09-19	BMC Med Genet	Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.	Exercise treadmill test traits	Up to 1,238 European ancestry individuals	NA	11q22.3	intergenic	rs746463-?	NR	5E-6	(P3MRSBP)			Affymetrix [70897]	N
1426	chr11	110243921	110243922	rs7945071	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	11q22.3	RDX, FDX1	rs7945071-T	0.172	7E-6	(RAVLT)	3.012	[1.71-4.31] unit increase	Affymetrix [> 371951] (imputed)	N
1427	chr11	110395857	110395858	rs12785341	22044751	Foster MC	2011-11-01	BMC Med Genet	Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.	Renal sinus fat	2,809 European ancestry individuals	NA	11q22.3	ARHGAP20	rs12785341-C	0.09	8E-6		0.29	[0.16-0.42] unit increase	Affymetrix [~ 2500000] (imputed)	N
1428	chr11	110499252	110499253	rs326946	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		11q23.1	ARHGAP20	rs326946-?	0.17	7E-7		0.16	unit decrease	Illumina [NR] (imputed)	N
1429	chr11	110741013	110741014	rs1469170	23717212	Band G	2013-05-23	PLoS Genet	Imputation-based meta-analysis of severe malaria in three African populations.	Malaria	5,425 African ancestry cases, 6,891 African ancestry controls	NA	11q23.1	NR	rs1469170-A	NR	8E-8		1.2	[1.12-1.29]	Illumina [1300000] (imputed)	N
1431	chr11	110913239	110913240	rs4938174	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	11q23.1	ARHGAP20, POU2AF1	rs4938174-A	0.31	4E-9		0.06	[0.04-0.08] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
1431	chr11	110995970	110995971	rs321358	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q23.1	C11orf53	rs321358-G	0.155	6E-6	(EA, men)	0.026	[0.014-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1433	chr11	111171708	111171709	rs3802842	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	11q23.1	C11orf93	rs3802842-C	0.28	1E-10		1.1235955	[1.09-1.16]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1433	chr11	111171708	111171709	rs3802842	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	11q23.1	FLJ45803	rs3802842-C	0.27	2E-6		1.13	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
1433	chr11	111171708	111171709	rs3802842	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	11q23.1	intergenic	rs3802842-C	0.38	3E-7	(East Asian)	1.09	[1.05-1.12]	Affymetrix, Illumina [2400000] (imputed)	N
1433	chr11	111171708	111171709	rs3802842	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	11q23.1	intergenic	rs3802842-?	0.29	4E-7		1.11	[1.06-1.15]	Affymetrix, Illumina [2708280] (imputed)	N
1433	chr11	111171708	111171709	rs3802842	21761138	Peters U	2011-07-15	Hum Genet	Meta-analysis of new genome-wide association studies of colorectal cancer risk.	Colorectal cancer	2,906 European ancestry cases, 3,416 European ancestry controls	8,161 European ancestry cases, 9,101 European ancestry controls	11q23.1	LOC120376	rs3802842-?	0.28	4E-7		1.14	[1.08-1.20]	Illumina [378739]	N
1433	chr11	111171708	111171709	rs3802842	18372901	Tenesa A	2008-03-30	Nat Genet	Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.	Colorectal cancer	981 European ancestry cases, 1,002 European ancestry controls	10,287 European ancestry cases, 10,401 European ancestry controls, 4,400 Japanese ancestry cases, 3,179 Japanese ancestry controls, 1,789 cases, 1,771 controls	11q23.1	intergenic	rs3802842-C	0.43	6E-10		1.11	[1.08-1.15]	Illumina [541628]	N
1433	chr11	111275132	111275133	rs4938534	23000144	Nakamura M	2012-09-18	Am J Hum Genet	Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.	Primary biliary cirrhosis	487 Japanese ancestry cases, 476 Japanese ancestry controls	787 Japanese ancestry cases, 615 Japanese ancestry controls	11q23.1	POU2AF1	rs4938534-A	0.44	2E-8		1.39	[1.24-1.56]	Affymetrix [421245]	N
1435	chr11	111411607	111411608	rs11213935	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q23.1	LAYN	rs11213935-A	0.078	4E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1439	chr11	112023826	112023827	rs1834481	20150558	He M	2010-02-11	Arterioscler Thromb Vasc Biol	Genome-wide association study identifies variants at the IL18-BCO2 locus associated with interleukin-18 levels.	Interleukin-18 levels	1,523 European ancestry female individuals	435 European ancestry female individuals	11q23.1	BCO2	rs1834481-G	0.24	1E-8				Affymetrix [704409]	N
1439	chr11	112051168	112051169	rs2115763	20150558	He M	2010-02-11	Arterioscler Thromb Vasc Biol	Genome-wide association study identifies variants at the IL18-BCO2 locus associated with interleukin-18 levels.	Interleukin-18 levels	1,523 European ancestry female individuals	435 European ancestry female individuals	11q23.1	BCO2	rs2115763-T	0.33	4E-9				Affymetrix [704409]	N
1439	chr11	112064430	112064431	rs7105056	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	11q23.1	BCO2	rs7105056-A		1E-8	(EA)			Illumina [NR]	N
1440	chr11	112085315	112085316	rs2250417	24182552	Matteini AM	2013-10-29	Cytokine	Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.	Inflammatory biomarkers	4,443 European ancestry older adult individuals	NA	11q23.1	BCO2, IL18, TEX12	rs2250417-T	0.48	2E-32	(IL18)	0.1	[0.08-0.12] unit increase	Illumina [2543887] (imputed)	N
1440	chr11	112085315	112085316	rs2250417	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	11q23.1	IL18	rs2250417-?	0.44	7E-13	(IL18)			Illumina [496032]	N
1441	chr11	112263502	112263503	rs10891354	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q23.1	NR	rs10891354-C	NR	8E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1442	chr11	112456220	112456221	rs7105881	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	11q23.1	intergenic	rs7105881-?	0.367	3E-7	(risperidone-hip circumference)			Affymetrix [492900]	N
1444	chr11	112642631	112642632	rs7113211	25226531	St Pourcain B	2014-09-16	Nat Commun	Common variation near ROBO2 is associated with expressive vocabulary in infancy.	Expressive vocabulary in infants	6,851 European ancestry 15-18-month-old children, 6,299 European ancestry 24-30-month-old children	2,038 European ancestry 15-18-month-old children, 4,520 European ancestry 24-30-month-old children	11q23.2	NR	rs7113211-A	0.5	9E-6	(15-18 months)	0.073	[0.04-0.106] unit decrease	Illumina [2449665] (imputed)	N
1446	chr11	112968650	112968651	rs1816537	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q23.2	NCAM1	rs1816537-C	0.562	2E-7	(EA)	0.02	[0.012-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1446	chr11	112968650	112968651	rs1816537	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q23.2	NCAM1	rs1816537-C	0.562	1E-7		0.02	[0.012-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1447	chr11	112991617	112991618	rs1436109	21212386	Arnett DK	2011-01-06	Circ Res	Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families.	Cardiac muscle measurement	1,258 Black individuals	989 Black individuals, 1,316 European ancestry individuals	11q23.2	NCAM1	rs1436109-?	NR	9E-7	(Intraventricular septal thickness)			Affymetrix [872242]	N
1447	chr11	112991617	112991618	rs1436109	21212386	Arnett DK	2011-01-06	Circ Res	Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families.	Cardiac muscle measurement	1,258 Black individuals	989 Black individuals, 1,316 European ancestry individuals	11q23.2	NCAM1	rs1436109-?	NR	4E-9	(Relative wall thickness)			Affymetrix [872242]	N
1447	chr11	112991617	112991618	rs1436109	21212386	Arnett DK	2011-01-06	Circ Res	Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families.	Cardiac muscle measurement	1,258 Black individuals	989 Black individuals, 1,316 European ancestry individuals	11q23.2	NCAM1	rs1436109-?	NR	3E-7	(Posterior wall thickness)			Affymetrix [872242]	N
1447	chr11	113106454	113106455	rs12279261	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Entorhinal cortical thickness	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	11q23.2	NCAM1	rs12279261-?	NR	9E-6		0.112	[NR] unit decrease	Illumina [478011]	N
1447	chr11	113113151	113113152	rs61902539	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11q23.2	NR	rs61902539-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1448	chr11	113120211	113120212	rs3781878	24964207	Mullins N	2014-06-25	Am J Med Genet B Neuropsychiatr Genet	Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.	Suicide attempts in depression or bipolar disorder	426 European ancestry cases, 2,844 European ancestry controls	NA	11q23.2	NCAM1	rs3781878-?	0.728	2E-6		1.54	[1.2-2.08]	Illumina [up to 503016]	N
1448	chr11	113215922	113215923	rs4987094	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q23.2	NR	rs4987094-A	NR	6E-7		1.09	[NR]	Illumina [7158791] (imputed)	N
1449	chr11	113286489	113286490	rs2734839	25869804	Ibrahim-Verbaas CA	2015-04-14	Mol Psychiatry	GWAS for executive function and processing speed suggests involvement of the CADM2 gene.	Information processing speed	Up to 30,807 European ancestry individuals, up to 1,267 Erasmus Rucphen Family individuals, up to 535 Korkulan individuals, up to 417 Orcadian individuals, up to 311 Vis individuals	Up to 8,436 European ancestry individuals, up to 1,444 African American individuals	11q23.2	DRD2	rs2734839-T	0.61	9E-7	(LDST/DSST - age, sex and education adjusted)	4.91	[NR] unit increase	Affymetrix, Illumina [up to 2357391] (imputed)	N
1449	chr11	113296618	113296619	rs1079596	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	11q23.2	DRD2	rs1079596-?	NR	3E-6	(ANP6)			Affymetrix [70897]	N
1449	chr11	113309868	113309869	rs11214606	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	11q23.2	DRD2	rs11214606-?	0.03	5E-7	(olanzapine)			Affymetrix [492900]	N
1450	chr11	113392993	113392994	rs2514218	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q23.2	NR	rs2514218-C	NR	2E-10		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1450	chr11	113392993	113392994	rs2514218	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	11q23.2	DRD2	rs2514218-C	0.686	3E-11		1.0787487	[1.05-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
1450	chr11	113424557	113424558	rs7952106	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	11q23.2	DRD2, MIR4301	rs7952106-G	0.23	9E-7		1.54	[0.93-2.15] mmHg increase	Illumina [1019297] (imputed)	N
1451	chr11	113539079	113539080	rs3934007	25338677	Kariuki SN	2014-10-23	Genes Immun	Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.	Interferon alpha levels in systemic lupus erythematosus	88 European ancestry high interferon alpha cases, 322 European ancestry low interferon alpha cases	715 European ancestry cases, 450 African American cases	11q23.2	TMPRSS5, DRD2	rs3934007-T	NR	3E-6	(EA)	1.55	[1.19-2.00]	Illumina [291943]	N
1453	chr11	113807180	113807181	rs11214775	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	11q23.2	HTR3B	rs11214775-G	0.71	5E-8		1.07	[1.04-1.09]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1453	chr11	113807180	113807181	rs11214775	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	11q23.2	HTR3B	rs11214775-G	0.71	3E-8	(EA)	1.08	[1.05-1.11]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1453	chr11	113820027	113820028	rs118162387	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q23.2	NR	rs118162387-G	NR	9E-6		1.1627907	[NR]	Illumina [7158791] (imputed)	N
1454	chr11	113942150	113942151	rs1672691	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11q23.2	ZBTB16, HTR3A, NNMT	rs1672691-A	0.2	2E-7		2.5	[1.76-3.55]	Illumina [1556551]	N
1454	chr11	113961761	113961762	rs17116334	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	11q23.2	ZBTB16	rs17116334-T	0.16	9E-6	(int, MC)	1.3	[NR] unit increase	Perlegen [429901]	N
1456	chr11	114191015	114191016	rs2847476	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Volumetric brain MRI	705 European ancestry individuals	NA	11q23.2	NNMT	rs2847476-?	NR	3E-6	(ALLV)			Affymetrix [70897]	N
1456	chr11	114231254	114231255	rs11214966	21804549	Torgerson DG	2011-07-31	Nat Genet	Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.	Asthma	2,088 European ancestry cases, 1,612 African American and African Caribbean cases, 1,688 Hispanic cases	2,727 European ancestry cases, 2,147 African American and African Caribbean cases, 2,299 Hispanic cases	11q23.2	C11orf71	rs11214966-?	NR	6E-7				Affymetrix, Illumina [> 2000000] (imputed)	N
1457	chr11	114386829	114386830	rs561722	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q23.2	NR	rs561722-G	0.66	4E-20	(EA)	1.1328671		Affymetrix, Illumina [~ 9000000] (imputed)	N
1457	chr11	114386829	114386830	rs561722	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q23.2	NR	rs561722-G	0.66	2E-9	(EA)	1.0666672		Affymetrix, Illumina [~ 9000000] (imputed)	N
1457	chr11	114386829	114386830	rs561722	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	11q23.2	NXPE1, NXPE4	rs561722-C	0.663	5E-17		1.12	[1.079-1.163]	Affymetrix, Illumina [1230000] (imputed)	N
1457	chr11	114387101	114387102	rs4466877	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q23.2	NR	rs4466877-G	0.880799535011136	9E-7	(IGP32)	0.2413	[0.15-0.34] unit increase	Illumina [~ 2500000] (imputed)	N
1457	chr11	114390105	114390106	rs9326244	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q23.2	NR	rs9326244-C	0.878929753455194	5E-7	(IGP35)	0.237	[0.14-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
1458	chr11	114430409	114430410	rs661054	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	11q23.2	NR	rs661054-?	NR	3E-20	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1458	chr11	114431955	114431956	rs678170	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	11q23.2	intergenic	rs678170-A	0.66	5E-14		1.09	[1.05-1.14]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1459	chr11	114621468	114621469	rs1712790	17903292	Hwang SJ	2007-09-19	BMC Med Genet	A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.	Urinary albumin excretion	822 individuals	NA	11q23.3	FAM55B	rs1712790-?	NR	2E-6				Affymetrix [70897]	N
1462	chr11	115022403	115022404	rs12286929	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q23.3	CADM1	rs12286929-G	0.524	9E-8	(EA, women)	0.021	[0.013-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1462	chr11	115022403	115022404	rs12286929	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q23.3	CADM1	rs12286929-G	0.523	5E-13		0.021	[0.015-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1462	chr11	115022403	115022404	rs12286929	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q23.3	CADM1	rs12286929-G	0.523	1E-12	(EA)	0.022	[0.016-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1462	chr11	115022403	115022404	rs12286929	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	11q23.3	CADM1	rs12286929-G	0.521	4E-8	(EA, men)	0.022	[0.014-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1462	chr11	115052634	115052635	rs11215400	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11q23.3	CADM1	rs11215400-C	0.27	7E-11		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1463	chr11	115091118	115091119	rs4936323	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	11q23.3	NR	rs4936323-?		4E-6				Affymetrix, Illumina [1348798]	N
1463	chr11	115140552	115140553	rs7950069	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	11q23.3	NR	rs7950069-?	NR	5E-6	(Meta-All, NSCL/P)			NR [497084]	N
1464	chr11	115301870	115301871	rs220836	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q23.3	CADM1	rs220836-G	0.16	6E-6	(AST )	0.03	[NR] U/L increase	Illumina [899892]	N
1465	chr11	115398745	115398746	rs7483296	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	11q23.3	intergenic	rs7483296-T		5E-7		0.3152	unit increase	Illumina [5767231] (imputed)	N
1465	chr11	115398745	115398746	rs7483296	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	11q23.3	intergenic	rs7483296-T		8E-7		0.2927	unit increase	Illumina [5767231] (imputed)	N
1465	chr11	115463745	115463746	rs11215609	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q23.3	NR	rs11215609-T	NR	9E-6		1.26	[NR]	Illumina [7158791] (imputed)	N
1467	chr11	115711932	115711933	rs66785688	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	11q23.3	intergenic	rs66785688-G	0.0261	5E-6		3.9	[2.08-7.31]	Illumina [1556551]	N
1468	chr11	115764044	115764045	rs638882	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	11q23.3	intergenic	rs638882-?	NR	4E-6	(NeckZ1rf)			Affymetrix [70897]	N
1469	chr11	115943252	115943253	rs1426391	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	Hypertriglyceridemia	1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls	11q23.3	intergenic	rs1426391-?	.7	7E-6		1.25	[1.15-1.35]	Illumina [1361436] (imputed)	N
1472	chr11	116298366	116298367	rs490592	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	11q23.3	intergenic	rs490592-?	0.21	1E-6				Illumina [448293]	N
1473	chr11	116400381	116400382	rs7941534	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	11q23.3	NR	rs7941534-?	NR	8E-6		1.2722	[NR]	Affymetrix [722112]	N
1473	chr11	116412612	116412613	rs10502219	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	11q23.3	MGC13125	rs10502219-?	NR	6E-6	(Males)		[NR]	Illumina [283437]	N
1473	chr11	116438850	116438851	rs17492380	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	11q23.3	intergenic	rs17492380-?	NR	9E-6	(AUC)			NR [2092490]	N
1473	chr11	116520526	116520527	rs1240773	21160409	Petrovski S	2010-12-14	AIDS	Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.	HIV-1 susceptibility	531 Sub-Saharan African ancestry cases, 848 Sub-Saharan African ancestry controls	NA	11q23.3	BUD13	rs1240773-?	0.12	8E-6				Illumina [~ 800000]	N
1474	chr11	116584986	116584987	rs4938303	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	11q23.3	ZNF259, APOA1, APOC3, APOA4, APOA5, BUD13	rs4938303-T	0.75	4E-21		0.07	[0.06-0.08] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1474	chr11	116586282	116586283	rs7350481	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Triglycerides	8,993 Japanese ancestry individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs7350481-G	0.43	1E-49		0.241	[0.21-0.27] unit increase	Illumina [561583]	N
1474	chr11	116586282	116586283	rs7350481	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs7350481-T	0.28	9E-10	(HDL)	0.124	[0.085-0.163] unit decrease	Illumina [561583]	N
1474	chr11	116599391	116599392	rs180358	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	11q23.3	MGC13125	rs180358-?	0.23	6E-6			[NR]	Illumina [551642]	N
1474	chr11	116603723	116603724	rs12272004	19185284	Ferrucci L	2009-01-29	Am J Hum Genet	Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.	Carotenoid and tocopherol levels	1,191 European ancestry individuals	2,540 European ancestry individuals, 211 individuals	11q23.3	APOA5	rs12272004-A	0.07	8E-10	(alpha-tocopherol)	0.07	[0.049-0.095] umol/L increase	Illumina [~ 500451]	N
1474	chr11	116603723	116603724	rs12272004	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Triglycerides	17,100 European ancestry individuals, 715 Orcadian individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs12272004-C	0.93	5E-13		0.18	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1474	chr11	116603723	116603724	rs12272004	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs12272004-C	0.93	5E-13		0.18	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1474	chr11	116603723	116603724	rs12272004	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs12272004-C	0.93	7E-7		0.11	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1474	chr11	116607436	116607437	rs1558861	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	11q23.3	ZNF259, APOA1, APOC3, APOA4, APOA5, BUD13	rs1558861-T	0.94	2E-6		0.03	[0.02-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1474	chr11	116607436	116607437	rs1558861	18193046	Kooner JS	2008-01-13	Nat Genet	Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.	Triglycerides	1,005 European ancestry male individuals, 1,006 Indian Asian ancestry male individuals	6,827 European ancestry individuals, 2,528 Mexican ancestry individuals, 1,181 Indian Asian ancestry female individuals	11q23.3	MGC13125, LOC440069	rs1558861-C	0.18	2E-26		17.0	[13.28-20.72] % increase	Perlegen [up to 216774]	N
1474	chr11	116611732	116611733	rs9326246	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	11q23.3	ZNF259, APOA1, APO5A	rs9326246-C	NR	3E-7		1.15	[1.09-1.21]	Illumina [575000] (imputed)	N
1474	chr11	116613659	116613660	rs12280753	20838585	Smith EN	2010-09-09	PLoS Genet	Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.	Cardiovascular disease risk factors	525 European ancestry individuals	2,265 European ancestry individuals	11q23.3	CADM1, APOA5, BUD13	rs12280753-T	0.07	8E-6	(triglycerides)	0.69	[0.40-0.98] % SD increase, SNPxAGE interaction	Illumina [545821]	N
1474	chr11	116617239	116617240	rs11216126	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	HDL cholesterol	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	11q23.3	intergenic	rs11216126-C	0.20	3E-34		0.0322	[0.027-0.037] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
1474	chr11	116619072	116619073	rs28927680	24023261	Keller M	2013-09-10	J Lipid Res	THOC5: a novel gene involved in HDL-cholesterol metabolism.	Lipid traits	839 European ancestry individuals	up to 5,248 European ancestry individuals	11q23.3	BUD13	rs28927680-G	0.09	3E-7	(Triglycerides)	0.22	unit increase	Affymetrix [390619]	N
1474	chr11	116619072	116619073	rs28927680	18193044	Kathiresan S	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	Triglycerides	2,758 individuals	18,544 individuals	11q23.3	APOA1, ZNF259, APOC3, APOA4, APOA5, BUD13	rs28927680-G	0.07	2E-17		0.26	[0.20-0.32] percentage SD increase	Affymetrix [389878]	N
1474	chr11	116626257	116626258	rs11825181	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q23.3	APOA5	rs11825181-A	0.08	3E-11	(1-linoleoylglycerol (1-monolinolein))	0.076	[0.054-0.098] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1474	chr11	116626257	116626258	rs11825181	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Triglycerides-Blood Pressure (TG-BP)	22,161 European ancestry individuals	NA	11q23.3	BUD13	rs11825181-A	NR	3E-9		0.32	[0.22-0.42] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116633861	116633862	rs11820589	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	11q23.3	BUD13	rs11820589-A	NR	6E-9	(TG-GLUC)	0.32	[0.20-0.44] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116639103	116639104	rs10790162	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Waist Circumference - Triglycerides (WC-TG)	22,161 European ancestry individuals	NA	11q23.3	BUD13	rs10790162-A	NR	7E-16		0.39	[0.29-0.49] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116639103	116639104	rs10790162	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome	22,161 European ancestry individuals	NA	11q23.3	BUD13	rs10790162-A	NR	5E-9		0.25	[0.17-0.33] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116639103	116639104	rs10790162	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	HDL Cholesterol - Triglycerides (HDLC-TG)	22,161 European ancestry individuals	NA	11q23.3	BUD13	rs10790162-A	NR	3E-15		0.38	[0.28-0.48] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116647606	116647607	rs2160669	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	8,743 East Asian ancestry individuals	11q23.3	A4, C3, A1, APOA5	rs2160669-?	0.73	3E-128				NR [NR] (imputed)	N
1474	chr11	116647606	116647607	rs2160669	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q23.3	ZNF259, APOA5	rs2160669-G	0.168	9E-6	(TG/HDLC )	0.03	[NR] mmol/L increase	Illumina [899892]	N
1474	chr11	116648916	116648917	rs964184	26256467	Wojczynski MK	2015-07-03	Metabolism	Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).	Postprandial triglyceride response to high fat diet meal	872 European ancestry individuals	843 Old Order Amish individuals	11q23.3	ZPR1	rs964184-C	0.833	1E-9	(AUC)	0.3023	[0.2-0.4] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	11q23.3	APO-cluster	rs964184-G	0.13	2E-157		0.244	[0.23-0.26] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1474	chr11	116648916	116648917	rs964184	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	11q23.3	APO-cluster	rs964184-G	0.13	4E-18		0.08	[0.062-0.098] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1474	chr11	116648916	116648917	rs964184	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	11q23.3	APO-cluster	rs964184-C	0.87	1E-28		0.102	[0.084-0.12] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1474	chr11	116648916	116648917	rs964184	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	11q23.3	APO-cluster	rs964184-G	0.13	4E-39		0.118	[0.1-0.14] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1474	chr11	116648916	116648917	rs964184	25411281	Dashti HS	2014-10-08	Am J Clin Nutr	Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations.	Circulating phylloquinone levels	2,138 European ancestry individuals	NA	11q23.3	ZNF259	rs964184-G	0.15	6E-8	(Model 1)	0.23	[0.15-0.31] unit increase	Affymetrix, Illumina [2543887] (imputed)	N
1474	chr11	116648916	116648917	rs964184	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	11q23.3	ZNF259	rs964184-C	NR	5E-6		4.581	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Triglycerides	1,678 Mexican ancestry high triglyceride cases, 1,645 Mexican ancestry low triglyceride controls	2,129 Mexican ancestry high triglyceride cases, 2,985 Mexican ancestry low triglyceride controls, 903 Mexican ancestry individuals from 73 dyslipidemic families	11q23.3	ZNF259, BUD13	rs964184-G	NR	6E-33		1.89	[1.69-2.08]	Illumina [1661241] (imputed)	N
1474	chr11	116648916	116648917	rs964184	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	11q23.3	ZNF259	rs964184-C	0.86	8E-15	(X-03094)	0.025	[0.019-0.031] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	11q23.3	ZNF259	rs964184-?		9E-10				Affymetrix, Illumina [up to 2500000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	11q23.3	ZNF259	rs964184-?		2E-5				Affymetrix, Illumina [up to 2500000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	11q23.3	APOA1	rs964184-C	0.84	7E-224		0.234	[NR] mg/dL decrease	NR [NR] (imputed)	N
1474	chr11	116648916	116648917	rs964184	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11q23.3	APOA1	rs964184-C	0.84	2E-26		0.086	[NR] unit decrease	NR [NR] (imputed)	N
1474	chr11	116648916	116648917	rs964184	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11q23.3	APOA1	rs964184-C	0.84	6E-48		0.106	[NR] unit increase	NR [NR] (imputed)	N
1474	chr11	116648916	116648917	rs964184	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	11q23.3	APOA1	rs964184-C	0.84	3E-55		0.121	[NR] unit decrease	NR [NR] (imputed)	N
1474	chr11	116648916	116648917	rs964184	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	Triglycerides	7,601 African American individuals, 3,335 Hispanic individuals	7,138 African American individuals	11q23.3	APOC, APOA	rs964184-G	0.248	4E-33	(Hispanic)	0.1567	[NR] unit increase	Affymetrix [NR]	N
1474	chr11	116648916	116648917	rs964184	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	HDL cholesterol	7,917 African American individuals, 3,506 Hispanic individuals	7,138 African American individuals	11q23.3	APOC, APOA	rs964184-G	0.248	3E-12	(Hispanic)	0.0459	[NR] unit decrease	Affymetrix [NR]	N
1474	chr11	116648916	116648917	rs964184	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	Hypertriglyceridemia	1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls	11q23.3	ZNF259, APOA1, APOC3, APOA4, APOA5, BUD13, KIAA0999	rs964184-?	0.30	5E-35		1.77	[1.67-1.87]	Illumina [1361436] (imputed)	N
1474	chr11	116648916	116648917	rs964184	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs964184-?	0.14	8E-20				Illumina [~ 2000000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	22437554	Major JM	2012-03-21	J Nutr	Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.	Response to Vitamin E supplementation	2,112 European ancestry individuals	NA	11q23.3	ZNF259, LOC100128347, APOA5, SIK3, BUD13	rs964184-G	0.15	3E-12	(alpha-TOH)	0.07	[0.050-0.090] mg/L increase	Illumina [549989]	N
1474	chr11	116648916	116648917	rs964184	22437554	Major JM	2012-03-21	J Nutr	Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.	Response to Vitamin E supplementation	2,112 European ancestry individuals	NA	11q23.3	ZNF259, BUD13	rs964184-G	0.15	4E-7	(change in alpha-TOH)	0.88	[0.55-1.21] unit increase	Illumina [549989]	N
1474	chr11	116648916	116648917	rs964184	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	11q23.3	ZNF259	rs964184-G	0.15	3E-31	(TG)	0.23	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
1474	chr11	116648916	116648917	rs964184	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	11q23.3	APOA5	rs964184-?	NR	2E-10	(proportions)	1.0	[NR] % increase	Illumina [NR] (imputed)	N
1474	chr11	116648916	116648917	rs964184	22003152	Grallert H	2011-10-14	Eur Heart J	Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.	Lipoprotein-associated phospholipase A2 activity and mass	12,126 European ancestry individuals, 1,538 individuals	NA	11q23.3	ZNF259	rs964184-C	0.86	8E-11	(Activity concentrations)	0.032	[0.022-0.042] unit decrease	Affymetrix, Illumina [2661766] (imputed)	N
1474	chr11	116648916	116648917	rs964184	21729881	Major JM	2011-07-05	Hum Mol Genet	Genome-wide association study identifies common variants associated with circulating vitamin E levels.	Vitamin E levels	2,402 European ancestry cases, 1612 European ancestry controls	475 European ancestry cases, 517 European ancestry controls, 1,416 cases, 1,359 controls	11q23.3	ZNF259, APOA5, BUD13	rs964184-G	0.15	8E-12		0.04	[0.02-0.06] unit increase	Illumina [NR]	N
1474	chr11	116648916	116648917	rs964184	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	11q23.3	ZNF259, APOA1, APOC3, APOA4, APOA5	rs964184-G	0.13	1E-17		1.13	[1.10-1.16]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	11q23.3	ZNF259, APOA1, APOC3, APOA4, APOA5	rs964184-G	0.12	2E-11		0.03	[0.02-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1474	chr11	116648916	116648917	rs964184	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs964184-G	0.13	7E-240		16.95	[16.01-17.89] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs964184-G	0.13	1E-26		2.85	[2.32-3.38] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs964184-G	0.13	5E-47		1.5	[1.28-1.72] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs964184-G	0.13	6E-57		4.68	[4.11-5.25] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	20657596	Johansen CT	2010-07-25	Nat Genet	Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.	Hypertriglyceridemia	463 European ancestry cases, 1,197 European ancestry controls	NA	11q23.3	APOA5	rs964184-G	0.14	5E-24		3.28	[2.61-4.14]	Affymetrix [~ 2100000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	11q23.3	APOA1, APOC3, APOA4, APOA5	rs964184-G	0.14	4E-62		0.3	[0.24-0.36] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1474	chr11	116648916	116648917	rs964184	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	11q23.3	APOA1, APOC3, APOA4, APOA5	rs964184-G	0.14	1E-12		0.17	[0.11-0.23] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1474	chr11	116649134	116649135	rs11823543	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Triglycerides-Blood Pressure (TG-BP)	22,161 European ancestry individuals	NA	11q23.3	ZNF259	rs11823543-A	NR	3E-9		0.35	[0.23-0.47] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116652206	116652207	rs12286037	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	11q23.3	ZNF259	rs12286037-C	NR	1E-8	(TG-GLUC)	0.32	[0.20-0.44] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116652206	116652207	rs12286037	20442857	Suchindran S	2010-04-29	PLoS Genet	Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.	Lipoprotein-associated phospholipase A2 activity and mass	6,668 European ancestry individuals	NA	11q23.3	ZNF259	rs12286037-T	0.07	4E-8	(activity)	6.4	[NR] nmol/ml/min increase	Affymetrix [360811]	N
1474	chr11	116652206	116652207	rs12286037	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	Triglycerides	8,684 European ancestry individuals	9,741 European ancestry individuals	11q23.3	APOC3, APOA4, APOA5, APOA1	rs12286037-T	0.06	1E-26		25.82	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1474	chr11	116652422	116652423	rs6589566	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	Triglycerides	7,601 African American individuals, 3,335 Hispanic individuals	7,138 African American individuals	11q23.3	APOC, APOA	rs6589566-C	0.0176	5E-14	(AA)	0.2066	[NR] unit increase	Affymetrix [NR]	N
1474	chr11	116652422	116652423	rs6589566	18179892	Wallace C	2008-01-10	Am J Hum Genet	Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.	LDL cholesterol	1,955 European ancestry hypertensive individuals	2,033 European ancestry individuals from 519 families, 1,461 European ancestry twins	11q23.3	APOA1, APOC3, APOA5	rs6589566-G	0.06	3E-11				Affymetrix [400496]	N
1474	chr11	116653295	116653296	rs2075290	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Waist Circumference - Triglycerides (WC-TG)	22,161 European ancestry individuals	NA	11q23.3	ZNF259	rs2075290-C	NR	1E-16		0.41	[0.31-0.51] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116653295	116653296	rs2075290	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome	22,161 European ancestry individuals	NA	11q23.3	ZNF259	rs2075290-C	NR	2E-9		0.26	[0.18-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1474	chr11	116653295	116653296	rs2075290	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	HDL Cholesterol - Triglycerides (HDLC-TG)	22,161 European ancestry individuals	NA	11q23.3	ZNF259	rs2075290-C	NR	2E-14		0.39	[0.29-0.49] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1475	chr11	116654434	116654435	rs603446	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Triglycerides	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	11q23.3	ZNF259, APOA1, APOC3, APOA4, APOA5, BUD13	rs603446-T	0.23	2E-86		0.0876	[0.079-0.096] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1475	chr11	116657560	116657561	rs3741298	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q23.3	ZNF259, APOA5	rs3741298-G	0.48	3E-8	(TG )	0.04	[NR] mg/dL increase	Illumina [899892]	N
1475	chr11	116660685	116660686	rs2266788	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Waist Circumference - Triglycerides (WC-TG)	22,161 European ancestry individuals	NA	11q23.3	APOA5	rs2266788-A	NR	2E-16		0.41	[0.31-0.51] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1475	chr11	116660685	116660686	rs2266788	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Triglycerides-Blood Pressure (TG-BP)	22,161 European ancestry individuals	NA	11q23.3	APOA5	rs2266788-C	NR	4E-8		0.37	[0.23-0.51] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1475	chr11	116660685	116660686	rs2266788	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome	22,161 European ancestry individuals	NA	11q23.3	APOA5	rs2266788-C	NR	2E-9		0.26	[0.18-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1475	chr11	116660685	116660686	rs2266788	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	HDL Cholesterol - Triglycerides (HDLC-TG)	22,161 European ancestry individuals	NA	11q23.3	APOA5	rs2266788-C	NR	5E-13		0.39	[0.29-0.49] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1475	chr11	116662578	116662579	rs651821	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	11q23.3	APOA1, APOC3, APOA4, APOA5	rs651821-C	0.28	2E-59	(TG)	0.17	[0.14-0.20] mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
1475	chr11	116662578	116662579	rs651821	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	11q23.3	APOA1, APOC3, APOA4, APOA5	rs651821-?	NR	8E-20	(Val/serum TG)	0.27	[0.21-0.33] unit increase	Illumina [~ 7700000] (imputed)	N
1475	chr11	116662578	116662579	rs651821	22171074	Tan A	2011-12-30	Hum Mol Genet	A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.	Triglycerides	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	11q23.3	APOA5	rs651821-?	NR	9E-26				Illumina [1940243] (imputed)	N
1475	chr11	116663706	116663707	rs662799	24023260	Wu Y	2013-09-10	J Lipid Res	Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.	Lipid traits	1,782 Filipino ancestry mothers	1,719 Filipino ancestry offsprings	11q23.3	APOA5	rs662799-A	0.76	6E-24	(TG)	0.14	[0.12-0.16] unit decrease	Affymetrix [~ 3700000] (imputed)	N
1475	chr11	116681007	116681008	rs1263173	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	11q23.3	APOA5	rs1263173-A	0.21	2E-7		0.0873	[0.054-0.12] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1475	chr11	116684027	116684028	rs7396835	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	11q23.3	intergenic	rs7396835-T	0.32	1E-9	(TG)	0.23	[NR] mg/dL increase	Affymetrix [408775]	N
1475	chr11	116706046	116706047	rs12721025	23989729	Feenstra B	2013-08-21	JAMA	Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.	Infantile hypertrophic pyloric stenosis	1,001 European ancestry cases, 2,371 European ancestry controls	925 European ancestry cases, 1,621 European ancestry controls, 738 cases, 697 controls	11q23.3	APOA1	rs12721025-A	0.0569	2E-10		1.59	[1.38-1.83]	Illumina [9737928] (imputed)	N
1475	chr11	116722040	116722041	rs10047462	21149283	Oexle K	2010-12-10	Hum Mol Genet	Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.	Iron status biomarkers	Up to 6,616 individuals	NA	11q23.3	APOA	rs10047462-T	NR	4E-25	(sTfR)	0.041	[0.03-0.05] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1475	chr11	116732511	116732512	rs2075292	18193046	Kooner JS	2008-01-13	Nat Genet	Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.	Triglycerides	1,005 European ancestry male individuals, 1,006 Indian Asian ancestry male individuals	6,827 European ancestry individuals, 2,528 Mexican ancestry individuals, 1,181 Indian Asian ancestry female individuals	11q23.3	LOC645044, APOA1, KIAA0999	rs2075292-G	0.24	5E-8		8.7	[5.76-11.64] % increase	Perlegen [up to 216774]	N
1475	chr11	116748313	116748314	rs681524	25060954	Wolber LE	2014-07-24	Hum Mol Genet	Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.	Hearing function	1,022 European ancestry individuals, 280 Carlantino individuals, 1,097 Friuli Venezia Giulia individuals, 804 Korkula individuals, 497 Split individuals, 421 Cilento individuals, 470 Talana individuals, 348 Silk Road individuals	NA	11q23.3	SIK3, LOC100129905, APOA1	rs681524-C	NR	4E-8	(PC2)	0.2439	unit decrease	Affymetrix, Illumina [> 2300000] (imputed)	N
1475	chr11	116782973	116782974	rs11216185	22306654	Feenstra B	2012-02-05	Nat Genet	Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.	Infantile hypertrophic pyloric stenosis	1,001 European ancestry cases, 2,401 European ancestry controls	796 European ancestry cases, 876 European ancestry controls	11q23.3	NR	rs11216185-G	0.05	1E-7		1.57	[1.33-1.86]	Illumina [523420]	N
1476	chr11	116807342	116807343	rs139961185	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Triglycerides	1,678 Mexican ancestry high triglyceride cases, 1,645 Mexican ancestry low triglyceride controls	2,129 Mexican ancestry high triglyceride cases, 2,985 Mexican ancestry low triglyceride controls, 903 Mexican ancestry individuals from 73 dyslipidemic families	11q23.3	SIK3	rs139961185-A	NR	7E-9		1.44	[1.27-1.63]	Illumina [1661241] (imputed)	N
1476	chr11	116829652	116829653	rs7120173	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	11q23.3	KIAA0999	rs7120173-G	0.22	5E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1476	chr11	116884788	116884789	rs11216230	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	HDL cholesterol	3,701 Mexican ancestry individuals	5,114 Mexican ancestry individuals, 903 Mexican ancestry individuals from 73 dyslipidemic families	11q23.3	SIK3	rs11216230-A	NR	3E-10		0.22	[NR] unit increase	Illumina [1661241] (imputed)	N
1477	chr11	116973928	116973929	rs12269901	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	11q23.3	intergenic	rs12269901-C	0.68	2E-6		0.069	[0.041-0.097] unit increase	Affymetrix [~ 2740000] (imputed)	N
1477	chr11	117037360	117037361	rs7112513	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	11q23.3	PAFAH1B2	rs7112513-?	0.13	6E-9	(Soluble transferrin receptor)			Illumina [496032]	N
1478	chr11	117075565	117075566	rs508487	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	11q23.3	PCSK7	rs508487-T	0.04	2E-10	(TRIG)	0.235	[0.16-0.31] mmol/l increase	Illumina [NR] (imputed)	N
1478	chr11	117091608	117091609	rs236918	21149283	Oexle K	2010-12-10	Hum Mol Genet	Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.	Iron status biomarkers	Up to 6,616 individuals	NA	11q23.3	PCSK7	rs236918-C	NR	1E-27	(sTfR)	0.038	[0.03-0.05] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1478	chr11	117156892	117156893	rs1047964	21779381	Schurks M	2011-07-14	PLoS One	Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.	Cardiovascular disease risk factors	5,122 European ancestry female migrain cases	NA	11q23.3	BACE1	rs1047964-?	NR	8E-7	(any migraine - CVD death)	4.67	[2.53-8.62]	Illumina [339596]	N
1480	chr11	117388931	117388932	rs11216435	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	11q23.3	DSCAML1	rs11216435-T	0.32	3E-6	(AA)	4.41	[2.55-6.27] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1481	chr11	117531730	117531731	rs10892151	19074352	Pollin TI	2008-12-17	Science	A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.	Triglycerides	809 Old Order Amish individuals	698 Old Order Amish individuals	11q23.3	APOA1, APOC3, APOA4, APOA5, DSCAML1	rs10892151-A	0.028	3E-29				Affymetrix [381934]	N
1481	chr11	117546481	117546482	rs12787909	25575512	Lu W	2015-01-09	Hum Mol Genet	Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.	Lipoprotein (a) - cholesterol levels	1,376 Old Order Amish individuals	NA	11q23.3	DSCAML1, APOC3	rs12787909-?	NR	5E-9				Affymetrix [~ 2500000] (imputed)	N
1484	chr11	117851051	117851052	rs58603829	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q23.3	IL10RA	rs58603829-A	0.028	6E-6	(Folate )	0.03	[NR] nmol/L increase	Illumina [899892]	N
1485	chr11	118031985	118031986	rs11600901	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	11q23.3	SCN2B	rs11600901-?	NR	9E-6	(Afro-Caribbean)	9.83	[3.58-27.00]	Illumina [2485249] (imputed)	N
1486	chr11	118117017	118117018	rs11216831	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	11q23.3	PHLDB1	rs11216831-A	0.07	4E-6	(EA-triglyceride response)	42.47	[24.4-60.54] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1486	chr11	118145685	118145686	rs17122021	19207018	Kim H	2009-02-01	Pharmacogenomics	Genome-wide association study of acute post-surgical pain in humans.	Pain	112 European ancestry individuals	NA	11q23.3	NR	rs17122021-?	NR	7E-7	(maximum post-operative pain rating)			Affymetrix [374975]	N
1487	chr11	118241994	118241995	rs502514	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	11q23.3	UBE4A	rs502514-G	0.3	2E-6	(univariate, leg)			Illumina [319818]	N
1487	chr11	118341648	118341649	rs7948661	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	11q23.3	NR	rs7948661-C	NR	5E-6	(5 degree of freedom test)	1.05	[1.00-1.10]	NR [1252901] (imputed)	N
1488	chr11	118477366	118477367	rs498872	21531791	Sanson M	2011-04-29	Hum Mol Genet	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	Glioma	4,147 European ancestry cases, 7,435 European ancestry controls	NA	11q23.3	PHLDB1	rs498872-?	NR	5E-11		1.22	[NR]	Illumina [424460]	N
1488	chr11	118477366	118477367	rs498872	19578367	Shete S	2009-07-05	Nat Genet	Genome-wide association study identifies five susceptibility loci for glioma.	Glioma	1,878 European ancestry cases, 3,670 European ancestry controls	2,545 European ancestry cases, 2,953 European ancestry controls	11q23.3	PHLDB1	rs498872-T	0.69	1E-8		1.18	[1.13-1.24]	Illumina [454576]	N
1488	chr11	118486066	118486067	rs11603023	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	11q23.3	PHLDB1	rs11603023-T	0.42	1E-8		0.022	[NR] unit increase	NR [NR] (imputed)	N
1489	chr11	118549581	118549582	rs507080	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	11q23.3	TREH	rs507080-A	0.35	3E-30	(Trehalose)	0.51	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1489	chr11	118573518	118573519	rs4639966	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	11q23.3	NR	rs4639966-G	0.30	1E-16		1.29	[1.22-1.37]	Illumina [493955]	N
1489	chr11	118574674	118574675	rs494459	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11q23.3	TREH	rs494459-T	0.41	2E-8		0.02	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1489	chr11	118611780	118611781	rs10892279	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	11q23.3	DDX6	rs10892279-?	NR	1E-12				Illumina [472854]	N
1490	chr11	118644581	118644582	rs2510897	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	11q23.3	DDX6	rs2510897-A	0.6	4E-9		0.029	[0.017-0.041] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1490	chr11	118698536	118698537	rs638893	22951725	Tang XF	2012-09-06	J Invest Dermatol	Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.	Vitiligo	1,117 Han Chinese ancestry cases, 1,701 Han Chinese ancestry controls	5,740 Han Chinese ancestry cases, 10,324 Han Chinese ancestry controls	11q23.3	AK021715, DDX6, TREH, CXCR5, PHLDB1	rs638893-C	0.11	2E-9		1.22	[1.14-1.30]	Illumina [493909]	N
1490	chr11	118729390	118729391	rs10790268	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11q23.3	CXCR5	rs10790268-G	0.81	1E-15		1.14	[1.11-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1490	chr11	118729390	118729391	rs10790268	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11q23.3	CXCR5	rs10790268-G	0.79	1E-17	(EA)	1.17	[1.13-1.22]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1490	chr11	118741841	118741842	rs4938573	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	11q23.3	CXCR5	rs4938573-C	0.204	6E-20		1.34	[1.26-1.43]	Illumina [up to 21554489]	N
1490	chr11	118743771	118743772	rs6421571	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	11q23.3	CXCR5	rs6421571-C	0.81	3E-12		1.37	[1.25-1.50]	Illumina [507467]	N
1491	chr11	118754352	118754353	rs630923	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	11q23.3	CXCR5	rs630923-C	0.846	7E-9		1.074	[1.039-1.11]	Affymetrix, Illumina [1230000] (imputed)	N
1491	chr11	118754352	118754353	rs630923	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	11q23.3	CXCR5	rs630923-C	NR	3E-7		1.12	[1.1-1.14]	Illumina [465434]	N
1492	chr11	118903038	118903039	rs10892324	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	11q23.3	NR	rs10892324-G	NR	1E-6	(phenotype 2)	1.64	[NR]	Illumina [> 8000000] (imputed)	N
1493	chr11	119099905	119099906	rs4938642	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	11q23.3	CBL	rs4938642-C	NR	8E-11		4.73	[3.31-6.15] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1494	chr11	119216554	119216555	rs4639950	25918517	Yashin AI	2015-04-13	Front Genet	Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.	Lifespan	679 female individuals	432 male individuals	11q23.3	C1QTNF5	rs4639950-?	0.1455	2E-16	(females)	7.619	[NR] unit decrease	Affymetrix [429783]	N
1494	chr11	119235403	119235404	rs2195525	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	11q23.3	USP2	rs2195525-T	0.52	2E-6		0.025	[0.015-0.035] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1496	chr11	119526135	119526136	rs4271390	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	11q23.3	PVRL1, LOC100499227	rs4271390-T	0.25	1E-6		1.2	[NR]	Illumina [7659573] (imputed)	N
1497	chr11	119619912	119619913	rs117807646	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	11q23.3	NR	rs117807646-?	NR	4E-6	(Native Hawaiian)	0.7472	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1500	chr11	120026747	120026748	rs2084898	22990015	Arning A	2012-09-20	Blood	A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.	Stroke (pediatric)	270 European ancestry trios	NA	11q23.3	TRIM29	rs2084898-A	0.126	4E-7	(Nonvascular)	3.04	[NR]	Illumina [334581]	N
1500	chr11	120026747	120026748	rs2084898	22990015	Arning A	2012-09-20	Blood	A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.	Stroke (pediatric)	270 European ancestry trios	NA	11q23.3	TRIM29	rs2084898-A	0.126	4E-6	(All)	2.37	[NR]	Illumina [334581]	N
1500	chr11	120040441	120040442	rs2444240	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	11q23.3	TRIM29	rs2444240-T	NR	4E-7		0.0365	[0.022-0.050] mm decrease	Illumina [1704858] (imputed)	N
1501	chr11	120114420	120114421	rs2847500	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	11q23.3	POU2F3	rs2847500-A	0.135	3E-6		1.14	[1.08-1.21]	Illumina [up to 4778154] (imputed)	N
1502	chr11	120198727	120198728	rs11827818	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	TMEM136, ARHGEF12	rs11827818-A		6E-7		0.23	[0.13-0.33] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120212422	120212423	rs10502235	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10502235-A		4E-7		0.23	[0.13-0.33] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120212600	120212601	rs61528732	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs61528732-T		6E-6		0.4	[0.22-0.58] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120221067	120221068	rs1812974	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs1812974-T		4E-7		0.23	[0.13-0.33] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120221986	120221987	rs12785387	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs12785387-T		2E-8		0.28	[0.18-0.38] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120224788	120224789	rs11824032	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs11824032-A		3E-7		0.24	[0.14-0.34] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120228988	120228989	rs4938802	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs4938802-A		4E-7		0.24	[0.14-0.34] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120235559	120235560	rs10892565	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10892565-T		4E-7		0.23	[0.13-0.33] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120239936	120239937	rs11217843	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs11217843-A		2E-7		0.24	[0.14-0.34] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120242347	120242348	rs12807097	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs12807097-A		1E-7		0.25	[0.15-0.35] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120244191	120244192	rs10892567	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10892567-A		9E-6		0.16	[0.082-0.238] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120244576	120244577	rs7126328	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs7126328-T		4E-6		0.17	[0.092-0.248] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120248341	120248342	rs12270397	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs12270397-T		1E-7		0.24	[0.14-0.34] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120254683	120254684	rs1892894	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs1892894-T		9E-6		0.15	[0.091-0.209] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120256336	120256337	rs17123861	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs17123861-T		8E-8		0.25	[0.15-0.35] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120257494	120257495	rs10790381	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10790381-A		8E-8		0.25	[0.15-0.35] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120268021	120268022	rs4938803	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs4938803-A		8E-8		0.25	[0.15-0.35] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120270169	120270170	rs11217857	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs11217857-A		1E-7		0.24	[0.14-0.34] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120270248	120270249	rs10892569	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10892569-A		7E-8		0.25	[0.15-0.35] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120270252	120270253	rs10750172	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10750172-A		8E-6		0.16	[0.082-0.238] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120270708	120270709	rs7118391	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs7118391-T		9E-6		0.16	[0.082-0.238] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120273596	120273597	rs4245213	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs4245213-A		4E-6		0.17	[0.092-0.248] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120274352	120274353	rs4938806	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs4938806-A		8E-6		0.16	[0.082-0.238] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120278358	120278359	rs6589812	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs6589812-T		7E-6		0.16	[0.082-0.238] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120278687	120278688	rs7937612	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs7937612-T		8E-6		0.16	[0.1-0.22] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120288367	120288368	rs10750173	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10750173-T		9E-6		0.16	[0.082-0.238] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120288371	120288372	rs10790382	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10790382-T		8E-6		0.16	[0.082-0.238] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120289698	120289699	rs12794618	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs12794618-T		8E-8		0.25	[0.15-0.35] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120291136	120291137	rs10892575	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10892575-C		2E-7		0.24	[0.14-0.34] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120292476	120292477	rs76693355	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs76693355-T		5E-9		0.35	[0.23-0.47] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120293137	120293138	rs11217863	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	ARHGEF12	rs11217863-A		6E-8		0.3	[0.18-0.42] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120293489	120293490	rs6589813	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs6589813-A		9E-6		0.16	[0.082-0.238] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120294003	120294004	rs11823264	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs11823264-A		1E-7		0.24	[0.14-0.34] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120294422	120294423	rs10892576	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10892576-T		4E-6		0.17	[0.092-0.248] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120294860	120294861	rs7115714	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs7115714-A		7E-6		0.16	[0.082-0.238] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120299706	120299707	rs7129944	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs7129944-T		9E-8		0.24	[0.14-0.34] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120300803	120300804	rs11217866	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs11217866-A		1E-7		0.24	[0.14-0.34] unit increase	Illumina [NR] (imputed)	N
1502	chr11	120311156	120311157	rs77216358	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs77216358-A		7E-6		0.47	[0.25-0.69] unit decrease	Illumina [NR] (imputed)	N
1502	chr11	120311197	120311198	rs4936518	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs4936518-A		2E-8		0.27	[0.17-0.37] unit decrease	Illumina [NR] (imputed)	N
1503	chr11	120325547	120325548	rs11217874	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs11217874-A		1E-8		0.27	[0.17-0.37] unit increase	Illumina [NR] (imputed)	N
1503	chr11	120325558	120325559	rs11217875	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs11217875-A		1E-7		0.24	[0.14-0.34] unit increase	Illumina [NR] (imputed)	N
1503	chr11	120331700	120331701	rs4938807	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs4938807-A		1E-7		0.24	[0.14-0.34] unit increase	Illumina [NR] (imputed)	N
1503	chr11	120337711	120337712	rs80040504	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs80040504-A		9E-6		0.47	[0.25-0.69] unit increase	Illumina [NR] (imputed)	N
1503	chr11	120340059	120340060	rs2305013	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	intergenic	rs2305013-A		7E-6		0.39	[0.21-0.57] unit decrease	Illumina [NR] (imputed)	N
1503	chr11	120340382	120340383	rs11217878	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs11217878-A		8E-8		0.24	[0.14-0.34] unit increase	Illumina [NR] (imputed)	N
1503	chr11	120346359	120346360	rs2276035	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs2276035-A		9E-8		0.24	[0.14-0.34] unit increase	Illumina [NR] (imputed)	N
1503	chr11	120346359	120346360	rs2276035	25173105	Gharahkhani P	2014-08-31	Nat Genet	Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,155 European ancestry cases, 1,922 European ancestry controls	3,548 European ancestry cases, 9,496 European ancestry controls	11q23.3	ARHGEF12	rs2276035-A	0.16	8E-6		1.18	[NR]	Illumina [7594768] (imputed)	N
1503	chr11	120348583	120348584	rs10892583	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	genic	rs10892583-A		2E-6		0.2	[0.12-0.28] unit increase	Illumina [NR] (imputed)	N
1503	chr11	120361393	120361394	rs56693116	25637523	Springelkamp H	2015-01-30	Hum Mol Genet	ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Intraocular pressure	8,015 individuals	7,471 individuals	11q23.3	intergenic	rs56693116-T		1E-6		0.24	[0.14-0.34] unit increase	Illumina [NR] (imputed)	N
1504	chr11	120520628	120520629	rs4245040	23728934	Yang L	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.	Attention deficit hyperactivity disorder	1,040 Han Chinese ancestry cases, 963 Han Chinese ancestry controls	NA	11q23.3	GRIK4	rs4245040-?	NR	7E-6				Affymetrix [656051]	N
1506	chr11	120809459	120809460	rs12797755	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	11q23.3	GRIK4	rs12797755-?	NR	8E-6	(Digit Span Forward)			Illumina [up to 563855]	N
1509	chr11	121204600	121204601	rs4936613	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	11q24.1	SC5DL	rs4936613-?	NR	6E-6				Affymetrix, Illumina [~ 1300000]	N
1509	chr11	121206448	121206449	rs116875324	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	11q24.1	NR	rs116875324-T	0.05	9E-6		0.229	[0.13-0.33] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1510	chr11	121243715	121243716	rs72991	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	11q24.1	intergenic	rs72991-?	0.25	5E-7	(CSJC, RF+)	2.45	[NR] unit decrease	Illumina [534053]	N
1511	chr11	121435586	121435587	rs11218343	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	11q24.1	SORL1	rs11218343-T	0.96	9E-6		1.3	[1.16-1.45]	NR [NR]	N
1511	chr11	121435586	121435587	rs11218343	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	11q24.1	SORL1	rs11218343-T	0.961	1E-14		1.2987	[1.22-1.39]	Illumina [7055881] (imputed)	N
1511	chr11	121435586	121435587	rs11218343	23565137	Miyashita A	2013-04-02	PLoS One	SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.	Alzheimer's disease (late onset)	891 Japanese ancestry cases, 844 Japanese ancestry controls	1,224 East Asian ancestry cases, 2,114 East Asian ancestry controls, 11,840 European ancestry cases, 10,931 European ancestry controls	11q24.1	SORL1	rs11218343-?	0.96	2E-9		1.23	[1.15-1.33]	Affymetrix [5877918] (imputed)	N
1511	chr11	121497883	121497884	rs10892761	25599974	Zhang H	2015-01-19	Genet Epidemiol	A Genome-Wide Association Study of Early Spontaneous Preterm Delivery.	Spontaneous preterm birth (preterm birth)	916 pre-term birth neonates, 935 term birth neonates	243 pre-term birth neonates, 149 term birth neonates	11q24.1	SORL1	rs10892761-?	0.64	3E-6		1.37	[NR]	Affymetrix [797196]	N
1513	chr11	121744177	121744178	rs1219407	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Mood disorder in prion disease	Up to 170 cases	NA	11q24.1	SORL1	rs1219407-?	0.073	4E-6		7.6	[2.83-20.39]	Illumina [518938]	N
1515	chr11	121954656	121954657	rs7121446	20838585	Smith EN	2010-09-09	PLoS Genet	Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.	Cardiovascular disease risk factors	525 European ancestry individuals	2,265 European ancestry individuals	11q24.1	SORL1, BLID	rs7121446-G	0.78	3E-6	(waist circumference)	0.15	[0.09-0.21] % SD decrease, SNPxAGE interaction	Illumina [545821]	N
1516	chr11	122030189	122030190	rs577948	19779542	Nakanishi H	2009-09-25	PLoS Genet	A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1.	Myopia (pathological)	297 Japanese ancestry cases, 934 Japanese ancestry controls	533 Japanese ancestry cases, 977 Japanese ancestry controls	11q24.1	LOC399959, BLID	rs577948-G	0.52	2E-7		1.37	[1.21-1.54]	Illumina [411777]	N
1517	chr11	122189464	122189465	rs565229	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	11q24.1	intergenic	rs565229-?	0.10	4E-6	(pltcoll)			Affymetrix [70897]	N
1518	chr11	122391186	122391187	rs2084637	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	11q24.1	TRNAK27, GLULP3, UBASH3B	rs2084637-T	0.89	9E-7		0.32	[0.18-0.46] unit decrease	Affymetrix, Illumina [up to 2600000] (imputed)	N
1519	chr11	122522374	122522375	rs7941030	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11q24.1	UBASH3B	rs7941030-C	0.39	1E-14		0.027	[NR] unit increase	NR [NR] (imputed)	N
1519	chr11	122522374	122522375	rs7941030	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	11q24.1	UBASH3B	rs7941030-C	0.39	2E-14		0.028	[NR] unit increase	NR [NR] (imputed)	N
1519	chr11	122522374	122522375	rs7941030	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	11q24.1	UBASH3B	rs7941030-G	0.37	3E-8		0.31	[0.15-0.47] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1519	chr11	122522374	122522375	rs7941030	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	11q24.1	UBASH3B	rs7941030-C	0.38	2E-10		0.97	[0.6-1.34] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1519	chr11	122526600	122526601	rs7128198	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	11q24.1	UBASH3B	rs7128198-T	0.38	4E-9		0.036	[0.024-0.048] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1522	chr11	122845074	122845075	rs1461503	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	11q24.1	BSX	rs1461503-C	0.57	3E-26		0.05	[0.04-0.06] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1522	chr11	122870682	122870683	rs6589964	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	11q24.1	BSX	rs6589964-A	0.48	2E-12		2.7	[1.92-3.48] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1522	chr11	122873075	122873076	rs2126200	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q24.1	NR	rs2126200-C	0.541753456007146	7E-6	(IGP21)	0.1392	[0.078-0.2] unit decrease	Illumina [~ 2500000] (imputed)	N
1525	chr11	123264641	123264642	rs1943466	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		11q24.1	intergenic	rs1943466-?	NR	6E-7		1.69	[NR]	Illumina [up to 810372] (imputed)	N
1525	chr11	123264641	123264642	rs1943466	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer (hypertension) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		11q24.1	intergenic	rs1943466-?	NR	1E-6		1.82	[NR]	Illumina [up to 810372] (imputed)	N
1526	chr11	123361396	123361397	rs735665	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	11q24.1	SCN3B, GRAMD1B	rs735665-A	0.19	4E-24		1.64	[NR]	Illumina [450000] (imputed)	N
1526	chr11	123361396	123361397	rs735665	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	11q24.1	SCN3B	rs735665-A	0.19	4E-39		1.62	[NR]	Illumina [549934]	N
1526	chr11	123361396	123361397	rs735665	22700719	Slager SL	2012-06-13	Blood	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,121 European ancestry cases, 3,745 European ancestry controls	861 European ancestry cases, 2,033 European ancestry controls	11q24.1	NR	rs735665-A	0.20	3E-12		1.52	[1.35-1.72]	Affymetrix, Illumina [~ 1500000] (imputed)	N
1526	chr11	123361396	123361397	rs735665	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	11q24.1	intergenic	rs735665-T	0.21	4E-9	(CLL/SLL)	1.81	[1.50-2.20]	Illumina [312768]	N
1526	chr11	123361396	123361397	rs735665	18758461	Di Bernardo MC	2008-08-31	Nat Genet	A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	505 European ancestry cases, 1,438 European ancestry controls	1,024 European ancestry cases, 1,677 European ancestry controls	11q24.1	GRAMD1B	rs735665-A	0.21	4E-12		1.45	[1.31-1.61]	Illumina [345665]	N
1526	chr11	123394635	123394636	rs77502336	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q24.1	NR	rs77502336-C	NR	4E-10		1.07	[NR]	Illumina [7158791] (imputed)	N
1526	chr11	123394635	123394636	rs77502336	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	11q24.1	GRAMD1B	rs77502336-C	0.322	8E-9		1.066	[1.043-1.090]	Affymetrix, Illumina [9005918] (imputed)	N
1527	chr11	123595926	123595927	rs2126709	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	11q24.1	ZNF202	rs2126709-?	NR	4E-7	(SAS)			Affymetrix [492000]	N
1528	chr11	123648332	123648333	rs17744026	23967269	Kim JH	2013-08-13	PLoS One	A genome-wide association study of total serum and mite-specific IgEs in asthma patients.	IgE levels in asthmatics (D.p. specific)	329 Korean ancestry D.p.-positive cases, 548 Korean ancestry D.p.-negative cases	NA	11q24.1	OR6X1	rs17744026-T	0.905	3E-6		4.0	[2.08-7.69]	Illumina [442089]	N
1529	chr11	123751827	123751828	rs12280105	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		11q24.1	PMP22CD	rs12280105-A	NR	3E-6		0.7135	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1530	chr11	123920644	123920645	rs4936891	22633400	Kosova G	2012-05-23	Am J Hum Genet	Genome-wide association study identifies candidate genes for male fertility traits in humans.	Male fertility	269 Hutterite males	NA	11q24.2	OR10G7	rs4936891-C	0.36	9E-6	(Birth rate, additive)			Affymetrix [248210]	N
1530	chr11	123956465	123956466	rs1893767	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q24.2	LOH11CR2A	rs1893767-G	0.126	9E-6	(Sitting height )	0.03	[NR] cm increase	Illumina [899892]	N
1530	chr11	123956465	123956466	rs1893767	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q24.2	LOH11CR2A	rs1893767-G	0.126	4E-6	(Height )	0.04	[NR] cm increase	Illumina [899892]	N
1531	chr11	124017492	124017493	rs4936894	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to death)	25,007 European ancestry individuals	10,411 European ancestry individuals	11q24.2	VWA5A	rs4936894-A	0.23	2E-6		0.09	[0.05-0.13] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1533	chr11	124263573	124263574	rs185888204	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	11q24.2	OR8B3	rs185888204-A	NR	2E-7	(Perc15, Cases)	7.1	[1.22-12.98] unit decrease	Illumina [7600000] (imputed)	N
1534	chr11	124438611	124438612	rs10893268	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	11q24.2	OR8A1	rs10893268-T		1E-6	(EA, factor score analysis)	0.069	[NR] unit decrease	Affymetrix [up to 730090]	N
1534	chr11	124461273	124461274	rs7127399	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q24.2	NR	rs7127399-G	NR	6E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1535	chr11	124537994	124537995	rs544368	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	11q24.2	NR	rs544368-T	0.12	6E-6		1.22	[NR]	Affymetrix [1769948] (imputed)	N
1535	chr11	124539272	124539273	rs12282107	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	11q24.2	SIAE	rs12282107-C	0.24	5E-14	(Acetylcarnitine)	0.29	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1535	chr11	124606284	124606285	rs12807809	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	11q24.2	NRGN	rs12807809-T	0.83	2E-9		1.15	[NR]	Illumina [314868]	N
1535	chr11	124613956	124613957	rs55661361	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q24.2	NR	rs55661361-G	NR	1E-12		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1535	chr11	124613956	124613957	rs55661361	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	11q24.2	ESAM, MSANTD2, NRGN, VSIG2	rs55661361-G	0.665	3E-12		1.0799136	[1.06-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
1537	chr11	124821574	124821575	rs4408325	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	11q24.2	CCDC15	rs4408325-?	NR	1E-7				Affymetrix [5486770] (imputed)	N
1537	chr11	124909581	124909582	rs76239813	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	11q24.2	NR	rs76239813-A	0.016	7E-6		7.44	[3.10-17.87]	Illumina [7261187] (imputed)	N
1538	chr11	124984854	124984855	rs663734	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	11q24.2	LOC399965	rs663734-?	NR	5E-6		2.254	[1.32-3.18] unit decrease	Illumina [498648]	N
1539	chr11	125170638	125170639	rs1426153	22488850	Zuo L	2012-04-04	Am J Med Genet B Neuropsychiatr Genet	Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls, 449 African American cases, 480 African American controls	NA	11q24.2	PKNOX2	rs1426153-?	NR	2E-6				Illumina [805814]	N
1539	chr11	125172592	125172593	rs750338	21703634	Wang KS	2011-06-22	J Psychiatr Res	A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.	Alcohol dependence	1,283 European ancestry cases, 1,416 European ancestry controls	1,650 European ancestry cases and 1,684 European ancestry controls from 778 nuclear families	11q24.2	PKNOX2	rs750338-C	0.22	1E-6				Illumina [up to 818773]	N
1540	chr11	125178402	125178403	rs10893366	21956439	Zuo L	2011-09-28	Neuropsychopharmacology	Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.	Alcohol dependence	1,409 European ancestry cases, 1,518 European ancestry controls, 681 African American cases, 508 African American controls	NA	11q24.2	PKNOX2	rs10893366-?	NR	8E-6	(EA + AA)			Illumina [805814]	N
1540	chr11	125179852	125179853	rs12284594	21298047	Chen X	2011-01-27	PLoS One	The nuclear transcription factor PKNOX2 is a candidate gene for substance dependence in European-origin women.	Substance dependence	2,524 European ancestry individuals, 1,103 African ancestry individuals	NA	11q24.2	PKNOX2	rs12284594-G	NR	7E-8	(EA women)	1.77	[NR]	Illumina [830696]	N
1540	chr11	125193595	125193596	rs11601321	25649651	Wang X	2015-02-03	J Alzheimers Dis	Genetic Determinants of Survival in Patients with Alzheimer's Disease.	Alzheimer's disease (survival time)	983 cases	NA	11q24.2	PKNOX2	rs11601321-?		8E-6		1.63	[NR]	Illumina [803323]	N
1540	chr11	125241045	125241046	rs12273350	22137330	Sanchez-Juan P	2011-11-30	Neurobiol Aging	Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.	Creutzfeldt-Jakob disease (variant)	93 European ancestry cases, 1,504 European ancestry controls	42 European ancestry cases	11q24.2	NR	rs12273350-?	NR	2E-6				Affymetrix [287554]	N
1540	chr11	125259299	125259300	rs731716	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	11q24.2	PKNOX2	rs731716-?	NR	5E-6	(EA)	1.96	[1.12-2.8] unit increase	Affymetrix, Illumina [2033301]	N
1540	chr11	125259423	125259424	rs2059614	25890600	Guo Q	2015-04-18	J Natl Cancer Inst	Identification of novel genetic markers of breast cancer survival.	Breast cancer (survival)	23,059 European ancestry estrogen-receptor positive cases, 6,881 European ancestry estrogen-receptor negative cases, 8,014 European ancestry cases		11q24.2	HEPACAM, HEPN1, CCDC15, SLC37A2, TMEM218, FEZ1, MGC39545, STT3A, CHEK1, ACRV1, PATE1, PATE2, PATE3, PATE4, HYLS1, PKNOX2, ROBO4	rs2059614-?	0.06	1E-9	(ER -ve)	1.9	[1.54-2.33]	Affymetrix, Illumina [9000000] (imputed)	N
1540	chr11	125277493	125277494	rs7112365	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q24.2	PKNOX2	rs7112365-A	0.07	2E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1540	chr11	125304008	125304009	rs1783925	22648509	Wang KS	2012-05-31	J Mol Neurosci	PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.	Formal thought disorder in schizophrenia	835 European ancestry cases, 2,694 European ancestry controls	NA	11q24.2	PKNOX2	rs1783925-?	0.70	4E-7		1.39	[NR]	Affymetrix [729454]	N
1541	chr11	125313598	125313599	rs7930295	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	11q24.2	FEZ1	rs7930295-G	0.86	3E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
1541	chr11	125323964	125323965	rs11220082	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	11q24.2	FEZ1, El24, PKNOX2	rs11220082-?	NR	7E-7		1.1	[NR]	Affymetrix [745006]	N
1542	chr11	125461708	125461709	rs548181	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	11q24.2	STT3A	rs548181-?	0.884	9E-7	(Modelling analysis)			NR [1252901] (imputed)	N
1542	chr11	125461708	125461709	rs548181	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	11q24.2	STT3A	rs548181-G	0.88	1E-6		1.1	[1.06-1.14]	Affymetrix, Illumina [1252901] (imputed)	N
1544	chr11	125826701	125826702	rs4937076	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		11q24.2	CDON	rs4937076-A	NR	4E-8		0.15	[0.097-0.203] unit decrease	Illumina [2446724] (imputed)	N
1545	chr11	125873101	125873102	rs7104745	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	11q24.2	KIRREL3	rs7104745-G	0.458	6E-6		0.07	[0.039-0.101] cup size increase	Illumina [7422970] (imputed)	N
1545	chr11	125905257	125905258	rs472926	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	11q24.2	CDON	rs472926-C	0.15	3E-6				Affymetrix [614963]	N
1546	chr11	126028716	126028717	rs563519	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	11q24.2	RPUSD4	rs563519-?	0.66	3E-6	(AA)	1.45	[0.97-2.17]	Affymetrix, Illumina [2478304] (imputed)	N
1546	chr11	126030614	126030615	rs10501858	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	11q24.2	NR	rs10501858-?	0.091	1E-6		1.539	[1.295-1.829] unit increase	Illumina [563945]	N
1548	chr11	126243951	126243952	rs11220462	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	11q24.2	ST3GAL4	rs11220462-A	0.14	7E-21		0.059	[NR] unit increase	NR [NR] (imputed)	N
1548	chr11	126243951	126243952	rs11220462	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	11q24.2	ST3GAL4	rs11220462-A	0.14	6E-15		0.047	[NR] unit increase	NR [NR] (imputed)	N
1548	chr11	126243951	126243952	rs11220462	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	11q24.2	ST3GAL4	rs11220462-A	0.14	1E-15		1.95	[1.44-2.46] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1548	chr11	126243951	126243952	rs11220462	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	11q24.2	ST3GAL4	rs11220462-T	0.11	2E-11		2.01	[1.36-2.66] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1548	chr11	126244954	126244955	rs4307732	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	11q24.2	ST3GAL4	rs4307732-A	0.11	3E-12		0.067	[0.047-0.087] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1548	chr11	126244954	126244955	rs4307732	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	11q24.2	ST3GAL4	rs4307732-A	0.11	3E-9		0.056	[0.038-0.074] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1548	chr11	126281896	126281897	rs4937126	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	11q24.2	intergenic	rs4937126-G	0.69	5E-6		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1548	chr11	126283784	126283785	rs2236653	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	11q24.2	ST3GAL4	rs2236653-T	0.42	2E-9		1.5	[0.60-2.50] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1548	chr11	126296588	126296589	rs4935969	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	11q24.2	NR	rs4935969-?	NR	4E-7	(hair color)			Illumina [535076]	N
1550	chr11	126607579	126607580	rs7114000	23667675	Tanikawa C	2013-05-07	PLoS One	Genome wide association study of age at menarche in the Japanese population.	Menarche (age at onset)	15,495 Japanese ancestry females	NA	11q24.2	KIRREL3	rs7114000-A	0.06837	2E-6		0.1503	[0.088-0.212] year increase	Illumina [2310762] (imputed)	N
1551	chr11	126619189	126619190	rs1557488	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	11q24.2	KIRREL3	rs1557488-T	0.18	5E-6				Perlegen [378332]	N
1552	chr11	126809704	126809705	rs1939992	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	11q24.2	KIRREL3	rs1939992-?	0.26	1E-6	(Total IGF-1)			Illumina [496032]	N
1552	chr11	126859156	126859157	rs620875	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	11q24.2	KIRREL3	rs620875-?	0.101	3E-6	(clozapine-triglycerides)			Affymetrix [492900]	N
1554	chr11	127081590	127081591	rs4529888	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	11q24.2	intergenic	rs4529888-?	0.43	5E-6	(Joint)	1.1364	[1.06-1.22]	Illumina [254145]	N
1554	chr11	127110182	127110183	rs2514895	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q24.2	NR	rs2514895-C	0.812138921875	2E-6	(IGP36)	0.1858	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1556	chr11	127297453	127297454	rs7936591	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	11q24.2	BC030092	rs7936591-T	0.499	8E-6	(Commissions)	2.08	[1.18-2.98] unit decrease	Illumina [799713]	N
1557	chr11	127460570	127460571	rs11822667	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	11q24.2	intergenic	rs11822667-A	0.0546	4E-6		1.6601	[NR] unit increase	Illumina [1216074] (imputed)	N
1559	chr11	127686352	127686353	rs1019623	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	11q24.2	intergenic	rs1019623-T		1E-6		107.87	[64.08-151.66] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
1559	chr11	127716139	127716140	rs2322978	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	11q24.2	LOC387820	rs2322978-?		8E-7				Illumina [859311]	N
1559	chr11	127746514	127746515	rs1808470	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	11q24.2	NR	rs1808470-?		3E-6		0.1	unit increase	Illumina [1211988] (imputed)	N
1559	chr11	127761665	127761666	rs7927044	22560479	Forno E	2012-05-02	J Allergy Clin Immunol	Genome-wide association study of the age of onset of childhood asthma.	Asthma (childhood onset)	573 European ancestry children	107 European ancestry children, 591 Hispanic children, 233 children	11q24.2	NR	rs7927044-A	0.0134	7E-9		0.16	[NR] unit decrease	Illumina [512296]	N
1562	chr11	128092491	128092492	rs71479994	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	11q24.3	NR	rs71479994-?	NR	9E-6	(Native Hawaiian)	0.8798	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1562	chr11	128147448	128147449	rs55974252	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	11q24.3	ETS1	rs55974252-C	NR	3E-6	(EA)	1.12	[1.07-1.18]	Illumina [up to 4778154] (imputed)	N
1562	chr11	128186881	128186882	rs10893845	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	11q24.3	ETS1	rs10893845-T	0.5074	6E-7		0.059	[0.036-0.082] unit decrease	Illumina [2400000] (imputed)	N
1563	chr11	128189100	128189101	rs4937314	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	11q24.3	intergenic	rs4937314-C	0.17	7E-6				Affymetrix [614963]	N
1563	chr11	128194449	128194450	rs7933433	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	11q24.3	ETS1	rs7933433-T	NR	7E-6		1.08	[1.04-1.11]	Illumina [up to 4778154] (imputed)	N
1563	chr11	128194449	128194450	rs7933433	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	11q24.3	ETS1	rs7933433-T	NR	3E-6	(EA)	1.11	[1.06-1.16]	Illumina [up to 4778154] (imputed)	N
1563	chr11	128206409	128206410	rs6590322	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	11q24.3	intergenic	rs6590322-?	NR	9E-6				Illumina [516645]	N
1563	chr11	128311058	128311059	rs6590330	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	11q24.3	ETS1	rs6590330-A	0.35	3E-8		1.51		Illumina [2100739] (imputed)	N
1563	chr11	128311058	128311059	rs6590330	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	11q24.3	ETS1	rs6590330-A	0.34	2E-25		1.37	[1.29-1.45]	Illumina [493955]	N
1564	chr11	128328958	128328959	rs1128334	20169177	Yang W	2010-02-12	PLoS Genet	Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.	Systemic lupus erythematosus	314 Chinese ancestry cases, 1,484 Chinese ancestry controls	2,630 Chinese ancestry cases, 2,155 Chinese ancestry controls, 314 Thai ancestry cases, 519 Thai ancestry controls	11q24.3	ETS1	rs1128334-A	0.35	2E-11		1.29	[1.20-1.39]	Illumina [514221]	N
1564	chr11	128380973	128380974	rs11221332	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	11q24.3	ETS1	rs11221332-A	0.24	5E-16		1.21	[1.16-1.27]	Illumina [292387]	N
1564	chr11	128403207	128403208	rs6590334	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	11q24.3	ETS1	rs6590334-T	NR	2E-9	(EA)	1.14	[1.09-1.18]	Illumina [up to 4778154] (imputed)	N
1564	chr11	128403207	128403208	rs6590334	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	11q24.3	ETS1	rs6590334-T	NR	1E-8		1.1	[1.07-1.14]	Illumina [up to 4778154] (imputed)	N
1564	chr11	128436952	128436953	rs7117932	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q24.3	ETS1	rs7117932-A	0.287	8E-6	(MCP1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1565	chr11	128492738	128492739	rs4937362	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	11q24.3	ETS1	rs4937362-T	0.456	7E-11		1.19	[1.13-1.25]	Illumina [up to 21554489]	N
1565	chr11	128492738	128492739	rs4937362	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	11q24.3	ETS1, FLI1	rs4937362-T	0.68	8E-7		1.09	[1.06-1.13]	Affymetrix, Illumina [1948139]	N
1565	chr11	128496951	128496952	rs73013527	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11q24.3	ETS1	rs73013527-C	0.72	4E-6	(East Asian)	1.14	[1.08-1.21]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1565	chr11	128496951	128496952	rs73013527	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11q24.3	ETS1	rs73013527-C	0.56	1E-10		1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1565	chr11	128496951	128496952	rs73013527	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	11q24.3	ETS1	rs73013527-C	0.5	1E-6	(EA)	1.08	[1.05-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1566	chr11	128582556	128582557	rs665440	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		11q24.3	FLI1	rs665440-?	0.073	2E-8			[NR]	Affymetrix, Illumina [152234]	N
1566	chr11	128586154	128586155	rs654723	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	11q24.3	FLI1	rs654723-A	0.62	4E-11		0.025	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1567	chr11	128816220	128816221	rs11221522	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	11q24.3	TP53AIP1, ARHGAP32, 5S_rRNA	rs11221522-A	NR	5E-7		0.2412	unit decrease	Illumina [5767231] (imputed)	N
1572	chr11	129461170	129461171	rs11820646	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	11q24.3	intergenic	rs11820646-C	0.59	1E-9		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1572	chr11	129473689	129473690	rs7107217	22383897	Long J	2012-02-23	PLoS Genet	Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.	Breast cancer	2,918 Chinese ancestry cases, 2,324 Chinese ancestry controls	up to 16,173 East Asian ancestry cases, up to 18,282 East Asian ancestry controls	11q24.3	TMEM45B, BARX2	rs7107217-C	0.36	5E-7		1.08	[1.05-1.11]	Affymetrix [690947]	N
1572	chr11	129473689	129473690	rs7107217	22238593	Palmer ND	2012-01-04	PLoS One	A genome-wide association search for type 2 diabetes genes in African Americans.	Type 2 diabetes	965 African American cases, 1,029 African American controls	2,167 African American cases, 2,288 African American controls	11q24.3	TMEM45B, BARX2	rs7107217-C	0.91	3E-7		1.18	[1.10-1.27]	Affymetrix [832357]	N
1574	chr11	129698855	129698856	rs10894147	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q24.3	TMEM45B	rs10894147-A	0.104	7E-6	(Weight z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
1578	chr11	130273229	130273230	rs11222084	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	11q24.3	ADAMTS-8	rs11222084-T	0.38	2E-11	(Pulse Pressure)	0.337	[0.24-0.44] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1578	chr11	130280724	130280725	rs4936099	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	11q24.3	ADAMTS8	rs4936099-C	NR	5E-9		0.009	[0.0051-0.0129] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1580	chr11	130480591	130480592	rs7130144	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	11q24.3	ADAMTS15, C11orf44	rs7130144-C	0.97	4E-6	(men)	0.256	[0.15-0.36] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1580	chr11	130480591	130480592	rs7130144	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	11q24.3	ADAMTS15, C11orf44	rs7130144-C	0.97	2E-6		0.166	[0.097-0.235] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1580	chr11	130529218	130529219	rs12792526	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	11q24.3	ADAMTS15	rs12792526-A	0.87	4E-6	(Age 20-60 years)	0.2189	[0.13-0.31] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1580	chr11	130529218	130529219	rs12792526	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	11q24.3	ADAMTS15	rs12792526-A	0.87	3E-6	(Age 20-81 years)	0.2011	[0.12-0.29] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1581	chr11	130629121	130629122	rs10894239	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q24.3	C11orf44, TRUB2, COQ4	rs10894239-A	0.466	6E-6	(WC change )	0.03	[NR] cm/y increase	Illumina [899892]	N
1582	chr11	130690161	130690162	rs1944146	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	11q24.3	LOC100507431	rs1944146-A	0.524	3E-6		1.08	[1.046-1.115]	Affymetrix, Illumina [NR] (imputed)	N
1582	chr11	130718629	130718630	rs10791097	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q24.3	NR	rs10791097-T	NR	2E-12		1.08	[NR]	Illumina [7158791] (imputed)	N
1582	chr11	130718629	130718630	rs10791097	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	11q24.3	SNX19	rs10791097-T	0.46	1E-12		1.076	[1.055-1.098]	Affymetrix, Illumina [9005918] (imputed)	N
1583	chr11	130817578	130817579	rs7940866	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	11q25	SNX19	rs7940866-T	0.487	2E-9		1.09	[1.06-1.12]	Affymetrix, Illumina [9871789]	N
1583	chr11	130830747	130830748	rs10894294	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	11q25	intergenic	rs10894294-?	NR	3E-7		1.1	[NR]	Affymetrix [745006]	N
1583	chr11	130830747	130830748	rs10894294	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	11q25	NR	rs10894294-?	NR	3E-6		1.08	[1.05-1.12]	Affymetrix, Illumina [1252901] (imputed)	N
1586	chr11	131300367	131300368	rs35659386	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q25	NR	rs35659386-A	NR	9E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1586	chr11	131320069	131320070	rs1550976	21182207	Salyakina D	2010-12-01	Autism Res	Variants in several genomic regions associated with asperger disorder.	Asperger disorder	848 individuals from 232 families	NA	11q25	NTM	rs1550976-?	0.33	2E-6				Illumina [439282] (imputed)	N
1586	chr11	131325245	131325246	rs11601906	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q25	NTM	rs11601906-A	0.021	2E-6	(Ft4 )	0.04	[NR] ng/dL increase	Illumina [899892]	N
1587	chr11	131336073	131336074	rs992564	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	11q25	NR	rs992564-?	NR	4E-6		1.6221	[NR]	Affymetrix [722112]	N
1587	chr11	131350967	131350968	rs12421680	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Sunburns	9,283 European ancestry individuals	4,236 European ancestry individuals	11q25	NTM	rs12421680-A	NR	6E-6		0.41	[0.23-0.59] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
1587	chr11	131371018	131371019	rs433406	22633400	Kosova G	2012-05-23	Am J Hum Genet	Genome-wide association study identifies candidate genes for male fertility traits in humans.	Male fertility	269 Hutterite males	NA	11q25	NTM	rs433406-G	0.47	3E-6	(Birth rate, additive)			Affymetrix [248210]	N
1590	chr11	131807170	131807171	rs12098973	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	11q25	HNT	rs12098973-G	NR	1E-6	(Dichotomous variable)	2.17	[1.59-3.03]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1592	chr11	132010116	132010117	rs4468361	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	11q25	OPCML, NTM	rs4468361-T	0.32	8E-6	(TNFA)			Illumina [588352]	N
1594	chr11	132281650	132281651	rs1940013	17903308	Gottlieb DJ	2007-09-19	BMC Med Genet	Genome-wide association of sleep and circadian phenotypes.	Sleep-related phenotypes	up to 738 individuals from 203 families	NA	11q25	OPCML	rs1940013-?	NR	6E-6	(Bedtime)			Affymetrix [70897]	N
1595	chr11	132481172	132481173	rs9787796	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Middle childhood and early adolescence aggressive behavior	16,311 European ancestry individuals	NA	11q25	OPCML	rs9787796-T	0.152	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
1596	chr11	132568254	132568255	rs2917569	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q25	NR	rs2917569-T	NR	4E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1596	chr11	132584118	132584119	rs1793257	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Alcohol dependence	7,188 European ancestry individuals	NA	11q25	OPCML	rs1793257-A	0.037	7E-6		0.83	[NR] unit increase	Illumina [527829]	N
1596	chr11	132641745	132641746	rs10894604	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist-hip ratio	up to 19,744 African American individuals	Up to 7,606 African American individuals	11q25	OPCML	rs10894604-T	0.83	4E-7	(BMI_pooled)	0.06	[0.04-0.08] unit decrease	Affymetrix, Illumina [3200000] (imputed)	N
1598	chr11	132829861	132829862	rs1567127	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	11q25	OPCML	rs1567127-G	0.20	1E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1600	chr11	133039198	133039199	rs7104871	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	11q25	OPCML	rs7104871-?	NR	7E-8	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1600	chr11	133112762	133112763	rs4578395	26129866	Hu N	2015-06-30	Gut	Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.	Gastric cancer	2,350 East Asian ancestry cases, 2,708 East Asian ancestry controls	7,408  East Asian ancestry cases, 7,548  East Asian ancestry controls	11q25	OPCML	rs4578395-C	0.092	2E-6		1.19	[1.11-1.28]	Illumina [556896]	N
1600	chr11	133120936	133120937	rs2078454	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	11q25	NR	rs2078454-A	0.2094	6E-6		3.603	[NR] unit decrease	Illumina [1200000] (imputed)	N
1601	chr11	133256560	133256561	rs4245116	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption (cups per day)	91,462 European ancestry individuals	30,062 European ancestry individuals, 7,964 African American individuals	11q25	NR	rs4245116-T	NR	2E-6		0.03	[0.010-0.050] unit increase	Affymetrix, Illumina [2373958] (imputed)	N
1602	chr11	133392293	133392294	rs7117082	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	11q25	LOC100128095, OPCML	rs7117082-?	0.21	8E-9		2.7926	[2.04-3.81]	Illumina [859311]	N
1604	chr11	133566984	133566985	rs4397868	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	11q25	NR	rs4397868-?	NR	3E-7		0.4	[0.25-0.55] years decrease	Illumina [315418]	N
1605	chr11	133765366	133765367	rs329648	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	11q25	MIR4697	rs329648-T	0.354	1E-11		1.105	[1.08-1.13]	Illumina [7893274] (imputed)	N
1605	chr11	133800218	133800219	rs1682859	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q25	IGSF9B	rs1682859-C	0.48	1E-6	(Urinary free dopamine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
1605	chr11	133822568	133822569	rs75059851	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q25	NR	rs75059851-A	NR	7E-12		1.1	[NR]	Illumina [7158791] (imputed)	N
1605	chr11	133822568	133822569	rs75059851	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	11q25	IGSF9B	rs75059851-A	0.797	4E-11		1.091	[1.063-1.119]	Affymetrix, Illumina [9005918] (imputed)	N
1606	chr11	133824538	133824539	rs694424	26081443	Adkins DE	2015-06-17	Twin Res Hum Genet	Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood.	Longitudinal alcohol consumption	2,126 adolescents and early adults	NA	11q25	IGSF9B	rs694424-G	0.12	5E-7	(trajectory)	5.01	z-score decrease	Illumina [866099] (imputed)	N
1607	chr11	133981074	133981075	rs1267813	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q25	NR	rs1267813-G	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1608	chr11	134088681	134088682	rs1031381	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	11q25	NCAPD3	rs1031381-?	NR	6E-6	(F3)			Affymetrix [70897]	N
1608	chr11	134100498	134100499	rs11223731	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	11q25	VPS26B, NCAPD3	rs11223731-A	0.77	2E-6	(DWRT-dr)	0.1101	[0.065-0.155] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1608	chr11	134139779	134139780	rs478881	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q25	ACAD8	rs478881-A	0.141	7E-6	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
1608	chr11	134139779	134139780	rs478881	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	11q25	ACAD8	rs478881-A	0.141	7E-6	(Cystathionine )	0.03	[NR] umol/L increase	Illumina [899892]	N
1609	chr11	134247841	134247842	rs10894804	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	11q25	B3GAT1, LOC89944	rs10894804-A	0.53	5E-6	(CERAD-dr)	0.2826	[0.16-0.4] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1609	chr11	134265966	134265967	rs7928758	24277619	Quillen EE	2013-11-26	Am J Med Genet B Neuropsychiatr Genet	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Alcohol consumption (maxi-drinks)	272 Han Chinese ancestry individuals	NA	11q25	NR	rs7928758-?		3E-6		0.701	unit decrease	Illumina [247725]	N
1609	chr11	134296383	134296384	rs893949	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q25	NR	rs893949-C	NR	5E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1610	chr11	134477853	134477854	rs11825064	25562672	Byrne EM	2014-12-09	J Clin Psychiatry	Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.	Seasonality	3,269 European ancestry individuals	887 Old order Amish individuals	11q25	OTTHUMG00000165125	rs11825064-C	NR	2E-6		0.64	[0.39-0.89] unit increase	Affymetrix, Illumina [2354422] (imputed)	N
1611	chr11	134482465	134482466	rs1944866	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		11q25	intergenic	rs1944866-?	0.871	2E-6			[NR]	Affymetrix, Illumina [152234]	N
1611	chr11	134524448	134524449	rs11603151	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	11q25	NR	rs11603151-A	NR	7E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1611	chr11	134573809	134573810	rs11825685	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	11q25	NR	rs11825685-C	0.889723712633929	9E-6	(IGP36)	0.227	[0.13-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
1612	chr11	134626886	134626887	rs11223996	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		11q25	intergenic	rs11223996-?	0.143	7E-7			[NR]	Affymetrix, Illumina [152234]	N
1612	chr11	134738269	134738270	rs906628	24172245	Haga S	2013-10-31	J Hum Genet	A genome-wide association study of third molar agenesis in Japanese and Korean populations.	Tooth agenesis (mandibular third molar)	80 East Asian ancestry mandibular cases, 69 East Asian ancestry maxillary cases, 338 East Asian ancestry controls	NA	11q25	intergenic	rs906628-G		8E-6		4.35	[2.28-8.30]	Illumina [532105]	N
586	chr12	219987	219988	rs2011738	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	12p13.33	IQSEC3	rs2011738-G	NR	6E-6	(EA)	1.34	[0.71-1.97] unit increase	Affymetrix [~ 2300000] (imputed)	N
587	chr12	313838	313839	rs188610	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12p13.33	SLC6A12, IQSEC3, SLC6A13	rs188610-A	0.003	1E-6		11.49	[3.29-40.16]	Illumina [1556551]	N
587	chr12	320919	320920	rs499368	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p13.33	SLC6A12	rs499368-A	0.53	8E-13	(betaine)	0.019	[0.013-0.025] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
587	chr12	320919	320920	rs499368	23378610	Xie W	2013-02-01	Diabetes	Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.	Metabolite levels	1,004 European ancestry individuals	339 European ancestry individuals	12p13.33	SLC6A13, SLC6A12	rs499368-A	0.51	2E-10	(betaine)	0.36	[0.25-0.46] unit decrease	Affymetrix [909508] (imputed)	N
587	chr12	335921	335922	rs555044	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	12p13.33	SLC6A13	rs555044-A	0.43	1E-12	(Deoxycarnitine)	0.07	[NR] unit increase	Affymetrix [2341704] (imputed)	N
587	chr12	349297	349298	rs10774021	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	12p13.33	SLC6A13, JARID1A, SLC6A12	rs10774021-C	0.36	1E-9	(eGFRcrea)	1.05	[0.006-0.010] ml/min/1.73 m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
587	chr12	351466	351467	rs11613331	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p13.33	SLC6A13	rs11613331-A	0.55	2E-25	(pyroglutamine)	0.037	[0.029-0.045] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
587	chr12	355841	355842	rs7969761	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	12p13.33	SLC6A13	rs7969761-T	0.56	1E-27	(betaine/pyroglutamine)	0.045	[0.037-0.053] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
589	chr12	551549	551550	rs1048466	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	12p13.33	CCDC77	rs1048466-G	0.72	8E-8		1.22	[1.14-1.32]	Affymetrix [~ 2000000] (imputed)	N
589	chr12	576983	576984	rs11612228	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12p13.33	B4GALNT3	rs11612228-T	0.378	7E-10		0.02	[0.014-0.026] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
590	chr12	783483	783484	rs12425791	19369658	Ikram MA	2009-04-15	N Engl J Med	Genomewide association studies of stroke.	Stroke	1,164 European ancestry ischemic cases, 380 European ancestry cases, 18,058 European ancestry controls	259 African American ancestry ischemic cases, 41 African American ancestry cases, 2,704 African American ancestry controls, 652 European ancestry ischemic cases, 3,613 European ancestry controls	12p13.33	NINJ2, WNK1	rs12425791-A	0.23	8E-10		1.26	[NR]	Affymetrix, Illumina [2194468] (imputed)	N
590	chr12	783483	783484	rs12425791	19369658	Ikram MA	2009-04-15	N Engl J Med	Genomewide association studies of stroke.	Stroke	1,164 European ancestry ischemic cases, 380 European ancestry cases, 18,058 European ancestry controls	259 African American ancestry ischemic cases, 41 African American ancestry cases, 2,704 African American ancestry controls, 652 European ancestry ischemic cases, 3,613 European ancestry controls	12p13.33	NINJ2, WNK1	rs12425791-A	0.23	2E-9	(ischemic stroke, EA)	1.29	[NR]	Affymetrix, Illumina [2194468] (imputed)	N
590	chr12	783483	783484	rs12425791	19369658	Ikram MA	2009-04-15	N Engl J Med	Genomewide association studies of stroke.	Stroke	1,164 European ancestry ischemic cases, 380 European ancestry cases, 18,058 European ancestry controls	259 African American ancestry ischemic cases, 41 African American ancestry cases, 2,704 African American ancestry controls, 652 European ancestry ischemic cases, 3,613 European ancestry controls	12p13.33	NINJ2, WNK1	rs12425791-A	0.23	1E-9	(ischemic stroke)	1.29	[NR]	Affymetrix, Illumina [2194468] (imputed)	N
590	chr12	783483	783484	rs12425791	19369658	Ikram MA	2009-04-15	N Engl J Med	Genomewide association studies of stroke.	Stroke	1,164 European ancestry ischemic cases, 380 European ancestry cases, 18,058 European ancestry controls	259 African American ancestry ischemic cases, 41 African American ancestry cases, 2,704 African American ancestry controls, 652 European ancestry ischemic cases, 3,613 European ancestry controls	12p13.33	NINJ2, WNK1	rs12425791-A	0.23	1E-9	(EA)	1.27	[NR]	Affymetrix, Illumina [2194468] (imputed)	N
591	chr12	800833	800834	rs145863439	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12p13.33	NR	rs145863439-?	NR	2E-7	(Japanese)	0.9962	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
592	chr12	939479	939480	rs11611246	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12p13.33	WNK1	rs11611246-T	0.203	6E-6	(EA, men)	0.024	[0.014-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
592	chr12	939479	939480	rs11611246	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12p13.33	WNK1	rs11611246-T	0.202	2E-7	(EA)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
592	chr12	939479	939480	rs11611246	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12p13.33	WNK1	rs11611246-T	0.201	2E-7		0.02	[0.013-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
592	chr12	975947	975948	rs12309274	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	12p13.33	NR	rs12309274-T	0.85	3E-6	(East Asian)	1.11	[1.06-1.16]	Affymetrix, Illumina [2400000] (imputed)	N
593	chr12	1064437	1064438	rs10849605	22899653	Timofeeva MN	2012-08-16	Hum Mol Genet	Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.	Lung cancer	up to 14,900 European ancestry cases, up to 29,485 European ancestry controls	2,338 Han Chinese ancestry cases, 3,077 Han Chinese ancestry controls	12p13.33	RAD52	rs10849605-?	0.51	6E-7		1.08	[1.04-1.11]	Illumina [up to 536008]	N
597	chr12	1638170	1638171	rs2887571	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	12p13.33	ERC1	rs2887571-A	0.76	6E-12	(LSBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
599	chr12	1856952	1856953	rs12230440	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	12p13.33	ADIPOR2	rs12230440-?	NR	3E-6	(PHT)			Illumina [NR]	N
599	chr12	1902163	1902164	rs2286379	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	12p13.33	CACNA2D4	rs2286379-?		2E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
599	chr12	1911859	1911860	rs12580035	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	12p13.33	ADIPOR2, CACNA2D4	rs12580035-C	0.81	5E-6	(women)	0.087	[0.05-0.124] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
599	chr12	1934580	1934581	rs2887631	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	12p13.33	NR	rs2887631-G	0.275	4E-6	(Illicit drug use)			Illumina [527829]	N
600	chr12	1987244	1987245	rs7308134	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12p13.33	NR	rs7308134-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
600	chr12	2056362	2056363	rs10505725	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p13.33	DCP1B	rs10505725-A	0.28	8E-6	(IGF1 free )	0.03	[NR] ng/mL increase	Illumina [899892]	N
600	chr12	2091256	2091257	rs11062040	22142827	Innocenti F	2011-12-05	Clin Cancer Res	A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.	Response to gemcitabine in pancreatic cancer	294 European ancestry cases	NA	12p13.33	DCP1B	rs11062040-A	NR	8E-6		1.4	[1.20-1.70]	Illumina [330690]	N
601	chr12	2135448	2135449	rs73044404	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12p13.33	NR	rs73044404-G	NR	5E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
602	chr12	2344959	2344960	rs2007044	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12p13.33	NR	rs2007044-G	NR	1E-17		1.098901	[NR]	Illumina [7158791] (imputed)	N
602	chr12	2344959	2344960	rs2007044	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	12p13.33	CACNA1C	rs2007044-G	0.376	3E-18		1.0964912	[1.07-1.12]	Affymetrix, Illumina [9005918] (imputed)	N
602	chr12	2345294	2345295	rs1006737	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	12p13.33	CACNA1C	rs1006737-?	NR	7E-8	(BP vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
602	chr12	2345294	2345295	rs1006737	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	12p13.33	CACNA1C	rs1006737-?	NR	2E-6	(SCZ vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
602	chr12	2345294	2345295	rs1006737	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	12p13.33	CACNA1C	rs1006737-?		6E-13	(SCZ or BP vs. controls)			Affymetrix, Illumina [~ 1100000] (imputed)	N
602	chr12	2345294	2345295	rs1006737	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	12p13.33	CACNA1C	rs1006737-A	0.332	5E-12		1.103	[1.08-1.13]	Affymetrix, Illumina [9871789]	N
602	chr12	2345294	2345295	rs1006737	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	12p13.33	DCP1B, CACNA1C	rs1006737-?	NR	5E-9	(5 degree of freedom test)	1.071	[1.05-1.10]	NR [1252901] (imputed)	N
602	chr12	2345294	2345295	rs1006737	20351715	Liu Y	2010-03-30	Mol Psychiatry	Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.	Bipolar disorder or major depressive disorder (combined)	4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls	NA	12p13.33	CACNA1C	rs1006737-?	NR	3E-8				Affymetrix, Perlegen [1472580] (imputed)	N
602	chr12	2345294	2345295	rs1006737	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	12p13.33	CACNA1C	rs1006737-A	0.32	7E-8		1.18	[NR]	Affymetrix [1769948] (imputed)	N
602	chr12	2349583	2349584	rs4765905	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	12p13.33	TCF4	rs17597926-?	NR	1E-7		1.36	[NR]	Affymetrix [745006]	N
602	chr12	2349583	2349584	rs4765905	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	12p13.33	CACNA1C	rs4765905-?	NR	2E-7		1.11	[NR]	Affymetrix [745006]	N
602	chr12	2349583	2349584	rs4765905	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	12p13.33	CACNA1C	rs4765905-?	NR	2E-6		1.08	[1.05-1.11]	Affymetrix, Illumina [1252901] (imputed)	N
603	chr12	2419895	2419896	rs4765913	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	12p13.33	CANCNA1C	rs4765913-A	NR	2E-8		1.14	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
604	chr12	2514111	2514112	rs12823424	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12p13.33	NR	rs12823424-A	NR	5E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
604	chr12	2523354	2523355	rs7312105	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	12p13.33	CACNA1C	rs7312105-G	0.36	3E-9	(EA, PCV)	0.104	[0.067-0.141] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
605	chr12	2684701	2684702	rs956451	25387708	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of acoustic startle eye blink and affectively modulated startle response: A genome-wide association study.	Acoustic startle blink response	3,323 European ancestry twins and their parents	NA	12p13.33	CACNA1C	rs956451-?	NR	8E-6	(Pleasant Difference Startle Scores)	0.105	[0.06-0.15] unit decrease	Illumina [527829]	N
605	chr12	2729631	2729632	rs216013	18535201	Cooper GM	2008-06-05	Blood	A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.	Warfarin maintenance dose	181 European ancestry individuals	374 European ancestry individuals	12p13.33	CACNA1C	rs216013-?	NR	9E-7				Illumina [538629]	N
605	chr12	2749126	2749127	rs216026	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	12p13.33	CACNA1C	rs216026-T	0.21	8E-6		0.067	[0.038-0.096] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
606	chr12	2783971	2783972	rs2302729	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep quality	2,315 European ancestry individuals	NA	12p13.33	CACNA1C	rs2302729-T	0.17	4E-6		0.17	[0.092-0.248] unit increase	Illumina [2380486] (imputed)	N
606	chr12	2789220	2789221	rs3794288	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	12p13.33	CACNA1C	rs3794288-?	NR	6E-6		1.566	[0.92-2.21] unit decrease	Illumina [498648]	N
606	chr12	2882543	2882544	rs10848704	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	12p13.33	ENSG00000118975, FKBP4	rs10848704-C	0.35	2E-6	(TSH)	0.29	[NR] mIU/L decrease	Affymetrix [408775]	N
609	chr12	3164922	3164923	rs12425451	23496005	Luca G	2013-03-18	J Sleep Res	Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.	Narcolepsy with cataplexy	585 European ancestry cases	387 European ancestry cases	12p13.33	TEAD4	rs12425451-?	NR	2E-7	(Age cataplexy onset)	6.7866	[NR] unit decrease	NR [NR]	N
610	chr12	3287278	3287279	rs878962	23746317	Yamaguchi T	2013-05-23	Oral Dis	Genome-wide association study of degenerative bony changes of the temporomandibular joint.	Temporomandibular joint disorders	146 East Asian ancestry cases, 374 East Asian ancestry controls		12p13.33	TSPAN9	rs878962-C	NR	8E-6		1.89	[1.43-2.50]	Illumina [532935]	N
610	chr12	3327166	3327167	rs11062578	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	12p13.32	TSPAN9	rs11062578-?		3E-6				Illumina [859311]	N
613	chr12	3750127	3750128	rs4766152	21993531	Kuparinen T	2011-10-13	Genes Immun	Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.	Cytomegalovirus antibody response	1,485 European ancestry sero-postitive individuals, 648 European ancestry sero-negative individuals	NA	12p13.32	EFCAB4B	rs4766152-G	0.44	5E-6		0.223	[0.13-0.32] unit decrease	Illumina [546677]	N
613	chr12	3757547	3757548	rs887304	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	12p13.32	EFCAB4B	rs887304-A	0.31	8E-7		0.36	[NR] unit increase	Illumina [324623]	N
614	chr12	3814237	3814238	rs10848911	19478329	Aston KI	2009-05-28	J Androl	Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.	Male infertility	52 European ancestry oligozoospermic cases, 40 European ancestry non-obstructive azoospermic cases, 80 European ancestry controls	NA	12p13.32	EFCAB4B	rs10848911-?	0.11	4E-6	(azoospermia)			Illumina [314776]	N
614	chr12	3868167	3868168	rs10744625	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	12p13.32	EFCAB4B, PARP11	rs10744625-C	0.188	9E-6	(Carbohydrate)			Affymetrix [590000]	N
614	chr12	3868167	3868168	rs10744625	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	12p13.32	EFCAB4B, PARP11	rs10744625-C	0.188	8E-6	(Carbohydrate)			Affymetrix [590000]	N
614	chr12	3913426	3913427	rs2058350	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	12p13.32	PARP11	rs2058350-?	NR	8E-6	(PC1)			Illumina [up to 563855]	N
616	chr12	4118316	4118317	rs4238010	19107115	Muglia P	2008-12-23	Mol Psychiatry	Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts.	Major depressive disorder	1,359 European ancestry cases, 1,782 European ancestry controls	NA	12p13.32	CCND2	rs4238010-G	0.02	6E-6		1.72		Affymetrix, Illumina [494678] (imputed)	N
617	chr12	4305882	4305883	rs12827476	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p13.32	CCND2	rs12827476-A	0.452	9E-6	(IGF1 free )	0.03	[NR] ng/mL increase	Illumina [899892]	N
618	chr12	4332477	4332478	rs10849023	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	12p13.32	CCND2	rs10849023-C	0.79	8E-12	(EA, MCH)	0.008	[-0.00180-0.01780] unit decrease	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
618	chr12	4333918	4333919	rs11611647	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Red blood cell count	14,392 Japanese ancestry individuals	NA	12p13.32	CCND2	rs11611647-C	0.37	6E-9		0.071	[0.047-0.095] unit decrease	Illumina [561583]	N
618	chr12	4368351	4368352	rs10774214	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	12p13.32	CCND2	rs10774214-T	0.37	1E-10	(East Asian)	1.14	[1.09-1.18]	Affymetrix, Illumina [2400000] (imputed)	N
618	chr12	4368351	4368352	rs10774214	23263487	Jia WH	2012-12-23	Nat Genet	Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.	Colorectal cancer	2,098 East Asian ancestry cases, 5,749 East Asian ancestry controls	5,358 East Asian ancestry cases, 5,922 East Asian ancestry controls, 26,060 European ancestry individuals	12p13.32	C12orf5, CCND2, FGF6, RAD51AP1, FGF23, PARP11	rs10774214-T	0.379	3E-8		1.09	[1.06-1.13]	Affymetrix, Illumina [1636380] (imputed)	N
618	chr12	4368351	4368352	rs10774214	23263487	Jia WH	2012-12-23	Nat Genet	Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.	Colorectal cancer	2,098 East Asian ancestry cases, 5,749 East Asian ancestry controls	5,358 East Asian ancestry cases, 5,922 East Asian ancestry controls, 26,060 European ancestry individuals	12p13.32	C12orf5, CCND2, FGF6, RAD51AP1, FGF23, PARP11	rs10774214-T	0.352	5E-10	(East Asian)	1.17	[1.11-1.23]	Affymetrix, Illumina [1636380] (imputed)	N
618	chr12	4388270	4388271	rs3217810	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	12p13.32	CCND2	rs3217810-T	0.16	6E-8		1.2	[1.12-1.28]	Affymetrix, Illumina [2708280] (imputed)	N
618	chr12	4399969	4399970	rs3217869	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	12p13.32	CCND2	rs3217869-A	0.41	4E-6	(Tri-Tetra/cyclic antidepressants)			Affymetrix, Illumina [~ 2500000] (imputed)	N
618	chr12	4405388	4405389	rs3217901	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	12p13.32	CCND2	rs3217901-G	0.41	2E-6		1.0869565	[1.05-1.12]	Affymetrix, Illumina [~ 2500000] (imputed)	N
618	chr12	4405388	4405389	rs3217901	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	12p13.32	CCND2	rs3217901-G	0.41	3E-7		1.1	[1.06-1.14]	Affymetrix, Illumina [2708280] (imputed)	N
618	chr12	4416303	4416304	rs4625554	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	12p13.32	C12orf5, CCND2	rs4625554-G	0.2996789	9E-6	(% improvement - SSRI treated - 12 weeks)	0.1927	[0.11-0.28] unit increase	Affymetrix, Illumina [1200000] (imputed)	N
618	chr12	4425121	4425122	rs10849033	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	12p13.32	C12orf5	rs10849033-G	0.02	9E-6		2.55	[1.60-3.80]	Affymetrix [307944]	N
619	chr12	4523455	4523456	rs10849061	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	12p13.32	intergenic	rs10849061-?	0.5	2E-6		1.1	[1.06-1.15]	Affymetrix, Illumina [~ 2300000] (imputed)	N
619	chr12	4523455	4523456	rs10849061	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	12p13.32	intergenic	rs10849061-?	0.5	1E-6		1.14	[1.08-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
619	chr12	4523455	4523456	rs10849061	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	12p13.32	intergenic	rs10849061-?	0.5	2E-7		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
619	chr12	4533378	4533379	rs888468	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	12p13.32	FGF6	rs888468-?		5E-6				Affymetrix, Illumina [1348798]	N
620	chr12	4606167	4606168	rs2970818	20558539	Kestenbaum B	2010-06-17	J Am Soc Nephrol	Common genetic variants associate with serum phosphorus concentration.	Phosphorus levels	16,264 European ancestry individuals	5,444 individuals	12p13.32	FGF6, RAD51AP1, FGF23	rs2970818-A	0.09	4E-9		0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
620	chr12	4675217	4675218	rs2884670	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	12p13.32	DYRK4	rs2884670-?	NR	2E-7		1.28	[1.19-1.37]	Affymetrix, Illumina [NR] (imputed)	N
623	chr12	5058392	5058393	rs11063421	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12p13.32	NR	rs11063421-T	NR	5E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
624	chr12	5131552	5131553	rs16932667	23358156	Benyamin B	2013-01-29	Mol Psychiatry	Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.	Intelligence (childhood)	12,441 European ancestry children	5,548 European ancestry children	12p13.32	NR	rs16932667-T	0.66	8E-6		0.052	[0.028-0.076] unit increase	Affymetrix, Illumina [138093] (imputed)	N
624	chr12	5140483	5140484	rs12302829	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	12p13.32	intergenic	rs12302829-G	0.008	8E-6		0.35	[NR] unit decrease	Illumina [948658]	N
626	chr12	5393328	5393329	rs11615866	24974787	Meng W	2014-06-26	Eur J Pain	A genome-wide association study suggests an association of Chr8p21.3 (GFRA2) with diabetic neuropathic pain.	Neuropathic pain in type 2 diabetes	572 European ancestry cases, 2,491 European ancestry controls	NA	12p13.32	RP11-1038A11.3	rs11615866-T	0.12	1E-6		2.26	[NR]	Affymetrix, Illumina [6494962] (imputed)	N
628	chr12	5751341	5751342	rs2110166	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12p13.31	NR	rs2110166-C	0.983043627256318	6E-6	(IGP73)	0.562	[0.32-0.81] unit decrease	Illumina [~ 2500000] (imputed)	N
628	chr12	5751341	5751342	rs2110166	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12p13.31	NR	rs2110166-C	0.983043522563177	5E-6	(IGP52)	0.5673	[0.32-0.81] unit decrease	Illumina [~ 2500000] (imputed)	N
629	chr12	5767384	5767385	rs4930776	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	12p13.31	ANO2	rs4930776-?		3E-6				Illumina [5970354] (imputed)	N
629	chr12	5797100	5797101	rs12579350	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	12p13.31	TMEM16B	rs12579350-?	0.01	4E-9				Affymetrix [253903]	N
630	chr12	5981352	5981353	rs7307889	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p13.31	ANO2	rs7307889-A	0.026	3E-6	(Calorimeter activity )	0.04	[NR] counts/d increase	Illumina [899892]	N
630	chr12	6011489	6011490	rs117585797	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	12p13.31	ANO2	rs117585797-A	0.013	2E-8	(Oestradiol)	0.624	[NR] unit increase	Illumina [7879351] (imputed)	N
631	chr12	6115723	6115724	rs2532859	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12p13.31	NR	rs2532859-?	NR	2E-6	(EA)	0.2726	[0.16-0.38] unit decrease	Illumina [up to 11892802] (imputed)	N
631	chr12	6153513	6153514	rs1063857	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	12p13.31	VWF	rs1063856-?,rs1063857-?	NR	6E-7				Illumina [723716]	N
631	chr12	6153513	6153514	rs1063857	20231535	Smith NL	2010-03-15	Circulation	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	vWF levels	17,596 European ancestry individuals	Up to 7,604 European ancestry individuals	12p13.31	VWF	rs1063857-?	NR	2E-32		6.0	[3.2-8.8] unit increase	Affymetrix, Illumina [2742821] (imputed)	N
631	chr12	6153533	6153534	rs1063856	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	12p13.31	VWF	rs1063856-A	0.395	5E-16		0.12	[0.091-0.149] lU/dL decrease	Illumina [723716]	N
631	chr12	6153533	6153534	rs1063856	23267103	Desch KC	2012-12-24	Proc Natl Acad Sci U S A	Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.	Coagulation factor levels	3,250 European ancestry individuals, up to 212 individuals	NA	12p13.31	VWF	rs1063856-?,rs1063857-?	NR	6E-7				Illumina [723716]	N
631	chr12	6153533	6153534	rs1063856	20231535	Smith NL	2010-03-15	Circulation	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	Factor VIII levels	15,279 European ancestry individuals	up to 7,604 European ancestry individuals	12p13.31	VWF	rs1063856-?	NR	4E-9		2.6	[0.2-5.0] unit increase	Affymetrix, Illumina [2729294] (imputed)	N
632	chr12	6289218	6289219	rs1558324	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	12p13.31	CD9, VWF	rs1558324-A	NR	2E-21		0.01	[0.008-0.012] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
632	chr12	6291092	6291093	rs7342306	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	12p13.31	CD9, VWF	rs7342306-G	NR	4E-11		2.532	[1.78-3.28] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
633	chr12	6308522	6308523	rs3181157	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		12p13.31	CD9	rs3181157-A	0.10	4E-6		3.22	[1.96-5.29]	Illumina [518577]	N
633	chr12	6385726	6385727	rs10849432	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	12p13.31	PLEKHG6, TNFRSF1A, CD9	rs10849432-T	0.82	6E-10	(East Asian)	1.14	[1.09-1.18]	Affymetrix, Illumina [2400000] (imputed)	N
634	chr12	6435570	6435571	rs10849441	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p13.31	PLEKHG6	rs10849441-G	0.352	9E-6	(Urinary free dopamine: creatinine)	0.03	[NR] unit increase	Illumina [899892]	N
634	chr12	6440008	6440009	rs1800693	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	12p13.31	TNFRSF1A	rs1800693-G	NR	4E-14		1.12	[1.11-1.14]	Illumina [465434]	N
634	chr12	6440008	6440009	rs1800693	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	12p13.31	TNFRSF1A	rs1800693-C	0.40	2E-9		1.22	[1.14-1.30]	Illumina [507467]	N
634	chr12	6440008	6440009	rs1800693	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	12p13.31	TNFRSF1A	rs1800693-C	0.45	2E-11		1.2	[1.10-1.31]	Affymetrix, Illumina [~ 2560000] (imputed)	N
634	chr12	6442000	6442001	rs4149639	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)	83 Japanese ancestry cases, 370 Japanese ancestry controls	NA	12p13.31	TNFRSF1A	rs4149639-C	0.042	3E-7	(Allelic model)	4.443	[2.571-7.677]	Illumina [733202]	N
634	chr12	6442000	6442001	rs4149639	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)	184 Japanese ancestry cases, 459 Japanese ancestry controls	NA	12p13.31	TNFRSF1A	rs4149639-C	0.047	7E-6	(Allelic model)	2.763	[1.781-4.287]	Illumina [733202]	N
634	chr12	6442642	6442643	rs4149584	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	12p13.31	TNFRSF1A	rs4149584-T	0.022	5E-6		1.58	[1.15-2.17]	Affymetrix, Illumina [~ 2560000] (imputed)	N
634	chr12	6466080	6466081	rs3782724	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	12p13.31	SCNN1A	rs3782724-G	0.04	3E-7		1.47	[1.27-171]	Affymetrix [~ 2000000] (imputed)	N
634	chr12	6491124	6491125	rs7954567	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	12p13.31	CD27, TNFRSF1A, LTBR	rs7954567-A	0.3338	1E-9	(EA)	1.0857501	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
634	chr12	6502741	6502742	rs11616188	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	12p13.31	LTBR-TNFRSF1A	rs11616188-A	0.43	4E-12				Illumina [2223620] (imputed)	N
635	chr12	6580581	6580582	rs10492096	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	12p13.31	VAMP1	rs10492096-?	NR	3E-6	(ShaftZ1rf)			Affymetrix [70897]	N
635	chr12	6683286	6683287	rs1057510	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		12p13.31	CHD4	rs1057510-?	0.154	6E-6			[NR]	Affymetrix, Illumina [152234]	N
637	chr12	6938871	6938872	rs3741920	22437554	Major JM	2012-03-21	J Nutr	Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.	Response to Vitamin E supplementation	2,112 European ancestry individuals	NA	12p13.31	CD4, LEPREL2, GNB3	rs3741920-T	0.16	4E-6	(alpha-TOH)	0.04	[0.020-0.060] mg/L decrease	Illumina [549989]	N
638	chr12	7075881	7075882	rs2110073	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	12p13.31	PHB2, MBOAT5, PTPN6, C1S	rs2110073-T	0.09	3E-49	(OA)	0.28	[NR] unit decrease	Affymetrix [~ 2500000] (imputed)	N
639	chr12	7100972	7100973	rs12580543	25500335	Tintle NL	2014-12-02	Prostaglandins Leukot Essent Fatty Acids	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.	Red blood cell fatty acid levels	2,633 individuals	NA	12p13.31	MBOAT5, PHB2, PTPN6, C1S	rs12580543-C	0.06	3E-30	(LA)	0.21	[NR] unit increase	Affymetrix [~ 2500000] (imputed)	N
640	chr12	7266804	7266805	rs7294478	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	12p13.31	intergenic	rs7294478-G	0.5847	2E-6	(Case/control)	0.3434	[0.2-0.49] unit increase	Affymetrix, Illumina [NR] (imputed)	N
640	chr12	7266804	7266805	rs7294478	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	12p13.31	intergenic	rs7294478-G	0.5808	2E-6	(Ordinal)	0.2385	[0.14-0.34] unit increase	Affymetrix, Illumina [NR] (imputed)	N
640	chr12	7334812	7334813	rs7973719	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12p13.31	NR	rs7973719-C	0.487491611566485	4E-8	(IGP41)	0.1772	[0.11-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
640	chr12	7335216	7335217	rs12828421	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12p13.31	PEX5	rs12828421-C	0.513425077202543	9E-7	(IGP1)	0.1591	[0.096-0.223] unit decrease	Illumina [~ 2500000] (imputed)	N
643	chr12	7691133	7691134	rs7136716	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	12p13.31	CD163	rs7136716-G	0.39	3E-26	(CK)	0.165	[0.13-0.2] unit increase	Illumina [561583]	N
644	chr12	7855270	7855271	rs12307997	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	12p13.31	GDF3	rs12307997-G	0.22	6E-7	(AA-triglyceride response)	22.11	[13.41-30.81] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
653	chr12	8989915	8989916	rs11047510	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	12p13.31	NR	rs11047510-?	NR	3E-6		5.089	[3.04-7.14] unit decrease	Illumina [498648]	N
654	chr12	9082580	9082581	rs4883201	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	12p13.31	A2ML1, PHC1	rs4883201-G	0.12	2E-9		0.035	[NR] unit decrease	NR [NR] (imputed)	N
656	chr12	9371331	9371332	rs6487679	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (AST)	236 European ancestry cases	NA	12p13.31	PZP	rs6487679-G	0.16	1E-6		0.4	[NR] unit increase	Illumina [324623]	N
656	chr12	9380858	9380859	rs10771431	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	12p13.31	LOC642846, LOC728715	rs10771431-A	0.444	2E-6		0.073	[0.042-0.104] cup size decrease	Illumina [7422970] (imputed)	N
657	chr12	9463805	9463806	rs10771515	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p13.31	PZP	rs10771515-A	0.049	9E-6	(RQmax)	0.04	[NR] increase	Illumina [899892]	N
657	chr12	9546961	9546962	rs7397814	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12p13.31	NR	rs7397814-C	0.791488588340009	4E-6	(IGP67)	0.188	[0.11-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
660	chr12	9833627	9833628	rs3764021	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	12p13.31	NR	rs3764021-C	0.47	5E-8		1.57	[1.38-1.79]	Affymetrix [469557]	N
660	chr12	9855957	9855958	rs11052552	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	12p13.31	NR	rs11052552-G	0.49	7E-7		1.49	[1.28-1.73]	Affymetrix [469557]	N
660	chr12	9876090	9876091	rs10466829	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	12p13.31	CLECL1	rs10466829-A	NR	1E-8		1.09	[1.08-1.11]	Illumina [465434]	N
660	chr12	9910163	9910164	rs4763879	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	12p13.31	CD69	rs4763879-A	0.37	2E-11		1.09	[1.02-1.16]	Affymetrix, Illumina [841622] (imputed)	N
662	chr12	10170160	10170161	rs1054611	23834954	Kobayashi D	2013-07-08	Mol Pain	Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.	Sensory disturbances after bilateral sagittal split ramus osteotomy	Up to 105 individuals	Up to 200 individuals	12p13.2	CLEC12B	rs1054611-?	NR	6E-6	(Hypoesthesia, Recessive)			Illumina [243229]	N
662	chr12	10170726	10170727	rs11053548	24058526	Bhatnagar P	2013-09-13	PLoS One	Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.	Systolic blood pressure in sickle cell anemia	1617 African American cases	NA	12p13.2	CLEC12B	rs11053548-A	0.91	5E-6		2.12	[1.22-3.02] mmHg increase	Illumina [1019297] (imputed)	N
664	chr12	10471049	10471050	rs12303914	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	12p13.2	KLRA1	rs12303914-A	0.35	6E-6	(EA-triglyceride response)	20.39	[11.51-29.27] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
665	chr12	10521388	10521389	rs10743889	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p13.2	KLRK1	rs10743889-C	0.4	6E-6	(VO2max )	0.04	[NR] mL/min increase	Illumina [899892]	N
665	chr12	10560956	10560957	rs2617170	23291587	Kirino Y	2013-01-06	Nat Genet	Genome-wide association analysis identifies new susceptibility loci for Beh&#x000e7;et's disease and epistasis between HLA-B*51 and ERAP1.	Behcet's disease	435 Turkish uveitis cases, 780 Turkish without uveitis cases, 1,278 Turkish controls	355 Turkish uveitis cases, 483 Turkish without uveitis cases, 601 Turkish controls, up to 612 Japanese ancestry cases, up to 740 Japanese ancestry controls	12p13.2	KLRC4	rs2617170-T	0.63	1E-9		1.28	[1.18-1.39]	Illumina [779465] (imputed)	N
666	chr12	10721455	10721456	rs4763555	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	12p13.2	intergenic	rs4763555-?	NR	9E-6		0.0283	[0.016-0.041] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
670	chr12	11216314	11216315	rs2708377	23966204	Ledda M	2013-08-20	Hum Mol Genet	GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.	Bitter taste perception	503 Brazillian ancestry individuals	104 Brazillian ancestry individuals	12p13.2	Tas2R46	rs2708377-?	0.312	3E-8	(Caffeine)	0.11	[0.071-0.149] unit decrease	Illumina [~ 1000000]	N
671	chr12	11279091	11279092	rs1031391	23966204	Ledda M	2013-08-20	Hum Mol Genet	GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.	Bitter taste perception	503 Brazillian ancestry individuals	104 Brazillian ancestry individuals	12p13.2	Tas2R31, Tas2R43	rs1031391-?	NR	2E-19	(Quinine)	0.23	[0.18-0.28] unit increase	Illumina [~ 1000000]	N
673	chr12	11547531	11547532	rs2900174	22142827	Innocenti F	2011-12-05	Clin Cancer Res	A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.	Response to gemcitabine in pancreatic cancer	294 European ancestry cases	NA	12p13.2	PRB2	rs2900174-G	NR	1E-6		3.3	[2.00-5.50]	Illumina [330690]	N
673	chr12	11558876	11558877	rs71455379	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	12p13.2	PRB2	rs71455379-?	0.06	9E-6	(Age 20-60 years)	1.89	[1.43-2.5]	Affymetrix, Illumina [up to 17585496] (imputed)	N
673	chr12	11648417	11648418	rs2908835	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	12p13.2	AC007450.3	rs2908835-T	0.23	7E-6	(simple RT)	0.14	[0.08-0.20] unit increase	Illumina [~ 610000]	N
675	chr12	11855623	11855624	rs2187642	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	12p13.2	ETV6	rs2187642-A	0.39	2E-6		4.6	[2.64-6.56] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
675	chr12	11855772	11855773	rs2856321	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12p13.2	ETV6	rs2856321-A	0.639	8E-24		0.031	[0.025-0.037] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
675	chr12	11855772	11855773	rs2856321	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	12p13.2	ETV6	rs2856321-G	0.37	3E-11		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
675	chr12	11855772	11855773	rs2856321	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12p13.2	ETV6	rs2856321-A	0.64	5E-15		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
676	chr12	11942719	11942720	rs2856329	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second)	1,015 European ancestry individuals, 541 African American individuals	NA	12p13.2	NR	rs2856329-?		6E-6	(AA)			Illumina [up to 524000]	N
676	chr12	11962572	11962573	rs7314811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12p13.2	NR	rs7314811-C	0.35010278555506	4E-6	(IGP35)	0.1452	[0.083-0.207] unit decrease	Illumina [~ 2500000] (imputed)	N
679	chr12	12376464	12376465	rs11054731	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	12p13.2	LRP6	rs11054731-A	0.89	6E-6	(AA)	0.21	[0.11-0.31] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
680	chr12	12458664	12458665	rs11054786	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Tandem gait	2,946 individuals	NA	12p13.2	LRP6, MANSC1	rs11054786-T	0.9	1E-6		0.59	[0.35-0.83] unit increase	Illumina [6200000] (imputed)	N
681	chr12	12648842	12648843	rs11054935	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	12p13.2	NR	rs11054935-G	0.2756	6E-8	(EA)	1.0779562	[1.05-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
681	chr12	12648842	12648843	rs11054935	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	12p13.2	NR	rs11054935-G	0.2756	5E-6	(EA)	1.0518209	[1.03-1.07]	Affymetrix, Illumina [~ 9000000] (imputed)	N
681	chr12	12657512	12657513	rs11612508	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	12p13.2	LOH12CR1	rs11612508-G	0.267	1E-8		1.058	[1.025-1.091]	Affymetrix, Illumina [1230000] (imputed)	N
682	chr12	12729315	12729316	rs12302103	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	12p13.2	LOC644467	rs12302103-A	0.267	4E-6	(n-6 PUFA)			Affymetrix [590000]	N
682	chr12	12773520	12773521	rs12822507	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	12p13.1	CREBL2	rs12822507-A	0.57	2E-8		1.1628		Illumina [2100739] (imputed)	N
682	chr12	12834893	12834894	rs10845606	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	12p13.1	GPR19	rs10845606-C	0.71	4E-17		1.2658		Illumina [2100739] (imputed)	N
683	chr12	12870694	12870695	rs34330	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	12p13.1	CDKN1B	rs34330-C	0.52	5E-12		1.1905		Illumina [2100739] (imputed)	N
684	chr12	13075201	13075202	rs2111398	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	12p13.1	GPRC5A	rs2111398-G	0.43	3E-7		0.087	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
687	chr12	13452779	13452780	rs899435	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	12p13.1	EMP1	rs899435-A	0.56	9E-6	(AA)	0.15	[0.091-0.209] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
688	chr12	13519995	13519996	rs11055387	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	12p13.1	C12orf36	rs11055387-C	0.0895145	8E-6	(remission - SSRI treated - 12 weeks)	2.1853	[1.84-2.53]	Affymetrix, Illumina [1200000] (imputed)	N
688	chr12	13536145	13536146	rs78791096	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12p13.1	NR	rs78791096-?	NR	8E-6	(AA)	0.5516	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
688	chr12	13629380	13629381	rs1531228	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	12p13.1	NR	rs1531228-?	NR	9E-6	(Circumference)	0.2	[0.10-0.30] unit increase	Illumina [521744]	N
689	chr12	13641705	13641706	rs1457614	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	12p13.1	GRIN2B	rs1457614-C	0.181	8E-6	(remission - 12 weeks)	1.4652	[1.29-1.64]	Affymetrix, Illumina [1200000] (imputed)	N
689	chr12	13681477	13681478	rs117578877	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12p13.1	NR	rs117578877-T	NR	9E-7		1.15	[NR]	Illumina [7158791] (imputed)	N
690	chr12	13787845	13787846	rs2160519	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	12p13.1	GRIN2B	rs2160519-?	0.05946	2E-6	(IED)			Illumina [475971]	N
690	chr12	13872043	13872044	rs2268118	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	12p13.1	GRIN2B	rs2268118-A		1E-8	(EA)			Illumina [NR]	N
691	chr12	13923327	13923328	rs11055612	20197096	Stein JL	2010-03-01	Neuroimage	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.	Brain structure (temporal lobe volume)	173 European ancestry Alzheimer's disease cases, 361 European ancestry Mild Cognitive Impairment cases, 208 European ancestry controls	NA	12p13.1	GRIN2B	rs11055612-C	0.5	3E-6		3371.6	[NR] unit decrease	Illumina [546314]	N
691	chr12	13927895	13927896	rs6488619	22116950	Schuh-Huerta SM	2011-11-24	Hum Reprod	Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.	Ovarian reserve	232 European ancestry female individuals, 200 African American female individuals	NA	12p13.1	GRIN2B	rs6488619-?		9E-7	(FSH levels - EA)			Affymetrix [677261]	N
692	chr12	14064460	14064461	rs4764039	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	12p13.1	GRIN2B	rs4764039-?	NR	3E-6		0.005	[NR] unit increase	Illumina [478011]	N
692	chr12	14115481	14115482	rs4764043	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to event)	16,995 European ancestry individuals	NA	12p13.1	GRIN2B	rs4764043-T	0.08	6E-6		1.17	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
694	chr12	14410484	14410485	rs17221259	24143190	Low SK	2013-10-15	PLoS One	Genome-wide association study of breast cancer in the Japanese population.	Breast cancer	2,642 Japanese ancestry cases, 2,099 Japanese ancestry controls	2,885 Japanese ancestry cases, 3,395 Japanese ancestry controls	12p13.1	ATF7IP	rs17221259-G	0.204	7E-6		1.252	[1.136-1.381]	Illumina [5335291] (imputed)	N
694	chr12	14413930	14413931	rs12422552	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	12p13.1	intergenic	rs12422552-C	0.26	4E-8		1.05	[1.03-1.07]	Affymetrix, Illumina [~ 2600000] (imputed)	N
696	chr12	14587300	14587301	rs3213764	23359319	Jin G	2013-01-01	Neoplasia	Genome-wide association study identifies loci at ATF7IP and KLK2 associated with percentage of circulating free PSA.	Prostate-specific antigen levels	3,192 European ancestry individuals	1,722 European ancestry individuals	12p13.1	ATF7IP	rs3213764-G	0.467	2E-9		0.049	% increase	Illumina [642584]	N
696	chr12	14653866	14653867	rs2900333	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	12p13.1	ATF7IP	rs2900333-C	0.62	1E-13		1.32	[1.20-1.46]	Illumina [307291]	N
696	chr12	14653866	14653867	rs2900333	20543847	Turnbull C	2010-06-13	Nat Genet	Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.	Testicular germ cell cancer	979 European ancestry cases, 4,947 European ancestry controls	664 European ancestry cases, 3,456 European ancestry controls	12p13.1	ATF7IP	rs2900333-C	0.62	6E-10		1.27	[1.12-1.44]	Illumina [298782]	N
696	chr12	14660183	14660184	rs3827886	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	12p13.1	PLBD1	rs3827886-?	NR	7E-6	(SF9)			Affymetrix [5476100] (imputed)	N
699	chr12	14966603	14966604	rs4764124	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	12p12.3	C12orf60, HIST4H4	rs4764124-C	0.52	8E-7	(Single Height)	0.05	[0.03-0.07] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
702	chr12	15381209	15381210	rs12300553	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	12p12.3	RERG	rs12300553-G	0.67	7E-6	(women)	0.08	[0.045-0.115] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
702	chr12	15389636	15389637	rs12311304	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	12p12.3	NR	rs12311304-G	0.328	4E-6	(Alcohol dependence)			Illumina [527829]	N
705	chr12	15735441	15735442	rs2300290	22126837	LeBlanc M	2011-11-28	J Psychiatr Res	Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function.	Cognitive function	190 European ancestry schizophrenia cases, 157 European ancestry  bipolar disorder cases, 353 European ancestry controls	NA	12p12.3	PTPRO	rs2300290-?	NR	1E-8		1.1	[0.73-1.47] unit decrease	Affymetrix [550291]	N
706	chr12	15930804	15930805	rs17415853	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	12p12.3	EPS8	rs17415853-?	0.02	7E-7	(Ferritin)			Illumina [496032]	N
708	chr12	16179370	16179371	rs12423382	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	12p12.3	NR	rs12423382-?	NR	3E-6	(Japanese)	0.487	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
708	chr12	16189477	16189478	rs151326733	25027321	Hoffmann TJ	2014-07-15	Hum Mol Genet	Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.	Glaucoma	658 African American prevalent cases, 1,062 African American incident cases, 6,067 African American controls, 153 Hispanic prevalent cases, 336 Hispanic incident cases, 2,685 Hispanic controls	NA	12p12.3	NR	rs151326733-C	0.026	2E-8	(AA, prevalent)	2.2	[1.67-2.89]	Affymetrix [up to 15784307] (imputed)	N
710	chr12	16406689	16406690	rs10772915	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12p12.3	MGST1	rs10772915-G	0.57	5E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
711	chr12	16519262	16519263	rs9332958	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12p12.3	NR	rs9332958-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
711	chr12	16609037	16609038	rs10772939	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	12p12.3	intergenic	rs10772939-T	NR	5E-6	(Economic policy)	0.112	[0.065-0.159] unit decrease	Illumina [628922]	N
712	chr12	16699249	16699250	rs74377925	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12p12.3	intergenic	rs74377925-G	0.013	2E-6		5.34	[2.48-11.51]	Illumina [1556551]	N
717	chr12	17362815	17362816	rs1513049	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		12p12.3	intergenic	rs1513049-?	NR	7E-6				Illumina [~ 2400000] (imputed)	N
717	chr12	17373738	17373739	rs9971637	19734901	van Es MA	2009-09-06	Nat Genet	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	2,323 European ancestry cases, 9,013 European ancestry controls	2,532 European ancestry cases, 5,940 European ancestry controls	12p12.3	NR	rs9971637-?	0.05	2E-6		1.48	[NR]	Illumina [292768]	N
718	chr12	17444732	17444733	rs2965667	25781442	Nan H	2015-03-17	JAMA	Association of aspirin and NSAID use with risk of colorectal cancer according to genetic variants.	Colorectal cancer (aspirin and/or NSAID use interaction)	8,634 European ancestry cases, 8,553 European ancestry controls	NA	12p12.3	MGST1, PIK3C2G	rs2965667-?	NR	5E-9				Affymetrix, Illumina [2700000] (imputed)	N
719	chr12	17639950	17639951	rs10219673	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12p12.3	NR	rs10219673-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
719	chr12	17662234	17662235	rs1706631	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	12p12.3	intergenic	rs1706631-T	0.408	6E-6	(partial response - 2 weeks)	1.3548	[1.22-1.49]	Affymetrix, Illumina [1200000] (imputed)	N
720	chr12	17728990	17728991	rs1186300	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12p12.3	NR	rs1186300-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
726	chr12	18508251	18508252	rs11044045	24086445	Wang Q	2013-09-24	PLoS One	Genome-wide association analysis with gray matter volume as a quantitative phenotype in first-episode treatment-na&#x000ef;ve patients with schizophrenia.	Gray matter volume (schizophrenia interaction)	74 Han Chinese ancestry cases, 51 Han Chinese ancestry controls	NA	12p12.3	PIK3C2G	rs11044045-?	NR	3E-6		0.0445	[NR] unit decrease	NR [1983054] (imputed)	N
728	chr12	18779258	18779259	rs10841048	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	12p12.3	PIK3C2G	rs10841048-?	NR	6E-7		0.71	[0.44-0.98] unit increase	Illumina [1075436] (imputed)	N
730	chr12	19024557	19024558	rs12319113	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12p12.3	NR	rs12319113-?	NR	5E-7				Affymetrix [5486770] (imputed)	N
730	chr12	19024557	19024558	rs12319113	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	12p12.3	NR	rs12319113-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
730	chr12	19052179	19052180	rs1873386	23903073	Kim HN	2013-08-01	J Hum Genet	Genome-wide association study of the five-factor model of personality in young Korean women.	Personality dimensions	1,089 Korean ancestry females	2,090 Korean ancestry individuals	12p12.3	CAPZA3	rs1873386-A		8E-6	(Conscientiousness)	0.03	[-0.0288-0.0888] unit decrease	Illumina [2053685] (imputed)	N
731	chr12	19193530	19193531	rs11829119	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio)	Up to 185 European ancestry cases	NA	12p12.3	PLEKHA5	rs11829119-C	0.063	1E-7		0.4991	[NR] unit decrease	Affymetrix [686595]	N
733	chr12	19521638	19521639	rs143970033	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12p12.3	NR	rs143970033-?	NR	9E-8	(Native Hawaiian)	1.0142	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
735	chr12	19779792	19779793	rs10841287	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p12.3	AEBP2	rs10841287-G	0.165	2E-6	(Sedentary&light activity )	0.03	[NR] min/d increase	Illumina [899892]	N
736	chr12	19795905	19795906	rs11044734	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	12p12.3	intergenic	rs11044734-G	0.9	7E-6		0.112	unit increase	Illumina [~ 6300000] (imputed)	N
736	chr12	19801594	19801595	rs6486986	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	12p12.3	AC090059.9	rs6486986-?	0.2253	8E-6	(SWM strategy)			Illumina [475971]	N
736	chr12	19801752	19801753	rs11044737	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	12p12.3	intergenic	rs11044737-G	0.9	8E-6		0.112	unit increase	Illumina [~ 6300000] (imputed)	N
736	chr12	19866128	19866129	rs4762767	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	12p12.3	AEBP2	rs4762767-G	NR	8E-6	(FEV1/FVC)	0.027	[0.015-0.039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
737	chr12	19927799	19927800	rs2731620	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		12p12.3	intergenic	rs2731620-?	NR	7E-6		1.59	[NR]	Illumina [up to 810372] (imputed)	N
738	chr12	20063967	20063968	rs10841397	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	12p12.2	intergenic	rs10841397-?	NR	9E-6	(SF6)			Affymetrix [5476100] (imputed)	N
738	chr12	20081334	20081335	rs11044946	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12p12.2	NR	rs11044946-T	NR	8E-6		1.1	[NR]	Illumina [7158791] (imputed)	N
738	chr12	20184145	20184146	rs11045000	25064007	Nakajima M	2014-07-27	Nat Genet	A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.	Ossification of the posterior longitudinal ligament of the spine	1,112 Japanese ancestry cases, 6,810 Japanese ancestry controls	548 Japanese ancestry cases, 6,469 Japanese ancestry controls	12p12.2	LOC100506393	rs11045000-A	0.46	3E-11		1.28	[1.19-1.38]	Illumina [5163786] (imputed)	N
739	chr12	20230638	20230639	rs10770612	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Aortic root size	12,612 European ancestry individuals	4,094 European ancestry individuals	12p12.2	PDE3A	rs10770612-G	0.19	2E-8		0.03	[0.02-0.04] cm increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
741	chr12	20473757	20473758	rs7134375	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	12p12.2	PDE3A	rs7134375-A	0.43	1E-8		0.021	[NR] unit increase	NR [NR] (imputed)	N
741	chr12	20473757	20473758	rs7134375	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	12p12.2	PDE3A	rs7134375-A	0.42	4E-8		0.4	[0.24-0.56] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
741	chr12	20498035	20498036	rs7955516	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	12p12.2	PDE3A	rs7955516-C	0.40	4E-8		0.02	[0.012-0.028] unit increase	Affymetrix, Illumina [NR] (imputed)	N
741	chr12	20521653	20521654	rs10841496	19478329	Aston KI	2009-05-28	J Androl	Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.	Male infertility	52 European ancestry oligozoospermic cases, 40 European ancestry non-obstructive azoospermic cases, 80 European ancestry controls	NA	12p12.2	PDE3A	rs10841496-?	0.58	5E-7	(azoospermia)			Illumina [314776]	N
741	chr12	20531755	20531756	rs1348582	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	12p12.2	PDE3A	rs1348582-G	0.18	1E-6		0.2	[0.12-0.28] unit increase	Illumina [~ 318327]	N
741	chr12	20536370	20536371	rs4326884	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	12p12.2	PDE3A	rs4326884-?		8E-7				NR [~ 3000000] (imputed)	N
742	chr12	20599111	20599112	rs10841530	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	12p12.2	PDE3A	rs10841530-G	0.56	6E-7	(drinks/week)	0.155	[0.098-0.212] unit increase	Affymetrix [2500000] (imputed)	N
743	chr12	20758612	20758613	rs11611208	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	12p12.2	SLCO1B3, PDE3A, SLCO1C1	rs11611208-A	0.06	2E-6		11.4	[6.7-16.1] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
744	chr12	20840838	20840839	rs11045392	22569225	Krintel SB	2012-05-06	Pharmacogenet Genomics	Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis.	Response to TNF-alpha inhibitors in rheumatoid arthritis	196 European ancestry cases	NA	12p12.2	PDE3A	rs11045392-?	NR	2E-6	(EULAR response)	3.3	[1.90-5.60]	Illumina [486450]	N
744	chr12	20857466	20857467	rs10770705	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12p12.2	SLCO1C1	rs10770705-A	0.338	2E-21		0.03	[0.024-0.036] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
744	chr12	20857466	20857467	rs10770705	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12p12.2	SLCO1C1	rs10770705-A	0.33	8E-18		0.033	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
744	chr12	20860092	20860093	rs3794271	22569225	Krintel SB	2012-05-06	Pharmacogenet Genomics	Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis.	Response to TNF-alpha inhibitors in rheumatoid arthritis	196 European ancestry cases	NA	12p12.2	SLCO1C1	rs3794271-?	NR	4E-6	(EULAR response)	3.2	[1.90-5.50]	Illumina [486450]	N
745	chr12	21017874	21017875	rs2417940	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	12p12.2	SLCO1B3	rs2417940-?	0.16	7E-19	(Total bilirubin)	0.059	[0.045-0.073] unit increase	Affymetrix [658288] (imputed)	N
745	chr12	21017874	21017875	rs2417940	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	12p12.2	SLCO1B3	rs2417940-?	0.16	5E-13	(Indirect bilirubin)	0.056	[0.04-0.072] unit increase	Affymetrix [658288] (imputed)	N
745	chr12	21017874	21017875	rs2417940	23371916	Dai X	2013-01-31	Genet Epidemiol	A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.	Bilirubin levels	1,452 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	12p12.2	SLCO1B3	rs2417940-?	0.16	2E-16	(Direct bilirubin)	0.074	[0.056-0.092] unit increase	Affymetrix [658288] (imputed)	N
745	chr12	21017874	21017875	rs2417940	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	12p12.2	SLCO1B3, LST3	rs2417940-?	0.207	2E-17		0.048	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
745	chr12	21074121	21074122	rs2117032	19419973	Sanna S	2009-05-06	Hum Mol Genet	Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.	Bilirubin levels	4,300 Sardinian individuals	1,860 Sardinian individuals, 832 Old Order Amish individuals	12p12.2	SLCO1B3	rs2117032-C	0.47	3E-14		0.13	[0.08-0.18] s.d. increase	Affymetrix [362129]	N
747	chr12	21291560	21291561	rs4149018	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	12p12.1	SLCO1B1	rs4149018-?	NR	1E-7				Affymetrix [5486770] (imputed)	N
747	chr12	21321369	21321370	rs10841753	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	12p12.1	SLCO1B1	rs10841753-T	0.19	7E-6		7.1	[4.0-10.2] mL/min/m2 decrease	Affymetrix [398699]	N
747	chr12	21329760	21329761	rs11045818	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	12p12.1	SLCO1B1	rs11045818-G	0.14	7E-7		9.3	[5.7-12.9] mL/min/m2 decrease	Affymetrix [398699]	N
747	chr12	21331548	21331549	rs4149056	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	12p12.1	SLCO1B1	rs4149056-T	0.82	6E-328	(isoleucine/X-11529)	0.3	[0.28-0.32] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21331548	21331549	rs4149056	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs4149056-T	0.84	3E-18	(1-arachidonoylglycerophosphoethanolamine)	0.029	[0.023-0.035] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21331548	21331549	rs4149056	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs4149056-T	0.84	1E-73	(X-12063)	0.118	[0.1-0.13] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21331548	21331549	rs4149056	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs4149056-T	0.84	1E-18	(4-androsten-3beta,17beta-diol disulfate 2)	0.049	[0.037-0.061] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21331548	21331549	rs4149056	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs4149056-T	0.83	9E-44	(X-12456)	0.081	[0.069-0.093] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21331548	21331549	rs4149056	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs4149056-T	0.83	3E-32	(X-11491)	0.088	[0.072-0.104] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21331548	21331549	rs4149056	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs4149056-T	0.82	6E-315	(X-11529)	0.295	[0.28-0.31] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21331548	21331549	rs4149056	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	12p12.1	SLCO1B1	rs4149056-T	0.82	2E-8	(Men + Women)	0.029	[0.019-0.039] umol/L increase	Affymetrix, Illumina [2543887] (imputed)	N
747	chr12	21331548	21331549	rs4149056	19414484	Johnson AD	2009-05-04	Hum Mol Genet	Genome-wide association meta-analysis for total serum bilirubin levels.	Bilirubin levels	9,464 individuals	NA	12p12.1	LST-3TM12, SLCO1B1, SLCO1A2	rs4149056-C	0.15	7E-13		0.05	[0.03-0.07] umol/l increase in log(tbil)	Affymetrix, Illumina [2555103] (imputed)	N
747	chr12	21331548	21331549	rs4149056	18650507	Link E	2008-07-23	N Engl J Med	SLCO1B1 variants and statin-induced myopathy--a genomewide study.	Response to statin therapy	85 European ancestry cases, 90 European ancestry controls	21 European ancestry cases, 16,643 European ancestry controls	12p12.1	SLCO1B1	rs4149056-C	0.13	2E-9		4.5	[2.60-7.70]	Illumina [316184]	N
747	chr12	21352314	21352315	rs1871395	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs1871395-A	0.84	4E-31	(1-arachidonoylglycerophosphoinositol)	0.04	[0.034-0.046] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21352314	21352315	rs1871395	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs1871395-A	0.84	1E-89	(X-11538)	0.11	[0.098-0.122] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21352314	21352315	rs1871395	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs1871395-A	0.83	2E-52	(hexadecanedioate)	0.089	[0.077-0.101] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21352540	21352541	rs12317268	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs12317268-A	0.84	2E-45	(X-14626)	0.054	[0.046-0.062] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21352540	21352541	rs12317268	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs12317268-A	0.83	4E-60	(tetradecanedioate)	0.101	[0.089-0.113] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
747	chr12	21352540	21352541	rs12317268	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs12317268-A	0.83	2E-67	(X-13429)	0.138	[0.12-0.15] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
748	chr12	21368721	21368722	rs4363657	25898920	Korostishevsky M	2015-04-22	Eur J Hum Genet	Genomics and metabolomics of muscular mass in community-based sample of UK females.	Blood metabolite levels	3,953 European ancestry individuals	NA	12p12.1	NR	rs4363657-?	NR	9E-46	(X12063 levels)			Illumina [2300000]	N
748	chr12	21368721	21368722	rs4363657	21646302	Bielinski SJ	2011-06-06	Mayo Clin Proc	Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.	Bilirubin levels	6,307 European ancestry individuals	NA	12p12.1	SLCO1B1	rs4363657-?	0.17	5E-8		0.064	[0.04-0.08] mg/dL increase	Illumina [583129]	N
748	chr12	21377558	21377559	rs4149080	23233662	Ramsey LB	2012-12-11	Blood	Genome-wide study of methotrexate clearance replicates SLCO1B1.	Methotrexate clearance (acute lymphoblastic leukemia)	22 East Asian ancestry cases, 58 African ancestry, African American or Afro-Caribbean cases, 266 Hispanic or Latin American cases, 806 European ancestry cases, 127 cases	699 European ancestry cases	12p12.1	SLCO1B1	rs4149080-C	0.18	6E-21		12.0	[NR] mL/min/m2 decrease	Affymetrix [~ 5200000] (imputed)	N
748	chr12	21378020	21378021	rs4149081	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	12p12.1	SLCO1B1	rs4149081-A	0.205	3E-22	(SM-10 + 59 other traits)	0.209	[NR] unit decrease	Affymetrix, Illumina [534665]	N
748	chr12	21382618	21382619	rs11045879	23281178	Hong MG	2013-03-01	Hum Mutat	A genome-wide assessment of variability in human serum metabolism.	Metabolite levels	214 European ancestry prostate cancer cases, 188 European ancestry controls	489 European ancestry prostate cancer cases	12p12.1	SLCO1B1	rs11045879-C	NR	5E-15	(Glycochenodeoxycholic acid 3-glucuronide)			Affymetrix [333722]	N
748	chr12	21382618	21382619	rs11045879	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	12p12.1	SLCO1B1	rs11045879-T	0.16	8E-11		1.8	[7.6-14.0] mL/min/m2 increase	Affymetrix [398699]	N
748	chr12	21388620	21388621	rs12829704	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12p12.1	SLCO1B1	rs12829704-A	0.19	9E-21	(octadecanedioate)	0.042	[0.032-0.052] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
748	chr12	21402978	21402979	rs113681054	25935875	Varenhorst C	2015-05-02	Eur Heart J	Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.	AR-C124910XX levels in individuals with acute coronary syndromes treated with ticagrelor	1,794 European ancestry cases, 18 African and Asian ancestry cases	1,922 European ancestry cases, 19 African and Asian ancestry cases	12p12.1	SLCO1A2, SLCO1B1	rs113681054-T	0.184	4E-13		0.062	[0.044-0.08] unit increase	Illumina [10962468] (imputed)	N
748	chr12	21428370	21428371	rs3764044	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12p12.1	SLCO1A2, SLCO1B1, IAPP	rs3764044-G	0.03	7E-6		3.68	[2.01-6.74]	Illumina [1556551]	N
748	chr12	21451394	21451395	rs16923647	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	12p12.1	SLCO1A2	rs16923647-T	0.1	2E-6			[NR]	Affymetrix [398699]	N
748	chr12	21457433	21457434	rs11568563	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	12p12.1	SLCO1A2	rs11568563-?	0.95	7E-8		1.47	[1.28-1.69]	Illumina [531451]	N
752	chr12	21993477	21993478	rs704178	24770881	Nelson PT	2014-04-27	Acta Neuropathol	ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.	Hippocampal sclerosis of aging	241 cases, 1,998 controls	122 cases, 305 controls	12p12.1	ABCC9	rs704178-G	0.49	1E-9	(recessive)	2.133	[1.669-2.726]	NR [4913579] (imputed)	N
752	chr12	21996044	21996045	rs11046207	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p12.1	ABCC9	rs11046207-G	0.023	5E-6	(Sedentary activity )	0.04	[NR] min/d increase	Illumina [899892]	N
754	chr12	22151572	22151573	rs10743430	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Entorhinal cortical thickness	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	12p12.1	CMAS	rs10743430-?	NR	6E-7		0.218	[NR] unit decrease	Illumina [478011]	N
755	chr12	22365834	22365835	rs2216228	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	12p12.1	ST8SIA1	rs2216228-G	0.18	4E-6		0.45	[NR] unit increase	Illumina [324623]	N
757	chr12	22566428	22566429	rs11046430	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	12p12.1	SLC2A13	rs11046430-T	0.12	4E-6	(AA)	0.21	[0.13-0.29] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
765	chr12	23639916	23639917	rs2120771	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	12p12.1	intergenic	rs2120771-G	NR	3E-6		0.107	[0.062-0.152] unit decrease	Illumina [628922]	N
765	chr12	23640478	23640479	rs7303433	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12p12.1	NR	rs7303433-G	NR	3E-6		1.1111112	[NR]	Illumina [7158791] (imputed)	N
767	chr12	23946145	23946146	rs11047102	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	12p12.1	SOX5	rs11047102-?	0.10	5E-6	(IcSSc)	1.24	[1.13-1.35]	Illumina [NR] (imputed)	N
767	chr12	23946145	23946146	rs11047102	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	12p12.1	SOX5	rs11047102-?	0.10	1E-7	(ACA positive)	1.36	[1.21-1.52]	Illumina [NR] (imputed)	N
768	chr12	24006405	24006406	rs16926789	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	12p12.1	SOX5	rs16926789-A	0.894622222	8E-6		0.05099356	[0.029-0.073] unit decrease	Illumina [1632371] (imputed)	N
768	chr12	24075507	24075508	rs7970953	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12p12.1	SOX5	rs7970953-A	0.299	6E-6	(EA)	0.015	[0.0086-0.0216] kg/m2 increase	Affymetrix, Illumina [2550021]	N
768	chr12	24077508	24077509	rs17399946	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	12p12.1	SOX5	rs17399946-?	NR	7E-6				Perlegen [1871025] (imputed)	N
768	chr12	24107596	24107597	rs7314326	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12p12.1	NR	rs7314326-A	NR	1E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
769	chr12	24184543	24184544	rs10842262	22197933	Hu Z	2011-12-25	Nat Genet	A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.	Non-obstructive azoospermia	981 Han Chinese ancestry cases, 1,657 Han Chinese ancestry controls	1,946 Han Chinese ancestry cases, 4,077 Han Chinese ancestry controls	12p12.1	SOX5	rs10842262-?	NR	2E-9		1.23	[1.15-1.32]	Affymetrix [587347]	N
770	chr12	24278820	24278821	rs7979575	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	12p12.1	FLJ32894, BCAT1, SOX5	rs7979575-C	0.16	2E-6	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
771	chr12	24389659	24389660	rs1464500	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	12p12.1	SOX5	rs1464500-?	0.232	1E-7	(perphenazine-HDL)			Affymetrix [492900]	N
771	chr12	24394371	24394372	rs1522232	19754311	Le Clerc S	2009-09-15	J Infect Dis	Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).	AIDS	85 European ancestry cases, 2,049 European ancestry controls	NA	12p12.1	SOX5	rs1522232-C	0.52	2E-6		2.22	[1.59-3.13]	Illumina [291119]	N
773	chr12	24759805	24759806	rs11047526	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	12p12.1	KNOP1P1	rs11047526-G	0.082	7E-6		0.0031	[0.0018-0.0044] unit increase	Affymetrix [1219546] (imputed)	N
773	chr12	24770877	24770878	rs17287293	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	12p12.1	LINC00477, C12orf67	rs17287293-A	0.85	3E-20		0.444	[0.32-0.57] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
773	chr12	24770877	24770878	rs17287293	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	12p12.1	intergenic	rs17287293-G	0.15	2E-10		8.6	[6.03-11.17] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
774	chr12	24786135	24786136	rs12832485	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	12p12.1	BCAT1	rs12832485-C	0.085	9E-6		0.003	[0.0017-0.0043] unit increase	Affymetrix [1219546] (imputed)	N
774	chr12	24788338	24788339	rs11047543	20062060	Pfeufer A	2010-01-10	Nat Genet	Genome-wide association study of PR interval.	PR interval	28,517 European ancestry individuals	NA	12p12.1	C12orf67, SOX5	rs11047543-A	0.15	3E-13		2.09	[1.53-2.65] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
776	chr12	25140689	25140690	rs59753639	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12p12.1	BRI3P2, LOC196415	rs59753639-C	0.007	5E-6		6.77	[2.62-17.46]	Illumina [1556551]	N
779	chr12	25484192	25484193	rs7965364	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	12p12.1	BCAT1	rs7965364-T	0.37	6E-6	(AA-glucose response)	3.79	[2.14-5.44] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
786	chr12	26446624	26446625	rs11836164	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	12p12.1	intergenic	rs11836164-T	0.77	1E-7				Affymetrix, Illumina [~ 2500000] (imputed)	N
786	chr12	26453282	26453283	rs718314	22010048	Wu X	2011-10-18	Hum Mol Genet	A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.	Renal cell carcinoma	894 European ancestry cases, 1,516 European ancestry controls	3,772 European ancestry cases, 8,505 European ancestry controls	12p11.23	ITPR2	rs718314-?	NR	9E-10		1.19	[1.13-1.26]	Illumina [533191]	N
786	chr12	26453282	26453283	rs718314	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	12p11.23	ITPR2, SSPN	rs718314-G	0.26	1E-17		0.03	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
786	chr12	26471363	26471364	rs10842707	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12p11.23	ITPR2, SSPN	rs10842707-T	0.2318	4E-16	(EA)	0.0324	[0.025-0.04] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
786	chr12	26471363	26471364	rs10842707	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12p11.23	ITPR2, SSPN	rs10842707-T	0.2306	6E-15	(EA, women)	0.0413	[0.031-0.052] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
786	chr12	26471363	26471364	rs10842707	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12p11.23	ITPR2, SSPN	rs10842707-T	0.2296	2E-15		0.0313	[0.024-0.039] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
786	chr12	26471363	26471364	rs10842707	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12p11.23	ITPR2, SSPN	rs10842707-T	0.2286	5E-15	(women)	0.0411	[0.031-0.051] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
788	chr12	26636385	26636386	rs2306677	17827064	van Es MA	2007-09-07	Lancet Neurol	ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.	Amyotrophic lateral sclerosis	461 European ancestry cases, 450 European ancestry controls	876 European ancestry cases, 906 European ancestry controls	12p11.23	ITPR2	rs2306677-?	0.07	3E-6		1.58	[1.30-1.91]	Illumina [311946]	N
788	chr12	26690564	26690565	rs10842750	25303641	Zhang F	2014-09-25	Arthritis Rheumatol	Genome-wide association study identifies ITPR2 as a susceptibility gene for Kashin-Beck disease in Han Chinese.	Kashin-Beck disease	90 Han Chinese ancestry cases, 1,627 Han Chinese ancestry controls	559 Han Chinese ancestry cases, 467 Han Chinese ancestry controls	12p11.23	ITPR2	rs10842750-?	NR	1E-11				Affymetrix [532894]	N
790	chr12	26912718	26912719	rs11048674	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Age of smoking initiation	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	12p11.23	NR	rs11048674-?		3E-6				Illumina [1211988] (imputed)	N
791	chr12	27005959	27005960	rs7138744	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	12p11.23	ITPR2	rs7138744-A	0.3386	3E-6		1.4071	[NR] unit decrease	Illumina [1216189] (imputed)	N
798	chr12	27965149	27965150	rs10842994	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	12p11.22	KLHDC5	rs10842994-C	0.8	8E-6		1.09	[1.04-1.13]	Affymetrix, Illumina [2500000] (imputed)	N
798	chr12	27984189	27984190	rs4420311	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	12p11.22	KLHDC5, PTHLH	rs4420311-G	NR	4E-7	(EA)	0.0872	[0.053-0.121] unit increase	Illumina [~ 2500000] (imputed)	N
798	chr12	27984189	27984190	rs4420311	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	12p11.22	KLHDC5, PTHLH	rs4420311-G	0.46	4E-8		0.085	[0.054-0.116] unit increase	Illumina [~ 2500000] (imputed)	N
798	chr12	27984189	27984190	rs4420311	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	12p11.22	KLHDC5, PTHLH	rs4420311-G	NR	1E-7	(EA)	0.0921	[0.058-0.126] unit increase	Illumina [~ 2500000] (imputed)	N
798	chr12	27984189	27984190	rs4420311	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	12p11.22	KLHDC5, PTHLH	rs4420311-G	0.46	3E-8		0.086	[0.055-0.117] unit increase	Illumina [~ 2500000] (imputed)	N
798	chr12	28008768	28008769	rs258401	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	12p11.22	KLHDC5	rs258401-T	0.26	6E-6		0.24	[0.14-0.34] unit increase	Illumina [2675979] (imputed)	N
798	chr12	28017158	28017159	rs7953528	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	12p11.22	KLHDC5	rs7953528-A	0.18	2E-12	(FNBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
798	chr12	28017521	28017522	rs258415	24736177	Sprooten E	2014-04-13	Neuroimage	Common genetic variants and gene expression associated with white matter microstructure in the human brain.	White matter microstructure (global fractional anisotropy)	727 Mexican American individuals from 65 families, 49 Mexican American individuals	NA	12p11.22	intergenic	rs258415-?		8E-10				Illumina [929187]	N
799	chr12	28155079	28155080	rs10771399	24325915	Purrington KS	2013-12-09	Carcinogenesis	Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.	Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative)	1,529 European ancestry cases, 3,399 European ancestry controls	2,148 European ancestry cases, 1,309 European ancestry controls	12p11.22	PTHLH	rs10771399-G		2E-8		1.3889	[1.25-1.56]	Illumina [NR] (imputed)	N
799	chr12	28155079	28155080	rs10771399	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Breast Cancer in BRCA1 mutation carriers	1,426 European ancestry cases, 1,301 European ancestry controls	6,031 European ancestry cases, 5,933 European ancestry controls	12p11.22	intergenic	rs10771399-A	0.86	8E-6		1.18	[1.1-1.27]	Illumina [2568349] (imputed)	N
799	chr12	28155079	28155080	rs10771399	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	12p11.22	PTHLH	rs10771399-T	0.895	2E-12		1.2	[1.15-1.27]	Illumina [NR]	N
799	chr12	28155079	28155080	rs10771399	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	12p11.22	PTHLH	rs10771399-A	0.88	8E-31		1.16	[1.14-1.2]	Affymetrix, Illumina [~ 2600000] (imputed)	N
799	chr12	28156080	28156081	rs12371778	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	12p11.22	LOC100129646, PTHLH	rs12371778-G	0.091	1E-8		0.162	[0.11-0.22] cup size decrease	Illumina [7422970] (imputed)	N
800	chr12	28192988	28192989	rs7964407	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12p11.22	NR	rs7964407-G	0.620613410769915	6E-6	(IGP8)	0.2061	[0.12-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
800	chr12	28195124	28195125	rs11049300	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	12p11.22	PTHLH	rs11049300-G		3E-7		1.4144	[1.28-1.55]	Illumina [up to 4972397] (imputed)	N
800	chr12	28228566	28228567	rs522958	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	12p11.22	intergenic	rs522958-?	NR	8E-7	(binary)			Perlegen [429981]	N
800	chr12	28228566	28228567	rs522958	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	12p11.22	intergenic	rs522958-?	NR	1E-6	(binary)			Perlegen [429981]	N
801	chr12	28406514	28406515	rs1979679	25064007	Nakajima M	2014-07-27	Nat Genet	A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.	Ossification of the posterior longitudinal ligament of the spine	1,112 Japanese ancestry cases, 6,810 Japanese ancestry controls	548 Japanese ancestry cases, 6,469 Japanese ancestry controls	12p11.22	CCDC91, PTHLH	rs1979679-T	0.362	4E-12		1.3	[1.21-1.40]	Illumina [5163786] (imputed)	N
802	chr12	28534414	28534415	rs2638953	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12p11.22	CCDC91	rs2638953-C	0.68	7E-17		0.032	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
802	chr12	28569713	28569714	rs10843164	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	12p11.22	CCDC91	rs10843164-T	0.68	6E-12		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
803	chr12	28600243	28600244	rs11049611	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12p11.22	CCDC91	rs11049611-T	0.304	3E-32		0.038	[0.032-0.044] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
804	chr12	28744640	28744641	rs10843215	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p11.22	CCDC91	rs10843215-G	0.309	8E-6	(BMI z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
804	chr12	28815791	28815792	rs1606355	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	12p11.22	LOC100130792	rs1606355-A		2E-6		0.2	[0.12-0.28] unit decrease	Affymetrix [~ 2500000] (imputed)	N
807	chr12	29118775	29118776	rs10843287	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of pregnancies	1,686 Bangladeshi women	NA	12p11.22	NR	rs10843287-?		5E-6		0.26	unit decrease	Illumina [1211988] (imputed)	N
809	chr12	29435479	29435480	rs2015599	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	12p11.22	MLSTD1	rs2015599-A	NR	6E-16		0.008	[0.006-0.01] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
812	chr12	29872317	29872318	rs16934812	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	12p11.22	TMTC1	rs16934812-?	NR	7E-6	(EA)	1.339	[NR]	Illumina [up to 531195]	N
813	chr12	29917264	29917265	rs679087	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12p11.22	NR	rs679087-C	NR	3E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
813	chr12	29917264	29917265	rs679087	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	12p11.22	TMTC1	rs679087-C	0.663	4E-8		1.0626993	[1.04-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
814	chr12	30104141	30104142	rs2046383	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	12p11.22	TMTC1	rs2046383-?	0.30	3E-6	(AA)	1.39	[0.97-1.97]	Affymetrix, Illumina [2478304] (imputed)	N
814	chr12	30113882	30113883	rs1463605	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	12p11.22	intergenic	rs1463605-?	NR	7E-8	(biologic age)			Affymetrix [70897]	N
816	chr12	30341933	30341934	rs10843647	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	12p11.22	intergenic	rs10843647-?		4E-6	(SG)	0.17	[0.092-0.248] unit increase	Illumina [693128]	N
820	chr12	30860556	30860557	rs16906714	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	12p11.21	intergenic	rs16906714-T	4.0E-4	6E-8	(O'Connor Slope)	1.257	[NR] unit increase	Illumina [546355]	N
829	chr12	31998993	31998994	rs2128614	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	12p11.21	LOC440093	rs2128614-?	NR	9E-6	(EA)	1.87	[1.05-2.69] unit increase	Affymetrix, Illumina [2033301]	N
829	chr12	32061452	32061453	rs112673195	25524241	Richter HE	2014-12-15	J Urol	Genetic Contributions to Urgency Urinary Incontinence in Women.	Urgency urinary incontinence	1,102 European ancestry cases, 405 European ancestry controls	1,133 European ancestry cases, 371 European ancestry controls	12p11.21	intergenic	rs112673195-?	NR	3E-7		1.61	[1.34-1.94]	Illumina [9077347] (imputed)	N
829	chr12	32097359	32097360	rs1151008	23761726	Yazar S	2013-06-06	Mol Vis	Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.	Corneal astigmatism	2,784 European ancestry individuals		12p11.21	AMN1	rs1151008-G	NR	1E-6		0.144	[0.085-0.203] unit decrease	Illumina [~ 2500000] (imputed)	N
830	chr12	32150242	32150243	rs4931594	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p11.21	C12orf35	rs4931594-C	0.242	5E-6	(Total T4 )	0.03	[NR] ug/dL increase	Illumina [899892]	N
831	chr12	32261238	32261239	rs1144713	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p11.21	BICD1	rs1144713-A	0.23	7E-6	(Urinary free norepinephrine: creatinine)	0.02	[NR] unit increase	Illumina [899892]	N
832	chr12	32380500	32380501	rs10844154	20709820	Kong X	2010-08-13	Am J Respir Crit Care Med	Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.	Emphysema-related traits	2,383 European ancestry cases	NA	12p11.21	BICD1	rs10844154-C	0.58	6E-7	(qualitative)	1.46	[NR]	Illumina [499578]	N
832	chr12	32380500	32380501	rs10844154	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Weight	Up to 3,925 European individuals	NA	12p11.21	NR	rs10844154-C	0.54	4E-6	(females)	1.87	[NR] kg increase	Illumina [318237]	N
832	chr12	32436408	32436409	rs708224	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	12p11.21	BICD1	rs708224-A	0.66	3E-7	(allelic)	1.32	[1.19-1.47]	Illumina [420236]	N
832	chr12	32476726	32476727	rs261902	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Normalized brain volume	753 European ancestry cases, 883 European ancestry controls	NA	12p11.21	BICD1	rs261902-?	0.16	4E-6			[NR]	Illumina [551642]	N
833	chr12	32537487	32537488	rs11051970	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	12p11.21	intergenic	rs11051970-?	0.34	1E-6	(CSJC, RF+)	2.08	[NR] unit decrease	Illumina [534053]	N
836	chr12	33017042	33017043	rs1454933	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p11.21	PKP2	rs1454933-C	0.169	9E-6	(Fat mass change )	0.03	[NR] kg/y increase	Illumina [899892]	N
836	chr12	33017042	33017043	rs1454933	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p11.21	PKP2	rs1454933-C	0.169	3E-6	(Fat mass deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
836	chr12	33017042	33017043	rs1454933	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12p11.21	PKP2	rs1454933-C	0.169	3E-6	(Energy storage )	0.04	[NR] kcal/d increase	Illumina [899892]	N
841	chr12	33576989	33576990	rs7980799	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	12p11.1	SYT10	rs7980799-A	0.401	6E-24		0.377	[0.29-0.47] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
842	chr12	33701165	33701166	rs9300212	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	12p11.1	intergenic	rs9300212-?	NR	8E-6	(WRAT)			Affymetrix [70897]	N
878	chr12	38439202	38439203	rs2204008	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	12q12	PSCA	rs2294008-T	0.46	3E-15		1.13	[1.10-1.16]	Illumina [462190]	N
880	chr12	38743507	38743508	rs6582630	19483685	Daly AK	2009-05-31	Nat Genet	HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.	Drug-induced liver injury (flucloxacillin)	58 European ancestry cases, 282 European ancestry controls	NA	12q12	ALG10B	rs6582630-?	0.38	1E-6		2.82	[NR]	Illumina [866399]	N
883	chr12	39106730	39106731	rs826838	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	12q12	CPNE8	rs826838-C	0.443	4E-9		0.234	[0.15-0.32] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
884	chr12	39253107	39253108	rs11169838	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q12	NR	rs11169838-C	0.680712065091395	8E-6	(IGP35)	0.1671	[0.094-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
884	chr12	39253107	39253108	rs11169838	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q12	NR	rs11169838-C	0.680521641139804	2E-6	(IGP31)	0.1764	[0.1-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
885	chr12	39430047	39430048	rs11170468	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q12	CPNE8	rs11170468-A	0.765	1E-7		0.019	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
885	chr12	39430047	39430048	rs11170468	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q12	CPNE8	rs11170468-A	0.762	7E-8	(EA)	0.02	[0.012-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
886	chr12	39522906	39522907	rs10783624	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q12	NR	rs10783624-C	NR	2E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
892	chr12	40341084	40341085	rs1005956	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep quality	2,315 European ancestry individuals	NA	12q12	SLC2A13	rs1005956-C	0.41	3E-6		0.13	[0.071-0.189] unit decrease	Illumina [2380486] (imputed)	N
892	chr12	40352995	40352996	rs10877840	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	12q12	SLC2A13	rs10877840-?	NR	1E-6		1.15	[NR]	Illumina [2500000] (imputed)	N
892	chr12	40354243	40354244	rs11174478	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Insomnia	2,267 European ancestry individuals	NA	12q12	SLC2A13	rs11174478-A	0.4	2E-6		0.1	[0.061-0.139] unit decrease	Illumina [2380486] (imputed)	N
893	chr12	40425086	40425087	rs11174812	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	12q12	LRRK2	rs11174812-A	0.746	2E-7		1.14	[NR]	Illumina [4577171] (imputed)	N
893	chr12	40428560	40428561	rs1994090	19915576	Satake W	2009-11-15	Nat Genet	Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.	Parkinson's disease	988 Japanese ancestry cases, 2,521 Japanese ancestry controls	933 Japanese ancestry cases, 15,753 Japanese ancestry controls	12q12	LRRK2	rs1994090-?	NR	3E-8		1.39	[1.24-1.56]	Illumina [435470]	N
894	chr12	40528431	40528432	rs12422544	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q12	NR	rs12422544-G	0.01915	3E-6	(EA)	1.2153448	[1.13-1.3]	Affymetrix, Illumina [~ 9000000] (imputed)	N
894	chr12	40528431	40528432	rs12422544	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q12	NR	rs12422544-G	0.01915	4E-25	(EA)	1.4551913	[1.38-1.53]	Affymetrix, Illumina [~ 9000000] (imputed)	N
894	chr12	40531690	40531691	rs1388585	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q12	NR	rs1388585-?	NR	7E-22	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
894	chr12	40601939	40601940	rs11175593	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	12q12	MUC19, LRRK2	rs11175593-T	0.02	3E-10		1.54	[NR]	Affymetrix, Illumina [635547] (imputed)	N
894	chr12	40614433	40614434	rs76904798	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	12q12	LRRK2	rs76904798-T	0.143	5E-14		1.155	[1.12-1.19]	Illumina [7893274] (imputed)	N
894	chr12	40620807	40620808	rs1491942	22438815	Lill CM	2012-03-15	PLoS Genet	Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.	Parkinson's disease	2,197 cases, 2,061 controls	Up to 98,080 European and Asian ancestry individuals	12q12	LRRK2	rs1491942-?	0.21	6E-15	(EA)	1.17	[1.13-1.22]	Illumina, Perlegen [7123920] (imputed)	N
894	chr12	40620807	40620808	rs1491942	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	12q12	LRRK2	rs1491942-G	0.08	6E-14		1.27	[1.21-1.33]	Illumina [7689524] (imputed)	N
895	chr12	40734201	40734202	rs34637584	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	12q12	LRRK2	rs34637584-A	0.002	2E-28		9.62	[6.43-14.37]	Illumina [522782]	N
895	chr12	40756471	40756472	rs4768236	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q12	NR	rs4768236-C	0.3295	2E-15	(EA)	1.0849894	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
895	chr12	40756471	40756472	rs4768236	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q12	NR	rs4768236-C	0.3295	4E-21	(EA)	1.1238824	[1.1-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
895	chr12	40757327	40757328	rs34778348	22438815	Lill CM	2012-03-15	PLoS Genet	Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.	Parkinson's disease	2,197 cases, 2,061 controls	Up to 98,080 European and Asian ancestry individuals	12q12	LRRK2	rs34778348-?	0.04	3E-21	(Asian)	2.23	[1.89-2.63]	Illumina, Perlegen [7123920] (imputed)	N
896	chr12	40767361	40767362	rs10467147	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q12	LRRK2	rs10467147-A	0.196	5E-6	(C-peptide )	0.03	[NR] ng/mL increase	Illumina [899892]	N
896	chr12	40792299	40792300	rs11564258	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	12q12	MUC19, LRRK2	rs11564258-A	0.025	6E-29		1.334	[1.217-1.461]	Affymetrix, Illumina [1230000] (imputed)	N
896	chr12	40792299	40792300	rs11564258	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	12q12	MUC19, LRRK2	rs11564258-A	0.025	6E-21		1.74	[1.55-1.95]	Affymetrix, Illumina [953241] (imputed)	N
898	chr12	41126329	41126330	rs17539289	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	12q12	CNTN1	rs17539289-A	0.0535	5E-6	(Primary)	0.6468	[0.37-0.93] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
899	chr12	41246279	41246280	rs312274	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	12q12	CNTN1	rs312274-A		4E-6		0.05	[0.03-0.08] unit decrease	Affymetrix [~ 2500000] (imputed)	N
899	chr12	41247741	41247742	rs312273	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	12q12	intergenic	rs312273-?	NR	9E-6	(NSM vs. Control)	1.566	[NR]	Affymetrix [703012]	N
900	chr12	41353748	41353749	rs13328933	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q12	NR	rs13328933-C	0.948348054342984	5E-6	(IGP29)	0.3116	[0.18-0.45] unit increase	Illumina [~ 2500000] (imputed)	N
900	chr12	41365639	41365640	rs1442190	24842889	Vacic V	2014-05-19	Hum Mol Genet	Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.	Parkinson's disease	1,130 Ashkenazi Jewish cases, 2,611 Ashkenazi Jewish controls	306 Ashkenazi Jewish cases, 2,583 Ashkenazi Jewish controls	12q12	LRRK2	rs1442190-?	0.0264	2E-27		3.72	[2.98-4.64]	Affymetrix, Illumina [1069161] (imputed)	N
902	chr12	41624794	41624795	rs117626015	24986923	Chu M	2014-07-01	Hum Mol Genet	A genome-wide association study identifies susceptibility loci of silica related pneumoconiosis in Han Chinese.	Pneumoconiosis in silica exposure	202 Han Chinese ancestry cases, 198 Han Chinese ancestry controls	490 Han Chinese ancestry cases, 541 Han Chinese ancestry controls	12q12	CNTN1, PDZRN4	rs117626015-C	0.040	5E-6		2.43	[1.66 - 3.56]	Illumina [710999] (imputed)	N
903	chr12	41713305	41713306	rs118079879	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12q12	intergenic	rs118079879-A	0.013	1E-7		5.93	[2.82-12.48]	Illumina [1556551]	N
903	chr12	41721429	41721430	rs1880887	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	12q12	CNTN1, PDZRN4	rs1880887-?	0.03	1E-10	(Alkaline phosphatase)			Illumina [496032]	N
904	chr12	41874281	41874282	rs7957589	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	12q12	CNTN1	rs7957589-T	0.146	8E-10		0.047	[0.032-0.061] unit decrease	Illumina [7428049] (imputed)	N
904	chr12	41921664	41921665	rs285575	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q12	PDZRN4	rs285575-A	0.489	7E-7		0.015	[0.009-0.0208] kg/m2 increase	Affymetrix, Illumina [2550021]	N
904	chr12	41921664	41921665	rs285575	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q12	PDZRN4	rs285575-A	0.481	7E-6	(EA, men)	0.019	[0.01-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
904	chr12	41921664	41921665	rs285575	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q12	PDZRN4	rs285575-A	0.481	6E-7	(EA)	0.015	[0.0093-0.0215] kg/m2 increase	Affymetrix, Illumina [2550021]	N
904	chr12	41940663	41940664	rs11180992	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	12q12	PDZRN4	rs11180992-C	0.01	3E-6	(men)	0.334	[0.19-0.48] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
905	chr12	41965860	41965861	rs1458175	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	12q12	PDZRN4	rs1458175-?	0.49	2E-6		1.34	[NR]	Illumina [551642]	N
906	chr12	42171981	42171982	rs871392	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	12q12	intergenic	rs871392-A	0.15	3E-6	(HDL cholesterol)	0.26	[0.15-0.37] mmol/L decrease	Illumina [316730]	N
910	chr12	42722907	42722908	rs116975820	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12q12	NR	rs116975820-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
914	chr12	43160743	43160744	rs12316797	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12q12	PRICKLE1	rs12316797-G	0.13	1E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
914	chr12	43160824	43160825	rs2731006	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	12q12	intergenic	rs2731006-?	0.29	4E-6				Affymetrix [253903]	N
914	chr12	43253414	43253415	rs1520832	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	12q12	PRICKLE1	rs1520832-?	0.04	1E-6	(EA)	1.39	[0.99-1.95]	Affymetrix, Illumina [2478304] (imputed)	N
916	chr12	43434281	43434282	rs1167125	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q12	ADAMTS20	rs1167125-C	0.042	5E-6	(Diet fat )	0.03	[NR] g/d increase	Illumina [899892]	N
917	chr12	43570514	43570515	rs7978895	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	12q12	ADAMTS20	rs7978895-?	NR	9E-6		0.14	[0.081-0.199] unit increase	Illumina [1075436] (imputed)	N
920	chr12	43929995	43929996	rs275380	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	12q12	ADAMTS20	rs275380-?	NR	1E-6	(LTG)			Illumina [NR]	N
920	chr12	43967676	43967677	rs7295246	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	12q12	ADAMTS20	rs7295246-G	0.406	3E-7		1.07	[1.04-1.10]	Illumina [7055881] (imputed)	N
920	chr12	43984227	43984228	rs77464658	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12q12	NR	rs77464658-?	NR	5E-6	(Native Hawaiian)	0.9525	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
921	chr12	44153825	44153826	rs4251424	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted TNF-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	12q12	PUS7L, IRAK4	rs4251424-A		2E-8	(AA)			Illumina [NR]	N
934	chr12	45774907	45774908	rs17095830	22138694	Lin Z	2011-12-04	Nat Genet	A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.	Ankylosing spondylitis	1,837 Han Chinese ancestry cases, 4,231 Han Chinese ancestry controls	2,100 Han Chinese ancestry cases, 3,496 Han Chinese ancestry controls	12q12	ANO6	rs17095830-G	0.10	2E-8		1.29	[1.18-1.41]	Illumina [1356350] (imputed)	N
934	chr12	45843489	45843490	rs10880784	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	12q12	ANO6	rs10880784-G	0.93	2E-6	(women)	0.257	[0.15-0.36] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
935	chr12	45925754	45925755	rs7960483	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	12q12	AN06	rs7960483-?,rs10785581-?	(TC)	1E-7				Affymetrix [405022]	N
935	chr12	45930972	45930973	rs10785581	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	12q12	AN06	rs7960483-?,rs10785581-?	(TC)	1E-7				Affymetrix [405022]	N
935	chr12	45959762	45959763	rs76569837	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	12q12	intergenic	rs76569837-G	NR	3E-6		2.7	[NR]	Illumina [up to 9792010] (imputed)	N
938	chr12	46294907	46294908	rs247929	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	12q12	intergenic	rs247929-C	0.513	8E-6		0.02	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
939	chr12	46485837	46485838	rs1373549	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	12q13.11	ARID2, SFRS2IP	rs1373549-?	NR	8E-6				Illumina [516645]	N
946	chr12	47372269	47372270	rs2711721	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	12q13.11	AMIGO2	rs2711721-?	NR	2E-6	(rs5759167)	1.28	[1.16-1.42]	Affymetrix, Illumina [1117531] (imputed)	N
948	chr12	47639525	47639526	rs11610206	19118814	Beecham GW	2009-01-03	Am J Hum Genet	Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.	Alzheimer's disease	492 European ancestry cases, 496 European ancestry controls	238 European ancestry cases, 220 European ancestry controls	12q13.11	FAM113B	rs11610206-?	NR	3E-7				Illumina [~ 2500000] (imputed)	N
949	chr12	47771428	47771429	rs2074193	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	12q13.11	intergenic	rs2074193-C	0.21	5E-7		1.15	[1.09-1.21]	Affymetrix, Illumina [~ 2300000] (imputed)	N
949	chr12	47814971	47814972	rs1881744	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/5-HIAA ratio)	up to 398 European ancestry individuals	NA	12q13.11	intergenic	rs1881744-A		2E-6		0.228	unit increase	Illumina [5767231] (imputed)	N
950	chr12	47880148	47880149	rs7955374	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	12q13.11	VDR	rs7955374-T	0.13	1E-8		0.04	[0.024-0.056] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
950	chr12	47923015	47923016	rs7307902	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q13.11	intergenic	rs7307902-G	0.243	1E-6	(Dinner intake, adj TEE )	0.05	[NR] kcal increase	Illumina [899892]	N
951	chr12	48044010	48044011	rs11168187	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	12q13.11	RPAP3	rs11168187-G	NR	3E-8		0.009	[0.0051-0.0129] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
952	chr12	48173351	48173352	rs4760636	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	12q13.11	HDAC7	rs4760636-T	0.23	6E-6	(network)	0.027	[0.015-0.039] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
952	chr12	48187253	48187254	rs75365750	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q13.11	HDAC7	rs75365750-G	0.043	5E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
952	chr12	48208367	48208368	rs11168249	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q13.11	NR	rs11168249-G	0.4676	7E-7	(EA)	1.0644168	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
952	chr12	48208367	48208368	rs11168249	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	12q13.11	VDR	rs11168249-C	0.467	8E-9		1.054	[1.024-1.084]	Affymetrix, Illumina [1230000] (imputed)	N
954	chr12	48403764	48403765	rs11168351	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	12q13.11	NR	rs11168351-?	NR	9E-6		1.2231	[NR]	Affymetrix [722112]	N
954	chr12	48419617	48419618	rs80130819	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	12q13.11	RP1-228P16.4	rs80130819-A	0.91	4E-8	(EA)	1.13	[1.08-1.17]	Affymetrix, Illumina [up to 16852405] (imputed)	N
954	chr12	48419617	48419618	rs80130819	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	12q13.11	RP1-228P16.4	rs80130819-A	0.91	2E-9		1.14	[1.09-1.18]	Affymetrix, Illumina [up to 16852405] (imputed)	N
955	chr12	48518263	48518264	rs10875746	25199915	Broer L	2014-09-08	J Gerontol A Biol Sci Med Sci	GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.	Longevity (90 years and older)	6,036 European ancestry cases, 3,757 European ancestry controls	NA	12q13.11	PFKM	rs10875746-A	0.76	8E-6		1.2	1.11-1.30	Affymetrix, Illumina [2500000] (imputed)	N
957	chr12	48811099	48811100	rs4489787	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	12q13.11	ANP32D	rs4489787-?	NR	1E-6	(rs4430796)	1.47	[1.25-1.72]	Affymetrix, Illumina [1117531] (imputed)	N
958	chr12	48933232	48933233	rs11168618	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	12q13.11	OR8S1, LALBA	rs11168618-T	0.137	1E-7		0.06	[0.040-0.080] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
958	chr12	48946230	48946231	rs193153567	26058915	Tin A	2015-05-29	BMC Genet	Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study.	Magnesium levels	2,737 African American individuals	942 African American individuals	12q13.11	OR8S1	rs193153567-T	0.1	5E-7		0.017	[NR] mmol/L decrease	Affymetrix [14825944] (imputed)	N
959	chr12	49072793	49072794	rs118067775	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	12q13.11	KANSL2, SNORA34, MIR1291, SNORA2A, SNORA2B, CCNT1, LOC255411, ADCY6, MIR4701	rs118067775-C	0.0348	1E-6		4.12	[3.55-4.69]	Illumina [8809853] (imputed)	N
960	chr12	49218170	49218171	rs2070615	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	12q13.12	RND1, DDX23, CANCNB3	rs2070615-G	NR	1E-6		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
962	chr12	49416943	49416944	rs10875912	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	12q13.12	MLL2	rs10875912-T	NR	8E-8	(Cases)	0.09	[0.057-0.123] unit decrease	Illumina [6900000] (imputed)	N
962	chr12	49474604	49474605	rs12821008	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	12q13.12	DHH	rs12821008-T	0.39	1E-15	(LSBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
962	chr12	49485372	49485373	rs11168854	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q13.12	DHH	rs11168854-G	0.385	2E-6		0.015	[0.0091-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
962	chr12	49485372	49485373	rs11168854	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q13.12	DHH	rs11168854-G	0.375	1E-6	(EA)	0.016	[0.0096-0.0226] kg/m2 increase	Affymetrix, Illumina [2550021]	N
963	chr12	49676009	49676010	rs10875943	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	12q13.12	NR	rs10875943-C	0.29	7E-8		1.12	[1.08-1.17]	Affymetrix [up to 19977088] (imputed)	N
963	chr12	49676009	49676010	rs10875943	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	12q13.12	NR	rs10875943-C	0.29	2E-6	(European)	1.12	[1.07-1.18]	Affymetrix [up to 19977088] (imputed)	N
963	chr12	49676009	49676010	rs10875943	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	12q13.12	PRPH	rs10875943-C	0.31	7E-12		1.07	[1.04-1.10]	NR [2600000] (imputed)	N
968	chr12	50226466	50226467	rs10875976	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	12q13.12	LOC144233	rs10875976-A	0.49	2E-10	(Overweight)	1.04	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
968	chr12	50247467	50247468	rs7138803	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q13.12	BCDIN3D	rs7138803-A	0.385	6E-11	(EA, men)	0.027	[0.019-0.036] kg/m2 increase	Affymetrix, Illumina [2550021]	N
968	chr12	50247467	50247468	rs7138803	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q13.12	BCDIN3D	rs7138803-A	0.384	8E-24	(EA)	0.032	[0.025-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
968	chr12	50247467	50247468	rs7138803	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q13.12	BCDIN3D	rs7138803-A	0.384	2E-17	(EA, women)	0.035	[0.027-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
968	chr12	50247467	50247468	rs7138803	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q13.12	BCDIN3D	rs7138803-A	0.379	5E-26		0.032	[0.026-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
968	chr12	50247467	50247468	rs7138803	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	12q13.12	BCDIN3D	rs7138803-G	0.62	2E-12		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
968	chr12	50247467	50247468	rs7138803	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	12q13.12	LOC144233	rs7138803-A	0.38	1E-20	(Obesity class I)	1.09	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
968	chr12	50247467	50247468	rs7138803	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	12q13.12	LOC144233	rs7138803-A	0.38	1E-16	(Obesity class II)	1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
968	chr12	50247467	50247468	rs7138803	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	12q13.12	LOC144233	rs7138803-A	0.38	2E-9		1.13	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
968	chr12	50247467	50247468	rs7138803	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	12q13.12	FAIM2	rs7138803-A	0.38	2E-17		0.12	[0.08-0.16] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
968	chr12	50247467	50247468	rs7138803	19557197	Heard-Costa NL	2009-06-26	PLoS Genet	NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.	Waist circumference	31,373 European ancestry individuals	38,641 individuals	12q13.12	BCDIN3D, FAIM2	rs7138803-?	NR	8E-7				Affymetrix, Illumina [up to 512349]	N
968	chr12	50247467	50247468	rs7138803	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	12q13.12	BCDIN3D, FAIM2	rs7138803-A	0.37	2E-7		3.27	[2.05-4.49] percentage SD increase	Illumina [305846]	N
968	chr12	50247467	50247468	rs7138803	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	12q13.12	BCDIN3D, FAIM2	rs7138803-A	0.37	1E-7		3.28	[2.06-4.50] % SD increase	Illumina [305846]	N
968	chr12	50319085	50319086	rs297941	22889921	Stewart SE	2012-08-14	Mol Psychiatry	Genome-wide association study of obsessive-compulsive disorder.	Obsessive-compulsive disorder	1,279 European ancestry cases, 5,139 European ancestry controls, 299 European ancestry trios, 93 South African Afrikaner ancestry cases, 158  South African Afrikaner ancestry controls, 93 Ashkenazi Jewish cases, 260 Ashkenazi Jewish controls, 101 Hispanic and unknown ancestry trios	NA	12q13.12	FAIM2, AQP2	rs297941-?	NR	5E-7		1.23	NR	Illumina [479067]	N
970	chr12	50573432	50573433	rs34245511	24737748	Whiffin N	2014-04-15	Hum Mol Genet	Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.	Colorectal cancer	5,626 European ancestry cases, 7,817 European ancestry controls	14,037 European ancestry cases, 15,937 European ancestry controls	12q13.12	DIP2B, ATF1	rs34245511-C	0.346	3E-8		1.144	[NR]	Illumina [NR] (imputed)	N
971	chr12	50594946	50594947	rs4459386	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q13.12	NR	rs4459386-A	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
974	chr12	51045448	51045449	rs4768903	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	12q13.12	DIP2B, ATF1	rs4768903-A	0.61	4E-8		1.1	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
975	chr12	51134740	51134741	rs7968440	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	12q13.12	DIP2B	rs7968440-A	0.64	3E-8	(EA)	0.006	[0.004-0.008] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
975	chr12	51155662	51155663	rs11169552	20972440	Houlston RS	2010-10-24	Nat Genet	Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.	Colorectal cancer	3,334 European ancestry cases, 4,628 European ancestry controls	14,851 European ancestry cases, 15,569 European ancestry controls	12q13.12	DIP2B, ATF1	rs11169552-C	NR	2E-10		1.09	[1.05-1.11]	Illumina [up to 550000] (imputed)	N
975	chr12	51213432	51213433	rs17291650	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	12q13.12	ATF1	rs17291650-?	0.10	3E-7	(Recessive)	1.43	[1.25-1.64]	Affymetrix [319222]	N
976	chr12	51357541	51357542	rs12304921	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	(see Zeggini 2007)	12q13.12	NR	rs12304921-G	0.15	7E-6		2.5	[1.53-4.09]	Affymetrix [469557]	N
979	chr12	51703833	51703834	rs766903	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to death)	25,007 European ancestry individuals	10,411 European ancestry individuals	12q13.13	BIN2	rs766903-A	0.83	2E-6		0.09	[0.05-0.13] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
979	chr12	51727595	51727596	rs3951439	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q13.13	CELA1	rs3951439-G	0.0060	6E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
980	chr12	51878759	51878760	rs147845115	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		12q13.13	SLC4A8	rs147845115-?	0.03	3E-7		0.29	unit decrease	Illumina [NR] (imputed)	N
983	chr12	52245937	52245938	rs303795	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	12q13.13	LOC728503	rs303795-C	0.49	5E-6		0.03	[0.01-0.05] unit increase	Illumina [1632371] (imputed)	N
983	chr12	52251271	52251272	rs7976059	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	12q13.13	ACVR1B, ACVRL1	rs7976059-T	0.35	2E-9	(network)	0.032	[0.022-0.042] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
983	chr12	52263955	52263956	rs17126180	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	12q13.13	ANKRD33	rs17126180-?	0.06	9E-7	(quetiapine)			Affymetrix [492900]	N
984	chr12	52381025	52381026	rs2252518	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	12q13.13	ACVR1B, GRASP	rs2252518-?		5E-7	(PC2)	0.0716	[NR] unit increase	Illumina [4167292] (imputed)	N
986	chr12	52587517	52587518	rs17653722	24465473	Liu Y	2014-01-21	PLoS One	A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.	Telomere length	2,632 Han Chinese ancestry individuals	3,917 Han Chinese ancestry individuals, 696 European ancestry individuals	12q13.13	KRT80	rs17653722-T	NR	7E-6	(Han Chinese)	0.1223	[NR] unit increase	Affymetrix [585206]	N
986	chr12	52640276	52640277	rs936332	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12q13.13	KRT7, KRT80, KRT121P	rs936332-G	0.379	1E-6		2.27	[1.62-3.2]	Illumina [1556551]	N
986	chr12	52680765	52680766	rs59448276	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12q13.13	KRT81, KRT122P, KRT86	rs59448276-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
987	chr12	52691957	52691958	rs17655565	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-42)	3,528 European ancestry individuals	NA	12q13.13	KRT86	rs17655565-C	0.109	2E-6		0.12	[0.081-0.159] unit increase	Illumina [2316178] (imputed)	N
988	chr12	52913667	52913668	rs11170164	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	12q13.13	KRT5	rs11170164-T	0.087	9E-9		1.29	[NR]	Illumina [24988228] (imputed)	N
988	chr12	52913667	52913668	rs11170164	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	12q13.13	KRT5	rs11170164-T		3E-6		1.25	[1.14-1.37]	Illumina [38500000] (imputed)	N
990	chr12	53102195	53102196	rs678069	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	12q13.13	intergenic	rs678069-?	NR	4E-6	(SCL)	0.095	[0.054-0.136] unit increase	Illumina [527829]	N
991	chr12	53273903	53273904	rs902774	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	12q13.13	NR	rs902774-A	0.15	9E-8		1.16	[1.10-1.23]	Affymetrix [up to 19977088] (imputed)	N
991	chr12	53273903	53273904	rs902774	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	12q13.13	NR	rs902774-A	0.15	1E-7	(European)	1.17	[1.11-1.24]	Affymetrix [up to 19977088] (imputed)	N
991	chr12	53273903	53273904	rs902774	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	12q13.13	KRT8, EIF4B, TENC1	rs902774-A	0.17	5E-9		1.17	[1.11-1.24]	Illumina [571243]	N
993	chr12	53554282	53554283	rs2272306	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q13.13	CSAD, ITGB7	rs2272306-A	0.134	2E-6	(Leptin )	0.04	[NR] ng/mL increase	Illumina [899892]	N
993	chr12	53605544	53605545	rs2229774	26237429	Aminkeng F	2015-08-03	Nat Genet	A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer.	Anthracycline-induced cardiotoxicity in childhood cancer	32 European ancestry cases with cardiotoxicity, 248 European ancestry cases without cardiotoxicity	22 European ancestry cases with cardiotoxicity, 74 European ancestry cases without cardiotoxicity, 2 African cases with cardiotoxicity, 9 African cases without cardiotoxicity, 5 Hispanic cases with cardiotoxicity, 18 Hispanic cases without cardiotoxicity, 8 East Asian cases with cardiotoxicity, 23 East Asian cases without cardiotoxicity, 4 Aboriginal Canadian cases with cardiotoxicity, 11 Aboriginal Canadian cases without cardiotoxicity	12q13.13	RARG	rs2229774-A	0.076	8E-8	(EA)	5.4	[2.9-10.3]	Illumina [657694]	N
993	chr12	53605544	53605545	rs2229774	26237429	Aminkeng F	2015-08-03	Nat Genet	A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer.	Anthracycline-induced cardiotoxicity in childhood cancer	32 European ancestry cases with cardiotoxicity, 248 European ancestry cases without cardiotoxicity	22 European ancestry cases with cardiotoxicity, 74 European ancestry cases without cardiotoxicity, 2 African cases with cardiotoxicity, 9 African cases without cardiotoxicity, 5 Hispanic cases with cardiotoxicity, 18 Hispanic cases without cardiotoxicity, 8 East Asian cases with cardiotoxicity, 23 East Asian cases without cardiotoxicity, 4 Aboriginal Canadian cases with cardiotoxicity, 11 Aboriginal Canadian cases without cardiotoxicity	12q13.13	RARG	rs2229774-A	0.064	6E-8		4.7	[2.7-8.3]	Illumina [657694]	N
994	chr12	53727954	53727955	rs2016266	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	12q13.13	SP7	rs2016266-A	0.68	3E-20	(LSBMD)	0.05	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
994	chr12	53727954	53727955	rs2016266	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	12q13.13	SP7	rs2016266-G	0.32	1E-8		0.07	[0.05-0.09] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
994	chr12	53731890	53731891	rs10876432	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (spine)	6,865 European ancestry individuals	8,510 European ancestry individuals	12q13.13	SP7	rs10876432-A	0.73	1E-7		0.08	[0.05-0.11] s.d. decrease	Illumina [305051]	N
995	chr12	53787952	53787953	rs2460882	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	12q13.13	SP1	rs2460882-T	NR	6E-7	(Cases)	0.11	[0.067-0.153] unit increase	Illumina [6900000] (imputed)	N
996	chr12	53916714	53916715	rs12321906	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	12q13.13	ATF7	rs12321906-T	0.87	5E-6		0.052	[0.030-0.074] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
996	chr12	53955484	53955485	rs1485394	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	12q13.13	ATF7	rs1485394-?	NR	8E-6	(Beta power, Cz)	0.089	[0.05-0.128] unit increase	Illumina [527829]	N
996	chr12	53995076	53995077	rs1485395	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	12q13.13	intergenic	rs1485395-C	0.16	7E-6		1.13	[1.07-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
997	chr12	54030237	54030238	rs11170624	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	12q13.13	ATF7	rs11170624-T	0.24	9E-15		0.037	[0.023-0.051] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
997	chr12	54041191	54041192	rs11170631	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	12q13.13	ATF7, ATP5G2	rs11170631-C	0.36	9E-7		0.05	[0.03-0.07] cm increase	Illumina [420885]	N
997	chr12	54058237	54058238	rs1971762	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	12q13.13	ATP5G2	rs1971762-T	0.44	7E-18		0.043	[0.031-0.055] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
997	chr12	54114157	54114158	rs941184	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	12q13.13	CALCOCO1	rs941184-?	0.03	3E-7				Affymetrix [253903]	N
998	chr12	54159276	54159277	rs7969151	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	12q13.13	LOC440100	rs7969151-A	0.21	2E-6		0.13	[0.07-0.19] tanning ability score increase	Illumina [528173]	N
999	chr12	54270227	54270228	rs2120991	20460270	Garcia-Barcelo MM	2010-05-11	Hum Mol Genet	Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.	Biliary atresia	281 Chinese ancestry cases, 481 Chinese ancestry controls	124 Chinese ancestry cases, 90 Chinese ancestry controls	12q13.13	HOXC13	rs2120991-A	0.134	9E-6		2.14	[1.58-2.89]	Affymetrix [289118]	N
999	chr12	54275265	54275266	rs1596370	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	12q13.13	CALCOCO1, HOXC13	rs1596370-A	0.21	8E-7		0.021	[0.013-0.029] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
999	chr12	54319726	54319727	rs894734	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)	294 Japanese ancestry cases, 2,249 Japanese ancestry controls	NA	12q13.13	HOXC13	rs894734-G	0.776	4E-6	(Dominant model)	1.619	[1.279-2.05]	Illumina [733202]	N
999	chr12	54342683	54342684	rs1443512	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC13	rs1443512-A	0.257	1E-13		0.0282	[0.021-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
999	chr12	54342683	54342684	rs1443512	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC13	rs1443512-A	0.2542	8E-16	(women)	0.0408	[0.031-0.051] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
999	chr12	54342683	54342684	rs1443512	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC13	rs1443512-A	0.2373	7E-13	(EA)	0.0283	[0.021-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
999	chr12	54342683	54342684	rs1443512	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC13	rs1443512-A	0.235	1E-14	(EA, women)	0.0404	[0.03-0.051] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
999	chr12	54342683	54342684	rs1443512	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	12q13.13	HOXC13	rs1443512-A	0.24	6E-17		0.03	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
999	chr12	54349772	54349773	rs10783615	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC12	rs10783615-G	0.1825	2E-13		0.0343	[0.025-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
999	chr12	54349772	54349773	rs10783615	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC12	rs10783615-G	0.1811	3E-13	(women)	0.0455	[0.033-0.058] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
999	chr12	54349772	54349773	rs10783615	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC12	rs10783615-G	0.144	3E-13	(EA)	0.0359	[0.026-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
999	chr12	54349772	54349773	rs10783615	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC12	rs10783615-G	0.143	4E-12	(EA, women)	0.0454	[0.033-0.058] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1000	chr12	54417575	54417576	rs736825	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	12q13.13	HOXC6	rs736825-C	0.56	8E-16	(LSBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1000	chr12	54426520	54426521	rs2630772	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	12q13.13	HOXC6	rs2630772-T		5E-6		110.21	[62.99-157.43] unit increase	Affymetrix, Illumina [at least 646791] (imputed)	N
1000	chr12	54428010	54428011	rs2071449	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC4, HOXC6	rs2071449-A	0.3715	3E-8	(EA, men)	0.0287	[0.019-0.039] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1000	chr12	54428010	54428011	rs2071449	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC4, HOXC6	rs2071449-A	0.3692	3E-14	(EA)	0.0276	[0.021-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1000	chr12	54428010	54428011	rs2071449	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC4, HOXC6	rs2071449-A	0.368	2E-7	(men)	0.0265	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1000	chr12	54428010	54428011	rs2071449	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC4, HOXC6	rs2071449-A	0.3669	4E-8	(EA, women)	0.0265	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1000	chr12	54428010	54428011	rs2071449	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC4, HOXC6	rs2071449-A	0.3637	3E-13		0.0261	[0.019-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1000	chr12	54428010	54428011	rs2071449	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q13.13	HOXC4, HOXC6	rs2071449-A	0.3623	5E-8	(women)	0.0261	[0.017-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1002	chr12	54687231	54687232	rs10506328	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	12q13.13	COPZ1, NFE2	rs10506328-C	0.64	2E-9		0.09	[NR] unit decrease	Illumina [476395]	N
1002	chr12	54687231	54687232	rs10506328	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	12q13.13	NR	rs10506328-A	NR	5E-7		0.01	[0.004-0.012] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1002	chr12	54712307	54712308	rs10876550	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	12q13.13	COPZ1, NFE2, CBX5	rs10876550-G	NR	2E-14		0.008	[0.006-0.01] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1002	chr12	54736469	54736470	rs4326844	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Platelet count	7,943 African American children, 6,234 European ancestry children	NA	12q13.13	COPZ1	rs4326844-A	0.4493	5E-8	(EA)	8.679	[5.57-11.79] unit decrease	Illumina [544917]	N
1003	chr12	54909143	54909144	rs1629826	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q13.2	NCKAP1L	rs1629826-G	0.319	3E-6	(Urinary free epinephrine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
1005	chr12	55098995	55098996	rs1153188	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	12q13.2	DCD	rs1153188-A	0.73	2E-7		1.08	[1.05-1.11]	Affymetrix, Illumina [2202892] (imputed)	N
1007	chr12	55424915	55424916	rs1386809	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q13.2	NR	rs1386809-C	0.284827378378378	7E-6	(IGP20)	0.1576	[0.089-0.226] unit increase	Illumina [~ 2500000] (imputed)	N
1011	chr12	55916779	55916780	rs12230513	24152035	Goodbourn PT	2013-10-23	Genes Brain Behav	Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.	Contrast sensitivity	985 European ancestry individuals	NA	12q13.2	OR6C4, OR10P1, OR9K2, OR10A7, OR6C74, OR6C6, OR6C1, OR6C3, OR6C75, OR6C65, OR6C76, OR6C2, OR6C70, OR6C68	rs12230513-?	0.1822	5E-6		2.69	[NR] unit decrease	Illumina [642758]	N
1012	chr12	56070667	56070668	rs55874825	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	12q13.2	intergenic	rs55874825-?	NR	3E-7	(SF5)			Affymetrix [5476100] (imputed)	N
1013	chr12	56114768	56114769	rs3138144	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	12q13.2	RDH5	rs3138144-C	0.48	4E-12		0.119	[0.086-0.152] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1015	chr12	56364320	56364321	rs2069408	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	12q13.2	CDK2	rs2069408-C	0.23	1E-10		1.15	[1.10-1.20]	Illumina [458847]	N
1015	chr12	56390635	56390636	rs705702	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	12q13.2	RAB5B, SUOX	rs705702-G	0.245	9E-26		1.27	[NR]	Affymetrix [NR] (imputed)	N
1015	chr12	56394953	56394954	rs773125	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	12q13.2	CDK2	rs773125-A	0.65	1E-10		1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1015	chr12	56394953	56394954	rs773125	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	12q13.2	CDK2	rs773125-A	0.6	2E-8	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1015	chr12	56401084	56401085	rs10876864	22951725	Tang XF	2012-09-06	J Invest Dermatol	Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.	Vitiligo	1,117 Han Chinese ancestry cases, 1,701 Han Chinese ancestry controls	5,740 Han Chinese ancestry cases, 10,324 Han Chinese ancestry controls	12q13.2	PMEL, DGKA, CDK2, RAB5B, ZNFN1A4, PA2G4, SUOX, RPS26, ERBB3	rs10876864-G	0.24	8E-12		1.18	[1.13-1.24]	Illumina [493909]	N
1015	chr12	56408313	56408314	rs137948794	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12q13.2	NR	rs137948794-?	NR	2E-8	(Latino)	0.8728	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1015	chr12	56412486	56412487	rs1701704	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	12q13.2	IKZF4	rs1701704-T	NR	5E-18	(T1D)	1.25	[NR]	Affymetrix, Illumina [NR]	N
1015	chr12	56412486	56412487	rs1701704	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	12q13.2	IKZF4	rs1701704-G	0.18	2E-13		1.19	[1.14-1.25]	Illumina [458847]	N
1015	chr12	56412486	56412487	rs1701704	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	12q13.2	IKZF4	rs1701704-C	0.33	3E-8		1.34	[1.21-1.48]	Illumina [463301]	N
1015	chr12	56412486	56412487	rs1701704	18198356	Hakonarson H	2008-01-15	Diabetes	A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	946 European ancestry cases and 1,098 European ancestry controls from 549 families, 364 European ancestry trios	12q13.2	CDK2, RAB5B, SUOX, IKZF4, ERBB3	rs1701704-C	0.35	9E-10		1.25	[1.12-1.40]	Illumina [543071]	N
1015	chr12	56416927	56416928	rs2456973	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	12q13.2	IKZF4	rs2456973-C	0.35	3E-14		1.29	[NR]	Illumina [495821]	N
1015	chr12	56435928	56435929	rs1131017	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	12q13.2	RPS26	rs1131017-?	NR	4E-8	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1015	chr12	56439208	56439209	rs12580100	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	12q13.2	RPS26	rs12580100-A	NR	1E-7		1.284	[1.171-1.408]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1015	chr12	56439208	56439209	rs12580100	20953189	Stuart PE	2010-10-17	Nat Genet	Genome-wide association analysis identifies three psoriasis susceptibility loci.	Psoriasis	Up to 1,831 cases, up to 2,546 controls	Up to 4,064 cases, up to 4,685 controls	12q13.2	RPS26	rs12580100-A	0.90	1E-6		1.17	[NR]	Illumina, Perlegen [up to 7456344] (imputed)	N
1015	chr12	56470624	56470625	rs11171739	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	12q13.2	ERBB3	rs11171739-C	0.42	1E-11		1.34	[1.17-1.54]	Affymetrix [469557]	N
1015	chr12	56474142	56474143	rs34379766	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q13.2	ERBB3	rs34379766-A	0.064	5E-7	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1015	chr12	56480582	56480583	rs877636	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	12q13.2	SUOX, ERBB3, RAB5B, IKZF4, RPS26	rs877636-?	NR	3E-7		0.0313	[0.019-0.043] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
1015	chr12	56482179	56482180	rs2292239	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	12q13.2	ERBB3	rs2292239-T	NR	3E-27	(T1D)	1.3	[NR]	Affymetrix, Illumina [NR]	N
1015	chr12	56482179	56482180	rs2292239	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	12q13.2	ERBB3	rs2292239-?	NR	2E-25				Affymetrix, Illumina [841622] (imputed)	N
1015	chr12	56482179	56482180	rs2292239	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	12q13.2	ERBB3	rs2292239-A	NR	3E-16				Affymetrix [up to 335565]	N
1015	chr12	56482179	56482180	rs2292239	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	12q13.2	ERBB3	rs2292239-A	0.34	2E-20		1.28	[1.21-1.35]	Affymetrix [NR]	N
1015	chr12	56491879	56491880	rs10783779	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	12q13.2	intergenic	rs10783779-T	0.607	6E-6		0.021	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1016	chr12	56518407	56518408	rs11171747	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	12q13.2	RPL41, ESYT1	rs11171747-?	0.39	6E-8	(dcSSc)	1.23	[1.14-1.33]	Illumina [NR] (imputed)	N
1017	chr12	56680744	56680745	rs3816804	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	12q13.3	CS, STAT2	rs3816804-C	0.77	3E-9		0.123	[0.082-0.164] unit increase	Affymetrix [1532051] (imputed)	N
1017	chr12	56684496	56684501	rs36207871	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	12q13.3	CS	rs36207871-?	NR	3E-12	(Psoriasis)	1.47	[1.33-1.67]	Affymetrix, Illumina [~ 5200000]	N
1017	chr12	56709918	56709919	rs3809128	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	12q13.3	PAN2	rs3809128-T	0.21	7E-35		0.083	[0.065-0.101] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1017	chr12	56737972	56737973	rs2066808	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	12q13.3	IL23A, STAT2	rs2066808-A	NR	6E-10		1.477	[1.305-1.671]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1017	chr12	56737972	56737973	rs2066808	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	12q13.3	STAT2	rs2066808-A	0.9	9E-12		0.067	[0.038-0.096] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1017	chr12	56737972	56737973	rs2066808	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	12q13.3	IL23A	rs2066808-?	NR	2E-7		1.49	[1.28-1.73]	Illumina [535475]	N
1017	chr12	56737972	56737973	rs2066808	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	12q13.3	STAT2, IL23A	rs2066808-A	0.93	1E-9		1.34	[NR]	Perlegen [~ 2500000] (imputed)	N
1017	chr12	56740681	56740682	rs2066807	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	12q13.3	IL23A, STAT2	rs2066807-G	0.932351	5E-12		1.4	[1.27-1.54]	Illumina [up to 4778154] (imputed)	N
1017	chr12	56740681	56740682	rs2066807	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	12q13.3	IL23A, STAT2	rs2066807-G	0.932351	1E-10	(EA)	1.55	[1.35-1.77]	Illumina [up to 4778154] (imputed)	N
1017	chr12	56740681	56740682	rs2066807	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12q13.3	STAT2	rs2066807-C	0.93	1E-13		0.054	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1017	chr12	56744275	56744276	rs11575234	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	12q13.3	STAT2	rs11575234-?	NR	2E-12	(Psoriasis)	1.47	[1.32-1.64]	Affymetrix, Illumina [~ 5200000]	N
1018	chr12	56815280	56815281	rs2291738	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	12q13.3	GLS2, SPRYD4, TIMELESS, PAN2, STAT2, MIP, IL23A, APOF	rs2291738-T	0.554	4E-7		0.0518	[0.032-0.072] unit increase	Illumina [2500000] (imputed)	N
1018	chr12	56828055	56828056	rs11171846	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	12q13.3	TIMELESS	rs11171846-A		6E-10	(AA)			Illumina [NR]	N
1018	chr12	56863769	56863770	rs2657880	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	12q13.3	GLS2, SPRYD4	rs2657880-?	0.14	7E-30				Illumina [~ 2000000] (imputed)	N
1018	chr12	56865055	56865056	rs2638315	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	12q13.3	GLS2	rs2638315-?	NR	2E-35	(Gln, Glc)	0.29	[0.25-0.33] unit decrease	Illumina [~ 7700000] (imputed)	N
1018	chr12	56865337	56865338	rs2657879	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Amino acid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	12q13.3	GLS2	rs2657879-A	0.8097	2E-14	(Glutamine)	0.0342	[0.025-0.043] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1018	chr12	56865337	56865338	rs2657879	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12q13.3	GLS2	rs2657879-A	0.83	6E-19	(gamma-glutamylglutamine)	0.024	[0.018-0.03] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1018	chr12	56865337	56865338	rs2657879	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12q13.3	GLS2	rs2657879-A	0.82	6E-18	(glutamine)	0.015	[0.011-0.019] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1018	chr12	56865337	56865338	rs2657879	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	12q13.3	GLS2	rs2657879-G	0.187	3E-17	(glutamine + 7 other traits)	0.035	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1019	chr12	56912863	56912864	rs2694917	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	12q13.3	GLS2	rs2694917-T	0.81	2E-29	(glutamine/histidine)	0.018	[0.014-0.022] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1019	chr12	56938382	56938383	rs2657888	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	12q13.3	NR	rs2657888-T	NR	8E-6		0.019	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1020	chr12	57023283	57023284	rs941207	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	12q13.3	PTGES3, BAZ2A	rs941207-G	NR	2E-10		2.751	[1.91-3.6] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1020	chr12	57055290	57055291	rs2950390	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	12q13.3	PTGES3, BAZ2A	rs2950390-C	NR	7E-14		0.008	[0.006-0.01] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1020	chr12	57146068	57146069	rs2277339	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	12q13.3	PRIM1	rs2277339-G	0.102	2E-19		0.38	[0.3-0.46] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
1021	chr12	57204159	57204160	rs12367822	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	12q13.3	HSD17B6	rs12367822-T	0.277	1E-6	(collagen)			Affymetrix, Illumina [~ 2330000] (imputed)	N
1022	chr12	57305579	57305580	rs1391708	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	12q13.3	LOC100128944	rs1391708-?	NR	5E-7	(Males only)	0.06	[NR] unit increase	Illumina [522636]	N
1022	chr12	57320710	57320711	rs840163	25649651	Wang X	2015-02-03	J Alzheimers Dis	Genetic Determinants of Survival in Patients with Alzheimer's Disease.	Alzheimer's disease (survival time)	983 cases	NA	12q13.3	SDR9C7	rs840163-?		2E-6		1.4	[NR]	Illumina [803323]	N
1022	chr12	57377346	57377347	rs4759042	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	12q13.3	intergenic	rs4759042-?	0.63	3E-6		1.05	[1.03-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1023	chr12	57487813	57487814	rs324017	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q13.3	NR	rs324017-C	NR	3E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1023	chr12	57489708	57489709	rs1059513	23834954	Kobayashi D	2013-07-08	Mol Pain	Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.	Sensory disturbances after bilateral sagittal split ramus osteotomy	Up to 105 individuals	Up to 200 individuals	12q13.3	STAT6	rs1059513-?	NR	7E-6	(Hypoesthesia, Recessive)			Illumina [243229]	N
1023	chr12	57489708	57489709	rs1059513	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	12q13.3	STAT6	rs1059513-T	0.9	1E-14		1.3	[1.21-1.39]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1023	chr12	57489708	57489709	rs1059513	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	12q13.3	STAT6, NAB2	rs1059513-C	NR	2E-12		0.12	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
1023	chr12	57503774	57503775	rs167769	25407941	Sleiman PM	2014-11-19	Nat Commun	GWAS identifies four novel eosinophilic esophagitis loci.	Eosinophilic esophagitis	603 European ancestry cases, 3,637 European ancestry controls	333 European ancestry cases, 675 European ancestry controls	12q13.3	STAT6	rs167769-T	0.377	2E-7		1.351	[1.24-1.46]	Illumina [~ 2300000] (imputed)	N
1023	chr12	57503774	57503775	rs167769	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	12q13.3	STAT6	rs167769-T	0.37	2E-6		1.36	[1.10-1.69]	Illumina [~ 550000]	N
1023	chr12	57527282	57527283	rs11172113	25420145	Debette S	2014-11-24	Nat Genet	Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.	Cervical artery dissection	1,393 European ancestry cases, 14,416 European ancestry controls	659 European ancestry cases, 2,648 European ancestry controls	12q13.3	LRP1	rs11172113-T	0.61	3E-7		1.22	[1.12-1.32]	Illumina [472862]	N
1023	chr12	57527282	57527283	rs11172113	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	12q13.3	LRP1	rs11172113-?	0.57	1E-10		1.15	[1.1-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1023	chr12	57527282	57527283	rs11172113	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	12q13.3	LRP1	rs11172113-?	0.57	1E-6		1.12	[1.08-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1023	chr12	57527282	57527283	rs11172113	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	12q13.3	LRP1	rs11172113-?	0.57	4E-19		1.11	[1.09-1.14]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1023	chr12	57527282	57527283	rs11172113	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	12q13.3	LRP1	rs11172113-?	NR	8E-6	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
1023	chr12	57527282	57527283	rs11172113	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	12q13.3	LRP1	rs11172113-?	0.60	3E-8		1.16	[1.10-1.23]	Illumina [1246388] (imputed)	N
1023	chr12	57527282	57527283	rs11172113	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	12q13.3	LRP1	rs11172113-T	0.61	1E-8	(FEV1/FVC)	0.032	[0.020-0.044] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1023	chr12	57527282	57527283	rs11172113	21666692	Chasman DI	2011-06-12	Nat Genet	Genome-wide association study reveals three susceptibility loci for common migraine in the general population.	Migraine	5,122 European ancestry cases, 18,108 European ancestry controls	3,831 European ancestry cases, 13,889 European ancestry controls	12q13.3	LRP1	rs11172113-T	0.59	4E-9		1.11	[1.08-1.15]	Affymetrix, Illumina [2608509] (imputed)	N
1023	chr12	57534469	57534470	rs1466535	22055160	Bown MJ	2011-11-04	Am J Hum Genet	Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.	Abdominal aortic aneurysm	1,737 European ancestry cases, 5,435 European ancestry controls, 129 cases	2,320 European ancestry cases, 40,011 European ancestry controls, 2,042 cases, 3,736 controls	12q13.3	LRP1	rs1466535-C	0.58	5E-10		1.15	[1.10-1.21]	Illumina [535296]	N
1024	chr12	57622370	57622371	rs12826178	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q13.3	NR	rs12826178-G	NR	1E-11		1.1764705	[NR]	Illumina [7158791] (imputed)	N
1024	chr12	57622370	57622371	rs12826178	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	12q13.3	LRP1, MYO1A, NAB2, NDUFA4L2, NXPH4, R3HDM2, SHMT2, STAC3, STAT6, TAC3, TMEM194A	rs12826178-G	0.929	2E-12		1.1820331	[1.13-1.24]	Affymetrix, Illumina [9005918] (imputed)	N
1024	chr12	57645788	57645789	rs11172134	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	12q13.3	R3HDM2, INHBC	rs11172134-T	0.81	4E-8		0.078	[0.051-0.105] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1024	chr12	57645788	57645789	rs11172134	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	12q13.3	R3HDM2, INHBC	rs11172134-T	0.8	2E-7	(men)	0.095	[0.06-0.13] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1025	chr12	57792579	57792580	rs11613352	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	12q13.3	LRP1	rs11613352-T	0.26	9E-14		0.028	[NR] mg/dL decrease	NR [NR] (imputed)	N
1025	chr12	57792579	57792580	rs11613352	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	12q13.3	LRP1	rs11613352-T	0.26	2E-13		0.028	[NR] unit increase	NR [NR] (imputed)	N
1025	chr12	57792579	57792580	rs11613352	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	12q13.3	LRP1	rs11613352-T	0.23	4E-10		2.7	[1.86-3.54] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1025	chr12	57792579	57792580	rs11613352	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	12q13.3	LRP1	rs11613352-T	0.24	2E-8		0.46	[0.28-0.64] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1026	chr12	57809455	57809456	rs1106766	20884846	Yang Q	2010-09-30	Circ Cardiovasc Genet	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	Urate levels	28,283 European ancestry individuals	22,054 European ancestry individuals	12q13.3	INHBC, R3HDM2	rs1106766-T	0.23	2E-11	(Urate)	5.16	[3.65-6.67] umol/l decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1026	chr12	57839172	57839173	rs61352607	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	12q13.3	LRP1	rs61352607-G	0.73	1E-8		0.038	[0.024-0.052] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1026	chr12	57844048	57844049	rs3741414	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	12q13.3	INHBC, INHBE	rs3741414-T	0.24	2E-25		0.072	[0.058-0.085] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1027	chr12	57968714	57968715	rs1678542	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	12q13.3	KIF5A	rs1678542-?		1E-7		1.2	[1.12-1.28]	Affymetrix, Illumina [1831729] (imputed)	N
1027	chr12	57968714	57968715	rs1678542	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	12q13.3	KIF5A, PIP4K2C	rs1678542-C	0.37	9E-8		1.12	[NR]	Affymetrix, Illumina [at least 315971] (imputed)	N
1027	chr12	58062666	58062667	rs10876993	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	12q13.3	CDK4	rs10876993-?	NR	4E-6				Illumina [472854]	N
1028	chr12	58108051	58108052	rs1633360	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	12q14.1	CDK4	rs1633360-T	0.58	7E-8	(EA)	1.08	[1.05-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1028	chr12	58108051	58108052	rs1633360	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	12q14.1	CDK4	rs1633360-T	0.49	1E-7		1.07	[1.04-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1028	chr12	58133255	58133256	rs12368653	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	12q14.1	AGAP2, CYP27B1	rs12368653-A	NR	2E-9	(Conditioned on rs7238078)	1.1	[1.09-1.12]	Illumina [465434]	N
1028	chr12	58162738	58162739	rs703842	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	12q14.1	CYP27B1, METTL1	rs703842-A	0.67	5E-11		1.23	[NR]	Illumina [302098]	N
1033	chr12	58750679	58750680	rs1795708	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q14.1	ST13P8	rs1795708-G	0.178	4E-6	(Diet protein )	0.04	[NR] g/d increase	Illumina [899892]	N
1035	chr12	59066579	59066580	rs7968324	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	12q14.1	LRIG3	rs7968324-T	0.958	8E-7		0.01	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1037	chr12	59259627	59259628	rs11172782	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	12q14.1	LRIG3	rs11172782-?	0.29	7E-8	(AA)	1.46	[1.03-2.09]	Affymetrix, Illumina [2478304] (imputed)	N
1038	chr12	59440231	59440232	rs17121944	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	12q14.1	intergenic	rs17121944-?	NR	4E-6	(Dysthymic)	2.66	[NR] unit increase	Affymetrix [703012]	N
1040	chr12	59651224	59651225	rs4468442	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	12q14.1	SLC16A7	rs4468442-A	0.3	3E-6		0.00192	[0.0011-0.0027] unit decrease	Affymetrix [1219546] (imputed)	N
1041	chr12	59849676	59849677	rs276000	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	12q14.1	intergenic	rs276000-C	0.02	7E-7			[NR]	Affymetrix [398699]	N
1043	chr12	60086205	60086206	rs7976838	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	12q14.1	SLC16A7	rs7976838-?	NR	4E-7	(Recessive model)	2.32	unit decrease	Illumina [542562]	N
1048	chr12	60735172	60735173	rs7974425	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q14.1	intergenic	rs7974425-G	0.0050	9E-6	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1048	chr12	60735172	60735173	rs7974425	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q14.1	intergenic	rs7974425-G	0.0050	6E-6	(Weight )	0.03	[NR] kg increase	Illumina [899892]	N
1048	chr12	60735172	60735173	rs7974425	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q14.1	intergenic	rs7974425-G	0.0050	6E-6	(Hip circumference )	0.03	[NR] cm increase	Illumina [899892]	N
1048	chr12	60797702	60797703	rs10506410	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	12q14.1	FAM19A2	rs10506410-?	NR	2E-6	(dominant)			Affymetrix [361034]	N
1048	chr12	60810651	60810652	rs2655898	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q14.1	intergenic	rs2655898-G	0.246	8E-6	(Fat mass deposition )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1054	chr12	61549080	61549081	rs17124610	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q14.1	NR	rs17124610-C	0.983922182991986	8E-6	(IGP27)	0.6724	[0.38-0.97] unit decrease	Illumina [~ 2500000] (imputed)	N
1057	chr12	61907021	61907022	rs12370275	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	12q14.1	intergenic	rs12370275-?	NR	2E-6				Perlegen [1871025] (imputed)	N
1059	chr12	62234832	62234833	rs2198776	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q14.1	FAM19A2	rs2198776-A	0.284	5E-7	(BMI z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1059	chr12	62234832	62234833	rs2198776	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q14.1	FAM19A2	rs2198776-A	0.284	5E-6	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1059	chr12	62250419	62250420	rs17605016	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	12q14.1	FAM19A2	rs17605016-G		2E-6		1.1878	[1.12-1.26]	Illumina [up to 4972397] (imputed)	N
1060	chr12	62386599	62386600	rs11174267	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (moderate to severe)	5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls	2,651 cases and their relatives	12q14.1	FAM19A2	rs11174267-?	NR	8E-7	(AA)			Illumina [up to 701491] (imputed)	N
1061	chr12	62496277	62496278	rs141480969	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	12q14.1	FAM19A2	rs141480969-T		7E-6		372.96	[209.87-536.05] unit increase	Affymetrix, Illumina [at least 646791] (imputed)	N
1062	chr12	62558313	62558314	rs10784285	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	12q14.1	FAM19A2	rs10784285-?		9E-6	(AA)	4.1	[NR]	Illumina [936149]	N
1062	chr12	62610859	62610860	rs11615916	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	12q14.1	USP15	rs11615916-?	NR	7E-6	(FEV1/FVC decline in asthmatics)	0.2378	[0.13-0.34] unit increase	Illumina [~ 2500000] (imputed)	N
1063	chr12	62743347	62743348	rs11174436	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Pyoderma gangrenosum in inflammatory bowel disease	92 European ancestry cases, 5,664 European ancestry controls	NA	12q14.1	FAM19A, USP15, MON2	rs11174436-A	NR	5E-6		2.3	[1.60-3.40]	Illumina [2017629] (imputed)	N
1064	chr12	62818480	62818481	rs10877839	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q14.1	NR	rs10877839-C	0.32479838824577	9E-6	(IGP31)	0.1459	[0.082-0.21] unit decrease	Illumina [~ 2500000] (imputed)	N
1064	chr12	62886122	62886123	rs7301016	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q14.1	NR	rs7301016-G	0.206214031137184	8E-6	(IGP73)	0.1687	[0.095-0.243] unit decrease	Illumina [~ 2500000] (imputed)	N
1065	chr12	63004582	63004583	rs7302017	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Waist circumference	1,779 Filipino ancestry females	NA	12q14.1	PPM1H	rs7302017-G	0.46	5E-6		1.71	[0.97-2.45] cm increase	Affymetrix [2073674] (imputed)	N
1067	chr12	63180815	63180816	rs549433	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q14.2	PPM1H	rs549433-G	0.183	4E-6	(Total energy expenditure )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1069	chr12	63445091	63445092	rs10506458	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	12q14.2	intergenic	rs10506458-?	0.13	5E-6	(pltcoll)			Affymetrix [70897]	N
1069	chr12	63445961	63445962	rs10877945	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q14.2	LOC121498	rs10877945-A	0.304	7E-6	(Fat free mass change )	0.03	[NR] kg/y increase	Illumina [899892]	N
1075	chr12	64264836	64264837	rs11175194	25134534	Chen K	2014-08-19	Nat Commun	Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.	Epithelial ovarian cancer	1,044 Han Chinese ancestry cases, 1,172 Han Chinese ancestry controls	1,452 Han Chinese ancestry cases, 2,803 Han Chinese ancestry controls	12q14.2	SRGAP1	rs11175194-G	0.59	1E-7		1.19	[1.02-1.39]	Illumina [710714]	N
1077	chr12	64606438	64606439	rs790006	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	12q14.2	FLJ32549	rs790006-?		8E-6				Affymetrix, Illumina [1348798]	N
1078	chr12	64727455	64727456	rs7487873	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12q14.2	NR	rs7487873-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1080	chr12	64917041	64917042	rs150695384	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	12q14.2	TBK-1	rs150695384-C	0.99	5E-7	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1082	chr12	65252117	65252118	rs939876	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	12q14.3	TBC1D30	rs939876-?	NR	2E-6	(TrailsB)			Illumina [up to 563855]	N
1084	chr12	65534623	65534624	rs6581612	22504421	Bis JC	2012-04-15	Nat Genet	Common variants at 12q14 and 12q24 are associated with hippocampal volume.	Hippocampal volume	9,232 European ancestry individuals	2,318 European ancestry individuals	12q14.3	WIF1	rs6581612-C	0.27	7E-11		63.3	[44.29-82.31] mm3 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1086	chr12	65718298	65718299	rs17178006	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	12q14.3	MSRB3	rs17178006-?	NR	3E-7	(Hippocampus, EA)	44.27	[27.43-61.11] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1086	chr12	65718298	65718299	rs17178006	22504421	Bis JC	2012-04-15	Nat Genet	Common variants at 12q14 and 12q24 are associated with hippocampal volume.	Hippocampal volume	9,232 European ancestry individuals	2,318 European ancestry individuals	12q14.3	MSRB3	rs17178006-G	0.10	5E-11		123.8	[86.76-160.84] mm3 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1086	chr12	65762057	65762058	rs12229918	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		12q14.3	MSRB3	rs12229918-C	NR	7E-14		0.218	[0.16-0.27] unit decrease	Illumina [2446724] (imputed)	N
1086	chr12	65762057	65762058	rs12229918	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		12q14.3	MSRB3	rs12229918-C	NR	2E-9		0.149	[0.1-0.198] unit increase	Illumina [2446724] (imputed)	N
1086	chr12	65783377	65783378	rs10506525	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (time to first tooth eruption)	5,919 European ancestry related individuals	NA	12q14.3	MSRB3	rs10506525-C	0.27	6E-9		0.46	[NR] % variance	Illumina [300766]	N
1086	chr12	65783377	65783378	rs10506525	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (number of teeth)	5,752 European ancestry related individuals	NA	12q14.3	MSRB3	rs10506525-C	0.27	9E-7		0.18	% variance	Illumina [300766]	N
1087	chr12	65832467	65832468	rs61921502	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	12q14.3	MSRB3	rs61921502-T	0.84	7E-11	(Hippocampus, EA)	39.9	[27.90-51.90] mm3 increase	Affymetrix, Illumina [NR] (imputed)	N
1087	chr12	65842257	65842258	rs1494508	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	12q14.3	MSRB3	rs1494508-A	0.479	2E-6	(Novelty seeking)	0.2	unit decrease	Affymetrix, Illumina [1252222] (imputed)	N
1089	chr12	66117557	66117558	rs2358944	21150874	McDonough CW	2010-12-08	Kidney Int	A genome-wide association study for diabetic nephropathy genes in African Americans.	Type 2 diabetes nephropathy	965 African American cases, 1,029 African American controls	709 African American cases, 690 African American controls	12q14.3	HMGA2, MSRB3	rs2358944-G	0.77	4E-6		1.33	[1.18-1.49]	Affymetrix [832357]	N
1089	chr12	66160970	66160971	rs10784496	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal AB1-42 levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	12q14.3	intergenic	rs10784496-G	NR	3E-7	(Controls)			Illumina [498205]	N
1089	chr12	66174893	66174894	rs1531343	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	12q14.3	HMGA2	rs1531343-C		4E-9		1.1	[1.07-1.14]	Affymetrix, Illumina [2426886] (imputed)	N
1089	chr12	66185089	66185090	rs17766408	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q14.3	NR	rs17766408-T	NR	4E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
1090	chr12	66212317	66212318	rs2261181	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	12q14.3	HMGA2	rs2261181-T	0.09	4E-8		1.16	[1.10-1.23]	Affymetrix, Illumina [2500000] (imputed)	N
1090	chr12	66224460	66224461	rs2272046	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	12q14.3	HMGA2	rs2272046-A	0.907	2E-21		1.43	[NR]	Affymetrix [NR] (imputed)	N
1090	chr12	66227256	66227257	rs7979673	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	12q14.3	HMGA2	rs7979673-T	0.32	7E-10		0.058	[0.038-0.078] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1090	chr12	66250939	66250940	rs343092	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	12q14.3	HMGA2	rs343092-T	0.81	9E-9	(AA)	1.16	[1.1-1.22]	Affymetrix, Illumina [2579389] (imputed)	N
1090	chr12	66250939	66250940	rs343092	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	12q14.3	HMGA2	rs343092-T	0.81	3E-12		1.14	[1.10-1.19]	Affymetrix, Illumina [2579389] (imputed)	N
1091	chr12	66338201	66338202	rs17101923	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		12q14.3	HMGA2	rs17101923-G	NR	6E-11		0.212	[0.15-0.28] unit decrease	Illumina [2446724] (imputed)	N
1091	chr12	66338201	66338202	rs17101923	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		12q14.3	HMGA2	rs17101923-G	NR	1E-10		0.182	[0.13-0.24] unit increase	Illumina [2446724] (imputed)	N
1091	chr12	66343809	66343810	rs10784502	22504417	Stein JL	2012-04-15	Nat Genet	Identification of common variants associated with human hippocampal and intracranial volumes.	Brain structure	2,020 European ancestry neuropsychiatric disorder cases, 5,775 European ancestry controls	599 European ancestry neuropsychiatric disorder cases, 11,915 European ancestry controls, 143 European ancestry and African American neuropsychiatric disorder cases, 94 European ancestry and African American controls, 605 Hispanic controls	12q14.3	HMGA2	rs10784502-C	0.49	1E-12	(Intracranial volume)	9006.71	[6525.78-11487.64] mm3 increase	Affymetrix, Illumina [NR] (imputed)	N
1091	chr12	66351825	66351826	rs1351394	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Birth length	28,459 European ancestry individuals	16,145 European ancestry individuals, 280 Moroccan ancestry individuals, 284 Surinamese ancestry individuals, 319 Turkish ancestry individuals, 651 Chinese ancestry individuals	12q14.3	HMGA2	rs1351394-T	0.498	7E-7		0.044	[0.026-0.062] unit increase	Affymetrix, Illumina [2201971] (imputed)	N
1091	chr12	66351825	66351826	rs1351394	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	12q14.3	HMGA2	rs1351394-T	0.49	7E-32		1.26	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1091	chr12	66351825	66351826	rs1351394	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12q14.3	HMGA2	rs1351394-T	0.49	2E-65		0.06	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1091	chr12	66358346	66358347	rs1042725	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	12q14.3	HMGA2	rs1042725-T	0.73	2E-7		0.024	[0.01-0.038] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1091	chr12	66358346	66358347	rs1042725	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	12q14.3	HMGA2	rs1042725-T	0.50	1E-19		0.047	[0.037-0.057] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
1091	chr12	66358346	66358347	rs1042725	22504419	Taal HR	2012-04-15	Nat Genet	Common variants at 12q15 and 12q24 are associated with infant head circumference.	Head circumference (infant)	10,768 European ancestry infants	8,321 European ancestry infants	12q14.3	HMGA2	rs1042725-T	0.49	3E-10		0.065	[0.045-0.085] SD decrease	Affymetrix, Illumina [~ 2400000] (imputed)	N
1091	chr12	66358346	66358347	rs1042725	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	12q14.3	HMGA2	rs1042725-C	0.49	3E-18		0.05	[0.03-0.08] s.d. increase (males)	Affymetrix [402951]	N
1091	chr12	66358346	66358347	rs1042725	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	12q14.3	HMGA2	rs1042725-T	0.49	3E-20		0.48	[0.58-1.09] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
1091	chr12	66358346	66358347	rs1042725	17767157	Weedon MN	2007-09-02	Nat Genet	A common variant of HMGA2 is associated with adult and childhood height in the general population.	Height	4,921 European ancestry individuals	19,064 European ancestry adult individuals, 6,827 European ancestry children	12q14.3	HMGA2	rs1042725-C	0.51	6E-16		0.4	[NR] cm increase	Affymetrix [364301]	N
1091	chr12	66359751	66359752	rs8756	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12q14.3	HMGA2	rs8756-A	0.508	5E-90		0.059	[0.053-0.065] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1091	chr12	66359751	66359752	rs8756	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Height	11,536 European ancestry individuals	NA	12q14.3	HMGA2	rs8756-A	0.51	4E-7		0.07	[0.03-0.11] SD decrease	Illumina [559712] (imputed)	N
1091	chr12	66359751	66359752	rs8756	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	12q14.3	HMGA2	rs8756-?	0.17	5E-14		0.08	[0.06-0.10] s.d. decrease	Illumina [229216]	N
1091	chr12	66359751	66359752	rs8756	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	12q14.3	HMGA2	rs8756-C	0.52	2E-16		6.6	[5.03-8.17] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1091	chr12	66360163	66360164	rs7970350	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	12q14.3	HMGA2	rs7970350-T	0.49	3E-8		0.047	[0.029-0.065] unit decrease	Affymetrix, Illumina [2193675] (imputed)	N
1091	chr12	66364508	66364509	rs12424086	21931568	Geller F	2011-09-08	PLoS Genet	Genome-wide association study identifies four loci associated with eruption of permanent teeth.	Permanent tooth development	5,088 European ancestry females	2,994 European ancestry individuals, 161 individuals	12q14.3	HMGA2	rs12424086-C	0.18	2E-12		0.111	[0.08-0.14] unit decrease	Illumina [521741]	N
1091	chr12	66364508	66364509	rs12424086	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (time to first tooth eruption)	5,919 European ancestry related individuals	NA	12q14.3	HMGA2	rs12424086-C	0.23	8E-6		0.29	[NR] % variance	Illumina [300766]	N
1091	chr12	66364508	66364509	rs12424086	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (number of teeth)	5,752 European ancestry related individuals	NA	12q14.3	HMGA2	rs12424086-C	0.23	4E-6		0.22	% variance	Illumina [300766]	N
1091	chr12	66371879	66371880	rs7968682	22021425	Carty CL	2011-10-21	Hum Mol Genet	Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).	Height	8,149 African American female individuals	Up to 20,809 African American and African ancestry individuals	12q14.3	HMGA2	rs7968682-T	0.58	4E-10		0.043	[0.025-0.061] unit decrease	Affymetrix [855034]	N
1091	chr12	66389967	66389968	rs10400419	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	12q14.3	HMGA2	rs10400419-T	0.3837	2E-7		0.0562	[0.035-0.078] unit increase	Illumina [2500000] (imputed)	N
1091	chr12	66394663	66394664	rs4026608	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Aortic root size	12,612 European ancestry individuals	4,094 European ancestry individuals	12q14.3	HMGA2	rs4026608-C	0.38	2E-9		0.03	[0.02-0.04] cm decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1093	chr12	66633163	66633164	rs17826057	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	12q14.3	IRAK3	rs17826057-A	0.0503	3E-7		2.65	[NR] unit increase	Illumina [1216189] (imputed)	N
1094	chr12	66816138	66816139	rs10748045	24964207	Mullins N	2014-06-25	Am J Med Genet B Neuropsychiatr Genet	Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.	Suicidal ideation in depression or bipolar disorder	237 European ancestry cases, 510 European ancestry controls	NA	12q14.3	NR	rs10748045-G	0.354	1E-6		1.78	[1.41-2.25]	Illumina [494742]	N
1095	chr12	66904522	66904523	rs7956611	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Age of smoking initiation	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	12q14.3	NR	rs7956611-?		2E-6				Illumina [1211988] (imputed)	N
1100	chr12	67593840	67593841	rs10878577	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q14.3	NR	rs10878577-A	NR	6E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1100	chr12	67628830	67628831	rs1082714	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	12q14.3	CAND1	rs1082714-?	NR	5E-6				Illumina [516645]	N
1102	chr12	67852783	67852784	rs11176749	25226531	St Pourcain B	2014-09-16	Nat Commun	Common variation near ROBO2 is associated with expressive vocabulary in infancy.	Expressive vocabulary in infants	6,851 European ancestry 15-18-month-old children, 6,299 European ancestry 24-30-month-old children	2,038 European ancestry 15-18-month-old children, 4,520 European ancestry 24-30-month-old children	12q15	CAND1	rs11176749-T	0.11	7E-7	(15-18 months)	0.12	[0.073-0.167] unit decrease	Illumina [2449665] (imputed)	N
1107	chr12	68499985	68499986	rs7134472	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q15	NR	rs7134472-A	0.3855	6E-37	(EA)	1.1745031	[1.15-1.2]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1107	chr12	68499985	68499986	rs7134472	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q15	NR	rs7134472-A	0.3855	2E-6	(EA)	1.0596101	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1107	chr12	68500074	68500075	rs7134599	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	12q15	IFNG, IL26, IL22	rs7134599-A	0.378	9E-32		1.096	[1.064-1.128]	Affymetrix, Illumina [1230000] (imputed)	N
1107	chr12	68500074	68500075	rs7134599	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	12q15	IFNG, IL26	rs7134599-A	0.39	1E-16		1.19	[1.19-1.24]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1107	chr12	68503835	68503836	rs12318183	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q15	NR	rs12318183-?	NR	2E-27	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1107	chr12	68504591	68504592	rs1558744	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	12q15	IFNG, IL26	rs1558744-A	NR	4E-12		1.2	[NR]	Illumina [266047]	N
1107	chr12	68504591	68504592	rs1558744	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	12q15	IFNG, IL26, IL22	rs1558744-A	0.38	3E-12		1.35		Illumina [280748]	N
1107	chr12	68532076	68532077	rs12321565	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	12q15	NR	rs12321565-?	NR	5E-6		1.3481	[NR]	Affymetrix [722112]	N
1108	chr12	68596660	68596661	rs2870946	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	12q15	IL26	rs2870946-G	0.055	5E-7		1.54		Illumina [280748]	N
1109	chr12	68779412	68779413	rs416350	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	12q15	MDM1	rs416350-?	NR	4E-8	(Hyperthymic)	2.1	[NR] unit increase	Affymetrix [703012]	N
1111	chr12	68955571	68955572	rs150516896	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	12q15	NR	rs150516896-?	NR	4E-6				NR [up to 8466825] (imputed)	N
1111	chr12	68956184	68956185	rs114588203	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	12q15	NR	rs114588203-?	NR	3E-6				NR [up to 8466825] (imputed)	N
1111	chr12	68957163	68957164	rs116075389	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	12q15	NR	rs116075389-?	NR	3E-6				NR [up to 8466825] (imputed)	N
1111	chr12	68961583	68961584	rs12313946	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	12q15	RAP1B, NUP107, SLC35E3	rs12313946-C	0.47	3E-8		0.065	[0.041-0.089] unit increase	Illumina [561583]	N
1114	chr12	69370755	69370756	rs9943849	20673876	Rietschel M	2010-07-29	Biol Psychiatry	Genome-wide association-, replication-, and neuroimaging study implicates HOMER1 in the etiology of major depression.	Major depressive disorder	597 European ancestry cases, 1,295 European ancestry controls	409 European ancestry cases, 541 European ancestry controls	12q15	CPM	rs9943849-T	0.73	3E-6		1.37	[1.20-1.56]	Illumina [491238]	N
1114	chr12	69397788	69397789	rs57514780	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12q15	NR	rs57514780-?	NR	1E-7		0.3512	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1115	chr12	69504082	69504083	rs73329476	24986923	Chu M	2014-07-01	Hum Mol Genet	A genome-wide association study identifies susceptibility loci of silica related pneumoconiosis in Han Chinese.	Pneumoconiosis in silica exposure	202 Han Chinese ancestry cases, 198 Han Chinese ancestry controls	490 Han Chinese ancestry cases, 541 Han Chinese ancestry controls	12q15	MDM2, CPSF6, CPM	rs73329476-T	0.102	2E-8		2.17	[1.66 - 2.85]	Illumina [710999] (imputed)	N
1115	chr12	69523922	69523923	rs10784762	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QRS duration	455 African American individuals	NA	12q15	intergenic	rs10784762-T		6E-6		2.38	[NR] ms decrease	Illumina [> 930000]	N
1115	chr12	69581221	69581222	rs12367448	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q15	NR	rs12367448-C	0.831671480195817	6E-6	(IGP57)	0.2468	[0.14-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
1116	chr12	69727189	69727190	rs317689	18591461	Turner ST	2008-06-30	Hypertension	Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic.	Response to diuretic therapy	97 African American good response individuals, 97 African American poor response individuals, 98 European ancestry good response individuals, 97 European ancestry poor response individuals	NA	12q15	FRS2, LYZ, YEATS4	rs317689-?,rs315135-?,rs7297610-?	NR	3E-7	(blacks)			Affymetrix [up to 102334]	N
1117	chr12	69762986	69762987	rs315135	18591461	Turner ST	2008-06-30	Hypertension	Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic.	Response to diuretic therapy	97 African American good response individuals, 97 African American poor response individuals, 98 European ancestry good response individuals, 97 European ancestry poor response individuals	NA	12q15	FRS2, LYZ, YEATS4	rs317689-?,rs315135-?,rs7297610-?	NR	3E-7	(blacks)			Affymetrix [up to 102334]	N
1117	chr12	69824023	69824024	rs7297610	18591461	Turner ST	2008-06-30	Hypertension	Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic.	Response to diuretic therapy	97 African American good response individuals, 97 African American poor response individuals, 98 European ancestry good response individuals, 97 European ancestry poor response individuals	NA	12q15	FRS2, LYZ, YEATS4	rs317689-?,rs315135-?,rs7297610-?	NR	3E-7	(blacks)			Affymetrix [up to 102334]	N
1117	chr12	69827657	69827658	rs10748128	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	12q15	FRS2	rs10748128-T	0.63	7E-7		0.029	[0.015-0.043] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1117	chr12	69827657	69827658	rs10748128	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12q15	FRS2	rs10748128-T	0.352	4E-29		0.038	[0.032-0.044] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1117	chr12	69827657	69827658	rs10748128	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	12q15	FRS2	rs10748128-T	0.35	7E-15		1.19	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1117	chr12	69827657	69827658	rs10748128	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12q15	FRS2	rs10748128-T	0.35	2E-20		0.038	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1117	chr12	69828680	69828681	rs11177669	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	12q15	FRS2, LYZ, YEATS4, CPSF6, CCT2, LRRC10	rs11177669-A	0.31	3E-6		4.5	[2.54-6.46] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1119	chr12	70054909	70054910	rs1373453	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	12q15	NR	rs1373453-?	NR	2E-6	(Meta-All, NSCL/P)			NR [497084]	N
1121	chr12	70331826	70331827	rs789560	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	12q15	C12orf28	rs789560-G	0.87	7E-6				Perlegen [378332]	N
1124	chr12	70690084	70690085	rs2904524	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	12q15	CNOT2	rs2904524-T	0.13	5E-6	(Joint)			Illumina [254145]	N
1126	chr12	70954463	70954464	rs17108344	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	12q15	PTPRB	rs17108344-?		3E-8	(EA)	25.3	[NR]	Illumina [936149]	N
1128	chr12	71249995	71249996	rs12229663	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	12q15	PTPRR	rs12229663-G	0.27	5E-9		0.099	[0.066-0.132] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1128	chr12	71289555	71289556	rs4760854	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q15	NR	rs4760854-G	0.270106625167935	9E-6	(IGP11)	0.1574	[0.088-0.227] unit decrease	Illumina [~ 2500000] (imputed)	N
1131	chr12	71577100	71577101	rs1495377	22137330	Sanchez-Juan P	2011-11-30	Neurobiol Aging	Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.	Creutzfeldt-Jakob disease (variant)	93 European ancestry cases, 1,504 European ancestry controls	42 European ancestry cases	12q21.1	NR	rs1495377-?	NR	2E-6				Affymetrix [287554]	N
1131	chr12	71577100	71577101	rs1495377	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	(see Zeggini 2007)	12q21.1	NR	rs1495377-G	0.50	7E-6		1.28	[1.11-1.49]	Affymetrix [469557]	N
1131	chr12	71634793	71634794	rs4760790	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	12q21.1	LGR5, TSPAN8	rs4760790-A		4E-6		1.11	[1.06-1.16]	Affymetrix, Illumina [2426886] (imputed)	N
1131	chr12	71663101	71663102	rs7961581	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	12q21.1	LGR5, TSPAN8	rs7961581-C	0.27	1E-9		1.09	[1.06-1.12]	Affymetrix, Illumina [2202892] (imputed)	N
1134	chr12	72071044	72071045	rs10748180	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	12q21.1	THAP2	rs10748180-G	NR	5E-6		0.123	[0.070-0.176] unit decrease	Illumina [628922]	N
1135	chr12	72125284	72125285	rs11178918	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	12q21.1	intergenic	rs11178918-G	NR	8E-6		0.184	[0.1-0.26] unit decrease	Illumina [628922]	N
1137	chr12	72414562	72414563	rs10879357	23300701	Jiao S	2012-12-26	PLoS One	Genome-wide search for gene-gene interactions in colorectal cancer.	Colorectal cancer	8,380 European ancestry cases, 10,558 European ancestry controls	2,527 European ancestry cases, 2,628 European ancestry controls	12q21.1	intergenic	rs10879357-?	0.62	3E-6	(rs1571218, novel)	1.25	[1.14-1.39]	Illumina [2011668]	N
1139	chr12	72617858	72617859	rs11179118	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12q21.1	NR	rs11179118-?	NR	2E-6		0.3063	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1139	chr12	72724033	72724034	rs12831974	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	12q21.1	TRHDE	rs12831974-?		6E-6		1.27	[1.14-1.40]	Illumina [441398]	N
1143	chr12	73163150	73163151	rs10879490	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	12q21.1	TRHDE	rs10879490-A		9E-6		0.14	[0.08-0.21] unit increase	Affymetrix [~ 2500000] (imputed)	N
1144	chr12	73307581	73307582	rs10879517	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	12q21.1	AC131213.4	rs10879517-?	NR	4E-6	(TrailsA)			Illumina [up to 563855]	N
1146	chr12	73601131	73601132	rs11615274	22417934	Athanasiu L	2012-03-12	Psychiatry Res	Genome-wide association study identifies genetic loci associated with body mass index and high density lipoprotein-cholesterol levels during psychopharmacological treatment - a cross-sectional naturalistic study.	Body mass index and cholesterol (psychopharmacological treatment)	283 European ancestry schizophrenia cases, 213 European ancestry bipolar disorder cases, 98 European ancestry psychosis cases	NA	12q21.1	intergenic	rs11615274-?	NR	9E-8	(HDL-C)		[NR]	Affymetrix [608239]	N
1148	chr12	73828955	73828956	rs7963521	20237162	Bozaoglu K	2010-03-17	J Clin Endocrinol Metab	Chemerin, a novel adipokine in the regulation of angiogenesis.	Chemerin levels	858 Mexican American family members and individuals	NA	12q21.1	TRHDE	rs7963521-?	NR	9E-6				Illumina [542944]	N
1149	chr12	73989836	73989837	rs1154865	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Breast cancer	58 cases, 665 controls	NA	12q21.1	intergenic	rs1154865-?	NR	7E-7				Affymetrix [70897]	N
1150	chr12	74087807	74087808	rs7964120	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q21.1	RPL31P48	rs7964120-A	0.317	5E-6	(TNF-a )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1153	chr12	74471339	74471340	rs2303970	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	12q21.1	LOC552889, TRHDE	rs2303970-?	NR	9E-6		1.61	[1.32-2.00]	Illumina [534390]	N
1154	chr12	74586209	74586210	rs10506701	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Bone mineral density	Up to 1,141 individuals from 241 families	NA	12q21.1	intergenic	rs10506701-?	NR	1E-6	(TRBMD)			Affymetrix [70897]	N
1157	chr12	75054592	75054593	rs7311660	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q21.1	LOC387869	rs7311660-G	0.397	4E-6	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1162	chr12	75718422	75718423	rs12318506	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	12q21.2	CAPS2	rs12318506-T	0.18	8E-6	(AA)	0.21	[0.11-0.31] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1165	chr12	76064527	76064528	rs12582659	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Cu levels)	2,603 European ancestry individuals	NA	12q21.2	KRR1, PHLDA1	rs12582659-?	NR	3E-6		1.262	[0.73-1.79] unit increase	Illumina [> 2500000] (imputed)	N
1166	chr12	76220617	76220618	rs7307780	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	12q21.2	intergenic	rs7307780-?	0.19	5E-15	(Recessive)	1.45	[1.33-1.59]	Affymetrix [319222]	N
1166	chr12	76272676	76272677	rs1690139	25234806	Dijkstra AE	2014-09-18	Eur Respir J	Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.	Chronic mucus hypersecretion	342 European ancestry cases, 1,006 European ancestry controls	130 European ancestry cases, 2,313 European ancestry controls	12q21.2	LOC100130336, LOC100131830	rs1690139-G	0.11	6E-6		1.67	[NR]	Illumina [522636]	N
1168	chr12	76476955	76476956	rs1368578	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q21.2	NAP1L1	rs1368578-A	0.072	1E-6	(HRmax )	0.04	[NR] bpm increase	Illumina [899892]	N
1169	chr12	76627444	76627445	rs11104268	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	12q21.2	intergenic	rs11104268-?		7E-6	(SG)	0.33	[0.17-0.49] unit increase	Illumina [693128]	N
1172	chr12	77009059	77009060	rs2669010	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	12q21.2	RPL7AP59	rs2669010-A	0.40	5E-6	(anti-dsDNA -)	1.28	[1.16-1.42]	Illumina [421318] (imputed)	N
1173	chr12	77133804	77133805	rs10862476	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q21.2	NR	rs10862476-G	NR	8E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1178	chr12	77729384	77729385	rs1402279	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	12q21.2	intergenic	rs1402279-?	0.95	5E-6	(EVNV)	1.51	[NR]	Illumina [~ 518000]	N
1178	chr12	77738004	77738005	rs6538140	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	12q21.2	E2F7	rs6538140-G	0.74	4E-6		4.3478	[NR]	Affymetrix [up to 4467279] (imputed)	N
1179	chr12	77899509	77899510	rs17788937	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		12q21.2	intergenic	rs17788937-?	0.786	4E-15			[NR]	Affymetrix, Illumina [152234]	N
1183	chr12	78485993	78485994	rs300489	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	12q21.2	NAV3	rs300489-A	0.23	5E-6		0.03	[NR] unit increase	Illumina [2380486] (imputed)	N
1185	chr12	78772438	78772439	rs148621641	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	12q21.2	intergenic	rs148621641-A		4E-6		425.19	[243.93-606.45] unit increase	Affymetrix, Illumina [at least 646791] (imputed)	N
1191	chr12	79539758	79539759	rs113641325	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	12q21.2	NR	rs113641325-C	0.126	6E-6		1.98	[1.47-2.67]	Illumina [7261187] (imputed)	N
1193	chr12	79775247	79775248	rs11114027	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q21.2	SYT1	rs11114027-A	0.094	3E-6	(Diet protein )	0.03	[NR] %energy increase	Illumina [899892]	N
1193	chr12	79811428	79811429	rs7310309	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	12q21.2	NR	rs7310309-T	0.15	9E-6		1.83	[1.40-2.39]	Illumina [7261187] (imputed)	N
1195	chr12	80062229	80062230	rs7297018	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	12q21.2	PAWR	rs7297018-A	0.19	4E-6				Perlegen [378332]	N
1198	chr12	80463083	80463084	rs10778699	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	12q21.31	PPP1R12A	rs10778699-A	0.24	4E-6	(AA-glucose response)	4.28	[2.46-6.1] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1199	chr12	80496922	80496923	rs10506821	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	12q21.31	intergenic	rs10506821-?	NR	2E-7	(ShaftW1f)			Affymetrix [70897]	N
1205	chr12	81337457	81337458	rs1163656	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	12q21.31	LIN7A	rs1163656-?	NR	9E-6	(Comparatively Older)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1206	chr12	81475632	81475633	rs7138951	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-42)	3,528 European ancestry individuals	NA	12q21.31	ACSS3	rs7138951-G	0.094	5E-6		0.12	[0.061-0.179] unit increase	Illumina [2316178] (imputed)	N
1206	chr12	81494251	81494252	rs12296937	25352737	Ritchie MD	2014-09-19	Mol Vis	Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.	Age-related cataracts (age at onset)	5,503 European, Black, and other ancestry cases age 50 and older	NA	12q21.31	LIN7A, ACSS3, PPFIA2	rs12296937-G	0.0267	6E-7		1.08	[NR] unit decrease	Illumina [530101]	N
1207	chr12	81544535	81544536	rs10492002	23726668	Hunter AM	2013-05-30	J Psychiatr Res	A genome-wide association study of a sustained pattern of antidepressant response.	Response to antidepressant treatment (citalopram)	869 European, Hispanic, African American, Asian, mixed race and other ancestry sustained response individuals, 247 European, Hispanic, African American, Asian, mixed race and other ancestry unsustained response individuals	394 European ancestry sustained response individuals, 191 European ancestry unsustained response individuals	12q21.31	ACSS3	rs10492002-?	NR	4E-6		1.64	[1.33-2.00]	Affymetrix [430198]	N
1209	chr12	81843127	81843128	rs12426725	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	12q21.31	PPFIA2	rs12426725-?	NR	4E-6	(EA)	1.37	[NR]	Illumina [up to 531195]	N
1210	chr12	81932980	81932981	rs2400954	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	12q21.31	PPFIA2	rs2400954-C	0.37	4E-6		1.2345679	[1.16-1.31]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
1211	chr12	82090615	82090616	rs2066955	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	12q21.31	intergenic	rs2066955-A	0.237	5E-6		0.023	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1213	chr12	82389123	82389124	rs11115148	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	12q21.31	intergenic	rs11115148-?		2E-6				NR [~ 3000000] (imputed)	N
1214	chr12	82462225	82462226	rs7137515	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q21.31	NR	rs7137515-G	0.260927853582555	6E-6	(IGP76)	0.1637	[0.093-0.235] unit decrease	Illumina [~ 2500000] (imputed)	N
1216	chr12	82748338	82748339	rs143136847	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	12q21.31	CCDC59	rs143136847-G	0.007	6E-8		2.6	[NR]	Illumina [8207076] (imputed)	N
1218	chr12	82984878	82984879	rs12425131	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	12q21.31	TMTC2	rs12425131-?		2E-6	(EA)			Illumina [NR]	N
1218	chr12	83019187	83019188	rs11115322	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	12q21.31	TMTC2	rs11115322-?		3E-6	(EA)			Illumina [NR]	N
1219	chr12	83164555	83164556	rs12317459	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	12q21.31	TMTC2	rs12317459-?	NR	4E-6	(rs16901979)	2.06	[1.52-2.80]	Affymetrix, Illumina [1117531] (imputed)	N
1225	chr12	83922911	83922912	rs10862688	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	12q21.31	TMTC2	rs10862688-G	NR	1E-11		0.008	[0.0060-0.0100] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1225	chr12	84008274	84008275	rs2403106	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	12q21.31	TMTC2	rs2403106-?	0.07	3E-6		2.48	[1.70-3.61]	Illumina [346110]	N
1226	chr12	84061430	84061431	rs1511589	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	12q21.31	TMTC2	rs1511589-A	0.46	9E-8	(EA)	0.028	[0.018-0.038] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1226	chr12	84061430	84061431	rs1511589	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	12q21.31	TMTC2	rs1511589-A	0.46	1E-9		0.028	[0.018-0.038] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1226	chr12	84061430	84061431	rs1511589	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	12q21.31	TMTC2	rs1511589-A	0.46	5E-6		0.012	[0.0061-0.0179] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1226	chr12	84131035	84131036	rs7972528	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	12q21.31	TMTC2	rs7972528-T	0.47	4E-8		0.014	[0.0081-0.0199] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1226	chr12	84131035	84131036	rs7972528	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	12q21.31	TMTC2	rs7972528-T	0.47	3E-9	(EA)	0.016	[0.010-0.022] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1227	chr12	84196528	84196529	rs11116045	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q21.31	RPL6P25	rs11116045-G	0.269	2E-7	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1230	chr12	84564067	84564068	rs1545843	21521612	Kohli MA	2011-04-28	Neuron	The neuronal transporter gene SLC6A15 confers risk to major depression.	Major depressive disorder	353 European ancestry cases, 366 European ancestry controls	991 African Americans, 4,308 European ancestry cases, 9,661 European ancestry controls	12q21.31	SLC6A15	rs1545843-A	NR	1E-9		1.398	[1.254-1.557]	Illumina [365676]	N
1234	chr12	85187510	85187511	rs4761097	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	12q21.31	SLC6A15	rs4761097-G	0.449	2E-6	(Alcohol dependence)			Illumina [527829]	N
1243	chr12	86259457	86259458	rs7132746	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	12q21.31	intergenic	rs7132746-C	0.8751	9E-6	(Case/control)	0.3439	[0.19-0.5] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1243	chr12	86259457	86259458	rs7132746	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	12q21.31	intergenic	rs7132746-C	0.8751	2E-6	(Ordinal II)	0.3623	[0.21-0.51] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1249	chr12	87145222	87145223	rs2217235	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12q21.32	NR	rs2217235-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
1250	chr12	87252359	87252360	rs75750649	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12q21.32	NR	rs75750649-?	NR	3E-8	(Japanese)	0.8691	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1253	chr12	87659988	87659989	rs11104379	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q21.32	NR	rs11104379-G	NR	5E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1259	chr12	88354522	88354523	rs11104688	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	12q21.32	NR	rs11104688-T	0.8898	1E-6	(Trans/cis-18:2, EA)	0.0089	[0.0054-0.0124] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1261	chr12	88648079	88648080	rs112511621	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	12q21.32	C12orf50, C12orf29, CEP290, TMTC3	rs112511621-T	0.1762	6E-6		2.4087	[2.03-2.79]	Illumina [8809853] (imputed)	N
1261	chr12	88695011	88695012	rs11104803	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	12q21.32	NR	rs11104803-C	0.9127	3E-6	(Trans/cis-18:2, EA)	0.0067	[0.004-0.0094] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1262	chr12	88787662	88787663	rs11104850	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	12q21.32	NR	rs11104850-A	0.1078	4E-7	(Trans/cis-18:2, EA)	0.0078	[0.0049-0.0107] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1262	chr12	88829293	88829294	rs11104870	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	12q21.32	KITLG	rs11104870-C	0.3	6E-11	(EA, RBCC	0.013	[0.0091-0.0169] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1262	chr12	88837243	88837244	rs11104877	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	12q21.32	NR	rs11104877-T	0.8926	4E-7	(Trans/cis-18:2, EA)	0.0079	[0.0048-0.011] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1263	chr12	88890670	88890671	rs995030	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	12q21.32	KITLG	rs995030-G	0.8	2E-50		2.26	[1.95-2.61]	Illumina [307291]	N
1263	chr12	88890670	88890671	rs995030	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	12q21.32	KITLG	rs995030-A	NR	3E-13		2.3256	[1.85-2.94]	Illumina [NR]	N
1263	chr12	88890670	88890671	rs995030	19483681	Rapley EA	2009-05-31	Nat Genet	A genome-wide association study of testicular germ cell tumor.	Testicular germ cell tumor	730 cases, 1,435 controls	571 cases, 1,806 controls	12q21.32	KITLG	rs995030-G	0.80	1E-31		2.55	[2.05-3.19]	Illumina [307666]	N
1263	chr12	88890670	88890671	rs995030	19483681	Rapley EA	2009-05-31	Nat Genet	A genome-wide association study of testicular germ cell tumor.	Testicular germ cell tumor	730 cases, 1,435 controls	571 cases, 1,806 controls	12q21.32	KITLG	rs1508595-G	0.83	3E-30		2.69	[2.10-3.44]	Illumina [307666]	N
1263	chr12	88953560	88953561	rs3782181	20543847	Turnbull C	2010-06-13	Nat Genet	Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.	Testicular germ cell cancer	979 European ancestry cases, 4,947 European ancestry controls	664 European ancestry cases, 3,456 European ancestry controls	12q21.32	KITLG	rs3782181-?	0.78	2E-26		2.22	[1.89-2.56]	Illumina [298782]	N
1263	chr12	88953958	88953959	rs4474514	19483682	Kanetsky PA	2009-05-31	Nat Genet	Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.	Testicular cancer	277 European ancestry cases, 919 European ancestry controls	371 European ancestry  cases with their 408 parents, 860 European ancestry controls	12q21.32	KITLG	rs4474514-A	NR	6E-15		3.07	[2.29-4.13]	Affymetrix [611254]	N
1266	chr12	89328334	89328335	rs12821256	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Light vs. dark hair color	3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals	NA	12q21.33	KITLG	rs12821256-?	0.128	1E-10		1.4829	[1.36-1.60]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1266	chr12	89328334	89328335	rs12821256	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Brown vs. non-brown hair color	3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals	NA	12q21.33	KITLG	rs12821256-?	0.128	1E-9		1.4366	[1.32-1.55]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1266	chr12	89328334	89328335	rs12821256	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Blond vs non-blond hair color	2,888 European ancestry blond hair individuals, 4,203 European ancestry non-blond hair individuals	NA	12q21.33	KITLG	rs12821256-?	0.872	1E-10		1.4892032	[1.37-1.61]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1266	chr12	89328334	89328335	rs12821256	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Hair color	7,070 European ancestry individuals	4,155 European ancestry individuals	12q21.33	KITLG	rs12821256-C	NR	7E-19		0.18	[0.14-0.22] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
1266	chr12	89328334	89328335	rs12821256	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Blond vs. brown hair color	2,986 European ancestry individuals	3,932 European ancestry individuals	12q21.33	KITLG	rs12821256-C	0.14	4E-30		2.32	[1.86-2.92]	Illumina [317511]	N
1270	chr12	89840864	89840865	rs10777165	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q21.33	NR	rs10777165-C	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1271	chr12	89941548	89941549	rs4842666	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	12q21.33	POC1B, ATP2B1	rs4842666-T		4E-8	(EA, MAP, Age 40-49)	0.71	[0.46-0.96] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1271	chr12	89941548	89941549	rs4842666	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	12q21.33	POC1B, ATP2B1	rs4842666-T		2E-7	(EA, SBP, Age 40-49)	0.91	[0.58-1.24] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1271	chr12	90008958	90008959	rs2681472	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Hypertension	29,136 European ancestry individuals	34,433 European ancestry individuals	12q21.33	ATP2B1	rs2681472-A	0.83	2E-11		0.15	[0.11-0.19] log odds increase	Affymetrix, Illumina [2533153] (imputed)	N
1271	chr12	90008958	90008959	rs2681472	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Diastolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	12q21.33	ATP2B1	rs2681472-A	0.83	1E-9		0.5	[0.34-0.66] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
1271	chr12	90013088	90013089	rs2681492	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Systolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	12q21.33	ATP2B1	rs2681492-T	0.80	4E-11		0.85	[0.60-1.10] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	12q21.33	ATP2B1	rs17249754-G	0.64	4E-12		1.03	[0.74-1.32] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	12q21.33	ATP2B1	rs17249754-G	0.64	2E-8				Affymetrix, Illumina [2485448] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	12q21.33	ATP2B1	rs17249754-G	0.64	2E-10		0.52	[0.36-0.68] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	24001895	Kelly TN	2013-09-03	Hypertension	Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.	Blood pressure	22,275 East Asian ancestry individuals, 4,325 South East Asian ancestry individuals	28,783 East Asian ancestry individuals	12q21.33	ATP2B1	rs17249754-A	0.35	7E-15	(MAP)	0.8	[0.6-1] mm of mercury decrease	Affymetrix, Illumina [~ 2400000] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	12q21.33	ATP2B1	rs17249754-G	0.89	6E-10	(Pulse Pressure)	0.392	[0.27-0.52] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	12q21.33	ATP2B1	rs17249754-G	0.89	1E-17	(Mean Arterial Pressure)	0.557	[0.43-0.69] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	12q21.33	ATP2B1	rs17249754-G	0.64	8E-20	(Systolic)	1.17	[0.92-1.42] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	12q21.33	ATP2B1	rs17249754-G	0.64	2E-13	(Diastolic)	0.58	[0.42-0.74] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Biomedical quantitative traits	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	12q21.33	ATP2B1	rs17249754-A	0.37	3E-6	(DBP)	0.63	[0.37-0.89] mm Hg decrease	Affymetrix [2156535] (imputed)	N
1272	chr12	90060585	90060586	rs17249754	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Biomedical quantitative traits	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	12q21.33	ATP2B1	rs17249754-A	0.37	1E-7	(SBP)	1.06	[0.67-1.45] mm Hg decrease	Affymetrix [2156535] (imputed)	N
1272	chr12	90081187	90081188	rs7136259	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	12q21.33	ATP2B1	rs7136259-T	0.39	6E-10		1.11	[1.08-1.15]	Affymetrix [~ 2200000] (imputed)	N
1273	chr12	90305778	90305779	rs7965584	20700443	Meyer TE	2010-08-05	PLoS Genet	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	Magnesium levels	15,366 European ancestry individuals	8,463 European ancestry individuals	12q21.33	ATP2B1	rs7965584-G	0.29	1E-16		0.07	[0.005-0.009] mmol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1274	chr12	90328832	90328833	rs11105468	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-unrelated)	1,070 European ancestry cases, 4,118 European ancestry controls	Up to 1,034 European ancestry cases, Up to 1,645 European ancestry controls	12q21.33	intergenic	rs11105468-A	0.292	2E-7		1.23	[1.14-1.33]	Illumina [8129384] (imputed)	N
1274	chr12	90328832	90328833	rs11105468	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	12q21.33	intergenic	rs11105468-A	0.292	7E-8		1.28	[1.17-1.40]	Illumina [8129524] (imputed)	N
1274	chr12	90328832	90328833	rs11105468	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures	929 European ancestry MMR vaccine-related febrile seizures cases, 1,070 European ancestry MMR vaccine-unrelated febrile seizures cases, 4,118 European ancestry controls	Up to 408 European ancestry MMR vaccine-related febrile seizures cases, Up to 1,034 European ancestry MMR vaccine-unrelated febrile seizures cases, Up to 1,645 European ancestry controls	12q21.33	intergenic	rs11105468-A	0.292	3E-11	(Overall)	1.25	[1.17-1.33]	Illumina [up to 8129553] (imputed)	N
1275	chr12	90443481	90443482	rs10858945	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	12q21.33	LOC643153	rs10858945-A	NR	6E-6		0.171	[0.087-0.255] unit increase	Illumina [~ 2740000] (imputed)	N
1275	chr12	90444041	90444042	rs10858946	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (cup-to-disc ratio)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	12q21.33	LOC643153	rs10858945-A	NR	6E-6		0.179	[0.093-0.265] unit increase	Illumina [~ 2740000] (imputed)	N
1276	chr12	90609016	90609017	rs10745527	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	12q21.33	dessert	rs10745527-G	0.28	5E-6	(vWF levels)	0.16	[0.10-0.22] IU/dL increase	Illumina [442728]	N
1276	chr12	90633506	90633507	rs2579103	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q21.33	LOC338758	rs2579103-C	0.26	4E-7	(EA)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1276	chr12	90633506	90633507	rs2579103	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q21.33	LOC338758	rs2579103-C	0.26	3E-7		0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1276	chr12	90633506	90633507	rs2579103	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q21.33	LOC338758	rs2579103-C	0.259	5E-6	(EA, women)	0.024	[0.014-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1277	chr12	90776890	90776891	rs1368013	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	12q21.33	NR	rs1368013-?		9E-6		0.08	unit decrease	Illumina [1211988] (imputed)	N
1277	chr12	90788140	90788141	rs1368011	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	12q21.33	NR	rs1368011-?		9E-6		0.08	unit decrease	Illumina [1211988] (imputed)	N
1279	chr12	91024915	91024916	rs763564	25387707	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of antisaccade eye tracking error rate: A genome-wide association study.	Anti-saccade response	4,469 European ancestry twins and their parents	NA	12q21.33	intergenic	rs763564-?	NR	9E-6		0.031	[0.017-0.045] unit increase	Illumina [527829]	N
1279	chr12	91077507	91077508	rs1847461	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	12q21.33	intergenic	rs1847461-?	0.94	8E-6	(CIGSTAT)	1.8	[NR]	Illumina [~ 518000]	N
1282	chr12	91473797	91473798	rs10777288	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	12q21.33	KERA, LUM	rs10777288-A	NR	5E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1282	chr12	91474421	91474422	rs991427	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	12q21.33	KERA, LUM	rs991427-T	0.14	2E-7	(Oz alcohol/week)	0.412	[0.14-0.68] unit increase	Affymetrix [2500000] (imputed)	N
1282	chr12	91477113	91477114	rs4494364	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	12q21.33	KERA, LUM	rs4494364-A	0.14	2E-7	(drinks/week)	0.142	[0.058-0.226] unit increase	Affymetrix [2500000] (imputed)	N
1286	chr12	91896411	91896412	rs11106179	25226531	St Pourcain B	2014-09-16	Nat Commun	Common variation near ROBO2 is associated with expressive vocabulary in infancy.	Expressive vocabulary in infants	6,851 European ancestry 15-18-month-old children, 6,299 European ancestry 24-30-month-old children	2,038 European ancestry 15-18-month-old children, 4,520 European ancestry 24-30-month-old children	12q21.33	NR	rs11106179-A	0.2	3E-6	(15-18 months)	0.087	[0.05-0.124] unit decrease	Illumina [2449665] (imputed)	N
1286	chr12	91980373	91980374	rs10777317	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	12q21.33	DCN	rs10777317-?	0.60	5E-6	(Dominant)	1.12	[1.07-1.18]	Affymetrix [319222]	N
1288	chr12	92164301	92164302	rs10777332	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	12q21.33	intergenic	rs10777332-A	0.11	5E-6	(total cholesterol)	0.24	[0.14-0.34] mmol/L decrease	Illumina [316730]	N
1288	chr12	92246785	92246786	rs4240748	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q21.33	NR	rs4240748-G	NR	2E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1288	chr12	92246785	92246786	rs4240748	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	12q21.33	C12orf79	rs4240748-G	0.634	5E-8		1.0604454	[1.04-1.08]	Affymetrix, Illumina [9005918] (imputed)	N
1289	chr12	92305269	92305270	rs17019682	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	12q21.33	BTG1	rs17019682-?	0.17	2E-6	(AA)	1.47	[0.98-2.22]	Affymetrix, Illumina [2478304] (imputed)	N
1289	chr12	92375594	92375595	rs12146838	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12q21.33	NR	rs12146838-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1290	chr12	92408284	92408285	rs10777373	25325441	Baik I	2015-07-01	Sleep	Associations of Sleep Apnea, NRG1 Polymorphisms, Alcohol Consumption, and Cerebral White Matter Hyperintensities: Analysis with Genome-Wide Association Data.	Obstructive sleep apnea	235 Korean ancestry cases, 235 Korean ancestry controls	NA	12q21.33	C12orf79	rs10777373-?		5E-6	(dominant model)	2.3809524	[1.64-3.45]	Affymetrix [319517] (imputed)	N
1292	chr12	92718557	92718558	rs454217	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking quantity	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	12q22	NR	rs454217-?		2E-6				Illumina [1211988] (imputed)	N
1293	chr12	92890519	92890520	rs10219495	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	12q22	PLEKHG7	rs10219495-?	0.10	5E-6	(Additive)	1.14	[1.08-1.21]	Affymetrix [319222]	N
1294	chr12	92987207	92987208	rs11829373	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	12q22	C12orf74	rs11829373-C	0.1	7E-6	(Age 20-60 years)	0.08	[0.045-0.115] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1295	chr12	93164935	93164936	rs10507017	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	12q22	NR	rs10507017-?	NR	3E-6		6.212	[3.72-8.7] unit decrease	Illumina [498648]	N
1295	chr12	93164935	93164936	rs10507017	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	12q22	NR	rs10507017-?	NR	2E-6		17.42	[10.51-24.33] unit decrease	Illumina [498648]	N
1298	chr12	93550300	93550301	rs1836127	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	12q22	intergenic	rs1836127-A	0.42	3E-6	(NAS)	0.76	[NR] unit increase	Illumina [324623]	N
1299	chr12	93687083	93687084	rs4761659	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	12q22	LOC100287580	rs4761659-?		3E-7				Illumina [859311]	N
1301	chr12	93948456	93948457	rs10859525	25246029	DiStefano JK	2014-09-23	Acta Diabetol	Genome-wide analysis of hepatic lipid content in extreme obesity.	Hepatic lipid content in extreme obesity	1,868 European ancestry cases	NA	12q22	SOCS2	rs10859525-?	NR	4E-7	(Hepatic lipid content grade 1 versus 0)			Illumina [605718]	N
1301	chr12	93976953	93976954	rs3825199	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12q22	SOCS2	rs3825199-A	0.773	4E-49		0.051	[0.043-0.059] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1301	chr12	93976953	93976954	rs3825199	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	12q22	MRPL42, CRADD, UBE2N, SOCS2	rs3825199-C	0.24	2E-7		6.2	[3.85-8.55] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1301	chr12	93978503	93978504	rs11107116	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	12q22	SOCS2	rs11107116-T	0.31	6E-12		0.041	[0.029-0.053] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1301	chr12	93978503	93978504	rs11107116	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12q22	SOCS2	rs11107116-T	0.22	1E-34		0.052	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1301	chr12	93978503	93978504	rs11107116	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	12q22	SOCS2	rs11107116-G	0.77	6E-10		0.04	[0.01-0.07] s.d. decrease (males)	Affymetrix [402951]	N
1302	chr12	93980087	93980088	rs10492321	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	12q22	SOCS2	rs10492321-A	0.21	7E-11		1.26	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1302	chr12	93983553	93983554	rs7953508	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	12q22	SOCS2	rs7953508-C	0.72	4E-6	(Pubertal growth)	0.07	[0.041-0.099] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1303	chr12	94120338	94120339	rs10859563	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12q22	SOCS2	rs10859563-?	NR	3E-12	(Conditioned on rs11107116)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1303	chr12	94126924	94126925	rs10859567	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12q22	CRADD	rs10859567-T	0.563	5E-33		0.035	[0.029-0.041] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1303	chr12	94235164	94235165	rs61144803	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		12q22	CRADD	rs61144803-?	0.04	5E-8		0.16	unit decrease	Illumina [NR] (imputed)	N
1306	chr12	94528824	94528825	rs3847794	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	12q22	NR	rs3847794-G	0.357	7E-6	(Nicotine use)			Illumina [527829]	N
1306	chr12	94532764	94532765	rs11613298	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	12q22		rs11613298-?,rs2230754-?	NR	5E-6	(Haplotype-?????)			Illumina [1006480]	N
1306	chr12	94543505	94543506	rs2230754	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	12q22		rs11613298-?,rs2230754-?	NR	5E-6	(Haplotype-?????)			Illumina [1006480]	N
1307	chr12	94683203	94683204	rs4761470	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	12q22	NR	rs4761470-?	0.177	6E-7		1.375	[1.214-1.556] unit increase	Illumina [563945]	N
1308	chr12	94865476	94865477	rs1520724	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q22	CCDC41	rs1520724-G	0.415	9E-6	(TNF-a )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1310	chr12	95095837	95095838	rs7968270	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	12q22	intergenic	rs7968270-?	NR	9E-6	(AUC)			NR [2092490]	N
1311	chr12	95161352	95161353	rs142494129	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	12q22	intergenic	rs142494129-T		5E-6		1015.12	[579.22-1451.02] unit increase	Affymetrix, Illumina [at least 646791] (imputed)	N
1311	chr12	95249763	95249764	rs61935443	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q22	NR	rs61935443-C	NR	7E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1312	chr12	95324388	95324389	rs249153	24755620	Perez-Palma E	2014-04-22	PLoS One	Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.	Alzheimer's disease	2,540 European ancestry cases, 2,029 European ancestry controls	NA	12q22	intergenic	rs249153-C		4E-7		1.41	[NR]	Affymetrix, Illumina [1216213] (imputed)	N
1313	chr12	95490247	95490248	rs12310399	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)	150 Japanese ancestry cases, 166 Japanese ancestry controls	NA	12q22	FGD6	rs12310399-A	0.567	2E-7	(Recessive model)	1.852	[1.329-2.58]	Illumina [733202]	N
1314	chr12	95604289	95604290	rs10507047	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	12q22	FGD6	rs10507047-?	NR	3E-8		1.15	[NR]	Illumina [4471719] (imputed)	N
1315	chr12	95696419	95696420	rs3596	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	12q22	VEZT	rs3596-G	0.472	2E-6		1.17	[NR]	Illumina [580699]	N
1315	chr12	95711875	95711876	rs10859871	23104006	Nyholt DR	2012-10-28	Nat Genet	Genome-wide association meta-analysis identifies new endometriosis risk loci.	Endometriosis	3,181 European ancestry cases, 8,075 European ancestry controls, 1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls	1,044 Japanese ancestry, 4,017 Japanese ancestry controls	12q22	VEZT	rs10859871-C	0.295	5E-13		1.2	[1.14-1.26]	Illumina [407632]	N
1317	chr12	95959787	95959788	rs7136572	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	12q22	USP44	rs7136572-G	0.04	3E-7	(Bupropion, Sexual side effects)			Affymetrix [421789]	N
1317	chr12	96027758	96027759	rs17356907	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	12q22	NTN4	rs17356907-A	0.702	9E-6		1.09	[1.04-1.12]	Illumina [NR]	N
1317	chr12	96027758	96027759	rs17356907	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	12q22	NTN4	rs17356907-A	0.7	2E-22		1.1	[1.08-1.12]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1317	chr12	96027758	96027759	rs17356907	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	12q22	NEDD1, MIR135A2	rs17356907-G	0.296	1E-6		0.081	[0.048-0.114] cup size increase	Illumina [7422970] (imputed)	N
1317	chr12	96057183	96057184	rs2367563	23921680	Kim DS	2013-07-31	Int Arch Allergy Immunol	A genome-wide association study in Koreans identifies susceptibility loci for allergic nickel dermatitis.	Allergic dermatitis (nickel)	up to 24 Korean ancestry cases, 52 Korean ancestry controls	NA	12q22	NTN4	rs2367563-A	NR	4E-6		5.92	[NR]	Affymetrix [NR]	N
1319	chr12	96261567	96261568	rs6538678	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	12q23.1	CCDC38, FLJ40089	rs6538678-A		2E-6	(Additive)	1.57	[1.30-1.88]	Affymetrix, Illumina [1621689] (imputed)	N
1319	chr12	96271427	96271428	rs1036429	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	12q23.1	CCDC38	rs1036429-?	NR	1E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1319	chr12	96271427	96271428	rs1036429	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	12q23.1	CCDC38	rs1036429-T	0.20	2E-11	(FEV1/FVC)	0.038	[0.026-0.050] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1321	chr12	96479266	96479267	rs2660869	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Height	1,792 Filipino ancestry females	NA	12q23.1	LTA4H	rs2660869-C	0.02	3E-6		4.39	[2.55-6.23] cm increase	Affymetrix [2073674] (imputed)	N
1322	chr12	96634204	96634205	rs11835157	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	12q23.1	ELK3	rs11835157-?		6E-6		0.324	[NR] unit increase	Illumina [430487]	N
1323	chr12	96807916	96807917	rs11108495	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Weight	1,780 Filipino ancestry females	NA	12q23.1	C12orf55	rs11108495-T	0.45	4E-6		1.55	[0.89-2.21] kg increase	Affymetrix [2073674] (imputed)	N
1323	chr12	96858361	96858362	rs12423247	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	12q23.1	CDK17	rs12423247-?	NR	3E-8	(levels)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
1328	chr12	97434219	97434220	rs6538761	24189344	Xia K	2013-11-05	Mol Psychiatry	Common genetic variants on 1p13.2 associate with risk of autism.	Autism	275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls	1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios	12q23.1	NEDD1	rs6538761-A	NR	2E-6		1.24	[NR]	Illumina [702234] (imputed)	N
1329	chr12	97528139	97528140	rs7953959	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q23.1	NR	rs7953959-C	0.49043844534413	8E-6	(IGP2)	0.1389	[0.078-0.2] unit increase	Illumina [~ 2500000] (imputed)	N
1329	chr12	97596102	97596103	rs139427007	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	12q23.1	XR_246024.1	rs139427007-?	0.01	4E-7		11.0	[NR]	Affymetrix [4893794] (imputed)	N
1329	chr12	97641185	97641186	rs7134221	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	12q23.1	intergenic	rs7134221-C	0.49	5E-6		0.038	unit increase	Illumina [~ 6300000] (imputed)	N
1330	chr12	97689767	97689768	rs10777845	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	12q23.1	intergenic	rs10777845-?	0.66	5E-6	(Dominant)	1.12	[1.07-1.17]	Affymetrix [319222]	N
1331	chr12	97876905	97876906	rs75718479	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	12q23.1	RMST	rs75718479-C	0.877	1E-6		1.22	[NR]	Illumina [4550396] (imputed)	N
1331	chr12	97901269	97901270	rs11109072	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	12q23.1	RMST	rs11109072-A	0.03	4E-9		1.67	[1.41-1.99]	Affymetrix [~ 2000000] (imputed)	N
1332	chr12	98024654	98024655	rs2122661	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (total eye scanning length)	128 Han Chinese ancestry cases	NA	12q23.1	NR	rs2122661-?		3E-6		97.35	[55.29-139.41] unit increase	Illumina [498648]	N
1332	chr12	98027690	98027691	rs11109142	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	12q23.1	AF429306	rs11109142-G	0.03	4E-6	(Age 8)	0.31	[0.17-0.45] unit increase	Illumina [2293137] (imputed)	N
1333	chr12	98061145	98061146	rs248812	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	12q23.1	RNU6-36, MIR135A2	rs248812-A	0.83	9E-7		0.26	[0.16-0.36] unit decrease	Affymetrix, Illumina [up to 2600000] (imputed)	N
1341	chr12	99190371	99190372	rs2036225	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	12q23.1	ANKS1B	rs2036225-T	0.41	8E-6	(Meta)			Illumina [254145]	N
1342	chr12	99290312	99290313	rs201412	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	12q23.1	ANKS1B	rs201412-?	NR	1E-7	(SCR Amplitude)	0.045	[0.027-0.063] unit increase	Illumina [527829]	N
1342	chr12	99334528	99334529	rs483610	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q23.1	ANKS1B	rs483610-G	0.387	7E-6	(Hip circumference change )	0.03	[NR] cm/y increase	Illumina [899892]	N
1344	chr12	99493734	99493735	rs10745841	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q23.1	NR	rs10745841-C	NR	1E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1344	chr12	99498186	99498187	rs10860392	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	12q23.1	ANKS1B	rs10860392-T		2E-6	(Modelling analysis)	1.06	[1.04-1.09]	NR [1252901] (imputed)	N
1346	chr12	99816841	99816842	rs7968606	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	12q23.1	ANKS1B	rs7968606-?	NR	3E-7	(olanzapine)	10.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
1347	chr12	99904539	99904540	rs1961649	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/5-HIAA ratio)	up to 398 European ancestry individuals	NA	12q23.1	ANKS1B	rs1961649-T		3E-6		0.2234	unit increase	Illumina [5767231] (imputed)	N
1347	chr12	99961348	99961349	rs2373011	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Waist circumference	1,779 Filipino ancestry females	NA	12q23.1	ANKS1B	rs2373011-C	0.42	2E-6		1.71	[1.00-2.42] cm increase	Affymetrix [2073674] (imputed)	N
1347	chr12	99961348	99961349	rs2373011	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Body mass index	1,780 Filipino ancestry females	NA	12q23.1	ANKS1B	rs2373011-C	0.42	9E-6		0.03	[0.02-0.04] unit increase	Affymetrix [2073674] (imputed)	N
1349	chr12	100266112	100266113	rs11110077	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	12q23.1	ANKS1B	rs11110077-?	0.11	4E-7	(quetiapine)			Affymetrix [492900]	N
1354	chr12	100820084	100820085	rs12296850	23341777	Dong J	2013-01-17	PLoS Genet	Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese.	Squamous cell carcinoma	833 Han Chinese ancestry cases, 3,094 Han Chinese ancestry controls	2,223 Han Chinese ancestry cases, 6,409 Han Chinese ancestry controls	12q23.1	SLC17A8, NR1H4, SCYL2, GAS2L3	rs12296850-A	0.744	1E-10		1.28	[1.19-1.39]	Affymetrix [570009]	N
1357	chr12	101221238	101221239	rs1399439	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		12q23.1	ANO4	rs1399439-?	0.04	4E-7		0.2	unit decrease	Illumina [NR] (imputed)	N
1358	chr12	101383957	101383958	rs66861122	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	12q23.1	ARL1, SPIC, ANO4, ANKS1B	rs66861122-G	NR	5E-6	(ParVAS)	1.82	[1.06-2.58] unit increase	Illumina [586062]	N
1360	chr12	101687042	101687043	rs2290720	20197096	Stein JL	2010-03-01	Neuroimage	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.	Brain structure (hippocampal volume)	162 European ancestry Alzheimer's disease cases, 343 European ancestry amnestic mild cognitive impairment cases, 193 European ancestry healthy elderly controls	NA	12q23.2	UTP20	rs2290720-G	0.43	3E-6		148.1	[NR] unit decrease	Illumina [546314]	N
1361	chr12	101742179	101742180	rs57083693	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	12q23.2	UTP20	rs57083693-C	0.22	4E-8		1.35	[1.23-1.47]	Illumina [4058415] (imputed)	N
1361	chr12	101753953	101753954	rs10507130	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Coronary artery calcification	Up to 678 individuals	NA	12q23.2	DRIM	rs10507130-?	NR	7E-6				Affymetrix [70897]	N
1363	chr12	102020445	102020446	rs10860757	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second)	1,015 European ancestry individuals, 541 African American individuals	NA	12q23.2	MYBPC1	rs10860757-?		7E-7	(EA)			Illumina [up to 524000]	N
1365	chr12	102321934	102321935	rs4622329	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	12q23.2	DRAM1	rs4622329-A	0.56	9E-12		1.1905		Illumina [2100739] (imputed)	N
1366	chr12	102373787	102373788	rs7971536	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12q23.2	CCDC53/GNPTAB	rs7971536-A	0.46	8E-14		0.028	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1367	chr12	102506043	102506044	rs2271266	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	12q23.2	NUP37	rs2271266-T	0.67	4E-46		0.077	[0.063-0.091] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1367	chr12	102513530	102513531	rs2292303	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	12q23.2	NUP37, C12orf48, PMCH	rs2292303-C	0.30	8E-6		0.51	[NR] cm decrease	Affymetrix [334546]	N
1368	chr12	102630678	102630679	rs7313075	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	12q23.2	IGF1	rs7313075-A	0.32	4E-47		0.074	[0.062-0.086] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1368	chr12	102726337	102726338	rs1520223	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	12q23.2	IGF1	rs1520223-C	0.26	9E-7		0.56	[NR] cm decrease	Affymetrix [334546]	N
1369	chr12	102799597	102799598	rs5742692	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	12q23.2	IGF1	rs5742692-G	0.27	4E-8		0.07	[0.05-0.09] cm decrease	Illumina [420885]	N
1369	chr12	102875568	102875569	rs35767	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting insulin-related traits	up to 38,238 European ancestry individuals	up to 62,264 European ancestry individuals	12q23.2	IGF1	rs35767-G	0.85	3E-8	(FI)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1369	chr12	102875568	102875569	rs35767	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting insulin-related traits	up to 38,238 European ancestry individuals	up to 62,264 European ancestry individuals	12q23.2	IGF1	rs35767-G	0.85	2E-9	(HOMA-IR)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1369	chr12	102875568	102875569	rs35767	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	12q23.2	IGF1	rs35767-G	0.85	3E-8	(FI)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1369	chr12	102875568	102875569	rs35767	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	12q23.2	IGF1	rs35767-G	0.85	2E-9	(HOMA-IR)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1370	chr12	102912557	102912558	rs35747	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	12q23.2	IGF1	rs35747-?	NR	1E-9				Affymetrix, Illumina [~ 2400000] (imputed)	N
1370	chr12	102965328	102965329	rs7964748	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	12q23.2	IGF1	rs7964748-G	0.28	3E-6	(AA-glucose response)	4.06	[2.37-5.75] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
1370	chr12	103011893	103011894	rs703556	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	12q23.2	IGF1	rs703556-A	0.98	4E-10		0.41	[0.25-0.57] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1371	chr12	103125689	103125690	rs2172873	21460842	Cha PC	2011-04-03	Nat Genet	A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.	Uterine fibroids	1,607 Japanese ancestry cases, 1,428 Japanese ancestry controls	3,439 Japanese ancestry cases, 3,244 Japanese ancestry controls	12q23.2	NR	rs2172873-A	0.22	2E-6		1.18	[1.04-1.34]	Illumina [457044]	N
1372	chr12	103251674	103251675	rs12297049	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Amino acid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	12q23.2	PAH	rs12297049-T	0.5875	1E-10	(Phenylalanine)	0.0202	[0.014-0.026] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
1372	chr12	103257875	103257876	rs1498694	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12q23.2	PAH	rs1498694-A	0.4	7E-11	(phenylalanine)	0.008	[0.006-0.01] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1373	chr12	103361111	103361112	rs36104021	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q23.2	NR	rs36104021-C	NR	6E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
1374	chr12	103483093	103483094	rs10745954	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	12q23.2	ASCL1	rs10745954-A	NR	2E-11		0.039	[0.03-0.05] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1374	chr12	103495150	103495151	rs10778213	18439548	Ridker PM	2008-04-24	Am J Hum Genet	Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.	C-reactive protein	6,345 European ancestry female individuals	NA	12q23.2	Unknown	rs10778213-G	NR	1E-10		0.12	[NR] mg/dl decrease	Illumina [336108]	N
1375	chr12	103596454	103596455	rs10860964	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q23.2	NR	rs10860964-T	NR	9E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
1375	chr12	103596454	103596455	rs10860964	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	12q23.2	C12orf42	rs10860964-T	0.646	5E-8		1.06	[1.038-1.083]	Affymetrix, Illumina [9005918] (imputed)	N
1375	chr12	103656232	103656233	rs1464321	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q23.2	C12orf42	rs1464321-A	0.739	6E-6	(EA, women)	0.024	[0.014-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1377	chr12	103912505	103912506	rs10861032	21878436	Sampietro ML	2011-08-30	Hum Mol Genet	A genome-wide association study identifies a region at chromosome 12 as a potential susceptibility locus for restenosis after percutaneous coronary intervention.	Coronary restenosis	295 European ancestry cases, 571 European ancestry controls	455 European ancestry cases, 2,880 European ancestry controls	12q23.3	STAB2, C12orf42, NT5DC3	rs10861032-C	NR	1E-7				Illumina [556099]	N
1378	chr12	104034318	104034319	rs1650123	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q23.3	NR	rs1650123-C	0.577816124610592	6E-6	(IGP8)	0.1516	[0.086-0.218] unit decrease	Illumina [~ 2500000] (imputed)	N
1378	chr12	104034318	104034319	rs1650123	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q23.3	NR	rs1650123-C	0.577816124610592	1E-6	(IGP48)	0.1628	[0.097-0.229] unit decrease	Illumina [~ 2500000] (imputed)	N
1379	chr12	104139033	104139034	rs7306642	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	12q23.3	STAB2	rs7306642-A	0.07	3E-6	(FVIII Activity)	0.3	[0.18-0.42] IU/dL increase	Illumina [442728]	N
1379	chr12	104149873	104149874	rs4981022	20231535	Smith NL	2010-03-15	Circulation	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	vWF levels	17,596 European ancestry individuals	Up to 7,604 European ancestry individuals	12q23.3	STAB2	rs4981022-?	NR	7E-10		3.6	[0.4-6.8] unit decrease	Affymetrix, Illumina [2742821] (imputed)	N
1379	chr12	104192823	104192824	rs4964805	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	12q23.3	NT5DC3	rs4964805-?	NR	5E-6				Affymetrix [504219]	N
1380	chr12	104317995	104317996	rs1165668	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	12q23.3	HSP90B1	rs1165668-?,rs1165669-?	(GC)	3E-9	(Coronary artery disease)			Affymetrix [407576]	N
1380	chr12	104318171	104318172	rs1165669	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Coronary heart disease	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	12q23.3	HSP90B1	rs1165668-?,rs1165669-?	(GC)	3E-9	(Coronary artery disease)			Affymetrix [407576]	N
1381	chr12	104421807	104421808	rs2629751	22841784	Patin E	2012-07-26	Gastroenterology	Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.	Hepatitis C induced liver fibrosis	1,161 European ancestry HCV-infected individuals	1,181 European ancestry HCV-infected individuals	12q23.3	GLT8D2	rs2629751-G	0.31	1E-7	(Binary F0/F4)			Illumina [780650] (imputed)	N
1381	chr12	104445741	104445742	rs1564892	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	12q23.3	GLT8D2	rs1564892-A	0.76	2E-10		0.08	[0.041-0.119] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1383	chr12	104645404	104645405	rs7975161	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	12q23.3	TXNRD1, NFYB	rs7975161-T	0.16	1E-6		0.023	[0.013-0.033] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
1384	chr12	104754499	104754500	rs77724872	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	12q23.3	EID3	rs77724872-?	0.047	7E-7	(S-DCT concentration, adjusted for CYP2C19)			Illumina [7537437] (imputed)	N
1384	chr12	104818191	104818192	rs11112046	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q23.3	CHST11	rs11112046-A	0.179	3E-6	(IGF1 free )	0.02	[NR] ng/mL increase	Illumina [899892]	N
1386	chr12	105017163	105017164	rs12811699	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	12q23.3	CHST11	rs12811699-?	NR	8E-6		1.74	[1.36-2.21]	Illumina [948142]	N
1389	chr12	105452441	105452442	rs10861337	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q23.3	NR	rs10861337-G	0.900366844872369	2E-7	(IGP11)	0.2653	[0.16-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
1389	chr12	105458796	105458797	rs10861342	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q23.3	NR	rs10861342-C	0.099068749529359	2E-6	(IGP51)	0.2456	[0.14-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
1394	chr12	106108718	106108719	rs10219670	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	12q23.3	C12orf75, NUAK1	rs10219670-C	0.42	4E-6	(Cortical Ab)			Illumina [6108668] (imputed)	N
1397	chr12	106459901	106459902	rs6539247	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	12q23.3	NUAK1	rs6539247-T	0.451	6E-7	(IIV)	0.2	[0.12-0.28] unit decrease	Illumina [799713]	N
1397	chr12	106459901	106459902	rs6539247	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	12q23.3	NUAK1	rs6539247-T	0.429	3E-6	(HRTSE)	0.82	[0.49-1.15] unit decrease	Illumina [799713]	N
1399	chr12	106785553	106785554	rs6539267	22889924	Scharf JM	2012-08-14	Mol Psychiatry	Genome-wide association study of Tourette's syndrome.	Tourette syndrome	778 European ancestry cases, 4,414 European ancestry controls, 242 Ashkenazi Jewish cases, 354 Ashkenazi Jewish controls, 265 French Canadian founder cases, 196 French Canadian founder controls	211 Latin American cases, 285 Latin American controls	12q23.3	POLR3B, TCP11L2, FLJ45508	rs6539267-T	0.69	6E-6		1.27	[NR]	Illumina [484295]	N
1400	chr12	106949986	106949987	rs4964469	21084426	Saad M	2010-11-17	Hum Mol Genet	Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.	Parkinson's disease	1,039 European ancestry cases, 1,984 European ancestry controls	3,232 European ancestry cases, 7,064 European ancestry controls	12q23.3	intergenic	rs4964469-A	0.37	2E-7		1.16	[1.09-1.22]	Illumina [492929]	N
1400	chr12	106950694	106950695	rs3891355	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	12q23.3	POLR3B, RFX4	rs3891355-?	NR	3E-6	(Sim)			Affymetrix [70897]	N
1402	chr12	107149421	107149422	rs2067615	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	12q23.3	RFX4	rs2067615-A	0.49	2E-9		0.278	[0.19-0.36] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1403	chr12	107229704	107229705	rs10444533	24133439	Jones RM	2013-10-11	Front Hum Neurosci	Genome-wide association study of autistic-like traits in a general population study of young adults.	Social autistic-like traits	965 European ancestry young adult individuals	NA	12q23.3	RIC8B	rs10444533-C		4E-6		1.458	[0.84-2.07] unit increase	Illumina [2462046] (imputed)	N
1404	chr12	107367224	107367225	rs1053051	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	12q23.3	C12orf23	rs1053051-T	0.52	1E-9	(FNBMD)	0.03	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1406	chr12	107704704	107704705	rs1820460	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	12q23.3	BTBD11	rs1820460-?	0.2788	8E-6	(IED)			Illumina [475971]	N
1413	chr12	108547386	108547387	rs181947843	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	12q23.3	CORO1C, ASCL4, ISCU, LOC728739, FICD, PRDM4, PWP1, CMKLR1, SART3, BTBD11, SELPLG, TMEM119, WSCD2	rs181947843-A	0.0034	5E-6		2.17	[1.32-3.58]	Illumina [7300000] (imputed)	N
1413	chr12	108602969	108602970	rs7313402	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	12q23.3	WSCD2	rs7313402-?	NR	8E-6	(Anxious)	1.13	[NR] unit increase	Affymetrix [703012]	N
1414	chr12	108699031	108699032	rs1878022	21483023	Wu X	2011-04-11	J Natl Cancer Inst	Genome-wide association study of survival in non-small cell lung cancer patients receiving platinum-based chemotherapy.	Response to platinum-based chemotherapy in non-small-cell lung cancer	327 European ancestry individuals	735 European ancestry individuals	12q23.3	CMKLR1	rs1878022-?	NR	5E-7		1.33	[1.19-1.48]	Illumina [307260]	N
1414	chr12	108717928	108717929	rs11113818	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	12q23.3	STAB2, FICD, CHST11, CMKLR1, BTBD11, CORO1C, SSH, C12orf75, POLR3B, RFX4, NUAK1	rs11113818-T	NR	4E-6	(ParVAS)	1.16	[0.67-1.65] unit increase	Illumina [586062]	N
1414	chr12	108742819	108742820	rs17040430	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder	836 European ancestry cases, 2,093 European ancestry controls	NA	12q23.3	CMKLR1	rs17040430-T	NR	9E-7		1.89	[NR]	Affymetrix [745006]	N
1414	chr12	108767332	108767333	rs10861905	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	12q23.3	CMKLR1	rs10861905-?	0.01	8E-7		33.95	[NR]	Affymetrix [512497]	N
1415	chr12	108841862	108841863	rs11113894	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q23.3	FICD	rs11113894-A	0.397	2E-6	(TC )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1415	chr12	108842375	108842376	rs66478310	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	12q23.3	LOC102723562	rs66478310-?		5E-6				Illumina [5970354] (imputed)	N
1415	chr12	108877540	108877541	rs918304	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q23.3	NR	rs918304-C	0.00963820126262628	9E-6	(IGP13)	1.5827	[0.88-2.28] unit decrease	Illumina [~ 2500000] (imputed)	N
1415	chr12	108877540	108877541	rs918304	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q23.3	NR	rs918304-C	0.00963820126262628	8E-6	(IGP53)	1.5994	[0.9-2.3] unit decrease	Illumina [~ 2500000] (imputed)	N
1416	chr12	109025426	109025427	rs8179116	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	12q24.11	SELPLG	rs8179116-A	0.021	3E-6		0.23	[NR] unit increase	Illumina [948658]	N
1418	chr12	109278746	109278747	rs2111902	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (mean eye scanning length)	128 Han Chinese ancestry cases	NA	12q24.11	NR	rs2111902-?		2E-7		4.428	[2.84-6.02] unit increase	Illumina [498648]	N
1423	chr12	109840939	109840940	rs9943753	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	12q24.11	UBE3B, MVK, MMAB, MYO1H, KCTD10	rs9943753-G	0.63	3E-6		0.02	[0.01-0.03] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1423	chr12	109895167	109895168	rs2338104	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	12q24.11	MVK, MMAB	rs2338104-C	0.45	1E-10		0.07	[0.03-0.11] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1423	chr12	109895167	109895168	rs2338104	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	12q24.11	MVK, MMAB	rs2338104-G	0.45	3E-8		0.48	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1423	chr12	109962794	109962795	rs2241208	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	12q24.11	MMAB, MVK	rs2241208-C	0.51	9E-10		0.036	[0.024-0.048] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1424	chr12	110000192	110000193	rs7134594	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	12q24.11	MVK	rs7134594-C	0.48	2E-13		0.035	[NR] unit decrease	NR [NR] (imputed)	N
1424	chr12	110000192	110000193	rs7134594	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	12q24.11	MVK, MMAB	rs7134594-C	0.47	7E-15		0.44	[0.3-0.58] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1424	chr12	110007992	110007993	rs59227481	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	12q24.11	MMAB	rs59227481-G	NR	6E-7	(Fixed effect)	0.08	[0.041-0.119] unit increase	Illumina [4736131] (imputed)	N
1427	chr12	110368200	110368201	rs2292354	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	12q24.11	GIT2	rs2292354-?	0.46	7E-6	(HDL)			Illumina [308011]	N
1427	chr12	110398144	110398145	rs4766646	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	12q24.11	GIT2, TCHP, ANKRD13A	rs4766646-T		4E-7		0.3211	unit increase	Illumina [5767231] (imputed)	N
1427	chr12	110493221	110493222	rs10849689	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q24.11	NR	rs10849689-A	NR	6E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1429	chr12	110704486	110704487	rs11065611	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	12q24.11	ATP2A2	rs11065611-?	0.06	1E-7	(Alpha-1 globulin)			Illumina [496032]	N
1429	chr12	110708745	110708746	rs73206853	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	12q24.11	NR	rs73206853-A	NR	4E-6	(phenotype 2)	1.88	[NR]	Illumina [> 8000000] (imputed)	N
1429	chr12	110723202	110723203	rs3026445	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	12q24.11	ATP2A2	rs3026445-C	0.356	3E-12		0.62	[0.44-0.8] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1429	chr12	110723244	110723245	rs4766428	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q24.11	NR	rs4766428-T	NR	2E-10		1.07	[NR]	Illumina [7158791] (imputed)	N
1429	chr12	110723244	110723245	rs4766428	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	12q24.11	ATP2A2	rs4766428-T	0.474	1E-9		1.068	[1.045-1.091]	Affymetrix, Illumina [9005918] (imputed)	N
1430	chr12	110782026	110782027	rs3026485	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	12q24.11	ATP2A2	rs3026485-?		7E-6	(AIRg)	15.24	[5.32-25.16] unit increase	Illumina [693128]	N
1432	chr12	111062851	111062852	rs1502337	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.11	TCTN1	rs1502337-T	0.366	7E-6		0.014	[0.0078-0.0196] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1432	chr12	111062851	111062852	rs1502337	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.11	TCTN1	rs1502337-T	0.357	6E-6	(EA)	0.014	[0.0081-0.0203] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1433	chr12	111155530	111155531	rs11065706	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	12q24.11	PPP1CC	rs11065706-T	0.756	6E-7				Affymetrix, Illumina [2516789] (imputed)	N
1434	chr12	111333621	111333622	rs10849915	21270382	Baik I	2011-01-26	Am J Clin Nutr	Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.	Alcohol consumption	1,721 Korean ancestry male individuals	1,113 Korean ancestry male individuals	12q24.11	CCDC63	rs10849915-G	0.18	1E-23		0.55	[0.45-0.65] unit decrease	Affymetrix [315914]	N
1434	chr12	111340242	111340243	rs10774610	21372407	Takeuchi F	2011-03-01	Circ J	Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.	Drinking behavior	733 Japanese ancestry cases, 729 Japanese ancestry controls	2,794 Japanese ancestry drinkers, 1,521 Japanese ancestry chance drinkers, 1,351 Japanese ancestry non-drinkers	12q24.11	CCDC63	rs10774610-?	0.78	9E-120		3.33	[3.03-3.70]	Illumina [456827]	N
1434	chr12	111350654	111350655	rs3782889	23364394	Lee JY	2013-01-31	J Hum Genet	A genome-wide association study of a coronary artery disease risk variant.	Coronary heart disease	2,123 Korean ancestry cases, 3,591 Korean ancestry controls	3,052 Japanese ancestry cases, 4,976 Japanese ancestry controls	12q24.11	MYL2	rs3782889-C	0.21	4E-14		1.26	[1.19-1.34]	Affymetrix [521786]	N
1434	chr12	111386126	111386127	rs2188380	25646370	Matsuo H	2015-02-02	Ann Rheum Dis	Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.	Gout	945 Japanese ancestry cases, 1,213 Japanese ancestry controls	1,048 Japanese ancestry cases, 1,334 Japanese ancestry controls	12q24.11	MYL2, CUX2	rs2188380-T	0.78	2E-23		1.75	[1.57-1.96]	Illumina [570442]	N
1435	chr12	111414460	111414461	rs12229654	25705158	Shim U	2014-12-31	Genomics Inform	Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts.	Metabolic syndrome	3,253 Korean ancestry cases, 5,589 Korean ancestry controls	NA	12q24.11	MYL2	rs12229654-?	NR	3E-6				Affymetrix [312121]	N
1435	chr12	111414460	111414461	rs12229654	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	12q24.11	MYL2	rs12229654-T	0.8	5E-9		0.0341	[0.023-0.045] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1435	chr12	111414460	111414461	rs12229654	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	12q24.11	MYL2	rs12229654-G		9E-13	(1-hPG)	0.277	[0.20-0.35] mmol-1 decrease	Affymetrix [357789]	N
1435	chr12	111414460	111414461	rs12229654	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	HDL cholesterol	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	12q24.11	MYL2	rs12229654-G	0.14	3E-23		0.028	[0.023-0.033] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1435	chr12	111414460	111414461	rs12229654	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Gamma glutamyl transpeptidase	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	12q24.11	MYL2	rs12229654-G	0.14	9E-58		0.0119	[0.011-0.013] IU/L increase	Affymetrix [~ 2200000] (imputed)	N
1435	chr12	111414460	111414461	rs12229654	21270382	Baik I	2011-01-26	Am J Clin Nutr	Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.	Alcohol consumption	1,721 Korean ancestry male individuals	1,113 Korean ancestry male individuals	12q24.11	MYL2	rs12229654-G	0.14	4E-35		0.79	[0.67-0.91] unit decrease	Affymetrix [315914]	N
1437	chr12	111679213	111679214	rs886126	23364394	Lee JY	2013-01-31	J Hum Genet	A genome-wide association study of a coronary artery disease risk variant.	Coronary heart disease	2,123 Korean ancestry cases, 3,591 Korean ancestry controls	3,052 Japanese ancestry cases, 4,976 Japanese ancestry controls	12q24.11	CUX2	rs886126-T	0.66	1E-6		1.14	[1.08-1.20]	Affymetrix [521786]	N
1437	chr12	111708457	111708458	rs1265564	22293688	Huang J	2012-02-01	Eur J Hum Genet	1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.	Type 1 diabetes	16,179 European ancestry individuals	NA	12q24.11	CUX2	rs1265564-?	NR	1E-16		1.45	[1.28-1.67]	NR [6233112] (imputed)	N
1438	chr12	111833787	111833788	rs10774624	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	12q24.12	SH2B3, PTPN11	rs10774624-G	0.5	7E-9	(EA)	1.09	[1.06-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q24.12	NR	rs3184504-?	NR	1E-9	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	12q24.12	SH2B3, CUX2, BRAP, ACAD10	rs3184504-C	0.53	2E-8		1.09	[1.06-1.12]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	12q24.12	CUX2, BRAP, ACAD10, SH2B3	rs3184504-C	0.53	2E-8	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12q24.12	SH2B3	rs3184504-T	0.49	6E-18	(kynurenine)	0.015	[0.011-0.019] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	24768677	de Boer YS	2014-04-23	Gastroenterology	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	Autoimmune hepatitis type-1	649 European ancestry cases, 13,436 European ancestry controls	451 European ancestry cases, 4,103 European ancestry controls	12q24.12	SH2B3	rs3184504-?	0.43	8E-8		1.4	[1.20-1.60]	Illumina [254006]	N
1438	chr12	111884607	111884608	rs3184504	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	12q24.12	SH2B3	rs3184504-T	NR	9E-7		1.07	[1.04-1.11]	Illumina [575000] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Platelet count	13,582 European ancestry individuals	NA	12q24.12	SH2B3, ATXN2	rs3184504-C	0.5	5E-11		5.33	[NR] unit decrease	Illumina [476395]	N
1438	chr12	111884607	111884608	rs3184504	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		12q24.12	SH2B3, ATXN2	rs3184504-C	0.49	3E-8		0.02	[0.012-0.028] unit decrease	Affymetrix [2500000] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	12q24.12	SH2B3, ATXN2	rs3184504-T	0.48	4E-19	(EA, Hgb)	0.051	[0.039-0.063] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	12q24.12	SH2B3, ATXN2, LOC100101246, BRAP, NAA25, C12orf51, PTPN11	rs3184504-T	0.502	3E-12		1.2	[1.14-1.27]	Illumina [870065]	N
1438	chr12	111884607	111884608	rs3184504	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	12q24.12	SH2B3	rs3184504-T	NR	1E-26		3.99	[3.26-4.72] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	12q24.12	SH2B3	rs3184504-T	0.47	4E-25		0.448	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	12q24.12	SH2B3	rs3184504-T	NR	2E-38	(T1D)	1.3	[NR]	Affymetrix, Illumina [NR]	N
1438	chr12	111884607	111884608	rs3184504	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	12q24.12	SH2B3	rs3184504-T	0.44	6E-6		1.07	[1.04-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	12q24.12	SH2B3	rs3184504-T	0.51	6E-6		1.08	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	12q24.12	SH2B3	rs3184504-?	NR	3E-27				Affymetrix, Illumina [841622] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Systolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	12q24.12	SH2B3	rs3184504-T	0.48	5E-9		0.58	[0.38-0.78] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Diastolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	12q24.12	SH2B3	rs3184504-T	0.48	3E-14		0.48	[0.36-0.60] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
1438	chr12	111884607	111884608	rs3184504	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	12q24.12	SH2B3	rs3184504-T	0.38	7E-19	(EA)	7.6	[5.9-9.3] % standard unit increase	Illumina [312179]	N
1438	chr12	111887658	111887659	rs739496	25705162	Oh JH	2014-12-31	Genomics Inform	Genome-wide association study identifies candidate Loci associated with platelet count in koreans.	Platelet count	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	12q24.12	SH2B3	rs739496-A	0.11	7E-12		8.25	[5.15-11.35] unit decrease	Affymetrix [2152228] (imputed)	N
1438	chr12	111887658	111887659	rs739496	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Platelet count	14,806 Japanese ancestry individuals	NA	12q24.12	SH2B3	rs739496-A	0.16	5E-19		0.141	[0.11-0.17] unit decrease	Illumina [561583]	N
1438	chr12	111904370	111904371	rs4766578	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	12q24.12	SH2B3	rs4766578-T	0.52	4E-18		1.32	[NR]	Illumina [495821]	N
1438	chr12	111910218	111910219	rs10774625	21060863	Ikram MK	2010-10-28	PLoS Genet	Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.	Retinal vascular caliber	15,358 European ancestry individuals	6,652 European ancestry individuals	12q24.12	SH2B3, ATXN2, PTPN11	rs10774625-A	0.48	2E-13	(Retinal venular caliber)	1.5	[1.11-1.89] um increase	Affymetrix, Illumina [2194468] (imputed)	N
1439	chr12	112007755	112007756	rs653178	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q24.12	SH2B3, ALDH2, ATXN2	rs653178-G	0.4942	1E-8	(EA)	1.0580138	[1.04-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1439	chr12	112007755	112007756	rs653178	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q24.12	SH2B3, ALDH2, ATXN2	rs653178-G	0.4942	7E-8	(EA)	1.0667465	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1439	chr12	112007755	112007756	rs653178	25009551	Kullo IJ	2014-06-25	Front Genet	The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.	Peripheral artery disease	1,641 European ancestry cases, 1,604 European ancestry controls	740 European ancestry cases, 1,501 European ancestry controls	12q24.12	SH2B3, ATXN2	rs653178-C	0.469	6E-7		1.22	[1.13-1.32]	Illumina [537872]	N
1439	chr12	112007755	112007756	rs653178	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	12q24.12	SH2B3, ATXN2	rs653178-C	0.40	1E-9		1.14	[1.08-1.19]	Affymetrix, Illumina [up to 3437411] (imputed)	N
1439	chr12	112007755	112007756	rs653178	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	12q24.12	SH2B3, ATXN2	rs653178-C	0.40	1E-7		0.0147	[0.0059-0.0235] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
1439	chr12	112007755	112007756	rs653178	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	12q24.12	ATXN2, PTPN11	rs653178-T	0.51	7E-12		0.035	[0.025-0.045] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1439	chr12	112007755	112007756	rs653178	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	12q24.12	ATXN2	rs653178-T	0.59	7E-20	(Mean Arterial Pressure)	0.429	[0.34-0.52] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1439	chr12	112007755	112007756	rs653178	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	12q24.12	SH2B3	rs653178-C	NR	3E-19				Illumina [472854]	N
1439	chr12	112007755	112007756	rs653178	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	12q24.12	ATXN2	rs653178-T	0.50	4E-11	(eGFRcys)	0.01	[0.009-0.017] ml/min/1.73 m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1439	chr12	112007755	112007756	rs653178	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	12q24.12	SH2B3	rs653178-G	0.50	7E-21		1.2	[1.15-1.24]	Illumina [292387]	N
1439	chr12	112007755	112007756	rs653178	19430483	Newton-Cheh C	2009-05-10	Nat Genet	Genome-wide association study identifies eight loci associated with blood pressure.	Diastolic blood pressure	34,433 European ancestry individuals	Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals	12q24.12	SH2B3, ATXN2	rs653178-T	0.53	3E-18		0.46	[0.36-0.56] mm Hg decrease	Affymetrix, Illumina [2497993] (imputed)	N
1439	chr12	112007755	112007756	rs653178	18311140	Hunt KA	2008-03-02	Nat Genet	Newly identified genetic risk variants for celiac disease related to the immune response.	Celiac disease	767 European ancestry cases, 1,422 European ancestry controls	1,643 European ancestry cases, 3,406 European ancestry controls	12q24.12	SH2B3, ATXN2	rs653178-G	0.48	8E-8		1.21	[1.13-1.30]	Illumina [310605]	N
1440	chr12	112072423	112072424	rs11065987	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.12	BRAP	rs11065987-A	0.585	1E-6		0.015	[0.0088-0.021] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1440	chr12	112072423	112072424	rs11065987	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.12	BRAP	rs11065987-A	0.581	1E-6	(EA)	0.015	[0.0091-0.0213] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1440	chr12	112072423	112072424	rs11065987	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	12q24.12	SH2B3	rs11065987-?		3E-10				Affymetrix, Illumina [up to 2500000] (imputed)	N
1440	chr12	112072423	112072424	rs11065987	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	12q24.12	SH2B3	rs11065987-?		4E-14				Affymetrix, Illumina [up to 2500000] (imputed)	N
1440	chr12	112072423	112072424	rs11065987	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	12q24.12	BRAP	rs11065987-G	0.41	1E-11		0.027	[NR] unit decrease	NR [NR] (imputed)	N
1440	chr12	112072423	112072424	rs11065987	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	12q24.12	BRAP	rs11065987-G	0.41	2E-16		0.031	[NR] unit decrease	NR [NR] (imputed)	N
1440	chr12	112072423	112072424	rs11065987	23297363	Cordell HJ	2013-01-07	Hum Mol Genet	Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.	Tetralogy of Fallot	835 European ancestry cases, 5,159 European ancestry controls	798 European ancestry cases, 2,931 European ancestry controls	12q24.12	PTPN11	rs11065987-G	0.418	8E-11		1.344	[1.208-1.496]	Illumina [516131]	N
1440	chr12	112072423	112072424	rs11065987	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	12q24.12	BRAP	rs11065987-G	0.42	2E-9		0.97	[0.62-1.32] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1440	chr12	112072423	112072424	rs11065987	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	12q24.12	BRAP	rs11065987-G	0.42	7E-12		0.96	[0.57-1.35] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1440	chr12	112072423	112072424	rs11065987	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	12q24.12	TRAFD1	rs11065987-A	NR	1E-11		0.06	[0.04-0.08] g/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1440	chr12	112072423	112072424	rs11065987	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hematocrit	24,167 European ancestry individuals	9,456 European ancestry individuals	12q24.12	SH2B3, ATXN2	rs11065987-G	NR	1E-12		0.17	[0.12-0.22] % decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1440	chr12	112110488	112110489	rs3782886	24916648	Hirokawa M	2014-06-11	Eur J Hum Genet	A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.	Myocardial infarction	1,666 Japanese ancestry cases, 3,198 Japanese ancestry controls	11,412 Japanese ancestry cases, 28,397 Japanese ancestry controls	12q24.12	ALDH2	rs3782886-A	0.26	1E-14		1.46	[1.33-1.60]	Illumina [455781]	N
1440	chr12	112110488	112110489	rs3782886	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	12q24.12	BRAP, ALDH2	rs3782886-G	0.27	5E-9	(ALT)	0.079	[0.052-0.106] unit decrease	Illumina [561583]	N
1440	chr12	112168008	112168009	rs11066015	23364394	Lee JY	2013-01-31	J Hum Genet	A genome-wide association study of a coronary artery disease risk variant.	Coronary heart disease	2,123 Korean ancestry cases, 3,591 Korean ancestry controls	3,052 Japanese ancestry cases, 4,976 Japanese ancestry controls	12q24.12	RPL6-PTPN11, ACAD10, ALDH2, C12orf51	rs11066015-A	NR	5E-11		1.41	[1.27-1.56]	Affymetrix [521786]	N
1440	chr12	112168008	112168009	rs11066015	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	12q24.12	ACAD10	rs11066015-A	0.19	7E-21		1.38	[1.29-1.48]	Affymetrix [666141]	N
1440	chr12	112190437	112190438	rs6490294	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	12q24.12	ACAD10	rs6490294-A	0.337	5E-9	(Platelet Count)	4.38	[2.91-5.85] 10^9 L decrease	Affymetrix, Illumina [~ 2200000] (imputed)	N
1441	chr12	112211832	112211833	rs2238151	23041239	Traylor M	2012-10-05	Lancet Neurol	Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.	Stroke (ischemic)	12,389 European ancestry cases, 62,004 European ancestry controls	1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls	12q24.12	ALDH2	rs2238151-T	0.66	1E-6	(FS)	1.13	[1.08-1.19]	Affymetrix, Illumina [NR] (imputed)	N
1441	chr12	112241765	112241766	rs671	26174136	Setoh K	2015-07-15	Nat Commun	Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels.	Serum alpha1-antitrypsin levels	3,294 Japanese ancestry individuals	6,065 Japanese ancestry individuals	12q24.12	ALDH2	rs671-A	0.269	2E-23		2.83	[2.28-3.38] mg dl-1 increase	Illumina [6569727] (imputed)	N
1441	chr12	112241765	112241766	rs671	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	12q24.12	ALDH2	rs671-G	0.76	3E-11		0.0378	[0.027-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1441	chr12	112241765	112241766	rs671	24277619	Quillen EE	2013-11-26	Am J Med Genet B Neuropsychiatr Genet	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Response to alcohol consumption (flushing response)	108 Han Chinese ancestry cases, 190 Han Chinese ancestry controls	NA	12q24.12	ALDH2	rs671-?		5E-26		1.81	unit decrease	Illumina [247725]	N
1441	chr12	112241765	112241766	rs671	24277619	Quillen EE	2013-11-26	Am J Med Genet B Neuropsychiatr Genet	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Alcohol dependence	102 Han Chinese ancestry cases, 212 Han Chinese ancestry controls	NA	12q24.12	ALDH2	rs671-?	NR	5E-8		0.88	unit increase	Illumina [247725]	N
1441	chr12	112241765	112241766	rs671	24277619	Quillen EE	2013-11-26	Am J Med Genet B Neuropsychiatr Genet	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Alcohol consumption (maxi-drinks)	272 Han Chinese ancestry individuals	NA	12q24.12	ALDH2	rs671-?	NR	1E-16		0.16	unit increase	Illumina [247725]	N
1441	chr12	112241765	112241766	rs671	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	12q24.12	ALDH2	rs671-A	0.27	3E-10		0.0045	[0.0031-0.0059] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
1441	chr12	112241765	112241766	rs671	22286173	Low SK	2012-01-27	Hum Mol Genet	Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.	Intracranial aneurysm	1,383 Japanese ancestry cases, 5,484 Japanese ancestry controls	1,048 Japanese ancestry cases, 7,212 Japanese ancestry controls	12q24.12	ALDH2	rs671-C	0.746	3E-6		1.24	[1.148-1.338]	Illumina [565149]	N
1441	chr12	112241765	112241766	rs671	22171074	Tan A	2011-12-30	Hum Mol Genet	A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.	Triglycerides	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	12q24.12	ALDH2	rs671-?	NR	2E-6				Illumina [1940243] (imputed)	N
1441	chr12	112241765	112241766	rs671	21971053	Takeuchi F	2011-10-05	Eur J Hum Genet	Genome-wide association study of coronary artery disease in the Japanese.	Coronary heart disease	806 Japanese ancestry cases, 1,337 Japanese ancestry controls	3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls	12q24.12	ALDH2	rs671-A	0.23	2E-34		1.43	[1.35-1.51]	Illumina [451382]	N
1441	chr12	112241765	112241766	rs671	21372407	Takeuchi F	2011-03-01	Circ J	Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.	Drinking behavior	733 Japanese ancestry cases, 729 Japanese ancestry controls	2,794 Japanese ancestry drinkers, 1,521 Japanese ancestry chance drinkers, 1,351 Japanese ancestry non-drinkers	12q24.12	BRAP, ALDH2	rs671-?	0.75	4E-211		6.25	[5.56-7.14]	Illumina [456827]	N
1441	chr12	112241765	112241766	rs671	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin concentration	14,377 Japanese ancestry individuals	NA	12q24.12	ALDH2	rs671-A	0.26	7E-10		0.083	[0.058-0.108] unit decrease	Illumina [561583]	N
1441	chr12	112241765	112241766	rs671	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	12q24.12	ALDH2	rs671-A	0.26	5E-9	(GGT)	0.123	[0.082-0.164] unit decrease	Illumina [561583]	N
1441	chr12	112241765	112241766	rs671	19698717	Cui R	2009-08-18	Gastroenterology	Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.	Esophageal cancer	182 Japanese ancestry cases, 927 Japanese ancestry controls	782 Japanese ancestry cases, 1,898 Japanese ancestry controls	12q24.12	BRAP, ALDH2	rs671-A	NR	3E-24		1.67	[1.58-1.76]	Illumina [359195]	N
1443	chr12	112486817	112486818	rs17696736	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Ischemic stroke	12,389 cases, 62,004 controls	NA	12q24.13	SH2B3	rs17696736-G	NR	6E-8		1.1	[1.06-1.14]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1443	chr12	112486817	112486818	rs17696736	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	12q24.13	C12orf30	rs17696736-G	NR	6E-18				Affymetrix [up to 335565]	N
1443	chr12	112486817	112486818	rs17696736	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	12q24.13	SH2B3, TRAFD1, PTPN11, LNK	rs17696736-G	0.42	2E-14		1.34	[1.16-1.53]	Affymetrix [469557]	N
1443	chr12	112486817	112486818	rs17696736	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	12q24.13	C12orf30	rs17696736-G	0.42	2E-16		1.22	[1.15-1.28]	Affymetrix [NR]	N
1443	chr12	112521447	112521448	rs4767364	21437268	McKay JD	2011-03-17	PLoS Genet	A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.	Upper aerodigestive tract cancers	2,091 European ancestry cases, 8,334 European ancestry controls	6,574 European ancestry cases, 7,892 European ancestry controls	12q24.13	ALDH2	rs4767364-A	0.29	2E-8		1.13	[1.08-1.18]	Illumina [294620]	N
1444	chr12	112591685	112591686	rs17630235	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.13	TRAFD1	rs17630235-G	0.589	5E-7		0.015	[0.0092-0.0214] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1444	chr12	112591685	112591686	rs17630235	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.13	TRAFD1	rs17630235-G	0.584	6E-7	(EA)	0.016	[0.0095-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1444	chr12	112645400	112645401	rs2074356	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	12q24.13	C12orf51	rs2074356-T		6E-9	(2-hPG)	0.165	[0.11-0.22] mmol-1 decrease	Affymetrix [357789]	N
1444	chr12	112645400	112645401	rs2074356	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	12q24.13	C12orf51	rs2074356-T		6E-14	(FPG)	0.061	[0.045-0.077] mmol-1 decrease	Affymetrix [357789]	N
1444	chr12	112645400	112645401	rs2074356	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	12q24.13	C12orf51	rs2074356-T		1E-16	(1-hPG)	0.321	[0.24-0.40] mmol-1 decrease	Affymetrix [357789]	N
1444	chr12	112645400	112645401	rs2074356	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	12q24.13	C12orf51	rs2074356-A	0.23	2E-9		0.0064	[0.0042-0.0086] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
1444	chr12	112645400	112645401	rs2074356	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	HDL cholesterol	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	12q24.13	C12orf51	rs2074356-T	0.15	7E-37		0.035	[0.030-0.040] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1444	chr12	112645400	112645401	rs2074356	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Gamma glutamyl transpeptidase	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	12q24.13	C12orf51	rs2074356-T	0.15	3E-126		0.0161	[0.015-0.017] IU/L increase	Affymetrix [~ 2200000] (imputed)	N
1444	chr12	112645400	112645401	rs2074356	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	12q24.13	C12orf51	rs2074356-T	0.13	2E-31		1.56	[1.45-1.68]	Affymetrix [666141]	N
1444	chr12	112645400	112645401	rs2074356	21270382	Baik I	2011-01-26	Am J Clin Nutr	Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.	Alcohol consumption	1,721 Korean ancestry male individuals	1,113 Korean ancestry male individuals	12q24.13	C12orf51, ALDH2	rs2074356-T	0.15	9E-59		1.06	[0.94-1.18] unit decrease	Affymetrix [315914]	N
1444	chr12	112645400	112645401	rs2074356	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Biomedical quantitative traits	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	12q24.13	C12orf51	rs2074356-T	0.15	8E-12	(waist-hip ratio)	0.01	[0.004-0.008] decrease	Affymetrix [2156535] (imputed)	N
1445	chr12	112817782	112817783	rs11066280	25705158	Shim U	2014-12-31	Genomics Inform	Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts.	Metabolic syndrome	3,253 Korean ancestry cases, 5,589 Korean ancestry controls	NA	12q24.13	C12orf51	rs11066280-?	NR	1E-7				Affymetrix [312121]	N
1445	chr12	112817782	112817783	rs11066280	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	12q24.13	ALDH2	rs11066280-T	0.81	1E-7		0.96	[0.63-1.29] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1445	chr12	112817782	112817783	rs11066280	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	12q24.13	ALDH2	rs11066280-T	0.81	6E-8				Affymetrix, Illumina [2485448] (imputed)	N
1445	chr12	112817782	112817783	rs11066280	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	12q24.13	ALDH2	rs11066280-T	0.81	3E-10		0.62	[0.42-0.82] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1445	chr12	112817782	112817783	rs11066280	23364009	Yang X	2013-01-30	Am J Clin Nutr	Common variants at 12q24 are associated with drinking behavior in Han Chinese.	Drinking behavior	1,420 Han Chinese ancestry cases, 3,590 Han Chinese ancestry controls	4,896 Han Chinese ancestry cases, 13,293 Han Chinese ancestry controls	12q24.13	C12orf51, ALDH2, CCDC63, MYL2	rs11066280-T	0.84	3E-215		3.33	[3.23-3.45]	Affymetrix [~ 2200000] (imputed)	N
1445	chr12	112817782	112817783	rs11066280	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	12q24.13	C12orf51	rs11066280-A	0.17	2E-11		1.19	[1.13-1.25]	Affymetrix [~ 2200000] (imputed)	N
1445	chr12	112817782	112817783	rs11066280	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	12q24.13	C12orf51	rs11066280-A	0.17	8E-22	(ALT)	0.0045	[0.0035-0.0055] IU/L increase	Affymetrix [~ 2200000] (imputed)	N
1445	chr12	112817782	112817783	rs11066280	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	12q24.13	C12orf51	rs11066280-A	0.17	3E-63	(ALT)	0.0016	[0.0014-0.0018] IU/L increase	Affymetrix [~ 2200000] (imputed)	N
1445	chr12	112817782	112817783	rs11066280	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	12q24.13	RPL6	rs11066280-A	0.21	2E-15		1.3	[1.22-1.38]	Affymetrix [666141]	N
1445	chr12	112817782	112817783	rs11066280	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	12q24.13	RPL6, ALDH2, PTPN11	rs11066280-T	0.75	8E-31	(Systolic)	1.56	[1.31-1.81] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1445	chr12	112817782	112817783	rs11066280	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	12q24.13	RPL6, ALDH2, PTPN11	rs11066280-T	0.75	1E-35	(Diastolic)	1.01	[0.85-1.17] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1446	chr12	112871371	112871372	rs11066301	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	12q24.13	PTPN11	rs11066301-G	NR	8E-12	(PLT)	4.65	[3.32-5.98] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1447	chr12	113100993	113100994	rs17824620	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	12q24.13	RPH3A, PTPN11	rs17824620-C	NR	1E-8		2.457	[1.62-3.3] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1448	chr12	113158837	113158838	rs7312122	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	12q24.13	intergenic	rs7312122-G	0.16	9E-6			[NR]	Affymetrix [398699]	N
1448	chr12	113173493	113173494	rs3803064	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	12q24.13	AC007425.1	rs3803064-?	NR	7E-6				Illumina [874956]	N
1449	chr12	113365620	113365621	rs11066453	23575436	Go MJ	2013-04-11	J Hum Genet	New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.	Glycemic traits	7,696 Korean ancestry individuals	6,536 Korean ancestry individuals	12q24.13	OAS1	rs11066453-G		5E-9	(1-hPG)	0.242	[0.16-0.32] mmol-1 decrease	Affymetrix [357789]	N
1449	chr12	113365620	113365621	rs11066453	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Gamma glutamyl transpeptidase	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	12q24.13	intergenic	rs11066453-G	0.13	6E-44		0.0097	[0.0083-0.0111] IU/L increase	Affymetrix [~ 2200000] (imputed)	N
1450	chr12	113409175	113409176	rs2072134	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	HDL cholesterol	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	12q24.13	OAS3	rs2072134-A	0.11	6E-6		0.0204	[0.012-0.029] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1450	chr12	113409175	113409176	rs2072134	21270382	Baik I	2011-01-26	Am J Clin Nutr	Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.	Alcohol consumption	1,721 Korean ancestry male individuals	1,113 Korean ancestry male individuals	12q24.13	OAS3	rs2072134-A	0.11	6E-17		0.61	[0.49-0.73] unit decrease	Affymetrix [315914]	N
1450	chr12	113491783	113491784	rs7956193	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12q24.13	DTX1, OAS2, RASAL1	rs7956193-T	0.29	1E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1451	chr12	113607501	113607502	rs2384207	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	12q24.13	DDX54, TPCN1, SLC24A6, OAS1, OAS2, OAS3	rs2384207-?	NR	5E-8	(Response)	0.06	[0.040-0.080] ng/dL increase	Affymetrix [2543887] (imputed)	N
1454	chr12	113936995	113936996	rs76270203	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12q24.13	NR	rs76270203-?	NR	9E-7				Affymetrix [5486770] (imputed)	N
1454	chr12	113972652	113972653	rs12830035	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	12q24.13	intergenic	rs12830035-C	0.86755463	8E-6		0.045812342	[0.026-0.066] unit decrease	Illumina [1632371] (imputed)	N
1454	chr12	113979655	113979656	rs11066587	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	12q24.13	intergenic	rs11066587-G	0.16	5E-6	(CRP)	0.26	[NR] mg/L increase	Affymetrix [408775]	N
1456	chr12	114248190	114248191	rs12816806	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	12q24.13	intergenic	rs12816806-?	NR	9E-6		0.8384	unit increase	Illumina [2543888] (imputed)	N
1457	chr12	114359264	114359265	rs3782455	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	12q24.21	RBM19	rs3782455-?		6E-6				Illumina [859311]	N
1459	chr12	114585579	114585580	rs10492336	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	12q24.21	TBX5	rs10492336-?	0.82	4E-14		1.41	[1.30-1.54]	Affymetrix [662108]	N
1459	chr12	114637422	114637423	rs7294372	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12q24.21	TBX5	rs7294372-T	0.93	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1459	chr12	114637847	114637848	rs4767234	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	12q24.21	TBX5	rs4767234-A	0.59	6E-7	(Smoker)	1.17	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
1459	chr12	114666201	114666202	rs10774740	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	12q24.21	TBX5	rs10774740-G	0.6	3E-10		1.14	[1.09-1.18]	Illumina [1531807] (imputed)	N
1459	chr12	114685570	114685571	rs1270884	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	12q24.21	TBX5, LOC255480	rs1270884-A	0.49	7E-11		1.07	[1.04-1.10]	Illumina [~ 2600000] (imputed)	N
1460	chr12	114705585	114705586	rs1920592	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	12q24.21	intergenic	rs1920592-?	NR	1E-6	(Mood symptoms)	0.1125	[NR] unit decrease	Affymetrix [696491]	N
1460	chr12	114714265	114714266	rs10744816	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q24.21	TBX5	rs10744816-G	0.234	6E-7	(Amylin )	0.04	[NR] pM increase	Illumina [899892]	N
1460	chr12	114793239	114793240	rs883079	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	12q24.21	TBX5	rs883079-C	0.29	1E-10		0.49	[0.33-0.65] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1460	chr12	114795442	114795443	rs3825214	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	12q24.21	TBX5	rs3825214-G	0.22	3E-13	(QRS duration)	7.35	[5.37-9.33] % s.d. increase	Illumina [306060]	N
1460	chr12	114795442	114795443	rs3825214	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	12q24.21	TBX5	rs3825214-G	0.22	3E-12	(PR interval)	7.36	[5.29-9.43] % s.d. increase	Illumina [306060]	N
1460	chr12	114795442	114795443	rs3825214	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	12q24.21	TBX5	rs3825214-G	0.22	1E-7	(QT interval)	5.88	[3.72-8.03] % s.d. increase	Illumina [306060]	N
1460	chr12	114799973	114799974	rs7312625	21347284	Smith JG	2011-02-10	PLoS Genet	Genome-wide association studies of the PR interval in African Americans.	PR interval	6,247 African American individuals	2,022 African American individuals	12q24.21	TBX5	rs7312625-A	0.71	7E-9		3.23	[2.15-4.31] unit decrease	Affymetrix [2147483647] (imputed)	N
1460	chr12	114801771	114801772	rs7135659	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	PR interval	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	12q24.21	TBX5, TBX3	rs7135659-G	0.57	7E-7		1.99	[1.21-2.77] unit increase	Affymetrix [2100000] (imputed)	N
1460	chr12	114802137	114802138	rs1895585	23139255	Butler AM	2012-11-08	Circ Cardiovasc Genet	Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.	PR interval	13,415 African American individuals	NA	12q24.21	TBX5	rs1895585-A	0.30	1E-19		3.19	[2.50-3.88] unit increase	Affymetrix, Illumina [2845108] (imputed)	N
1460	chr12	114804579	114804580	rs3782464	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12q24.21	NR	rs3782464-?	NR	7E-6	(AA)	0.3457	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1461	chr12	114868137	114868138	rs1265507	22532574	Stevens KN	2012-04-24	Hum Mol Genet	Identification of a novel percent mammographic density locus at 12q24.	Percent mammographic density	1,241 European ancestry female individuals	9,126 European ancestry individuals	12q24.21	TBX5, TBX3	rs1265507-?	NR	1E-8				Illumina [2510880]	N
1463	chr12	115094259	115094260	rs11067228	21160077	Gudmundsson J	2010-12-15	Sci Transl Med	Genetic correction of PSA values using sequence variants associated with PSA levels.	Serum prostate-specific antigen levels	7,538 European ancestry individuals	2,373 European ancestry individuals	12q24.21	TBX3	rs11067228-A	0.56	2E-11		8.3	[NR] % increase	Illumina [304070]	N
1463	chr12	115116351	115116352	rs59336	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	12q24.21	TBX3	rs59336-T	0.48	4E-7		1.09	[1.06-1.13]	Affymetrix, Illumina [2708280] (imputed)	N
1463	chr12	115184052	115184053	rs11067278	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	12q24.21	TBX3, MED13L	rs11067278-C	0.36	2E-6	(women)	0.085	[0.05-0.12] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1465	chr12	115346423	115346424	rs1896312	20062060	Pfeufer A	2010-01-10	Nat Genet	Genome-wide association study of PR interval.	PR interval	28,517 European ancestry individuals	NA	12q24.21	TBX5, TBX3	rs1896312-C	0.28	3E-17		1.95	[1.50-2.40] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1465	chr12	115352730	115352731	rs2384550	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	12q24.21	TBX5, TBX3	rs2384550-G	0.66	4E-6	(Mean Arterial Pressure)	0.227	[0.13-0.32] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1465	chr12	115352730	115352731	rs2384550	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Diastolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	12q24.21	TBX5, TBX3	rs2384550-A	0.35	4E-8		0.35	[0.23-0.47] mm Hg decrease	Affymetrix, Illumina [2533153] (imputed)	N
1465	chr12	115380392	115380393	rs10850408	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	12q24.21	intergenic	rs10850408-?	NR	9E-7		1.59	[1.32-1.92]	Illumina [2505093] (imputed)	N
1465	chr12	115381739	115381740	rs10850409	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	PR segment	16,468 European ancestry individuals	NA	12q24.21	MED13, TBX3	rs10850409-A	0.273	8E-13		1.651	[1.20-2.10] unit increase	Illumina [2300000] (imputed)	N
1465	chr12	115468958	115468959	rs144700679	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	12q24.21	NR	rs144700679-?		4E-7	(PCB194)	1.3	[0.79-1.81] unit decrease	Illumina [8736858] (imputed)	N
1466	chr12	115502717	115502718	rs2194980	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	12q24.21	intergenic	rs2194980-?	0.33	3E-7	(Tyrosine)			Affymetrix [187454]	N
1466	chr12	115552436	115552437	rs35444	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	12q24.21	TBX3	rs35444-A	0.77	2E-7		0.83	[0.52-1.14] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1466	chr12	115552436	115552437	rs35444	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	12q24.21	TBX3	rs35444-A	0.75	8E-7	(Systolic)	0.63	[0.38-0.88] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1466	chr12	115552436	115552437	rs35444	21572416	Kato N	2011-05-15	Nat Genet	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Blood pressure	19,608 East Asian ancestry individuals	30,765 East Asian ancestry individuals	12q24.21	TBX3	rs35444-A	0.75	1E-10	(Diastolic)	0.5	[0.34-0.66] mm Hg increase	Affymetrix, Illumina [1700000] (imputed)	N
1467	chr12	115617640	115617641	rs55922880	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	12q24.21	NR	rs55922880-?	NR	1E-9		0.4066	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1468	chr12	115836521	115836522	rs1292011	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	12q24.21	intergenic	rs1292011-A	0.58	9E-22		1.09	[1.06-1.11]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1469	chr12	115891402	115891403	rs7315438	21761138	Peters U	2011-07-15	Hum Genet	Meta-analysis of new genome-wide association studies of colorectal cancer risk.	Colorectal cancer	2,906 European ancestry cases, 3,416 European ancestry controls	8,161 European ancestry cases, 9,101 European ancestry controls	12q24.21	MED13L	rs7315438-?	0.58	6E-6		1.11	[1.06-1.15]	Illumina [378739]	N
1471	chr12	116198340	116198341	rs11067763	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	12q24.21	MED13L	rs11067763-A	0.62	6E-16		0.81	[0.61-1.01] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1471	chr12	116198340	116198341	rs11067763	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	12q24.21	MED13L	rs11067763-A	0.62	1E-7				Affymetrix, Illumina [2485448] (imputed)	N
1471	chr12	116198340	116198341	rs11067763	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	12q24.21	MED13L	rs11067763-A	0.62	2E-18		0.51	[0.39-0.63] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
1471	chr12	116211862	116211863	rs17719439	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q24.21	NR	rs17719439-G	0.96234668518024	1E-6	(IGP17)	0.4037	[0.24-0.57] unit decrease	Illumina [~ 2500000] (imputed)	N
1477	chr12	117002657	117002658	rs2089222	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	12q24.22	KRTHB5	rs2089222-A	0.03	8E-8		2.26	[1.60-3.0]	Affymetrix [307944]	N
1478	chr12	117154261	117154262	rs2279695	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12q24.22	C12orf49, MAP1LC3B2, RNFT2	rs2279695-A	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
1479	chr12	117199413	117199414	rs12322695	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q24.22	RNFT2	rs12322695-A	0.0090	7E-6	(Vigorous activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1479	chr12	117295332	117295333	rs17429217	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	12q24.22	HRK, RNFT2	rs17429217-?	NR	3E-6		2.436	unit increase	Illumina [2543888] (imputed)	N
1480	chr12	117323366	117323367	rs77956314	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	12q24.22	HRK	rs77956314-T	0.91	3E-15	(Hippocampus, EA)	55.18	[41.48-68.88] mm3 decrease	Affymetrix, Illumina [NR] (imputed)	N
1480	chr12	117327591	117327592	rs7294919	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	12q24.22	HRK	rs7294919-?	NR	7E-10	(Hippocampus, EA)	48.84	[33.34-64.34] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1480	chr12	117327591	117327592	rs7294919	22504421	Bis JC	2012-04-15	Nat Genet	Common variants at 12q14 and 12q24 are associated with hippocampal volume.	Hippocampal volume	9,232 European ancestry individuals	2,318 European ancestry individuals	12q24.22	HRK	rs7294919-T	0.91	3E-11		107.8	[76.05-139.55] mm3 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1480	chr12	117327591	117327592	rs7294919	22504417	Stein JL	2012-04-15	Nat Genet	Identification of common variants associated with human hippocampal and intracranial volumes.	Brain structure	2,020 European ancestry neuropsychiatric disorder cases, 5,775 European ancestry controls	599 European ancestry neuropsychiatric disorder cases, 11,915 European ancestry controls, 143 European ancestry and African American neuropsychiatric disorder cases, 94 European ancestry and African American controls, 605 Hispanic controls	12q24.22	HRK, FBXW8	rs7294919-C	0.099	7E-16	(Mean bilateral hippocampal volume)	47.58	[36.04-59.12] mm3 increase	Affymetrix, Illumina [NR] (imputed)	N
1483	chr12	117715619	117715620	rs2293052	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q24.22	NR	rs2293052-G	NR	7E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1483	chr12	117747589	117747590	rs73208120	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	12q24.22	NOS1	rs73208120-G	0.11	3E-8	(EA)	1.16	[1.11-1.23]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1483	chr12	117747589	117747590	rs73208120	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	12q24.22	NOS1	rs73208120-G	0.11	3E-8		1.16	[1.11-1.23]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1483	chr12	117751424	117751425	rs478597	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	12q24.22	intergenic	rs478597-?	NR	8E-6	(binary)			Perlegen [429981]	N
1484	chr12	117933499	117933500	rs137949660	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	12q24.22	NR	rs137949660-?	NR	1E-6	(Latino)	0.9133	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1485	chr12	118062073	118062074	rs144850704	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12q24.22	NR	rs144850704-?	NR	1E-6	(AA)	0.7013	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1486	chr12	118106193	118106194	rs10431397	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	12q24.22	KSR2	rs10431397-A	0.012	7E-6		1.73	[NR]	Illumina [580699]	N
1486	chr12	118169908	118169909	rs4304868	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12q24.23	KSR2	rs4304868-A	0.16	8E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1487	chr12	118272870	118272871	rs2723279	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	12q24.23	intergenic	rs2723279-?	0.69	5E-6		1.06	[1.03-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1487	chr12	118311742	118311743	rs4767631	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	12q24.23	KSR2	rs4767631-A	0.31	6E-7	(LDL cholesterol)	0.12	[0.11-0.23] mmol/L decrease	Illumina [316730]	N
1487	chr12	118353870	118353871	rs10444502	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	12q24.23	KSR2	rs10444502-C	0.28	6E-6	(total cholesterol)	0.17	[0.10-0.24] mmol/L decrease	Illumina [316730]	N
1488	chr12	118443869	118443870	rs146238395	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	12q24.23	NR	rs146238395-?	NR	3E-6	(Native Hawaiian)	1.1114	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1488	chr12	118454668	118454669	rs5745796	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q24.23	RFC5	rs5745796-A	0.032	5E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1489	chr12	118524425	118524426	rs7957470	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q24.23	VSIG10	rs7957470-G	0.259	8E-6	(Arm span )	0.02	[NR] cm increase	Illumina [899892]	N
1489	chr12	118589861	118589862	rs795484	24909733	Cook-Sather SD	2014-06-05	Pain	TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population.	Morphine dose requirement in tonsillectomy and adenoidectomy surgery	277 European ancestry children, 241 African American children	75 European ancestry children, 70 African American children	12q24.23	TAOK3, VSIG10, PEBP1, SUDS3	rs795484-A	0.34	3E-7	(EA)	16.1	[10.0-21.1] unit increase	Illumina [509904]	N
1491	chr12	118791440	118791441	rs673078	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	12q24.23	TAOK3, SUDS3	rs673078-?		2E-6	(M)	30.26	[17.42-43.1] unit decrease	Illumina [693128]	N
1491	chr12	118791440	118791441	rs673078	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	12q24.23	TAOK3	rs673078-?		5E-6	(SI+M)	0.08	[-0.0964-0.2564] unit decrease	Illumina [693128]	N
1491	chr12	118840456	118840457	rs12316703	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	12q24.23	SUDS3	rs12316703-G	0.9171	4E-6		0.6574	[0.38-0.94] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1492	chr12	118893247	118893248	rs11613092	26049409	Hirano A	2015-06-05	Psychiatr Genet	A genome-wide association study of late-onset Alzheimer's disease in a Japanese population.	Alzheimer's disease (late onset)	489 Japanese ancestry APOE-?4 noncarrier cases, 6,463 Japanese ancestry APOE-?4 noncarrier controls, 323 Japanese ancestry APOE-?4 carrier cases, 1,484 Japanese ancestry APOE-?4 carrier controls, 4 Japanese ancestry cases, 45 Japanese ancestry controls	528 Japanese ancestry APOE-?4 noncarrier cases, 5,824 Japanese ancestry APOE-?4 noncarrier controls, 480 Japanese ancestry APOE-?4 carrier cases, 1,364 Japanese ancestry APOE-?4 carrier controls, 3 Japanese ancestry cases, 24 Japanese ancestry controls	12q24.23	intergenic	rs11613092-G	0.093	7E-6	(noncarrier)	1.64	[1.32-2.04]	Illumina [561143]	N
1492	chr12	118893247	118893248	rs11613092	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	12q24.23	SUDS3	rs11613092-T	0.08	6E-6	(PS levels)	8.16	[4.63-11.69] iu/ml increase	Illumina [472123]	N
1494	chr12	119163078	119163079	rs11069062	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q24.23	KIAA1853	rs11069062-A	0.124	3E-6	(Moderate activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1495	chr12	119387917	119387918	rs1997111	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal T-tau levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	12q24.23	intergenic	rs1997111-T	NR	1E-8	(Controls)			Illumina [498205]	N
1497	chr12	119619996	119619997	rs78852656	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	12q24.23	HSPB8	rs78852656-?	NR	4E-8				Affymetrix [5486770] (imputed)	N
1499	chr12	119818508	119818509	rs11064768	18332876	Kirov G	2008-03-11	Mol Psychiatry	A genome-wide association study in 574 schizophrenia trios using DNA pooling.	Schizophrenia	574 European ancestry trios, 605 European ancestry controls	NA	12q24.23	CCDC60	rs11064768-A	0.91	1E-6				Illumina [~ 550000]	N
1500	chr12	119989645	119989646	rs7137869	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	12q24.23	CCDC60	rs7137869-?	NR	6E-7	(walking speed exam 7)			Affymetrix [70897]	N
1500	chr12	120017705	120017706	rs11064837	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q24.23	NR	rs11064837-A	NR	7E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1501	chr12	120146924	120146925	rs11064881	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q24.23	PRKAB1	rs11064881-A	0.07342	2E-7	(EA)	1.1273501	[1.08-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1501	chr12	120146924	120146925	rs11064881	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	12q24.23	PRKAB1	rs11064881-A	0.07342	6E-8	(EA)	1.1044849	[1.07-1.14]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1501	chr12	120162198	120162199	rs4767841	25524241	Richter HE	2014-12-15	J Urol	Genetic Contributions to Urgency Urinary Incontinence in Women.	Urgency urinary incontinence	1,102 European ancestry cases, 405 European ancestry controls	1,133 European ancestry cases, 371 European ancestry controls	12q24.23	CIT	rs4767841-?	NR	9E-7		1.19	[1.00-1.42]	Illumina [9077347] (imputed)	N
1504	chr12	120455763	120455764	rs11064994	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	12q24.23	CCDC64	rs11064994-?	0.05521	6E-6	(PAL6)			Illumina [475971]	N
1504	chr12	120562973	120562974	rs11065028	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q24.23	GCN1L1	rs11065028-G	0.31	4E-6	(AST )	0.03	[NR] U/L increase	Illumina [899892]	N
1507	chr12	120880433	120880434	rs17431357	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	12q24.31	TRIAP1	rs17431357-C	0.01	1E-6	(Insulin)	34.0	[22.00 - 44.00] % decrease	Affymetrix [872243]	N
1507	chr12	120974509	120974510	rs614226	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	12q24.31	RNF10, COQ5	rs614226-C	0.83	2E-6	(ESRD)	1.35	[1.19-1.54]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1509	chr12	121160614	121160615	rs2066938	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12q24.31	ACADS	rs2066938-A	0.74	3E-630	(butyrylcarnitine)	0.211	[0.2-0.22] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1509	chr12	121160614	121160615	rs2066938	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	12q24.31	ACADS	rs2066938-G	0.252	4E-305	(SM-1 + 12 other traits)	0.606	[NR] unit increase	Affymetrix, Illumina [534665]	N
1509	chr12	121175523	121175524	rs2014355	20037589	Illig T	2009-12-27	Nat Genet	A genome-wide perspective of genetic variation in human metabolism.	Metabolite levels	1,029 European ancestry individuals	1,202 European ancestry individuals	12q24.31	ACADS	rs2014355-T	0.28	5E-96	(C3/C4)	21.5	[NR] % variance	Affymetrix [517480]	N
1509	chr12	121177271	121177272	rs3916	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	12q24.31	ACADS	rs3916-G	0.28	2E-22	(0.8875, Unknown)	0.4	[NR] unit increase	Illumina [713870] (imputed)	N
1509	chr12	121236257	121236258	rs1039302	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	12q24.31	SPPL3	rs1039302-T	0.36	5E-6	(CRP)	0.21	[NR] mg/L increase	Affymetrix [408775]	N
1510	chr12	121363723	121363724	rs6489785	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	12q24.31	TCF1, HNF1A	rs6489785-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1511	chr12	121388961	121388962	rs2650000	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	12q24.31	LEF1	rs2650000-A	0.45	3E-11	(CRP)	0.4	[0.25-0.55] mmol/l decrease	Illumina [329091]	N
1511	chr12	121388961	121388962	rs2650000	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	12q24.31	HNF1A	rs2650000-A	0.36	2E-8		0.07	[0.03-0.11] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1511	chr12	121402931	121402932	rs7305618	21647738	Wu Y	2011-06-07	Inflammation	Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.	C-reactive protein	1,709 Filipino ancestry female individuals	NA	12q24.31	HNF1A	rs7305618-T	0.52	1E-8		0.267	[0.18-0.36] unit increase	Affymetrix [2073674] (imputed)	N
1511	chr12	121402931	121402932	rs7305618	21573907	Parra EJ	2011-05-15	Diabetologia	Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.	Type 2 diabetes	1,804 Hispanic cases, 780 Hispanic controls	European ancestry individuals	12q24.31	HNF1A	rs7305618-C	NR	2E-8		1.14	[1.09-1.20]	Affymetrix [315658]	N
1511	chr12	121403723	121403724	rs7953249	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	12q24.31	TCF1, HNF1A	rs7953249-G	0.44	1E-6	(CRP)			Illumina [588352]	N
1511	chr12	121403723	121403724	rs7953249	21203500	Lauc G	2010-12-23	PLoS Genet	Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation.	N-glycan levels	2,559 European ancestry individuals	NA	12q24.31	OASL, C12orf43, HNF1A	rs7953249-G	0.45	2E-8	(DG7)	0.17	[0.11-0.23] unit decrease	Illumina [~ 300000]	N
1511	chr12	121405125	121405126	rs2251468	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	12q24.31	HNF1A	rs2251468-A	0.65	1E-12		0.0512	[0.037-0.065] unit decrease	Affymetrix, Illumina [2090256] (imputed)	N
1511	chr12	121407255	121407256	rs12815613	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	12q24.31	HNF1A, C12orf43	rs12815613-A	NR	3E-6		4.654	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1511	chr12	121416649	121416650	rs1169288	26174136	Setoh K	2015-07-15	Nat Commun	Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels.	Serum alpha1-antitrypsin levels	3,294 Japanese ancestry individuals	6,065 Japanese ancestry individuals	12q24.31	HNF1A	rs1169288-C	0.487	2E-12		1.79	[1.3-2.28] mg dl-1 increase	Illumina [6569727] (imputed)	N
1511	chr12	121416649	121416650	rs1169288	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	12q24.31	HNF1A	rs1169288-C	0.34	6E-21		0.038	[NR] unit increase	NR [NR] (imputed)	N
1511	chr12	121416649	121416650	rs1169288	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	12q24.31	HNF1A	rs1169288-C	0.34	4E-17		0.032	[NR] unit increase	NR [NR] (imputed)	N
1511	chr12	121416649	121416650	rs1169288	22010049	Middelberg RP	2011-11-01	Hum Mol Genet	Loci affecting gamma-glutamyl transferase in adults and adolescents show age &#x000d7; SNP interaction and cardiometabolic disease associations.	Gamma gluatamyl transferase levels	12,526 European ancestry individuals	NA	12q24.31	HNF1A	rs1169288-G	0.31	2E-18		0.132	[0.10-0.16] unit decrease	Illumina [2380486] (imputed)	N
1511	chr12	121416649	121416650	rs1169288	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	12q24.31	HNF1A	rs1169288-C	0.33	1E-15		1.42	[1.05-1.79] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1511	chr12	121416649	121416650	rs1169288	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	12q24.31	HNF1A	rs1169288-C	0.33	1E-14		1.45	[1.06-1.84] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1511	chr12	121416987	121416988	rs2244608	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	12q24.31	HNF1A	rs2244608-A	0.68	8E-8	(women)	0.036	[0.023-0.049] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1511	chr12	121420259	121420260	rs7979473	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	12q24.31	HNF1A	rs7979473-A	0.443	1E-10	(AA women)	0.119	[0.082-0.156] unit decrease	Affymetrix [up to 2203609] (imputed)	N
1511	chr12	121420806	121420807	rs1183910	23844046	Dorajoo R	2013-07-02	PLoS One	Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?	C-reactive protein	2,179 Chinese ancestry individuals, 2,275 Malay ancestry individuals, 2,238 Asian Indian ancestry individuals	NA	12q24.31	HNF1A	rs1183910-G	0.709	4E-12		0.054	[NR] unit increase	Illumina [up to 1745429] (imputed)	N
1511	chr12	121420806	121420807	rs1183910	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	12q24.31	HNF1A	rs1183910-G	NR	2E-124		0.149	[0.14-0.16] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1511	chr12	121420806	121420807	rs1183910	19567438	Elliott P	2009-07-01	JAMA	Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.	C-reactive protein	17,967 European ancestry and Indian Asian ancestry individuals	13,615 European ancestry and Indian Asian ancestry Individuals	12q24.31	HNF1A	rs1183910-T	NR	1E-30		13.8	[10.9-16.6] % decrease	Affymetrix, Illumina, Perlegen [~ 1400000] (imputed)	N
1511	chr12	121423955	121423956	rs2393791	24763700	Vinayagamoorthy N	2014-04-24	PLoS One	New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.	C-reactive protein levels	7,626 Korean ancestry individuals	903 Korean ancestry individuals	12q24.31	OASL, C12orf43, HNF1A	rs2393791-G	0.479	3E-10		0.122	[NR] unit decrease	Affymetrix [1219546] (imputed)	N
1511	chr12	121423955	121423956	rs2393791	22788528	Kong M	2012-07-13	Int J Immunogenet	Genetic associations with C-reactive protein level and white blood cell count in the KARE study.	C-reactive protein and white blood cell count	8,722 individuals	NA	12q24.31	HNF1A	rs2393791-C	0.478	3E-9	(CRP)	0.049	[NR] mg/dl decrease	Affymetrix [1701735] (imputed)	N
1511	chr12	121423955	121423956	rs2393791	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Gamma glutamyl transpeptidase	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	12q24.31	HNF1A	rs2393791-G	0.48	7E-30		0.0076	[0.0062-0.0090] IU/L increase	Affymetrix [~ 2200000] (imputed)	N
1511	chr12	121424860	121424861	rs7310409	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	12q24.31	HNF1A	rs7310409-A	0.386	6E-7		1.11	[1.06-1.15]	Illumina [866891] (imputed)	N
1511	chr12	121424860	121424861	rs7310409	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	12q24.31	C12orf27, HNF1A	rs7310409-G	0.59	7E-45		6.8	[5.70-7.80] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1511	chr12	121424860	121424861	rs7310409	21196492	Okada Y	2010-12-31	Hum Mol Genet	Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.	C-reactive protein	10,112 Japanese ancestry individuals	2,742 Japanese ancestry individuals	12q24.31	HNF1A	rs7310409-G	0.47	3E-8		0.07	[0.04-0.10] unit increase	Illumina [477784]	N
1511	chr12	121424860	121424861	rs7310409	18439548	Ridker PM	2008-04-24	Am J Hum Genet	Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.	C-reactive protein	6,345 European ancestry female individuals	NA	12q24.31	HNF1A	rs7310409-A	NR	7E-17		0.15	[NR] mg/dl decrease	Illumina [336108]	N
1511	chr12	121426900	121426901	rs12427353	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	12q24.31	HNF1A	rs12427353-G	0.77	4E-6		1.12	[1.07-1.18]	Affymetrix, Illumina [2500000] (imputed)	N
1511	chr12	121435586	121435587	rs2259816	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	12q24.31	OASL, C12orf43, HNF1A	rs2259816-T	0.379	3E-10	(HA women)	0.141	[0.092-0.190] unit increase	Affymetrix [up to 2203609] (imputed)	N
1511	chr12	121435586	121435587	rs2259816	19198612	Erdmann J	2009-02-08	Nat Genet	New susceptibility locus for coronary artery disease on chromosome 3q22.3.	Coronary heart disease	1,222 European ancestry cases, 1,298 European ancestry controls	18,185 European ancestry cases, 20,068 European ancestry controls	12q24.31	C12orf43, HNF1A	rs2259816-T	0.36	5E-7		1.08	[1.05-1.11]	Affymetrix [567119]	N
1511	chr12	121438843	121438844	rs735396	21203500	Lauc G	2010-12-23	PLoS Genet	Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation.	N-glycan levels	2,559 European ancestry individuals	NA	12q24.31	OASL, C12orf43, HNF1A	rs735396-G	0.38	4E-8	(DG11)	0.17	[0.11-0.23] unit increase	Illumina [~ 300000]	N
1511	chr12	121439432	121439433	rs1169310	18439552	Reiner AP	2008-04-24	Am J Hum Genet	Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.	C-reactive protein	909 European ancestry individuals	5,106 European ancestry individuals	12q24.31	HNF1A	rs1169310-A	0.38	2E-8		0.13	[0.08-0.17] mg/l decrease in log(CRP) level	Illumina [317000]	N
1511	chr12	121442669	121442670	rs1169313	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	12q24.31	C12orf43, C12orf27, HNF1A	rs1169313-C	0.38	2E-10	(GGT)	0.01	[0.003-0.007] U/L decrease	Affymetrix, Illumina [up to 496032]	N
1511	chr12	121443115	121443116	rs1169314	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	12q24.31	HNF1A	rs1169314-G	0.3	2E-8		0.037	[0.023-0.051] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1511	chr12	121450164	121450165	rs2264750	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	12q24.31	HNF1A	rs2264750-T	0.3	7E-11		0.042	[0.03-0.054] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1511	chr12	121460685	121460686	rs7957197	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	12q24.31	HNF1A	rs7957197-T		2E-8		1.07	[1.05-1.10]	Affymetrix, Illumina [2426886] (imputed)	N
1511	chr12	121471336	121471337	rs3213545	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	12q24.31	OASL	rs3213545-A	0.30	4E-15	(GGT)	0.121	[0.092-0.150] units/l decrease	Illumina [NR] (imputed)	N
1512	chr12	121622303	121622304	rs3751143	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	12q24.31	P2RX7	rs3751143-C	0.18	4E-6	(IL8)			Illumina [588352]	N
1515	chr12	121938184	121938185	rs10849893	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	12q24.31	FBXL10	rs10849893-?		2E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
1517	chr12	122276254	122276255	rs4298948	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q24.31	HPD	rs4298948-G	0.025	3E-6	(Vigorous activity )	0.04	[NR] %awake time increase	Illumina [899892]	N
1518	chr12	122342963	122342964	rs7314056	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	12q24.31	PSMD9	rs7314056-C	0.13	4E-16	(1.3625, 2-Hydroxyisobutyrate)	0.44	[NR] unit decrease	Illumina [713870] (imputed)	N
1518	chr12	122365582	122365583	rs7961894	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	12q24.31	TMEM120B, SETD1B, PSMD9, BCL7A, WDR66	rs7961894-T	0.89	6E-38		0.31	[NR] unit decrease	Illumina [476395]	N
1518	chr12	122365582	122365583	rs7961894	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	12q24.31	WDR66	rs7961894-C	NR	1E-10		3.923	[2.73-5.12] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1518	chr12	122365582	122365583	rs7961894	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	12q24.31	WDR66	rs7961894-T	NR	1E-103		0.03	[0.028-0.032] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1518	chr12	122365582	122365583	rs7961894	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	12q24.31	WDR66	rs7961894-T	NR	3E-44		0.03	[0.027-0.035] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1518	chr12	122365582	122365583	rs7961894	19110211	Meisinger C	2008-12-24	Am J Hum Genet	A genome-wide association study identifies three loci associated with mean platelet volume.	Mean platelet volume	1,606 European ancestry individuals	8,617 European ancestry individuals	12q24.31	WDR66	rs7961894-A	0.11	7E-48		0.03	[0.03-0.04] per log fl increase	Affymetrix [335152]	N
1518	chr12	122395776	122395777	rs830124	21572414	Suhre K	2011-05-15	Nat Genet	A genome-wide association study of metabolic traits in human urine.	Urinary metabolites	862 European ancestry male individuals	1,862 European ancestry individuals	12q24.31	WDR66, HPD	rs830124-A	0.152	1E-46	(2-Hydroxyisobutyrate concentration)			Affymetrix [645249]	N
1518	chr12	122397475	122397476	rs493519	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	12q24.31	WDR66	rs493519-T	0.13	1E-18	(2-hydroxyisobutyrate)	0.036	[0.028-0.044] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1519	chr12	122494808	122494809	rs11835818	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12q24.31	BCL7A	rs11835818-T	0.512	2E-13		0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1520	chr12	122625991	122625992	rs7953704	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	12q24.31	B3GNT4	rs7953704-A	0.47	3E-8	(network)	0.029	[0.019-0.039] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1520	chr12	122630908	122630909	rs1043763	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	12q24.31	MLXIP	rs1043763-T	0.574	7E-6	(Dominant model)	1.496	[1.248-1.795]	Illumina [733202]	N
1520	chr12	122645047	122645048	rs4319543	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	12q24.31	LRRC43	rs4319543-?	NR	1E-7	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
1521	chr12	122781896	122781897	rs11057405	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.31	CLIP1	rs11057405-G	0.902	2E-6	(EA, women)	0.033	[0.02-0.047] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1521	chr12	122781896	122781897	rs11057405	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.31	CLIP1	rs11057405-G	0.902	1E-8		0.03	[0.02-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1521	chr12	122781896	122781897	rs11057405	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.31	CLIP1	rs11057405-G	0.901	2E-8	(EA)	0.031	[0.02-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1522	chr12	122863658	122863659	rs61021925	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q24.31	NR	rs61021925-T	NR	2E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1524	chr12	123174742	123174743	rs601339	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	12q24.31	GPR109A	rs601339-G	0.19	4E-6		0.03	[0.018-0.042] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1525	chr12	123296293	123296294	rs12817488	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	12q24.31	CCDC62, HIP1R	rs12817488-T	0.41	3E-13		1.14	[1.10-1.18]	Illumina [7689524] (imputed)	N
1525	chr12	123303585	123303586	rs11060180	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	12q24.31	CCDC62	rs11060180-A	0.558	6E-12		1.105	[1.08-1.13]	Illumina [7893274] (imputed)	N
1526	chr12	123387921	123387922	rs10847980	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	12q24.31	GPR109A	rs10847980-T	0.771	7E-6		0.06	[0.040-0.080] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1526	chr12	123414348	123414349	rs2270788	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q24.31	NR	rs2270788-C	0.0991554951230425	7E-6	(IGP59)	0.2364	[0.13-0.34] unit increase	Illumina [~ 2500000] (imputed)	N
1526	chr12	123457618	123457619	rs7296418	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	12q24.31	ABCB9	rs7296418-?	NR	2E-6				Illumina [874956]	N
1527	chr12	123575741	123575742	rs1727307	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	12q24.31	PITPNM2	rs1727307-?	NR	3E-6				Illumina [874956]	N
1528	chr12	123640852	123640853	rs1727313	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	12q24.31	MPHOSPH9	rs1727313-C		1E-8		1.06	[1.04-1.08]	Affymetrix, Illumina [2500000] (imputed)	N
1528	chr12	123656724	123656725	rs1790100	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	12q24.31	MPHOSPH9	rs1790100-G	0.24	7E-7		1.11	[1.00-1.22]	Affymetrix, Illumina [~ 2560000] (imputed)	N
1528	chr12	123665112	123665113	rs2851447	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	12q24.31	ABCB9, ARL6IP4, C12orf65, CDK2AP1, MPHOSPH9, OGFOD2, PITPNM2, RILPL2, SBNO1, SETD8	rs2851447-G	0.259	2E-14		1.0928961	[1.07-1.12]	Affymetrix, Illumina [9005918] (imputed)	N
1528	chr12	123676762	123676763	rs2102949	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q24.31	NR	rs2102949-G	NR	2E-14		1.098901	[NR]	Illumina [7158791] (imputed)	N
1528	chr12	123731422	123731423	rs11532322	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	12q24.31	C12orf65, OGFOD2, RILPL2, MIR4304, SETD8, MPHOSPH9, SBNO1, ABCB9, ARL6IP4, PITPNM2, CDK2AP1	rs11532322-A	0.318	2E-8		1.094	[1.06-1.13]	Affymetrix, Illumina [9871789]	N
1529	chr12	123796237	123796238	rs4759375	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	12q24.31	SBNO1	rs4759375-T	0.08	3E-8		0.056	[NR] unit increase	NR [NR] (imputed)	N
1529	chr12	123796237	123796238	rs4759375	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	12q24.31	SBNO1	rs4759375-T	0.06	8E-9		0.86	[0.55-1.17] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1529	chr12	123822710	123822711	rs7980687	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12q24.31	SBNO1	rs7980687-A	0.205	1E-26		0.039	[0.031-0.047] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1529	chr12	123822710	123822711	rs7980687	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	12q24.31	SBNO1, SETD8, RILPL2, C12orf65, MPHOSPH9, SNRNP35, RILPL1, PITPNM2, TMED2	rs7980687-A	0.2	7E-8		0.029	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1529	chr12	123822710	123822711	rs7980687	22504419	Taal HR	2012-04-15	Nat Genet	Common variants at 12q15 and 12q24 are associated with infant head circumference.	Head circumference (infant)	10,768 European ancestry infants	8,321 European ancestry infants	12q24.31	SBNO1	rs7980687-A	0.20	8E-9		0.074	[0.049-0.099] SD increase	Affymetrix, Illumina [~ 2400000] (imputed)	N
1529	chr12	123823545	123823546	rs11830103	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	12q24.31	SBNO1	rs11830103-A	0.78	4E-15		0.035	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1531	chr12	124085501	124085502	rs786425	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	12q24.31	DDX55	rs786425-G	0.4	3E-6	(Single Height)	0.06	[0.038-0.082] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1532	chr12	124203831	124203832	rs6488898	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	12q24.31	DNAH10, GPR109A, ATP6V0A2	rs6488898-G	NR	3E-10		0.053	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1533	chr12	124316875	124316876	rs7978454	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q24.31	NR	rs7978454-G	0.409630410507569	7E-6	(IGP15)	0.1473	[0.083-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
1533	chr12	124375209	124375210	rs10773046	23989986	Evangelou E	2013-08-29	Ann Rheum Dis	A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.	Osteoarthritis (hip)	up to 4,734 European ancestry cases, up to 46,903 European ancestry controls	up to 6,928 European ancestry cases, up to 20,570 European ancestry controls	12q24.31	DNAH10	rs10773046-G	0.45	2E-6		1.07	[1.03-1.11]	Illumina [2567279] (imputed)	N
1534	chr12	124399549	124399550	rs1316952	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12q24.31	DNAH10	rs1316952-T	0.87	9E-7	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1534	chr12	124399549	124399550	rs1316952	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12q24.31	DNAH10	rs1316952-T	0.87	1E-7	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1534	chr12	124399549	124399550	rs1316952	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12q24.31	DNAH10	rs1316952-T	0.87	5E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1534	chr12	124440109	124440110	rs4765219	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q24.31	CCDC92	rs4765219-C	0.6701	2E-16		0.0286	[0.022-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1534	chr12	124440109	124440110	rs4765219	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q24.31	CCDC92	rs4765219-C	0.668	2E-15	(EA)	0.0284	[0.021-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1534	chr12	124440109	124440110	rs4765219	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q24.31	CCDC92	rs4765219-C	0.6677	4E-15	(women)	0.0364	[0.027-0.045] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1534	chr12	124440109	124440110	rs4765219	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q24.31	CCDC92	rs4765219-C	0.6665	1E-14	(EA, women)	0.0366	[0.027-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1534	chr12	124460166	124460167	rs4765127	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	12q24.31	ZNF664	rs4765127-T	0.35	2E-8		0.029	[NR] mg/dL decrease	NR [NR] (imputed)	N
1534	chr12	124460166	124460167	rs4765127	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	12q24.31	ZNF664	rs4765127-T	0.35	8E-10		0.032	[NR] unit increase	NR [NR] (imputed)	N
1534	chr12	124460166	124460167	rs4765127	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	12q24.31	CCDC92, ZNF664	rs4765127-G	0.34	1E-8		2.42	[1.62-3.22] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1534	chr12	124460166	124460167	rs4765127	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	12q24.31	CCDC92, ZNF664	rs4765127-T	0.34	3E-10		0.44	[0.28-0.6] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1534	chr12	124480800	124480801	rs34102591	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q24.31	NR	rs34102591-G	NR	3E-7		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1534	chr12	124491528	124491529	rs1187415	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	12q24.31	ZNF664	rs1187415-C	0.920	2E-7		0.11	[0.071-0.149] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1534	chr12	124499541	124499542	rs1048497	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12q24.31	ZNF664	rs1048497-G	0.83	7E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1534	chr12	124499541	124499542	rs1048497	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	12q24.31	ZNF664	rs1048497-G	0.83	9E-6	(Overall)			Affymetrix, Illumina [2500000] (imputed)	N
1534	chr12	124505443	124505444	rs863750	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q24.31	ZNF664	rs863750-T	0.5938	7E-15	(EA, women)	0.0353	[0.026-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1534	chr12	124505443	124505444	rs863750	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q24.31	ZNF664	rs863750-T	0.5932	7E-14	(EA)	0.0258	[0.019-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1534	chr12	124505443	124505444	rs863750	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q24.31	ZNF664	rs863750-T	0.587	6E-14	(women)	0.0333	[0.025-0.042] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1534	chr12	124505443	124505444	rs863750	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	12q24.31	ZNF664	rs863750-T	0.5868	2E-13		0.0245	[0.018-0.031] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1534	chr12	124506630	124506631	rs10773049	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.31	ZNF664-FAM101A	rs10773049-C	0.405	3E-6		0.014	[0.008-0.0198] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1534	chr12	124506630	124506631	rs10773049	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.31	ZNF664-FAM101A	rs10773049-C	0.4	6E-6	(EA)	0.014	[0.008-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1535	chr12	124519845	124519846	rs1716403	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	12q24.31	intergenic	rs1716403-?	NR	2E-6	(Baseline)	0.14	[0.081-0.199] ng/dL decrease	Affymetrix [2543887] (imputed)	N
1535	chr12	124614537	124614538	rs7969148	24667120	Zhang TX	2014-03-25	J Med Genet	Genome-wide association study identifies new disease loci for isolated clubfoot.	Clubfoot	396 European ancestry cases, 1,000 European ancestry controls	370 European ancestry cases, 363 European ancestry controls	12q24.31	ZNF664, NCOR2	rs7969148-?	0.1474	2E-7		1.58	[NR]	Affymetrix [620820] (imputed)	N
1536	chr12	124662130	124662131	rs10846617	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	12q24.31	FAM101A	rs10846617-C	0.44	7E-10		0.014	[0.010-0.018] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1536	chr12	124662130	124662131	rs10846617	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	12q24.31	FAM101A	rs10846617-C	0.44	2E-7	(EA)	0.014	[0.0081-0.0199] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1537	chr12	124801225	124801226	rs1809889	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	12q24.31	FAM101A	rs1809889-T	0.289	4E-21		0.032	[0.026-0.038] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1537	chr12	124894183	124894184	rs12582168	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)	294 Japanese ancestry cases, 2,249 Japanese ancestry controls	NA	12q24.31	NCOR2	rs12582168-C	0.256	9E-6	(Dominant model)	1.454	[1.21-1.748]	Illumina [733202]	N
1538	chr12	125002322	125002323	rs150954431	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	12q24.31	NCOR2	rs150954431-?	NR	5E-7	(Symptom count, EA)			Illumina [37426733] (imputed)	N
1538	chr12	125033932	125033933	rs12423712	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	12q24.31	NCOR2	rs12423712-?	0.05907	7E-6	(RVP)			Illumina [475971]	N
1540	chr12	125261592	125261593	rs838880	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	12q24.31	SCARB1	rs838880-C	0.34	6E-32		0.048	[NR] unit increase	NR [NR] (imputed)	N
1540	chr12	125261592	125261593	rs838880	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	12q24.31	SCARB1	rs838880-C	0.31	3E-14		0.61	[0.43-0.79] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1540	chr12	125264286	125264287	rs838886	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	12q24.31	SCARB1	rs838886-T	0.35	2E-18		0.058	[0.044-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1541	chr12	125307052	125307053	rs11057830	21729881	Major JM	2011-07-05	Hum Mol Genet	Genome-wide association study identifies common variants associated with circulating vitamin E levels.	Vitamin E levels	2,402 European ancestry cases, 1612 European ancestry controls	475 European ancestry cases, 517 European ancestry controls, 1,416 cases, 1,359 controls	12q24.31	SCARB1	rs11057830-A	0.15	8E-9		0.03	[0.01-0.05] unit increase	Illumina [NR]	N
1541	chr12	125312424	125312425	rs10846744	20442857	Suchindran S	2010-04-29	PLoS Genet	Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.	Lipoprotein-associated phospholipase A2 activity and mass	6,668 European ancestry individuals	NA	12q24.31	SCARB1	rs10846744-C	0.15	1E-8	(activity)	4.6	[NR] nmol/ml/min increase	Affymetrix [360811]	N
1541	chr12	125316742	125316743	rs11057841	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity and mass	6,851 European ancestry individuals	13,664 European ancestry individuals	12q24.31	SCARB1	rs11057841-T	0.15	6E-14	(activity)	0.0286	[0.019-0.038] ng/ml increase	Illumina [796174]	N
1541	chr12	125320849	125320850	rs4765623	21131975	Purdue MP	2010-12-05	Nat Genet	Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.	Renal cell carcinoma	3,772 European ancestry cases, 8,505 European ancestry controls	2,198 European ancestry cases, 4,918 European ancestry controls	12q24.31	SCARB1	rs4765623-?	0.34	3E-8		1.15	[1.09-1.20]	Illumina [586069]	N
1542	chr12	125546574	125546575	rs12300899	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	12q24.31	NR	rs12300899-?	NR	5E-7				NR [up to 8466825] (imputed)	N
1545	chr12	125875465	125875466	rs1147246	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	12q24.31	TMEM132B	rs1147246-?		2E-6				Illumina [859311]	N
1547	chr12	126143345	126143346	rs1043607	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	12q24.32	TMEM132B	rs1043607-?	NR	4E-6				NR [up to 8466825] (imputed)	N
1551	chr12	126734268	126734269	rs7137521	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12q24.32	TMEM132B, LOC728173	rs7137521-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1553	chr12	127007869	127007884	rs141337143	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12q24.32	intergenic	rs141337143-A	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
1555	chr12	127248384	127248385	rs12306296	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	12q24.32	NR	rs12306296-G	NR	4E-6	(phenotype 3)	1.67	[NR]	Illumina [> 8000000] (imputed)	N
1559	chr12	127792613	127792614	rs1823172	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	12q24.32	intergenic	rs1823172-?	0.08	5E-7	(Additive)	1.17	[1.10-1.25]	Affymetrix [319222]	N
1560	chr12	127813740	127813741	rs10744304	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	12q24.32	intergenic	rs10744304-A	0.63	9E-6		0.15	[NR] unit decrease	Affymetrix, Illumina [up to 2500000] (imputed)	N
1560	chr12	127826107	127826108	rs11835432	25352737	Ritchie MD	2014-09-19	Mol Vis	Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.	Age-related cataracts (age at onset)	5,503 European, Black, and other ancestry cases age 50 and older	NA	12q24.32	LOC100132564, LOC644489	rs11835432-T	0.1937	8E-6		0.6667	[NR] unit increase	Illumina [530101]	N
1562	chr12	128075011	128075012	rs12812736	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	12q24.32	intergenic	rs12812736-T	0.14	4E-6		0.55	[0.31-0.79] unit decrease	Illumina [NR] (imputed)	N
1563	chr12	128304417	128304418	rs11059374	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	12q24.32	intergenic	rs11059374-?	NR	2E-6	(SF5)			Affymetrix [5476100] (imputed)	N
1565	chr12	128501011	128501012	rs12809497	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	12q24.32	intergenic	rs12809497-C	0.4449	4E-6		2.09	[1.78-2.40]	Illumina [8809853] (imputed)	N
1565	chr12	128506200	128506201	rs4761053	25827505	Swaminathan S	2015-03-14	J Affect Disord	Characteristics of Bipolar I patients grouped by externalizing disorders.	Bipolar disorder	472 non-externalizing cases, 796 externalizing cases	436 non-externalizing European ancestry cases, 801 externalizing European ancestry cases	12q24.32	intergenic	rs4761053-?		7E-6	(early-onset vs. non-externalizing)	1.525	[NR]	Affymetrix [677171]	N
1567	chr12	128736521	128736522	rs12297524	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		12q24.32	SLC15A4	rs12297524-T	NR	5E-6		0.1258	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1567	chr12	128782021	128782022	rs11059635	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)	57 Japanese ancestry cases, 63 Japanese ancestry controls	NA	12q24.32	TMEM132C	rs11059635-G	0.67	2E-7	(Dominant)	6.63	[2.95-14.9]	Illumina [555600]	N
1569	chr12	129095071	129095072	rs7296262	21423239	Willour VL	2011-03-25	Mol Psychiatry	A genome-wide association study of attempted suicide.	Suicide attempts in bipolar disorder	1,201 European and unknown ancestry attempters, 1,497 European and unknown ancestry non-attempters	1,295 attempters, 1,822 non-attempters	12q24.32	TMEM132C	rs7296262-T	0.51	1E-6		1.22	[NR]	Affymetrix, Illumina [2408051] (imputed)	N
1570	chr12	129186189	129186190	rs10773568	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	12q24.33	TMEM132C	rs10773568-A	0.42	3E-6		0.074	[0.043-0.105] unit increase	Affymetrix [1532051] (imputed)	N
1571	chr12	129300693	129300694	rs1385374	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	12q24.33	SLC15A4	rs1385374-A	0.17	8E-8		1.41		Illumina [2100739] (imputed)	N
1571	chr12	129300693	129300694	rs1385374	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	12q24.33	SLC15A4	rs1385374-A	0.20	2E-11		1.26	[1.18-1.35]	Illumina [493955]	N
1571	chr12	129324937	129324938	rs10744391	22044751	Foster MC	2011-11-01	BMC Med Genet	Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.	Renal sinus fat	2,809 European ancestry individuals	NA	12q24.33	GLT1D1	rs10744391-A	0.29	1E-6		0.224	[0.13-0.31] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1572	chr12	129462702	129462703	rs517020	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	12q24.33	GLT1D1	rs517020-?	NR	7E-7	(Additive model)	0.43	unit decrease	Illumina [542562]	N
1572	chr12	129475938	129475939	rs643473	22773346	Edwards DR	2012-07-07	Age (Dordr)	Linkage and association of successful aging to the 6q25 region in large Amish kindreds.	Aging	263 Amish individuals aged 80 years or older	NA	12q24.33	LOC100129252, NLRP9P	rs643473-?	0.40	9E-6				Affymetrix [630309]	N
1573	chr12	129561355	129561356	rs12369635	25781172	Avramopoulos D	2015-03-17	PLoS One	Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.	Schizophrenia (inflammation and infection response interaction)	460 Ashkenazi Jewish schizophrenia cases, 241  Ashkenazi Jewish controls	NA	12q24.33	TMEM132D, GLT1D1	rs12369635-?		8E-6	(anti-HSV1)			Affymetrix [516638]	N
1574	chr12	129637347	129637348	rs12824981	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	Heart rate	455 African American individuals	NA	12q24.33	TMEM132D	rs12824981-T		9E-6		4.56	[NR] ms increase	Illumina [> 930000]	N
1574	chr12	129646571	129646572	rs12580240	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q24.33	NR	rs12580240-G	0.0139850911701364	2E-6	(IGP25)	0.895	[0.53-1.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1574	chr12	129646600	129646601	rs12580533	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	12q24.33	NR	rs12580533-C	0.014010396137832	8E-6	(IGP33)	0.8247	[0.46-1.19] unit increase	Illumina [~ 2500000] (imputed)	N
1575	chr12	129818245	129818246	rs1482292	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	12q24.33	NR	rs1482292-C	NR	2E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1576	chr12	130022702	130022703	rs2170820	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	12q24.33	TMEM132D	rs2170820-C		5E-6	(EA, factor score analysis)	0.063	[NR] unit decrease	Affymetrix [up to 730090]	N
1577	chr12	130117148	130117149	rs79946301	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12q24.33	intergenic	rs79946301-A	0.005	6E-6		7.81	[2.74-22.24]	Illumina [1556551]	N
1578	chr12	130230406	130230407	rs7979367	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	12q24.33	NR	rs7979367-C	0.402	2E-6		9.215	[NR] unit decrease	Illumina [527829]	N
1578	chr12	130230406	130230407	rs7979367	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	12q24.33	NR	rs7979367-C	0.402	6E-6	(Illicit drug use)			Illumina [527829]	N
1580	chr12	130466630	130466631	rs76582905	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	12q24.33	intergenic	rs76582905-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1580	chr12	130497471	130497472	rs1624802	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q24.33	TMEM132D	rs1624802-A	0.49	5E-7	(Ft4 )	0.02	[NR] ng/dL increase	Illumina [899892]	N
1581	chr12	130630934	130630935	rs11060736	22780124	Lind PA	2012-07-11	Addict Biol	Genome-wide association study of a quantitative disordered gambling trait.	Gambling	1,312 European ancestry twins from 894 families	NA	12q24.33	FZD10, intergenic, FLJ31485	rs11060736-T	0.941	4E-6		0.285	[0.16-0.41] unit decrease	Illumina [2373249] (imputed)	N
1581	chr12	130642230	130642231	rs75751297	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	12q24.33	FLJ31485	rs75751297-A	NR	7E-7	(Perc15, All)	2.4	[1.46-3.34] unit increase	Illumina [7600000] (imputed)	N
1583	chr12	130921663	130921664	rs2292664	25918517	Yashin AI	2015-04-13	Front Genet	Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.	Lifespan	679 female individuals	432 male individuals	12q24.33	RIMBP2	rs2292664-?	0.081	1E-8	(females)	5.828	[NR] unit decrease	Affymetrix [429783]	N
1584	chr12	131022009	131022010	rs1464108	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	12q24.33	RIMBP2	rs1464108-?	0.32	8E-6		1.28	[NR]	Illumina [1847262] (imputed)	N
1586	chr12	131291100	131291101	rs7301826	24578379	Huang J	2014-02-27	Arterioscler Thromb Vasc Biol	Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.	Plasma plasminogen activator levels	26,217 European ancestry individuals, 712 Orcadian individuals	4,487 European ancestry individuals	12q24.33	STX2	rs7301826-C	0.43	1E-9		0.027	[0.019-0.035] unit increase	Affymetrix, Illumina [2455857] (imputed)	N
1587	chr12	131352561	131352562	rs7304057	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	12q24.33	intergenic	rs7304057-?	NR	4E-6	(SF6)			Affymetrix [5476100] (imputed)	N
1587	chr12	131390753	131390754	rs7299940	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	12q24.33	intergenic	rs7299940-?	0.29	7E-6				Affymetrix [253903]	N
1587	chr12	131456448	131456449	rs11061269	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	12q24.33	GPR133	rs11061269-?	0.08	8E-10		3.7761	[2.49-5.74]	Illumina [859311]	N
1588	chr12	131525052	131525053	rs3847687	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	12q24.33	GPR133	rs3847687-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1588	chr12	131576190	131576191	rs1569019	19729412	Tonjes A	2009-09-03	Hum Mol Genet	Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs.	Height	929 Sorbian individuals	5,758 European ancestry individuals	12q24.33	GPR133	rs1569019-?	NR	5E-8		0.95	[0.61-1.29] cm increase	Affymetrix [390619]	N
1589	chr12	131621761	131621762	rs885389	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	12q24.33	GPR133	rs885389-A	0.30	4E-8		0.17	[0.11-0.23] unit decrease	Illumina [~ 318327]	N
1589	chr12	131638852	131638853	rs7485210	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	12q24.33	LOC116437	rs7485210-?	NR	3E-6	(% Change in score)	0.14	[NR] unit increase	Illumina [~ 7000000] (imputed)	N
1591	chr12	131862902	131862903	rs7965445	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	12q24.33	LOC338797	rs7965445-A	0.098	2E-6	(EA)	1.3	[0.99-1.72]	Affymetrix [up to 2366858] (imputed)	N
1591	chr12	131939919	131939920	rs10466868	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	12q24.33	GPR133	rs10466868-?	0.12	1E-6	(Erythropoeitin)			Illumina [496032]	N
1592	chr12	132014205	132014206	rs10773920	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	12q24.33	intergenic	rs10773920-C	0.477	8E-6	(WC )	0.03	[NR] cm increase	Illumina [899892]	N
1592	chr12	132085195	132085196	rs7315621	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	12q24.33	AC117500.2	rs7315621-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1594	chr12	132325238	132325239	rs6598163	22683712	Freilinger T	2012-06-10	Nat Genet	Genome-wide association analysis identifies susceptibility loci for migraine without aura.	Migraine	2,326 European ancestry cases, 4,580 European ancestry controls	2,508 European ancestry cases, 2,652 European ancestry controls	12q24.33	MMP17	rs6598163-G	0.48	5E-7		1.15	[1.09-1.21]	Illumina [1246388] (imputed)	N
1596	chr12	132601595	132601596	rs12422267	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	12q24.33	EP400NL	rs12422267-G	0.095	2E-6		0.17	[0.11-0.23] unit increase	Illumina [2316178] (imputed)	N
1597	chr12	132701183	132701184	rs11247009	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.33	GALNT9	rs11247009-A	0.184	3E-6	(EA)	0.025	[0.014-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1597	chr12	132701183	132701184	rs11247009	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.33	GALNT9	rs11247009-A	0.184	3E-6		0.024	[0.014-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1597	chr12	132701183	132701184	rs11247009	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	12q24.33	GALNT9	rs11247009-A	0.182	4E-6	(EA, women)	0.03	[0.017-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1601	chr12	133226830	133226831	rs5744897	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	12q24.33	POLE	rs5744897-C	0.9	4E-6		0.087	[0.05-0.124] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1602	chr12	133345808	133345809	rs12282	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	12q24.33	ANKLE2, GOLGA3	rs12282-?		3E-7	(Hispanic)			Illumina [NR]	N
1602	chr12	133417801	133417802	rs3741489	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	12q24.33	CHFR	rs3741489-C	0.005	2E-6	(3MSE)	13.9397	[8.26-19.61] unit decrease	Affymetrix [> 371951] (imputed)	N
732	chr13	19311240	19311241	rs9552416	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	13q11	TUBA3C	rs9552416-?		3E-24				Affymetrix, Illumina [~ 2400000] (imputed)	N
743	chr13	20736215	20736216	rs6490525	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	13q12.11	intergenic	rs6490525-?	NR	4E-6				NR [~ 2000000]	N
745	chr13	21050574	21050575	rs7989332	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	261 Japanese ancestry cases, 262 Japanese ancestry controls	NA	13q12.11	CRYL1	rs7989332-G	0.738	5E-6	(Allelic model)	2.056	[1.507-2.806]	Illumina [733202]	N
745	chr13	21093603	21093604	rs4770049	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q12.11	CRYL1	rs4770049-G	0.061	5E-6	(BMI z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
746	chr13	21131210	21131211	rs9506514	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	13q12.11	IFT88	rs9506514-A	0.53	5E-6	(AA)	0.17	[0.092-0.248] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
746	chr13	21209511	21209512	rs7326068	20713499	Huang J	2010-08-16	Am J Psychiatry	Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.	Schizophrenia, bipolar disorder and depression (combined)	402 European ancestry schizophrenia cases, 1,021 European ancestry bipolar I cases, 493 European ancestry bipolar II cases, 1,210 European ancestry MDD cases, 1,060 European ancestry controls	NA	13q12.11	IFT88	rs7326068-A	0.19	3E-6				Affymetrix, Perlegen [1574154] (imputed)	N
747	chr13	21280033	21280034	rs735539	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	13q12.11	IFT88	rs735539-?	NR	4E-6	(DMFS2)			Illumina [518997]	N
747	chr13	21300908	21300909	rs2253017	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	PR segment	16,468 European ancestry individuals	NA	13q12.11	IL17D, N6AMT2	rs2253017-T	0.15	2E-8		1.58	[1.03-2.13] unit increase	Illumina [2300000] (imputed)	N
751	chr13	21815868	21815869	rs17064136	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q12.11	ESRRAP2	rs17064136-A	0.037	4E-6	(C-peptide )	0.04	[NR] ng/mL increase	Illumina [899892]	N
751	chr13	21870113	21870114	rs155076	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	13q12.11	ZDHHC20	rs155076-G	0.19	4E-7	(Hispanic)			Affymetrix, Illumina [14227402] (imputed)	N
751	chr13	21876095	21876096	rs9788333	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	13q12.11	ZDHHC20	rs9788333-G	0.11	4E-6	(AA-triglyceride response)	28.65	[16.46-40.84] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
752	chr13	21915113	21915114	rs17356983	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q12.11	intergenic	rs17356983-G	0.158	2E-6	(Hcy )	0.03	[NR] umol/L increase	Illumina [899892]	N
752	chr13	21962206	21962207	rs9316337	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q12.11	NR	rs9316337-G	NR	2E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
753	chr13	22131896	22131897	rs2798269	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	PR segment	16,468 European ancestry individuals	NA	13q12.11	EFHA1	rs2798269-T	0.399	3E-10		1.382	[0.95-1.81] unit decrease	Illumina [2300000] (imputed)	N
755	chr13	22305098	22305099	rs518590	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	13q12.11	intergenic	rs518590-?	0.21	2E-7	(quetiapine-HDL)			Affymetrix [492900]	N
756	chr13	22487624	22487625	rs17369571	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	13q12.11	FGF3	rs17369571-?	0.16	1E-7	(IL1RA)			Illumina [496032]	N
757	chr13	22620206	22620207	rs7999075	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	13q12.11	FGF9	rs7999075-?		1E-6				Illumina [859311]	N
758	chr13	22709669	22709670	rs7318731	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	13q12.11	intergenic	rs7318731-A	0.48	1E-6		0.14	[0.08-0.20] unit decrease	Illumina [~ 318327]	N
758	chr13	22729204	22729205	rs9578438	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	13q12.11	intergenic	rs9578438-T	0.0393	1E-6	(Case/control)	1.2374	[0.74-1.73] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
758	chr13	22754092	22754093	rs9580312	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)	294 Japanese ancestry cases, 2,249 Japanese ancestry controls	NA	13q12.11	LOC100506622	rs9580312-G	0.409	8E-6	(Dominant model)	1.33	[1.12-1.581]	Illumina [733202]	N
762	chr13	23228690	23228691	rs1034200	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	13q12.12	SGCG, FGF9	rs1034200-A	0.23	4E-9		0.1	[0.061-0.139] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
762	chr13	23228690	23228691	rs1034200	20719862	Vitart V	2010-08-18	Hum Mol Genet	New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.	Central corneal thickness	1,445 European ancestry individuals	5,882 European ancestry individuals	13q12.12	AVGR8, AL354828.1	rs1034200-C	0.22	4E-9		0.14	[0.10-0.19] unit decrease	Illumina [~ 2000000] (imputed)	N
762	chr13	23294032	23294033	rs373767	22685421	Fan Q	2012-06-07	PLoS Genet	Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.	Myopia (pathological)	2,789 Chinese ancestry individuals, 2,155 Malay ancestry individuals	NA	13q12.12	ZC3H11B	rs4373767-C	0.30	3E-10		0.16	[0.12-0.20] mm decrease	Illumina [456634]	N
763	chr13	23412588	23412589	rs9506942	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Smoking cessation in chronic obstructive pulmonary disease	1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases	NA	13q12.12	intergenic	rs9506942-C	0.57	6E-6		1.29		Illumina [~ 6300000] (imputed)	N
763	chr13	23412922	23412923	rs9552733	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Smoking cessation in chronic obstructive pulmonary disease	1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases	NA	13q12.12	intergenic	rs9552733-G	0.57	6E-6		1.29		Illumina [~ 6300000] (imputed)	N
765	chr13	23692977	23692978	rs4770394	21738484	Smith EN	2011-06-30	PLoS Genet	Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.	Bipolar disorder	1,190 European and unknown ancestry cases, 401 European and unknown ancestry controls	16,179 individuals	13q12.12	SGCG	rs4770394-A	NR	9E-6		1.59	[NR]	Affymetrix [703019]	N
766	chr13	23744378	23744379	rs9507041	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	13q12.12	intergenic	rs9507041-?	NR	8E-6		1.55	[1.28-1.88]	Illumina [948142]	N
766	chr13	23755126	23755127	rs4770403	22004471	Frank J	2011-10-18	Addict Biol	Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.	Alcohol dependence	1,333 European ancestry male cases, 2,168 European ancestry male controls	NA	13q12.12	NR	rs4770403-?	NR	6E-6		1.33	[1.17-1.50]	Illumina [463044]	N
766	chr13	23851798	23851799	rs9510661	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	13q12.12	NR	rs9510661-C	NR	6E-6		0.39	[0.21-0.57] unit decrease	NR [5896100] (imputed)	N
767	chr13	23864656	23864657	rs9552911	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	13q12.12	SGCG, SACS	rs9552911-G	0.93	2E-8	(Punjabi Sikhs)	1.49	[1.3-1.72]	Illumina [1232008] (imputed)	N
767	chr13	23903790	23903791	rs4770433	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	13q12.12	SACS	rs4770433-?	0.40	4E-6	(IL12)			Illumina [496032]	N
768	chr13	24042509	24042510	rs10162002	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	13q12.12	TNFRSF19, SACS	rs10162002-A	0.149	5E-6		1.233	[1.13-1.35]	Illumina [870065]	N
768	chr13	24044343	24044344	rs2297585	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	13q12.12	TNFRSF19, SACS	rs2297585-?	NR	4E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
769	chr13	24127209	24127210	rs1572072	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	13q12.12	TNFRSF19	rs1572072-?	0.74	1E-8		1.19	[1.11-1.27]	Illumina [464328]	N
769	chr13	24205194	24205195	rs9510787	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	13q12.12	TNFRSF19	rs9510787-G	0.37	2E-9		1.2	[1.10-1.30]	Illumina [464328]	N
770	chr13	24293858	24293859	rs753955	21725308	Hu Z	2011-07-03	Nat Genet	A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.	Lung cancer	2,331 Han Chinese ancestry cases, 3,077 Han Chinese ancestry controls	6,313 Han Chinese ancestry cases, 6,409 Han Chinese ancestry controls	13q12.12	MIPEP	rs753955-G	0.29	2E-12		1.18	[1.13-1.24]	Affymetrix [906703]	N
770	chr13	24296861	24296862	rs7324557	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	13q12.12	TNFRSF19, MIPEP	rs7324557-G	0.65	8E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
771	chr13	24421775	24421776	rs76248362	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	13q12.12	NR	rs76248362-?	NR	5E-6	(AA)	1.3521	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
771	chr13	24431808	24431809	rs74657221	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	13q12.12	NR	rs74657221-?	NR	1E-7	(AA)	1.4229	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
771	chr13	24432466	24432467	rs9318086	21640322	Shi Y	2011-06-02	Am J Hum Genet	Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.	Myopia (pathological)	419 Han Chinese ancestry high myopia cases, 669 Han Chinese ancestry controls	2,803 East Asian ancestry high myopia cases, 5,642 East Asian ancestry controls	13q12.12	MIPEP, C1QTNF9B-AS1, C1QTNF9B	rs9318086-A	0.44	2E-16		1.32	[1.19-1.46]	Illumina [493947]	N
771	chr13	24504954	24504955	rs2765086	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Weight	Up to 3,925 European individuals	NA	13q12.12	NR	rs2765086-G	0.94	6E-6	(females)	3.86	[NR] kg decrease	Illumina [318237]	N
772	chr13	24598383	24598384	rs17079773	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	13q12.12	intergenic	rs17079773-?	NR	5E-6	(binary)			Perlegen [429981]	N
773	chr13	24654227	24654228	rs17079928	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	13q12.12	SPATA13	rs17079928-?	0.82	6E-6	(CL_CLP)	1.33	[1.52-1.18]	Illumina [NR]	N
773	chr13	24658355	24658356	rs9805786	22064162	Edwards AC	2011-11-05	Psychiatr Genet	Genome-wide association study of comorbid depressive syndrome and alcohol dependence.	Depression and alcohol dependence	467 European ancestry cases, 407 European ancestry controls	NA	13q12.12	SPATA13	rs9805786-?	NR	7E-6		1.65	[1.33-2.05]	Illumina [876476]	N
774	chr13	24795488	24795489	rs715921	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	13q12.12	SPATA13	rs715921-A	0.31	8E-7	(No asthma)	1.2	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
775	chr13	24980948	24980949	rs1816752	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q12.12	PARP4	rs1816752-G	0.332	2E-6	(Urinary free norepinephrine )	0.05	[NR] nmol/d increase	Illumina [899892]	N
776	chr13	25082629	25082630	rs9581094	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	13q12.12	PARP4	rs9581094-?	0.15	7E-7	(Recessive)	1.7	[1.38-2.10]	Affymetrix [319222]	N
777	chr13	25247285	25247286	rs1530530	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q12.12	ATP12A	rs1530530-G	0.068	6E-7	(Testosterone )	0.03	[NR] ng/mL increase	Illumina [899892]	N
779	chr13	25533830	25533831	rs2483374	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q12.13	TPTE2P1	rs2483374-C	0.386	5E-6	(Amylin )	0.03	[NR] pM increase	Illumina [899892]	N
783	chr13	26007976	26007977	rs7322916	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders	543 European ancestry female cases, 1,116 European ancestry female controls	NA	13q12.13	ATP8A2	rs7322916-G	0.501	8E-7		0.089	[0.054-0.124] unit increase	Illumina [6150213] (imputed)	N
783	chr13	26037959	26037960	rs4770837	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	13q12.13	NR	rs4770837-?	NR	5E-6		1.246	[NR]	Affymetrix [722112]	N
788	chr13	26724327	26724328	rs17511627	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	13q12.13	intergenic	rs17511627-C	0.17	5E-6		1.75	[1.37-2.22]	Illumina [2505093] (imputed)	N
788	chr13	26731713	26731714	rs4769475	25628645	Tong Y	2015-01-13	Front Genet	Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs).	Response to Homoharringtonine (cytotoxicity)	93 African-American ancestry lymphoblastoid cell lines, 91 European ancestry lymphoblastoid cell lines, 94 Han Chinese ancestry lymphoblastoid cell lines	NA	13q12.13	intergenic	rs4769475-?		6E-6				Affymetrix, Illumina [6750581] (imputed)	N
789	chr13	26759883	26759884	rs509915	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	13q12.13	RNF6	rs509915-C	0.07	3E-6	(Women)	0.02165882	[0.013-0.031] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
789	chr13	26781527	26781528	rs10507349	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	13q12.13	RNF6	rs10507349-G		2E-7		1.06	[1.04-1.08]	Affymetrix, Illumina [2500000] (imputed)	N
790	chr13	26911111	26911112	rs17083838	26029870	Ye Z	2015-06-01	Nat Genet	Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma.	Sporadic pituitary adenoma	771 Han Chinese cases, 2,788 Han Chinese controls	2,542 Han Chinese cases, 3,620 Han Chinese controls	13q12.13	CDK8, RNF6, WASF3	rs17083838-A	0.104	2E-8		1.37	[1.23-1.53]	Illumina [720770]	N
790	chr13	26923564	26923565	rs3736995	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	13q12.13	CDK8	rs3736995-?		3E-7	(IFN gamma response)			Illumina [NR]	N
794	chr13	27415672	27415673	rs9319321	19187332	Kim SH	2009-02-01	Clin Exp Allergy	Alpha-T-catenin (CTNNA3) gene was identified as a risk variant for toluene diisocyanate-induced asthma by genome-wide association analysis.	Asthma (toluene diisocyanate-induced)	84 Korean ancestry cases, 263 Korean ancestry controls	NA	13q12.13	intergenic	rs9319321-T	0.29	3E-6		5.2	[2.47-10.92]	Affymetrix [312978]	N
795	chr13	27528346	27528347	rs12585310	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q12.13	NR	rs12585310-?	NR	5E-11	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
795	chr13	27531266	27531267	rs17085007	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q12.13	NR	rs17085007-G	0.1799	1E-16	(EA)	1.1413064	[1.11-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
795	chr13	27531266	27531267	rs17085007	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	810 Korean ancestry cases, 1709 Korean ancestry controls	13q12.13	intergenic	rs17085007-C	0.17	3E-7		1.37	[1.22-1.55]	Illumina [581060]	N
795	chr13	27531266	27531267	rs17085007	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	13q12.13	Intergernic	rs17085007-C	0.18	8E-6		1.4	[1.21-1.63]	Illumina [581060]	N
795	chr13	27531266	27531267	rs17085007	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	13q12.13	intergenic	rs17085007-C	0.183	3E-19		1.106	[1.065-1.147]	Affymetrix, Illumina [1230000] (imputed)	N
795	chr13	27531266	27531267	rs17085007	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	13q12.13	intergenic	rs17085007-C	0.18	1E-16		1.16	[1.10-1.21]	Affymetrix, Illumina [~ 1100000] (imputed)	N
795	chr13	27531266	27531267	rs17085007	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	13q12.13	USP12	rs17085007-C	0.23	7E-8		1.35	[1.21-1.51]	Illumina [513923]	N
797	chr13	27879525	27879526	rs10507380	17903306	Newton-Cheh C	2007-09-19	BMC Med Genet	Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.	Electrocardiographic traits	1,951 European ancestry individuals from 355 families	NA	13q12.2	RPL21	rs10507380-?	NR	8E-6	(QT interval)			Affymetrix [70897]	N
798	chr13	27920610	27920611	rs9512637	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (heaviness of drinking)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	13q12.2	intergenic	rs9512637-C	0.32	1E-7		0.105	[NR] unit decrease	Illumina [~ 300000]	N
798	chr13	28020179	28020180	rs4771122	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	13q12.2	MTIF3, GTF3A	rs4771122-G	0.24	9E-10		0.09	[0.03-0.15] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
799	chr13	28058403	28058404	rs7336332	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	13q12.2	NR	rs7336332-G	0.15	1E-6		4.01	[2.40-5.62] percentage SD increase	Illumina [305846]	N
799	chr13	28077143	28077144	rs9512730	18347602	Sullivan PF	2008-03-18	Mol Psychiatry	Genomewide association for schizophrenia in the CATIE study: results of stage 1.	Schizophrenia	417 European ancestry cases, 411 European ancestry controls, 217 African American cases, 219 African American controls, 104 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry cases, 103 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry controls	NA	13q12.2	intergenic	rs9512730-?	0.26	5E-6		1.52	[NR]	Affymetrix [492900]	N
799	chr13	28158228	28158229	rs9512755	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	13q12.2	LNX2	rs9512755-?		4E-6				Affymetrix, Illumina [1348798]	N
800	chr13	28197435	28197436	rs7097	21471979	Kumar V	2011-04-07	J Hum Genet	Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.	Large B-cell lymphoma	74 Japanese ancestry cases, 934 Japanese ancestry controls	325 Japanese ancestry cases, 3,309 Japanese ancestry controls	13q12.2	LNX2	rs7097-?	NR	7E-6		1.44	[1.23-1.67]	Illumina [444361]	N
801	chr13	28360486	28360487	rs1923834	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)	83 Japanese ancestry cases, 370 Japanese ancestry controls	NA	13q12.2	GSX1	rs1923834-G	0.77	5E-6	(Dominant model)	3.236	[1.823-5.744]	Illumina [733202]	N
801	chr13	28429737	28429738	rs9512900	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	13q12.2	GSX1, PDX1	rs9512900-C	0.37	9E-6				Perlegen [378332]	N
802	chr13	28476977	28476978	rs9554197	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	13q12.2	PDX1-AS1	rs9554197-T	0.399	9E-11		1.14	[1.1-1.19]	Illumina [866891] (imputed)	N
802	chr13	28491197	28491198	rs2293941	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	13q12.2	PDX1	rs2293941-?		5E-10				Affymetrix, Illumina [~ 2400000] (imputed)	N
802	chr13	28493996	28493997	rs9581943	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	13q12.2	PDX1	rs9581943-?	NR	2E-7		1.17	[1.10-1.24]	Illumina [866891] (imputed)	N
802	chr13	28493996	28493997	rs9581943	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls	13q12.2	URAD, FLT3, PAN3-AS1, PAN3, GSX1, PDX1-AS1, PDX1, ATP5EP2, CDX2	rs9581943-A	0.406	2E-9		1.15	[1.10-1.20]	Illumina [608202]	N
803	chr13	28620035	28620036	rs9507983	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q12.2	FLT3	rs9507983-C	0.389	3E-7	(EA)	0.02	[0.012-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
803	chr13	28620035	28620036	rs9507983	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q12.2	FLT3	rs9507983-C	0.388	1E-7		0.02	[0.012-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
805	chr13	28929710	28929711	rs17086609	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	13q12.3	FLT1	rs17086609-?	0.3475	5E-6	(IED)			Illumina [475971]	N
806	chr13	28984062	28984063	rs9508025	23364394	Lee JY	2013-01-31	J Hum Genet	A genome-wide association study of a coronary artery disease risk variant.	Coronary heart disease	2,123 Korean ancestry cases, 3,591 Korean ancestry controls	3,052 Japanese ancestry cases, 4,976 Japanese ancestry controls	13q12.3	FLT1	rs9508025-C	0.50	6E-7		1.14	[1.08-1.20]	Affymetrix [521786]	N
807	chr13	29164782	29164783	rs9579199	24080446	Rudolph A	2013-11-04	Endocr Relat Cancer	Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.	Breast cancer (menopausal hormone therapy interaction)	2,920 European ancestry cases	7,689 European ancestry cases, 9,266 European ancestry controls	13q12.3	POMP	rs9579199-?		8E-6		1.2048	[1.11-1.32]	Illumina [2500000] (imputed)	N
808	chr13	29278449	29278450	rs1305088	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	13q12.3	SLC46A3	rs1305088-A	0.06	9E-6	(ALT)	0.58	[NR] unit increase	Illumina [324623]	N
809	chr13	29368705	29368706	rs954108	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q12.3	SLC46A3	rs954108-A	0.463	1E-6	(Diet fat )	0.02	[NR] %energy increase	Illumina [899892]	N
809	chr13	29431337	29431338	rs1161463	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Attention deficit hyperactivity disorder symptoms (interaction)	909 European ancestry trios	NA	13q12.3	intergenic	rs1161463-C	0.79	2E-6	(int, MW)	1.72	[NR] unit decrease	Perlegen [429981]	N
810	chr13	29620653	29620654	rs2479768	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	13q12.3	KIAA0774	rs2479768-G	0.03	6E-6			[NR]	Affymetrix [398699]	N
812	chr13	29836250	29836251	rs11616416	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q12.3	NR	rs11616416-A	NR	7E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
813	chr13	29898782	29898783	rs61999321	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q12.3	MTUS2	rs61999321-A	0.015	8E-6	(Cystathionine )	0.03	[NR] umol/L increase	Illumina [899892]	N
813	chr13	29961331	29961332	rs2388082	22754043	Byrne EM	2012-07-01	Sleep	A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.	Insomnia (caffeine-induced)	2,402 European ancestry individuals from 1,470 families	NA	13q12.3	MTUS2	rs2388082-?	0.89	4E-6		1.69	[1.35-2.13]	Illumina [2380486] (imputed)	N
813	chr13	29990965	29990966	rs3125719	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	13q12.3	MTUS2	rs3125719-?	NR	7E-6		0.56	unit decrease	NR [at least 1978803] (imputed)	N
816	chr13	30347834	30347835	rs2892463	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Non-word repetition	6,649 European ancestry children and adolescents	NA	13q12.3	UBL3	rs2892463-?	NR	8E-6				Illumina [~ 2400000] (imputed)	N
817	chr13	30458736	30458737	rs9314986	20460270	Garcia-Barcelo MM	2010-05-11	Hum Mol Genet	Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.	Biliary atresia	281 Chinese ancestry cases, 481 Chinese ancestry controls	124 Chinese ancestry cases, 90 Chinese ancestry controls	13q12.3	UBL3	rs9314986-G	0.044	2E-6		2.95	[1.89-4.60]	Affymetrix [289118]	N
820	chr13	30885222	30885223	rs185694	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	13q12.3	KATNAL1	rs185694-?	NR	4E-6				Affymetrix [NR]	N
820	chr13	30916262	30916263	rs12429252	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	13q12.3	KATNAL	rs12429252-G	0.19	4E-6		0.117	[0.068-0.166] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
821	chr13	30957687	30957688	rs7335631	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	13q12.3	KATNAL1	rs7335631-C	0.09	3E-6	(multivariate)			Illumina [319818]	N
821	chr13	30961467	30961468	rs6490455	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	13q12.3	NR	rs6490455-?	NR	9E-7				Affymetrix [5486770] (imputed)	N
822	chr13	31113378	31113379	rs11618202	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Hippocampal volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	13q12.3	HMGB1	rs11618202-?	NR	7E-6		3.0E-4	[NR] unit decrease	Illumina [478011]	N
823	chr13	31314454	31314455	rs3885907	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU)	116 Japanese ancestry cases, 108 Japanese ancestry controls	NA	13q12.3	ALOX5AP	rs3885907-G	0.18	1E-6	(Dominant)	2.66	[1.71-4.13]	Illumina [555600]	N
823	chr13	31314679	31314680	rs3922435	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Non-word repetition	6,649 European ancestry children and adolescents	NA	13q12.3	ALOX5AP	rs3922435-?	NR	7E-6				Illumina [~ 2400000] (imputed)	N
825	chr13	31469664	31469665	rs17534004	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	13q12.3	NR	rs17534004-?	NR	2E-8	(Japanese)	0.8173	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
826	chr13	31698293	31698294	rs912294	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in microsatellite instability low/stable colorectal cancer	431 European ancestry cases	NA	13q12.3	intergenic	rs912294-?		5E-6	(disease-free survival)	1.67	[1.34-2.08]	Illumina [729737]	N
827	chr13	31819324	31819325	rs9542236	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	13q12.3	B3GALTL	rs9542236-C	0.44	2E-8		1.1	[1.07-1.14]	Affymetrix, Illumina [2442884] (imputed)	N
830	chr13	32125314	32125315	rs1902272	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	13q12.3	intergenic	rs1902272-C		1E-6		0.3074	unit increase	Illumina [5767231] (imputed)	N
833	chr13	32627647	32627648	rs9533282	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	13q13.1	FRY	rs9533282-?	NR	4E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
833	chr13	32627647	32627648	rs9533282	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	13q13.1	FRY	rs9533282-?	NR	2E-6	(SBP,CPD)			Affymetrix [2485435] (imputed)	N
834	chr13	32710519	32710520	rs7331540	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	13q13.1	NR	rs7331540-C	0.442209461024499	5E-6	(IGP29)	0.1407	[0.08-0.201] unit increase	Illumina [~ 2500000] (imputed)	N
836	chr13	32953387	32953388	rs4942486	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	13q13.1	BRCA2	rs4942486-T	0.48	2E-11		0.024	[NR] unit increase	NR [NR] (imputed)	N
836	chr13	32972625	32972626	rs11571833	24880342	Wang Y	2014-06-01	Nat Genet	Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.	Lung cancer	3,442 European ancestry adenocarcinoma cases, 3,275 European ancestry squamous cell carcinoma cases, 4,631 cases, up to 15,861 controls	3,589 European ancestry adenocarcinoma cases, 3,202 European ancestry squamous cell carcinoma cases, 3,455 cases, up to 38,295 controls	13q13.1	BRCA2, FRY	rs11571833-T	0.011	2E-19	(All lung cancer)	1.83	[1.61-2.09]	Illumina [8900000] (imputed)	N
836	chr13	32972625	32972626	rs11571833	24880342	Wang Y	2014-06-01	Nat Genet	Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.	Lung cancer	3,442 European ancestry adenocarcinoma cases, 3,275 European ancestry squamous cell carcinoma cases, 4,631 cases, up to 15,861 controls	3,589 European ancestry adenocarcinoma cases, 3,202 European ancestry squamous cell carcinoma cases, 3,455 cases, up to 38,295 controls	13q13.1	BRCA2, FRY	rs11571833-T	0.0105	5E-20	(Squamous cell carcinoma)	2.47	[2.03-3.00]	Illumina [8900000] (imputed)	N
836	chr13	32972625	32972626	rs11571833	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	13q13.1	BRCA2, N4BP2L1	rs11571833-T	0.496	6E-6		1.52	[1.31-1.77]	Illumina [NR]	N
836	chr13	32972625	32972626	rs11571833	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	13q13.1	BRCA2, N4BP2L1, N4BP2L2	rs11571833-T	0.0080	5E-8		1.26	[1.14-1.39]	Affymetrix, Illumina [~ 2600000] (imputed)	N
837	chr13	33147051	33147052	rs718444	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	13q13.1	APRIN	rs718444-T	0.37	2E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
837	chr13	33147547	33147548	rs7332115	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	13q13.1	PDS5B/BRCA2	rs7332115-T	0.62	6E-10		0.023	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
838	chr13	33184287	33184288	rs9595908	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q13.1	PDS5B	rs9595908-T	0.622	6E-6		0.014	[0.0077-0.0195] kg/m2 increase	Affymetrix, Illumina [2550021]	N
838	chr13	33184287	33184288	rs9595908	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q13.1	PDS5B	rs9595908-T	0.616	6E-6	(EA)	0.014	[0.008-0.0202] kg/m2 increase	Affymetrix, Illumina [2550021]	N
839	chr13	33387245	33387246	rs990324	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	13q13.1	PDS5B	rs990324-?	NR	5E-6		0.006	unit decrease	Illumina [478011]	N
841	chr13	33680853	33680854	rs642899	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	13q13.1	NR	rs642899-C	0.233	8E-6	(Alcohol dependence)			Illumina [527829]	N
842	chr13	33693836	33693837	rs9315204	20364137	Yasuno K	2010-04-04	Nat Genet	Genome-wide association study of intracranial aneurysm identifies three new risk loci.	Intracranial aneurysm	2,780 European ancestry cases, 12,515 European ancestry controls	3,111 Japanese ancestry cases, 1,666 Japanese ancestry controls	13q13.1	STARD13	rs9315204-T	0.21	3E-9		1.2	[1.13-1.28]	Illumina [831534] (imputed)	N
842	chr13	33798261	33798262	rs2555603	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in asthmatics	1,881 European ancestry children, 810 children, 2,643 European ancestry adult individuals, 817 adult individuals	979 European ancestry children, 921 Hispanic children, 120 children	13q13.1	STARD13, RP11-81F11.3	rs2555603-C	0.25	3E-6	(adult)			Illumina [up to 536451]	N
846	chr13	34222260	34222261	rs8001893	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	13q13.2	STARD13	rs8001893-A	0.025	7E-6		0.3	[0.16-0.44] unit increase	Illumina [2316178] (imputed)	N
849	chr13	34641561	34641562	rs12868495	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	13q13.2	VDAC1P12	rs12868495-A	0.03	6E-7	(Age 6)	1.22	[1.13-1.32] unit increase	Illumina [2461244] (imputed)	N
849	chr13	34654917	34654918	rs690705	20061627	Heinzen EL	2009-09-11	J Alzheimers Dis	Genome-wide scan of copy number variation in late-onset Alzheimer's disease.	Alzheimer's disease	331 European ancestry cases, 368 European ancestry controls	NA	13q13.2	RFC3	rs690705-?	0.25	6E-7				Illumina [~ 550000]	N
851	chr13	34903091	34903092	rs571411	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q13.2	RFC3	rs571411-G	0.015	3E-6	(Bone mineral content )	0.02	[NR] kg increase	Illumina [899892]	N
851	chr13	34906054	34906055	rs627871	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q13.2	RFC3	rs627871-A	0.0070	3E-6	(Vigorous activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
851	chr13	34950526	34950527	rs17798800	23374588	Martinelli-Boneschi F	2013-01-29	Neurobiol Aging	Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.	Response to cholinesterase inhibitors in Alzheimer's disease	92 European ancestry cases, 77 European ancestry controls	94 European ancestry cases, 74 European ancestry controls	13q13.2	intergenic	rs17798800-?	0.71	7E-6	(cases vs. controls)	2.63	[1.72-4]	Illumina [522109]	N
853	chr13	35165389	35165390	rs9599293	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	13q13.2	NR	rs9599293-?	NR	2E-6		3.033	[1.84-4.23] unit decrease	Illumina [498648]	N
853	chr13	35194021	35194022	rs1329313	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q13.2	NR	rs1329313-T	NR	3E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
857	chr13	35768788	35768789	rs17051917	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	13q13.3	intergenic	rs17051917-?	0.89	9E-6		1.19	[1.1-1.28]	Affymetrix, Illumina [~ 2300000] (imputed)	N
861	chr13	36177818	36177819	rs1777672	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	13q13.3	intergenic	rs1777672-?	NR	4E-7	(progression)			Illumina [NR]	N
862	chr13	36351765	36351766	rs7328278	22560479	Forno E	2012-05-02	J Allergy Clin Immunol	Genome-wide association study of the age of onset of childhood asthma.	Asthma (childhood onset)	573 European ancestry children	107 European ancestry children, 591 Hispanic children, 233 children	13q13.3	NR	rs7328278-C	0.0285	3E-6		0.13	[NR] unit increase	Illumina [512296]	N
863	chr13	36441098	36441099	rs12428086	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q13.3	DCLK1	rs12428086-G	0.374	5E-6	(Dinner intake )	0.04	[NR] kcal increase	Illumina [899892]	N
863	chr13	36454192	36454193	rs2051090	23535911	Kitamoto T	2013-03-28	Hum Genet	Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.	Non-alcoholic fatty liver disease	392 Japanese ancestry cases, 934 Japanese ancestry controls	172 Japanese ancestry cases, 1,012 Japanese ancestry controls	13q13.3	DCLK1	rs2051090-G	0.81	7E-6		1.19	[0.88-1.62]	Illumina [261540]	N
863	chr13	36476446	36476447	rs6563210	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	13q13.3	DCLK1	rs6563210-A	0.56	7E-7		0.039	[0.023-0.055] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
863	chr13	36531547	36531548	rs34065801	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	13q13.3	FAM48A	rs34065801-C	0.176	6E-6		0.096	[0.055-0.137] cup size increase	Illumina [7422970] (imputed)	N
864	chr13	36652616	36652617	rs1926320	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Vertical cup-disc ratio	7,360 European ancestry individuals	4,455 European ancestry individuals	13q13.3	DCLK1	rs1926320-C	0.24	1E-8		0.01	[0.010-0.014] mm2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
864	chr13	36663301	36663302	rs9315385	17903306	Newton-Cheh C	2007-09-19	BMC Med Genet	Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.	Heart rate variability traits	747 European ancestry individuals from 307 families	NA	13q13.3	DCAMKL1	rs9315385-?	NR	8E-6	(total power)			Affymetrix [70897]	N
864	chr13	36694390	36694391	rs9546434	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	13q13.3	DCLK1	rs9546434-T	0.23	4E-8	(EA)	0.022	[0.014-0.030] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
864	chr13	36694390	36694391	rs9546434	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	13q13.3	DCLK1	rs9546434-T	0.23	2E-11		0.021	[0.015-0.027] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
865	chr13	36771016	36771017	rs7327064	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	13q13.3	SOHLH2	rs7327064-T	NR	6E-6	(Foreign Policy)	0.14	[0.079-0.201] unit increase	Illumina [628922]	N
865	chr13	36772380	36772381	rs2149423	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	13q13.3	SOHLH2, CCDC169-SOHLH2	rs2149423-?		4E-7	(DI)	2.18	[1.24-3.12] unit increase	Illumina [693128]	N
870	chr13	37417426	37417427	rs609418	25948407	Kertai MD	2015-05-06	BMJ Open	Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.	Perioperative myocardial infarction in coronary artery bypass surgery	112 cases, 1,321 controls	113 European ancestry cases, 509 European ancestry controls	13q13.3	SMAD9, RFXAP	rs609418-?	NR	6E-6		1.67	[1.34-2.09]	Illumina [534390]	N
870	chr13	37433720	37433721	rs563538	25599974	Zhang H	2015-01-19	Genet Epidemiol	A Genome-Wide Association Study of Early Spontaneous Preterm Delivery.	Spontaneous preterm birth (preterm birth)	916 pre-term birth neonates, 935 term birth neonates	243 pre-term birth neonates, 149 term birth neonates	13q13.3	SMAD9	rs563538-T	0.04	8E-6		2.05	[NR]	Affymetrix [797196]	N
873	chr13	37762636	37762637	rs2323397	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		13q13.3	CSNK1A1L	rs2323397-A	NR	3E-6		0.0357	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
875	chr13	38035188	38035189	rs1590305	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	13q13.3	intergenic	rs1590305-?	NR	3E-6	(NeckZ1rm)			Affymetrix [70897]	N
875	chr13	38065445	38065446	rs9646096	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	13q13.3	POSTN, TRPC4	rs9646096-?	0.05	6E-6	(EA)	1.35	[1.19-1.54]	Affymetrix, Illumina [~ 2500000] (imputed)	N
875	chr13	38065445	38065446	rs9646096	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	13q13.3	POSTN, TRPC4	rs9646096-?	0.05	6E-6		1.35	[1.19-1.54]	Affymetrix, Illumina [~ 2500000] (imputed)	N
875	chr13	38116391	38116392	rs9547929	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	13q13.3	NR	rs9547929-?	NR	6E-6		3.001	[NR]	Illumina [4196861] (imputed)	N
875	chr13	38118530	38118531	rs9594221	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	13q13.3	intergenic	rs9594221-?	NR	7E-6		2.98	[1.85-4.79]	Illumina [4196861] (imputed)	N
876	chr13	38260407	38260408	rs6563569	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	13q13.3	Mir_720, TRPC4, POSTN, FLJ34747	rs6563569-C	0.44	6E-6		1.16	[NR]	Illumina [7659573] (imputed)	N
877	chr13	38363449	38363450	rs9548050	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q13.3	TRPC4	rs9548050-G	0.24	9E-6	(Protein deposition )	0.03	[NR] kcal/d increase	Illumina [899892]	N
877	chr13	38363449	38363450	rs9548050	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q13.3	TRPC4	rs9548050-G	0.24	9E-6	(Protein )	0.03	[NR] kg/y increase	Illumina [899892]	N
878	chr13	38450234	38450235	rs12431204	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q13.3	NR	rs12431204-A	NR	4E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
878	chr13	38531580	38531581	rs9548119	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	13q13.3	intergenic	rs9548119-A	0.22	9E-6		0.03	[NR] unit increase	Illumina [2380486] (imputed)	N
881	chr13	38829621	38829622	rs648516	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q13.3	NR	rs648516-T	NR	1E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
885	chr13	39350889	39350890	rs4526895	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	13q13.3	FREM2	rs4526895-C	0.414	2E-6	(Genotype model)	1.38	[0.93-2.04]	Illumina [508761]	N
885	chr13	39370594	39370595	rs9594293	21993531	Kuparinen T	2011-10-13	Genes Immun	Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.	Cytomegalovirus antibody response	1,485 European ancestry sero-postitive individuals, 648 European ancestry sero-negative individuals	NA	13q13.3	FREM2	rs9594293-A	0.15	7E-6		0.229	[0.13-0.33] unit decrease	Illumina [546677]	N
886	chr13	39516626	39516627	rs9315632	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	13q13.3	STOML3	rs9315632-?	0.28	3E-6	(WHR)			Illumina [308011]	N
889	chr13	39903242	39903243	rs6563695	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	13q13.3	LHFP	rs6563695-?	NR	5E-6	(EA)	3.65	[2.09-6.36]	Illumina [2485249] (imputed)	N
891	chr13	40118067	40118068	rs9315702	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	13q14.11	LHFP	rs9315702-A	0.44	2E-8	(Hippocampal volume)			Illumina [2131250] (imputed)	N
892	chr13	40239784	40239785	rs6563739	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	13q14.11	COG6	rs6563739-G	0.34	2E-11		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
892	chr13	40333368	40333369	rs34394770	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	13q14.11	COG6	rs34394770-T	0.643	5E-8		1.11	[1.07-1.15]	Illumina [up to 4778154] (imputed)	N
892	chr13	40333368	40333369	rs34394770	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	13q14.11	COG6	rs34394770-T	0.643	3E-8	EA	1.16	[1.1-1.22]	Illumina [up to 4778154] (imputed)	N
892	chr13	40350911	40350912	rs7993214	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	13q14.11	COG6	rs7993214-?	0.65	2E-6		1.41	[1.22-1.61]	Illumina [305983]	N
892	chr13	40368068	40368069	rs9603616	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	13q14.11	COG6	rs9603616-C	0.68	2E-12		1.1	[1.07-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
892	chr13	40368068	40368069	rs9603616	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	13q14.11	COG6	rs9603616-C	0.66	3E-11	(EA)	1.11	[1.07-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
893	chr13	40396136	40396137	rs77868089	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q14.11	NR	rs77868089-A	NR	3E-6		1.19	[NR]	Illumina [7158791] (imputed)	N
894	chr13	40505509	40505510	rs9548988	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	13q14.11	intergenic	rs9548988-T	0.46	3E-7		1.1	[1.03-1.19]	Affymetrix [NR]	N
895	chr13	40695991	40695992	rs915286	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	NR	rs915286-A	0.55	3E-9	(EA)	1.0604076		Affymetrix, Illumina [~ 9000000] (imputed)	N
895	chr13	40695991	40695992	rs915286	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	NR	rs915286-G	0.55	3E-8	(EA)	1.068916		Affymetrix, Illumina [~ 9000000] (imputed)	N
895	chr13	40741906	40741907	rs9315762	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	13q14.11	FLJ42392	rs9315762-?	0.1535	7E-6	(anti-B2 GPI)	2.255	[NR]	Affymetrix [906600]	N
896	chr13	40788365	40788366	rs111834582	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	13q14.11	NR	rs111834582-?	NR	3E-6	(Latino)	1.2451	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
896	chr13	40807482	40807483	rs10492681	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	13q14.11	intergenic	rs10492681-?	NR	2E-6	(ALT)			Affymetrix [70897]	N
896	chr13	40833011	40833012	rs17061048	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	NR	rs17061048-A	0.95	5E-9	(EA)	1.1451334		Affymetrix, Illumina [~ 9000000] (imputed)	N
896	chr13	40833011	40833012	rs17061048	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	NR	rs17061048-T	0.95	1E-7	(EA)	1.1618136		Affymetrix, Illumina [~ 9000000] (imputed)	N
897	chr13	40948150	40948151	rs913246	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	13q14.11	NR	rs913246-?	NR	7E-6		1.9374	[NR]	Affymetrix [722112]	N
897	chr13	41013976	41013977	rs941823	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	NR	rs941823-G	0.75	1E-13	(EA)	1.1147928		Affymetrix, Illumina [~ 9000000] (imputed)	N
897	chr13	41013976	41013977	rs941823	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	NR	rs941823-G	0.75	6E-13	(EA)	1.0865605		Affymetrix, Illumina [~ 9000000] (imputed)	N
897	chr13	41013976	41013977	rs941823	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	13q14.11	intergenic	rs941823-C	0.758	2E-14		1.071	[1.036-1.107]	Affymetrix, Illumina [1230000] (imputed)	N
897	chr13	41013976	41013977	rs941823	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	13q14.11	intergenic	rs941823-C	0.76	4E-12		1.12	[1.07-1.17]	Affymetrix, Illumina [~ 1100000] (imputed)	N
898	chr13	41109428	41109429	rs2755237	20719862	Vitart V	2010-08-18	Hum Mol Genet	New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.	Central corneal thickness	1,445 European ancestry individuals	5,882 European ancestry individuals	13q14.11	FOXO1	rs2755237-A	NR	1E-8		0.17	[0.11-0.23] unit increase	Illumina [~ 2000000] (imputed)	N
898	chr13	41110883	41110884	rs2721051	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	13q14.11	FOXO1	rs2721051-T	0.11	4E-14		0.17	[0.13-0.21] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
898	chr13	41110883	41110884	rs2721051	20485516	Lu Y	2010-05-13	PLoS Genet	Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.	Central corneal thickness	3,473 European ancestry twins in 1,905 families, 301 European ancestry thin CCT cases, 301 European ancestry thick CCT controls	NA	13q14.11	FOXO1	rs2721051-G	NR	5E-10		0.24	[0.16-0.32] unit decrease	Illumina [~ 2400000]	N
902	chr13	41558109	41558110	rs7329174	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	13q14.11	ELF1	rs7329174-G	0.21	6E-6		1.45		Illumina [2100739] (imputed)	N
902	chr13	41558109	41558110	rs7329174	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	13q14.11	WBP4, ELF1, microRNA2276, SLC25A15	rs7329174-G	NR	8E-9		1.27	[1.17-1.38]	Illumina [4929034] (imputed)	N
902	chr13	41558109	41558110	rs7329174	21044949	Yang J	2010-11-02	Hum Mol Genet	ELF1 is associated with systemic lupus erythematosus in Asian populations.	Systemic lupus erythematosus	612 Chinese ancestry cases, 1,160 Chinese ancestry controls	2,090 Chinese ancestry cases, 1,981 Chinese ancestry controls, 462 Thai ancestry cases, 951 Thai ancestry controls	13q14.11	ELF1	rs7329174-G	0.22	1E-8		1.26	[1.16-1.36]	Illumina [513108]	N
906	chr13	42139244	42139245	rs17594362	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	13q14.11	KIAA0564	rs17594362-A	NR	4E-6		1.11	[1.09-1.13]	Illumina [465434]	N
906	chr13	42175587	42175588	rs9590614	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	13q14.11	VWA8	rs9590614-G	0.61	1E-8	(Panlobular)	0.002	[0.00082-0.00318] unit decrease	Illumina [6942916] (imputed)	N
909	chr13	42505673	42505674	rs1900442	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	13q14.11	VWA8	rs1900442-T	0.85	5E-6		2.7027	[NR]	Affymetrix [up to 4467279] (imputed)	N
909	chr13	42559075	42559076	rs7336933	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	13q14.11	KIAA0564, DGKH	rs7336933-A	0.15	9E-10		0.022	[0.014-0.03] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
909	chr13	42591838	42591839	rs9532969	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	13q14.11	DGKH	rs9532969-C		3E-6		0.05	[0.03-0.06] unit increase	Affymetrix [~ 2500000] (imputed)	N
910	chr13	42611666	42611667	rs9525562	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	13q14.11	NR	rs9525562-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
910	chr13	42631718	42631719	rs6561030	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	13q14.11	DGKH	rs6561030-A	0.28	7E-6		0.05	[0.03-0.07] cm decrease	Illumina [420885]	N
910	chr13	42653436	42653437	rs1012053	17486107	Baum AE	2007-05-08	Mol Psychiatry	A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.	Bipolar disorder	461 European ancestry cases, 563 European ancestry controls	772 European ancestry cases, 876 European ancestry controls	13q14.11	DGKH	rs1012053-A	0.84	2E-8		1.59	[1.35-1.87]	Illumina [555235]	N
911	chr13	42754521	42754522	rs4142110	22396660	Urabe Y	2012-03-01	PLoS Genet	A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.	Nephrolithiasis	904 Japanese ancestry cases, 7,471 Japanese ancestry controls	4,892 Japanese ancestry cases, 9,873 Japanese ancestry controls	13q14.11	DGKH	rs4142110-?	NR	5E-9		1.14	[1.09-1.19]	Illumina [556249]	N
911	chr13	42786679	42786680	rs347412	25221879	Wu K	2014-09-15	Am J Respir Crit Care Med	Genome-wide Interrogation of Longitudinal FEV1 in Children with Asthma.	Pulmonary function in asthmatics	510 European ancestry	NA	13q14.11	DGKH	rs347412-A	0.543	1E-6	(Baseline FEV1)	0.026	[NR] unit increase	Illumina [473680]	N
912	chr13	42910318	42910319	rs61959448	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	NR	rs61959448-?	NR	2E-10	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
912	chr13	42951448	42951449	rs9533090	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	13q14.11	AKAP11	rs9533090-?	NR	3E-7	(spine)			Affymetrix, Illumina [5842825] (imputed)	N
912	chr13	42951448	42951449	rs9533090	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	13q14.11	AKAP11	rs9533090-T	0.49	5E-68	(LSBMD)	0.1	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
912	chr13	42951448	42951449	rs9533090	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	13q14.11	AKAP11	rs9533090-T	0.50	5E-25		0.12	[0.10-0.14] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
912	chr13	42952144	42952145	rs9594738	21533022	Duncan EL	2011-04-21	PLoS Genet	Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.	Bone mineral density	900 European ancestry female individuals with low hip bone mineral density, 1,055 European ancestry female individuals with high hip bone mineral density	20,898 European ancestry female individuals	13q14.11	RANKL	rs9594738-T	NR	4E-6	(lumbar spine)	0.15	[NR] unit increase	Illumina [2543887] (imputed)	N
912	chr13	42952144	42952145	rs9594738	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (hip)	5,861 European ancestry individuals	7,925 European ancestry individuals	13q14.11	RANKL	rs9594738-T	0.56	2E-8		0.1	[0.06-0.13] s.d. decrease	Illumina [301019]	N
912	chr13	42956620	42956621	rs17638544	23437003	Paternoster L	2013-02-21	PLoS Genet	Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.	Bone mineral density	up to 5,878 European ancestry individuals	up to 1,052 European ancestry individuals	13q14.11	TNFSF11	rs17638544-T	0.07	5E-6	(Cortical vBMD - conditional on rs1021188)	0.13	[0.071-0.189] unit increase	Illumina [2401124] (imputed)	N
912	chr13	42965693	42965694	rs8001611	23644456	Styrkarsdottir U	2013-05-05	Nature	Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.	Bone mineral density	4,931 European ancestry cases, 69,034 European ancestry controls	NA	13q14.11	NR	rs8001611-?	NR	2E-12		1.21	[NR]	Illumina [30600000] (imputed)	N
912	chr13	42969048	42969049	rs9533095	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	13q14.11	TNFSF11	rs9533095-?	NR	2E-15	(spine)			Affymetrix, Illumina [5842825] (imputed)	N
913	chr13	43018029	43018030	rs9525625	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	AKAP1, TFSF11	rs9525625-A	0.4706	7E-6	(EA)	1.0460321	[1.03-1.07]	Affymetrix, Illumina [~ 9000000] (imputed)	N
913	chr13	43018029	43018030	rs9525625	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	AKAP1, TFSF11	rs9525625-A	0.4706	1E-9	(EA)	1.0763987	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
913	chr13	43032592	43032593	rs9594759	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (spine)	6,865 European ancestry individuals	8,510 European ancestry individuals	13q14.11	RANKL	rs9594759-T	0.62	2E-17		0.12	[0.09-0.15] s.d. decrease	Illumina [305051]	N
913	chr13	43032592	43032593	rs9594759	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	13q14.11	RANKL	rs9594759-T	0.62	2E-21		0.17	[0.14-0.21] s.d. decrease	Illumina [301019]	N
913	chr13	43052879	43052880	rs2062305	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	13q14.11	TNFSF11	rs2062305-G	0.346	5E-10		1.1	[1.05-1.15]	Affymetrix, Illumina [953241] (imputed)	N
913	chr13	43116132	43116133	rs1021188	23437003	Paternoster L	2013-02-21	PLoS Genet	Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.	Bone mineral density	up to 5,878 European ancestry individuals	up to 1,052 European ancestry individuals	13q14.11	TNFSF11	rs1021188-C	0.17	4E-14	(Cortical vBMD)	0.15	[0.11-0.19] unit decrease	Illumina [2401124] (imputed)	N
913	chr13	43116132	43116133	rs1021188	21124946	Paternoster L	2010-11-18	PLoS Genet	Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential pleiotropic effects on bone.	Bone mineral density	1,934 European ancestry individuals	Up to 3,835 European ancestry individuals	13q14.11	RANKL	rs1021188-C	0.18	2E-14		3.89	[1.91-5.87] mg/cm3 decrease	Illumina [2417199] (imputed)	N
913	chr13	43117200	43117201	rs17596685	24763700	Vinayagamoorthy N	2014-04-24	PLoS One	New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.	C-reactive protein levels	7,626 Korean ancestry individuals	903 Korean ancestry individuals	13q14.11	TNFSF11	rs17596685-T		4E-6		0.093	[NR] unit decrease	Affymetrix [1219546] (imputed)	N
914	chr13	43128576	43128577	rs9525638	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	13q14.11	TNFSF11	rs9525638-C	NR	2E-8	(EA)	0.0949	[0.062-0.128] unit increase	Illumina [~ 2500000] (imputed)	N
914	chr13	43128576	43128577	rs9525638	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	13q14.11	TNFSF11	rs9525638-C	0.42	3E-9		0.089	[0.060-0.118] unit increase	Illumina [~ 2500000] (imputed)	N
914	chr13	43128576	43128577	rs9525638	22792071	Zheng HF	2012-07-05	PLoS Genet	WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.	Cortical thickness	5,878 European ancestry individuals	1,032 European ancestry individuals	13q14.11	TNFSF11, RANKL	rs9525638-T	NR	4E-9		0.09	[0.051-0.129] mm decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
914	chr13	43143028	43143029	rs17536328	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	13q14.11	TNFSF11	rs17536328-T	NR	3E-7	(EA)	0.0866	[0.053-0.12] unit increase	Illumina [~ 2500000] (imputed)	N
914	chr13	43143028	43143029	rs17536328	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	13q14.11	TNFSF11	rs17536328-T	0.42	8E-9		0.086	[0.057-0.115] unit increase	Illumina [~ 2500000] (imputed)	N
914	chr13	43162062	43162063	rs2148072	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, upper limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	13q14.11	TNFSF11	rs2148072-G	0.63	2E-6	(Conditional)	0.0723	[0.043-0.102] unit increase	Illumina [~ 2500000] (imputed)	N
915	chr13	43291288	43291289	rs1323612	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	13q14.11	NR	rs1323612-?	NR	5E-6	(Native Hawaiian)	0.6004	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
917	chr13	43570800	43570801	rs17064002	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q14.11	EPSTI1	rs17064002-A	0.0070	7E-7	(Birth weight )	0.06	[NR] kg increase	Illumina [899892]	N
918	chr13	43727848	43727849	rs1324015	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	13q14.11	DNAJC15	rs1324015-?	0.4193	9E-6	(PC1)			Illumina [475971]	N
918	chr13	43770473	43770474	rs9533425	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	13q14.11	ENOX1	rs9533425-G	0.801	2E-9	(Fibrin lag time)	0.308	[0.21-0.41] unit decrease	Illumina [NR] (imputed)	N
919	chr13	43834269	43834270	rs17538444	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	13q14.11	ENOX1	rs17538444-T	0.0698752	4E-7	(% improvement - SSRI treated - 12 weeks)	0.3905	[0.24-0.54] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
922	chr13	44217063	44217064	rs4942242	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	13q14.11	ENOX1	rs4942242-?	0.47	2E-7	(CHAQ, RF+)	0.13	[NR] unit decrease	Illumina [534053]	N
924	chr13	44457924	44457925	rs3764147	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	NR	rs3764147-G	0.2297	9E-16	(EA)	1.099218	[1.08-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
924	chr13	44457924	44457925	rs3764147	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	13q14.11	LACC1	rs3764147-G	0.248	2E-21		1.155	[1.112-1.199]	Affymetrix, Illumina [1230000] (imputed)	N
924	chr13	44457924	44457925	rs3764147	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	13q14.11	C13orf31	rs3764147-G	0.245	1E-10		1.17	[1.12-1.23]	Affymetrix, Illumina [953241] (imputed)	N
924	chr13	44457924	44457925	rs3764147	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	13q14.11	C13orf31	rs3764147-G	0.31	4E-54		1.68	[1.57-1.80]	Illumina [491883]	N
924	chr13	44457924	44457925	rs3764147	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	13q14.11	Unknown	rs3764147-G	0.22	2E-13		1.25	[NR]	Affymetrix, Illumina [635547] (imputed)	N
924	chr13	44471876	44471877	rs9567307	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	13q14.11	LACC1	rs9567307-T	0.314	1E-93		1.58	[NR]	Illumina [4577171] (imputed)	N
924	chr13	44474516	44474517	rs8002861	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	13q14.11	LACC1	rs8002861-A	0.67	7E-6		1.1111112	[NR]	Illumina [4577171] (imputed)	N
924	chr13	44484705	44484706	rs6561151	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q14.11	NR	rs6561151-?	NR	5E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
925	chr13	44627787	44627788	rs17065323	18759275	McArdle PF	2008-09-01	Arthritis Rheum	Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.	Uric acid levels	408 Old Order Amish female individuals, 460 Old Order Amish male individuals	Framingham Heart Study (Sample size NR)	13q14.11	NR	rs17065323-?	NR	4E-6		4.29	[NR] mg/dl decrease in uric acid levels	Affymetrix [361034]	N
925	chr13	44637404	44637405	rs9567349	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	13q14.11	NCRNA00284	rs9567349-?	NR	4E-6	(rs1465618)	1.6393	[1.33-2.04]	Affymetrix, Illumina [1117531] (imputed)	N
926	chr13	44702868	44702869	rs9525916	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	13q14.11	SERP2, LOC121838	rs9525916-T	0.43	5E-6	(Carbohydrate)			Affymetrix [590000]	N
926	chr13	44702868	44702869	rs9525916	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	13q14.11	SERP2, LOC121838	rs9525916-T	0.43	7E-6	(Carbohydrate)			Affymetrix [590000]	N
926	chr13	44706267	44706268	rs9595066	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q14.11	NR	rs9595066-T	NR	4E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
926	chr13	44808173	44808174	rs9533799	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	13q14.11	intergenic	rs9533799-A	0.36	4E-6	(Joint)	1.17	[1.09-1.24]	Illumina [254145]	N
928	chr13	45055090	45055091	rs17065868	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	13q14.11	TSC22D1	rs17065868-?	NR	3E-6				Affymetrix [NR]	N
930	chr13	45334193	45334194	rs9533962	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	13q14.12	LOC144817	rs9533962-C	0.406	8E-11		1.12	[1.08-1.15]	Illumina [up to 4778154] (imputed)	N
930	chr13	45334193	45334194	rs9533962	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	13q14.12	LOC144817	rs9533962-C	0.406	2E-8	EA	1.14	[1.09-1.19]	Illumina [up to 4778154] (imputed)	N
931	chr13	45475581	45475582	rs114280567	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	13q14.12	intergenic	rs114280567-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
931	chr13	45477409	45477410	rs12865097	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	13q14.12	NUFIP1, TSC22D1, LINC003300	rs12865097-?	NR	7E-6		0.78	[0.45-1.11] unit increase	Illumina [1075436] (imputed)	N
932	chr13	45493880	45493881	rs17648246	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		13q14.12	NUFIP1	rs17648246-A	NR	1E-6		0.275	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
935	chr13	45886185	45886186	rs79490558	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	13q14.13	GTF2F2, TPT1	rs79490558-?	NR	1E-6		0.31	[0.17-0.45] unit increase	Illumina [1075436] (imputed)	N
935	chr13	45900266	45900267	rs7323755	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		13q14.13	intergenic	rs7323755-?	0.041	2E-13			[NR]	Affymetrix, Illumina [152234]	N
939	chr13	46516467	46516468	rs741668	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	13q14.13	ZC3H13	rs741668-?		5E-6		0.267	[NR] unit increase	Illumina [5970354] (imputed)	N
941	chr13	46703141	46703142	rs7324845	23213074	Adams LA	2012-12-05	Hepatology	Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	126 European ancestry adolescent cases, 802 European ancestry adolescent controls	NA	13q14.13	LCP1	rs7324845-A	0.096	3E-6		3.29	[0.76-5.82]	Illumina [2078805] (imputed)	N
942	chr13	46833716	46833717	rs958546	17903304	Larson MG	2007-09-19	BMC Med Genet	Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.	Atrial fibrillation	151 cases and 1,190 controls from 310 families	NA	13q14.13	intergenic	rs958546-?	NR	5E-6				Affymetrix [70897]	N
944	chr13	47128600	47128601	rs7325799	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q14.13	NR	rs7325799-T	0.0199	4E-6	(Total trans-18:1, EA)	0.1777	[0.1-0.25] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
945	chr13	47238716	47238717	rs9590974	24850809	Verweij N	2014-05-21	Circ Cardiovasc Genet	Genetic determinants of P wave duration and PR segment.	PR segment	16,468 European ancestry individuals	NA	13q14.13	LRCH1	rs9590974-A	0.646	2E-8		1.193	[0.78-1.61] unit decrease	Illumina [2300000] (imputed)	N
946	chr13	47429445	47429446	rs7984966	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	13q14.2	HTR2A	rs7984966-?	0.245	2E-6		1.61	[NR]	Illumina [3922209] (imputed)	N
947	chr13	47573615	47573616	rs12583882	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	13q14.2	HTR2A	rs12583882-G	0.34	6E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
950	chr13	47843376	47843377	rs9534578	24993907	Smolonska J	2014-07-03	Eur Respir J	Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.	Asthma or chronic obstructive pulmonary disease	920 European ancestry Asthma cases, 1,030 European ancestry Chronic obstructive pulmonary disease cases, 4,585 European ancestry controls	461 European ancestry Asthma cases, 118 European ancestry Chronic obstructive pulmonary disease cases, 656 European ancestry controls, 720 European, African American and Hispanic Asthma cases, 1,019 European, African American and Hispanic Chronic obstructive pulmonary disease cases, 19,173 European, African American and Hispanic controls, 1,106 Asthma cases, 1,806 Chronic obstructive pulmonary disease cases, 18,580 controls	13q14.2	GNG5P5	rs9534578-?		2E-7		1.06	[NR]	Illumina [1811026]	N
950	chr13	47898878	47898879	rs1417205	22823124	Verweij KJ	2012-07-24	Addict Biol	The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.	Cannabis use (initiation)	10,091 individuals from 4,622 families	NA	13q14.2	GNG5P5	rs1417205-A	0.95	8E-7		0.064	unit decrease	Illumina [~ 2400000] (imputed)	N
952	chr13	48162557	48162558	rs2478333	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	13q14.2	intergenic	rs2478333-A	0.33	4E-8		0.17	[0.11-0.23] unit increase	Illumina [~ 318327]	N
952	chr13	48198715	48198716	rs1575891	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	13q14.2	HTR2A	rs1575891-?	NR	6E-6	(additive)			Affymetrix [361034]	N
954	chr13	48369729	48369730	rs7999699	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	13q14.2	RPL27AP8, SUCLA2	rs7999699-?	0.38-0.47	3E-6	(Fruit)	1.32	[1.18-1.47]	Affymetrix, Illumina [> 2700000] (imputed)	N
954	chr13	48387721	48387722	rs8001976	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to event)	16,995 European ancestry individuals	NA	13q14.2	SUCLA2	rs8001976-T	0.44	3E-6		1.09	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
954	chr13	48436924	48436925	rs11620399	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	13q14.2	SUCLA2	rs11620399-T	0.04	5E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
954	chr13	48436924	48436925	rs11620399	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	13q14.2	SUCLA2	rs11620399-T	0.04	5E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
960	chr13	49250996	49250997	rs1323555	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	13q14.2	CYSLTR2	rs1323555-?		2E-6		0.343	[NR] unit increase	Illumina [430487]	N
962	chr13	49466930	49466931	rs1449572	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		13q14.2	NR	rs1449572-A	0.14	8E-6	(t4;14 vs. controls)	1.73	[1.36-2.21]	Illumina [414804] (imputed)	N
967	chr13	50080846	50080847	rs2031532	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	13q14.2	PHF11	rs2031532-?	NR	5E-6	(recessive)			Affymetrix [361034]	N
967	chr13	50095681	50095682	rs17381960	25475840	Colodro-Conde L	2014-12-05	Twin Res Hum Genet	A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan.	Breastfeeding duration	1,521 mothers from 1,073 families	NA	13q14.2	PHF11, RCBTB1	rs17381960-?	NR	2E-6		0.778	[0.46-1.1] unit decrease	Illumina [6590000] (imputed)	N
967	chr13	50185203	50185204	rs9568281	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		13q14.2	ARL11	rs9568281-?		3E-7	(Cluxel size)			Illumina [208975]	N
968	chr13	50291841	50291842	rs9535307	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q14.2	KPNA3	rs9535307-A	0.082	8E-6	(Fat mass change )	0.03	[NR] kg/y increase	Illumina [899892]	N
968	chr13	50306220	50306221	rs3736830	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	13q14.2	KPNA3	rs3736830-?	NR	9E-6	(Shared)			Affymetrix, Illumina [~ 5200000]	N
968	chr13	50306220	50306221	rs3736830	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	13q14.2	KPNA3	rs3736830-G	0.157	9E-8		0.18	[0.11-0.25] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
970	chr13	50563446	50563447	rs9596219	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	13q14.2	TRIM13	rs9596219-T	0.25	1E-9		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
971	chr13	50718467	50718468	rs2687950	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	13q14.2	KCNRG	rs2687950-T	0.254	9E-27		0.036	[0.03-0.042] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
972	chr13	50835714	50835715	rs2762051	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	13q14.2	intergenic	rs2762051-A	0.18	7E-7		1.13	[1.08-1.18]	Illumina [292387]	N
972	chr13	50841322	50841323	rs806321	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	13q14.2	DLEU1	rs806321-A	NR	5E-7		1.08	[1.07-1.1]	Illumina [465434]	N
972	chr13	50842439	50842440	rs9596270	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	13q14.2	intergenic	rs9596270-T	0.93	7E-7		1.35	[NR]	Affymetrix, Illumina [2529394]	N
973	chr13	50969922	50969923	rs188014	26299439	Li WD	2015-08-24	Sci Rep	Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.	Adiponectin levels	737 European ancestry females	NA	13q14.3	DLEU1	rs188014-?		5E-6				Illumina [up to 550000]	N
973	chr13	50986117	50986118	rs201789	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	13q14.3	XTP6	rs201789-?	0.28	6E-6	(brachial circumference)	0.17	[0.10-0.24] mm increase	Illumina [316730]	N
974	chr13	51066622	51066623	rs1262778	20351715	Liu Y	2010-03-30	Mol Psychiatry	Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.	Bipolar disorder or major depressive disorder (combined)	4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls	NA	13q14.3	intergenic	rs1262778-?	NR	8E-6				Affymetrix, Perlegen [1472580] (imputed)	N
974	chr13	51094113	51094114	rs9316500	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	13q14.3	DLEU7	rs9316500-?	NR	5E-6	(FEV1 decline in non-asthmatics)	0.1352	[0.077-0.193] unit increase	Illumina [~ 2500000] (imputed)	N
974	chr13	51105333	51105334	rs3118905	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	13q14.3	DLEU7	rs3118905-A	0.02	5E-6		0.1	[0.055-0.145] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
974	chr13	51105333	51105334	rs3118905	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	13q14.3	DLEU7	rs3118905-A	0.281	1E-69		0.058	[0.052-0.064] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
974	chr13	51105333	51105334	rs3118905	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	13q14.3	DLEU7	rs3118905-A	0.29	1E-45		0.056	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
974	chr13	51106554	51106555	rs1239947	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	13q14.3	DLEU7	rs1239947-G	0.35	8E-6		3.8	[2.23-5.37] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
974	chr13	51106787	51106788	rs3118906	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	13q14.3	DLEU7	rs3118906-G	0.72	2E-24		1.26	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
974	chr13	51106787	51106788	rs3118906	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	13q14.3	DLEU7	rs3118906-G	0.69	5E-6	(Pubertal growth)	0.07	[0.043-0.097] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
974	chr13	51111354	51111355	rs3116602	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	13q14.3	DLEU7	rs3116602-G	0.21	7E-9		0.04	[0.00-0.07] s.d. decrease (males)	Affymetrix [402951]	N
974	chr13	51116900	51116901	rs3118914	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	13q14.3	DLEU7	rs3118914-?	0.39	4E-10		0.08	[0.05-0.11] s.d. decrease	Illumina [229216]	N
975	chr13	51119136	51119137	rs1239954	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q14.3	intergenic	rs1239954-A	0.0060	9E-6	(TBF-b1 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
975	chr13	51194404	51194405	rs573666	23727862	Savage SA	2013-06-02	Nat Genet	Genome-wide association study identifies two susceptibility loci for osteosarcoma.	Osteosarcoma	694 European ancestry cases, 2,703 European ancestry controls	247 European ancestry cases, 550 European ancestry controls	13q14.3	AJ412031	rs573666-G	NR	9E-6		1.3	[1.16-1.47]	Illumina [698968]	N
977	chr13	51390597	51390598	rs9316505	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		13q14.3	DLEU7	rs9316505-A	NR	3E-8		0.133	[0.086-0.18] unit increase	Illumina [2446724] (imputed)	N
978	chr13	51576169	51576170	rs3790022	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	13q14.3	RNASEH2B, FAM124A	rs3790022-?		1E-6		1.4925	[NR]	Illumina [452367]	N
979	chr13	51724663	51724664	rs7325564	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	13q14.3	NR	rs7325564-C	0.748729805345211	5E-6	(IGP9)	0.2463	[0.14-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
980	chr13	51846604	51846605	rs1006064	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	13q14.3	FAM124A	rs1006064-?		5E-6		0.252	[NR] unit decrease	Illumina [5970354] (imputed)	N
981	chr13	51924374	51924375	rs7338174	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	13q14.3	SERPINE3, MIR5693	rs7338174-?	NR	6E-6			[NR]	Illumina [283437]	N
986	chr13	52609207	52609208	rs12430077	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	13q14.3	NR	rs12430077-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
989	chr13	53009047	53009048	rs11148252	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	13q14.3	VPS36	rs11148252-C	0.5913	9E-6	(Ordinal I)	0.2351	[0.13-0.34] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
993	chr13	53494693	53494694	rs9536318	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	13q14.3	PCDH8	rs9536318-?	0.17	8E-7	(No asthma)	1.25	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
993	chr13	53517883	53517884	rs732949	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	13q14.3	OLFM4, PCDH8	rs732949-C	NR	8E-6		0.166	[0.093-0.239] unit increase	Affymetrix [736996]	N
993	chr13	53605234	53605235	rs8000124	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q14.3	NR	rs8000124-A	0.564	4E-6	(Trans-16:1n-7, EA)	0.0026	[0.0014-0.0038] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
994	chr13	53613558	53613559	rs9568797	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	13q14.3	OLFM4	rs9568797-?		1E-7				Illumina [859311]	N
994	chr13	53643369	53643370	rs2806933	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q14.3	NR	rs2806933-A	0.3791	3E-6	(Trans-16:1n-7, EA)	0.0025	[0.0015-0.0035] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
994	chr13	53645447	53645448	rs1343607	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q14.3	NR	rs1343607-A	0.3747	2E-6	(Trans-16:1n-7, EA)	0.0026	[0.0016-0.0036] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
994	chr13	53645932	53645933	rs2806946	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q14.3	NR	rs2806946-A	0.366	1E-6	(Trans-16:1n-7, EA)	0.0026	[0.0016-0.0036] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
994	chr13	53646137	53646138	rs2806949	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q14.3	NR	rs2806949-A	0.3738	1E-6	(Trans-16:1n-7, EA)	0.0026	[0.0016-0.0036] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
994	chr13	53652127	53652128	rs2246208	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q14.3	NR	rs2246208-T	0.6303	3E-6	(Trans-16:1n-7, EA)	0.0025	[0.0015-0.0035] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
994	chr13	53653855	53653856	rs2806971	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q14.3	NR	rs2806971-A	0.37	3E-6	(Trans-16:1n-7, EA)	0.0025	[0.0015-0.0035] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
994	chr13	53659929	53659930	rs2806974	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q14.3	NR	rs2806974-T	0.6291	3E-6	(Trans-16:1n-7, EA)	0.0025	[0.0015-0.0035] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
996	chr13	53968090	53968091	rs10507577	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	13q14.3	intergenic	rs10507577-?	NR	3E-6	(VitD25OH)			Affymetrix [70897]	N
997	chr13	54064980	54064981	rs9568856	22484627	Bradfield JP	2012-04-08	Nat Genet	A genome-wide association meta-analysis identifies new childhood obesity loci.	Obesity	5,530 European ancestry cases, 8,318 European ancestry controls	2,214 European ancestry cases, 2,674 European ancestry controls	13q14.3	OLFM4	rs9568856-?	NR	2E-9		1.215	[1.140-1.294]	Affymetrix, Illumina [2700000] (imputed)	N
997	chr13	54102205	54102206	rs12429545	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index	9,377 children and adolescents	3,918 European ancestry children and adolescents	13q14.3	OLFM4	rs12429545-A	0.128	6E-9	(age 1-17)			Illumina [~ 2200000] (imputed)	N
997	chr13	54102205	54102206	rs12429545	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index	9,377 children and adolescents	3,918 European ancestry children and adolescents	13q14.3	OLFM4	rs12429545-A	0.128	1E-8	(age 8)	0.018	[0.012-0.024] unit increase	Illumina [~ 2200000] (imputed)	N
997	chr13	54102205	54102206	rs12429545	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q14.3	OLFM4	rs12429545-A	0.135	3E-13		0.032	[0.024-0.041] kg/m2 increase	Affymetrix, Illumina [2550021]	N
997	chr13	54102205	54102206	rs12429545	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q14.3	OLFM4	rs12429545-A	0.134	9E-8	(EA, women)	0.032	[0.02-0.044] kg/m2 increase	Affymetrix, Illumina [2550021]	N
997	chr13	54102205	54102206	rs12429545	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q14.3	OLFM4	rs12429545-A	0.133	2E-8	(EA, men)	0.035	[0.023-0.047] kg/m2 increase	Affymetrix, Illumina [2550021]	N
997	chr13	54102205	54102206	rs12429545	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q14.3	OLFM4	rs12429545-A	0.133	1E-12	(EA)	0.033	[0.024-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
997	chr13	54107351	54107352	rs9568867	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	13q14.3	OLFM4	rs9568867-A	0.23	4E-6		0.031	[0.018-0.044] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
997	chr13	54107351	54107352	rs9568867	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	13q14.3	OLFM4	rs9568867-A	0.13	2E-9	(Obesity class II)	1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
997	chr13	54131915	54131916	rs55949311	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	13q14.3	LINC00558	rs55949311-?	0.01	8E-9		9.7	[NR]	Affymetrix [4893794] (imputed)	N
998	chr13	54150906	54150907	rs7328626	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	13q14.3	LINC00558	rs7328626-?	0.01	8E-9		9.7	[NR]	Affymetrix [4893794] (imputed)	N
998	chr13	54258062	54258063	rs9596837	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	13q14.3	LINC00558	rs9596837-?	0.01	4E-9		10.1	[NR]	Affymetrix [4893794] (imputed)	N
999	chr13	54290332	54290333	rs2806731	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q14.3	OLFM4	rs2806731-G	0.202	5E-6	(Urinary free dopamine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
1000	chr13	54434646	54434647	rs9596863	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	13q14.3	LINC00558	rs9596863-G	0.01	8E-11		15.2	[NR]	Affymetrix [4893794] (imputed)	N
1000	chr13	54435236	54435237	rs6561750	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	13q14.3	NR	rs6561750-?	NR	9E-6		1.2266	[NR]	Affymetrix [722112]	N
1001	chr13	54581086	54581087	rs9536591	17434096	Matarin M	2007-05-06	Lancet Neurol	A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.	Stroke	259 European ancestry cases, 269 European ancestry controls	NA	13q14.3	intergenic	rs9536591-?	0.10	6E-6		1.92	[1.41-2.63]	Illumina [408803]	N
1001	chr13	54593716	54593717	rs73197788	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	13q14.3	NR	rs73197788-?	NR	2E-6	(Japanese)	0.7369	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1001	chr13	54633372	54633373	rs9596905	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	13q14.3	LINC00458	rs9596905-A	0.06	2E-6	(IGF2-DMR)			Illumina [515966]	N
1008	chr13	55489004	55489005	rs1116255	26114229	Ashley-Koch AE	2015-06-12	J Affect Disord	Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.	Post-traumatic stress disorder	949 non-Hispanic black individuals, 759 European ancestry individuals	NA	13q21.1	intergenic	rs1116255-?	NR	5E-6	EA	2.19	[NR]	Illumina [up to 5616481] (imputed)	N
1012	chr13	55984995	55984996	rs2315885	24001895	Kelly TN	2013-09-03	Hypertension	Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.	Blood pressure	22,275 East Asian ancestry individuals, 4,325 South East Asian ancestry individuals	28,783 East Asian ancestry individuals	13q21.1	MIR5007	rs2315885-T	0.06	2E-6	(PP)	1.41	[0.84-1.98] mm of mercury increase	Affymetrix, Illumina [~ 2400000] (imputed)	N
1013	chr13	56159008	56159009	rs9527419	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	13q21.1	intergenic	rs9527419-?		6E-6				NR [~ 3000000] (imputed)	N
1015	chr13	56378423	56378424	rs2997105	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	13q21.1	intergenic	rs2997105-?		4E-6				NR [~ 3000000] (imputed)	N
1018	chr13	56772695	56772696	rs1512651	20833655	Cha PC	2010-09-10	Hum Mol Genet	Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese.	Warfarin maintenance dose	807 Japanese ancestry low dose individuals, 701 Japanese ancestry high dose individuals	444 Japanese ancestry individuals	13q21.1	NR	rs1512651-?	NR	6E-6				Illumina [485227]	N
1018	chr13	56832271	56832272	rs1335882	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q21.1	NR	rs1335882-T	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1020	chr13	57119252	57119253	rs117093004	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	13q21.1	NR	rs117093004-?		5E-7	(PCB170)	1.64	[0.99-2.29] unit decrease	Illumina [8736858] (imputed)	N
1028	chr13	58114747	58114748	rs11840092	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	13q21.1	NR	rs11840092-C	0.16	2E-6		1.37	[1.23-1.51]	Illumina [4058415] (imputed)	N
1029	chr13	58257164	58257165	rs7997462	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	13q21.1	PCDH17	rs7997462-?	NR	2E-6		0.0299	[0.018-0.042] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
1032	chr13	58653694	58653695	rs9537938	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	13q21.1	intergenic	rs9537938-A	0.672	5E-7		0.023	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1032	chr13	58670146	58670147	rs9563576	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q21.1	PCDH17	rs9563576-C	0.813	5E-6	(EA)	0.018	[0.01-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1032	chr13	58670146	58670147	rs9563576	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q21.1	PCDH17	rs9563576-C	0.81	6E-6		0.017	[0.0098-0.0246] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1034	chr13	58904312	58904313	rs10492604	17903308	Gottlieb DJ	2007-09-19	BMC Med Genet	Genome-wide association of sleep and circadian phenotypes.	Sleep-related phenotypes	up to 738 individuals from 203 families	NA	13q21.1	intergenic	rs10492604-?	NR	4E-6	(Sleep duration)			Affymetrix [70897]	N
1036	chr13	59128525	59128526	rs4886088	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	13q21.1	PCDH17	rs4886088-A	0.80	8E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1042	chr13	59953465	59953466	rs12585963	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	13q21.2	TDRD3	rs12585963-A	0.312	2E-6		0.08	[0.047-0.113] cup size increase	Illumina [7422970] (imputed)	N
1044	chr13	60279545	60279546	rs7986704	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q21.2	NR	rs7986704-T	0.0562	4E-6	(Trans-16:1n-7, EA)	0.0051	[0.0029-0.0073] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1044	chr13	60279817	60279818	rs7987251	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	13q21.2	NR	rs7987251-T	0.0557	4E-6	(Trans-16:1n-7, EA)	0.0051	[0.0029-0.0073] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1051	chr13	61113738	61113739	rs4886238	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	13q21.2	TDRD3	rs4886238-A	0.334	1E-10		0.17	[0.12-0.22] years increase	Affymetrix, Illumina [2551160] (imputed)	N
1054	chr13	61513668	61513669	rs7337573	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	13q21.2	PCDH20	rs7337573-?	NR	2E-8	(levels)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
1054	chr13	61532596	61532597	rs1847505	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	13q21.2	NR	rs1847505-?		1E-6	(PCB170)	0.25	[0.15-0.35] unit increase	Illumina [8736858] (imputed)	N
1055	chr13	61678911	61678912	rs3106598	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	13q21.2	PCDH20	rs3106598-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1057	chr13	61965302	61965303	rs2323266	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	13q21.2	PCDH20	rs2323266-?	NR	3E-6	(Positive symptoms)	0.1032	[NR] unit decrease	Affymetrix [696491]	N
1060	chr13	62302564	62302565	rs9528384	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	13q21.2	PCDH20, TDRD3	rs9528384-G	0.29	1E-6	(PAR-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
1060	chr13	62302564	62302565	rs9528384	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	13q21.2	PCDH20, TDRD3	rs9528384-G	0.29	1E-6	(PAR-dr)			Affymetrix, Illumina [NR] (imputed)	N
1065	chr13	62930299	62930300	rs9563960	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	13q21.31	NR	rs9563960-G	0.296508162707306	4E-6	(IGP51)	0.1591	[0.092-0.226] unit increase	Illumina [~ 2500000] (imputed)	N
1065	chr13	62930299	62930300	rs9563960	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	13q21.31	NR	rs9563960-G	0.296353501567398	7E-6	(IGP11)	0.1546	[0.087-0.222] unit increase	Illumina [~ 2500000] (imputed)	N
1067	chr13	63284037	63284038	rs116571008	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	13q21.31	NR	rs116571008-?	NR	7E-7	(Latino)	1.0121	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1068	chr13	63394792	63394793	rs1335688	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	13q21.31	intergenic	rs1335688-C	0.153	1E-6		0.14	[0.081-0.199] unit increase	Illumina [2316178] (imputed)	N
1068	chr13	63436799	63436800	rs2204037	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	13q21.31	NR	rs2204037-A	0.39	5E-7		1.38	[0.85-1.91] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1069	chr13	63507481	63507482	rs79340079	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	13q21.31	NR	rs79340079-?	NR	3E-6	(Latino)	0.8904	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1070	chr13	63634349	63634350	rs9317284	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Bone mineral density	Up to 1,141 individuals from 241 families	NA	13q21.31	intergenic	rs9317284-?	NR	2E-7	(FNBMDm)			Affymetrix [70897]	N
1070	chr13	63638328	63638329	rs3119939	21907864	Ferreira MA	2011-09-10	Lancet	Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.	Asthma	12,475 European ancestry cases, 19,967 European ancestry controls	3,322 European ancestry cases, 22,036 European ancestry controls	13q21.31	PCDH20	rs3119939-?	0.51	8E-6		1.08	[1.04-1.10]	Illumina [NR] (imputed)	N
1071	chr13	63738723	63738724	rs73505772	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	13q21.31	NR	rs73505772-?	NR	3E-7	(Latino)	1.3909	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1073	chr13	64064587	64064588	rs1340490	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	13q21.31	intergenic	rs1340490-?		3E-6				NR [~ 3000000] (imputed)	N
1074	chr13	64141912	64141913	rs1000589	23180869	Wu C	2012-11-24	Gut	Genome-wide association study of survival in patients with pancreatic adenocarcinoma.	Pancreatic cancer	642 European ancestry cases	363 Chinese ancestry cases	13q21.31	intergenic	rs1000589-T	0.53	3E-6		1.27	[1.15-1.39]	Illumina [2731086] (imputed)	N
1074	chr13	64210397	64210398	rs4884502	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	13q21.31	OR7E156P	rs4884502-?		9E-6		0.32	[NR] unit increase	Illumina [430487]	N
1080	chr13	64891196	64891197	rs11148643	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	13q21.31	NR	rs11148643-?	NR	5E-7	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
1080	chr13	64930994	64930995	rs1340317	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	13q21.31	NR	rs1340317-?	NR	3E-7	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
1080	chr13	64936242	64936243	rs9571178	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	13q21.31	NR	rs9571178-?	NR	3E-7	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
1080	chr13	64945173	64945174	rs9598783	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	13q21.31	NR	rs9598783-?	NR	3E-7	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
1080	chr13	64946697	64946698	rs2220327	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	13q21.31	NR	rs2220327-?	NR	1E-7	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
1080	chr13	64950421	64950422	rs1340319	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	13q21.31	NR	rs1340319-?	NR	3E-7	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
1084	chr13	65494776	65494776	rs11454281	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	13q21.31	intergenic	rs11454281-?	NR	9E-6		0.6	[0.33-0.87] unit increase	Illumina [1075436] (imputed)	N
1085	chr13	65564030	65564031	rs9540294	25935106	Kim KW	2015-04-30	J Allergy Clin Immunol	Genome-wide association study of recalcitrant atopic dermatitis in Korean children.	Recalcitrant atopic dermatitis	246 Korean ancestry child cases, 551 Korean ancestry adult controls	NA	13q21.31	PCDH9	rs9540294-G	0.083	1E-8		2.655	[1.904-3.717]	Affymetrix [2501352] (imputed)	N
1089	chr13	66120783	66120784	rs1333026	17903300	Fox CS	2007-09-19	BMC Med Genet	Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.	Body mass index	1,341 European ancestry individuals from 310 families	NA	13q21.32	intergenic	rs1333026-?	NR	8E-6				Affymetrix [70897]	N
1090	chr13	66205703	66205704	rs9540493	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q21.32	MIR548X2	rs9540493-A	0.464	4E-9		0.018	[0.012-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1090	chr13	66205703	66205704	rs9540493	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q21.32	MIR548X2	rs9540493-A	0.456	1E-7	(EA)	0.017	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1090	chr13	66212019	66212020	rs11619878	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	13q21.32	NR	rs11619878-G	0.510985562333036	1E-7	(IGP15)	0.1632	[0.1-0.22] unit decrease	Illumina [~ 2500000] (imputed)	N
1091	chr13	66356340	66356341	rs17077331	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	13q21.32	PCDH9	rs17077331-?	NR	4E-6	(FEV1/FVC decline in non-asthmatics)	0.5048	[0.29-0.72] unit increase	Illumina [~ 2500000] (imputed)	N
1092	chr13	66481814	66481815	rs1585440	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	13q21.32	LOC387933	rs1585440-C	0.71	9E-6	(allelic)	1.3	[1.16-1.45]	Illumina [420236]	N
1094	chr13	66726902	66726903	rs17490056	25979521	de Jong K	2015-06-05	J Allergy Clin Immunol	Genome-wide interaction study of gene-by-occupational exposure and effects on FEV<sub>1</sub> levels.	Forced expiratory volume in 1 second (environmental interaction)	12,400 individuals	1,436 individuals	13q21.32	PCDH9	rs17490056-T	0.5	1E-6	Biological dust	133.8	[NR] unit decrease	Illumina [up to 221663]	N
1095	chr13	66967621	66967622	rs17081231	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	13q21.32	PCDH9	rs17081231-?	NR	7E-7	(weight)			Illumina [~ 550000]	N
1096	chr13	67043091	67043092	rs2027099	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	13q21.32	NR	rs2027099-?	NR	5E-6	(Native Hawaiian)	0.2073	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1097	chr13	67160680	67160681	rs11148708	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	13q21.32	PCDH9	rs11148708-?		3E-6				NR [~ 3000000] (imputed)	N
1101	chr13	67686839	67686840	rs9317639	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q21.32	NR	rs9317639-C	NR	5E-6		1.098901	[NR]	Illumina [7158791] (imputed)	N
1101	chr13	67696144	67696145	rs2875517	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	13q21.32	PCDH9	rs2875517-?	NR	3E-6	(DMFS3)			Illumina [518997]	N
1102	chr13	67889385	67889386	rs2991396	22633400	Kosova G	2012-05-23	Am J Hum Genet	Genome-wide association study identifies candidate genes for male fertility traits in humans.	Male fertility	269 Hutterite males	NA	13q21.32	PCDH9	rs2991396-G	0.15	4E-6	(Family size, additive model)			Affymetrix [248210]	N
1108	chr13	68572036	68572037	rs7318913	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	13q21.32	NR	rs7318913-G	0.049	4E-6		0.242	[0.14-0.34] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1115	chr13	69530663	69530664	rs2066219	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Diabetes related insulin traits	Up to 982 individuals	NA	13q21.33	intergenic	rs2066219-?	NR	9E-6	(ISI_0-120)			Affymetrix [70897]	N
1118	chr13	69919398	69919399	rs2593525	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q21.33	KLHL1	rs2593525-C	0.01	2E-6	(HDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1119	chr13	70023684	70023685	rs352236	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q21.33	KLHL1	rs352236-G	0.01	2E-6	(HDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1119	chr13	70086329	70086330	rs9572182	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	13q21.33	KLHL1, LOC100128625	rs9572182-T	0.499	4E-7	(Protein (control))			Affymetrix [590000]	N
1122	chr13	70430092	70430093	rs2325244	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	13q21.33	KLHL1	rs2325244-?	NR	8E-7	(SF3)			Affymetrix [5476100] (imputed)	N
1122	chr13	70454959	70454960	rs11843309	22085899	Chen G	2011-11-16	Eur J Hum Genet	UGT1A1 is a major locus influencing bilirubin levels in African Americans.	Bilirubin levels	619 African American individuals	NA	13q21.33	KLHL1	rs11843309-T	0.062	7E-6		0.212	[0.12-0.304] unit increase	Affymetrix [808465]	N
1122	chr13	70455660	70455661	rs7984606	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	13q21.33	KLHL1	rs7984606-?	0.01081	8E-6	(PAL6)			Illumina [475971]	N
1124	chr13	70658403	70658404	rs1550546	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	13q21.33	KLHL1, DACH1	rs1550546-T	0.57	4E-6	(VPWL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
1124	chr13	70719461	70719462	rs302010	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q21.33	NR	rs302010-G	NR	2E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1125	chr13	70810222	70810223	rs1928007	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		13q21.33	intergenic	rs1928007-A	0.91	5E-6		0.108	[0.061-0.155] unit decrease	Illumina [~ 2400000] (imputed)	N
1125	chr13	70846202	70846203	rs9572423	20125088	Shi J	2010-02-02	Mol Psychiatry	Genome-wide association study of recurrent early-onset major depressive disorder.	Major depressive disorder	1,020 European ancestry cases, 1,636 European ancestry controls	NA	13q21.33	intergenic	rs9572423-G	0.88	9E-6		1.54		Affymetrix [671424]	N
1128	chr13	71249528	71249529	rs186967887	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	13q21.33	NR	rs186967887-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
1129	chr13	71357989	71357990	rs139612726	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	13q21.33	NR	rs139612726-?	NR	8E-8	(Japanese)	0.8006	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1131	chr13	71595309	71595310	rs78319313	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	13q21.33	LINC00348	rs78319313-?	NR	3E-6		0.49	[0.27-0.71] unit increase	Illumina [1075436] (imputed)	N
1133	chr13	71883213	71883214	rs9592783	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	13q21.33	DACH1	rs9592783-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1134	chr13	72048095	72048096	rs9599848	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	13q21.33	DACH1	rs9599848-?		9E-6				Illumina [859311]	N
1135	chr13	72174352	72174353	rs9919839	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	13q21.33	DACH1	rs9919839-?	NR	2E-6	(Total LTG and PHT)			Illumina [NR]	N
1136	chr13	72345504	72345505	rs584480	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	13q21.33	DACH1	rs584480-T	0.40	9E-6		0.023	[0.013-0.033] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1136	chr13	72347695	72347696	rs626277	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	13q21.33	DACH1	rs626277-C	0.40	3E-11	(eGFRcrea)	0.01	[0.007-0.011] ml/min/1.73 m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1139	chr13	72688773	72688774	rs9652236	22889921	Stewart SE	2012-08-14	Mol Psychiatry	Genome-wide association study of obsessive-compulsive disorder.	Obsessive-compulsive disorder	1,279 European ancestry cases, 5,139 European ancestry controls, 299 European ancestry trios, 93 South African Afrikaner ancestry cases, 158  South African Afrikaner ancestry controls, 93 Ashkenazi Jewish cases, 260 Ashkenazi Jewish controls, 101 Hispanic and unknown ancestry trios	NA	13q21.33	DACH1, MZT1	rs9652236-?	NR	5E-6		1.4	NR	Illumina [479067]	N
1140	chr13	72768708	72768709	rs4083578	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	13q21.33	AL445923.10	rs4083578-?	0.2874	8E-6	(SWM strategy)			Illumina [475971]	N
1146	chr13	73559981	73559982	rs8002688	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (low sodium intervention)	1,850 Han Chinese ancestry individuals	660 Han Chinese ancestry individuals	13q22.1	PIBF1	rs8002688-T	0.04	2E-9	(SBP, response to intervention)	2.04	[1.37-2.71] mmHg increase	Affymetrix [2216774] (imputed)	N
1147	chr13	73728138	73728139	rs9600079	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	13q22.1	KLF5	rs9600079-T	NR	1E-6		1.1904762	[NR]	Illumina [4550396] (imputed)	N
1147	chr13	73728138	73728139	rs9600079	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	13q22.1	intergenic	rs9600079-T	0.38	3E-9		1.18	[1.12-1.24]	Illumina [510687]	N
1147	chr13	73741148	73741149	rs11838472	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		13q22.1	intergenic	rs11838472-?	0.031	3E-17			[NR]	Affymetrix, Illumina [152234]	N
1147	chr13	73764624	73764625	rs138128600	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	13q22.1	KLF5, KLF12	rs138128600-?	NR	2E-7		0.53	[0.33-0.73] unit increase	Illumina [1075436] (imputed)	N
1148	chr13	73908845	73908846	rs9573163	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	13q22.1	NR	rs9573163-G	0.43	5E-13		1.26	[1.18-1.34]	Affymetrix [666141]	N
1148	chr13	73916627	73916628	rs9543325	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	13q22.1	KLF5, KLF12	rs9543325-?	NR	2E-10		1.24	[1.16-1.32]	Illumina [866891] (imputed)	N
1148	chr13	73916627	73916628	rs9543325	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls	13q22.1	KLF12, KLF5	rs9543325-?	NR	4E-14		1.23	[1.18-1.30]	Illumina [608202]	N
1148	chr13	73916627	73916628	rs9543325	20101243	Petersen GM	2010-01-24	Nat Genet	A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.	Pancreatic cancer	3,851 European, Chinese and other ancestry cases, 3,934 European, Chinese and other ancestry controls	NA	13q22.1	KLF12, KLF5	rs9543325-C	0.37	3E-11		1.26	[1.18-1.35]	Illumina [551766]	N
1149	chr13	73932113	73932114	rs1886449	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	13q22.1	LOC730242	rs1886449-A	0.38	9E-6	(recessive)	1.51	[1.26-1.80]	Illumina [420236]	N
1149	chr13	74004375	74004376	rs9573194	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	13q22.1	KLF12	rs9573194-T	0.82	3E-6	(Right HG area)	2.52	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
1152	chr13	74325498	74325499	rs12877581	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q22.1	NR	rs12877581-C	NR	4E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
1152	chr13	74433806	74433807	rs4883955	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	13q22.1	KLF12	rs4883955	0.72	3E-6	(EA)	2.0	[NR]	Illumina [1795103]	N
1153	chr13	74513121	74513122	rs728926	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	13q22.1	KLF12	rs728926-T	0.362	2E-8		0.57	[0.37-0.77] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1153	chr13	74520185	74520186	rs1886512	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	13q22.1	KLF12	rs1886512-A	0.37	1E-8		0.4	[0.26-0.54] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1153	chr13	74556224	74556225	rs7339349	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	13q22.1	KLF12	rs7339349-T	0.106	8E-6	(Ordinal II)	0.3467	[0.19-0.5] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1154	chr13	74635587	74635588	rs1324913	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	13q22.1	KLF12	rs1324913-G	0.65	3E-10		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1155	chr13	74730391	74730392	rs8000245	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (rim area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	13q22.1	LOC730245	rs8000245-C	NR	8E-6		0.212	[0.090-0.334] unit increase	Illumina [~ 2740000] (imputed)	N
1155	chr13	74742321	74742322	rs12429889	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	13q22.1	intergenic	rs12429889-?	0.16	5E-20	(Recessive)	1.64	[1.48-1.81]	Affymetrix [319222]	N
1156	chr13	74920185	74920186	rs10492494	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	13q22.1	LINC00347, KLF12	rs10492494-?		5E-7	(M)	22.02	[13.1-30.94] unit decrease	Illumina [693128]	N
1157	chr13	74995659	74995660	rs17714988	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	13q22.1	hCG_1820717	rs17714988-G		3E-7	(AA)			Illumina [NR]	N
1158	chr13	75128113	75128114	rs17718828	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	13q22.1	KLF12	rs17718828-?	NR	1E-8	(levels)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
1163	chr13	75776267	75776268	rs548097	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	13q22.2	TBC1D4	rs548097-?	0.02	6E-7	(EA)	1.62	[1.00-2.63]	Affymetrix, Illumina [2478304] (imputed)	N
1165	chr13	76136647	76136648	rs9543976	23562823	Sheu WH	2013-04-19	Hum Mol Genet	Genome-wide association study in a Chinese population with diabetic retinopathy.	Diabetic retinopathy	437 Chinese ancestry cases, 570 Chinese ancestry controls	329  Hispanic cases, 256 Hispanic controls	13q22.2	TBC1D4, COMMD6, UCHL3	rs9543976-G	0.30	7E-6		1.6	[NR]	Illumina [~ 2166765] (imputed)	N
1166	chr13	76249102	76249103	rs11841001	23761726	Yazar S	2013-06-06	Mol Vis	Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.	Corneal astigmatism	2,784 European ancestry individuals		13q22.2	NR	rs11841001-A	NR	4E-6		0.208	[0.12-0.30] unit increase	Illumina [~ 2500000] (imputed)	N
1167	chr13	76326281	76326282	rs539514	21980299	Bradfield JP	2011-09-29	PLoS Genet	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Type 1 diabetes	9,934 European ancestry cases, 16,956 European ancestry controls	1,120 European ancestry affected trios	13q22.2	LMO7	rs539514-?	0.50	6E-11		1.43	[NR]	Affymetrix, Illumina [~ 2540000] (imputed)	N
1176	chr13	77464008	77464009	rs17066873	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio)	Up to 185 European ancestry cases	NA	13q22.3	intergenic	rs17066873-C	0.039	2E-7		0.9277	[NR] unit decrease	Affymetrix [686595]	N
1176	chr13	77516575	77516576	rs589636	25060954	Wolber LE	2014-07-24	Hum Mol Genet	Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.	Hearing function	1,022 European ancestry individuals, 280 Carlantino individuals, 1,097 Friuli Venezia Giulia individuals, 804 Korkula individuals, 497 Split individuals, 421 Cilento individuals, 470 Talana individuals, 348 Silk Road individuals	NA	13q22.3	IRG1, BTF3L1, LOC390413	rs589636-C	NR	7E-8	(PC1)			Affymetrix, Illumina [> 2300000] (imputed)	N
1176	chr13	77552270	77552271	rs11149058	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	13q22.3	Mir_633, MYCBP2, KCTD12, FBXL3, DKFZp586G0322, CLN5, BTF3P11, IRG1	rs11149058-T	0.78	1E-6		1.22	[NR]	Illumina [7659573] (imputed)	N
1179	chr13	77879375	77879376	rs7322722	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	13q22.3	MYCBP2	rs7322722-?	NR	1E-6	(EA)	2.93	[1.90-4.52]	Illumina [2485249] (imputed)	N
1180	chr13	78021217	78021218	rs7317940	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Age of smoking initiation	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	13q22.3	NR	rs7317940-?		2E-6				Illumina [1211988] (imputed)	N
1183	chr13	78381145	78381146	rs975739	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Hair color	7,070 European ancestry individuals	4,155 European ancestry individuals	13q22.3	EDNRB	rs975739-G	NR	2E-14		0.08	[0.060-0.100] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
1186	chr13	78808913	78808914	rs9574199	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	13q22.3	EDNRB, POU4F1	rs9574199-?	NR	7E-6		0.004	[NR] unit increase	Illumina [478011]	N
1187	chr13	79025786	79025787	rs9318552	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Diastolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	13q22.3	RNF219-AS1	rs9318552-T	0.79	5E-8	(Oz alcohol/week)	0.389	[0.25-0.53] unit increase	Affymetrix [2500000] (imputed)	N
1188	chr13	79155611	79155612	rs1409005	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	13q31.1	POU4F1-AS1	rs1409005-T	0.2	5E-7	(AA)	0.25	[0.15-0.35] unit increase	Illumina [up to 905285]	N
1189	chr13	79238924	79238925	rs4304924	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Large artery stroke	2,167 cases, 49,159 controls	NA	13q31.1	RNF219	rs4304924-G		5E-6		1.1765	[1.1-1.27]	Affymetrix, Illumina [~ 2400000] (imputed)	N
1190	chr13	79359423	79359424	rs17070284	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	13q31.1	RP11-600P1.2	rs17070284-?	NR	3E-6	(COWA)			Illumina [up to 563855]	N
1190	chr13	79380815	79380816	rs2184180	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	13q31.1	NR	rs2184180-G	0.362504259025271	5E-6	(IGP52)	0.1637	[0.093-0.234] unit increase	Illumina [~ 2500000] (imputed)	N
1190	chr13	79382100	79382101	rs9574309	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	13q31.1	NR	rs9574309-C	0.432876341880342	2E-6	(IGP12)	0.1596	[0.093-0.226] unit increase	Illumina [~ 2500000] (imputed)	N
1190	chr13	79410573	79410574	rs11838918	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	13q31.1	intergenic	rs11838918-C	0.066	3E-7	(AA)	0.278	[NR] unit increase	Illumina [948658]	N
1190	chr13	79410573	79410574	rs11838918	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	13q31.1	intergenic	rs11838918-C	0.022	1E-8		0.28	[NR] unit increase	Illumina [948658]	N
1190	chr13	79410573	79410574	rs11838918	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	13q31.1	intergenic	rs11838918-C	0.022	3E-6		2.26	[1.61-3.18]	Illumina [948658]	N
1191	chr13	79455831	79455832	rs1218282	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	13q31.1	LOC390415, LOC647298, C13orf7	rs1218282-C	0.06	5E-6	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
1191	chr13	79550933	79550934	rs7319358	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	13q31.1	intergenic	rs7319358-A	NR	3E-6	(Analysis II)			Illumina [313720]	N
1192	chr13	79580918	79580919	rs1441264	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q31.1	MIR548A2	rs1441264-A	0.613	3E-8		0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1192	chr13	79580918	79580919	rs1441264	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q31.1	MIR548A2	rs1441264-A	0.609	6E-8	(EA)	0.018	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1194	chr13	79859455	79859456	rs9545047	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q31.1	NR	rs9545047-A	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1194	chr13	79888475	79888476	rs1155848	20014019	Dubinsky MC	2010-08-01	Inflamm Bowel Dis	Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.	Response to anti-TNF alpha therapy in inflammatory bowel disease	94 pediatric cases	NA	13q31.1	RBM26	rs1155848-?	NR	5E-7		35.73	[NR]	Illumina [301742]	N
1196	chr13	80169003	80169004	rs9601248	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	13q31.1	NDFIP2	rs9601248-C	0.498	2E-6	(remission - 12 weeks)	1.3841	[1.25-1.52]	Affymetrix, Illumina [1200000] (imputed)	N
1197	chr13	80299721	80299722	rs2039553	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	13q31.1	NDFIP2	rs2039553-A	0.27	7E-6	(recessive)	1.73	[1.36-2.19]	Illumina [420236]	N
1199	chr13	80551562	80551563	rs9531006	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	13q31.1	SPRY2	rs9531006-?	NR	4E-7	(EA)	2.43	[1.49-3.37] unit increase	Affymetrix, Illumina [2033301]	N
1200	chr13	80623345	80623346	rs7981942	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	13q31.1	SPRY2	rs7981942-?		2E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
1200	chr13	80644617	80644618	rs12431307	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q31.1	intergenic	rs12431307-G	0.412	5E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1200	chr13	80668873	80668874	rs9574565	20023658	Mangold E	2009-12-20	Nat Genet	Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.	Orofacial clefts	399 European ancestry cases, 1,318 European ancestry controls	655 European ancestry triads	13q31.1	SPRY2	rs9574565-C	0.74	3E-7		1.31	[1.01-1.70]	Illumina [521288]	N
1200	chr13	80692810	80692811	rs8001641	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	13q31.1	SPRY2	rs8001641-A	NR	9E-11	(Meta-All, NSCLP)	1.354	[1.141-1.607]	NR [497084]	N
1200	chr13	80692810	80692811	rs8001641	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	13q31.1	SPRY2	rs8001641-A	NR	3E-10	(Meta-All, NSCL/P)	1.307	[1.13-1.511]	NR [497084]	N
1200	chr13	80717155	80717156	rs1359790	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	13q31.1	SPRY2	rs1359790-G	0.73	6E-6		1.1	[1.05-1.14]	Affymetrix, Illumina [2500000] (imputed)	N
1200	chr13	80717155	80717156	rs1359790	20862305	Shu XO	2010-09-16	PLoS Genet	Identification of new genetic risk variants for type 2 diabetes.	Type 2 diabetes	1,019 Chinese ancestry cases, 1,710 Chinese ancestry controls	2,591 European ancestry cases, 3,052 European ancestry controls, 6,184 East Asian cases, 9,853 East Asian controls	13q31.1	SPRY2	rs1359790-G	0.71	6E-9		1.15	[1.10-1.20]	Affymetrix [590887]	N
1201	chr13	80845640	80845641	rs171156	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	13q31.1	NR	rs171156-?		1E-7	(PCB180)	0.62	[0.38-0.86] unit decrease	Illumina [8736858] (imputed)	N
1202	chr13	80959206	80959207	rs534870	21706003	Kilpelainen TO	2011-06-26	Nat Genet	Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.	Adiposity	29,069 European ancestry individuals, 7,557 Indian Asian ancestry individuals	39,576 European ancestry individuals	13q31.1	SPRY2	rs534870-A	0.68	7E-8		0.03	[NR] % decrease	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
1203	chr13	81062940	81062941	rs1930336	24792382	Park TJ	2014-04-30	Clin Chim Acta	Genome-wide association study identifies ALLC polymorphisms correlated with FEV&#x02081; change by corticosteroid.	Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)	189 Korean ancestry cases	NA	13q31.1	SPRY2	rs1930336-?		3E-6		0.346	[NR] unit increase	Illumina [430487]	N
1205	chr13	81357670	81357671	rs11149178	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	13q31.1	intergenic	rs11149178-A	0.3560899	7E-6	(% improvement - SSRI treated - 12 weeks)	0.1777	[0.1-0.26] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
1207	chr13	81550448	81550449	rs6563199	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	13q31.1	SPRY2	rs6563199-T	0.352	1E-8		0.018	[0.012-0.024] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1211	chr13	82075591	82075592	rs9545740	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q31.1	intergenic	rs9545740-A	0.408	7E-7	(TNF-a )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1215	chr13	82581441	82581442	rs1497062	26194203	Ramachandran D	2015-07-20	G3 (Bethesda)	Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.	Atrioventricular septal defects in Down syndrome	210 European ancestry cases with atrioventricular septal defects, 242 European ancestry cases with normal hearts	NA	13q31.1	NR	rs1497062-?	NR	5E-6		1.946	[1.46-2.59]	Affymetrix [606195]	N
1216	chr13	82716162	82716163	rs1475622	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	13q31.1	intergenic	rs1475622-C		6E-6		221.18	[125.49-316.87] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
1226	chr13	84130231	84130232	rs6563353	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	13q31.1	intergenic	rs6563353-A	0.177	2E-6	(EA + AA - GSE)			Affymetrix [421789]	N
1226	chr13	84131395	84131396	rs34073438	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	13q31.1	SLITRK1	rs34073438-A	0.21	5E-6	(Left HG thickness)	0.0401	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1233	chr13	85032326	85032327	rs17371334	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	13q31.1	SLITRK1	rs17371334-?	NR	2E-6	(Cyclothymic)	1.05	[NR] unit decrease	Affymetrix [703012]	N
1233	chr13	85054265	85054266	rs9546711	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Coronary heart disease	260 African American cases, 5,053 African American controls	621 African American cases, 1,629 African American controls	13q31.1	intergenic	rs9546711-A	0.42	2E-6		1.66	[1.35-2.04]	Affymetrix [~ 2740000] (imputed)	N
1235	chr13	85251711	85251712	rs9319064	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q31.1	LOC387939	rs9319064-A	0.0060	3E-6	(Arm span )	0.03	[NR] cm increase	Illumina [899892]	N
1235	chr13	85293111	85293112	rs11617058	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q31.1	NR	rs11617058-T	NR	10E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
1237	chr13	85549735	85549736	rs9531686	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	13q31.1	intergenic	rs9531686-T	0.571	9E-6		0.038	[0.022-0.054] unit decrease	Illumina [6150213] (imputed)	N
1238	chr13	85665878	85665879	rs17079247	23326512	Greenwood TA	2013-01-10	PLoS One	Genome-wide association study of irritable vs. elated mania suggests genetic differences between clinical subtypes of bipolar disorder.	Bipolar disorder (mania)	117 European ancestry Irritable mania cases, 843 European ancestry Elated mania cases, 1033 European ancestry controls	121 European ancestry Irritable maniacases, 1026 European ancestry Elated mania cases	13q31.1	SLITRK1, SLITRK6	rs17079247-T	NR	8E-6	(IM vs. EM)	1.75		Affymetrix [703012]	N
1241	chr13	86104088	86104089	rs4482178	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	13q31.1	SLITRK1	rs4482178-?		2E-7				Illumina [859311]	N
1246	chr13	86690526	86690527	rs7984869	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (fairness)	9,617 European ancestry individuals	NA	13q31.1	intergenic	rs7984869-T	NR	3E-6		0.115	[0.066-0.164] unit increase	Illumina [628922]	N
1250	chr13	87242856	87242857	rs4773460	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	13q31.1	intergenic	rs4773460-?	NR	2E-6				Illumina [516645]	N
1253	chr13	87675071	87675072	rs9589866	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	13q31.1	LOC100130117, hCG_1795283	rs9589866-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1261	chr13	88704705	88704706	rs7323893	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	13q31.2	intergenic	rs7323893-T	0.91	1E-7		0.136	[0.086-0.186] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1262	chr13	88762345	88762346	rs969962	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	13q31.2	AL354896.16	rs969962-?	0.1398	9E-6	(PAL8)			Illumina [475971]	N
1271	chr13	90014488	90014489	rs7995618	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Plasma clusterin levels	521 Alzheimer's disease cases, 297 controls	NA	13q31.2	LOC160824	rs7995618-?		4E-6				Illumina [5970354] (imputed)	N
1276	chr13	90622454	90622455	rs2882281	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	13q31.3	RP11-388D4.1	rs2882281-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1278	chr13	90865545	90865546	rs16944141	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	13q31.3	MIR622	rs16944141-?	NR	3E-6	(rs1512268)	1.5385	[1.28-1.85]	Affymetrix, Illumina [1117531] (imputed)	N
1279	chr13	91057758	91057759	rs80092143	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Gait rhythm	2,946 individuals	NA	13q31.3	MIR622	rs80092143-C	0.89	7E-7	(Single support time)	0.0065	[0.004-0.009] unit decrease	Illumina [6200000] (imputed)	N
1284	chr13	91732769	91732770	rs61970269	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	13q31.3	intergenic	rs61970269-T	NR	3E-6		0.2234	unit increase	Illumina [5767231] (imputed)	N
1287	chr13	92015976	92015977	rs8002779	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	13q31.3	GPC5	rs8002779-A	0.48	3E-6		0.05	[0.03-0.07] cm decrease	Illumina [420885]	N
1287	chr13	92024573	92024574	rs7319045	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	13q31.3	GPC5	rs7319045-A	0.47	1E-10		0.029	[0.017-0.041] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1287	chr13	92024573	92024574	rs7319045	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	13q31.3	GPC5	rs7319045-A	0.392	8E-15		0.024	[0.018-0.03] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1287	chr13	92024573	92024574	rs7319045	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	13q31.3	GPC5	rs7319045-A	0.4	1E-11		0.025	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1288	chr13	92203812	92203813	rs16946160	21441931	Okamoto K	2011-03-27	Nat Genet	Common variation in GPC5 is associated with acquired nephrotic syndrome.	Nephrotic syndrome (acquired)	195 Japanese ancestry cases, 1,546 Japanese ancestry controls	662 Japanese ancestry cases, 4,919 Japanese ancestry controls	13q31.3	GPC5	rs16946160-A	0.17	3E-7		1.39	[1.22-1.57]	Perlegen [205203]	N
1290	chr13	92445228	92445229	rs2352028	20304703	Li Y	2010-03-19	Lancet Oncol	Genetic variants and risk of lung cancer in never smokers: a genome-wide association study.	Lung cancer	364 European ancestry cases, 364 European ancestry controls, 13 cases, 13 controls	446 European ancestry cases, 853 European ancestry controls, 65 cases, 154 controls	13q31.3	GPC5	rs2352028-A	0.26	6E-6		1.46	[1.26-1.70]	Illumina [331918]	N
1290	chr13	92501663	92501664	rs7328464	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q31.3	GPC5	rs7328464-A	0.053	5E-6	(Sedentary activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1290	chr13	92501663	92501664	rs7328464	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q31.3	GPC5	rs7328464-A	0.053	4E-7	(Sedentary activity )	0.04	[NR] %awake time increase	Illumina [899892]	N
1294	chr13	92988322	92988323	rs7982677	23297363	Cordell HJ	2013-01-07	Hum Mol Genet	Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.	Tetralogy of Fallot	835 European ancestry cases, 5,159 European ancestry controls	798 European ancestry cases, 2,931 European ancestry controls	13q31.3	GPC5	rs7982677-A	0.281	3E-9		1.288	[1.152-1.441]	Illumina [516131]	N
1295	chr13	93088650	93088651	rs4771859	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	13q31.3	GPC5	rs4771859-G	0.709	1E-6	(Recessive model)	1.328	[1.088-1.623]	Illumina [733202]	N
1296	chr13	93213475	93213476	rs1413191	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	13q31.3	GPC5	rs1413191-?	0.18	5E-6				Illumina [1212217]	N
1296	chr13	93323145	93323146	rs17267292	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	13q31.3	GPC5	rs17267292-?	0.28	1E-7	(Docosahexaonic acid)			Affymetrix [187454]	N
1297	chr13	93331885	93331886	rs9523762	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	13q31.3	GPC5	rs9523762-?	0.35	1E-6		1.36	[NR]	Illumina [551642]	N
1298	chr13	93581790	93581791	rs9523848	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	13q31.3	GPC6	rs9523848-T	0.293	3E-6		0.081	[0.048-0.114] cup size decrease	Illumina [7422970] (imputed)	N
1300	chr13	93729284	93729285	rs9561252	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	13q31.3	GPC6, GPC5	rs9561252-?	NR	6E-7	(SBP,CPD)			Affymetrix [2485435] (imputed)	N
1300	chr13	93729284	93729285	rs9561252	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	13q31.3	GPC6, GPC5	rs9561252-?	NR	2E-6	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1300	chr13	93832878	93832879	rs319564	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	13q31.3	GPC6	rs319564-C	0.4567	8E-6	(men)	0.0218	[0.012-0.031] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1300	chr13	93832878	93832879	rs319564	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	13q31.3	GPC6	rs319564-C	0.4499	2E-6	(EA, men)	0.0238	[0.014-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1301	chr13	93879030	93879031	rs7985891	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	13q31.3	GPC6	rs7985891-?		2E-7	(EA)	38.2	[NR]	Illumina [936149]	N
1301	chr13	93938705	93938706	rs11839514	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	13q31.3	GPC6	rs11839514-G	0.34	4E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1301	chr13	93945857	93945858	rs143258881	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		13q31.3	GPC6	rs143258881-?	0.03	7E-8		0.29	unit decrease	Illumina [NR] (imputed)	N
1302	chr13	94011168	94011169	rs9561329	20634892	Calboli FC	2010-07-09	PLoS One	A genome-wide association study of neuroticism in a population-based sample.	Neuroticism	2,235 European ancestry individuals	NA	13q31.3	GPC6	rs9561329-?	0.09	1E-7	(age interaction)	0.17	[0.11-0.23] unit decrease	Affymetrix [1705237] (imputed)	N
1303	chr13	94208648	94208649	rs190494527	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	13q31.3	NR	rs190494527-G	0.102	7E-6		0.175	[0.099-0.251] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1303	chr13	94233128	94233129	rs7998314	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q31.3	GPC6	rs7998314-A	0.487	7E-7	(Energy storage )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1303	chr13	94233128	94233129	rs7998314	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q31.3	GPC6	rs7998314-A	0.487	4E-7	(Fat mass deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1303	chr13	94233128	94233129	rs7998314	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q31.3	GPC6	rs7998314-A	0.487	4E-7	(Fat mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
1304	chr13	94341095	94341096	rs9561428	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	13q31.3	NR	rs9561428-?	NR	9E-6		1.8346	[NR]	Affymetrix [722112]	N
1305	chr13	94408505	94408506	rs7995215	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	13q31.3	GPC6	rs7995215-?	NR	1E-8				Affymetrix [504219]	N
1305	chr13	94426352	94426353	rs9584154	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q31.3	NR	rs9584154-A	NR	3E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
1308	chr13	94870764	94870765	rs1572050	22044751	Foster MC	2011-11-01	BMC Med Genet	Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.	Renal sinus fat	2,809 European ancestry individuals	NA	13q31.3	GPC6	rs1572050-A	0.10	6E-6		0.313	[0.18-0.45] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1309	chr13	94952831	94952832	rs9301951	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	13q31.3	GPC6	rs9301951-C	0.04	9E-7		0.26	[0.15-0.37] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
1312	chr13	95388116	95388117	rs184488877	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	13q32.1	NR	rs184488877-A	0.007	2E-6		0.89	[-0.18048-0.55648] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1313	chr13	95463391	95463392	rs9302001	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	13q32.1	intergenic	rs9302001-?	0.20	3E-7				Affymetrix [253903]	N
1313	chr13	95505261	95505262	rs11070098	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q32.1	intergenic	rs11070098-G	0.204	8E-6	(Fat mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
1313	chr13	95505261	95505262	rs11070098	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q32.1	intergenic	rs11070098-G	0.204	5E-6	(Fat mass deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1313	chr13	95517621	95517622	rs2209852	24571439	Nudel R	2014-02-26	Genes Brain Behav	Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.	Parent of origin effect on language impairment (paternal)	153 European ancestry case-parent trios, 54 European ancestry case-mother duos, 12 European ancestry case-father duos, 18 European ancestry cases	NA	13q32.1	LOC100129259, ABCC4	rs2209852-?		6E-6				Illumina [614937]	N
1314	chr13	95680284	95680285	rs4148546	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	13q32.1	ABCC4	rs4148546-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1315	chr13	95775431	95775432	rs16950650	23478653	Han JY	2013-03-12	Pharmacogenomics J	A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.	Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer	139 individuals	NA	13q32.1	ABCC4	rs16950650-T	NR	2E-7	(Dominant model)	30.2	[8.4-109.0]	Affymetrix [334127]	N
1316	chr13	95815534	95815535	rs3765535	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	13q32.1	ABCC4	rs3765535-G	0.097	7E-6	(O'Connor Slope)	0.065	[NR] unit increase	Illumina [546355]	N
1316	chr13	95874955	95874956	rs1926657	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Breast cancer	58 cases, 665 controls	NA	13q32.1	ABCC4	rs1926657-?	NR	2E-6				Affymetrix [70897]	N
1316	chr13	95898206	95898207	rs4148441	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	13q32.1	ABCC4	rs4148441-G	NR	7E-12		4.117	[2.94-5.29] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1316	chr13	95922764	95922765	rs8002180	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	13q32.1	ABCC4	rs8002180-T	0.72	8E-23	(X-12244--N-acetylcarnosine)	0.024	[0.02-0.028] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1317	chr13	95971015	95971016	rs9302065	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	13q32.1	ABCC4	rs9302065-A	0.37	1E-19	(X-12244--N-acetylcarnosine)	0.022	[0.018-0.026] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1318	chr13	96145378	96145379	rs35058679	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q32.1	NR	rs35058679-T	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1319	chr13	96300871	96300872	rs12428035	25350695	Postmus I	2014-10-28	Nat Commun	Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.	Response to statins (LDL cholesterol change)	18,596 European ancestry individuals	23,279 European ancestry individuals	13q32.1	DZIP1	rs12428035-T	0.110	8E-7		0.013	[0.0071-0.0189] unit decrease	Affymetrix, Illumina, Perlegen [at least 2500000] (imputed)	N
1324	chr13	96951432	96951433	rs2038823	21310492	Huang YC	2011-02-08	Ophthalmology	Genome-wide association study of diabetic retinopathy in a Taiwanese population.	Diabetic retinopathy	174 Han Chinese ancestry Type 2 diabetes cases, 575 Han Chinese ancestry Type 2 diabetes controls, 100 Han Chinese ancestry non-diabetic controls	NA	13q32.1	HS6ST3	rs2038823-C	NR	5E-11				Illumina [~ 550000]	N
1325	chr13	97012354	97012355	rs9554348	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q32.1	NR	rs9554348-T	NR	3E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1325	chr13	97017547	97017548	rs7989336	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	13q32.1	HS6ST3	rs7989336-A	0.47	1E-8	(Obesity II)	1.1	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1325	chr13	97049003	97049004	rs9634489	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q32.1	HS6ST3	rs9634489-G	0.502	1E-6		0.015	[0.0087-0.0209] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1325	chr13	97049003	97049004	rs9634489	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q32.1	HS6ST3	rs9634489-G	0.499	2E-6	(EA, men)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1325	chr13	97049003	97049004	rs9634489	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	13q32.1	HS6ST3	rs9634489-G	0.497	4E-7	(EA)	0.016	[0.01-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1326	chr13	97166482	97166483	rs117358016	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q32.1	NR	rs117358016-A	NR	8E-6		1.16	[NR]	Illumina [7158791] (imputed)	N
1328	chr13	97508738	97508739	rs16953622	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	13q32.1	HS6ST3	rs16953622-T	0.015	7E-6	(3MSE)	6.9917	[3.97-10.01] unit decrease	Affymetrix [> 371951] (imputed)	N
1332	chr13	98016415	98016416	rs9556711	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol use disorder factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	13q32.1	MBNL2	rs9556711-G	0.08	2E-6		0.163	[NR] unit decrease	Illumina [~ 300000]	N
1332	chr13	98016415	98016416	rs9556711	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol dependence factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	13q32.1	MBNL2	rs9556711-G	0.08	8E-7		0.167	[NR] unit decrease	Illumina [~ 300000]	N
1333	chr13	98053791	98053792	rs4771996	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q32.1	MBNL2	rs4771996-G	0.232	6E-6	(Arm span )	0.03	[NR] cm increase	Illumina [899892]	N
1334	chr13	98200571	98200572	rs2770228	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	13q32.2	LOC121906	rs2770228-A		9E-6		0.08	[0.05-0.12] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1334	chr13	98203726	98203727	rs349114	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q32.2	LOC121906	rs349114-A	0.224	3E-6	(Arm span )	0.03	[NR] cm increase	Illumina [899892]	N
1337	chr13	98575842	98575843	rs9517132	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	13q32.2	RANBP5	rs9517132-?	NR	3E-6	(EA)	2.62	[1.52-3.72] unit decrease	Affymetrix, Illumina [2033301]	N
1338	chr13	98700616	98700617	rs16954776	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	13q32.2	IPO5	rs16954776-A	0.0156	9E-7		5.1206	[NR] unit decrease	Illumina [1216189] (imputed)	N
1338	chr13	98827034	98827035	rs285098	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	13q32.2	intergenic	rs285098-?	0.67	7E-6		1.05	[1.03-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1339	chr13	98831594	98831595	rs9556893	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	13q32.2	FARP1	rs9556893-?	NR	6E-6	(SF6)			Affymetrix [5476100] (imputed)	N
1339	chr13	98866995	98866996	rs9513373	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	13q32.2	FARP1, RNF113B, MIR3170	rs9513373-C	0.02	8E-6		4.18	[3.55-4.81]	Illumina [8809853] (imputed)	N
1340	chr13	98960761	98960762	rs4318070	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	13q32.2	FARP1	rs4318070-?	NR	7E-6		0.004	[NR] unit decrease	Illumina [478011]	N
1340	chr13	98966316	98966317	rs688872	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	13q32.2	FARP1	rs688872-?	0.38	1E-6				Illumina [448293]	N
1340	chr13	98994029	98994030	rs9584805	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	13q32.2	FARP1	rs9584805-G	0.35	2E-6		0.44	[NR] unit decrease	Illumina [324623]	N
1341	chr13	99096033	99096034	rs9517302	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q32.2	FARP1	rs9517302-A	0.342	5E-6	(Sedentary&light activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1341	chr13	99111208	99111209	rs3783006	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	13q32.2	STK24, FARP1, SLC15A1	rs3783006-C	0.457	3E-7		0.023	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1341	chr13	99111208	99111209	rs3783006	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 101,069 European ancestry individuals	25,490 European ancestry individuals	13q32.2	STK24	rs3783006-C	0.454	8E-8	(Edu Years)	0.088	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)	N
1341	chr13	99126302	99126303	rs9517320	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	13q32.2	STK24	rs9517320-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1341	chr13	99131293	99131294	rs912330	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	13q32.2	STK24	rs912330-?	NR	4E-6		1.85	[1.43-2.44]	Illumina [2505093] (imputed)	N
1343	chr13	99385989	99385990	rs9582259	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	13q32.3	SLC15A1	rs9582259-C		3E-8	(EA)			Illumina [NR]	N
1346	chr13	99774646	99774647	rs11069349	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	13q32.3	intergenic	rs11069349-A	0.2066	5E-6		0.0677	[0.039-0.097] unit decrease	Illumina [2400000] (imputed)	N
1347	chr13	99907340	99907341	rs3742130	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q32.3	NR	rs3742130-G	0.78	6E-7	(EA)	1.0792593		Affymetrix, Illumina [~ 9000000] (imputed)	N
1347	chr13	99907340	99907341	rs3742130	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q32.3	NR	rs3742130-G	0.78	9E-13	(EA)	1.0902634		Affymetrix, Illumina [~ 9000000] (imputed)	N
1347	chr13	99907340	99907341	rs3742130	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q32.3	NR	rs3742130-A	0.78	1E-10	(EA)	1.0992312		Affymetrix, Illumina [~ 9000000] (imputed)	N
1347	chr13	99956621	99956622	rs9557195	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	13q32.3	GPR183, GPR18	rs9557195-T	0.772	2E-14		1.112	[1.075-1.151]	Affymetrix, Illumina [1230000] (imputed)	N
1348	chr13	100036417	100036418	rs9557207	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	13q32.3	NR	rs9557207-?	NR	4E-13	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1348	chr13	100041737	100041738	rs7335046	21700618	Nan H	2011-06-23	Hum Mol Genet	Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.	Basal cell carcinoma	2,045 European ancestry cases, 6,013 European ancestry controls	1,426 cases, 4,845 controls	13q32.3	UBAC2	rs7335046-G	0.12	3E-8		1.26	[1.18-1.34]	Affymetrix, Illumina [2318094] (imputed)	N
1349	chr13	100196951	100196952	rs9513627	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q32.3	TM9SF2	rs9513627-G	0.057	4E-6	(DBP )	0.03	[NR] mmHg increase	Illumina [899892]	N
1351	chr13	100456511	100456512	rs75327846	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	13q32.3	NR	rs75327846-?	NR	1E-6	(Native Hawaiian)	0.9315	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1351	chr13	100493159	100493160	rs9513675	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q32.3	CLYBL	rs9513675-G	0.464	5E-6	(Hip circumference change )	0.03	[NR] cm/y increase	Illumina [899892]	N
1351	chr13	100518633	100518634	rs41281112	22367966	Lin X	2012-02-24	Hum Mol Genet	Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.	Vitamin B12 levels	1,999 Han Chinese ancestry individuals	1,496 Chinese ancestry individuals	13q32.3	CLYBL	rs41281112-?	NR	9E-10		83.6	[56.90-110.30] pg/ml decrease	Illumina [1940245] (imputed)	N
1351	chr13	100521100	100521101	rs9557321	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	13q32.3	CLYBL	rs9557321-?		6E-8		1.73	[NR]	Illumina [452367]	N
1352	chr13	100555037	100555038	rs7992643	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	13q32.3	CLYBL	rs7992643-?	NR	5E-6	(count)			Perlegen [429981]	N
1352	chr13	100638391	100638392	rs13542	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	13q32.3	NR	rs13542-?	NR	1E-6	(Meta-All, NSCL/P)			NR [497084]	N
1352	chr13	100648098	100648099	rs1347190	25233373	Simpson CL	2014-09-18	PLoS One	Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.	Hyperopia	7,068 European ancestry cases, 6,844 European ancestry controls	1,554 European ancestry cases, 892 cases, 1,654 European ancestry controls, 2,921 controls	13q32.3	ZIC2, ZIC5	rs1347190-?		7E-6				Affymetrix, Illumina [up to 3397980] (imputed)	N
1353	chr13	100734523	100734524	rs59876823	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	13q32.3	NR	rs59876823-?	NR	7E-9	(Japanese)	0.9446	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1354	chr13	100818091	100818092	rs2184971	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	13q32.3	PCCA, ZIC2	rs2184971-G	0.44	2E-8		0.085	[0.056-0.114] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1360	chr13	101708309	101708310	rs2044117	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	13q32.3	NALCN	rs2044117-?	NR	5E-7		1.3006	[NR]	Affymetrix [722112]	N
1363	chr13	102000944	102000945	rs7996217	22628157	Levine AJ	2012-05-24	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults.	HIV-associated dementia	1,287 European ancestry HIV-infected male individuals	NA	13q33.1	NALCN	rs7996217-T	NR	7E-7	(SPEED)			Illumina [~ 2500000] (imputed)	N
1363	chr13	102051089	102051090	rs9557635	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	13q33.1	NALCN	rs9557635-A	0.146	9E-6	(Additive model)			Affymetrix [271817]	N
1363	chr13	102060075	102060076	rs1572591	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	13q33.1	ITGBL1, NALCN	rs1572591-?		3E-6				Affymetrix [545513]	N
1364	chr13	102145559	102145560	rs1335587	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q33.1	ITGBL1	rs1335587-G	0.404	9E-6	(BMI z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
1364	chr13	102227494	102227495	rs9557704	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	13q33.1	ITGBL1	rs9557704-A	0.13	2E-7	(AA, Dietary energy)	0.04	[0.03-0.06] unit decrease	Affymetrix [706791]	N
1367	chr13	102553247	102553248	rs9557754	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	13q33.1	NR	rs9557754-G	0.62	8E-6		1.23	[0.70-1.76] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1368	chr13	102680125	102680126	rs11617740	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	13q33.1	FGF14	rs11617740-?	NR	7E-7	(Afro-Caribbean)	16.69	[5.53-51.97]	Illumina [2485249] (imputed)	N
1369	chr13	102849264	102849265	rs544434	21130132	Mick E	2010-12-01	Prog Neuropsychopharmacol Biol Psychiatry	Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.	Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)	140 child cases	NA	13q33.1	FGF14	rs544434-C	0.014	6E-6				Affymetrix [316934]	N
1373	chr13	103343427	103343428	rs9518810	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	13q33.1	METTL21C	rs9518810-?	NR	2E-6	(Alpha power, Cz)	0.174	[0.1-0.25] unit decrease	Illumina [527829]	N
1373	chr13	103355326	103355327	rs603894	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	13q33.1	NR	rs603894-A	NR	8E-6	(EA)	0.03641	(-0.05232--0.02049) mg/dl decrease	Illumina [up to 509150]	N
1377	chr13	103867103	103867104	rs912969	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	13q33.1	intergenic	rs912969-?	0.07	8E-6	(SMKDU)	0.14	[NR] years decrease	Illumina [~ 518000]	N
1377	chr13	103928006	103928007	rs1529276	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Prostate cancer	59 cases, 558 controls	NA	13q33.1	intergenic	rs1529276-?	NR	2E-6				Affymetrix [70897]	N
1378	chr13	103969490	103969491	rs4771450	18759275	McArdle PF	2008-09-01	Arthritis Rheum	Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.	Uric acid levels	408 Old Order Amish female individuals, 460 Old Order Amish male individuals	Framingham Heart Study (Sample size NR)	13q33.1	NR	rs4771450-?	NR	2E-6		0.23	[NR] mg/dl decrease in uric acid levels	Affymetrix [361034]	N
1378	chr13	104060086	104060087	rs9586179	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	13q33.1	SLC10A2	rs9586179-T	NR	4E-7	(DPA)	0.05	[NR] % increase	Affymetrix, Illumina [NR]	N
1379	chr13	104091544	104091545	rs583464	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	13q33.1	intergenic	rs583464-?	NR	3E-6	(SF2)			Affymetrix [5476100] (imputed)	N
1379	chr13	104186918	104186919	rs16962638	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	13q33.1	intergenic	rs16962638-C	0.11	6E-6	(HOMA-IR)	15.0	[8.00 - 22.00] % increase	Affymetrix [872243]	N
1384	chr13	104749835	104749836	rs149773673	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	13q33.1	NR	rs149773673-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1386	chr13	105039145	105039146	rs17450420	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer  (alcohol interaction)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	13q33.2	SLC10A2	rs17450420-?	0.04	5E-8		1.7	[1.41-2.06]	NR [NR]	N
1392	chr13	105806953	105806954	rs3007243	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	13q33.2	intergenic	rs3007243-G	0.959	2E-6		0.8386	[0.5-1.18] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1392	chr13	105807022	105807023	rs16965962	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	13q33.2	intergenic	rs16965962-T	NR	3E-7	(AA - GSE)			Affymetrix [421789]	N
1392	chr13	105807022	105807023	rs16965962	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	13q33.2	intergenic	rs16965962-T	0.03	3E-7	(EA + AA - GSE)			Affymetrix [421789]	N
1392	chr13	105835169	105835170	rs16966085	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q33.2	DAOA	rs16966085-A	0.096	3E-6	(HRmax )	0.04	[NR] bpm increase	Illumina [899892]	N
1394	chr13	106067919	106067920	rs17655948	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	13q33.2	DAOA	rs17655948-T	0.64	7E-6	(Age 20-60 years)	0.1638	[0.093-0.234] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1394	chr13	106096811	106096812	rs11618212	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		13q33.2	intergenic	rs11618212-?	0.213	5E-12			[NR]	Affymetrix, Illumina [152234]	N
1394	chr13	106100392	106100393	rs7331194	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	13q33.2	DAOA	rs7331194-?		4E-6	(PC2)	0.0588	[NR] unit increase	Illumina [4167292] (imputed)	N
1395	chr13	106248032	106248033	rs16966918	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	13q33.2	NR	rs16966918-A	NR	5E-6	(phenotype 1)	4.01	[NR]	Illumina [> 8000000] (imputed)	N
1395	chr13	106248032	106248033	rs16966918	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	13q33.2	NR	rs16966918-A	NR	5E-6	(phenotype 3)	4.01	[NR]	Illumina [> 8000000] (imputed)	N
1395	chr13	106249308	106249309	rs1549059	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q33.2	DAOA	rs1549059-A	0.458	4E-6	(Energy balance )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1397	chr13	106439365	106439366	rs7327673	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	13q33.2	NR	rs7327673-?		4E-6	(females)			Illumina [1211988] (imputed)	N
1398	chr13	106589140	106589141	rs7336109	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	13q33.2	DAOA	rs7336109-T	0.29	9E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1398	chr13	106596718	106596719	rs488248	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)	147 Japanese ancestry cases, 233 Japanese ancestry controls	NA	13q33.2	LOC728192	rs488248-T	0.795	3E-6	(Allelic model)	2.896	[1.802-4.665]	Illumina [733202]	N
1398	chr13	106651660	106651661	rs4996815	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	13q33.2	DAOA	rs4996815-?	NR	1E-7		1.2764	[NR]	Affymetrix [722112]	N
1399	chr13	106785264	106785265	rs1372791	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	13q33.2	LOC341604	rs1372791-A		4E-7	(EA)			Illumina [NR]	N
1403	chr13	107338800	107338801	rs1330950	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	13q33.3	LINCOO443	rs1330950-?		8E-7	(Hispanic)	17.5	[NR]	Illumina [936149]	N
1406	chr13	107700217	107700218	rs9558942	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q33.3	FAM155A	rs9558942-G	0.46	7E-6	(Total glutathione )	0.03	[NR] umol/L increase	Illumina [899892]	N
1407	chr13	107780315	107780316	rs1927745	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	13q33.3	FAM155A	rs1927745-A	0.24	5E-6		0.16	[NR] unit decrease	Affymetrix, Illumina [up to 2500000] (imputed)	N
1407	chr13	107790400	107790401	rs35669975	25963547	Wilson CL	2015-05-11	Cancer	Genetic and clinical factors associated with obesity among adult survivors of childhood cancer: A report from the St. Jude Lifetime Cohort.	Obesity in adult survivors of childhood cancer exposed to cranial radiation	365 obese individuals, 411 non-obese individuals	NA	13q33.3	FAM155A	rs35669975-C	0.61	3E-8		1.92	[1.52-2.44]	Affymetrix [NR] (imputed)	N
1410	chr13	108134908	108134909	rs9520462	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	13q33.3	FAM155A	rs9520462-?	NR	7E-6				Illumina [~ 2400000] (imputed)	N
1410	chr13	108257219	108257220	rs957788	21079607	Wang K	2010-11-16	Mol Psychiatry	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	Anorexia nervosa	1,033 European ancestry cases, 3,733 European ancestry controls	NA	13q33.3	FAM155A	rs957788-?	0.31	8E-6				Illumina [~ 598000]	N
1412	chr13	108479965	108479966	rs10508196	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	13q33.3	FAM155A	rs10508196-A	0.11	2E-6	(Age 6)	1.08	[1.05-1.12] unit increase	Illumina [2461244] (imputed)	N
1412	chr13	108484453	108484454	rs2036707	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q33.3	FAM155A	rs2036707-A	0.142	7E-6	(Fat mass )	0.02	[NR] % increase	Illumina [899892]	N
1412	chr13	108491591	108491592	rs1509091	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	13q33.3	FAM155A	rs1509091-C		3E-6		0.11	[0.06-0.15] unit decrease	Affymetrix [~ 2500000] (imputed)	N
1414	chr13	108668546	108668547	rs12871532	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	13q33.3	FAM155A	rs12871532-T		1E-6	(Modelling analysis)	1.06	[1.04-1.09]	NR [1252901] (imputed)	N
1415	chr13	108816224	108816225	rs10492664	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	13q33.3	LIG4, ABHD13	rs10492664-C	0.84	1E-6				Perlegen [378332]	N
1418	chr13	109264869	109264870	rs9559377	25562672	Byrne EM	2014-12-09	J Clin Psychiatry	Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.	Seasonality	3,269 European ancestry individuals	887 Old order Amish individuals	13q33.3	MYO16	rs9559377-A	NR	5E-6		0.49	[0.27-0.71] unit increase	Affymetrix, Illumina [2354422] (imputed)	N
1419	chr13	109347658	109347659	rs7984522	22763476	Zhang D	2012-07-05	Hypertens Res	Genome-wide linkage and association scans for pulse pressure in Chinese twins.	Blood pressure	63 Chinese ancestry dizygotic twin pairs	NA	13q33.3	MYO16	rs7984522-?	NR	7E-7				Affymetrix [~ 900000]	N
1419	chr13	109380725	109380726	rs10492418	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	13q33.3	MYO16	rs10492418-?	0.4292	2E-6	(anti-B2 GPI)	2.172	[NR]	Affymetrix [906600]	N
1420	chr13	109455834	109455835	rs984300	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q33.3	MYO16	rs984300-G	0.373	3E-6	(Urinary free dopamine )	0.02	[NR] nmol/d increase	Illumina [899892]	N
1420	chr13	109473945	109473946	rs17393344	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		13q33.3	MYO16	rs17393344-?	0.06	2E-8		0.26	unit decrease	Illumina [NR] (imputed)	N
1420	chr13	109502848	109502849	rs17485138	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	13q33.3	MYO16	rs17485138-?	NR	7E-6	(DMFS2)			Illumina [518997]	N
1420	chr13	109511058	109511059	rs814141	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	13q33.3	NR	rs814141-?		5E-6	(AA)			Illumina [up to 524000]	N
1420	chr13	109556518	109556519	rs78553789	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	13q33.3	NR	rs78553789-?	NR	6E-7	(EA)	0.6956	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1425	chr13	110154027	110154028	rs4773054	25534755	Chaste P	2014-09-30	Biol Psychiatry	A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?	Autism spectrum disorder-related traits	1633 European ancestry trios, 942 trios	NA	13q33.3	intergenic	rs4773054-?	NR	7E-8	(Autism paternal model)	2.9	[1.91-4.39]	Illumina [up to 2017939]	N
1425	chr13	110154027	110154028	rs4773054	25534755	Chaste P	2014-09-30	Biol Psychiatry	A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?	Autism spectrum disorder-related traits	1633 European ancestry trios, 942 trios	NA	13q33.3	intergenic	rs4773054-?	NR	5E-8	(ASD paternal model)	2.66	[1.83-3.86]	Illumina [up to 2017939]	N
1426	chr13	110267248	110267249	rs2094900	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q34	NR	rs2094900-A	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1428	chr13	110572209	110572210	rs7323507	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	13q34	NR	rs7323507-?		8E-6	(AA)			Illumina [up to 524000]	N
1430	chr13	110790231	110790232	rs641862	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q34	COL4A1	rs641862-G	0.062	7E-7	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1430	chr13	110806489	110806490	rs1192201	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	13q34	COL4A1	rs1192201-G	NR	2E-6	(Fixed effect)	0.08	[0.041-0.119] unit decrease	Illumina [4736131] (imputed)	N
1430	chr13	110818597	110818598	rs3742207	20031579	Tarasov KV	2009-04-01	Circ Cardiovasc Genet	COL4A1 is associated with arterial stiffness by genome-wide association scan.	Arterial stiffness	4,221 Sardinian individuals	1,828 Sardinian individuals, 813 Old Order Amish individuals	13q34	COL4A1	rs3742207-C	0.44	5E-8		21.0	[11.79-30.21] cm/s increase	Affymetrix [362129] (imputed)	N
1431	chr13	110929161	110929162	rs494558	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q34	COL4A1	rs494558-G	0.078	5E-8	(Weight z-score change )	0.05	[NR] SD/y increase	Illumina [899892]	N
1431	chr13	110936226	110936227	rs561437	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Behavioral disturbance or psychiatric symptoms and prion disease	Up to 170 cases, 5,200 controls	NA	13q34	COL4A1	rs561437-?	0.499	5E-6		2.04	[1.49-2.86]	Illumina [518938]	N
1431	chr13	110960711	110960712	rs4773144	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	13q34	COL4A1, COL4A2	rs4773144-G	NR	2E-6		1.08	[1.05-1.12]	Illumina [575000] (imputed)	N
1431	chr13	110960711	110960712	rs4773144	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	13q34	COL4A1, COL4A2	rs4773144-G	0.44	4E-9		1.07	[1.05-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1431	chr13	110960942	110960943	rs3809346	22144573	O'Donnell CJ	2011-12-05	Circulation	Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.	Coronary artery calcification	9,961 European ancestry individuals	6,032 European ancestry individuals	13q34	COL4A2	rs3809346-A	NR	9E-7		0.102	[0.061-0.143] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1432	chr13	111030577	111030578	rs7319311	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	13q34	NR	rs7319311-?	NR	4E-6		1.2452	[NR]	Affymetrix [722112]	N
1432	chr13	111040797	111040798	rs9515201	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	13q34	COL4A2	rs9515201-A	0.3	7E-7	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1435	chr13	111449114	111449115	rs167890	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	13q34	C13orf29	rs167890-A	0.042	5E-6	(Diet fat )	0.0	[NR] %energy increase	Illumina [899892]	N
1435	chr13	111470037	111470038	rs767210	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	13q34	RP11-120J20.1	rs767210-?	0.1089	3E-7	(PAL6)			Illumina [475971]	N
1435	chr13	111522257	111522258	rs2277425	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	13q34	NR	rs2277425-G	0.109	8E-6	(EA)	0.075	[0.042-0.108] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
1437	chr13	111781059	111781060	rs12853515	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	13q34	ARHGEF7	rs12853515-G	0.14	2E-6	(Carbohydrate)			Affymetrix [590000]	N
1437	chr13	111781059	111781060	rs12853515	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	13q34	ARHGEF7	rs12853515-G	0.14	4E-6	(Carbohydrate)			Affymetrix [590000]	N
1438	chr13	111818831	111818832	rs4773330	19414484	Johnson AD	2009-05-04	Hum Mol Genet	Genome-wide association meta-analysis for total serum bilirubin levels.	Bilirubin levels	9,464 individuals	NA	13q34	ARHGEF7	rs4773330-A	0.12	8E-6		0.04	[0.02-0.06] umol/l decrease in log(tbil)	Affymetrix, Illumina [2555103] (imputed)	N
1440	chr13	112181436	112181437	rs9555810	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	13q34	C13orf16, ARHGEF7	rs9555810-G	0.28	6E-8		2.3	[1.52-3.08] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1440	chr13	112183347	112183348	rs9560113	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	13q34	TEX29	rs9560113-G	0.28	2E-17		0.05	[0.038-0.062] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1440	chr13	112196366	112196367	rs9522267	25705159	Hong Y	2014-12-31	Genomics Inform	Genome-wide association study of hepatitis in korean populations.	Hepatitis	1,500 Korean ancestry cases, 1,500 Korean ancestry controls	NA	13q34	intergenic	rs9522267-?	NR	4E-10		1.0869565	[NR]	NR [352000]	N
1441	chr13	112221296	112221297	rs7333181	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	13q34	ARHGEF7, LOC121793	rs7333181-A	0.12	3E-8		0.52	[0.34-0.70] years increase	Illumina [315418]	N
1443	chr13	112575603	112575604	rs9577381	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	13q34	intergenic	rs9577381-A	0.3263	2E-6		0.0714	[0.042-0.101] unit decrease	Illumina [2500000] (imputed)	N
1445	chr13	112750960	112750961	rs944899	25234806	Dijkstra AE	2014-09-18	Eur Respir J	Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.	Chronic mucus hypersecretion	342 European ancestry cases, 1,006 European ancestry controls	130 European ancestry cases, 2,313 European ancestry controls	13q34	SOX1	rs944899-A	0.46	8E-6		1.4	[NR]	Illumina [522636]	N
1445	chr13	112836654	112836655	rs9324268	23432519	O'Brien RP	2013-02-21	Clin Transplant	A genome-wide association study of recipient genotype and medium-term kidney allograft function.	Renal transplant outcome	263 European ancestry individuals		13q34	NR	rs9324268-A	NR	2E-6	(Five-year creatinine)	0.1738	[NR] unit increase	Illumina [511662]	N
1447	chr13	113020756	113020757	rs9577729	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	13q34	SOX1, C13orf28	rs9577729-G	0.01	6E-6		5.91	[2.48-14.05]	Illumina [1556551]	N
1449	chr13	113331867	113331868	rs7998202	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	13q34	ATP11A, TUBGCP3	rs7998202-G	0.14	5E-9		0.03	[0.02-0.04] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1451	chr13	113536626	113536627	rs1278769	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	13q34	ATP11A	rs1278769-G	0.76	7E-9		1.27	[1.14-1.39]	Illumina [439828]	N
1452	chr13	113659107	113659108	rs4907479	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	6,911 European ancestry cases, 11,818 European ancestry controls	801 cases, 1,307 controls	13q34	NR	rs4907479-?	NR	3E-6		1.13	[1.07-1.18]	Illumina [462190]	N
1452	chr13	113694508	113694509	rs11842874	21871595	Day-Williams AG	2011-08-25	Am J Hum Genet	A variant in MCF2L is associated with osteoarthritis.	Osteoarthritis	3,177 European ancestry cases, 4,894 European ancestry controls	15,864 European ancestry cases, 19,610 European ancestry controls	13q34	MCF2L	rs11842874-A	0.07	2E-8		1.17	[1.11-1.23]	NR [7258070] (imputed)	N
1452	chr13	113752830	113752831	rs10665	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	13q34	F7/F10	rs10665-A	0.878	2E-47	(FVII:C)	0.847	[0.73-0.96] unit increase	Illumina [NR] (imputed)	N
1452	chr13	113753163	113753164	rs2181540	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	13q34	F7/F10	rs2181540-T	0.876	1E-46	(FVII:C)	0.834	[0.72-0.95] unit increase	Illumina [NR] (imputed)	N
1452	chr13	113756539	113756540	rs555212	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	13q34	F7/F10	rs555212-G	0.768	1E-15	(FVII:C)	0.367	[0.28-0.46] unit decrease	Illumina [NR] (imputed)	N
1452	chr13	113760033	113760034	rs561241	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Prothrombin time	2,583 European ancestry individuals	986 European ancestry individuals	13q34	F7	rs561241-C	NR	4E-56		0.035	[0.029-0.041] unit increase	Illumina [~ 2500000] (imputed)	N
1452	chr13	113760033	113760034	rs561241	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Factor VII	886 European ancestry individuals	NA	13q34	MCF2L, AB116074, AK092739, AK123267, AB002360, F7, CR603372, F10, PROZ	rs561241-?	0.12	5E-16				Affymetrix [70897]	N
1453	chr13	113770875	113770876	rs488703	20231535	Smith NL	2010-03-15	Circulation	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	Factor VII levels	15,422 European ancestry individuals	Up to 7,604 European ancestry individuals	13q34	F7	rs488703-?	NR	9E-256				Affymetrix, Illumina [2734954] (imputed)	N
1453	chr13	113772706	113772707	rs6041	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	13q34	F7/F10	rs6041-G	0.892	2E-45	(FVII:C)	0.877	[0.76-1] unit increase	Illumina [NR] (imputed)	N
1453	chr13	113793848	113793849	rs3211770	23381943	Williams FM	2013-01-01	Ann Neurol	Ischemic stroke is associated with the ABO locus: the EuroCLOT study.	End-stage coagulation	2,100 European ancestry individuals	NA	13q34	F7/F10	rs3211770-G	0.879	3E-19	(FVII:C)	0.534	[0.42-0.65] unit increase	Illumina [NR] (imputed)	N
1454	chr13	114012897	114012898	rs7317038	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	13q34	GRTP1	rs7317038-C	NR	8E-12		0.006	[0.004-0.008] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1458	chr13	114507238	114507239	rs9329350	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	13q34	NR	rs9329350-G	0.941389270067114	8E-6	(IGP59)	0.3006	[0.17-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
1459	chr13	114622596	114622597	rs9604529	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	13q34	intergenic	rs9604529-?	0.19	7E-7	(CHAQ, RF-)	0.35	[NR] unit increase	Illumina [534053]	N
1461	chr13	114900149	114900150	rs3812831	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	13q34	NR	rs3812831-C	NR	1E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
744	chr14	20940605	20940606	rs1049564	25338677	Kariuki SN	2014-10-23	Genes Immun	Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.	Interferon alpha levels in systemic lupus erythematosus	88 European ancestry high interferon alpha cases, 322 European ancestry low interferon alpha cases	715 European ancestry cases, 450 African American cases	14q11.2	PNP, TMEM55B, GAFA1	rs1049564-T	NR	1E-7	(EA)	2.08	[1.34-3.21]	Illumina [291943]	N
744	chr14	20957432	20957433	rs12147450	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	14q11.2	intergenic	rs12147450-?	NR	6E-7	(BARS)			Affymetrix [492000]	N
745	chr14	21005061	21005062	rs1243704	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	14q11.2	RNASE9, RNASE10	rs1243704-?		7E-7	(IFN gamma response)			Illumina [NR]	N
745	chr14	21024618	21024619	rs1243647	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	14q11.2	RNASE9	rs1243647-?	NR	1E-6	(rs12418451)	1.3333	[1.19-1.49]	Affymetrix, Illumina [1117531] (imputed)	N
746	chr14	21207774	21207775	rs80073712	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	14q11.2	NR	rs80073712-?		7E-7	(PCB206)	0.76	[0.47-1.05] unit decrease	Illumina [8736858] (imputed)	N
747	chr14	21261732	21261733	rs10131141	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q11.2	RNASE1	rs10131141-G	0.28	8E-8	(Urinary nitrogen )	0.04	[NR] g/d increase	Illumina [899892]	N
750	chr14	21725653	21725654	rs17197037	21738484	Smith EN	2011-06-30	PLoS Genet	Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.	Bipolar disorder	1,190 European and unknown ancestry cases, 401 European and unknown ancestry controls	16,179 individuals	14q11.2	HNRNPC	rs17197037-A	NR	2E-6		1.17	[NR]	Affymetrix [703019]	N
752	chr14	21982956	21982957	rs1263806	25628645	Tong Y	2015-01-13	Front Genet	Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs).	Response to Homoharringtonine (cytotoxicity)	93 African-American ancestry lymphoblastoid cell lines, 91 European ancestry lymphoblastoid cell lines, 94 Han Chinese ancestry lymphoblastoid cell lines	NA	14q11.2	SALL2, METTL3	rs1263806-?		9E-7				Affymetrix, Illumina [6750581] (imputed)	N
754	chr14	22196540	22196541	rs10132760	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	14q11.2	NR	rs10132760-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
754	chr14	22235889	22235890	rs718433	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	14q11.2	TRAJ17	rs718433-G	0.39	8E-6		0.59	[0.32-0.86] mmHg decrease	Illumina [466573]	N
756	chr14	22481823	22481824	rs3811321	23432519	O'Brien RP	2013-02-21	Clin Transplant	A genome-wide association study of recipient genotype and medium-term kidney allograft function.	Renal transplant outcome	263 European ancestry individuals		14q11.2	TRAV19, TRAV20	rs3811321-C	NR	8E-8	(Five-year creatinine)	0.481	[NR] unit increase	Illumina [511662]	N
757	chr14	22607501	22607502	rs1474476	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q11.2	TRAV8-7	rs1474476-A	0.108	5E-6	(Urinary free dopamine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
758	chr14	22782376	22782377	rs11845134	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q11.2	TRAV40	rs11845134-A	0.181	6E-6	(Weight change )	0.03	[NR] kg/y increase	Illumina [899892]	N
760	chr14	22937655	22937656	rs12589282	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)	428 Japanese ancestry cases, 743 Japanese ancestry controls	NA	14q11.2	TRA	rs12589282-G	0.437	4E-6	(Recessive model)	1.48	[1.25-1.752]	Illumina [733202]	N
760	chr14	22956709	22956710	rs227869	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	14q11.2	DAD1	rs227869-?	0.32	4E-6		0.25	[0.14-0.36] unit decrease	Illumina [2095209]	N
760	chr14	23002683	23002684	rs1154155	25986216	Toyoda H	2015-05-15	Brain Behav Immun	A polymorphism in CCR1/CCR3 is associated with narcolepsy.	Narcolepsy with cataplexy	409 Japanese ancestry cases, 1,562 Japanese ancestry controls	240 Japanese ancestry cases, 869 Japanese ancestry controls	14q11.2	TCRA	rs1154155-C	0.431	1E-11		1.71	[NR]	Affymetrix [525196]	N
760	chr14	23002683	23002684	rs1154155	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy	1,189 Chinese ancestry cases, 1,997 Chinese ancestry controls	2,693 European ancestry cases, 11,495 European ancestry controls	14q11.2	TRA	rs1154155-G	0.148	5E-49		1.64	[1.53-1.75]	Affymetrix [603382]	N
760	chr14	23002683	23002684	rs1154155	20711174	Hor H	2010-08-15	Nat Genet	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	Narcolepsy	562 European ancestry cases, 702 European ancestry controls	370 cases, 495 controls	14q11.2	TRA@	rs1154155-G	0.15	5E-7		1.54	[1.30-1.95]	Affymetrix [392949]	N
760	chr14	23002683	23002684	rs1154155	19412176	Hallmayer J	2009-05-03	Nat Genet	Narcolepsy is strongly associated with the T-cell receptor alpha locus.	Narcolepsy	807 European ancestry cases, 1,074 European ancestry controls	363 European ancestry cases, 355 European ancestry  controls, 133 African American cases, 144 African American controls, 561 Asian ancestry cases, 605 Asian ancestry controls	14q11.2	TRA-alpha, TRAJ10	rs1154155-C	0.14	3E-22		1.69	[1.52-1.88]	Affymetrix [549596]	N
764	chr14	23464481	23464482	rs997154	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		14q11.2	AJUBA, C14orf93	rs997154-G	NR	7E-6		0.138	[0.077-0.199] unit increase	Illumina [2446724] (imputed)	N
764	chr14	23464481	23464482	rs997154	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		14q11.2	AJUBA, C14orf93	rs997154-G	NR	3E-8		0.15	[0.097-0.203] unit increase	Illumina [2446724] (imputed)	N
764	chr14	23585332	23585333	rs4982731	23512250	Xu H	2013-03-19	J Natl Cancer Inst	Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.	Acute lymphoblastic leukemia (childhood)	972 European ancestry cases, 1,386 European ancestry controls, 89 African American cases, 1,363 African American controls, 305 Hispanic cases, 1,008 Hispanic controls	574 European ancestry cases, 2,601 European ancestry controls, 128 African American cases, 1,075 African American controls, 143 Hispanic cases, 640 Hispanic controls	14q11.2	CEBPE	rs4982731-C	0.28	9E-12		1.36	[1.24-1.48]	Affymetrix [709059]	N
764	chr14	23589056	23589057	rs2239633	23996088	Migliorini G	2013-08-30	Blood	Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.	Acute lymphoblastic leukemia (B-cell precursor)	1,658 European ancestry child cases, 4,723 European ancestry controls	1,449 European ancestry child cases, 1,488 European ancestry controls	14q11.2	CEBPE	rs2239633-?	NR	1E-16				Illumina [382776] (imputed)	N
764	chr14	23589056	23589057	rs2239633	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	14q11.2	CEBPE	rs2239633-C	0.5	4E-10		1.3513513	[1.22-1.47]	Affymetrix [355750]	N
764	chr14	23589056	23589057	rs2239633	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	14q11.2	CEBPE	rs2239633-C	0.5	2E-8	(ETV6-RUNX1 positive)	1.3333333	[1.2-1.49]	Affymetrix [355750]	N
764	chr14	23589056	23589057	rs2239633	19684604	Papaemmanuil E	2009-08-16	Nat Genet	Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	907 European ancestry cases, 2,398 European ancestry controls	NA	14q11.2	CEBPE	rs2239633-G	0.52	3E-7		1.34	[1.22-1.45]	Illumina [291473]	N
766	chr14	23840032	23840033	rs10137082	21980299	Bradfield JP	2011-09-29	PLoS Genet	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Type 1 diabetes	9,934 European ancestry cases, 16,956 European ancestry controls	1,120 European ancestry affected trios	14q11.2	NR	rs10137082-?	NR	6E-6		1.1	[NR]	Affymetrix, Illumina [~ 2540000] (imputed)	N
767	chr14	23861810	23861811	rs365990	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	14q11.2	MYH6	rs365990-G	0.353	5E-45		0.564	[0.47-0.66] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
767	chr14	23861810	23861811	rs365990	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	14q11.2	MYH6	rs365990-G	0.34	9E-11	(HR)	5.25	[3.66-6.83] % s.d. increase	Illumina [306060]	N
767	chr14	23865884	23865885	rs452036	23183192	Deo R	2012-11-23	Heart Rhythm	Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.	Resting heart rate	13,372 African American individuals		14q11.2	MYH6	rs452036-G	0.38	8E-7	Fixed effects analysis	9.6	[5.68-13.52] ms increase	Affymetrix, Illumina [2954965] (imputed)	N
767	chr14	23865884	23865885	rs452036	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	14q11.2	MYH6	rs452036-A	0.36	4E-14		7.8	[5.84-9.76] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
767	chr14	23977009	23977010	rs223116	20639392	Eijgelsheim M	2010-07-16	Hum Mol Genet	Genome-wide association analysis identifies multiple loci related to resting heart rate.	Resting heart rate	38,991 European ancestry individuals	NA	14q11.2	MYH7, NDNG	rs223116-A	0.24	3E-8		7.4	[4.85-9.95] ms decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
768	chr14	24033069	24033070	rs2281680	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	14q11.2	AP1G2	rs2281680-?	0.21	6E-8	(Recessive)	1.38	[1.23-1.54]	Affymetrix [319222]	N
770	chr14	24306536	24306537	rs12889813	25758998	Rubicz R	2015-03-11	Eur J Hum Genet	Genome-wide genetic investigation of serological measures of common infections.	Antibody level in response to infection	1,932 Mexican-American individuals	NA	14q11.2	LOC728667	rs12889813-T	0.152	8E-7	(Cytomegalovirus)	0.2	[NR] unit decrease	Illumina [944565]	N
771	chr14	24381514	24381515	rs12436436	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	14q11.2	NR	rs12436436-C	0.08	5E-6		1.3	[NR]	Affymetrix [1769948] (imputed)	N
771	chr14	24504120	24504121	rs140436982	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	14q11.2	NR	rs140436982-?	NR	5E-6	(AA)	1.4246	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
772	chr14	24609146	24609147	rs8010715	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q12	NR	rs8010715-C	0.262775408381632	9E-6	(IGP75)	0.1664	[0.093-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
772	chr14	24615434	24615435	rs4575	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide behavior	577 European ancestry cases, 1,233 European ancestry controls	NA	14q12	PSME2, RNF31	rs4575-G	0.27	8E-6		1.492	[1.252-1.778]	Illumina [794207]	N
773	chr14	24771284	24771285	rs4280164	24571439	Nudel R	2014-02-26	Genes Brain Behav	Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.	Parent of origin effect on language impairment (paternal)	153 European ancestry case-parent trios, 54 European ancestry case-mother duos, 12 European ancestry case-father duos, 18 European ancestry cases	NA	14q12	C14orf21, DHRS1, CIDEB, ADCY4, LTB4R	rs4280164-G	0.767	4E-8		3.872	[NR] unit increase	Illumina [614937]	N
774	chr14	24830849	24830850	rs1950500	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	14q12	NFATC4	rs1950500-T	0.296	3E-22		0.031	[0.025-0.037] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
774	chr14	24830849	24830850	rs1950500	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	14q12	NFATC4	rs1950500-T	0.3	1E-11		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
774	chr14	24830849	24830850	rs1950500	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	14q12	NFATC4	rs1950500-T	0.29	2E-18		0.034	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
774	chr14	24871925	24871926	rs11621792	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	14q12	NYNRIN, CBLN3	rs11621792-T	0.42	2E-8		0.037	[0.023-0.051] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
774	chr14	24883886	24883887	rs8017377	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	14q12	NYNRIN	rs8017377-A	0.46	3E-15		0.03	[NR] unit increase	NR [NR] (imputed)	N
774	chr14	24883886	24883887	rs8017377	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	14q12	CBLN3, KIAA0323	rs8017377-T	0.48	4E-11		1.17	[0.8-1.54] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
775	chr14	24954001	24954002	rs2877649	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	14q12	AK056368	rs2877649-T	0.0339	2E-6		0.1877	[NR] unit increase	Illumina [1216189] (imputed)	N
776	chr14	25102159	25102160	rs8192917	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	14q12	GZMB	rs8192917-G	0.236	3E-8		1.28	[1.17-1.39]	Illumina [520460]	N
777	chr14	25271519	25271520	rs854384	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Hippocampal volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	14q12	STXBP6	rs854384-?	NR	1E-6		2.0E-4	[NR] unit increase	Illumina [478011]	N
779	chr14	25479541	25479542	rs11850957	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	14q12	STXBP6	rs11850957-T	0.21	6E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
779	chr14	25503798	25503799	rs10147992	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	14q12	STXBP6	rs10147992-G	0.47	1E-8	(monocyte count)	0.061	[0.04-0.08] unit increase	Illumina [2178645] (imputed)	N
782	chr14	25928178	25928179	rs10132280	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	STXBP6	rs10132280-C	0.682	1E-11	(EA)	0.023	[0.016-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
782	chr14	25928178	25928179	rs10132280	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	STXBP6	rs10132280-C	0.68	5E-11	(EA, men)	0.029	[0.02-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
782	chr14	25928178	25928179	rs10132280	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	STXBP6	rs10132280-C	0.674	1E-11		0.022	[0.016-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
784	chr14	26129565	26129566	rs12586774	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q12	LOC401767	rs12586774-A	0.094	4E-7	(Total cysteine )	0.03	[NR] umol/L increase	Illumina [899892]	N
784	chr14	26136610	26136611	rs1475010	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Overweight status	531 Bangladeshi ancestry overweight females, 1,269 Bangladeshi ancestry normal weight females, 338 Bangladeshi ancestry overweight males, 1,106 Bangladeshi ancestry normal weight males	NA	14q12	STXBP6, NOVA1	rs1475010-C	0.307	6E-7		0.06	[0.036-0.084] unit increase	Illumina [1208102] (imputed)	N
787	chr14	26488466	26488467	rs862946	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (aspartate transaminase)	484 Korean ancestry children	NA	14q12	CYB5AP5	rs862946-A	0.112	2E-7		0.043	[0.027-0.059] unit increase	Illumina [747076]	N
788	chr14	26670924	26670925	rs1546939	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (non-dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	14q12	intergenic	rs1546939-T	0.37	9E-6				Affymetrix, Illumina [~ 2500000] (imputed)	N
791	chr14	27125764	27125765	rs8008716	25407941	Sleiman PM	2014-11-19	Nat Commun	GWAS identifies four novel eosinophilic esophagitis loci.	Eosinophilic esophagitis	603 European ancestry cases, 3,637 European ancestry controls	333 European ancestry cases, 675 European ancestry controls	14q12	NOVA1	rs8008716-G	0.087	7E-8		1.712	[1.52-1.91]	Illumina [~ 2300000] (imputed)	N
792	chr14	27260042	27260043	rs1951082	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	14q12	intergenic	rs1951082-T	0.43	5E-6				Perlegen [378332]	N
794	chr14	27406891	27406892	rs17111920	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	14q12	NR	rs17111920-?	NR	3E-6		2.4079	[NR]	Affymetrix [722112]	N
797	chr14	27800176	27800177	rs2877832	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Diabetes related insulin traits	Up to 982 individuals	NA	14q12	intergenic	rs2877832-?	NR	3E-6	(HOMA-IR)			Affymetrix [70897]	N
797	chr14	27800176	27800177	rs2877832	17903298	Meigs JB	2007-09-19	BMC Med Genet	Genome-wide association with diabetes-related traits in the Framingham Heart Study.	Diabetes related insulin traits	Up to 982 individuals	NA	14q12	intergenic	rs2877832-?	NR	2E-6	(FI)			Affymetrix [70897]	N
804	chr14	28728110	28728111	rs6576132	24825563	McDonald ML	2014-05-13	Am J Respir Cell Mol Biol	Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease.	Resting oxygen saturation in chronic osbtructive pulmonary disease (pulse oxymetry)	820 African American cases	4,568 European ancestry cases	14q12	FOXG1	rs6576132-A	0.434	5E-8	(AA)	0.004	[0.003-0.005] unit increase	Illumina [6160662] (imputed)	N
806	chr14	29021927	29021928	rs7493138	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	14q12	FOXG1	rs7493138-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
807	chr14	29116694	29116695	rs12587311	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	14q12	FOXG1	rs12587311-T	NR	5E-7	(DPA)	0.01	[NR] % decrease	Affymetrix, Illumina [NR]	N
807	chr14	29132876	29132877	rs1956388	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	14q12	intergenic	rs1956388-A	NR	2E-6	(Analysis II)			Illumina [313720]	N
808	chr14	29249348	29249349	rs2038256	20802204	Baranzini SE	2010-09-01	Brain	Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.	Multiple sclerosis--Brain Glutamate Levels	382 cases	NA	14q12	FOXG1B	rs2038256-?	NR	2E-6				Illumina [~ 500000]	N
809	chr14	29469372	29469373	rs10148671	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q12	NR	rs10148671-C	NR	2E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
811	chr14	29736837	29736838	rs12885454	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	PRKD1	rs12885454-C	0.646	9E-11		0.02	[0.014-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
811	chr14	29736837	29736838	rs12885454	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	PRKD1	rs12885454-C	0.642	2E-10	(EA)	0.021	[0.014-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
811	chr14	29736837	29736838	rs12885454	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	PRKD1	rs12885454-C	0.639	3E-8	(EA, women)	0.023	[0.015-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
813	chr14	30000404	30000405	rs1191551	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q12	NR	rs1191551-T	NR	8E-8		1.07	[NR]	Illumina [7158791] (imputed)	N
814	chr14	30088137	30088138	rs12431702	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q12	NR	rs12431702-C	0.380447777481086	8E-6	(IGP17)	0.1459	[0.082-0.21] unit increase	Illumina [~ 2500000] (imputed)	N
815	chr14	30190315	30190316	rs2068012	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q12	NR	rs2068012-C	NR	2E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
815	chr14	30190315	30190316	rs2068012	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	14q12	PRKD1	rs2068012-C	0.229	1E-8		1.0718113	[1.05-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
817	chr14	30489622	30489623	rs718545	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q12	PRKD1	rs718545-G	0.139	9E-6	(Diet fat )	0.03	[NR] %energy increase	Illumina [899892]	N
817	chr14	30515111	30515112	rs11847697	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	PRKD1	rs11847697-T	0.098	3E-7		0.037	[0.023-0.052] kg/m2 increase	Affymetrix, Illumina [2550021]	N
817	chr14	30515111	30515112	rs11847697	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	PRKD1	rs11847697-T	0.043	6E-7	(EA, women)	0.053	[0.032-0.074] kg/m2 increase	Affymetrix, Illumina [2550021]	N
817	chr14	30515111	30515112	rs11847697	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	PRKD1	rs11847697-T	0.042	4E-9	(EA)	0.049	[0.033-0.066] kg/m2 increase	Affymetrix, Illumina [2550021]	N
817	chr14	30515111	30515112	rs11847697	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	14q12	PRKD1	rs11847697-T	0.04	2E-6		0.107	[0.062-0.152] unit increase	Affymetrix, Illumina [557887] (imputed)	N
817	chr14	30515111	30515112	rs11847697	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	14q12	PRKD1	rs11847697-T	0.04	6E-11		0.17	[0.07-0.27] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
818	chr14	30594656	30594657	rs225848	22445761	Kurose K	2012-03-23	Psychiatry Res	Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.	Sexual dysfunction (SSRI/SNRI-related)	201 Japanese ancestry individuals	NA	14q12	RP11-269 C4.1	rs225848-G	0.028	1E-6		4.42	[2.12-9.26]	Affymetrix [186320]	N
829	chr14	32093547	32093548	rs7142881	18521091	Volpi S	2008-06-03	Mol Psychiatry	Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.	Response to iloperidone treatment (QT prolongation)	91 African American Schizophrenia cases, 69 European ancestry Schizophrenia cases, 16 Asian ancestry Schizophrenia cases, 7 Schizophrenia cases	NA	14q12	NUBPL	rs7142881-A	NR	2E-6				Affymetrix [339272]	N
830	chr14	32225500	32225501	rs77828254	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	14q12	NR	rs77828254-?		8E-7	(PCB126)	0.23	[0.13-0.33] unit decrease	Illumina [8736858] (imputed)	N
831	chr14	32353249	32353250	rs2039485	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Brain lesion load	791 European ancestry cases, 883 European ancestry controls	NA	14q12	NUBPL	rs2039485-?	0.22	6E-6			[NR]	Illumina [551642]	N
832	chr14	32433857	32433858	rs915071	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	14q12	NR	rs915071-?	NR	2E-6		1.2346	[NR]	Affymetrix [722112]	N
835	chr14	32851024	32851025	rs1951681	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	14q12	AKAP6	rs1951681-G	NR	6E-6		0.194	[0.11-0.28] unit increase	Illumina [628922]	N
838	chr14	33207521	33207522	rs2300835	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	14q12	AKAP6	rs2300835-?		5E-7				Affymetrix, Illumina [~ 2400000] (imputed)	N
838	chr14	33282469	33282470	rs2383378	21079607	Wang K	2010-11-16	Mol Psychiatry	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	Anorexia nervosa	1,033 European ancestry cases, 3,733 European ancestry controls	NA	14q12	AKAP6	rs2383378-?	0.41	6E-6				Illumina [~ 598000]	N
839	chr14	33302881	33302882	rs17522122	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	AKAP6	rs17522122-T	0.478	6E-6	(EA, women)	0.019	[0.011-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
839	chr14	33302881	33302882	rs17522122	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	AKAP6	rs17522122-T	0.476	3E-6	(EA)	0.015	[0.0087-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
839	chr14	33302881	33302882	rs17522122	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q12	AKAP6	rs17522122-T	0.471	3E-6		0.015	[0.0084-0.0206] kg/m2 increase	Affymetrix, Illumina [2550021]	N
839	chr14	33302881	33302882	rs17522122	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	14q12	AKAP6	rs17522122-?	NR	3E-8		0.0311	[0.020-0.042] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
839	chr14	33303539	33303540	rs12883788	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q12	NR	rs12883788-T	NR	3E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
839	chr14	33381097	33381098	rs12146962	22138694	Lin Z	2011-12-04	Nat Genet	A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.	Ankylosing spondylitis	1,837 Han Chinese ancestry cases, 4,231 Han Chinese ancestry controls	2,100 Han Chinese ancestry cases, 3,496 Han Chinese ancestry controls	14q13.1	NR	rs12146962-?	NR	9E-6		1.14	[1.08-1.20]	Illumina [1356350] (imputed)	N
840	chr14	33476265	33476266	rs4982029	20713499	Huang J	2010-08-16	Am J Psychiatry	Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.	Schizophrenia, bipolar disorder and depression (combined)	402 European ancestry schizophrenia cases, 1,021 European ancestry bipolar I cases, 493 European ancestry bipolar II cases, 1,210 European ancestry MDD cases, 1,060 European ancestry controls	NA	14q13.1	NPAS3	rs4982029-A	0.02	4E-6				Affymetrix, Perlegen [1574154] (imputed)	N
840	chr14	33480921	33480922	rs8015959	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	14q13.1	NR	rs8015959-T	0.02	5E-6		1.59	[NR]	Affymetrix [1769948] (imputed)	N
840	chr14	33498875	33498876	rs17455969	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	14q13.1	NR	rs17455969-?	NR	1E-7	(Japanese)	1.1128	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
841	chr14	33586562	33586563	rs17460823	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	14q13.1	NPAS3	rs17460823-?	NR	2E-6	(C-reactive protein)			Affymetrix [2543887] (imputed)	N
841	chr14	33677202	33677203	rs1958023	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	14q13.1	NPAS3	rs1958023-?	NR	4E-6			[NR]	Illumina [283437]	N
841	chr14	33684116	33684117	rs7151302	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	14q13.1	NPAS3	rs7151302-C	0.136	2E-6		0.14	[0.081-0.199] unit decrease	Illumina [2316178] (imputed)	N
842	chr14	33795590	33795591	rs80221072	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	14q13.1	NPAS3, AKAP6, LOC728925	rs80221072-A	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
843	chr14	33829319	33829320	rs2274511	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	14q13.1	NPAS3	rs2274511-?	NR	8E-7				Affymetrix [5486770] (imputed)	N
843	chr14	33918037	33918038	rs11845867	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	14q13.1	intergenic	rs11845867-C	0.2642	6E-6		0.0626	[0.036-0.090] unit increase	Illumina [2400000] (imputed)	N
846	chr14	34237952	34237953	rs36059107	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q13.1	NR	rs36059107-A	NR	7E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
848	chr14	34496451	34496452	rs191936903	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	14q13.1	NR	rs191936903-?	NR	3E-6	(Native Hawaiian)	1.1003	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
850	chr14	34801598	34801599	rs1958581	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	14q13.1	intergenic	rs1958581-?		8E-6	(PC3)	0.1353	[NR] unit decrease	Illumina [4167292] (imputed)	N
850	chr14	34844375	34844376	rs1958589	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	14q13.1	EAPP, SNX6, C14orf147	rs1958589-C		4E-6				Illumina [944512] (imputed)	N
853	chr14	35135185	35135186	rs7141276	23555300	Cui J	2013-03-28	PLoS Genet	Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis.	Response to anti-TNF treatment in rheumatoid arthritis	Up to 2,706 European ancestry cases	NA	14q13.1	NR	rs7141276-A	0.41	2E-6	(all patients, EULAR response analysis)	0.37	[NR] unit increase	Affymetrix, Illumina [~ 2000000] (imputed)	N
856	chr14	35619815	35619816	rs11156875	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q13.2	NR	rs11156875-A	NR	3E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
856	chr14	35639119	35639120	rs12436663	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	14q13.2	MRPP3	rs12436663	NR	6E-8	(Recessive model)	1.54	unit decrease	Illumina [542562]	N
857	chr14	35682171	35682172	rs12586317	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	14q13.2	NFKBIA	rs12586317-T	NR	4E-9		1.1904762	[1.16-1.23]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
857	chr14	35682171	35682172	rs12586317	20953189	Stuart PE	2010-10-17	Nat Genet	Genome-wide association analysis identifies three psoriasis susceptibility loci.	Psoriasis	Up to 1,831 cases, up to 2,546 controls	Up to 4,064 cases, up to 4,685 controls	14q13.2	PSMA6, NFKBIA	rs12586317-T	0.75	2E-8		1.15	[NR]	Illumina, Perlegen [up to 7456344] (imputed)	N
857	chr14	35740940	35740941	rs2899832	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	14q13.2	MRPP3	rs2899832-?	NR	6E-6	(Recessive model)	1.47	unit decrease	Illumina [542562]	N
858	chr14	35832665	35832666	rs8016947	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	14q13.2	PSMA6, NFKBIA	rs8016947-G	0.555	5E-6	(Chinese)	1.26	[1.14-1.39]	Illumina [up to 4778154] (imputed)	N
858	chr14	35832665	35832666	rs8016947	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	14q13.2	PSMA6, NFKBIA	rs8016947-G	0.553	3E-6	(EA)	1.16	[1.09-1.24]	Illumina [up to 4778154] (imputed)	N
858	chr14	35832665	35832666	rs8016947	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	14q13.2	PSMA6, NFKBIA	rs8016947-G	0.553	2E-10		1.19	[1.13-1.25]	Illumina [up to 4778154] (imputed)	N
858	chr14	35832665	35832666	rs8016947	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	14q13.2	NFKBIA	rs8016947-C	0.57	2E-11		1.19	[1.11-1.27]	Illumina [535475]	N
858	chr14	35852485	35852486	rs12884468	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	14q13.2	NFKBIA	rs12884468-?	NR	9E-9	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
861	chr14	36213441	36213442	rs148114321	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q13.2	NR	rs148114321-T	NR	9E-6		1.2	[NR]	Illumina [7158791] (imputed)	N
862	chr14	36397679	36397680	rs1168987	21659360	Wade R	2011-06-09	Haematologica	Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.	Response to antineoplastic agents	356 European ancestry cases	380 European ancestry cases	14q13.2	intergenic	rs1168987-A	NR	5E-6		2.27	[0.31-0.63]	Illumina [326385]	N
864	chr14	36574017	36574018	rs1537424	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	14q13.3	MBIP	rs1537424-T	0.608	1E-8	(TSH)	0.052	[0.034-0.07] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
864	chr14	36649245	36649246	rs944289	19198613	Gudmundsson J	2009-02-06	Nat Genet	Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations.	Thyroid cancer	192 European ancestry cases, 37,196 European ancestry controls	432 European ancestry cases, 1,727 European ancestry controls	14q13.3	NKX2-1	rs944289-T	0.57	2E-9		1.37	[1.24-1.52]	Illumina [304083]	N
865	chr14	36738360	36738361	rs116909374	22267200	Gudmundsson J	2012-01-22	Nat Genet	Discovery of common variants associated with low TSH levels and thyroid cancer risk.	Thyroid cancer	27,758 European ancestry individuals	1,156 European ancestry cases, up to 42,617 European ancestry controls	14q13.3	MBIP	rs116909374-T	0.017	5E-11		2.09	[1.68-2.60]	Illumina [~ 16000000] (imputed)	N
866	chr14	36854135	36854136	rs12590640	23717212	Band G	2013-05-23	PLoS Genet	Imputation-based meta-analysis of severe malaria in three African populations.	Malaria	5,425 African ancestry cases, 6,891 African ancestry controls	NA	14q13.3	NR	rs12590640-T	NR	4E-6		1.15	[1.09-1.23]	Illumina [1300000] (imputed)	N
867	chr14	36989418	36989419	rs2076751	23667675	Tanikawa C	2013-05-07	PLoS One	Genome wide association study of age at menarche in the Japanese population.	Menarche (age at onset)	15,495 Japanese ancestry females	NA	14q13.3	NKX2-1	rs2076751-A	0.23377	7E-6		0.087	[0.049-0.125] year decrease	Illumina [2310762] (imputed)	N
867	chr14	36994801	36994802	rs17176043	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	14q13.3	intergenic	rs17176043-A	0.946	7E-6		0.043	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
867	chr14	37000048	37000049	rs17104630	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	14q13.3	NKX2-1	rs17104630-G	0.04	8E-6		0.42	[0.61-1.10] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
868	chr14	37132768	37132769	rs2236007	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	14q13.3	PAX9, SLC25A21	rs2236007-G	0.79	2E-13		1.08	[1.05-1.1]	Affymetrix, Illumina [~ 2600000] (imputed)	N
875	chr14	38013786	38013787	rs4898641	26081443	Adkins DE	2015-06-17	Twin Res Hum Genet	Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood.	Longitudinal alcohol consumption	2,126 adolescents and early adults	NA	14q21.1	MIPOL1	rs4898641-G	0.06	1E-6	(mean)	4.88	z-score decrease	Illumina [866099] (imputed)	N
875	chr14	38066574	38066575	rs12587630	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	14q21.1	FOXA1	rs12587630-A	0.98	7E-6	(Age 20-60 years)	2.69	[1.75-4.15]	Affymetrix, Illumina [up to 17585496] (imputed)	N
875	chr14	38077147	38077148	rs1998359	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	14q21.1	FOXA1, TTC6	rs1998359-G	0.2491	5E-8		0.0809	[0.052-0.110] unit increase	Illumina [2400000] (imputed)	N
879	chr14	38641705	38641706	rs2803904	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	14q21.1	intergenic	rs2803904-C	0.5791	5E-6	(Case/control)	0.2574	[0.15-0.37] unit increase	Affymetrix, Illumina [NR] (imputed)	N
880	chr14	38683260	38683261	rs11622412	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	14q21.1	SSTR1, CLEC14A	rs11622412-T		5E-8		0.323	unit increase	Illumina [5767231] (imputed)	N
881	chr14	38912394	38912395	rs34310550	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	14q21.1	NR	rs34310550-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
882	chr14	39020504	39020505	rs10498345	18075462	Suzuki S	2007-11-17	Pharmacogenet Genomics	A novel genetic marker for coronary spasm in women from a genome-wide single nucleotide polymorphism analysis.	Coronary spasm	50 Japanese ancestry female cases, 50 Japanese ancestry female controls	151 Japanese ancestry female cases, 160 Japanese ancestry female controls	14q21.1	intergenic	rs10498345-T	0.30	9E-7		2.33	[1.64-3.23]	Affymetrix [97552]	N
882	chr14	39025119	39025120	rs2415487	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q21.1	LOC283547	rs2415487-G	0.274	6E-6	(EA, women)	0.02	[0.011-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
901	chr14	41523461	41523462	rs1959947	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	14q21.1	LRFN5	rs1959947-A	0.27	7E-6	(PS levels)	4.76	[2.68-6.84] iu/ml increase	Illumina [472123]	N
903	chr14	41702597	41702598	rs1612141	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	14q21.1	LRFN5	rs1612141-A	0.21	5E-6	(Sulfonylurea Hypoglycemic agents)			Affymetrix, Illumina [~ 2500000] (imputed)	N
905	chr14	42053900	42053901	rs1950832	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	14q21.1	LRFN5	rs1950832-C	0.78	9E-6	(men)	0.121	[0.068-0.174] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
910	chr14	42655274	42655275	rs2154294	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (12-month weekly alcohol consumption)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	14q21.1	intergenic	rs2154294-G	0.44	3E-6		0.08	[NR] unit increase	Illumina [~ 300000]	N
916	chr14	43403458	43403459	rs11157317	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		14q21.1	NR	rs11157317-A	0.25	9E-6	(HD vs. controls)	1.29	[1.15-1.44]	Illumina [414804]	N
917	chr14	43531401	43531402	rs2488856	25080503	Kwan JS	2014-07-30	Hum Mol Genet	Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.	Osteoprotegerin levels	4,158 European ancestry males, 531 South Tyrol males, 4,253 European ancestry females, 692 South Tyrol females, 702 Han Chinese ancestry females	NA	14q21.2	intergenic	rs2488856-A	0.898	5E-8	(Sex-combined)	0.044	[0.028-0.060] unit decrease	Affymetrix, Illumina [up to 2544063] (imputed)	N
925	chr14	44682863	44682864	rs12590995	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	14q21.2	intergenic	rs12590995-C	0.9192	5E-6	(Ordinal II)	0.4532	[0.26-0.65] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
925	chr14	44682863	44682864	rs12590995	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	14q21.2	intergenic	rs12590995-C	0.9191	3E-6	(Ordinal I)	0.4494	[0.26-0.64] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
928	chr14	45046628	45046629	rs113317269	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	14q21.2	NR	rs113317269-?	NR	6E-7				Affymetrix [5486770] (imputed)	N
929	chr14	45106631	45106632	rs12884395	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q21.2	FSCB	rs12884395-G	0.178	9E-6	(IGFBP-1 )	0.02	[NR] ng/mL increase	Illumina [899892]	N
936	chr14	46029686	46029687	rs7140958	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	14q21.2	intergenic	rs7140958-?	0.02	2E-7		0.085	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
946	chr14	47403683	47403684	rs12883384	18762592	van den Oord EJ	2008-09-01	Arch Gen Psychiatry	Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.	Neuroticism	1,227 European ancestry individuals	1,880 European ancestry individuals	14q21.3	MAMDC1	rs12883384-?	NR	7E-7				Affymetrix [420287]	N
947	chr14	47454985	47454986	rs11627056	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q21.3	MDGA2	rs11627056-A	0.281	3E-7	(IL6 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
947	chr14	47466176	47466177	rs9323124	26227905	Hu Y	2015-07-31	Mol Neurobiol	A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.	Parkinson's disease	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	14q21.3	MDGA2	rs9323124-?	NR	1E-6		3.97	[2.91-5.42]	Illumina [862198]	N
950	chr14	47863834	47863835	rs7159841	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	14q21.3	MAMDC1	rs7159841-?	0.21	2E-7	(Viscosity)			Affymetrix [70897]	N
950	chr14	47874556	47874557	rs17118552	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	14q21.3	MDGA2	rs17118552-?	0.014	2E-7	(CTJC , EA, RF+)	17.19	[NR] unit increase	Illumina [534053]	N
951	chr14	48015981	48015982	rs1160351	22445761	Kurose K	2012-03-23	Psychiatry Res	Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.	Sexual dysfunction (SSRI/SNRI-related)	201 Japanese ancestry individuals	NA	14q21.3	MDGA2	rs1160351-T	0.381	3E-7		2.92	[1.79-4.76]	Affymetrix [186320]	N
951	chr14	48040374	48040375	rs7144383	24429156	Noth I	2013-04-17	Lancet Respir Med	Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.	Idiopathic pulmonary fibrosis	542 European ancestry cases, 542 European ancestry controls	868 European ancestry cases, 1,389 European ancestry controls	14q21.3	MDGA2	rs7144383-G	0.11	4E-6		1.44	[1.23-1.69]	Affymetrix [10601812] (imputed)	N
951	chr14	48054158	48054159	rs4143912	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q21.3	NR	rs4143912-G	0.417046732532265	7E-6	(IGP45)	0.1425	[0.08-0.205] unit increase	Illumina [~ 2500000] (imputed)	N
951	chr14	48054158	48054159	rs4143912	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q21.3	NR	rs4143912-G	0.416787130454141	6E-6	(IGP5)	0.1434	[0.081-0.206] unit increase	Illumina [~ 2500000] (imputed)	N
955	chr14	48564955	48564956	rs7151223	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	14q21.3	AL358335.4	rs7151223-?	NR	1E-6	(Digit Span Forward)			Illumina [up to 563855]	N
955	chr14	48601435	48601436	rs7151968	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Behavioral disturbance or psychiatric symptoms and prion disease	Up to 170 cases, 5,200 controls	NA	14q21.3	LOC100506433	rs7151968-?	0.205	6E-6		2.12	[1.55-2.90]	Illumina [518938]	N
957	chr14	48823884	48823885	rs117167774	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	14q21.3	LOC100506433	rs117167774-T	NR	2E-7	(%LAA-950, All)	0.47	[0.019-0.921] unit increase	Illumina [7600000] (imputed)	N
961	chr14	49372800	49372801	rs2352904	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	14q21.3	intergenic	rs2352904-?	NR	2E-6	(F2)			Affymetrix [70897]	N
962	chr14	49426841	49426842	rs7158872	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	14q21.3	RPS29	rs7158872-?	NR	3E-6	(Trauma exposed controls; AA)			Illumina [up to 871502]	N
962	chr14	49426841	49426842	rs7158872	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	14q21.3	RPS29	rs7158872-?	NR	2E-6	(Whole cohort; AA)			Illumina [up to 871502]	N
962	chr14	49437930	49437931	rs2352908	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	14q21.3	intergenic	rs2352908-G	0.84	1E-6		0.12	[0.071-0.169] unit increase	Illumina [~ 2500000] (imputed)	N
962	chr14	49463483	49463484	rs11845208	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	14q21.3	ATP5GP2	rs11845208-G		1E-7	(AA)			Illumina [NR]	N
962	chr14	49534424	49534425	rs8013477	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	14q21.3	RPS29	rs8013477-C	0.24	4E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
966	chr14	49951349	49951350	rs1530947	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	14q21.3	RPS29	rs1530947-T	0.80	5E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
970	chr14	50485326	50485327	rs10138297	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Erythema nodosum in inflammatory bowel disease	103 European ancestry cases, 5,653 European ancestry controls	NA	14q21.3	ARF6, METTL21D, SOS2	rs10138297-G	NR	7E-6		2.63	[1.70-4.00]	Illumina [2017629] (imputed)	N
970	chr14	50486790	50486791	rs55643152	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	14q21.3	intergenic	rs55643152-T	0.0402	3E-6	(Primary)	1.0479	[0.61-1.49] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
971	chr14	50639994	50639995	rs147168872	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	14q21.3	NR	rs147168872-?	NR	9E-7	(Native Hawaiian)	1.1117	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
973	chr14	50856640	50856641	rs3783412	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	14q21.3	CDKL1, MAP4K5, ATL1, NIN, SOS2, L2HGDH, ATP5S, SAV1	rs3783412-?	0.53	8E-6	(PD2)	1.85	[NR]	Illumina [~ 1400000] (imputed)	N
973	chr14	50877982	50877983	rs1265879	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	14q22.1	CDKL1	rs1265879-?	NR	4E-6	(TrailsA)			Illumina [up to 563855]	N
973	chr14	50973631	50973632	rs17718580	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	14q22.1	MAP4K5	rs17718580-?	NR	8E-7	(TrailsA)			Illumina [up to 563855]	N
974	chr14	51084234	51084235	rs17122693	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	14q22.1	ATL1, SPG3A	rs17122693-?	NR	3E-7	(TrailsA)			Illumina [up to 563855]	N
975	chr14	51157159	51157160	rs3015469	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-40)	3,528 European ancestry individuals	NA	14q22.1	SAV1	rs3015469-G	0.314	8E-7		0.11	[0.071-0.149] unit increase	Illumina [2316178] (imputed)	N
975	chr14	51170878	51170879	rs8020441	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	14q22.1	NIN	rs8020441-?	NR	5E-7	(TrailsA)			Illumina [up to 563855]	N
975	chr14	51234159	51234160	rs8012283	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	14q22.1	MAP4K5, NIN, SPG3A, SAV1	rs8012283-G		3E-7	(Additive)	1.64	[1.35-1.98]	Affymetrix, Illumina [1621689] (imputed)	N
976	chr14	51264125	51264126	rs76096589	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	14q22.1	intergenic	rs76096589-A	0.01	7E-6		5.83	[2.45-13.86]	Illumina [1556551]	N
976	chr14	51323741	51323742	rs8019546	23636237	Tanaka T	2013-05-01	Am J Clin Nutr	Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.	Dietary macronutrient intake	37,537 European ancestry individuals	33,533 European ancestry individuals	14q22.1	NR	rs8019546-A	0.3	5E-6	(Carbohydrate)	0.22	[0.12-0.32] % increase	Affymetrix, Illumina [2500000] (imputed)	N
976	chr14	51326165	51326166	rs1953884	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	14q22.1	NR	rs1953884-?		4E-7	(PCB169)	0.25	[0.15-0.35] unit increase	Illumina [8736858] (imputed)	N
977	chr14	51403530	51403531	rs7142143	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	14q22.1	PYGL	rs7142143-C	0.01	7E-9		3.61	[2.34-5.57]	Affymetrix [444044]	N
977	chr14	51446770	51446771	rs1959536	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	14q22.1	PYGL, TRIM9	rs1959536-?		8E-7				Affymetrix [545513]	N
977	chr14	51495697	51495698	rs1556929	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	14q22.1	TRIM9	rs1556929-C	0.13	9E-6	(Women)	0.014684178	[0.0082-0.0212] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
981	chr14	51919821	51919822	rs7153703	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	14q22.1	FRMD6	rs7153703-?	NR	3E-6		0.006	[NR] unit increase	Illumina [478011]	N
981	chr14	52010798	52010799	rs7140150	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	14q22.1	FRMD6	rs7140150-?	0.46	5E-7				Illumina [448293]	N
982	chr14	52074206	52074207	rs12879264	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	14q22.1	NR	rs12879264-?	NR	9E-6	(Native Hawaiian)	0.2555	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
982	chr14	52077088	52077089	rs1006973	22216198	Athanasiadis G	2011-12-28	PLoS One	A genome-wide association study of the Protein C anticoagulant pathway.	Anticoagulant levels	397 European ancestry individuals from 21 families	NA	14q22.1	FRMD6	rs1006973-?	NR	8E-6	(PC)			Illumina [283437]	N
983	chr14	52233275	52233276	rs11626056	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	14q22.1	FRMD6	rs11626056-?	NR	1E-6				Illumina [516645]	N
984	chr14	52310103	52310104	rs8015138	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Non-melanoma skin cancer	6,747 European ancestry individuals	2,078 European ancestry individuals	14q22.1	GNG2	rs8015138-C	NR	7E-8		0.11	[0.071-0.149] unit decrease	Affymetrix, Illumina [7588169] (imputed)	N
984	chr14	52365773	52365774	rs1316298	24658283	Zhang R	2014-03-22	Carcinogenesis	A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility.	Lung cancer (smoking interaction)	1,506 Han Chinese ancestry smoker cases, 825 Han Chinese ancestry non-smoker cases, 1,309 Han Chinese ancestry smoker controls, 1,768 Han Chinese ancestry non-smoker controls	912 Han Chinese ancestry smoker cases, 622 Han Chinese ancestry non-smoker cases, 572 Han Chinese ancestry smoker controls, 917 Han Chinese ancestry non-smoker controls	14q22.1	GNG2, NID2, FRMD6	rs1316298-T		7E-6		1.41	[1.2-1.71]	Affymetrix [591370]	N
984	chr14	52403683	52403684	rs11625461	25584925	Chen W	2015-01-13	Ann Am Thorac Soc	A Genome-Wide Association Study of Chronic Obstructive Pulmonary Disease in Hispanics.	Chronic obstructive pulmonary disease	94 Costa Rican founder population smoker cases, 412 Costa Rican founder population smoker controls, 63 Hispanic ancestry cases, 619 Hispanic ancestry controls	47 Hispanic ancestry smoker cases, 290 Hispanic ancestry smoker controls	14q22.1	GNG2	rs11625461-C	0.89	4E-6		1.5	[NR] unit decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
985	chr14	52518810	52518811	rs730532	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	14q22.1	NID2	rs730532-?	NR	6E-6	(ppFEF)			Affymetrix [70897]	N
988	chr14	52864236	52864237	rs6572843	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	14q22.1	NR	rs6572843-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
988	chr14	52884354	52884355	rs10143866	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	14q22.1	TXNDC16	rs10143866-T	0.117	2E-6		1.472	[NR] unit decrease	Illumina [1216189] (imputed)	N
989	chr14	52989227	52989228	rs745080	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	14q22.1	TXNDC16	rs745080-?	0.55	8E-7	(CP)	1.59	[1.32-1.92]	Illumina [NR]	N
992	chr14	53372329	53372330	rs8008270	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	14q22.1	DDHD1, ERO1L, TXNDC16, FERMT2, GNPNAT1, GPR137C, PSMC6, STYX	rs8008270-G	0.82	2E-14		1.12	[1.08-1.16]	Illumina [~ 2600000] (imputed)	N
992	chr14	53400628	53400629	rs17125944	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	14q22.1	FERMT2	rs17125944-C	0.092	8E-9		1.14	[1.09-1.19]	Illumina [7055881] (imputed)	N
995	chr14	53837484	53837485	rs12434047	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (fairness)	9,617 European ancestry individuals	NA	14q22.1	intergenic	rs12434047-G	NR	3E-6		0.127	[0.074-0.180] unit decrease	Illumina [628922]	N
996	chr14	53970674	53970675	rs10130556	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	14q22.1	DDHD1, BMP4	rs10130556-G	0.41	7E-7	(EA)	0.013	[0.0071-0.0189] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
996	chr14	53970674	53970675	rs10130556	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	14q22.1	DDHD1, BMP4	rs10130556-G	0.41	5E-9		0.014	[0.010-0.018] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
997	chr14	54072857	54072858	rs1380131	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (heaviness of drinking)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	14q22.2	intergenic	rs1380131-C	0.07	9E-6		0.147	[NR] unit increase	Illumina [~ 300000]	N
998	chr14	54167471	54167472	rs210359	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	14q22.2	BMP4	rs210359-A		8E-8	(AA)			Illumina [NR]	N
999	chr14	54290829	54290830	rs12431733	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	14q22.2	BMP4	rs12431733-T	0.48	3E-6		1.13	[NR]	Illumina [463185]	N
1000	chr14	54410918	54410919	rs4444235	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	14q22.2	BMP4	rs4444235-C	0.49	5E-8		1.0869565	[1.06-1.12]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1000	chr14	54410918	54410919	rs4444235	19011631	Houlston RS	2008-11-16	Nat Genet	Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.	Colorectal cancer	1,902 European ancestry cases, 1,929 European ancestry controls	18,284 European ancestry cases, 18,926 European ancestry controls	14q22.2	BMP4	rs4444235-C	0.46	8E-10		1.11	[1.08-1.15]	Illumina [up to 548586]	N
1000	chr14	54417521	54417522	rs17563	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		14q22.2	BMP4	rs17563-G	NR	9E-17		0.239	[0.18-0.3] unit decrease	Illumina [2446724] (imputed)	N
1000	chr14	54419105	54419106	rs35107139	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	14q22.2	BMP4	rs35107139-C	0.4	2E-6		1.1	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
1001	chr14	54652478	54652479	rs1953743	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	14q22.2	ATP5C2	rs1953743-?	NR	2E-6	(Comparatively younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1002	chr14	54723922	54723923	rs2143963	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	14q22.2	CDKN3	rs2143963-C		9E-6		0.07	[0.04-0.10] unit increase	Affymetrix [~ 2500000] (imputed)	N
1003	chr14	54857285	54857286	rs4293296	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	14q22.2	CDKN3	rs4293296-?	0.29	3E-6	(quetiapine)			Affymetrix [492900]	N
1003	chr14	54876183	54876184	rs4251631	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	14q22.2	GMFB, BMP4, CGRRF1, CDKN3, CNIH	rs4251631-?	NR	2E-7	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1003	chr14	54876183	54876184	rs4251631	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	14q22.2	GMFB, BMP4, CGRRF1, CDKN3, CNIH	rs4251631-?	NR	2E-6				Affymetrix, Illumina [~ 1400000] (imputed)	N
1005	chr14	55122917	55122918	rs17127713	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q22.2	SAMD4A	rs17127713-G	0.018	3E-6	(SBP )	0.03	[NR] mmHg increase	Illumina [899892]	N
1005	chr14	55176343	55176344	rs17657012	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	14q22.2	NR	rs17657012-?		9E-6	(AA)			Illumina [up to 524000]	N
1007	chr14	55348117	55348118	rs3783637	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q22.2	GCH1	rs3783637-A	0.121	6E-8	(Urinary free dopamine: creatinine)	0.05	[NR] unit increase	Illumina [899892]	N
1007	chr14	55348117	55348118	rs3783637	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q22.2	GCH1	rs3783637-A	0.121	1E-6	(Urinary free dopamine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
1007	chr14	55348117	55348118	rs3783637	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	14q22.2	GCH1	rs3783637-C	0.74	2E-6		1.1	[1.06-1.14]	Affymetrix, Illumina [1948139]	N
1007	chr14	55348868	55348869	rs11158026	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	14q22.2	GCH1	rs11158026-C	0.665	6E-11		1.11	[1.08-1.14]	Illumina [7893274] (imputed)	N
1008	chr14	55483785	55483786	rs28489712	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	14q22.3	WDHD1	rs28489712-?		3E-6	(EA)	31.7	[NR]	Illumina [936149]	N
1009	chr14	55614635	55614636	rs2274273	23056639	de Boer RA	2012-10-09	PLoS One	A genome-wide association study of circulating galectin-3.	Protein biomarker	3,776 European ancestry individuals	3,516 individuals	14q22.3	LGALS3, DLGAP5	rs2274273-A	0.41	2E-188	(Galectin-3)	0.185	[0.17-0.20] unit decrease	Illumina [2269099] (imputed)	N
1013	chr14	56200472	56200473	rs945270	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	14q22.3	KTN1	rs945270-C	0.58	1E-33	(Putamen, EA)	48.89	[40.97-56.81] mm3 increase	Affymetrix, Illumina [NR] (imputed)	N
1014	chr14	56231799	56231800	rs7494275	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)	106 Japanese ancestry cases, 187 Japanese ancestry controls	NA	14q22.3	RPL13AP3	rs7494275-C	0.406	9E-6	(Recessive model)	1.732	[1.232-2.433]	Illumina [733202]	N
1014	chr14	56333512	56333513	rs7350721	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	14q22.3	PELI2, LOC645687	rs7350721-C	0.09	6E-7	(AA, smoking, years)	0.41	[0.25-0.58] unit increase	Affymetrix [706791]	N
1014	chr14	56333512	56333513	rs7350721	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	14q22.3	PELI2, LOC645687	rs7350721-C	0.09	2E-6	(AA, Smoking, ever/never)	0.02	[0.01-0.02] unit increase	Affymetrix [706791]	N
1015	chr14	56361737	56361738	rs35862341	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	14q22.3	intergenic	rs35862341-C	0.9866	4E-6	(Complete)	1.521	[0.87-2.17] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1015	chr14	56393105	56393106	rs4898878	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Height	2,754 Bangladeshi ancestry females, 2,590 Bangladeshi ancestry males	NA	14q22.3	LINC00520, PELI2	rs4898878-A	0.709	9E-7		0.006	[0.0040-0.0080] m increase	Illumina [1208102] (imputed)	N
1015	chr14	56418118	56418119	rs10151037	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q22.3	LINC00520	rs10151037-A	0.24	8E-6	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
1016	chr14	56525568	56525569	rs398652	21460395	Gu J	2011-04-02	Cancer Prev Res (Phila)	A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer.	Telomere length	459 individuals	1,160 individuals	14q22.3	PELI2	rs398652-?	NR	2E-6		0.12	[NR] unit increase	Illumina [312531]	N
1019	chr14	56886685	56886686	rs17832777	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	14q22.3	PELI2	rs17832777-C	0.17	6E-6	(TNFA)			Illumina [588352]	N
1021	chr14	57221138	57221139	rs878889	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	14q22.3	intergenic	rs878889-A	0.13	8E-7	(ESRD)	1.43	[1.24-1.65]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1024	chr14	57607066	57607067	rs7144018	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		14q22.3	NR	rs7144018-G	0.1	9E-6	(t4;14 vs. controls)	1.85	[1.41-2.44]	Illumina [414804] (imputed)	N
1024	chr14	57669532	57669533	rs11851015	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		14q22.3	EXOC5	rs11851015-?	0.15	9E-6		0.11	[0.071-0.149] unit increase	Illumina [4058415] (imputed)	N
1026	chr14	57822215	57822216	rs7144649	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		14q22.3	intergenic	rs7144649-?	0.23	4E-6		0.09	[0.051-0.129] unit increase	Illumina [4058415] (imputed)	N
1028	chr14	58119195	58119196	rs10134944	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	14q23.1	NR	rs10134944-?	NR	1E-6	(dominant)			Affymetrix [NR]	N
1028	chr14	58119195	58119196	rs10134944	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	14q23.1	NR	rs10134944-T	0.09	7E-6		1.45	[1.24-1.68]	Affymetrix [469557]	N
1029	chr14	58200724	58200725	rs1092015	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	14q23.1	NR	rs1092015-?	NR	8E-6		2.0443	[NR]	Affymetrix [722112]	N
1030	chr14	58355047	58355048	rs8013190	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	14q23.1	intergenic	rs8013190-?	NR	7E-8	(progression)			Illumina [NR]	N
1030	chr14	58385364	58385365	rs1335515	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	14q23.1	intergenic	rs1335515-C	NR	8E-6	(earlier onset)			Perlegen [429981]	N
1030	chr14	58397915	58397916	rs808225	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	14q23.1	intergenic	rs808225-?	NR	7E-6	(ppfefrat)			Affymetrix [70897]	N
1031	chr14	58559240	58559241	rs4901847	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	14q23.1	C14orf37	rs4901847-T	NR	2E-6	(Additive)	1.48	[1.28-1.71]	Affymetrix, Illumina [1621689] (imputed)	N
1031	chr14	58576319	58576320	rs11158198	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	14q23.1	C14orf37	rs11158198-C	0.492	2E-6	(Primary)	0.286	[0.17-0.4] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1036	chr14	59189360	59189361	rs17094983	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	14q23.1	intergenic	rs17094983-?	0.13	3E-6		1.13	[1.08-1.20]	Affymetrix, Illumina [2708280] (imputed)	N
1037	chr14	59334127	59334128	rs4901869	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	14q23.1	intergenic	rs4901869-?	0.02	6E-6				Affymetrix [253903]	N
1037	chr14	59366314	59366315	rs405460	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q23.1	LOC440181	rs405460-A	0.418	6E-7	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1040	chr14	59751829	59751830	rs35209784	25483131	Ghassibe-Sabbagh M	2014-12-08	Sci Rep	T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.	Type 2 diabetes	1,384 Lebanese ancestry cases, 1,902 Lebanese ancestry controls	NA	14q23.1	DAAM1	rs35209784-T	0.01	5E-6		3.57	[1.92-6.25]	Illumina [5891794] (imputed)	N
1042	chr14	59965292	59965293	rs111803315	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q23.1	NR	rs111803315-G	NR	3E-6		1.1111112	[NR]	Illumina [7158791] (imputed)	N
1044	chr14	60166021	60166022	rs12431410	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q23.1	NR	rs12431410-C	NR	6E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1047	chr14	60683429	60683430	rs216518	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	Allergic rhinitis	3,933 European ancestry cases, 8,965 European ancestry controls	NA	14q23.1	PPM1A, DHRS7	rs216518-A	0.15	2E-6		1.21	[1.12-1.31]	Affymetrix, Illumina [2217510] (imputed)	N
1048	chr14	60789175	60789176	rs4901977	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	14q23.1	SIX1, SIX6	rs4901977-T	NR	2E-16		0.011	[0.0090-0.0130] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1049	chr14	60903756	60903757	rs1254319	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	14q23.1	SIX6	rs1254319-A	0.32	1E-8		0.088	[0.059-0.117] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1049	chr14	60920524	60920525	rs1254337	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	14q23.1	SIX6	rs1254337-T	0.31	2E-16		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1050	chr14	60957278	60957279	rs2093210	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	14q23.1	SIX6	rs2093210-T	0.25	2E-7		0.025	[0.011-0.039] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1050	chr14	60957278	60957279	rs2093210	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	14q23.1	C14orf39	rs2093210-T	0.581	3E-35		0.039	[0.033-0.045] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1050	chr14	60957278	60957279	rs2093210	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	14q23.1	C14orf39	rs2093210-C	0.42	8E-13		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1050	chr14	60957278	60957279	rs2093210	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	14q23.1	SIX6	rs2093210-T	0.58	6E-17		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1050	chr14	61072874	61072875	rs10483727	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	14q23.1	SIX6	rs10483727-T	0.40	1E-7		0.023	[0.015-0.031] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1050	chr14	61072874	61072875	rs10483727	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	14q23.1	SIX6	rs10483727-T	0.4	4E-17	(EA)	0.022	[0.016-0.028] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1050	chr14	61072874	61072875	rs10483727	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	14q23.1	SIX6	rs10483727-T	0.4	2E-27		0.026	[0.022-0.030] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1050	chr14	61072874	61072875	rs10483727	25173105	Gharahkhani P	2014-08-31	Nat Genet	Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.	Glaucoma (primary open-angle)	1,155 European ancestry cases, 1,922 European ancestry controls	3,548 European ancestry cases, 9,496 European ancestry controls	14q23.1	SIX6	rs10483727-T	NR	2E-17		1.32	[1.26-1.38]	Illumina [7594768] (imputed)	N
1050	chr14	61072874	61072875	rs10483727	22570617	Wiggs JL	2012-04-26	PLoS Genet	Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.	Glaucoma (primary open-angle)	3,146 European ancestry cases, 3,487 European ancestry controls	NA	14q23.1	SIX6, SIX1	rs10483727-A	NR	4E-11		1.32	[1.21-1.43]	Illumina [495132] (imputed)	N
1050	chr14	61072874	61072875	rs10483727	22419738	Osman W	2012-03-22	Hum Mol Genet	A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.	Glaucoma (primary open-angle)	1,394 Japanese ancestry cases, 6,599 Japanese ancestry controls	1,802 Japanese ancestry cases, 7,212 Japanese ancestry controls	14q23.1	SIX6, SIX1	rs10483727-T	0.768	9E-8		1.27	[1.18-1.37]	Illumina [602216]	N
1050	chr14	61072874	61072875	rs10483727	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Vertical cup-disc ratio	7,360 European ancestry individuals	4,455 European ancestry individuals	14q23.1	SIX1	rs10483727-T	0.41	1E-11		0.01	[0.008-0.016] mm2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1050	chr14	61072874	61072875	rs10483727	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (rim area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	14q23.1	SIX1	rs10483727-C	NR	9E-6		0.151	[0.063-0.239] unit increase	Illumina [~ 2740000] (imputed)	N
1051	chr14	61122525	61122526	rs7153648	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	14q23.1	SIX1	rs7153648-C	0.06	2E-9		1.11	[1.07-1.14]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1052	chr14	61308336	61308337	rs6573333	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	14q23.1	MNAT1	rs6573333-A		3E-10	(EA)			Illumina [NR]	N
1054	chr14	61595746	61595747	rs79578553	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	Red wine liking	398 Carlantino individuals, 751 Friuli Venezia Giulia individuals, 1,122 Val Borbera individuals	1,246 Erasmus Rucphen Family individuals, 353 Silk Road individuals	14q23.1	NR	rs79578553-A	NR	5E-6		0.14	[NR] unit decrease	Illumina [6967159] (imputed)	N
1055	chr14	61729492	61729493	rs76788097	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	14q23.1	intergenic	rs76788097-G	0.062	2E-6		1.53	[1.28-1.82]	Illumina [611856]	N
1055	chr14	61734639	61734640	rs7141238	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q23.1	TMEM30B	rs7141238-C	0.155	3E-6	(Hip circumference change )	0.04	[NR] cm/y increase	Illumina [899892]	N
1057	chr14	61895044	61895045	rs11158345	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		14q23.1	PRKCH	rs11158345-T	0.82	3E-6		0.084	[0.049-0.119] unit increase	Illumina [~ 2400000] (imputed)	N
1057	chr14	61898838	61898839	rs17098356	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	14q23.1	PRKCH	rs17098356-?	NR	6E-6				Illumina [~ 2400000] (imputed)	N
1057	chr14	61908110	61908111	rs1957894	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	14q23.1	PRKCH	rs1957894-T	0.06	3E-10		1.5	[1.32-1.70]	Affymetrix [~ 2000000] (imputed)	N
1057	chr14	61908331	61908332	rs1957895	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	14q23.1	PRKCH	rs1957895-G	0.39	4E-7		1.09	[1.05-1.13]	Affymetrix, Illumina [1948139]	N
1057	chr14	61940674	61940675	rs3783782	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	14q23.1	PRKCH	rs3783782-A	0.22	4E-9	(East Asian)	1.14	[1.09-1.19]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1057	chr14	61940674	61940675	rs3783782	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	14q23.1	PRKCH	rs3783782-A	0.09	2E-9		1.14	[1.09-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1059	chr14	62185294	62185295	rs8005745	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	14q23.2	intergenic	rs8005745-?	NR	4E-6	(CD40L)			Affymetrix [70897]	N
1061	chr14	62432012	62432013	rs2784505	24688116	Deelen J	2014-03-31	Hum Mol Genet	Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.	Longevity (90 years and older)	5,406 European ancestry cases, 15,112 European ancestry controls	7,330 European ancestry cases, 61,156 European ancestry controls	14q23.2	SYT16	rs2784505-G	0.066	9E-6		1.15	[1.08-1.22]	Illumina [2470825] (imputed)	N
1061	chr14	62518347	62518348	rs6573416	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	14q23.2	SYT16	rs6573416-G	0.13	3E-6		0.03	[NR] unit increase	Illumina [2380486] (imputed)	N
1062	chr14	62549818	62549819	rs4902100	24478790	Lee JH	2014-01-17	Front Genet	Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.	Telomere length	4,829 European ancestry individuals from 586 families with exceptional longevity	NA	14q23.2	SYT16	rs4902100-G	0.283	4E-6			[NR]	Illumina [9250000] (imputed)	N
1062	chr14	62553256	62553257	rs8014067	25705159	Hong Y	2014-12-31	Genomics Inform	Genome-wide association study of hepatitis in korean populations.	Hepatitis	1,500 Korean ancestry cases, 1,500 Korean ancestry controls	NA	14q23.2	SYT16	rs8014067-?	NR	3E-9		1.6949153	[NR]	NR [352000]	N
1063	chr14	62654697	62654698	rs973968	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	411 European ancestry individuals from 150 families	NA	14q23.2	Q6ZUR9	rs973968-?	NR	3E-6	(transferrin saturation)			Affymetrix [100846]	N
1063	chr14	62678302	62678303	rs1514928	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	14q23.2	intergenic	rs1514928-?	NR	3E-6	(binary)			Perlegen [429981]	N
1063	chr14	62732663	62732664	rs10146615	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	14q23.2	intergenic	rs10146615-T	NR	7E-6		0.138	[0.077-0.199] unit decrease	Illumina [628922]	N
1065	chr14	62968394	62968395	rs4902141	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	14q23.2	NR	rs4902141-?	0.026	1E-7		2.161	[1.629-2.867] unit increase	Illumina [563945]	N
1066	chr14	63047682	63047683	rs76513344	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	14q23.2	KCNH5	rs76513344-C	NR	2E-9		0.0995	[NR] unit decrease	Illumina [11892802] (imputed)	N
1067	chr14	63177143	63177144	rs869834	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	14q23.2	KCNH5	rs869834-T	0.59	2E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1068	chr14	63322346	63322347	rs8012941	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	14q23.2	KCNH5	rs8012941-G	0.4975174	4E-6	(remission - SSRI treated - 12 weeks)	1.5387	[1.35-1.72]	Affymetrix, Illumina [1200000] (imputed)	N
1068	chr14	63356252	63356253	rs10136789	24348519	Namjou B	2013-12-03	Front Genet	EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.	Body mass index	up to 2,860 European ancestry children	NA	14q23.2	KCNH5	rs10136789-?	NR	5E-7		5.05	[NR] z score increase	Affymetrix, Illumina [up to 583824] (imputed)	N
1072	chr14	63953521	63953522	rs11158493	21659360	Wade R	2011-06-09	Haematologica	Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.	Response to antineoplastic agents	356 European ancestry cases	380 European ancestry cases	14q23.2	PPP2R5E	rs11158493-?	NR	9E-7		2.0	[1.56-2.56]	Illumina [326385]	N
1073	chr14	64047261	64047262	rs118166657	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	14q23.2	WDR89	rs118166657-?	0.02	1E-7		7.2	[NR]	Affymetrix [4893794] (imputed)	N
1075	chr14	64232385	64232386	rs17101394	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	14q23.2	SGPP1	rs17101394-?	NR	3E-57	(levels)	0.0	[0.70-6.3] % increase	Illumina [NR] (imputed)	N
1075	chr14	64234242	64234243	rs4902243	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	14q23.2	SGPP1	rs4902243-A	0.86	3E-37	(X-10510)	0.044	[0.036-0.052] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1075	chr14	64235555	64235556	rs7157785	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	14q23.2	SGPP1	rs7157785-T	0.1547	4E-63	(Phosphatidylcholine diacyl C28:1)	0.1105	[0.098-0.123] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1075	chr14	64235555	64235556	rs7157785	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	14q23.2	SGPP1	rs7157785-T	0.16	1E-133	(X-08402/cholesterol)	0.065	[0.059-0.071] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1075	chr14	64235555	64235556	rs7157785	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	14q23.2	SGPP1	rs7157785-T	0.16	7E-87	(X-08402)	0.068	[0.062-0.074] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1075	chr14	64235555	64235556	rs7157785	19798445	Hicks AA	2009-10-02	PLoS Genet	Genetic determinants of circulating sphingolipid concentrations in European populations.	Sphingolipid levels	4,110 European ancestry individuals	NA	14q23.2	SGPP1	rs7157785-A	0.19	9E-66	(SM 14:0Mol%)	0.0	[0.001-0.002] mol % increase	Illumina [318237]	N
1075	chr14	64275811	64275812	rs7144584	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	14q23.2	SYNE2	rs7144584-?	NR	6E-7	(FEV1/FVC decline in asthmatics)	0.3177	[0.19-0.44] unit decrease	Illumina [~ 2500000] (imputed)	N
1078	chr14	64680847	64680848	rs1152591	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	14q23.2	SYNE2	rs1152591-A	0.48	6E-13		1.13	[1.09-1.17]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1078	chr14	64693911	64693912	rs58262369	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	14q23.2	ESR2	rs58262369-T	0.072	6E-10		1.28	[NR]	Illumina [4550396] (imputed)	N
1080	chr14	64899054	64899055	rs10498514	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	14q23.3	MTHFD1	rs10498514-?	0.01817	8E-7	(SWM strategy)			Illumina [475971]	N
1082	chr14	65240948	65240949	rs11158559	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q23.3	SPTB	rs11158559-A	0.148	6E-6	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
1082	chr14	65240948	65240949	rs11158559	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q23.3	SPTB	rs11158559-A	0.148	1E-6	(Leptin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1083	chr14	65319360	65319361	rs35955841	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	14q23.3	NR	rs35955841-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1084	chr14	65473195	65473196	rs7148590	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	14q23.3	MAX, FNTB	rs7148590-?	NR	1E-7		0.14	[0.089-0.191] unit increase	Illumina [> 2500000] (imputed)	N
1084	chr14	65475539	65475540	rs4466998	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	14q23.3	FNTB	rs4466998-A	NR	5E-8		0.0	[0.001-0.003] fl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1084	chr14	65502238	65502239	rs7155454	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	14q23.3	MAX, FNTB	rs7155454-A	0.51	2E-12	(EA, MCH)	0.002	[-0.00584-0.00984] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1085	chr14	65604727	65604728	rs17102423	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q23.3	MAX	rs17102423-A	0.2	4E-7	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1085	chr14	65645249	65645250	rs7158173	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	14q23.3	MAX	rs7158173-?	0.48	4E-6	(waist circumference)	0.11	[0.06-0.16] mm decrease	Illumina [316730]	N
1086	chr14	65747758	65747759	rs1256531	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	14q23.3	intergenic	rs1256531-G	0.234	4E-6		0.09	[NR] unit increase	Illumina [948658]	N
1086	chr14	65758641	65758642	rs7159888	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	NR	rs7159888-G	0.550559034728406	2E-6	(IGP62)	0.1465	[0.086-0.207] unit increase	Illumina [~ 2500000] (imputed)	N
1086	chr14	65758641	65758642	rs7159888	21203500	Lauc G	2010-12-23	PLoS Genet	Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation.	N-glycan levels	2,559 European ancestry individuals	NA	14q23.3	FUT8	rs7159888-A	0.44	3E-18	(DG1)	0.26	[0.20-0.32] unit increase	Illumina [~ 300000]	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	NR	rs11847263-G	0.393307344254937	2E-13	(IGP46)	0.2328	[0.17-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.394040135631155	5E-15	(IGP6)	0.2482	[0.19-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.394003751805054	6E-6	(IGP77)	0.1425	[0.081-0.204] unit increase	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.393717723953695	1E-10	(IGP65)	0.2023	[0.14-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.393668566146993	3E-8	(IGP63)	0.1747	[0.11-0.24] unit decrease	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.393609222420723	2E-6	(IGP21)	0.1501	[0.089-0.211] unit increase	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.39336899642538	2E-19	(IGP58)	0.2852	[0.22-0.35] unit decrease	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.393211372416891	3E-14	(IGP60)	0.2402	[0.18-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.393162371823451	3E-17	(IGP61)	0.2676	[0.21-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.393000049217002	1E-22	(IGP59)	0.3124	[0.25-0.37] unit decrease	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.392332365307037	2E-13	(IGP51)	0.2323	[0.17-0.29] unit increase	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.391757509628303	7E-14	(IGP11)	0.2381	[0.18-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.391170597752809	3E-21	(IGP42)	0.3025	[0.24-0.37] unit increase	Illumina [~ 2500000] (imputed)	N
1086	chr14	65775694	65775695	rs11847263	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q23.3	FUT8	rs11847263-G	0.390847885290148	8E-20	(IGP2)	0.2915	[0.23-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
1087	chr14	65865624	65865625	rs7147624	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	14q23.3	FUT8	rs7147624-T	0.15	5E-6	(TNFA)			Illumina [588352]	N
1087	chr14	65914866	65914867	rs10483776	21203500	Lauc G	2010-12-23	PLoS Genet	Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation.	N-glycan levels	2,559 European ancestry individuals	NA	14q23.3	FUT8	rs10483776-G	0.21	1E-8	(DG6)	0.22	[0.14-0.30] unit decrease	Illumina [~ 300000]	N
1088	chr14	66036794	66036795	rs1958560	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	14q23.3	FUT8	rs1958560-A	0.59	4E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1090	chr14	66262962	66262963	rs8007846	20802204	Baranzini SE	2010-09-01	Brain	Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.	Multiple sclerosis--Brain Glutamate Levels	382 cases	NA	14q23.3	FUT8	rs8007846-?	NR	9E-6				Illumina [~ 500000]	N
1090	chr14	66287909	66287910	rs7494064	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q23.3	FUT8	rs7494064-G	0.048	8E-6	(Head circumference )	0.04	[NR] cm increase	Illumina [899892]	N
1090	chr14	66315882	66315883	rs11625793	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q23.3	NR	rs11625793-G	NR	5E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1099	chr14	67453857	67453858	rs8020095	23290196	Hek K	2013-01-02	Biol Psychiatry	A genome-wide association study of depressive symptoms.	Depression (quantitative trait)	up to 34,549 European ancestry individuals	up to 16,709 European ancestry individuals	14q23.3	GPHN	rs8020095-A	0.17	3E-6				Affymetrix, Illumina [2391896] (imputed)	N
1100	chr14	67529619	67529620	rs146647518	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Tandem gait	2,946 individuals	NA	14q23.3	GPHN	rs146647518-A	0.06	2E-7	(Sum sidestep distance)	8.183	[5.12-11.24] unit increase	Illumina [6200000] (imputed)	N
1103	chr14	67939482	67939483	rs17104363	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q24.1	TMEM229B	rs17104363-G	0.05	5E-8	(Dinner intake, adj EER )	0.04	[NR] kcal increase	Illumina [899892]	N
1103	chr14	67975821	67975822	rs1077989	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	14q24.1	TMEM229B	rs1077989-A	0.5294	9E-57	(Phosphatidylcholine acyl-alkyl C32:1)	0.0653	[0.057-0.073] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1103	chr14	67975821	67975822	rs1077989	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	14q24.1	TMEM229B	rs1077989-A	0.5293	6E-40	(Phosphatidylcholine acyl-alkyl C36:5)	0.0636	[0.054-0.073] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1103	chr14	67975821	67975822	rs1077989	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	14q24.1	TMEM229B	rs1077989-A	0.5292	1E-45	(Phosphatidylcholine acyl-alkyl C32:2)	0.0603	[0.052-0.069] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
1103	chr14	67975821	67975822	rs1077989	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	14q24.1	PLEKHH1	rs1077989-?	NR	9E-18	(levels)	0.0	[0.80-1.80] % increase	Illumina [NR] (imputed)	N
1103	chr14	67984369	67984370	rs1555399	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	14q24.1	TMEM229B	rs1555399-T	0.532	7E-14		1.1148	[1.09-1.14]	Illumina [7893274] (imputed)	N
1104	chr14	68066488	68066489	rs7149859	25890600	Guo Q	2015-04-18	J Natl Cancer Inst	Identification of novel genetic markers of breast cancer survival.	Breast cancer (survival)	23,059 European ancestry estrogen-receptor positive cases, 6,881 European ancestry estrogen-receptor negative cases, 8,014 European ancestry cases		14q24.1	NR	rs7149859-?		7E-7	(ER +ve)	1.22	[1.13-1.33]	Affymetrix, Illumina [9000000] (imputed)	N
1105	chr14	68243074	68243075	rs12891047	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	14q24.1	ZFYVE26	rs12891047-?		6E-7				Illumina [859311]	N
1107	chr14	68520905	68520906	rs8022206	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	14q24.1	RAD51L1	rs8022206-G	NR	2E-10		3.197	[2.22-4.18] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1108	chr14	68660427	68660428	rs2588809	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	14q24.1	RAD51L1	rs2588809-T	0.16	1E-10		1.08	[1.05-1.11]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1109	chr14	68699593	68699594	rs1314913	23001122	Orr N	2012-09-23	Nat Genet	Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.	Breast cancer (male)	823 European ancestry cases, 2,795 European ancestry controls	438 European ancestry cases, 474 European ancestry controls	14q24.1	RAD51B	rs1314913-?	NR	3E-13		1.57	[1.39-1.77]	Illumina [447760]	N
1109	chr14	68749926	68749927	rs3784099	22232737	Shu XO	2012-01-09	Cancer Res	Novel genetic markers of breast cancer survival identified by a genome-wide association study.	Breast cancer (survival)	1,950 Chinese ancestry cases	4,160 Chinese ancestry cases	14q24.1	RAD51L1	rs3784099-A	NR	3E-7	(Recurrence)	1.43	[1.25-1.64]	Affymetrix [613031]	N
1109	chr14	68749926	68749927	rs3784099	22232737	Shu XO	2012-01-09	Cancer Res	Novel genetic markers of breast cancer survival identified by a genome-wide association study.	Breast cancer (survival)	1,950 Chinese ancestry cases	4,160 Chinese ancestry cases	14q24.1	RAD51L1	rs3784099-A	NR	1E-7	(Total Mortality)	1.49	[1.28-1.72]	Affymetrix [613031]	N
1109	chr14	68752642	68752643	rs8008961	24236485	Cornejo-Garcia JA	2013-11-01	Pharmacogenomics	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	112 European ancestry cases, 124 European ancestry controls, 120 Han Chinese ancestry cases, 101 Han Chinese ancestry controls	NA	14q24.1	RAD51L1	rs8008961-A	0.2944	6E-6	(EA)	2.44	[1.67-3.56]	Affymetrix [up to 644046]	N
1109	chr14	68753592	68753593	rs911263	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	14q24.1	RAD51L1	rs911263-T	0.71	2E-11		1.29	[1.20-1.39]	Illumina [507467]	N
1109	chr14	68760140	68760141	rs1950897	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	14q24.1	RAD51B	rs1950897-T	0.76	8E-11		1.1	[1.07-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1109	chr14	68760140	68760141	rs1950897	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	14q24.1	RAD51B	rs1950897-T	0.71	5E-8	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1109	chr14	68785076	68785077	rs8017304	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	14q24.1	RAD51B	rs8017304-A	0.61	9E-11		1.11	[1.08-1.14]	Affymetrix, Illumina [2442884] (imputed)	N
1109	chr14	68788923	68788924	rs1956529	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (number of teeth)	5,752 European ancestry related individuals	NA	14q24.1	RAD51L1	rs1956529-T	0.38	3E-8		0.51	% variance	Illumina [300766]	N
1110	chr14	68813114	68813115	rs1570106	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	14q24.1	RAD51L1	rs1570106-T	0.2	8E-9		0.026	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1111	chr14	68963745	68963746	rs765899	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	14q24.1		rs765899-?,rs737387-?,rs2842347-?,rs757369-?,rs10132579-?,rs2842346-?	0.95	2E-6	(Haplotype - ??????)	1.67	[1.35-2.08]	Illumina [1006480]	N
1111	chr14	68967381	68967382	rs737387	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	14q24.1		rs765899-?,rs737387-?,rs2842347-?,rs757369-?,rs10132579-?,rs2842346-?	0.95	2E-6	(Haplotype - ??????)	1.67	[1.35-2.08]	Illumina [1006480]	N
1111	chr14	68971775	68971776	rs2842347	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	14q24.1		rs765899-?,rs737387-?,rs2842347-?,rs757369-?,rs10132579-?,rs2842346-?	0.95	2E-6	(Haplotype - ??????)	1.67	[1.35-2.08]	Illumina [1006480]	N
1111	chr14	68973545	68973546	rs757369	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	14q24.1		rs765899-?,rs737387-?,rs2842347-?,rs757369-?,rs10132579-?,rs2842346-?	0.95	2E-6	(Haplotype - ??????)	1.67	[1.35-2.08]	Illumina [1006480]	N
1111	chr14	68974276	68974277	rs10132579	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	14q24.1		rs765899-?,rs737387-?,rs2842347-?,rs757369-?,rs10132579-?,rs2842346-?	0.95	2E-6	(Haplotype - ??????)	1.67	[1.35-2.08]	Illumina [1006480]	N
1111	chr14	68975373	68975374	rs2842346	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	14q24.1		rs765899-?,rs737387-?,rs2842347-?,rs757369-?,rs10132579-?,rs2842346-?	0.95	2E-6	(Haplotype - ??????)	1.67	[1.35-2.08]	Illumina [1006480]	N
1111	chr14	68986156	68986157	rs11624164	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q24.1	RAD51L1	rs11624164-A	0.177	5E-6	(HDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1111	chr14	69034681	69034682	rs999737	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	14q24.1	RAD51L1	rs999737-C	0.77	3E-19		1.09	[1.06-1.11]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1111	chr14	69034681	69034682	rs999737	19330030	Thomas G	2009-03-29	Nat Genet	A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).	Breast cancer	1,145 European ancestry cases, 1,142 European ancestry controls	8,625 European ancestry cases, 9,657 European ancestry controls	14q24.1	RAD51L1	rs999737-C	0.76	2E-7		1.06	[1.01-1.14] (Het)	Illumina [528173]	N
1112	chr14	69126743	69126744	rs7141529	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	14q24.1	RAD51B, ZFP36L1, ACTN1	rs7141529-G	0.5	3E-10		1.09	[1.06-1.12]	Illumina [~ 2600000] (imputed)	N
1113	chr14	69210198	69210199	rs4902642	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	14q24.1	ZFP36L1	rs4902642-G	0.584	2E-10		1.07	[1.11-1.04]	Affymetrix, Illumina [953241] (imputed)	N
1113	chr14	69254190	69254191	rs4902647	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	14q24.1	ZFP36L1	rs4902647-G	NR	9E-12		1.11	[1.1-1.13]	Illumina [465434]	N
1113	chr14	69263598	69263599	rs1465788	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	14q24.1	intergenic	rs1465788-?	0.71	2E-12		1.16	[1.10-1.25]	Affymetrix, Illumina [841622] (imputed)	N
1113	chr14	69271783	69271784	rs10142466	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	14q24.1	NR	rs10142466-?	NR	1E-8	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1113	chr14	69273904	69273905	rs194749	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	14q24.1	NR	rs194749-G	0.2289	1E-7	(EA)	1.0796018	[1.05-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1113	chr14	69273904	69273905	rs194749	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	14q24.1	ZFP36L1	rs194749-C	0.226	3E-10		1.075	[1.039-1.111]	Affymetrix, Illumina [1230000] (imputed)	N
1113	chr14	69278203	69278204	rs4899260	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	14q24.1	ZFP36L1	rs4899260-A	0.26	4E-7		1.12	[1.07-1.16]	Illumina [292387]	N
1113	chr14	69314058	69314059	rs434943	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	14q24.1	ACTN1	rs434943-A	0.31	1E-8	(EA)	0.007	[0.005-0.009] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
1114	chr14	69360630	69360631	rs12050161	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	14q24.1	ACTN1	rs12050161-T	0.84	4E6	(Age 20-60 years)	0.07	[0.040-0.100] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1114	chr14	69408696	69408697	rs2268983	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	14q24.1	ACTN1	rs2268983-?	0.51	7E-6	(CPDBI)	1.52	[NR]	Illumina [~ 518000]	N
1117	chr14	69794550	69794551	rs12894211	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q24.1	GALNTL1	rs12894211-C	0.757	5E-6		0.021	[0.012-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1117	chr14	69794550	69794551	rs12894211	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q24.1	GALNTL1	rs12894211-C	0.756	7E-6	(EA)	0.021	[0.012-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1121	chr14	70347347	70347348	rs11158820	23263445	Lawrance-Owen AJ	2012-12-22	Hum Genet	Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio.	Digit length ratio	979 European ancestry individuals	(see Medland, 2010)	14q24.2	SMOC	rs11158820-?	NR	2E-11				Illumina [642758]	N
1121	chr14	70365923	70365924	rs11627546	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	14q24.2	SMOC1	rs11627546-C	0.84	1E-9	(EA, MCV)	0.162	[0.099-0.225] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1122	chr14	70456698	70456699	rs227425	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	14q24.2	SMOC1	rs227425-G	0.53	4E-7	(spine, EA)			Affymetrix, Illumina [5842825] (imputed)	N
1122	chr14	70456698	70456699	rs227425	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	14q24.2	SMOC1	rs227425-G	0.53	4E-13	(spine)	2.2	[NR] unit decrease	Affymetrix, Illumina [5842825] (imputed)	N
1122	chr14	70456698	70456699	rs227425	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	14q24.2	SMOC1	rs227425-G	0.53	2E-6	(hip)	1.5	[NR] unit decrease	Affymetrix, Illumina [5842825] (imputed)	N
1122	chr14	70456698	70456699	rs227425	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	14q24.2	SMOC1	rs227425-G	0.48	1E-6	(spine, East Asian)			Affymetrix, Illumina [5842825] (imputed)	N
1122	chr14	70502049	70502050	rs17175227	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	14q24.2	SMOC1	rs17175227-G	0.98	9E-9		7.1429	[NR]	Affymetrix [up to 4467279] (imputed)	N
1123	chr14	70517182	70517183	rs12883884	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	14q24.2	SLC8A3	rs12883884-T	0.61	8E-6				Illumina [~ 2609000] (imputed)	N
1123	chr14	70620641	70620642	rs4899329	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q24.2	NR	rs4899329-C	0.399541382287494	5E-6	(IGP67)	0.142	[0.081-0.203] unit increase	Illumina [~ 2500000] (imputed)	N
1123	chr14	70644168	70644169	rs7146198	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	14q24.2	SLC8A3	rs7146198-A	NR	4E-6		0.048	[0.028-0.068] mm increase	Illumina [1704858] (imputed)	N
1125	chr14	70881488	70881489	rs10143078	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	14q24.2	SYNJ2BP	rs10143078-C	0.04	6E-7	(EA, SBP, Age 20-29)	4.06	[2.47-5.65] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1127	chr14	71092255	71092256	rs8014671	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	14q24.2	TTC9	rs8014671-G	0.59	3E-7		1.06	[1.04-1.08]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1127	chr14	71092255	71092256	rs8014671	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	14q24.2	TTC9	rs8014671-G	0.59	1E-8	(EA)	1.07	[1.05-1.10]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1128	chr14	71249801	71249802	rs17108533	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	14q24.2	MAP3K9	rs17108533-?	0.10	1E-6	(quetiapine)			Affymetrix [492900]	N
1129	chr14	71352647	71352648	rs36563	19581569	Treutlein J	2009-07-01	Arch Gen Psychiatry	Genome-wide association study of alcohol dependence.	Alcohol dependence	476 European ancestry cases, 1,358 European ancestry controls	1,024 European ancestry cases, 996 European ancestry controls	14q24.2	intergenic	rs36563-A	0.15	5E-6		1.33	[1.18-1.50]	Illumina [524396]	N
1129	chr14	71395603	71395604	rs2810114	22004471	Frank J	2011-10-18	Addict Biol	Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.	Alcohol dependence	1,333 European ancestry male cases, 2,168 European ancestry male controls	NA	14q24.2	NR	rs2810114-?	NR	4E-6		1.29	[1.16-1.44]	Illumina [463044]	N
1130	chr14	71472225	71472226	rs67981189	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q24.2	NR	rs67981189-G	NR	2E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1130	chr14	71507600	71507601	rs11848070	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	14q24.2	PCNX	rs11848070-C	0.25	6E-6				Affymetrix [614963]	N
1131	chr14	71648071	71648072	rs917063	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	14q24.2	intergenic	rs917063-?	NR	1E-6	(Additive model)	0.34	unit decrease	Illumina [542562]	N
1131	chr14	71666296	71666297	rs17767225	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	14q24.2	intergenic	rs17767225-T	0.2	8E-6				Affymetrix [614963]	N
1131	chr14	71673151	71673152	rs56193103	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	14q24.2	PCNX	rs56193103-T	0.35	2E-6	(Right HG area)	5.52	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1132	chr14	71715862	71715863	rs1987778	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q24.2	NR	rs1987778-T	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1132	chr14	71764776	71764777	rs17767392	26301497	Dina C	2015-08-24	Nat Genet	Genetic association analyses highlight biological pathways underlying mitral valve prolapse.	Mitral valve prolapse	1,442 European ancestry cases, 2,439 European ancestry controls	1,422 European ancestry cases, 6,779 European ancestry controls	14q24.2	PCNX, SIPA1L1	rs17767392-T	0.25	2E-8		1.23	[1.15-1.32]	Affymetrix, Illumina [~ 4800000] (imputed)	N
1134	chr14	71987064	71987065	rs11158907	24277619	Quillen EE	2013-11-26	Am J Med Genet B Neuropsychiatr Genet	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Response to alcohol consumption (flushing response)	108 Han Chinese ancestry cases, 190 Han Chinese ancestry controls	NA	14q24.2	intergenic	rs11158907-?		2E-6		0.556	unit increase	Illumina [247725]	N
1135	chr14	72194400	72194401	rs17100926	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q24.2	SIPA1L1	rs17100926-A	0.049	1E-6	(TG/HDLC )	0.03	[NR] mmol/L increase	Illumina [899892]	N
1137	chr14	72357936	72357937	rs36405	25533513	Yao SL	2014-12-22	Chin J Integr Med	Genome-wide association study on susceptibility genes associated with yang-deficiency constitution: A small sample case-control study.	Yang-deficiency constitution	30 cases, 30 balanced constitution controls	NA	14q24.2	RGS6	rs36405-?	NR	4E-7				Affymetrix [668548]	N
1137	chr14	72417325	72417326	rs2332700	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q24.2	NR	rs2332700-C	NR	1E-9		1.08	[NR]	Illumina [7158791] (imputed)	N
1137	chr14	72417325	72417326	rs2332700	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	14q24.2	AC005477.1, RGS6	rs2332700-C	0.249	5E-9		1.073	[1.048-1.098]	Affymetrix, Illumina [9005918] (imputed)	N
1137	chr14	72432148	72432149	rs4902960	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	14q24.2	RGS6	rs4902960-G	NR	1E-6		0.193	[0.11-0.27] unit increase	Illumina [628922]	N
1139	chr14	72692492	72692493	rs699363	21935397	Paternoster L	2011-09-15	PLoS One	Genome-wide population-based association study of extremely overweight young adults--the GOYA study.	Obesity (extreme)	2,633 European ancestry extremely obese adult cases, 2,740 European ancestry controls	29,181 European ancestry individuals	14q24.2	RGS6	rs699363-G	NR	5E-6				Illumina [545349]	N
1140	chr14	72812524	72812525	rs2681735	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	14q24.2	NR	rs2681735-?	NR	1E-6				Affymetrix [5486770] (imputed)	N
1141	chr14	72883873	72883874	rs7159300	20811658	Uhl GR	2010-08-24	Mol Med	Genome-wide association for smoking cessation success in a trial of precessation nicotine replacement.	Smoking cessation	369 European ancestry individuals	NA	14q24.2	RGS6	rs7159300-?	NR	4E-6				Affymetrix [905273]	N
1141	chr14	72939494	72939495	rs10131300	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	14q24.2	RGS6	rs10131300-?		5E-6				Illumina [859311]	N
1142	chr14	73019235	73019236	rs4903031	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	14q24.2	RGS6	rs4903031-G	NR	5E-6		0.032	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1142	chr14	73081067	73081068	rs2526932	22788528	Kong M	2012-07-13	Int J Immunogenet	Genetic associations with C-reactive protein level and white blood cell count in the KARE study.	C-reactive protein and white blood cell count	8,722 individuals	NA	14q24.2	intergenic	rs2526932-G	0.012	6E-13	(CRP)	0.275	[NR] mg/dl increase	Affymetrix [1701735] (imputed)	N
1143	chr14	73222828	73222829	rs75575287	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	14q24.2	NR	rs75575287-?	NR	3E-6	(Latino)	1.0865	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1147	chr14	73756298	73756299	rs10483853	17903303	O'Donnell CJ	2007-09-19	BMC Med Genet	Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.	Coronary artery calcification	Up to 678 individuals	NA	14q24.2	NUMB	rs10483853-?	NR	6E-6				Affymetrix [70897]	N
1147	chr14	73767213	73767214	rs2333194	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	14q24.3	NUMB	rs2333194-?	NR	7E-7		1.2	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1149	chr14	73972534	73972535	rs2041073	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	14q24.3	HEATR4	rs2041073-T	0.54	3E-13	(X-13671)	0.018	[0.012-0.024] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1149	chr14	73976933	73976934	rs8018967	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	14q24.3	HEATR4	rs8018967-T	0.66	6E-19	(X-13215/X-13671)	0.033	[0.025-0.041] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1150	chr14	74074731	74074732	rs55951657	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	14q24.3	ACOT4	rs55951657-A		4E-6		158.61	[91.56-225.66] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
1153	chr14	74551969	74551970	rs2239557	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	14q24.3	NR	rs2239557-?	NR	3E-7	(morningness)			Illumina [535076]	N
1157	chr14	74989432	74989433	rs699371	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	14q24.3	LTBP2	rs699371-T	0.2	2E-12		0.043	[0.027-0.059] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1157	chr14	74990745	74990746	rs862034	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	14q24.3	LTBP2	rs862034-A	0.361	6E-20		0.028	[0.022-0.034] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1157	chr14	74990745	74990746	rs862034	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	14q24.3	LTBP2	rs862034-A	0.36	7E-14		0.028	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1159	chr14	75322793	75322794	rs8014204	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	14q24.3	NR	rs8014204-A	0.53	5E-6		0.065	[0.04-0.10] mg/day increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1159	chr14	75327442	75327443	rs722599	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q24.3	NR	rs722599-C	0.4301501460374	8E-6	(IGP22)	0.1395	[0.078-0.201] unit increase	Illumina [~ 2500000] (imputed)	N
1159	chr14	75365728	75365729	rs732765	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	14q24.3	DLST	rs732765-G	0.257	7E-6	(Additive model)			Affymetrix [271817]	N
1161	chr14	75626041	75626042	rs910316	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	14q24.3	TMED10	rs910316-?	0.15	1E-7		0.05	[0.03-0.07] s.d. increase	Illumina [229216]	N
1162	chr14	75701220	75701221	rs4899554	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	14q24.3	FOS, MLH3	rs4899554-C	0.819	3E-8		1.083	[1.042-1.125]	Affymetrix, Illumina [1230000] (imputed)	N
1162	chr14	75741750	75741751	rs1569328	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	14q24.3	NR	rs1569328-G	0.83	3E-9	(EA)	1.0843407		Affymetrix, Illumina [~ 9000000] (imputed)	N
1162	chr14	75741750	75741751	rs1569328	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	14q24.3	NR	rs1569328-A	0.83	6E-11	(EA)	1.1154022		Affymetrix, Illumina [~ 9000000] (imputed)	N
1163	chr14	75814027	75814028	rs11621969	22699663	Divaris K	2012-07-01	J Dent Res	Genome-wide association study of periodontal pathogen colonization.	Periodontal microbiota	1,020 European ancestry individuals	NA	14q24.3	FOS, JDP2	rs11621969-T	0.789	9E-7	(A. actino)	2.46	[1.68-3.62]	Affymetrix [~ 2500000] (imputed)	N
1164	chr14	75916463	75916464	rs84044	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q24.3	JDP2	rs84044-A	0.175	7E-6	(GLU )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1164	chr14	75960535	75960536	rs7155603	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	14q24.3	BATF	rs7155603-G	0.19	1E-7		1.16	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1164	chr14	76005556	76005557	rs2300603	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	14q24.3	BATF	rs2300603-A	NR	2E-8		1.11	[1.09-1.12]	Illumina [465434]	N
1165	chr14	76129590	76129591	rs724743	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	14q24.3	TTLL5	rs724743-A	0.94	1E-7		0.101	[0.064-0.138] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
1166	chr14	76173859	76173860	rs1005224	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Large artery stroke	2,167 cases, 49,159 controls	NA	14q24.3	TTLL5	rs1005224-T		1E-7		1.2048	[1.11-1.3]	Affymetrix, Illumina [~ 2400000] (imputed)	N
1168	chr14	76500302	76500303	rs9323624	24236485	Cornejo-Garcia JA	2013-11-01	Pharmacogenomics	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	112 European ancestry cases, 124 European ancestry controls, 120 Han Chinese ancestry cases, 101 Han Chinese ancestry controls	NA	14q24.3	IFT43	rs9323624-A	0.6436	1E-6	(East Asian)	2.88	[1.84-4.51]	Affymetrix [up to 644046]	N
1168	chr14	76500302	76500303	rs9323624	24236485	Cornejo-Garcia JA	2013-11-01	Pharmacogenomics	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	112 European ancestry cases, 124 European ancestry controls, 120 Han Chinese ancestry cases, 101 Han Chinese ancestry controls	NA	14q24.3	IFT43	rs9323624-?		1E-6				Affymetrix [up to 644046]	N
1169	chr14	76613677	76613678	rs935334	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Blood pressure	Up to 1,327 individuals	NA	14q24.3	intergenic	rs935334-?	NR	3E-6	(DBP)			Affymetrix [70897]	N
1169	chr14	76650763	76650764	rs2121070	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Blood pressure	Up to 1,327 individuals	NA	14q24.3	C14orf118	rs2121070-?	NR	5E-6	(DBP)			Affymetrix [70897]	N
1170	chr14	76703350	76703351	rs7156960	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	14q24.3	C14orf118	rs7156960-G	0.48	4E-6	(ETV6-RUNX1 positive, Northern European)			Affymetrix [355750]	N
1170	chr14	76703350	76703351	rs7156960	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	14q24.3	C14orf118	rs7156960-C	0.53	3E-6		1.2195122	[1.12-1.33]	Affymetrix [355750]	N
1170	chr14	76703350	76703351	rs7156960	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	14q24.3	C14orf118	rs7156960-C	0.52	1E-6	(ETV6-RUNX1 positive)	1.2048193	[1.09-1.33]	Affymetrix [355750]	N
1171	chr14	76812490	76812491	rs2360997	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Attention deficit hyperactivity disorder symptoms (interaction)	909 European ancestry trios	NA	14q24.3	intergenic	rs2360997-C	0.86	8E-6	(int, MW)	1.3	[NR] unit decrease	Perlegen [429981]	N
1171	chr14	76812694	76812695	rs12893597	25729143	Ahmetov I	2014-10-21	Biol Sport	Genome-wide association study identifies three novel genetic markers associated with elite endurance performance.	Maximal oxygen uptake response	15 Russian ancestry male long endurance athletes, 17 Russian ancestry female long endurance athletes, 31 Russian ancestry middle and short endurance athletes, 17 Russian ancestry middle and short endurance athletes	NA	14q24.3	ESRRB	rs12893597-T	NR	7E-6	(MLE, MMSE, FMSE)			Illumina [1140419]	N
1176	chr14	77497974	77497975	rs183266	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	14q24.3	IRF2BPL	rs183266-?	NR	5E-6	(LTG)			Illumina [NR]	N
1176	chr14	77513843	77513844	rs1986116	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep quality	2,315 European ancestry individuals	NA	14q24.3	AC007686.1	rs1986116-T	0.24	1E-6		0.16	[0.10-0.22] unit increase	Illumina [2380486] (imputed)	N
1177	chr14	77601818	77601819	rs1465330	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Large artery stroke	2,167 cases, 49,159 controls	NA	14q24.3	ZDHHC22	rs1465330-A		4E-7		1.1905	[1.1-1.28]	Affymetrix, Illumina [~ 2400000] (imputed)	N
1177	chr14	77684669	77684670	rs4467006	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	14q24.3	intergenic	rs4467006-?	NR	7E-6	(NSM vs. Control)	1.593	[NR]	Affymetrix [703012]	N
1177	chr14	77684841	77684842	rs2287375	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	14q24.3	intergenic	rs2287375-?	NR	5E-6	(NSM vs. Control)	1.606	[NR]	Affymetrix [703012]	N
1183	chr14	78421057	78421058	rs4899685	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	14q24.3	ADCK1	rs4899685-?		4E-6	(Hispanic)	14.0	[NR]	Illumina [936149]	N
1184	chr14	78534905	78534906	rs3850370	22872573	Hu L	2012-08-07	Clin Cancer Res	Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.	Response to platinum-based chemotherapy in non-small-cell lung cancer	528 Han Chinese ancestry cases	340 Han Chinese ancestry cases, 409 European ancestry cases	14q24.3	NRXN3, SKIIP, SNW1, ALKBH1	rs3850370-C	NR	4E-6	(Han Chinese + EA)	1.31	[1.17-1.47]	NR [576351]	N
1185	chr14	78695067	78695068	rs10129666	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	14q24.3	NRXN3	rs10129666-?	NR	8E-6	(SCR Amplitude)	0.021	[0.011-0.031] unit increase	Illumina [527829]	N
1185	chr14	78750986	78750987	rs11159346	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	14q24.3	NRXN3	rs11159346-?	NR	5E-6	(EDA Factor scores)	0.108	[0.061-0.155] unit increase	Illumina [527829]	N
1186	chr14	78775305	78775306	rs7155434	20197096	Stein JL	2010-03-01	Neuroimage	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.	Brain structure (temporal lobe volume)	173 European ancestry Alzheimer's disease cases, 361 European ancestry Mild Cognitive Impairment cases, 208 European ancestry controls	NA	14q24.3	KIAA0743	rs7155434-A	0.27	8E-6		3643.0	[NR] unit increase	Illumina [546314]	N
1186	chr14	78786076	78786077	rs11624704	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	14q24.3	NRXN3	rs11624704-?	NR	3E-9	(WHR)			Illumina [~ 550000]	N
1186	chr14	78786158	78786159	rs6574433	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	14q24.3	AC007056.4-3	rs6574433-?	NR	6E-6	(Animals)			Illumina [up to 563855]	N
1194	chr14	79847237	79847238	rs12882679	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Underweight status	953 Bangladeshi ancestry underweight females, 1,269 Bangladeshi ancestry normal weight females, 1,146 Bangladeshi ancestry underweight males, 1,106 normal weight males	NA	14q31.1	NRXN3	rs12882679-G	0.687	1E-6		0.057	[0.033-0.081] unit increase	Illumina [1208102] (imputed)	N
1194	chr14	79899453	79899454	rs7141420	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q31.1	NRXN3	rs7141420-T	0.529	9E-15		0.023	[0.017-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1194	chr14	79899453	79899454	rs7141420	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q31.1	NRXN3	rs7141420-T	0.528	6E-8	(EA, men)	0.022	[0.014-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1194	chr14	79899453	79899454	rs7141420	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q31.1	NRXN3	rs7141420-T	0.527	1E-14	(EA)	0.024	[0.017-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1194	chr14	79899453	79899454	rs7141420	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q31.1	NRXN3	rs7141420-T	0.526	1E-11	(EA, women)	0.026	[0.019-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1194	chr14	79899453	79899454	rs7141420	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	14q31.1	NRXN3	rs7141420-T	0.52	1E-17	(Obesity class I)	1.08	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1194	chr14	79903375	79903376	rs2370983	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	14q31.1	NRXN3	rs2370983-A	0.62	3E-9	(Overweight)	1.04	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1194	chr14	79936963	79936964	rs10150332	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	14q31.1	NRXN3	rs10150332-C	0.21	3E-11		0.13	[0.07-0.19] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1194	chr14	79945161	79945162	rs10146997	19557197	Heard-Costa NL	2009-06-26	PLoS Genet	NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.	Waist circumference	31,373 European ancestry individuals	38,641 individuals	14q31.1	NRXN3	rs10146997-G	NR	5E-8		0.65	[NR] cm increase	Affymetrix, Illumina [up to 512349]	N
1195	chr14	80002095	80002096	rs7147705	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis (age of onset)	4,243 European ancestry cases	NA	14q31.1	NRXN3	rs7147705-T	0.29	6E-6	(Meta)			Illumina [254145]	N
1198	chr14	80410440	80410441	rs8010717	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	14q31.1	NRXN3, LOC730007	rs8010717-?	NR	3E-7	(SBP,CPD)			Affymetrix [2485435] (imputed)	N
1198	chr14	80410440	80410441	rs8010717	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	14q31.1	NRXN3, LOC730007	rs8010717-?	NR	1E-7	(SBP,Smoking)			Affymetrix [2485435] (imputed)	N
1198	chr14	80410440	80410441	rs8010717	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	14q31.1	NRXN3, LOC730007	rs8010717-?	NR	1E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1199	chr14	80587140	80587141	rs10220309	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second)	1,015 European ancestry individuals, 541 African American individuals	NA	14q31.1	NR	rs10220309-?		6E-6	(AA)			Illumina [up to 524000]	N
1206	chr14	81405921	81405922	rs12587252	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		14q31.1	C14orf45	rs12587252-T	NR	2E-6		0.0785	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1206	chr14	81451228	81451229	rs12101261	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	14q31.1	TSHR	rs12101261-T	0.64	7E-24		1.35	[1.28-1.43]	Illumina [486049]	N
1206	chr14	81523127	81523128	rs17111394	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (rim area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	14q31.1	TSHR	rs17111394-T	NR	4E-6		0.216	[0.11-0.32] unit increase	Illumina [~ 2740000] (imputed)	N
1206	chr14	81524053	81524054	rs17111396	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	14q31.1	TSHR	rs17111396-A	0.27	1E-6		0.192	[0.11-0.27] unit decrease	Affymetrix [2366856] (imputed)	N
1207	chr14	81575453	81575454	rs8017455	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	14q31.1	TSHR	rs8017455-T	NR	6E-6				Illumina [~ 1000000] (imputed)	N
1207	chr14	81594379	81594380	rs3783938	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	14q31.1	TSHR	rs3783938-T	0.07	8E-7	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1207	chr14	81598911	81598912	rs17111530	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	14q31.1	TSHR	rs17111530-T	0.0667	1E-6		2.529	[NR] unit decrease	Illumina [1216189] (imputed)	N
1207	chr14	81610941	81610942	rs7144481	25729143	Ahmetov I	2014-10-21	Biol Sport	Genome-wide association study identifies three novel genetic markers associated with elite endurance performance.	Maximal oxygen uptake response	15 Russian ancestry male long endurance athletes, 17 Russian ancestry female long endurance athletes, 31 Russian ancestry middle and short endurance athletes, 17 Russian ancestry middle and short endurance athletes	NA	14q31.1	TSHR	rs7144481-C	NR	9E-8	(MLE, MA, FA)			Illumina [1140419]	N
1207	chr14	81635322	81635323	rs10131728	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q31.1	NR	rs10131728-C	0.872444873552983	2E-7	(IGP31)	0.2398	[0.15-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
1208	chr14	81707056	81707057	rs8016982	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q31.1	NR	rs8016982-C	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1208	chr14	81778643	81778644	rs6574644	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q31.1	STON2	rs6574644-G	0.154	5E-6	(Urinary free norepinephrine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
1210	chr14	82031120	82031121	rs190480000	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	14q31.1	NR	rs190480000-?	NR	1E-6	(Latino)	0.9245	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1212	chr14	82299172	82299173	rs12589327	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	14q31.1	SEL1L	rs12589327-?	0.39	7E-6	(PD2)	2.13	[NR]	Illumina [~ 1400000] (imputed)	N
1213	chr14	82337664	82337665	rs1959122	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	14q31.1	AL160192.2	rs1959122-?		9E-7	(EA, Inherited)	7.63	[2.92-19.95]	Illumina [2421290] (imputed)	N
1220	chr14	83255204	83255205	rs746630	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q31.1	intergenic	rs746630-G	0.26	4E-6	(Urinary free epinephrine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
1220	chr14	83272652	83272653	rs148071215	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	14q31.1	intergenic	rs148071215-A	0.0217	4E-7		4.3652	[3.80-4.93]	Illumina [8809853] (imputed)	N
1220	chr14	83342321	83342322	rs10130259	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q31.1	intergenic	rs10130259-G	0.066	4E-6	(Diet protein )	0.03	[NR] %energy increase	Illumina [899892]	N
1220	chr14	83347927	83347928	rs79110742	26268530	Ramanan VK	2015-08-11	Brain	GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.	Longitudinal change in brain amyloid plaque burden	41 European ancestry Alzheimer's disease cases, 294 European ancestry Mild Cognitive Impairment cases, 160 European ancestry cognitively normal individuals	NA	14q31.1	intergenic	rs79110742-?	0.06	8E-7		0.94	[0.57-1.31] unit increase	Illumina [6112217] (imputed)	N
1220	chr14	83354937	83354938	rs8023225	26268530	Ramanan VK	2015-08-11	Brain	GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.	Longitudinal change in brain amyloid plaque burden	41 European ancestry Alzheimer's disease cases, 294 European ancestry Mild Cognitive Impairment cases, 160 European ancestry cognitively normal individuals	NA	14q31.1	intergenic	rs8023225-?	0.08	4E-6		0.77	[0.44-1.10] unit increase	Illumina [6112217] (imputed)	N
1221	chr14	83378002	83378003	rs12050412	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		14q31.1	intergenic	rs12050412-T	0.80	5E-6		0.077	[0.044-0.11] unit increase	Illumina [~ 2400000] (imputed)	N
1224	chr14	83789344	83789345	rs10484157	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	14q31.2	LOC101928599	rs10484157-T	0.11	5E-6	(Right HG area)	10.01	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
1230	chr14	84597384	84597385	rs7152554	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q31.2	intergenic	rs7152554-G	0.201	6E-6	(Diet carbohydrate )	0.02	[NR] g/d increase	Illumina [899892]	N
1230	chr14	84603162	84603163	rs7156510	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	14q31.2	intergenic	rs7156510-T	0.47	1E-6		0.21	[0.13-0.29] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
1230	chr14	84613893	84613894	rs10400694	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Ischemic stroke	up to 1,365 African American cases, up to 13,154 African American controls	European ancestry individuals (see Traylor, 2012)	14q31.2	FLRT2	rs10400694-C	0.52	9E-7	(AA)	0.24	[0.14-0.34] unit increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1230	chr14	84625792	84625793	rs1564060	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	14q31.2	intergenic	rs1564060-A	0.43	3E-7		0.24	[0.14-0.34] unit decrease	Affymetrix, Illumina [up to 2600000] (imputed)	N
1230	chr14	84669480	84669481	rs8012642	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q31.2	NR	rs8012642-C	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1231	chr14	84775208	84775209	rs11159647	18976728	Bertram L	2008-10-29	Am J Hum Genet	Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.	Alzheimer's disease	941 European ancestry cases and 404 European ancestry controls from 410 families	1,767 European ancestry cases and 838 European ancestry controls from 875 families	14q31.2	intergenic	rs11159647-?	NR	2E-6				Affymetrix [484522]	N
1233	chr14	84980035	84980036	rs2053831	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	14q31.3	intergenic	rs2053831-A	0.776	8E-6		0.023	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1237	chr14	85565926	85565927	rs12887386	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q31.3	NR	rs12887386-A	NR	7E-6		1.1	[NR]	Illumina [7158791] (imputed)	N
1238	chr14	85654018	85654019	rs12436689	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	14q31.3	FLRT2	rs12436689-?	NR	7E-6	(FEV1 decline in asthmatics)	0.2117	[0.12-0.30] unit decrease	Illumina [~ 2500000] (imputed)	N
1238	chr14	85683052	85683053	rs1550584	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q31.3	NR	rs1550584-C	0.469772138901295	7E-6	(IGP18)	0.1382	[0.078-0.198] unit decrease	Illumina [~ 2500000] (imputed)	N
1239	chr14	85737168	85737169	rs1867082	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QRS duration	455 African American individuals	NA	14q31.3	intergenic	rs1867082-A		1E-6		2.82	[NR] ms increase	Illumina [> 930000]	N
1239	chr14	85809910	85809911	rs17796783	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	14q31.3	FLRT2	rs17796783-T	0.716	3E-13		0.334	[0.24-0.43] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1240	chr14	85963855	85963856	rs8014131	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	14q31.3	FLRT2	rs8014131-A	0.42	3E-7	(AA)	4.61	[2.85-6.37] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1247	chr14	86817095	86817096	rs10484100	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	14q31.3	FLRT2	rs10484100-?	NR	3E-6		0.209	[0.12-0.30] unit increase	Illumina [> 2500000] (imputed)	N
1248	chr14	86902053	86902054	rs12882718	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	14q31.3	LOC100421119	rs12882718-T	0.643	6E-6	(Dominant model)	1.555	[1.283-1.884]	Illumina [733202]	N
1252	chr14	87506247	87506248	rs11624056	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	14q31.3	intergenic	rs11624056-?	0.11	3E-8	(Recessive)	1.43	[1.26-1.62]	Affymetrix [319222]	N
1254	chr14	87741024	87741025	rs1756650	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)	147 Japanese ancestry cases, 233 Japanese ancestry controls	NA	14q31.3	GALC	rs1756650-G	0.162	2E-6	(Recessive model)	1.386	[0.954-2.014]	Illumina [733202]	N
1258	chr14	88295599	88295600	rs4322600	22923054	Chen F	2012-08-25	Hum Genet	A genome-wide association study of breast cancer in women of African ancestry.	Breast cancer	3,016 African American cases, 2,745 African American controls	3,533 African ancestry cases, 11,046 African ancestry controls	14q31.3	GALC	rs4322600-G	0.78	4E-6		1.18	[1.10-1.27]	Illumina [2067098] (imputed)	N
1259	chr14	88444751	88444752	rs55808324	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	14q31.3	NR	rs55808324-?	NR	5E-17	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1259	chr14	88462987	88462988	rs7140285	25101718	Lee JH	2015-03-01	Am J Respir Cell Mol Biol	IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.	Pulmonary artery enlargement in chronic obstructive pulmonary disease	1,006 European ancestry cases, 260 African American cases, 3,281 European ancestry controls, 494 African American controls	NA	14q31.3	GALC	rs7140285-T	0.08	4E-8		1.55	[1.33-1.81]	Illumina [NR] (imputed)	N
1259	chr14	88472594	88472595	rs8005161	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	14q31.3	NR	rs8005161-A	0.08653	3E-9	(EA)	1.1371082	[1.09-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1259	chr14	88472594	88472595	rs8005161	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	14q31.3	NR	rs8005161-A	0.08653	9E-14	(EA)	1.1677363	[1.13-1.21]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1259	chr14	88472594	88472595	rs8005161	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	14q31.3	GALC, GPR65	rs8005161-T	0.089	2E-14		1.153	[1.097-1.211]	Affymetrix, Illumina [1230000] (imputed)	N
1259	chr14	88472594	88472595	rs8005161	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	14q31.3	GALC, GPR65	rs8005161-T	0.119	4E-18		1.23	[1.16-1.31]	Affymetrix, Illumina [953241] (imputed)	N
1260	chr14	88487688	88487689	rs2119704	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	14q31.3	GPR65	rs2119704-C	NR	2E-10		1.22	[1.19-1.25]	Illumina [465434]	N
1260	chr14	88515948	88515949	rs1372356	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	14q31.3	GPR65	rs1372356-C	0.489	6E-7	(BSA-b)	0.2	[NR] unit decrease	Illumina [944565] (imputed)	N
1260	chr14	88559991	88559992	rs6574988	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	14q31.3	NR	rs6574988-?	NR	4E-6	(dominant)			Affymetrix [NR]	N
1261	chr14	88632320	88632321	rs2236267	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	14q31.3	KCNK10	rs2236267-C	0.462	4E-7	(BSA-b)	0.2	[NR] unit increase	Illumina [944565] (imputed)	N
1262	chr14	88826481	88826482	rs17772222	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	14q31.3	SPATA7	rs17772222-A	0.81	3E-6	(AA)	0.21	[0.13-0.29] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1262	chr14	88826681	88826682	rs17124581	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	14q31.3	SPATA7	rs17124581-T	0.06	3E-6	(2-choice RT)	0.27	[0.15-0.39] unit decrease	Illumina [~ 610000]	N
1266	chr14	89372750	89372751	rs17124955	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q31.3	TTC8	rs17124955-G	0.086	9E-6	(HRmax )	0.05	[NR] bpm increase	Illumina [899892]	N
1267	chr14	89437415	89437416	rs12589060	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Hormone measurements	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	14q31.3	NR	rs12589060-G	0.48	9E-6	(Oestradiol)			Illumina [709211]	N
1268	chr14	89594294	89594295	rs7158359	23643386	Hatoum IJ	2013-05-02	Am J Hum Genet	Weight loss after gastric bypass is associated with a variant at 15q26.1.	Weight loss (gastric bypass surgery)	693 European ancestry individuals	327 European ancestry individuals	14q31.3	FOXN3	rs7158359-G	NR	5E-6		2.27	[1.29-3.25] unit decrease	Illumina [1943170] (imputed)	N
1269	chr14	89776744	89776745	rs3783863	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	14q32.11	FOXN3	rs3783863-?		5E-6		0.575	[NR] unit decrease	Illumina [5970354] (imputed)	N
1271	chr14	90034971	90034972	rs8004664	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	14q32.11	FOXN3	rs8004664-?		3E-6				Affymetrix, Illumina [~ 2400000] (imputed)	N
1273	chr14	90227250	90227251	rs2093746	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q32.11	NR	rs2093746-C	0.265059655250113	3E-7	(IGP4)	0.2878	[0.18-0.4] unit decrease	Illumina [~ 2500000] (imputed)	N
1273	chr14	90227250	90227251	rs2093746	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q32.11	NR	rs2093746-C	0.265047574785359	2E-7	(IGP44)	0.2917	[0.18-0.4] unit decrease	Illumina [~ 2500000] (imputed)	N
1273	chr14	90298274	90298275	rs8021963	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	14q32.11	BX247991, EFCAB11	rs8021963-C		2E-6		0.3002	unit increase	Illumina [5767231] (imputed)	N
1273	chr14	90301034	90301035	rs12100561	21105107	Clifford RJ	2010-12-01	Hepatology	Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.	Hepatocellular carcinoma	180 Korean ancestry cases, 271 Korean ancestry controls	206 Korean ancestry cases, 416 East Asian ancestry controls,	14q32.11	C14orf143	rs12100561-?	0.39	4E-6		1.52	[1.26-1.83]	Affymetrix [658897]	N
1274	chr14	90396573	90396574	rs7147996	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	14q32.11	c14ORF143	rs7147996-A	0.12	6E-6	(AA-triglyceride response)	28.09	[15.96-40.22] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1276	chr14	90615512	90615513	rs4900022	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	14q32.11	KCNK13	rs4900022-A	0.93	4E-6	(AA)	0.45	[0.25-0.65] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1276	chr14	90679909	90679910	rs8017423	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	14q32.11	KCNK13	rs8017423-T	0.62	7E-6	(AA)	1.64	[0.94-2.78]	Affymetrix [up to 2366858] (imputed)	N
1277	chr14	90758890	90758891	rs2282032	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	14q32.11	C14orf102	rs2282032-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1277	chr14	90770209	90770210	rs4904670	25918517	Yashin AI	2015-04-13	Front Genet	Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.	Lifespan	679 female individuals	432 male individuals	14q32.11	NRDE2, C14orf102	rs4904670-?	0.13	2E-9	(females)	5.026	unit decrease	Affymetrix [429783]	N
1279	chr14	91022184	91022185	rs17793829	21993531	Kuparinen T	2011-10-13	Genes Immun	Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.	Cytomegalovirus antibody response	1,485 European ancestry sero-postitive individuals, 648 European ancestry sero-negative individuals	NA	14q32.11	TTC7B	rs17793829-A	0.26	9E-6		0.201	[0.11-0.29] unit increase	Illumina [546677]	N
1281	chr14	91286227	91286228	rs7141336	25390645	Otowa T	2014-11-12	PLoS One	Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.	Anxiety disorder	324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls	NA	14q32.11	TTC7B	rs7141336-C		6E-6	(AA, factor score analysis)	0.19	[NR] unit increase	Affymetrix [up to 730090]	N
1282	chr14	91442778	91442779	rs1286083	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	14q32.11	RPS6KA5	rs1286083-T	0.81	2E-15	(FNBMD)	0.05	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1285	chr14	91841068	91841069	rs941764	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	14q32.11	CCDC88C	rs941764-G	0.34	4E-10		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1290	chr14	92427221	92427222	rs7153027	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	14q32.12	FBLN5	rs7153027-A	0.74	2E-17		0.049	[0.037-0.061] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1290	chr14	92427221	92427222	rs7153027	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	14q32.12	TRIP11, ATXN3, FBLN5, CPSF2	rs7153027-A	0.52	1E-10		5.7	[3.94-7.46] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1290	chr14	92427347	92427348	rs7154721	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	14q32.12	TRIP11	rs7154721-T	0.573	5E-20		0.027	[0.021-0.033] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1290	chr14	92459957	92459958	rs8007661	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	14q32.12	TRIP11, ATXN3	rs8007661-T	0.3	6E-10		0.42	[0.30-0.54] cm decrease	Affymetrix, Illumina [2260683] (imputed)	N
1290	chr14	92482947	92482948	rs7158300	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	14q32.12	TRIP11	rs7158300-T	0.31	4E-27		0.056	[0.044-0.068] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1290	chr14	92485880	92485881	rs7155279	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	14q32.12	TRIP11	rs7155279-T	0.36	1E-10		0.024	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1291	chr14	92536958	92536959	rs12588287	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	14q32.12	ATXN3	rs12588287-T	0.83	9E-6	(AA)	0.19	[0.11-0.27] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1291	chr14	92556054	92556055	rs17807815	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	14q32.12	ATXN3	rs17807815-?	0.07	6E-6	(CP)	2.38	[1.59-3.57]	Illumina [NR]	N
1291	chr14	92636712	92636713	rs1009170	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	14q32.12	SLC24A4, CPSF2	rs1009170-?	0.57	2E-6		2.0	[1.49-2.63]	Affymetrix [832357]	N
1292	chr14	92702595	92702596	rs1741439	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q32.12	CPSF2	rs1741439-A	0.0050	3E-6	(Amylin )	0.04	[NR] pM increase	Illumina [899892]	N
1292	chr14	92763390	92763391	rs4900109	21835309	Larsson M	2011-08-12	Am J Hum Genet	GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.	Iris characteristics	2,121 European ancestry individuals	499 European ancestry adolescent twins and siblings, 73 European ancestry adult individuals	14q32.12	SLC324A4	rs4900109-G		8E-21	(Pigmented Ring)	0.17	[0.13-0.21] unit increase	Illumina [274604] (imputed)	N
1292	chr14	92773662	92773663	rs12896399	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Hair color	7,070 European ancestry individuals	4,155 European ancestry individuals	14q32.12	SLC24A4	rs12896399-G	NR	2E-36		0.16	[0.14-0.18] unit decrease	Affymetrix, Illumina [7588169] (imputed)	N
1292	chr14	92773662	92773663	rs12896399	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Eye color	3871 European ancestry individuals	2,496 European ancestry individuals	14q32.12	SLC24A4	rs12896399-G	NR	4E-11	(Blue eye color)	0.33	[0.23-0.43] unit increase	Affymetrix, Illumina [2469762] (imputed)	N
1292	chr14	92773662	92773663	rs12896399	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Eye color	3871 European ancestry individuals	2,496 European ancestry individuals	14q32.12	SLC24A4	rs12896399-G	NR	3E-7	(Intermediate/Green eye color)	0.27	[0.17-0.37] unit decrease	Affymetrix, Illumina [2469762] (imputed)	N
1292	chr14	92773662	92773663	rs12896399	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	14q32.12	SLC24A4	rs12896399-T	0.44	5E-13	(hair color)	0.31	[NR] unit decrease	Illumina [535076]	N
1292	chr14	92773662	92773663	rs12896399	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eye color	9,126 European ancestry individuals	NA	14q32.12	SLC24A4	rs12896399-T	0.44	1E-16	(eye color)	0.34	[NR] unit decrease	Illumina [535076]	N
1292	chr14	92773662	92773663	rs12896399	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eye color	9,126 European ancestry individuals	NA	14q32.12	SLC24A4	rs12896399-G	0.44	2E-23	(green eyes)	1.73	[NR]	Illumina [535076]	N
1292	chr14	92773662	92773663	rs12896399	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. blond hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	14q32.12	SLC24A4	rs12896399-G	NR	8E-21		0.18	[0.14-0.22] hair color score increase	Illumina [528173]	N
1292	chr14	92773662	92773663	rs12896399	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Blue vs. green eyes	2,986 individuals	3,932 individuals	14q32.12	SLC24A4	rs12896399-T	0.40	4E-38		2.06	[1.76-2.42]	Illumina [317511]	N
1292	chr14	92773662	92773663	rs12896399	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Blond vs. brown hair color	2,986 European ancestry individuals	3,932 European ancestry individuals	14q32.12	SLC24A4	rs12896399-T	0.44	1E-48		2.56	[2.12-3.09]	Illumina [317511]	N
1293	chr14	92800003	92800004	rs8014907	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Light vs. dark hair color	3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals	NA	14q32.12	SLC24A4	rs8014907-?	0.822	3E-10		1.4228799	[1.32-1.53]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1293	chr14	92800003	92800004	rs8014907	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Brown vs. non-brown hair color	3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals	NA	14q32.12	SLC24A4	rs8014907-?	0.822	3E-9		1.3770311	[1.27-1.48]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1293	chr14	92800003	92800004	rs8014907	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Blond vs non-blond hair color	2,888 European ancestry blond hair individuals, 4,203 European ancestry non-blond hair individuals	NA	14q32.12	SLC24A4	rs8014907-?	0.178	3E-10		1.4317	[1.32-1.54]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1293	chr14	92926951	92926952	rs10498633	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	14q32.12	SLC24A4	rs10498633-G	0.78	4E-7		1.1494253	[1.09-1.22]	NR [NR]	N
1293	chr14	92926951	92926952	rs10498633	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	14q32.12	SLC24A4, RIN3	rs10498633-G	0.783	6E-9		1.0989	[1.06-1.14]	Illumina [7055881] (imputed)	N
1294	chr14	92972161	92972162	rs4904947	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	14q32.12	SLC24A4, RIN3	rs4904947-?	0.05	8E-6		1.9	[1.43-2.52]	Affymetrix [832357]	N
1295	chr14	93103308	93103309	rs10498635	21623375	Albagha OM	2011-05-29	Nat Genet	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.	Paget's disease	741 European ancestry cases, 2,699 European ancestry controls	1,474 European ancestry cases, 1,671 European ancestry controls	14q32.12	RIN3	rs10498635-C	0.82	3E-11		1.44	[1.29-1.60]	Illumina [2487078] (imputed)	N
1295	chr14	93115409	93115410	rs754388	25101718	Lee JH	2015-03-01	Am J Respir Cell Mol Biol	IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.	Chronic obstructive pulmonary disease	3,281 European ancestry cases, 494 African American cases, 2,712 European ancestry smoker controls, 1,749 African American smoker controls	NA	14q32.12	RIN3	rs754388-C	NR	1E-6		1.29	[NR]	Illumina [NR] (imputed)	N
1295	chr14	93115409	93115410	rs754388	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	14q32.12	RIN3	rs754388-C		3E-7	(Severe Centrilobular)			Illumina [6942916] (imputed)	N
1295	chr14	93115409	93115410	rs754388	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	14q32.12	RIN3	rs754388-C		2E-7	(Moderate Centrilobular)			Illumina [6942916] (imputed)	N
1295	chr14	93115409	93115410	rs754388	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	14q32.12	RIN3	rs754388-C	NR	5E-8	(EA)	0.1219	[0.078-0.166] unit increase	Illumina [~ 2500000] (imputed)	N
1295	chr14	93115409	93115410	rs754388	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, total body less head)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	14q32.12	RIN3	rs754388-C	0.82	3E-9		0.12	[0.081-0.159] unit increase	Illumina [~ 2500000] (imputed)	N
1295	chr14	93115409	93115410	rs754388	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	14q32.12	RIN3	rs754388-C	NR	2E-9	(EA)	0.1351	[0.091-0.179] unit increase	Illumina [~ 2500000] (imputed)	N
1295	chr14	93115409	93115410	rs754388	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, lower limb)	8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	14q32.12	RIN3	rs754388-C	0.82	1E-10		0.13	[0.091-0.169] unit increase	Illumina [~ 2500000] (imputed)	N
1295	chr14	93115409	93115410	rs754388	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (severe)	3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls	2,651 cases and their relatives	14q32.12	RIN3	rs754388-C	0.83	7E-8				Illumina [up to 701491] (imputed)	N
1295	chr14	93115409	93115410	rs754388	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (moderate to severe)	5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls	2,651 cases and their relatives	14q32.12	RIN3	rs754388-C	0.83	5E-9				Illumina [up to 701491] (imputed)	N
1296	chr14	93223989	93223990	rs7160685	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q32.12	NR	rs7160685-C	0.700909354954955	8E-6	(IGP20)	0.1565	[0.088-0.225] unit increase	Illumina [~ 2500000] (imputed)	N
1298	chr14	93501025	93501026	rs8006385	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	14q32.12	ITPK1	rs8006385-G	NR	1E-10		3.587	[2.49-4.68] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1299	chr14	93595590	93595591	rs11624776	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	14q32.12	ITPK1	rs11624776-A	0.66	3E-6	(TSH - Males)	0.069	[0.04-0.098] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1299	chr14	93595590	93595591	rs11624776	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	14q32.12	ITPK1	rs11624776-A	0.66	2E-9	(TSH)	0.064	[0.042-0.086] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1299	chr14	93644378	93644379	rs1268843	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	14q32.12	ITPK1, MOAP1	rs1268843-A	0.263	3E-6		1.19	[NR]	Illumina [580699]	N
1300	chr14	93790275	93790276	rs3783890	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q32.12	BTBD7	rs3783890-T	0.814	8E-7	(EA)	0.019	[0.012-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1300	chr14	93790275	93790276	rs3783890	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q32.12	BTBD7	rs3783890-T	0.814	7E-6	(EA, men)	0.023	[0.013-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1300	chr14	93790275	93790276	rs3783890	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q32.12	BTBD7	rs3783890-T	0.814	1E-7		0.02	[0.012-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1303	chr14	94205344	94205345	rs6575353	22754043	Byrne EM	2012-07-01	Sleep	A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.	Insomnia (caffeine-induced)	2,402 European ancestry individuals from 1,470 families	NA	14q32.12	PRIMA1	rs6575353-?	0.90	1E-6		1.47	[1.12-1.89]	Illumina [2380486] (imputed)	N
1305	chr14	94436738	94436739	rs79797842	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	14q32.12	NR	rs79797842-?	NR	5E-9	(Japanese)	0.9475	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1305	chr14	94460528	94460529	rs11844114	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	14q32.12	DDX24, ASB2	rs11844114-?	NR	5E-6				Perlegen [1871025] (imputed)	N
1306	chr14	94563192	94563193	rs7157940	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	14q32.12	LOC122509, FAM14B	rs7157940-?	0.46	3E-6	(weight)	0.12	[0.07-0.17] kg increase	Illumina [316730]	N
1307	chr14	94756942	94756943	rs45505795	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	14q32.13	SERPINA10	rs45505795-C	NR	1E-8	(%LAA-950, All)	0.31	[0.15-0.47] unit decrease	Illumina [7600000] (imputed)	N
1307	chr14	94756942	94756943	rs45505795	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	14q32.13	SERPINA10	rs45505795-C	NR	1E-6	(Perc15, All)	6.4	[1.11-11.69] unit increase	Illumina [7600000] (imputed)	N
1308	chr14	94796183	94796184	rs61280460	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	14q32.13	SERPINA6, CLMN	rs61280460-T	0.199	8E-7		0.095	[0.058-0.132] cup size decrease	Illumina [7422970] (imputed)	N
1308	chr14	94844842	94844843	rs1303	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	14q32.13	SERPINA1	rs1303-?	0.24	5E-48				Illumina [~ 2000000] (imputed)	N
1308	chr14	94863635	94863636	rs7151526	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	14q32.13	SERPINA11, SERPINA1	rs7151526-?	NR	2E-9		1.69	[NR]	Affymetrix [NR]	N
1309	chr14	94957713	94957714	rs1998207	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q32.13	SERPINA12	rs1998207-A	0.22	7E-6	(Trunk fat mass )	0.03	[NR] kg increase	Illumina [899892]	N
1309	chr14	94957713	94957714	rs1998207	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q32.13	SERPINA12	rs1998207-A	0.22	3E-6	(Fat mass )	0.03	[NR] kg increase	Illumina [899892]	N
1309	chr14	94957713	94957714	rs1998207	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q32.13	SERPINA12	rs1998207-A	0.22	1E-6	(Fat mass )	0.04	[NR] % increase	Illumina [899892]	N
1309	chr14	94972241	94972242	rs11627075	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q32.13	SERPINA12	rs11627075-A	0.046	3E-6	(C-peptide )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1309	chr14	95012383	95012384	rs11160190	22907691	Breitfeld J	2012-08-21	Int J Obes (Lond)	Genetic variation in the vaspin gene affects circulating serum vaspin concentrations.	Vaspin levels	826 European ancestry individuals	1806 European ancestry individuals	14q32.13	vaspin, serpinA4	rs11160190-G	NR	4E-41		0.037	[NR] unit decrease	Affymetrix [390619]	N
1310	chr14	95094396	95094397	rs8005845	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	14q32.13	SERPINA3	rs8005845-T	0.73	5E-6		0.047	[0.027-0.067] unit increase	Affymetrix, Illumina [557887] (imputed)	N
1310	chr14	95107972	95107973	rs4905226	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	14q32.13	SERPINA13	rs4905226-T	0.24	4E-6	(Age 8)	0.13	[0.071-0.189] unit increase	Illumina [2293137] (imputed)	N
1312	chr14	95410528	95410529	rs10133840	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	14q32.13	RPL15P2, DICER1	rs10133840-C	NR	4E-7	(Dietary energy)	0.01	[NR] unit decrease	Affymetrix [706791]	N
1312	chr14	95410528	95410529	rs10133840	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	14q32.13	RPL15P2, DICER1	rs10133840-C	0.14	1E-6	(Hispanic, Dietary energy)	0.01	[0.005-0.01] unit decrease	Affymetrix [706791]	N
1314	chr14	95671870	95671871	rs1187614	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	14q32.13	CLMN	rs1187614-?	0.313	2E-7	(perphenazine-total cholesterol)			Affymetrix [492900]	N
1315	chr14	95720677	95720678	rs8014194	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	14q32.13	FLJ45244, DICER1, CLMN	rs8014194-A	0.24	2E-8	(chol, diff)			Illumina [~ 2500000] (imputed)	N
1315	chr14	95764563	95764564	rs115102486	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		14q32.13	CLMN	rs115102486-?	0.03	2E-8		0.31	unit decrease	Illumina [NR] (imputed)	N
1316	chr14	95838400	95838401	rs12897644	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	14q32.13	RPL15P2, CLMN, DICER1, SYNE3	rs12897644-?	NR	9E-7		1.54	[0.93-2.15] unit increase	Illumina [1075436] (imputed)	N
1316	chr14	95848293	95848294	rs12432260	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q32.13	C14orf139	rs12432260-A	0.056	8E-6	(Trunk fat mass )	0.03	[NR] kg increase	Illumina [899892]	N
1316	chr14	95892273	95892274	rs12895389	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Follicule stimulating hormone	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	14q32.13	NR		0.13	2E-7	(FSH)			Illumina [709211]	N
1316	chr14	95942446	95942447	rs11622887	23478653	Han JY	2013-03-12	Pharmacogenomics J	A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.	Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer	139 individuals	NA	14q32.13	C14orf49	rs11622887-?	NR	3E-7	(Recessive model)	3.5	[2.20-5.60]	Affymetrix [334127]	N
1317	chr14	96010588	96010589	rs7120	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q32.13	GLRX5	rs7120-A	0.277	2E-6	(BMR RQ)	0.03	[NR] unit increase	Illumina [899892]	N
1317	chr14	96027152	96027153	rs8005962	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	14q32.13	NR	rs8005962-?	0.63	8E-6		1.2	[1.11-1.25]	Affymetrix [> 333754] (imputed)	N
1318	chr14	96088259	96088260	rs7161179	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	14q32.13	GLRX5, TCL6	rs7161179-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1318	chr14	96093846	96093847	rs115169421	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	14q32.13	NR	rs115169421-?	NR	5E-6	(Native Hawaiian)	0.9626	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1318	chr14	96107954	96107955	rs7148498	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	14q32.13	GLRX5	rs7148498-?		1E-6				Illumina [859311]	N
1318	chr14	96122407	96122408	rs8015016	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	QT interval	2,325 European ancestry individuals	NA	14q32.13	TCL6	rs8015016-G	0.20	5E-7		0.18	[0.10-0.26] unit decrease	Illumina [~ 318327]	N
1318	chr14	96169130	96169131	rs7158782	20876420	Ingle JN	2010-09-27	J Clin Oncol	Genome-wide associations and functional genomic studies of musculoskeletal adverse events in women receiving aromatase inhibitors.	Adverse response to aromatase inhibitors	293 cases, 585 controls	NA	14q32.13	TCL1A	rs7158782-?	0.11	8E-7		2.13	[1.58-2.87]	Illumina [551395]	N
1318	chr14	96206069	96206070	rs2369304	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	14q32.13	AL139020.1	rs2369304-?	NR	9E-6				Illumina [874956]	N
1320	chr14	96389330	96389331	rs3811345	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	14q32.2	LINC00617	rs3811345-A	NR	4E-7	(%LAA-950, Cases)	0.16	[0.1-0.22] unit increase	Illumina [7600000] (imputed)	N
1320	chr14	96389330	96389331	rs3811345	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	14q32.2	LINC00617	rs3811345-A	NR	2E-6	(Perc15, Cases)	3.4	[2.03-4.77] unit decrease	Illumina [7600000] (imputed)	N
1325	chr14	97053923	97053924	rs17280262	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	14q32.2	intergenic	rs17280262-?		4E-6	(overall survival)	2.66	[1.75-4.04]	Illumina [729737]	N
1325	chr14	97053923	97053924	rs17280262	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	14q32.2	intergenic	rs17280262-?		1E-7	(disease-free survival)	3.02	[2.00-4.55]	Illumina [729737]	N
1325	chr14	97103806	97103807	rs17094273	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	14q32.2	intergenic	rs17094273-A	NR	9E-8		0.2	[0.12-0.28] tanning ability score increase	Illumina [528173]	N
1326	chr14	97171074	97171075	rs17244419	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	14q32.2	VRK1	rs17244419-T	0.03098	8E-6	(Phonemic Fluency)	8.6504	[4.89-12.41] unit decrease	Affymetrix [> 371951] (imputed)	N
1327	chr14	97345805	97345806	rs4905558	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	14q32.2	VRK1	rs4905558-?	NR	8E-6				Illumina [874956]	N
1328	chr14	97393684	97393685	rs8016620	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q32.2	intergenic	rs8016620-G	0.033	5E-6	(Total cysteine )	0.03	[NR] umol/L increase	Illumina [899892]	N
1329	chr14	97523744	97523745	rs724210	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	14q32.2	intergenic	rs724210-C	0.33	8E-7	(NESPAS-ICR)			Illumina [515966]	N
1329	chr14	97544572	97544573	rs2144051	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	14q32.2	intergenic	rs2144051-G	NR	4E-6		3.56	[NR]	Illumina [up to 9792010] (imputed)	N
1332	chr14	97987856	97987857	rs8022296	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	14q32.2	LOC100129345	rs8022296-G	0.608	7E-6	(Recessive model)	1.269	[1.058-1.521]	Illumina [733202]	N
1334	chr14	98303330	98303331	rs1471356	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	14q32.2	LOC100132612	rs1471356-?	0.23	9E-6				Affymetrix, Illumina [1348798]	N
1336	chr14	98463156	98463157	rs7140601	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	14q32.2	LOC100132612	rs7140601-?		7E-7	(AA)			Illumina [NR]	N
1336	chr14	98486544	98486545	rs10142119	23967269	Kim JH	2013-08-13	PLoS One	A genome-wide association study of total serum and mite-specific IgEs in asthma patients.	IgE levels in asthmatics (D.f. specific)	404 Korean ancestry D.f.-positive cases, 473 Korean ancestry D.f.-negative cases	NA	14q32.2	LOC730217	rs10142119-G	0.516	2E-7		1.96	[1.52-2.56]	Illumina [442089]	N
1336	chr14	98488006	98488007	rs1456988	23612905	Zhao SX	2013-04-29	Hum Mol Genet	Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.	Graves' disease	1,442 Han Chinese ancestry cases, 1,468 Han Chinese ancestry controls	7,891 Han Chinese ancestry cases, 8,351 Han Chinese ancestry controls	14q32.2	intergenic	rs1456988-?	0.53	5E-9		1.12	[1.09-1.18]	Illumina [8019905] (imputed)	N
1336	chr14	98498950	98498951	rs4900384	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	14q32.2	intergenic	rs4900384-G	0.29	4E-9		1.09	[1.02-1.16]	Affymetrix, Illumina [841622] (imputed)	N
1336	chr14	98499457	98499458	rs10144042	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity change in response to statin therapy	2,673 European ancestry cases, 2,656 European ancestry controls	NA	14q32.2	C14orf177	rs10144042-A	0.24	2E-6	(percent change)	1.4	[0.62-2.18] percent decrease	Illumina [796174]	N
1337	chr14	98588320	98588321	rs7152623	22068335	Mitchell GF	2011-11-08	Circ Cardiovasc Genet	Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium.	Aortic stiffness	4,216 Sardinian individuals, 20,634 European ancestry individuals	5,306 European ancestry individuals	14q32.2	BCL11B	rs7152623-?	NR	3E-15		0.076	[0.056-0.096] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1337	chr14	98641214	98641215	rs7152530	24847357	Ye Z	2014-05-09	Front Genet	Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.	Staphylococcus aureus infection	309 European ancestry cases, 2,925 European ancestry controls	NA	14q32.2	VRK1, BCL11B	rs7152530-G	0.633254	8E-7		1.61	[1.33-1.96]	Illumina [508921]	N
1337	chr14	98642571	98642572	rs10484128	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	14q32.2	intergenic	rs10484128-?	0.15	6E-6	(pltadp)			Affymetrix [70897]	N
1337	chr14	98670157	98670158	rs857228	22445761	Kurose K	2012-03-23	Psychiatry Res	Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.	Sexual dysfunction (SSRI/SNRI-related)	201 Japanese ancestry individuals	NA	14q32.2	AL163760.3	rs857228-T	0.354	3E-6		2.56	[1.60-4.08]	Affymetrix [186320]	N
1339	chr14	98840442	98840443	rs1459148	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	14q32.2	intergenic	rs1459148-?	NR	2E-6	(SAS)			Affymetrix [492000]	N
1342	chr14	99240315	99240316	rs11623713	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	14q32.2	C14orf177	rs11623713-A	0.043	8E-6	(Free T3 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1343	chr14	99457436	99457437	rs116002988	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	14q32.2	NR	rs116002988-C	NR	8E-6	(phenotype 2)	2.04	[NR]	Illumina [> 8000000] (imputed)	N
1344	chr14	99547266	99547267	rs2029614	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	14q32.2	RPL3P4, BCL11B	rs2029614-?	NR	6E-6	(FEV1/FVC < 80%)	0.055	[NR] unit increase	Illumina [522636]	N
1344	chr14	99607479	99607480	rs2693676	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	14q32.2	BCL11B	rs2693676-A	NR	7E-6		0.0435	[0.025-0.062] mm decrease	Illumina [1704858] (imputed)	N
1345	chr14	99719218	99719219	rs2693698	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q32.2	NR	rs2693698-G	NR	1E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1345	chr14	99719218	99719219	rs2693698	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	14q32.2	BCL11B	rs2693698-G	0.582	5E-9		1.0649627	[1.04-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
1345	chr14	99742186	99742187	rs2664299	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q32.2	NR	rs2664299-C	0.404780828660436	9E-6	(IGP40)	0.1673	[0.094-0.241] unit increase	Illumina [~ 2500000] (imputed)	N
1346	chr14	99746273	99746274	rs2614463	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q32.2	NR	rs2614463-T	0.396310788487282	7E-6	(IGP39)	0.1731	[0.098-0.249] unit increase	Illumina [~ 2500000] (imputed)	N
1348	chr14	100037017	100037018	rs2400749	25649651	Wang X	2015-02-03	J Alzheimers Dis	Genetic Determinants of Survival in Patients with Alzheimer's Disease.	Alzheimer's disease (survival time)	983 cases	NA	14q32.2	CCDC85C	rs2400749-?		2E-6		1.3888888	[NR]	Illumina [803323]	N
1348	chr14	100133941	100133942	rs2895811	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	14q32.2	HHIPL1	rs2895811-C	0.43	1E-10		1.07	[1.05-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1352	chr14	100599436	100599437	rs941898	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	14q32.2	EVL	rs941898-G	0.25	3E-7				Affymetrix, Illumina [14227402] (imputed)	N
1352	chr14	100599436	100599437	rs941898	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	14q32.2	EVL	rs941898-G	0.25	2E-6	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1352	chr14	100625901	100625902	rs7157599	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	14q32.2	DEGS2	rs7157599-?	0.31	1E-7	(Dominant)	1.13	[1.08-1.19]	Affymetrix [319222]	N
1353	chr14	100684191	100684192	rs2766692	22554406	Kang SJ	2012-05-03	Genes Brain Behav	Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6.	Electroencephalographic traits in alcoholism	1,560 European ancestry individuals from 117 families	NA	14q32.2	intergenic	rs2766692-G	0.691	2E-6		0.11	[NR] unit decrease	Illumina [634583]	N
1354	chr14	100882404	100882405	rs10144321	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	14q32.2	DLK1, WDR25	rs10144321-A	0.75	9E-15		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1355	chr14	101032216	101032217	rs6575793	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	14q32.2	BEGAIN	rs6575793-C	0.42	1E-8		2.3	[1.52-3.08] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1356	chr14	101142889	101142890	rs730570	21573907	Parra EJ	2011-05-15	Diabetologia	Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.	Type 2 diabetes	1,804 Hispanic cases, 780 Hispanic controls	European ancestry individuals	14q32.2	C14orf70	rs730570-G	NR	8E-6		1.14	[1.08-1.21]	Affymetrix [315658]	N
1356	chr14	101154071	101154072	rs4905994	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	14q32.2	NR	rs4905994-T	NR	7E-6	(EA)	0.02871	(-0.04119--0.01623) mg/dl decrease	Illumina [up to 509150]	N
1356	chr14	101154071	101154072	rs4905994	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	14q32.2	NR	rs4905994-T	NR	4E-6		0.0234	[NR] mg/dl decrease	Illumina [up to 509150]	N
1356	chr14	101159415	101159416	rs7149242	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	14q32.2	C14orf70, DLK1	rs7149242-G	NR	3E-8		2.142	[1.39-2.9] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1356	chr14	101182469	101182470	rs7141210	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	14q32.2	DLK1	rs7141210-T	0.34	6E-9		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1357	chr14	101251988	101251989	rs1884537	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (disc area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	14q32.2	MEG3	rs1884537-C	NR	2E-6		0.134	[0.052-0.216] unit increase	Illumina [~ 2740000] (imputed)	N
1357	chr14	101306044	101306045	rs941576	19966805	Wallace C	2009-12-06	Nat Genet	The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.	Type 1 diabetes	7,514 European ancestry cases, 9,045 European ancestry controls	4,840 European ancestry cases, 2,670 European ancestry controls, 5,766 European ancestry familial triads	14q32.2	DIO3, DLK1, MEG3, RTL1	rs941576-A	0.57	1E-10		1.11	[1.06-1.16]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1359	chr14	101474869	101474870	rs10145110	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	14q32.31	SNORD114-31	rs10145110-?		1E-7				Illumina [859311]	N
1359	chr14	101539383	101539384	rs7147503	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		14q32.31	NR	rs7147503-C		5E-6		0.051	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1360	chr14	101598941	101598942	rs915364	26058915	Tin A	2015-05-29	BMC Genet	Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study.	Magnesium levels	2,737 African American individuals	942 African American individuals	14q32.31	MIR379	rs915364-A	0.57	2E-7		0.009	[NR] mmol/L increase	Affymetrix [14825944] (imputed)	N
1360	chr14	101679254	101679255	rs6575836	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	14q32.31	SNORD114-31	rs6575836-G	0.79	8E-6		4.0	[NR]	Affymetrix [up to 4467279] (imputed)	N
1360	chr14	101690044	101690045	rs8008758	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	14q32.31	LOC100128373, DIO3OS	rs8008758-A	0.25	3E-6	(AA, Alcohol intake)	0.39	[0.23-0.55] unit increase	Affymetrix [706791]	N
1361	chr14	101727106	101727107	rs2400997	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	14q32.31	MIR656	rs2400997-?	NR	3E-6	(rs10934853)	1.25	[1.14-1.38]	Affymetrix, Illumina [1117531] (imputed)	N
1365	chr14	102360744	102360745	rs7142002	20663923	Anney R	2010-07-27	Hum Mol Genet	A genome-wide scan for common alleles affecting risk for autism.	Autism	1,385 child cases from 1,369 families	1,086 child cases from 595 families, 1,965 European, African American and other ancestry controls	14q32.31	PPP2R5C	rs7142002-?	0.94	3E-6	(Spc)	1.56	[1.28-1.89]	Illumina [842348]	N
1366	chr14	102454932	102454933	rs4906172	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	14q32.31	NR	rs4906172-?	NR	3E-6		0.36	[0.21-0.51] years decrease	Illumina [315418]	N
1367	chr14	102595624	102595625	rs1190596	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	14q32.31	NR	rs1190596-A	0.18	4E-6	(Nicotine use)			Illumina [527829]	N
1369	chr14	102845866	102845867	rs150571175	24957906	Kuiper JJ	2014-06-22	Hum Mol Genet	A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.	Birdshot chorioretinopathy	117 European ancestry cases, 693 European ancestry  controls	30 European ancestry cases, 2,793 European ancestry controls	14q32.31	TECPR2	rs150571175-A	0.017	2E-7		4.6	[2.60-8.30]	Illumina [9932851] (imputed)	N
1370	chr14	102974998	102974999	rs2273905	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	14q32.31	ANKRD9	rs2273905-T	0.355	4E-11		0.61	[0.43-0.79] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1371	chr14	103040086	103040087	rs11628318	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	14q32.31	RCOR1	rs11628318-A	NR	2E-10		2.572	[1.78-3.37] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1373	chr14	103304424	103304425	rs7143963	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q32.32	TRAF3	rs7143963-T	0.204	1E-6		0.018	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1373	chr14	103304424	103304425	rs7143963	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q32.32	TRAF3	rs7143963-T	0.181	6E-7	(EA, men)	0.026	[0.016-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1373	chr14	103304424	103304425	rs7143963	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q32.32	TRAF3	rs7143963-T	0.18	3E-7	(EA)	0.02	[0.013-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1373	chr14	103377320	103377321	rs10133111	19023125	Potkin SG	2008-11-20	Schizophr Bull	A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.	Brain imaging in schizophrenia (interaction)	46 European ancestry cases, 60 European ancestry controls, 18 cases, 14 controls	NA	14q32.32	TRAF3	rs10133111-?	0.20	5E-6				Illumina [302783]	N
1374	chr14	103484824	103484825	rs751837	21471979	Kumar V	2011-04-07	J Hum Genet	Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.	Large B-cell lymphoma	74 Japanese ancestry cases, 934 Japanese ancestry controls	325 Japanese ancestry cases, 3,309 Japanese ancestry controls	14q32.32	CDC42BPB	rs751837-?	NR	3E-7		3.51	[2.13-5.88]	Illumina [444361]	N
1375	chr14	103563194	103563195	rs8017161	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	14q32.32	TNFAIP2	rs8017161-A	0.40	3E-13		1.22	[1.16-1.27]	Illumina [507467]	N
1375	chr14	103566784	103566785	rs2297067	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	14q32.32	C14orf73	rs2297067-T	NR	2E-10		3.538	[2.45-4.62] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1375	chr14	103572814	103572815	rs944002	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	14q32.32	C14orf73	rs944002-A	NR	5E-11		0.008	[0.006-0.01] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1375	chr14	103572814	103572815	rs944002	22010049	Middelberg RP	2011-11-01	Hum Mol Genet	Loci affecting gamma-glutamyl transferase in adults and adolescents show age &#x000d7; SNP interaction and cardiometabolic disease associations.	Gamma gluatamyl transferase levels	12,526 European ancestry individuals	NA	14q32.32	C14orf73	rs944002-G	0.22	5E-13		0.129	[0.094-0.164] unit increase	Illumina [2380486] (imputed)	N
1375	chr14	103572814	103572815	rs944002	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	14q32.32	C14orf73	rs944002-G	0.21	6E-29		6.3	[4.90-7.70] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1375	chr14	103677239	103677240	rs71417845	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	14q32.32	NR	rs71417845-?	NR	1E-6		0.52	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1377	chr14	103812319	103812320	rs12432904	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q32.32	NR	rs12432904-G	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1377	chr14	103822761	103822762	rs17616316	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	14q32.32	EIF5	rs17616316-G	0.07	8E-11	(MCH)	0.014	[-0.00364-0.03164] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1377	chr14	103883632	103883633	rs11623869	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	14q32.32	MARK3	rs11623869-T	0.35	5E-16	(FNBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1378	chr14	104046833	104046834	rs12887734	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q32.33	NR	rs12887734-T	NR	2E-13		1.09	[NR]	Illumina [7158791] (imputed)	N
1378	chr14	104046833	104046834	rs12887734	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	14q32.33	AL049840.1, APOPT1, BAG5, CKB, KLC1, PPP1R13B, TRMT61A, XRCC3, ZFYVE21	rs12887734-T	0.287	1E-13		1.088	[1.064-1.113]	Affymetrix, Illumina [9005918] (imputed)	N
1379	chr14	104149474	104149475	rs709400	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q32.33	KLC1	rs709400-A	0.635	1E-7		0.016	[0.01-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1379	chr14	104149474	104149475	rs709400	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q32.33	KLC1	rs709400-A	0.63	1E-7	(EA)	0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1379	chr14	104149474	104149475	rs709400	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	14q32.33	KLC1	rs709400-A	0.629	3E-6	(EA, women)	0.019	[0.011-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1380	chr14	104290673	104290674	rs67478160	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q32.33	NR	rs67478160-C	NR	6E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1381	chr14	104357637	104357638	rs4144027	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	14q32.33	ASPG	rs4144027-T	0.6	1E-11	(asparagine)	0.012	[0.0081-0.0159] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1382	chr14	104509075	104509076	rs11622475	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	14q32.33	NR	rs11622475-?	NR	2E-6	(addtive)			Affymetrix [NR]	N
1382	chr14	104509075	104509076	rs11622475	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	14q32.33	NR	rs11622475-C	0.70	8E-6		1.13	[0.89-1.44]	Affymetrix [469557]	N
1382	chr14	104537679	104537680	rs112973353	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	14q32.33	NR	rs112973353-T	NR	1E-8		1.11	[NR]	Illumina [7158791] (imputed)	N
1388	chr14	105272677	105272678	rs45490496	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	14q32.33	ZBTB42, AKT1	rs45490496-A	0.39	8E-9		0.038	[0.024-0.052] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1388	chr14	105277208	105277209	rs4983559	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	14q32.33	ZBTB42, AKT1	rs4983559-G	0.4	1E-8		0.02	[NR] unit increase	NR [NR] (imputed)	N
1388	chr14	105346906	105346907	rs2841233	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q32.33	NR	rs2841233-C	0.642908958091841	7E-6	(IGP30)	0.1475	[0.083-0.212] unit decrease	Illumina [~ 2500000] (imputed)	N
1388	chr14	105349387	105349388	rs2028414	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	14q32.33	NR	rs2028414-C	0.635674106107891	8E-6	(IGP33)	0.1399	[0.079-0.201] unit increase	Illumina [~ 2500000] (imputed)	N
1389	chr14	105391004	105391005	rs2841277	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	14q32.33	PLD4	rs2841277-T	0.69	2E-14		1.15	[1.11-1.19]	Affymetrix, Illumina [1948139]	N
1389	chr14	105392836	105392837	rs2582532	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	14q32.33	AHNAK2, PLD4	rs2582532-C	0.86	3E-7		1.17	[1.10-1.24]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1389	chr14	105392836	105392837	rs2582532	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	14q32.33	AHNAK2, PLD4	rs2582532-C	0.73	5E-8	(East Asian)	1.18	[1.11-1.25]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1391	chr14	105728196	105728197	rs76752037	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	14q32.33	NR	rs76752037-?	NR	5E-6	(Native Hawaiian)	0.826	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1391	chr14	105729791	105729792	rs3000073	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	14q32.33	BRF1	rs3000073-G	NR	3E-11		0.007	[0.005-0.009] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1392	chr14	105873143	105873144	rs6576086	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	14q32.33	LOC647310	rs6576086-?	NR	4E-7		7.698	[4.88-10.52] unit decrease	Illumina [498648]	N
1392	chr14	105873143	105873144	rs6576086	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	14q32.33	LOC64710	rs6576086-?	NR	3E-7		21.63	[13.82-29.44] unit decrease	Illumina [498648]	N
1392	chr14	105873143	105873144	rs6576086	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	128 Han Chinese ancestry cases	NA	14q32.33	LOC647310	rs6576086-?	NR	6E-7		4.738	[2.98-6.5] unit decrease	Illumina [498648]	N
1395	chr14	106172879	106172880	rs11621145	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	14q32.33	intergenic	rs11621145-G	NR	4E-37		0.23	[NR] unit increase	NR [485236]	N
1395	chr14	106232584	106232585	rs10136766	23225573	Buck D	2012-09-08	Ann Neurol	Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis.	IgG levels	229 European ancestry multiple sclerosis cases	409 European ancestry multiple sclerosis cases	14q32.33	IGHG1, IGHG2, IGHG3	rs10136766-A	0.27	8E-16		0.229	[NR] unit increase	Illumina [526014]	N
1402	chr14	107176212	107176213	rs10129255	21326860	Tsai FJ	2011-02-04	PLoS One	Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.	Kawasaki disease	250 Han Chinese ancestry cases, 446 Han Chinese ancestry controls	208 Han Chinese ancestry cases, 366 Han Chinese ancestry controls	14q32.33	IGHV	rs10129255-A	0.34	7E-6		1.315	[1.116-1.551]	Affymetrix [723638]	N
1402	chr14	107180573	107180574	rs2337406	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	14q32.33	IGH	rs2337406-C	0.897	3E-7		1.1494	[1.09-1.2]	Illumina [7055881] (imputed)	N
765	chr15	23647410	23647411	rs937741	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	15q11.2	HERC2P6	rs937741-?	NR	5E-7	(SBP,CPD)			Affymetrix [2485435] (imputed)	N
765	chr15	23647748	23647749	rs183418565	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	15q11.2	NR	rs183418565-?	NR	2E-6				NR [up to 8466825] (imputed)	N
766	chr15	23817720	23817721	rs2900	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q11.2	NR	rs2900-G	0.860145730752114	4E-6	(IGP14)	0.2021	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
768	chr15	24002326	24002327	rs824192	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	15q11.2	NDN	rs824192-T	0.41	5E-6		0.43	[0.25-0.61] unit decrease	Illumina [NR] (imputed)	N
768	chr15	24062914	24062915	rs7164923	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	15q11.2	NR	rs7164923-T		5E-6				Illumina [2373249] (imputed)	N
769	chr15	24152093	24152094	rs12148769	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	15q11.2	MKRN3, MAGEL2	rs12148769-G	0.9	5E-11		0.05	[0.034-0.066] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
773	chr15	24741290	24741291	rs35600665	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q11.2	C15orf2	rs35600665-A	0.151	7E-6	(DBP )	0.02	[NR] mmHg increase	Illumina [899892]	N
774	chr15	24824187	24824188	rs11858159	22550155	Edelstein LC	2012-05-01	Circulation	Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress.	Platelet thrombus formation	125 European ancestry individuals, 116 African American individuals	NA	15q11.2	PWRN1	rs11858159-?	NR	9E-7	(AA)	0.005737	[0.0034-0.008] unit increase	Illumina [at least 620901]	N
775	chr15	24924662	24924663	rs12902137	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	15q11.2	C15orf2	rs12902137-T	0.72	6E-6	(Age 20-60 years)	0.1809	[0.10-0.26] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
775	chr15	25022987	25022988	rs8030136	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	15q11.2	SNRPN	rs8030136-T	0.17	6E-6	(Age 20-81 years)	0.1934	[0.11-0.28] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
776	chr15	25078786	25078787	rs3867498	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	15q11.2	SNRPN	rs3867498-?	NR	1E-6	(FEV1slope)			Affymetrix [70897]	N
776	chr15	25133985	25133986	rs2030062	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q11.2	SNRPN	rs2030062-G	0.105	2E-6	(Amylin )	0.03	[NR] pM increase	Illumina [899892]	N
780	chr15	25602949	25602950	rs8025093	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q11.2	UBE3A	rs8025093-C	0.0030	4E-6	(BMD )	0.03	[NR] g/cm2 increase	Illumina [899892]	N
781	chr15	25784775	25784776	rs73371737	25713168	Leng S	2015-02-23	J Natl Cancer Inst	15q12 Variants, Sputum Gene Promoter Hypermethylation, and Lung Cancer Risk: A GWAS in Smokers.	Gene methylation in lung tissue	1,163 European ancestry smoker individuals	718 European ancestry smoker individuals	15q12	UBE3A, GABRG3	rs73371737-A,rs7179575-C	0.07	3E-9		1.57	[1.35-1.82]	Illumina [1599980]	N
781	chr15	25784775	25784776	rs73371737	25713168	Leng S	2015-02-23	J Natl Cancer Inst	15q12 Variants, Sputum Gene Promoter Hypermethylation, and Lung Cancer Risk: A GWAS in Smokers.	Gene methylation in lung tissue	1,163 European ancestry smoker individuals	718 European ancestry smoker individuals	15q12	UBE3A	rs73371737-A	0.11	3E-8		1.35	[1.21-1.50]	Illumina [1599980]	N
782	chr15	25894657	25894658	rs6576443	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	15q12	ATP10A	rs6576443-A		6E-9	(EA)			Illumina [NR]	N
782	chr15	25912338	25912339	rs17636733	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	15q12	UBE3A	rs17636733-?	NR	2E-7	(recessive)			Affymetrix [361034]	N
785	chr15	26277544	26277545	rs4906844	21810643	Bakken TE	2011-08-01	Arch Gen Psychiatry	Association of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia.	Cortical thickness	573 European ancestry cases, 481 European ancestry controls	NA	15q12	LOC100128714	rs4906844-?	NR	1E-8		0.07	[NR] mm decrease	Affymetrix [597198]	N
785	chr15	26288393	26288394	rs6576507	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	15q12	ATP10A	rs6576507-A	0.13	7E-6	(HOMA-IR)	13.0	[7.00 - 20.00] % increase	Affymetrix [872243]	N
785	chr15	26288393	26288394	rs6576507	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	15q12	ATP10A	rs6576507-A	0.13	4E-7	(Insulin)	14.0	[8.00-20.00] % increase	Affymetrix [872243]	N
786	chr15	26424046	26424047	rs547843	22832964	David SP	2012-05-22	Transl Psychiatry	Genome-wide meta-analyses of smoking behaviors in African Americans.	Smoking behavior	Up to 32,389 African American individuals	NA	15q12	LOC503519	rs547843-C	0.65	6E-7	(CPD)	0.035	[0.021-0.049] unit decrease	Affymetrix, Illumina [~ 2900000] (imputed)	N
788	chr15	26722015	26722016	rs79252495	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q12	intergenic	rs79252495-A	0.032	6E-8		4.25	[2.42-7.48]	Illumina [1556551]	N
789	chr15	26804130	26804131	rs61996546	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	15q12	GABRB3, GABRG3	rs61996546-C	NR	3E-6	(PhysVAS)	0.78	[0.47-1.09] unit decrease	Illumina [586062]	N
790	chr15	26973085	26973086	rs8043440	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	15q12	GABRB3	rs8043440-?	0.1695	2E-6	(SRM)			Illumina [475971]	N
791	chr15	27012140	27012141	rs3212335	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	15q12	GABRB3	rs3212335-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
792	chr15	27228345	27228346	rs1432133	25705159	Hong Y	2014-12-31	Genomics Inform	Genome-wide association study of hepatitis in korean populations.	Hepatitis	1,500 Korean ancestry cases, 1,500 Korean ancestry controls	NA	15q12	intergenic	rs1432133-T	NR	7E-9		1.02	[NR]	NR [352000]	N
793	chr15	27323198	27323199	rs7179575	25713168	Leng S	2015-02-23	J Natl Cancer Inst	15q12 Variants, Sputum Gene Promoter Hypermethylation, and Lung Cancer Risk: A GWAS in Smokers.	Gene methylation in lung tissue	1,163 European ancestry smoker individuals	718 European ancestry smoker individuals	15q12	UBE3A, GABRG3	rs73371737-A,rs7179575-C	0.07	3E-9		1.57	[1.35-1.82]	Illumina [1599980]	N
793	chr15	27323198	27323199	rs7179575	25713168	Leng S	2015-02-23	J Natl Cancer Inst	15q12 Variants, Sputum Gene Promoter Hypermethylation, and Lung Cancer Risk: A GWAS in Smokers.	Gene methylation in lung tissue	1,163 European ancestry smoker individuals	718 European ancestry smoker individuals	15q12	GABRG3	rs7179575-C	0.64	4E-6		1.2	[1.11-1.30]	Illumina [1599980]	N
794	chr15	27507772	27507773	rs17137734	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	15q12	GABRG3	rs17137734-T	NR	9E-6		0.0893	[0.049-0.129] mm increase	Illumina [1704858] (imputed)	N
796	chr15	27712643	27712644	rs74006954	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		15q12	GABRG3	rs74006954-?	0.03	3E-7		0.28	unit decrease	Illumina [NR] (imputed)	N
798	chr15	27997246	27997247	rs17565841	19772629	Latourelle JC	2009-09-22	BMC Med Genet	Genomewide association study for onset age in Parkinson disease.	Parkinson's disease (age of onset)	857 European ancestry familial cases, 440 idiopathic cases	747 European ancestry idiopathic cases	15q12	OCA2	rs17565841-A	NR	3E-6		2.84	[NR] years decrease	Illumina, Perlegen [1861750] (imputed)	N
800	chr15	28196820	28196821	rs7173419	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Eye color	3871 European ancestry individuals	2,496 European ancestry individuals	15q13.1	OCA2	rs7173419-T	NR	1E-7	(Brown eye color)	0.33	[0.21-0.45] unit increase	Affymetrix, Illumina [2469762] (imputed)	N
800	chr15	28205563	28205564	rs4778214	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	15q13.1	NR	rs4778214-?		9E-6	(AA)			Illumina [up to 524000]	N
801	chr15	28335819	28335820	rs4778138	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	15q13.1	OCA2	rs4778138-G	0.16	2E-11		0.17	[NR] unit decrease	Affymetrix, Illumina [at least 1569314] (imputed)	N
801	chr15	28344237	28344238	rs7495174	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Red vs non-red hair color	181 European ancestry red hair individuals, 6,910 European ancestry non-red hair individuals	NA	15q13.1	OCA2	rs7495174-?	0.986	2E-6		1.4411299	[0.27-2.61]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
801	chr15	28344237	28344238	rs7495174	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Light vs. dark hair color	3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals	NA	15q13.1	OCA2	rs7495174-?	0.986	3E-6		3.1094527	[2.63-3.59]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
801	chr15	28344237	28344238	rs7495174	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Brown vs. non-brown hair color	3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals	NA	15q13.1	OCA2	rs7495174-?	0.986	2E-6		2.8216703	[2.40-3.25]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
801	chr15	28344237	28344238	rs7495174	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Blond vs non-blond hair color	2,888 European ancestry blond hair individuals, 4,203 European ancestry non-blond hair individuals	NA	15q13.1	OCA2	rs7495174-?	0.014	9E-7		3.5485	[3.04-4.05]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
801	chr15	28356858	28356859	rs1129038	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	15q13.1	HERC2, OCA2	rs1129038-C	0.27	4E-8		1.22	[NR]	Illumina [495821]	N
801	chr15	28365617	28365618	rs12913832	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Perceived skin darkness	9,316 European ancestry individuals	5,278 European ancestry individuals	15q13.1	HERC2	rs12913832-A	0.200017073587161	4E-77		0.21006678	[0.19-0.23] unit increase	Illumina [up to 11155022] (imputed)	N
801	chr15	28365617	28365618	rs12913832	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q13.1	HERC2, OCA2, RPL41P2	rs12913832-A	0.233	7E-14		3.48	[2.47-4.89]	Illumina [1556551]	N
801	chr15	28365617	28365618	rs12913832	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Tanning	9,678 European ancestry individuals		15q13.1	HERC2	rs12913832-G	NR	1E-22		0.14	[0.12-0.16] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
801	chr15	28365617	28365618	rs12913832	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Hair color	7,070 European ancestry individuals	4,155 European ancestry individuals	15q13.1	HERC2	rs12913832-G	NR	1E-167		0.39	[0.37-0.41] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
801	chr15	28365617	28365618	rs12913832	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Eye color	3871 European ancestry individuals	2,496 European ancestry individuals	15q13.1	HERC2	rs12913832-G	NR	1E-158	(Blue eye color)	2.84	[2.62-3.06] unit decrease	Affymetrix, Illumina [2469762] (imputed)	N
801	chr15	28365617	28365618	rs12913832	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Eye color	3871 European ancestry individuals	2,496 European ancestry individuals	15q13.1	HERC2	rs12913832-A	NR	1E-177	(Brown eye color)	2.82	[2.62-3.02] unit increase	Affymetrix, Illumina [2469762] (imputed)	N
801	chr15	28365617	28365618	rs12913832	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	15q13.1	OCA2	rs12913832-A	0.23	9E-88	(hair color)	0.97	[NR] unit increase	Illumina [535076]	N
801	chr15	28365617	28365618	rs12913832	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eye color	9,126 European ancestry individuals	NA	15q13.1	OCA2	rs12913832-A	0.23	3E-52	(green eyes)	8.43	[NR]	Illumina [535076]	N
801	chr15	28365617	28365618	rs12913832	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eye color	9,126 European ancestry individuals	NA	15q13.1	OCA2	rs12913832-A	0.23	1E-300	(eye color)	2.49	[NR] unit increase	Illumina [535076]	N
801	chr15	28365617	28365618	rs12913832	20463881	Liu F	2010-05-16	PLoS Genet	Digital quantification of human eye color highlights genetic association of three new loci.	Eye color traits	5,951 European ancestry individuals	3,543 European ancestry individuals	15q13.1	HERC2, OCA	rs12913832-?	NR	1E-300	(RS123 cohort)			Illumina [2543887] (imputed)	N
801	chr15	28365617	28365618	rs12913832	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. red hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	15q13.1	HERC2	rs12913832-A	NR	1E-77		0.44	[0.40-0.48] hair color score decrease	Illumina [528173]	N
801	chr15	28365617	28365618	rs12913832	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. blond hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	15q13.1	HERC2	rs12913832-A	NR	4E-103		0.44	[0.40-0.48] hair color score decrease	Illumina [528173]	N
802	chr15	28457539	28457540	rs149963581	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin sensitivity to sun	2,668 European ancestry individuals	NA	15q13.1	HERC2	rs149963581-C	0.03	2E-7		0.441	[0.28-0.61] unit increase	Illumina [NR] (imputed)	N
802	chr15	28488887	28488888	rs8028689	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		15q13.1	NR	rs8028689-G	0.05	7E-6	(Any IgH translocation vs. controls)	1.65	[1.33-2.05]	Illumina [414804] (imputed)	N
802	chr15	28511996	28511997	rs79097182	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Light vs. dark hair color	3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals	NA	15q13.1	HERC2	rs79097182-?	0.962	5E-14		2.564103	[2.29-2.84]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
802	chr15	28511996	28511997	rs79097182	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Brown vs. non-brown hair color	3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals	NA	15q13.1	HERC2	rs79097182-?	0.962	4E-9		2.07168	[1.83-2.31]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
802	chr15	28511996	28511997	rs79097182	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Blond vs non-blond hair color	2,888 European ancestry blond hair individuals, 4,203 European ancestry non-blond hair individuals	NA	15q13.1	HERC2	rs79097182-?	0.038	2E-14		2.9822	[2.70-3.26]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
802	chr15	28513363	28513364	rs916977	18252221	Kayser M	2008-01-24	Am J Hum Genet	Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.	Iris color	925 Erasmus Ruchpen individuals, 481 European ancestry females	5,575 European ancestry individuals, 1,292 Erasmus Ruchpen individuals	15q13.1	HERC2	rs916977-?	NR	1E-43				Affymetrix, Illumina [up to 500000]	N
802	chr15	28530181	28530182	rs1667394	23118974	Candille SI	2012-10-31	PLoS One	Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.	Eye color	175 European ancestry individuals	293 European ancestry individuals	15q13.1	HERC2, OCA2	rs1667394-C	0.28	2E-20	(Eye color)	0.353	[0.28-0.42] unit increase	Illumina [313763]	N
802	chr15	28530181	28530182	rs1667394	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Blue vs. green eyes	2,986 individuals	3,932 individuals	15q13.1	OCA2	rs1667394-A	0.98	2E-53		6.74	[4.61-9.83]	Illumina [317511]	N
802	chr15	28530181	28530182	rs1667394	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Blue vs. brown eyes	2,986 individuals	3,932 individuals	15q13.1	OCA2	rs1667394-A	0.88	1E-241		29.43	[21.47-40.35]	Illumina [317511]	N
802	chr15	28530181	28530182	rs1667394	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Blond vs. brown hair color	2,986 European ancestry individuals	3,932 European ancestry individuals	15q13.1	OCA2	rs1667394-A	0.88	6E-35		4.94	[3.16-7.71]	Illumina [317511]	N
802	chr15	28533564	28533565	rs1667392	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	15q13.1	HERC2, OCA2	rs1667392-G	0.25	4E-14		0.01	[NR] unit increase	Illumina [11155022] (imputed)	N
804	chr15	28760305	28760306	rs150848999	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	15q13.1	NR	rs150848999-?	NR	4E-6	(Japanese)	0.2222	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
806	chr15	29006092	29006093	rs8033165	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. red hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	15q13.1	intergenic	rs8033165-T	NR	2E-12		0.15	[0.11-0.19] hair color score increase	Illumina [528173]	N
806	chr15	29006092	29006093	rs8033165	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. blond hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	15q13.1	intergenic	rs8033165-T	NR	5E-11		0.12	[0.08-0.16] hair color score increase	Illumina [528173]	N
808	chr15	29239816	29239817	rs17680945	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	15q13.1	APBA2	rs17680945-A	0.02	2E-6	(Harm avoidance)	0.92	unit increase	Affymetrix, Illumina [1252222] (imputed)	N
808	chr15	29338501	29338502	rs1873283	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (rapamycin)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	15q13.1	APBA2	rs1873283-?	NR	6E-6		0.28	[NR] unit decrease	Affymetrix, Illumina [1348798]	N
809	chr15	29424754	29424755	rs2636061	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q13.1	FAM189A1	rs2636061-A	0.0070	7E-6	(Folate )	0.02	[NR] nmol/L increase	Illumina [899892]	N
811	chr15	29731443	29731444	rs11856574	22247754	Murray SS	2012-01-11	PLoS One	Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias.	Life threatening arrhythmia	607 European ancestry cases, 297 European ancestry controls	NA	15q13.1	KIAA0574	rs11856574-G	0.86	5E-6		2.02		Illumina [NR] (imputed)	N
812	chr15	29876648	29876649	rs75646498	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q13.1	intergenic	rs75646498-A	0.03	8E-7		4.0	[2.21-7.22]	Illumina [1556551]	N
813	chr15	29888395	29888396	rs1471225	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	15q13.1	intergenic	rs1471225-?	NR	8E-6	(count)			Perlegen [429981]	N
815	chr15	30173884	30173885	rs785422	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	15q13.1	TJP1	rs785422-T	0.11	3E-11		0.14	[0.1-0.18] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
815	chr15	30193467	30193468	rs711355	23241943	Clark SL	2012-12-12	Pharmacogenet Genomics	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	Response to antipsychotic treatment	Up to 421 European ancestry Schizophrenia cases, up to 214 African American individuals, up to 103 individuals	NA	15q13.1	TJP1	rs711355-T	0.33	2E-7	(Effect of Risperidone on PGI)			Affymetrix [492900]	N
820	chr15	30898331	30898332	rs143536437	23962720	Speed D	2013-08-19	Hum Mol Genet	A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.	Epilepsy (remission after treatment)	889 European and unknown ancestry epilepsy cases	NA	15q13.2	ARHGAP11B	rs143536437-C	0.72	3E-6		1.73	[NR]	Illumina [6923995] (imputed)	N
823	chr15	31215934	31215935	rs7178375	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	Hypertriglyceridemia	1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls	15q13.3	MTMR15, MTMR10, TRPM1	rs7178375-?	0.73	6E-6		1.27	[1.17-1.37]	Illumina [1361436] (imputed)	N
824	chr15	31334361	31334362	rs17815774	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	15q13.3	TRPM1	rs17815774-?	NR	3E-6	(risperidone)	9.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
825	chr15	31463377	31463378	rs7169523	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	15q13.3	NR	rs7169523-G	0.22	2E-6		1.4	[1.22-1.60]	Illumina [274256]	N
825	chr15	31538541	31538542	rs8041227	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	15q13.3	LOC283710, KLF13	rs8041227-G	0.72	6E-10		1.52	[NR]	Illumina [1468075]	N
825	chr15	31540394	31540395	rs74609360	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q13.3	intergenic	rs74609360-A	0.03	2E-7		4.14	[2.32-7.39]	Illumina [1556551]	N
826	chr15	31708262	31708263	rs8042543	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q13.3	KLF13	rs8042543-C	0.7824	1E-9	(EA)	0.0263	[0.018-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
826	chr15	31708262	31708263	rs8042543	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q13.3	KLF13	rs8042543-C	0.781	1E-10		0.0271	[0.019-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
826	chr15	31708262	31708263	rs8042543	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q13.3	KLF13	rs8042543-C	0.7794	1E-6	(EA, men)	0.0302	[0.018-0.042] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
826	chr15	31708262	31708263	rs8042543	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q13.3	KLF13	rs8042543-C	0.7763	3E-7	(men)	0.0309	[0.019-0.043] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
827	chr15	31793929	31793930	rs7164569	23650146	Tang W	2013-05-05	Genet Epidemiol	A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Venous thromboembolism	1,618 European ancestry cases, 42,881 European ancestry controls	3,231 European ancestry cases, 3,536 European ancestry controls	15q13.3	OTUD7A	rs7164569-A	0.36	3E-6		1.15	[1.09-1.23]	Affymetrix, Illumina [2543885] (imputed)	N
827	chr15	31829706	31829707	rs2125623	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	15q13.3	OTUD7A	rs2125623-C	0.71	1E-6	(EA)	1.23	[0.99-1.54]	Affymetrix [up to 2366858] (imputed)	N
829	chr15	31986242	31986243	rs192142097	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	15q13.3	NR	rs192142097-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
836	chr15	32927475	32927476	rs8037818	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q13.3	ARHGAP11A, SCG5	rs8037818-G	0.181	5E-8	(Sleep duration )	0.04	[NR] min/d increase	Illumina [899892]	N
836	chr15	32994755	32994756	rs4779584	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	15q13.3	CRAC1, HMPS, GREM1	rs4779584-T	0.81	1E-8		1.12	[1.08-1.16]	Affymetrix, Illumina [~ 2500000] (imputed)	N
836	chr15	32994755	32994756	rs4779584	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	15q13.3	CRAC1, HMPS, GREM1	rs4779584-?	0.18	5E-7		1.12	[1.08-1.19]	Affymetrix, Illumina [2708280] (imputed)	N
836	chr15	32994755	32994756	rs4779584	21761138	Peters U	2011-07-15	Hum Genet	Meta-analysis of new genome-wide association studies of colorectal cancer risk.	Colorectal cancer	2,906 European ancestry cases, 3,416 European ancestry controls	8,161 European ancestry cases, 9,101 European ancestry controls	15q13.3	GREM1, SCG5	rs4779584-?	0.19	2E-8		1.18	[1.11-1.24]	Illumina [378739]	N
836	chr15	32994755	32994756	rs4779584	18372905	Tomlinson IP	2008-03-30	Nat Genet	A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.	Colorectal cancer	922 European ancestry cases, 927 European ancestry controls	17,089 European ancestry cases, 16,862 European ancestry controls, 783 cases, 664 controls	15q13.3	intergenic	rs4779584-?	0.19	5E-7		1.23	[1.14-1.34]	Illumina [547647]	N
836	chr15	33010411	33010412	rs2293582	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	15q13.3	GREM1, SCG5	rs2293582-A	0.21	3E-11		1.21	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
836	chr15	33012501	33012502	rs73376930	24737748	Whiffin N	2014-04-15	Hum Mol Genet	Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.	Colorectal cancer	5,626 European ancestry cases, 7,817 European ancestry controls	14,037 European ancestry cases, 15,937 European ancestry controls	15q13.3	GREM1, SCG5	rs73376930-G	0.207	1E-11		1.246	[NR]	Illumina [NR] (imputed)	N
836	chr15	33023984	33023985	rs3743104	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	15q13.3	GREM1	rs3743104-G	0.554	6E-10		1.24	[NR]	Illumina [8207076] (imputed)	N
837	chr15	33050422	33050423	rs1258763	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	15q13.3	NR	rs1258763-?	NR	2E-6	(Meta-All, NSCL/P)			NR [497084]	N
837	chr15	33050422	33050423	rs1258763	20023658	Mangold E	2009-12-20	Nat Genet	Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.	Orofacial clefts	399 European ancestry cases, 1,318 European ancestry controls	655 European ancestry triads	15q13.3	GREM1, FMN1	rs1258763-A	0.66	1E-6		1.52	[1.23-1.86]	Illumina [521288]	N
837	chr15	33126453	33126454	rs1258767	24662972	Figueroa JD	2014-03-24	Carcinogenesis	Genome-wide interaction study of smoking and bladder cancer risk.	Bladder cancer (smoking interaction)	560 European ancestry never smoker cases, 2,442 European ancestry ever smoker cases, 1,406 European ancestry never smoker controls, 3,005 European ancestry ever smoker controls	494 European ancestry never smoker cases, 1,927 European ancestry ever smoker cases, 2,257 European ancestry never smoker controls, 3,490 European ancestry ever smoker controls	15q13.3	FMN1	rs1258767-?	NR	7E-7	(additive, retrospective analysis)			Illumina [491011]	N
840	chr15	33493220	33493221	rs6494964	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q13.3	NR	rs6494964-G	0.686050906432748	6E-6	(IGP2)	0.1846	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
840	chr15	33493220	33493221	rs6494964	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q13.3	NR	rs6494964-G	0.685883860674157	8E-6	(IGP42)	0.1819	[0.1-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
840	chr15	33505066	33505067	rs974379	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	15q13.3	FMN1	rs974379-C	0.075	8E-6	(% improvement - 2 weeks)	1.2872	[1.17-1.4]	Affymetrix, Illumina [1200000] (imputed)	N
840	chr15	33528267	33528268	rs8025470	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q13.3	NR	rs8025470-A	NR	8E-6		1.1	[NR]	Illumina [7158791] (imputed)	N
841	chr15	33564481	33564482	rs8035094	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	15q13.3	intergenic	rs8035094-?		5E-6	(disease-free survival)	2.68	[1.75-4.09]	Illumina [729737]	N
841	chr15	33597075	33597076	rs2676071	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	15q13.3	RYR3	rs2676071-T	0.58	7E-6	(Age 20-81 years)	0.0443	[0.025-0.064] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
843	chr15	33905409	33905410	rs2229116	20009918	Shrestha S	2010-01-01	AIDS	A genome-wide association study of carotid atherosclerosis in HIV-infected men.	Carotid atherosclerosis in HIV infection	177 European ancestry individuals	NA	15q14	RYR3	rs2229116-G	0.18	3E-8	(common cIMT)			Illumina [311194]	N
844	chr15	33953089	33953090	rs4780141	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	15q14	NR	rs4780141-T	0.0411	1E-6	(Trans/trans-18:2, EA)	0.0028	[0.0016-0.004] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
844	chr15	33953907	33953908	rs7181696	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	15q14	NR	rs7181696-T	0.0407	1E-6	(Trans/trans-18:2, EA)	0.0028	[0.0016-0.004] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
844	chr15	33953940	33953941	rs7174989	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	15q14	NR	rs7174989-A	0.9595	1E-6	(Trans/trans-18:2, EA)	0.0028	[0.0016-0.004] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
844	chr15	33954651	33954652	rs4780144	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	15q14	NR	rs4780144-T	0.961	2E-6	(Trans/trans-18:2, EA)	0.0027	[0.0015-0.0039] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
849	chr15	34659516	34659517	rs117799466	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q14	NR	rs117799466-C	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
851	chr15	34976869	34976870	rs6495706	25138779	Mitchell LE	2014-08-18	Hum Mol Genet	Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.	Congenital left-sided heart lesions	284 European ancestry case-parent trios, up to 93 case-parent trios	216 European ancestry case-parent trios, 8 case-parent trios	15q14	GJD2	rs6495706-?	0.94	9E-6	(EA)	2.13	[1.52-3.03]	Illumina [1712604] (imputed)	N
851	chr15	34984882	34984883	rs1370156	25233373	Simpson CL	2014-09-18	PLoS One	Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.	Myopia	3,923 European ancestry cases, 11,696 European ancestry controls	1,410 European ancestry cases, 2,921 cases, 3,171 European ancestry controls, 998 controls	15q14	GJD2	rs1370156-?		2E-7				Affymetrix, Illumina [up to 3397980] (imputed)	N
851	chr15	34989625	34989626	rs11073058	25823570	Miyake M	2015-03-31	Nat Commun	Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia.	Axial length	Up to 3,248 Japanese ancestry individuals	3,460 Japanese ancestry individuals	15q14	GJD2	rs11073058-T	0.473	2E-8		0.09	[0.031-0.149] unit increase	Illumina [1773334] (imputed)	N
851	chr15	34989625	34989626	rs11073058	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	15q14	GJD2, ACTC1	rs11073058-T	0.4532	4E-11		0.0661	[0.047-0.086] unit increase	Illumina [2500000] (imputed)	N
851	chr15	34989850	34989851	rs11073060	25233373	Simpson CL	2014-09-18	PLoS One	Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.	Hyperopia	7,068 European ancestry cases, 6,844 European ancestry controls	1,554 European ancestry cases, 892 cases, 1,654 European ancestry controls, 2,921 controls	15q14	GJD2	rs11073060-?		9E-11				Affymetrix, Illumina [up to 3397980] (imputed)	N
852	chr15	35005885	35005886	rs524952	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	15q14	GJD2	rs524952-A	0.48	1E-15		0.158	[0.12-0.2] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
852	chr15	35006072	35006073	rs634990	20835239	Solouki AM	2010-09-12	Nat Genet	A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.	Refractive error	5,328 European ancestry individuals	10,280 European ancestry individuals	15q14	GJD2, GOLGA8B, ACTC1	rs634990-C	0.47	2E-14		0.23	[0.228-0.232] diopter increase	Illumina [~ 2500000] (imputed)	N
852	chr15	35060462	35060463	rs12232346	26114229	Ashley-Koch AE	2015-06-12	J Affect Disord	Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.	Post-traumatic stress disorder	949 non-Hispanic black individuals, 759 European ancestry individuals	NA	15q14	AK092087	rs12232346-?	NR	2E-6			[NR]	Illumina [up to 5616481] (imputed)	N
852	chr15	35068308	35068309	rs543686	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	15q14	ACTC1	rs543686-?	NR	4E-6	(rs6983267)	1.24	[1.13-1.35]	Affymetrix, Illumina [1117531] (imputed)	N
852	chr15	35105656	35105657	rs11852984	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide behavior	577 European ancestry cases, 1,233 European ancestry controls	NA	15q14	intergenic	rs11852984-C	0.2	2E-6		1.802	[1.418-2.291]	Illumina [794207]	N
854	chr15	35346540	35346541	rs10162694	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	15q14	ZNF770, LOC441722	rs10162694-A	0.08	9E-6	(Dominant model)	1.55	[NR]	Illumina [1795103]	N
858	chr15	35858582	35858583	rs6495785	24045676	Pyun JA	2013-09-16	Menopause	Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population.	Menopause (age at onset)	1,827 Korean ancestry females	NA	15q14	AS1, ATPBD4	rs6495785-A	0.787	5E-6		0.69	[0.40-0.98] unit decrease	Affymetrix [343107]	N
860	chr15	36049491	36049492	rs2947253	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		15q14	ATPBD4, RP11-702M1.1	rs2947253-G	0.11	4E-6		3.38	[2.01-5.68]	Illumina [518577]	N
861	chr15	36293604	36293605	rs4923705	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	15q14	ATPBD4	rs4923705-C	0.27	2E-6		1.51	[NR]	Illumina [835136]	N
862	chr15	36313964	36313965	rs10520045	20673876	Rietschel M	2010-07-29	Biol Psychiatry	Genome-wide association-, replication-, and neuroimaging study implicates HOMER1 in the etiology of major depression.	Major depressive disorder	597 European ancestry cases, 1,295 European ancestry controls	409 European ancestry cases, 541 European ancestry controls	15q14	intergenic	rs10520045-T	0.27	7E-6		1.32	[1.17-1.50]	Illumina [491238]	N
862	chr15	36349845	36349846	rs1898036	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	15q14	intergenic	rs1898036-?	0.1	2E-7	(CSJC , EA, RF-)	7.73	[NR] unit decrease	Illumina [534053]	N
869	chr15	37342601	37342602	rs8041675	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	15q14	MEIS2	rs8041675-?	NR	4E-6	(count)			Perlegen [429981]	N
869	chr15	37349801	37349802	rs1568679	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	15q14	MEIS2	rs1568679-?	0.103	1E-8	(risperidone-hip circumference)			Affymetrix [492900]	N
870	chr15	37449618	37449619	rs17439560	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	15q14	intergenic	rs17439560-?	NR	4E-6	(SF10)			Affymetrix [5476100] (imputed)	N
872	chr15	37660048	37660049	rs587847	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	15q14	MEIS2	rs587847-C	0.38	1E-6		0.69	[0.42-0.96] mmHg decrease	Illumina [466573]	N
875	chr15	38129778	38129779	rs10152207	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	15q14	intergenic	rs10152207-?		5E-6	(overall survival)	3.06	[1.90-4.93]	Illumina [729737]	N
876	chr15	38220390	38220391	rs4620914	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	15q14	TMCO5A	rs4620914-T	0.11	2E-7		0.095	[0.06-0.13] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
878	chr15	38434890	38434891	rs10468092	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	15q14	NR	rs10468092-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
878	chr15	38464873	38464874	rs16966389	23646285	Khor SS	2013-04-16	PeerJ	Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.	Hypersomnia (HLA-DQB1*06:02 negative)	125 Japanese ancestry cases, 562 Japanese ancestry controls		15q14	SPRED1	rs16966389-G	0.642	7E-7	(dominant)	2.73	[1.82-4.10]	Affymetrix [508366] (imputed)	N
878	chr15	38511982	38511983	rs16966460	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	15q14	NR	rs16966460-G	0.10	4E-6		1.26	[NR]	Affymetrix [1769948] (imputed)	N
880	chr15	38733846	38733847	rs8029989	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	15q14	FAM98B, RASGRP1	rs8029989-?		4E-6				Affymetrix [545513]	N
880	chr15	38764842	38764843	rs11073328	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	15q14	FAM98B, TYRO3	rs11073328-T	0.098	1E-14		1.935	[1.771-2.11]	Illumina [NR]	N
881	chr15	38822904	38822905	rs7403531	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	15q14	RASGRP1	rs7403531-T	0.346	4E-9		1.1	[1.06-1.13]	Illumina [2234194] (imputed)	N
881	chr15	38834032	38834033	rs8032939	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	15q14	RASGRP1	rs8032939-C	0.6	9E-6	(East Asian)	1.12	[1.06-1.17]	Affymetrix, Illumina [up to 9739303] (imputed)	N
881	chr15	38834032	38834033	rs8032939	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	15q14	RASGRP1	rs8032939-C	0.35	2E-18		1.13	[1.10-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
881	chr15	38834032	38834033	rs8032939	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	15q14	RASGRP1	rs8032939-C	0.25	3E-14	(EA)	1.13	[1.09-1.17]	Affymetrix, Illumina [up to 9739303] (imputed)	N
881	chr15	38838263	38838264	rs8035957	18840781	Grant SF	2008-10-07	Diabetes	Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.	Type 1 diabetes	563 European ancestry cases, 1,146 European ancestry controls, 483 European ancestry trios	3,303 European ancestry cases, 4,673 European ancestry controls	15q14	RASGRP1	rs8035957-C	NR	4E-6		1.14	[1.08-1.21]	Illumina [up to 1000000]	N
881	chr15	38847021	38847022	rs72727394	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	15q14	NR	rs72727394-?	NR	5E-12	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
881	chr15	38899189	38899190	rs16967103	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	15q14	NR	rs16967103-G	0.1937	4E-7	(EA)	1.0664214	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
881	chr15	38899189	38899190	rs16967103	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	15q14	SPRED1, RASGRP1	rs16967103-C	0.203	4E-9		1.088	[1.045-1.132]	Affymetrix, Illumina [1230000] (imputed)	N
881	chr15	38907040	38907041	rs7171171	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	15q14	RASGRP1	rs7171171-C	NR	2E-7	(T1D)		[1.09-1.20]	Affymetrix, Illumina [NR]	N
882	chr15	38962755	38962756	rs1874252	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	15q14	NR	rs1874252-G	0.69	7E-6		1.32	[1.20-1.44]	Illumina [4058415] (imputed)	N
882	chr15	38986367	38986368	rs12912251	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	15q14	C15orf53	rs12912251-G	NR	3E-6		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
882	chr15	38986367	38986368	rs12912251	20351715	Liu Y	2010-03-30	Mol Psychiatry	Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.	Bipolar disorder or major depressive disorder (combined)	4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls	NA	15q14	C15orf53	rs12912251-?	NR	1E-6				Affymetrix, Perlegen [1472580] (imputed)	N
882	chr15	38995490	38995491	rs12899449	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	15q14	C15orf53, RASGRP1	rs12899449-?	0.72	4E-7		1.2	[NR]	Affymetrix [1769948] (imputed)	N
882	chr15	39003762	39003763	rs2643217	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	15q14	NR	rs2643217-?	NR	6E-6		1.2713	[NR]	Affymetrix [722112]	N
883	chr15	39148648	39148649	rs2624265	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	Metabolic traits	4,763 Northern Finnish founder individuals	NA	15q14	intergenic	rs2624265-G	0.42	4E-7	(TG)	0.07	[0.04-0.10] mmol/l increase	Illumina [329091]	N
884	chr15	39224885	39224886	rs61501627	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	15q14	NR	rs61501627-C	NR	4E-6	(phenotype 2)	4.35	[NR]	Illumina [> 8000000] (imputed)	N
884	chr15	39315357	39315358	rs12907914	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	15q14	C15orf54	rs12907914-?	NR	1E-6	(recessive)			Affymetrix [361034]	N
886	chr15	39543945	39543946	rs17691453	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	15q14	C15orf54	rs17691453-C		1E-6		0.1	[0.06-0.15] unit increase	Affymetrix [~ 2500000] (imputed)	N
886	chr15	39573534	39573535	rs12595668	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	PR interval	455 African American individuals	NA	15q14	intergenic	rs12595668-G		9E-6		6.26	[NR] ms decrease	Illumina [> 930000]	N
886	chr15	39576559	39576560	rs746265	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	PR interval	455 African American individuals	NA	15q14	intergenic	rs746265-C		8E-6		6.27	[NR] ms decrease	Illumina [> 930000]	N
890	chr15	40038432	40038433	rs8033957	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q14	FSIP1	rs8033957-G	0.449	2E-6	(Folate )	0.03	[NR] nmol/L increase	Illumina [899892]	N
892	chr15	40295958	40295959	rs2412459	24751813	Drago A	2014-06-01	Pharmacogenet Genomics	Genome-wide association study supports the role of the immunological system and of the neurodevelopmental processes in response to haloperidol treatment.	Response to haloperidol in psychosis	96 European ancestry cases	NA	15q15.1	EIF2AK4	rs2412459-C	0.218	9E-6	(Total PANSS scores)			Illumina [1080870] (imputed)	N
892	chr15	40322551	40322552	rs2250402	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	15q15.1	EIF2AK4	rs2250402-T	NR	6E-6		0.0592	[0.033-0.085] mm increase	Illumina [1704858] (imputed)	N
892	chr15	40324480	40324481	rs4432245	24827717	Yang F	2014-05-01	Biomed Environ Sci	Genome wide association study: searching for genes underlying body mass index in the Chinese.	Body mass index	597 Han Chinese ancestry individuals	2,955 Han Chinese ancestry individuals	15q15.1	EIF2AK4	rs4432245-C	0.473	1E-6				Affymetrix [281533]	N
892	chr15	40334575	40334576	rs2412475	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q15.1	SRP14	rs2412475-A	0.463	2E-6	(Folate )	0.03	[NR] nmol/L increase	Illumina [899892]	N
892	chr15	40339493	40339494	rs4924410	22327514	Postel-Vinay S	2012-02-12	Nat Genet	Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.	Ewing sarcoma	Up to 427 European ancestry cases, up to 4,352 European ancestry controls	661 European ancestry cases, 1,299 European ancestry controls	15q15.1	BMF, SRP14, EIF2AK4	rs4924410-A	0.27	7E-9		1.46	[1.23-1.74]	NR [286966]	N
892	chr15	40360740	40360741	rs7181230	21533175	Zhai G	2011-04-14	PLoS Genet	Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.	Dehydroepiandrosterone sulphate levels	14,846 European ancestry individuals	NA	15q15.1	BMF	rs7181230-G	0.33	5E-11		0.05	[0.03-0.07 u mol/L increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
893	chr15	40414115	40414116	rs8023845	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	15q15.1	BUB1B, BMF	rs8023845-G	0.78	2E-6		1.27	[NR]	Illumina [450000] (imputed)	N
894	chr15	40532867	40532868	rs4924439	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q15.1	PAK6	rs4924439-A	0.051	1E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
894	chr15	40567236	40567237	rs56205728	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q15.1	NR	rs56205728-A	NR	9E-8		1.07	[NR]	Illumina [7158791] (imputed)	N
894	chr15	40567236	40567237	rs56205728	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	15q15.1	ANKRD63, PAK6, PLCB2	rs56205728-A	0.274	4E-9		1.074	[1.048-1.099]	Affymetrix, Illumina [9005918] (imputed)	N
894	chr15	40595626	40595627	rs1869901	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	15q15.1	NR	rs1869901-?	NR	3E-6		1.07	[1.04-1.09]	Affymetrix, Illumina [1252901] (imputed)	N
895	chr15	40673464	40673465	rs78153629	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	15q15.1	KNSTRN	rs78153629-T	0.88	5E-6	(Left HG area)	17.44	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
895	chr15	40700021	40700022	rs10518693	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	15q15.1	IVD	rs10518693-T	0.396	1E-13	(SM-17 + 8 other traits)	0.092	[NR] unit increase	Affymetrix, Illumina [534665]	N
895	chr15	40703210	40703211	rs9635324	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	15q15.1	IVD	rs9635324-A	0.61	9E-43	(propionylcarnitine/isovalerylcarnitine)	0.036	[0.03-0.042] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
895	chr15	40703210	40703211	rs9635324	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	15q15.1	IVD	rs9635324-A	0.61	2E-35	(isovalerylcarnitine)	0.034	[0.028-0.04] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
895	chr15	40717301	40717302	rs2034650	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	15q15.1	intergenic	rs2034650-A	0.51	1E-11		1.3	[1.19-1.41]	Illumina [439828]	N
899	chr15	41196383	41196384	rs8036080	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	15q15.1	CHAC1, RHOV, DLL4, SPINT1, VPS18	rs8036080-A	0.01	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
902	chr15	41563949	41563950	rs28374715	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	15q15.1	NR	rs28374715-A	0.74	9E-8	(EA)	1.0816516		Affymetrix, Illumina [~ 9000000] (imputed)	N
902	chr15	41563949	41563950	rs28374715	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	15q15.1	ITPKA, NDUFAF1, NUSAP1	rs28374715-A	0.738	2E-8		1.082	[1.04-1.126]	Affymetrix, Illumina [1230000] (imputed)	N
903	chr15	41735709	41735710	rs2777491	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	15q15.1	NR	rs2777491-?	NR	8E-8	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
905	chr15	42072529	42072530	rs1105881	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	15q15.1	intergenic	rs1105881-C	0.643	7E-6		0.02	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
907	chr15	42332615	42332616	rs7172971	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	15q15.1	NR	rs7172971-?	NR	1E-8	(Japanese)	0.8034	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
908	chr15	42434836	42434837	rs1356410	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	15q15.1	NR	rs1356410-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
908	chr15	42434836	42434837	rs1356410	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	15q15.1	NR	rs1356410-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
910	chr15	42683786	42683787	rs2412710	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	15q15.1	CAPN3	rs2412710-A	0.04	2E-11		0.099	[NR] mg/dL increase	NR [NR] (imputed)	N
910	chr15	42683786	42683787	rs2412710	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	15q15.1	CAPN3	rs2412710-A	0.02	2E-8		7.0	[4.08-9.92] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
911	chr15	42859234	42859235	rs10851411	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	15q15.2	HAUS2, STARD9	rs10851411-?		6E-6	(SI+M)	0.14	[0.022-0.258] unit increase	Illumina [693128]	N
912	chr15	42984287	42984288	rs16957063	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	15q15.2	CDAN1	rs16957063-?	0.01	5E-7	(Ft4)			Illumina [496032]	N
913	chr15	43017425	43017426	rs16957091	26183928	Leng S	2015-07-16	Cancer Res	Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.	MGMT methylation in smokers	296  European ancestry individuals with MGMT methylation, 867 European ancestry individuals without MGMT methylation	107 European and Hispanic individuals with MGMT methylation, 323 European and Hispanic individuals without MGMT methylation	15q15.2	STARD9, CDAN1, TTBK2, UBR1	rs16957091-G	0.23	3E-7		1.7	[1.39-2.07]	Illumina [1599980]	N
914	chr15	43237413	43237414	rs62020698	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	15q15.2	UBR1, CAPN3	rs62020698-T	0.07	4E-10		0.091	[0.062-0.12] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
917	chr15	43559230	43559231	rs748404	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	15q15.2	TGM5	rs748404-?	NR	1E-6		1.15	[1.09-1.20]	Illumina [511919]	N
918	chr15	43702947	43702948	rs16957709	25758998	Rubicz R	2015-03-11	Eur J Hum Genet	Genome-wide genetic investigation of serological measures of common infections.	Antibody level in response to infection	1,932 Mexican-American individuals	NA	15q15.3	TP53BP1	rs16957709-C	0.006	5E-7	(Influenza A)	1.04	[NR] unit increase	Illumina [944565]	N
919	chr15	43836477	43836478	rs2251844	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	15q15.3	HISPPD2A	rs2251844-C	0.42	1E-14	(AFP)	0.087	[0.056-0.118] ng/ml increase	Affymetrix, Illumina [NR] (imputed)	N
922	chr15	44219606	44219607	rs16948098	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	15q15.3	FRMD5, WDR76	rs16948098-A	0.06	2E-8	(EA)	0.0229	[0.015-0.031] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
922	chr15	44245930	44245931	rs2929282	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	15q15.3	FRMD5	rs2929282-T	0.07	2E-9		0.072	[NR] mg/dL increase	NR [NR] (imputed)	N
922	chr15	44245930	44245931	rs2929282	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	15q15.3	FRMD5	rs2929282-T	0.05	2E-11		5.13	[3.44-6.82] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
922	chr15	44250312	44250313	rs2929278	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q15.3	NR	rs2929278-C	NR	6E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
922	chr15	44266729	44266730	rs138570705	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	15q15.3	FRMD5	rs138570705-A	0.02	3E-8		0.115	[0.074-0.156] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
931	chr15	45357409	45357410	rs2854437	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	15q21.1	SORD	rs2854437-G	0.87	2E-6		1.2345679	[1.14-1.35]	NR [NR]	N
932	chr15	45500046	45500047	rs765787	22229870	Karns R	2012-01-09	Ann Hum Genet	Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.	Uric acid levels	1,300 European ancestry individuals	NA	15q21.1	SLC28A2	rs765787-G	0.15	3E-6		20.9	[NR] umol/L increase	Affymetrix [2241249] (imputed)	N
933	chr15	45641224	45641225	rs2453533	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	15q21.1	SPATA5L1, GATM	rs2453533-?	0.38	5E-22	(eGFRcrea)			Affymetrix, Illumina [~ 2500000] (imputed)	N
933	chr15	45652702	45652703	rs1153858	24047826	Kleber ME	2013-09-18	Circ Cardiovasc Genet	Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium.	Homoarginine levels	5,143 European ancestry individuals	1,474 European ancestry individuals	15q21.1	GATM	rs1153858-C	0.72	1E-45		0.271	[NR] unit decrease	Affymetrix, Illumina [2543887] (imputed)	N
933	chr15	45686090	45686091	rs2433610	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	15q21.1	GATM	rs2433610-T	0.49	9E-12	(Creatine)	0.09	[NR] unit increase	Affymetrix [2341704] (imputed)	N
933	chr15	45698792	45698793	rs2467853	19430482	Kottgen A	2009-05-10	Nat Genet	Multiple loci associated with indices of renal function and chronic kidney disease.	Renal function and chronic kidney disease	2,388 European ancestry cases, 17,489 European ancestry controls	1,932 cases, 19,534 controls	15q21.1	SPATA5L1, GATM	rs2467853-G	0.38	6E-14	(eGFRcrea)	0.01	[0.009-0.017] ml/min/1.73m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
933	chr15	45719186	45719187	rs17536527	23535967	Tin A	2013-03-28	J Hum Genet	Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.	Glomerular filtration rate	9,049 European ancestry individuals		15q21.1	SPATA5L1	rs17536527-C	0.47	8E-10	(3-measure Model)	1.13	[0.78-1.48] unit decrease	Affymetrix [> 2500000] (imputed)	N
934	chr15	45801034	45801035	rs950027	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	15q21.1	SLC30A4	rs950027-?	NR	5E-6	(Response)	0.04	[0.024-0.056] ng/dL decrease	Affymetrix [2543887] (imputed)	N
935	chr15	45934868	45934869	rs607541	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q21.1	SQRDL	rs607541-C	0.464	8E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
935	chr15	45985070	45985071	rs12594515	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Weight	1,780 Filipino ancestry females	NA	15q21.1	SQRDL	rs12594515-C	0.69	5E-6		1.71	[0.98-2.44] kg increase	Affymetrix [2073674] (imputed)	N
935	chr15	45985070	45985071	rs12594515	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Waist circumference	1,779 Filipino ancestry females	NA	15q21.1	SQRDL	rs12594515-C	0.69	7E-6		1.73	[0.98-2.48] cm increase	Affymetrix [2073674] (imputed)	N
936	chr15	46078306	46078307	rs11633886	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q21.1	SQRDL, SEMA6D	rs11633886-C	0.467	5E-6		2.24	[1.57-3.19]	Illumina [1556551]	N
936	chr15	46122935	46122936	rs35053544	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	15q21.1	NR	rs35053544-C	0.076	6E-6		0.173	[0.099-0.247] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
936	chr15	46122935	46122936	rs35053544	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	15q21.1	NR	rs35053544-C	0.075	8E-7		0.189	[0.11-0.26] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
936	chr15	46132500	46132501	rs7182209	24954085	Della-Morte D	2014-06-14	J Neurol Sci	Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.	Carotid plaque burden (smoking interaction)	665 Hispanic individuals	264 Hispanic indivduals	15q21.1	SEMA6D, SQRDL	rs7182209-C	0.11	9E-6		0.5	[0.28-0.72] unit decrease	Affymetrix [722379]	N
937	chr15	46209026	46209027	rs12148088	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	15q21.1	intergenic	rs12148088-T		8E-6		92.15	[51.68-132.62] unit decrease	Affymetrix, Illumina [at least 646791] (imputed)	N
940	chr15	46569465	46569466	rs6493206	21130132	Mick E	2010-12-01	Prog Neuropsychopharmacol Biol Psychiatry	Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.	Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)	140 child cases	NA	15q21.1	intergenic	rs6493206-T	0.011	4E-6				Affymetrix [316934]	N
940	chr15	46639807	46639808	rs4775302	22130093	Nam RK	2011-12-01	Cancer Biol Ther	New variants at 10q26 and 15q21 are associated with aggressive prostate cancer in a genome-wide association study from a prostate biopsy screening cohort.	Prostate cancer	316 cases, 229 controls	55 Asian ancestry cases, 134 Asian ancestry controls, 1,382 European ancestry cases, 1,428 European ancestry controls, 184 Black cases, 127 Black controls, 42 cases, 87 controls	15q21.1	intergenic	rs4775302-?	NR	4E-8				Affymetrix [443816]	N
943	chr15	47029905	47029906	rs16958536	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	15q21.1	SEMA6D	rs16958536-?	0.22	4E-6	(Breast cancer, telangiectasia, multivariable analysis)	1.66		Illumina [2417493] (imputed)	N
948	chr15	47702441	47702442	rs188133	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	15q21.1	intergenic	rs188133-A	0.683	9E-6		0.021	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
950	chr15	47879626	47879627	rs12900158	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q21.1	SEMA6D	rs12900158-C	0.955	5E-6	(EA, men)	0.083	[0.047-0.118] kg/m2 increase	Affymetrix, Illumina [2550021]	N
950	chr15	47892297	47892298	rs1898111	22911880	Boraska V	2012-08-22	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.	Eating disorders	Up to 2,567 European ancestry individuals	Up to 767 European ancestry cases, up to 486  European ancestry controls	15q21.1	SEMA6D	rs1898111-A	0.837	8E-6	(OCPD)	1.15	[1.08-1.22]	Illumina [283744]	N
951	chr15	48005469	48005470	rs8028579	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	15q21.1	SEMA6D	rs8028579-T	0.11	7E-6	(AA)	0.3	[0.16-0.44] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
954	chr15	48392164	48392165	rs1834640	17999355	Stokowski RP	2007-10-15	Am J Hum Genet	A genomewide association study of skin pigmentation in a South Asian population.	Skin pigmentation	363 South Asian ancestry low maxL* individuals, 374 South Asian ancestry high maxL* individuals	116 South Asian ancestry low maxL* individuals, 115 South Asian ancestry high maxL* individuals	15q21.1	SLC24A5	rs1834640-G	0.08	1E-50		12.5	[8.33-20.0]	Perlegen [1502205]	N
954	chr15	48426483	48426484	rs1426654	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index	2,763 Bangladeshi ancestry females, 2,591 Bangladeshi ancestry males	NA	15q21.1	SLC24A5	rs1426654-A	0.511	4E-7	(females)	0.484	[0.30-0.67] kg/m2 increase	Illumina [1208102] (imputed)	N
954	chr15	48426483	48426484	rs1426654	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Body mass index	2,763 Bangladeshi ancestry females, 2,591 Bangladeshi ancestry males	NA	15q21.1	SLC24A5	rs1426654-A	0.51	8E-7		0.325	[0.20-0.45] kg/m2 increase	Illumina [1208102] (imputed)	N
955	chr15	48597513	48597514	rs964611	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	15q21.1	SLC12A1	rs964611-A		8E-6		0.15	[0.09-0.22] unit decrease	Affymetrix [~ 2500000] (imputed)	N
956	chr15	48633152	48633153	rs11637235	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	15q21.1	DUT	rs11637235-?	0.28	3E-6	(Adiponectin)			Illumina [496032]	N
958	chr15	48900585	48900586	rs1876206	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Breast cancer	58 cases, 665 controls	NA	15q21.1	FBN1	rs1876206-?	NR	6E-6				Affymetrix [70897]	N
958	chr15	48914774	48914775	rs1036476	21909107	Lemaire SA	2011-09-11	Nat Genet	Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.	Thoracic aortic aneurysms and dissections	765 European ancestry cases, 874 European ancestry controls	548 European ancestry cases, 626 European ancestry controls	15q21.1	FBN1	rs1036476-?	NR	6E-13		1.9	[NR]	Illumina [NR] (imputed)	N
958	chr15	48992896	48992897	rs2725544	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Insomnia	2,267 European ancestry individuals	NA	15q21.1	CEP152	rs2725544-C	0.23	2E-6		0.12	[0.061-0.179] unit decrease	Illumina [2380486] (imputed)	N
959	chr15	49039796	49039797	rs784411	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	15q21.1	CEP152	rs784411-?	NR	1E-7	(rs12418451)	1.42	[1.25-1.61]	Affymetrix, Illumina [1117531] (imputed)	N
959	chr15	49048127	49048128	rs16961557	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q21.1	CEP152	rs16961557-G	0.0090	5E-6	(Height )	0.03	[NR] cm increase	Illumina [899892]	N
960	chr15	49154717	49154718	rs142453246	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q21.1	NR	rs142453246-T	NR	9E-6		1.25	[NR]	Illumina [7158791] (imputed)	N
960	chr15	49192790	49192791	rs8023445	21621269	Aragam N	2011-05-26	J Affect Disord	Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.	Major depressive disorder	1,726 cases, 1,630 controls	NA	15q21.1	SHC4	rs8023445-?		2E-6				Perlegen [433556]	N
960	chr15	49221590	49221591	rs10519201	22911880	Boraska V	2012-08-22	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.	Eating disorders	Up to 2,567 European ancestry individuals	Up to 767 European ancestry cases, up to 486  European ancestry controls	15q21.1	SHC4	rs10519201-T	0.132	6E-6	(OCPD)	1.158	[1.09-1.23]	Illumina [283744]	N
964	chr15	49735296	49735297	rs4338740	21565293	Teumer A	2011-05-13	Am J Hum Genet	Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.	Thyroid volume	3,620 European ancestry individuals	1,290 European ancestry individuals	15q21.2	C15orf33, FGF7	rs4338740-T	0.738	1E-12	(thyroid volume)	0.067	[0.05-0.09] unit decrease	Affymetrix [2748910] (imputed)	N
964	chr15	49735296	49735297	rs4338740	21565293	Teumer A	2011-05-13	Am J Hum Genet	Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.	Thyroid volume	3,620 European ancestry individuals	1,290 European ancestry individuals	15q21.2	C15orf33, FGF7	rs4338740-C	0.261	3E-13	(goiter)	1.45	[1.32-1.59]	Affymetrix [2748910] (imputed)	N
964	chr15	49746363	49746364	rs10519227	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	15q21.2	FGF7	rs10519227-A	0.245	6E-10	(TSH - Males)	0.095	[0.066-0.124] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
964	chr15	49746363	49746364	rs10519227	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	15q21.2	FGF7	rs10519227-A	0.245	1E-11	(TSH)	0.072	[0.05-0.094] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
966	chr15	49939845	49939846	rs8039808	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	15q21.2	DTWD1	rs8039808-A	0.06	5E-7	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
969	chr15	50376438	50376439	rs11070747	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	15q21.2	ATP8B4, SLC27A2	rs11070747-C	0.31	6E-6	(ALL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
970	chr15	50477137	50477138	rs1365505	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	15q21.2	SLC27A2	rs1365505-T	0.68	4E-14	(10-undecenoate (11:1n1)/X-11438)	0.025	[0.019-0.031] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
972	chr15	50845017	50845018	rs3105593	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	15q21.2	USP50, TRPM7	rs3105593-T	0.446	3E-12		0.66	[0.46-0.86] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
973	chr15	50873343	50873344	rs2414059	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	15q21.2	NR	rs2414059-A	0.51	2E-6		1.24	[0.73-1.75] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
974	chr15	51040797	51040798	rs8035452	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	15q21.2	SPPL2A	rs8035452-T	0.661	3E-7		1.0753	[1.04-1.1]	Illumina [7055881] (imputed)	N
974	chr15	51048601	51048602	rs12915708	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	15q21.2	SPPL2A	rs12915708-C	0.3	7E-10	(EA)	0.007	[0.005-0.009] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
976	chr15	51352248	51352249	rs1124769	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	15q21.2	TNFAIP8L3	rs1124769-?	NR	9E-6	(TrailsA)			Illumina [up to 563855]	N
977	chr15	51436396	51436397	rs11070836	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	15q21.2	TNFAIP8L3, CYP19A1	rs11070836-?	NR	2E-6	(FEV1/FVC < 80%)	0.036	[NR] unit increase	Illumina [522636]	N
977	chr15	51436396	51436397	rs11070836	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	15q21.2	TNFAIP8L3	rs11070836-?	NR	8E-6		0.032	[NR] unit increase	Illumina [522636]	N
977	chr15	51436396	51436397	rs11070836	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	15q21.2	TNFAIP8L3	rs11070836-?	NR	3E-6	(Males only)	0.034	[NR] unit increase	Illumina [522636]	N
978	chr15	51513728	51513729	rs6493487	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	15q21.2	CYP19A1	rs6493487-G	0.09	8E-6	(AA-glucose response)	5.96	[3.35-8.57] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
978	chr15	51516054	51516055	rs2899472	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal AB1-42 levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	15q21.2	CYP19A1	rs2899472-A	NR	2E-9	(Controls)			Illumina [498205]	N
978	chr15	51524291	51524292	rs2414095	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Hormone measurements	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	15q21.2	CYP19A1	rs2414095-A	0.31	7E-31	(Oestradiol)	0.08	[0.060-0.100] unit decrease	Illumina [709211]	N
978	chr15	51524291	51524292	rs2414095	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Follicule stimulating hormone	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	15q21.2	CYP19A1	rs2414095-A	0.31	2E-16	(FSH)	0.11	[0.090-0.130] unit increase	Illumina [709211]	N
978	chr15	51530494	51530495	rs16964211	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	15q21.2	CYP19A1	rs16964211-A	0.051	1E-15		0.057	[0.043-0.071] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
978	chr15	51530494	51530495	rs16964211	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q21.2	CYP19A1	rs16964211-A	0.05	2E-9		0.05	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
978	chr15	51534546	51534547	rs727479	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Estradiol levels	1,583 European ancestry female individuals	NA	15q21.2	MIR4713, CYP19A1	rs727479-C	0.34	5E-7		0.107	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
978	chr15	51545453	51545454	rs12907866	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	15q21.2	CYP19A1	rs12907866-A	0.84	4E-7	(AA)	6.06	[3.71-8.41] unit increase	Affymetrix, Illumina [NR] (imputed)	N
978	chr15	51569409	51569410	rs2305707	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	15q21.2	CYP19A1	rs2305707-G	0.37	7E-7		0.06	[0.04-0.07] cm decrease	Illumina [420885]	N
978	chr15	51573532	51573533	rs3751599	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	15q21.2	CYP19A1	rs3751599-G	0.93	5E-10		0.187	[0.13-0.25] unit increase	Affymetrix [1532051] (imputed)	N
978	chr15	51599682	51599683	rs10519302	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	15q21.2	CYP19A1	rs10519302-A	0.68	3E-31		0.069	[0.057-0.081] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
978	chr15	51617707	51617708	rs2445762	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Hormone measurements	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	15q21.2	CYP19A1	rs2445762-C	0.28	8E-28	(Oestradiol)	0.11	[0.090-0.130] unit increase	Illumina [709211]	N
979	chr15	51653118	51653119	rs12148477	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Follicule stimulating hormone	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	15q21.2	NR		0.21	7E-7	(FSH)			Illumina [709211]	N
979	chr15	51748609	51748610	rs3736485	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q21.2	DMXL2	rs3736485-A	0.461	5E-8		0.016	[0.01-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
979	chr15	51748609	51748610	rs3736485	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q21.2	DMXL2	rs3736485-A	0.454	7E-9	(EA)	0.018	[0.012-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
979	chr15	51748609	51748610	rs3736485	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q21.2	DMXL2	rs3736485-A	0.454	3E-6	(EA, women)	0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
981	chr15	51969667	51969668	rs17525472	20159242	Li X	2010-02-01	J Allergy Clin Immunol	Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.	Asthma	607 European ancestry cases, 3,294 European ancestry controls	NA	15q21.2	SCG3	rs17525472-?	NR	2E-6				Illumina [292443]	N
985	chr15	52504035	52504036	rs17650440	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	15q21.2	MYO5C	rs17650440-?		6E-6	(SG)	2.09	[1.23-2.95] unit increase	Illumina [693128]	N
987	chr15	52773022	52773023	rs2222656	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	15q21.2	MYO5A	rs2222656-A		2E-6		0.12	[0.07-0.17] unit decrease	Affymetrix [~ 2500000] (imputed)	N
988	chr15	52886961	52886962	rs4776059	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q21.2	NR	rs4776059-T	NR	4E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
988	chr15	52922889	52922890	rs12595161	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	15q21.3	KIAA1370	rs12595161-A	0.0511	5E-6	(Ordinal II)	0.4178	[0.24-0.6] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
990	chr15	53203300	53203301	rs2414208	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q21.3	RPSAP55, EEF1A1P22	rs2414208-G	0.0040	2E-6	(BMR RQ)	0.03	[NR] unit increase	Illumina [899892]	N
991	chr15	53279377	53279378	rs719714	22126837	LeBlanc M	2011-11-28	J Psychiatr Res	Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function.	Cognitive function	190 European ancestry schizophrenia cases, 157 European ancestry  bipolar disorder cases, 353 European ancestry controls	NA	15q21.3	WDR72	rs719714-?	NR	4E-8		9.45	[6.10-12.80] unit increase	Affymetrix [550291]	N
992	chr15	53464219	53464220	rs2174866	25705159	Hong Y	2014-12-31	Genomics Inform	Genome-wide association study of hepatitis in korean populations.	Hepatitis	1,500 Korean ancestry cases, 1,500 Korean ancestry controls	NA	15q21.3	intergenic	rs2174866-T	NR	9E-7		1.19	[NR]	NR [352000]	N
995	chr15	53805824	53805825	rs7168365	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	15q21.3	WDR72	rs7168365-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
996	chr15	53907947	53907948	rs17730281	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	15q21.3	WDR72	rs17730281-G	0.58	3E-11		0.0051	[0.0035-0.0067] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
996	chr15	53940306	53940307	rs10518733	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	15q21.3	WDR72	rs10518733-C	0.4	2E-8	(sCr)	0.068	[0.044-0.092] unit decrease	Illumina [561583]	N
996	chr15	53942927	53942928	rs17730436	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	15q21.3	WDR72	rs17730436-T	0.60	1E-13		0.005	[0.0036-0.0064] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
996	chr15	53942927	53942928	rs17730436	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	15q21.3	WDR72	rs17730436-T	0.60	6E-13		0.0055	[0.0039-0.0071] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
996	chr15	53946592	53946593	rs491567	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	15q21.3	WDR72	rs491567-C	0.22	3E-13	(eGFRcrea)	0.01	[0.005-0.013] ml/min/1.73 m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
999	chr15	54295191	54295192	rs144442299	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	15q21.3	UNC13C	rs144442299-T	NR	8E-7	(Perc15, All)	5.4	[-0.284-11.084] unit decrease	Illumina [7600000] (imputed)	N
999	chr15	54341464	54341465	rs1897031	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	15q21.3	UNC13C	rs1897031-?	0.1753	1E-6	(PRM)			Illumina [475971]	N
999	chr15	54380199	54380200	rs11071033	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	15q21.3	UNC13C	rs11071033-T	0.71	3E-6	(AA)	4.49	[2.61-6.37] unit increase	Affymetrix, Illumina [NR] (imputed)	N
999	chr15	54380199	54380200	rs11071033	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	15q21.3	UNC13C	rs11071033-T	0.41	7E-6	(EA)	1.134	[0.42-1.85] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1002	chr15	54680631	54680632	rs10518765	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	15q21.3	intergenic	rs10518765-?	NR	1E-6	(AlkPhos)			Affymetrix [70897]	N
1002	chr15	54715641	54715642	rs73419609	26114229	Ashley-Koch AE	2015-06-12	J Affect Disord	Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.	Post-traumatic stress disorder	949 non-Hispanic black individuals, 759 European ancestry individuals	NA	15q21.3	UNC13C	rs73419609-?	NR	6E-6	AA	2.22	[NR]	Illumina [up to 5616481] (imputed)	N
1003	chr15	54868667	54868668	rs2553218	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	15q21.3	UNC13C	rs2553218-?		8E-7	(Hispanic)			Illumina [NR]	N
1006	chr15	55226569	55226570	rs12438945	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	15q21.3	intergenic	rs12438945-?		4E-6	(M)	21.63	[12.63-30.63] unit increase	Illumina [693128]	N
1007	chr15	55386742	55386743	rs1528473	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	15q21.3	RP11-548M13.1	rs1528473-?	NR	3E-7	(Shared)			Affymetrix, Illumina [~ 5200000]	N
1008	chr15	55456509	55456510	rs16976033	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	15q21.3	RSL24D1	rs16976033-?	NR	7E-6				Illumina [874956]	N
1008	chr15	55534341	55534342	rs2444043	25431337	Bouzigon E	2014-11-27	Clin Exp Allergy	A Common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults.	Fractional exhaled nitric oxide levels	610 European ancestry adult individuals, 601 Hutterite adult individuals	450 Talana adult individuals, 8,858 European ancestry children	15q21.3	RAB27A	rs2444043-T	0.5	2E-7	(adults)	5.24	[NR] Z score increase	Affymetrix, Illumina [247463] (imputed)	N
1011	chr15	55950081	55950082	rs11071200	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	261 Japanese ancestry cases, 262 Japanese ancestry controls	NA	15q21.3	PRTG	rs11071200-T	0.008	9E-7	(Dominant model)	8.241	[2.888-23.520]	Illumina [733202]	N
1013	chr15	56194876	56194877	rs8032158	20711176	Nakashima M	2010-08-15	Nat Genet	A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.	Keloid	178 Japanese ancestry cases, 906 Japanese ancestry controls	621 Japanese ancestry cases, 2,271 Japanese ancestry controls	15q21.3	NEDD4	rs8032158-C	0.36	6E-13		1.51	[1.35-1.69]	Illumina [452038]	N
1013	chr15	56210928	56210929	rs17819300	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		15q21.3	NEDD4	rs17819300-?	NR	1E-10	(Strength - R-banks of the superior temporal sulcus)			Illumina [428287]	N
1015	chr15	56382294	56382295	rs16976734	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	15q21.3	NEDD4, RFX7	rs16976734-G	0.11	4E-7		1.36	[NR]	Illumina [450000] (imputed)	N
1016	chr15	56504597	56504598	rs8030605	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q21.3	RFX7	rs8030605-A	0.1483	2E-9		0.0305	[0.021-0.04] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1016	chr15	56504597	56504598	rs8030605	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q21.3	RFX7	rs8030605-A	0.1482	4E-6	(women)	0.0313	[0.018-0.045] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1016	chr15	56504597	56504598	rs8030605	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q21.3	RFX7	rs8030605-A	0.1415	9E-9	(EA)	0.0304	[0.02-0.041] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1017	chr15	56695744	56695745	rs144803255	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	15q21.3	RFX7, TEX9, MNS1	rs144803255-A	0.0241	9E-7		4.1709	[3.60-4.74]	Illumina [8809853] (imputed)	N
1017	chr15	56736477	56736478	rs6493858	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	15q21.3	TEX9, MNS1	rs6493858-?	0.41	4E-6		0.25	[0.14-0.35] unit increase	Illumina [2095209]	N
1018	chr15	56775596	56775597	rs11636802	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	15q21.3	MNS1, RFXDC2	rs11636802-G	0.11	2E-13		1.41	[NR]	Illumina [549934]	N
1025	chr15	57762792	57762793	rs2934442	21305692	Belmonte Mahon P	2011-02-08	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder.	Bipolar disorder (age of onset and psychotic symptoms)	2,836 European ancestry cases, 2,744 European ancestry controls	3,916 European cases, 5,112 controls	15q21.3	CGNL1	rs2934442-?	NR	1E-6	(age of onset)	1.022	[NR] unit decrease	Affymetrix, Illumina [2373895] (imputed)	N
1026	chr15	57910163	57910164	rs937254	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	15q21.3	GCOM1	rs937254-A	0.57	7E-7		0.077	[0.047-0.107] unit increase	Affymetrix [~ 2740000] (imputed)	N
1027	chr15	58009758	58009759	rs1808478	25562672	Byrne EM	2014-12-09	J Clin Psychiatry	Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.	Seasonality	3,269 European ancestry individuals	887 Old order Amish individuals	15q21.3	GCOM2, POLR2M	rs1808478-T	NR	5E-6		0.59	[0.34-0.84] unit decrease	Affymetrix, Illumina [2354422] (imputed)	N
1027	chr15	58033858	58033859	rs487836	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q21.3	GRINL1A, ALDH1A2	rs487836-G	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
1028	chr15	58080616	58080617	rs1559777	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		15q21.3	intergenic	rs1559777-?	0.2	1E-6			[NR]	Affymetrix, Illumina [152234]	N
1028	chr15	58082366	58082367	rs566767	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q21.3	GRINL1A, ALDH1A2	rs566767-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1029	chr15	58213413	58213414	rs1550576	19609347	Adeyemo A	2009-07-17	PLoS Genet	A genome-wide association study of hypertension and blood pressure in African Americans.	Hypertension	509 African American cases, 508 African American controls	366 West African ancestry cases, 614 West African ancestry controls	15q21.3	ALDH1A2	rs1550576-?	0.86	3E-6		1.92	[NR]	Affymetrix [808465]	N
1029	chr15	58246801	58246802	rs3204689	24728293	Styrkarsdottir U	2014-04-13	Nat Genet	Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.	Osteoarthritis (hand, severe)	623 European ancestry cases, 69,153 European ancestry controls	214 European ancestry cases, 8,172 European ancestry controls	15q21.3	ALDH1A2	rs3204689-C	0.52	1E-11		1.46	[1.31-1.63]	Illumina [34200000] (imputed)	N
1029	chr15	58253105	58253106	rs3784262	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	15q21.3	NR	rs3784262-A	0.54	7E-7		1.1364	[1.09-1.2]	Illumina [922031]	N
1029	chr15	58253105	58253106	rs3784262	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Barrett's esophagus	2,416 European ancestry cases, 3,206 European ancestry controls	759 European ancestry cases, 6,911 European ancestry controls	15q21.3	NR	rs3784262-A	0.54	4E-7		1.1765	[1.11-1.25]	Illumina [922031]	N
1031	chr15	58471978	58471979	rs16939881	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	15q21.3	AQP9	rs16939881-?	0.05	3E-27				Illumina [~ 2000000] (imputed)	N
1031	chr15	58551693	58551694	rs4471613	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	15q21.3	ALDH1A2, AQP9, LIPC	rs4471613-A	0.02	4E-8	(cohort study)	2.26	[1.69-3.03]	Affymetrix, Illumina [up to 2600000] (imputed)	N
1031	chr15	58551693	58551694	rs4471613	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	15q21.3	ALDH1A2, AQP9, LIPC	rs4471613-A	0.02	4E-8		0.82	[0.53-1.11] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
1031	chr15	58551693	58551694	rs4471613	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Ischemic stroke	up to 1,365 African American cases, up to 13,154 African American controls	European ancestry individuals (see Traylor, 2012)	15q21.3	ALDH1A2, AQP9, LIPC	rs4471613-A	0.02	5E-7	(cohort study, AA)	2.47	[1.74-3.50]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1031	chr15	58551693	58551694	rs4471613	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Ischemic stroke	up to 1,365 African American cases, up to 13,154 African American controls	European ancestry individuals (see Traylor, 2012)	15q21.3	ALDH1A2, AQP9, LIPC	rs4471613-A	0.02	5E-7	(AA)	0.9	[0.55-1.25] unit increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1032	chr15	58635582	58635583	rs4775031	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	15q21.3	LIPC	rs4775031-?	NR	2E-6	(TrailsB)			Illumina [up to 563855]	N
1032	chr15	58671764	58671765	rs1601935	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	15q21.3	LIPC	rs1601935-G	0.36	8E-21		0.059	[0.047-0.071] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1032	chr15	58674668	58674669	rs539901	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	15q21.3	LIPC	rs539901-G	0.109	8E-6	(Additive model)			Affymetrix [271817]	N
1032	chr15	58674694	58674695	rs4775041	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	15q21.3	LIPC	rs4775041-?	0.28	1E-7	(PE)			Affymetrix [187454]	N
1032	chr15	58674694	58674695	rs4775041	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	Triglycerides	8,684 European ancestry individuals	9,741 European ancestry individuals	15q21.3	LIPC	rs4775041-C	0.33	2E-8		3.62	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1032	chr15	58674694	58674695	rs4775041	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	15q21.3	LIPC	rs4775041-C	0.33	3E-20		1.38	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1032	chr15	58678511	58678512	rs10468017	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	15q21.3	LIPC	rs10468017-T	0.29	3E-12	(1-palmitoylglycerophosphoethanolamine)	0.019	[0.013-0.025] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1032	chr15	58678511	58678512	rs10468017	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	15q21.3	LIPC	rs10468017-?	NR	7E-43	(levels)	0.0	[0.80-4.70] % increase	Illumina [NR] (imputed)	N
1032	chr15	58678511	58678512	rs10468017	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	15q21.3	LIPC	rs10468017-T	0.33	3E-12	(HDL)	0.104	[0.075-0.133] mmol/l increase	Illumina [NR] (imputed)	N
1032	chr15	58678511	58678512	rs10468017	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	15q21.3	LIPC	rs10468017-?	0.71	3E-12		1.19	[NR]	Affymetrix [6036699] (imputed)	N
1032	chr15	58678511	58678512	rs10468017	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	15q21.3	LIPC	rs10468017-C	NR	6E-8	(HDLC-WC)	0.16	[0.10-0.22] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1032	chr15	58678511	58678512	rs10468017	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	15q21.3	LIPC	rs10468017-?	0.70	1E-8		1.22	[1.14-1.30]	Affymetrix [632932]	N
1032	chr15	58678511	58678512	rs10468017	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	15q21.3	LIPC	rs10468017-T	0.30	8E-23		0.1	[0.06-0.14] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1032	chr15	58680177	58680178	rs261291	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	15q21.3	LIPC	rs261291-C	0.37	6E-87		0.122	[0.11-0.13] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1032	chr15	58680642	58680643	rs35853021	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	15q21.3	LIPC	rs35853021-?	NR	7E-76	(XL-HDL-TG)	0.31	[0.27-0.35] unit increase	Illumina [~ 7700000] (imputed)	N
1032	chr15	58680953	58680954	rs2043085	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	15q21.3	LIPC	rs2043085-T	0.47	2E-8	(HDL)	0.012	[0.00024-0.02376] mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
1032	chr15	58680953	58680954	rs2043085	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	15q21.3	LIPC	rs2043085-A	NR	1E-8	(HDLC-GLUC)	0.17	[0.11-0.23] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	15q21.3	LIPC	rs1532085-A	0.40	2E-18		0.031	[NR] mg/dL increase	NR [NR] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	15q21.3	LIPC	rs1532085-A	0.4	1E-188		0.107	[NR] unit increase	NR [NR] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	15q21.3	LIPC	rs1532085-A	0.40	7E-47		0.054	[NR] unit increase	NR [NR] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	15q21.3	LIPC	rs1532085-G	0.59	7E-11	(Hgb)	0.034	[0.022-0.046] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	15q21.3	LIPC	rs1532085-?	0.44	9E-104				Illumina [~ 2000000] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	15q21.3	LIPC	rs1532085-G	0.57	5E-24	(HDL)	0.13	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	15q21.3	LIPC	rs1532085-G	0.22	2E-13		2.99	[2.11-3.87] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	15q21.3	LIPC	rs1532085-A	0.39	3E-96		1.45	[1.29-1.61] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	15q21.3	LIPC	rs1532085-A	0.39	9E-20		1.54	[1.15-1.93] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1032	chr15	58683365	58683366	rs1532085	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	15q21.3	LIPC	rs1532085-?	NR	9E-15	(HDL-C.assay, fasting)	1.421	[NR] unit increase	Illumina [335603]	N
1032	chr15	58683365	58683366	rs1532085	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	15q21.3	LIPC	rs1532085-?	NR	4E-16	(IDL.total, fasting)	0.112	[NR] unit increase	Illumina [335603]	N
1032	chr15	58683365	58683366	rs1532085	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	15q21.3	LIPC	rs1532085-?	NR	1E-19	(IDL.total, whole)	0.107	[NR] unit increase	Illumina [335603]	N
1032	chr15	58683365	58683366	rs1532085	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	15q21.3	LIPC	rs1532085-G	0.59	1E-35		0.13	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1032	chr15	58683365	58683366	rs1532085	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	15q21.3	LIPC	rs1532085-G	0.59	4E-7		0.05	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1032	chr15	58683365	58683366	rs1532085	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	HDL cholesterol	4,763 Northern Finnish founder individuals	NA	15q21.3	LIPC	rs1532085-A	0.44	2E-10		0.05	[0.03-0.06] mmol/l increase	Illumina [329091]	N
1032	chr15	58687879	58687880	rs493258	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	15q21.3	intergenic	rs493258-C	0.55	2E-8		1.16	[1.10-1.22]	Affymetrix [632932]	N
1032	chr15	58688466	58688467	rs920915	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	15q21.3	LIPC	rs920915-C	0.48	3E-11		1.13	[1.09-1.17]	Affymetrix, Illumina [2442884] (imputed)	N
1032	chr15	58694019	58694020	rs16940212	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	HDL cholesterol	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	15q21.3	intergenic	rs16940212-T	0.34	1E-24		0.0222	[0.018-0.027] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
1032	chr15	58712202	58712203	rs11857380	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q21.3	LIPC	rs11857380-C	0.131	3E-6	(Weight )	0.03	[NR] kg increase	Illumina [899892]	N
1033	chr15	58723425	58723426	rs1077835	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	15q21.3	LIPC	rs1077835-G	0.22	2E-14		0.059	[0.043-0.075] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1033	chr15	58723425	58723426	rs1077835	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	HDL cholesterol	1,122 Mexican ancestry hypertriglyceridemia cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry hypertriglyceridemia cases, 1,054 Mexican ancestry controls	15q21.3	LIPC	rs1077835-A	0.38	2E-14		0.17	[0.13-0.21] unit decrease	Illumina [1361436] (imputed)	N
1033	chr15	58723478	58723479	rs1077834	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	15q21.3	LIPC	rs1077834-T	0.49	1E-14	(HDL)	0.14	[0.1-0.18] unit decrease	Illumina [561583]	N
1033	chr15	58723674	58723675	rs1800588	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	HDL cholesterol	2,758 individuals	18,544 individuals	15q21.3	LIPC	rs1800588-T	0.21	2E-32		0.14	[0.12-0.16] percentage SD increase	Affymetrix [389878]	N
1033	chr15	58723938	58723939	rs2070895	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	15q21.3	LIPC	rs2070895-A	0.21	1E-18	(1-palmitoylglycerophosphoethanolamine)	0.03	[0.024-0.036] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1033	chr15	58724791	58724792	rs8034802	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	15q21.3	LIPC	rs8034802-A	0.362	1E-9		0.104	[0.071-0.137] unit increase	Affymetrix [~ 2740000] (imputed)	N
1033	chr15	58726743	58726744	rs261334	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	15q21.3	LIPC	rs261334-G	0.20	5E-22		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1033	chr15	58730497	58730498	rs588136	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	15q21.3	LIPC	rs588136-T	0.8	8E-12	(1-stearoylglycerophosphoethanolamine)	0.029	[0.021-0.037] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1033	chr15	58730497	58730498	rs588136	24023260	Wu Y	2013-09-10	J Lipid Res	Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.	Lipid traits	1,782 Filipino ancestry mothers	1,719 Filipino ancestry offsprings	15q21.3	LIPC	rs588136-?	0.69	2E-12	(HDL-C)	0.05	[0.030-0.070] unit decrease	Affymetrix [~ 3700000] (imputed)	N
1033	chr15	58730638	58730639	rs17301739	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		15q21.3	LIPC	rs17301739-?	0.07	2E-6		0.28	unit decrease	Illumina [NR] (imputed)	N
1033	chr15	58731152	58731153	rs261342	23281178	Hong MG	2013-03-01	Hum Mutat	A genome-wide assessment of variability in human serum metabolism.	Metabolite levels	214 European ancestry prostate cancer cases, 188 European ancestry controls	489 European ancestry prostate cancer cases	15q21.3	LIPC	rs261342-C	NR	9E-13	(Glycerophospho-N-Palmitoyl Ethanolamine)			Affymetrix [333722]	N
1033	chr15	58738422	58738423	rs12914626	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q21.3	NR	rs12914626-C	NR	10E-7		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1033	chr15	58746829	58746830	rs3825776	18084291	van Es MA	2007-12-16	Nat Genet	Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	737 European ancestry cases, 721 European ancestry controls	1,030 European ancestry cases, 1,195 European ancestry controls	15q21.3	LIPC	rs3825776-?	0.29	9E-6		1.34	[1.20-1.46]	Illumina [311946]	N
1033	chr15	58838009	58838010	rs6083	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	15q21.3	LIPC	rs6083-A	NR	5E-6		1.29	[NR]	Illumina [up to 9792010] (imputed)	N
1036	chr15	59141705	59141706	rs793571	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q22.1	NR	rs793571-A	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
1036	chr15	59174538	59174539	rs7179456	21182207	Salyakina D	2010-12-01	Autism Res	Variants in several genomic regions associated with asperger disorder.	Asperger disorder	848 individuals from 232 families	NA	15q22.1	RNF111, SLTM	rs7179456-?	0.39	7E-6				Illumina [439282] (imputed)	N
1037	chr15	59293604	59293605	rs1665050	25865352	Schaarschmidt H	2015-04-10	J Allergy Clin Immunol	A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.	Atopic dermatitis	870 European ancestry cases, 5,293 European ancestry controls	1,383  European ancestry cases, 1,728 European ancestry controls	15q22.2	RNF111	rs1665050-A	0.252	1E-7		1.25	[NR]	Affymetrix [1623390] (imputed)	N
1038	chr15	59428657	59428658	rs4218	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	15q22.2	RNF111, MYO1E	rs4218-G	0.29	1E-7		0.1	[0.063-0.137] unit increase	Illumina [~ 2500000] (imputed)	N
1038	chr15	59487929	59487930	rs2306786	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	15q22.2	RNF111, MYO1E, CCNB2	rs2306786-?	0.17	1E-10				Illumina [~ 2000000] (imputed)	N
1040	chr15	59711690	59711691	rs10519005	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	15q22.2	NR	rs10519005-T	0.46	5E-6		1.26	[1.16-1.36]	Illumina [4058415] (imputed)	N
1040	chr15	59719168	59719169	rs28890483	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	15q22.2	NR	rs28890483-?	NR	9E-6		1.3904	[NR]	Affymetrix [722112]	N
1041	chr15	59824986	59824987	rs17302400	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	15q22.2	FAM81A	rs17302400-T	0.13	7E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1045	chr15	60368205	60368206	rs335810	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	15q22.2	ANXA2	rs335810-A	0.69	7E-6	(AA)	1.1	[1.06-1.15]	Affymetrix, Illumina [2579389] (imputed)	N
1045	chr15	60368205	60368206	rs335810	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	15q22.2	ANXA2	rs335810-A	0.69	7E-6		1.1	[1.06-1.15]	Affymetrix, Illumina [2579389] (imputed)	N
1048	chr15	60687250	60687251	rs16942556	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	15q22.2	NR	rs16942556-?	NR	3E-6	(Native Hawaiian)	1.1184	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1048	chr15	60781512	60781513	rs3743266	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	15q22.2	RORA	rs3743266-T	0.68	2E-13		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1048	chr15	60781512	60781513	rs3743266	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	15q22.2	RORA	rs3743266-C	0.32	8E-7		2.0	[1.22-2.78] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1049	chr15	60878029	60878030	rs340005	22010049	Middelberg RP	2011-11-01	Hum Mol Genet	Loci affecting gamma-glutamyl transferase in adults and adolescents show age &#x000d7; SNP interaction and cardiometabolic disease associations.	Gamma gluatamyl transferase levels	12,526 European ancestry individuals	NA	15q22.2	RORA	rs340005-G	0.36	2E-8		0.084	[0.055-0.113] unit decrease	Illumina [2380486] (imputed)	N
1049	chr15	60883280	60883281	rs339969	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	15q22.2	RORA	rs339969-A	0.62	7E-20		4.5	[3.90-5.10] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1049	chr15	60894964	60894965	rs340029	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	15q22.2	RORA	rs340029-T	NR	4E-9		0.032	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1049	chr15	60900962	60900963	rs980000	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	15q22.2	RORA	rs980000-T	0.26	2E-6	(AA)	4.69	[2.75-6.63] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1049	chr15	60910549	60910550	rs3784609	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Total ventricular volume (Alzheimer's disease interaction)	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	15q22.2	RORA	rs3784609-?	NR	3E-6		0.005	[NR] unit decrease	Illumina [478011]	N
1049	chr15	60937401	60937402	rs339978	23599027	Demerath EW	2013-04-17	Hum Mol Genet	Genome-wide association study of age at menarche in African-American women.	Menarche (age at onset)	18,089 African American individuals	2,850 African American individuals, 87,802 European ancestry inidividuals	15q22.2	RORA	rs339978-T	0.2	2E-6	(AA)	5.31	[3.13-7.49] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1050	chr15	61060706	61060707	rs12591650	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	15q22.2	RORA	rs12591650-A	0.85	7E-7	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1050	chr15	61069987	61069988	rs11071559	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	15q22.2	RORA	rs11071559-C	0.86	1E-7		1.18	[1.11-1.25]	Illumina [582892]	N
1051	chr15	61164198	61164199	rs1902618	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	15q22.2	RORA	rs1902618-?	NR	2E-6	(FEV1 decline in asthmatics)	0.2202	[0.13-0.31] unit decrease	Illumina [~ 2500000] (imputed)	N
1052	chr15	61267095	61267096	rs12912233	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	15q22.2	RORA	rs12912233-T	0.46	6E-7		0.15	[NR] unit increase	Affymetrix, Illumina [up to 2500000] (imputed)	N
1052	chr15	61329787	61329788	rs809736	19846067	Garriock HA	2009-10-19	Biol Psychiatry	A genomewide association study of citalopram response in major depressive disorder.	Response to citalopram treatment	Up to 659 European ancestry responders, up to 121 African American responders, up to 103 Hispanic responders, 408 European ancestry non-responders, 120 African American non-responders, 80 Hispanic non-responders	NA	15q22.2	RORA	rs809736-?	0.17	8E-6	(response)	1.52	[1.27-1.83]	Affymetrix [430198]	N
1052	chr15	61336441	61336442	rs7172342	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	15q22.2	RORA	rs7172342-?	NR	4E-6	(Negative/disorganized symptoms)	0.0795	[NR] unit decrease	Affymetrix [696491]	N
1055	chr15	61702778	61702779	rs3884558	23319801	Rafiq S	2013-01-14	Cancer Res	Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.	Breast cancer (prognosis)	536 European ancestry early-onset cases	1,516 European ancestry early-onset cases	15q22.2	RORa	rs3884558-?	0.07	4E-6		1.46	[1.24-1.72]	Illumina [487496]	N
1055	chr15	61702778	61702779	rs3884558	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	15q22.2	intergenic	rs3884558-?	NR	5E-6	(SF10)			Affymetrix [5476100] (imputed)	N
1056	chr15	61840102	61840103	rs4775413	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	15q22.2	NR	rs4775413-?	NR	2E-6		1.08	[1.04-1.11]	Affymetrix, Illumina [1252901] (imputed)	N
1056	chr15	61854662	61854663	rs12903146	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q22.2	NR	rs12903146-A	NR	4E-10		1.07	[NR]	Illumina [7158791] (imputed)	N
1056	chr15	61854662	61854663	rs12903146	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	15q22.2	VPS14C	rs12903146-A	0.52	3E-10		1.067	[1.046-1.089]	Affymetrix, Illumina [9005918] (imputed)	N
1057	chr15	61870942	61870943	rs12592967	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Schizophrenia	2,111 European ancestry cases, 2,535 European ancestry controls	11,271 European ancestry cases, 14,601 European ancestry controls	15q22.2	intergenic	rs12592967-?	NR	3E-7		1.1	[NR]	Affymetrix [745006]	N
1057	chr15	61994133	61994134	rs2414739	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	15q22.2	VPS13C	rs2414739-A	0.734	1E-11		1.113	[1.08-1.14]	Illumina [7893274] (imputed)	N
1058	chr15	62001131	62001132	rs10519131	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	15q22.2	intergenic	rs10519131-?	NR	1E-6		1.22	[NR]	Illumina [2500000] (imputed)	N
1060	chr15	62312839	62312840	rs4143844	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	15q22.2	NR	rs4143844-?	NR	4E-6		1.4298	[NR]	Affymetrix [722112]	N
1060	chr15	62332979	62332980	rs17271305	20081857	Saxena R	2010-01-17	Nat Genet	Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.	Two-hour glucose challenge	15,234 individuals	up to 30,620 European ancestry individuals	15q22.2	VPS13C	rs17271305-G	NR	1E-7		0.06	[0.04-0.08 mmol/L increase	Affymetrix, Illumina [NR]	N
1060	chr15	62338796	62338797	rs1436958	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q22.2	NR	rs1436958-G	0.57353197705803	9E-6	(IGP2)	0.1389	[0.078-0.2] unit increase	Illumina [~ 2500000] (imputed)	N
1060	chr15	62380258	62380259	rs7178424	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q22.2	C2CD4A	rs7178424-T	0.47	6E-9		0.021	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1060	chr15	62383154	62383155	rs4502156	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	15q22.2	C2CD4B, C2CD4A, VPS13C	rs4502156-T	0.58	4E-20				Affymetrix, Illumina [~ 2500000] (imputed)	N
1061	chr15	62391607	62391608	rs7163757	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	15q22.2	C2CD4A	rs7163757-C	0.56	4E-6		1.06	[1.02-1.11]	Affymetrix, Illumina [2500000] (imputed)	N
1061	chr15	62396388	62396389	rs7172432	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	15q22.2	C2CD4B, C2CD4A	rs7172432-A	0.57	1E-6		1.11	[1.07-1.16]	Illumina [6209637] (imputed)	N
1061	chr15	62396388	62396389	rs7172432	20818381	Yamauchi T	2010-09-05	Nat Genet	A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.	Type 2 diabetes	4,470 Japanese ancestry cases, 3,071 Japanese ancestry controls	10,692 Japanese ancestry cases, 9,597 Japanese ancestry controls, 6,980 European ancestry cases, 8,615 European ancestry controls	15q22.2	C2CD4B, C2CD4A	rs7172432-?	0.58	9E-14		1.11	[1.08-1.14]	Illumina [459359]	N
1061	chr15	62396941	62396942	rs7173964	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	15q22.2	VPS13C	rs7173964-?	NR	6E-12				Affymetrix, Illumina [~ 2400000] (imputed)	N
1061	chr15	62404381	62404382	rs1436955	20862305	Shu XO	2010-09-16	PLoS Genet	Identification of new genetic risk variants for type 2 diabetes.	Type 2 diabetes	1,019 Chinese ancestry cases, 1,710 Chinese ancestry controls	2,591 European ancestry cases, 3,052 European ancestry controls, 6,184 East Asian cases, 9,853 East Asian controls	15q22.2	C2CD4B	rs1436955-C	0.73	7E-7		1.13	[1.08-1.19]	Affymetrix [590887]	N
1061	chr15	62414013	62414014	rs1436953	21799836	Cui B	2011-07-22	PLoS One	A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.	Type 2 diabetes	793 Han Chinese ancestry cases, 806 Han Chinese ancestry controls	4,445 Han Chinese ancestry cases, 4,458 Han Chinese ancestry controls	15q22.2	C2CD4B, C2CD4A	rs1436953-G	0.64	8E-6		1.14	[NR]	Illumina [474515]	N
1061	chr15	62433961	62433962	rs11071657	20081858	Dupuis J	2010-01-17	Nat Genet	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.	Fasting glucose-related traits	up to 46,186 European ancestry individuals	up to 76,558 European ancestry individuals	15q22.2	C2CD4B	rs11071657-A	0.63	4E-8	(FPG)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1063	chr15	62687338	62687339	rs2456930	20197096	Stein JL	2010-03-01	Neuroimage	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.	Brain structure (temporal lobe volume)	173 European ancestry Alzheimer's disease cases, 361 European ancestry Mild Cognitive Impairment cases, 208 European ancestry controls	NA	15q22.2	intergenic	rs2456930-G	0.38	3E-7		3843.9	[NR] unit increase	Illumina [546314]	N
1064	chr15	62899159	62899160	rs12913538	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep depth	2,314 European ancestry individuals	NA	15q22.2	intergenic	rs12913538-A	0.37	7E-6		0.1	[0.061-0.139] unit increase	Illumina [2380486] (imputed)	N
1067	chr15	63290644	63290645	rs12595433	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q22.2	LOC100287243	rs12595433-A	0.464	5E-6	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1068	chr15	63312631	63312632	rs1873147	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	15q22.2	TPM1	rs1873147-C	NR	8E-7	(Meta-All, NSCL/P)	1.431	[1.23-1.666]	NR [497084]	N
1068	chr15	63333723	63333724	rs3809566	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	15q22.2	TPM1	rs3809566-G	NR	4E-10		2.443	[1.68-3.21] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1068	chr15	63341995	63341996	rs11071720	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	15q22.2	TPM1	rs11071720-T	NR	2E-8		0.01	[0.007-0.015] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
1068	chr15	63396866	63396867	rs2652834	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	15q22.2	LACTB	rs2652834-A	0.21	4E-11		0.028	[NR] unit decrease	NR [NR] (imputed)	N
1068	chr15	63396866	63396867	rs2652834	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	15q22.2	LACTB	rs2652834-A	0.2	9E-9		0.39	[0.19-0.59] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1068	chr15	63422771	63422772	rs2652822	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	15q22.2	LACTB	rs2652822-C	0.467	7E-27	(succinylcarnitine)	0.085	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1068	chr15	63423738	63423739	rs1472631	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	15q22.2	LACTB	rs1472631-A	0.49	2E-88	(succinylcarnitine)	0.037	[0.033-0.041] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1069	chr15	63467886	63467887	rs17828380	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	15q22.2	RAB8B	rs17828380-C	0.11	5E-6	(Age 8)	0.18	[0.1-0.26] unit increase	Illumina [2293137] (imputed)	N
1069	chr15	63540571	63540572	rs1986112	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q22.2	NR	rs1986112-A	NR	2E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1071	chr15	63737924	63737925	rs10519210	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	15q22.31	USP3	rs10519210-?	0.03	1E-8	(EA)	1.53	[1.05-2.24]	Affymetrix, Illumina [2478304] (imputed)	N
1072	chr15	63891960	63891961	rs57017013	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	15q22.31	NR	rs57017013-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1072	chr15	63915785	63915786	rs11630290	21835309	Larsson M	2011-08-12	Am J Hum Genet	GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.	Iris characteristics	2,121 European ancestry individuals	499 European ancestry adolescent twins and siblings, 73 European ancestry adult individuals	15q22.31	HERC1	rs11630290-C		1E-6	(Iris Nevi)	0.09	[0.05-0.13] unit increase	Illumina [274604] (imputed)	N
1078	chr15	64725489	64725490	rs74615166	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	15q22.31	TRIP4	rs74615166-C	0.02	4E-7		1.29	[1.17-1.42]	Illumina [7055881] (imputed)	N
1082	chr15	65153689	65153690	rs12595292	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	15q22.31	PLEKHO2	rs12595292-A	0.12	9E-6		0.1065	[0.06-0.153] unit increase	Affymetrix [~ 2740000] (imputed)	N
1082	chr15	65183800	65183801	rs1719271	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	15q22.31	ANKDD1A	rs1719271-G	NR	1E-11		3.414	[2.43-4.4] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1088	chr15	66051344	66051345	rs6494537	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	15q22.31	IGDCC4, DPP8, PTPLAD1, C15orf44, SLC24A1, DENND4A	rs6494537-C	0.27	3E-9		0.078	[0.053-0.103] unit increase	Illumina [561583]	N
1089	chr15	66070692	66070693	rs2572207	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	15q22.31	PTPLAD1, DENND4A	rs2572207-C	0.74	3E-9	(EA, MCV)	0.153	[0.096-0.210] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1092	chr15	66580852	66580853	rs7170930	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	15q22.31	MGC4562	rs7170930-?		5E-6				Affymetrix, Illumina [1348798]	N
1096	chr15	67033150	67033151	rs1440372	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q22.31	SMAD6	rs1440372-C	0.7143	3E-7	(men)	0.0277	[0.017-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1096	chr15	67033150	67033151	rs1440372	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q22.31	SMAD6	rs1440372-C	0.7142	3E-11		0.0247	[0.017-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1096	chr15	67033150	67033151	rs1440372	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q22.31	SMAD6	rs1440372-C	0.7114	9E-6	(women)	0.0219	[0.012-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1096	chr15	67033150	67033151	rs1440372	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q22.31	SMAD6	rs1440372-C	0.7114	1E-6	(EA, men)	0.0266	[0.016-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1096	chr15	67033150	67033151	rs1440372	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	15q22.31	SMAD6	rs1440372-C	0.7097	1E-10	(EA)	0.0244	[0.017-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1096	chr15	67066562	67066563	rs11858577	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	15q22.31	SMAD6	rs11858577-T	0.08	9E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1097	chr15	67155068	67155069	rs4589502	24658283	Zhang R	2014-03-22	Carcinogenesis	A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility.	Lung cancer (smoking interaction)	1,506 Han Chinese ancestry smoker cases, 825 Han Chinese ancestry non-smoker cases, 1,309 Han Chinese ancestry smoker controls, 1,768 Han Chinese ancestry non-smoker controls	912 Han Chinese ancestry smoker cases, 622 Han Chinese ancestry non-smoker cases, 572 Han Chinese ancestry smoker controls, 917 Han Chinese ancestry non-smoker controls	15q22.31	SMAD6, SMAD3	rs4589502-T		4E-6		1.55	[1.29-1.87]	Affymetrix [591370]	N
1099	chr15	67442595	67442596	rs17293632	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	15q22.33	NR	rs17293632-A	0.2364	1E-7	(EA)	1.0799718	[1.05-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1099	chr15	67442595	67442596	rs17293632	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	15q22.33	NR	rs17293632-A	0.2364	3E-20	(EA)	1.1131175	[1.09-1.14]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1099	chr15	67442595	67442596	rs17293632	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	15q22.33	NR	rs17293632-A	0.2364	4E-20	(EA)	1.1369898	[1.11-1.16]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1099	chr15	67442595	67442596	rs17293632	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	15q22.33	SMAD3	rs17293632-T	0.235	6E-16		1.067	[1.032-1.102]	Affymetrix, Illumina [1230000] (imputed)	N
1099	chr15	67442595	67442596	rs17293632	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	15q22.33	SMAD3	rs17293632-T	0.233	3E-19		1.12	[1.07-1.16]	Affymetrix, Illumina [953241] (imputed)	N
1099	chr15	67446784	67446785	rs744910	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	15q22.33	SMAD3	rs744910-G	0.49	4E-9		1.12	[1.09-1.16]	Illumina [582892]	N
1099	chr15	67450304	67450305	rs17228058	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	15q22.33	SMAD3	rs17228058-G	0.2353	1E-8		0.0789	[0.052-0.106] unit increase	Illumina [2400000] (imputed)	N
1099	chr15	67458638	67458639	rs17228212	17634449	Samani NJ	2007-07-18	N Engl J Med	Genomewide association analysis of coronary artery disease.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	875 European ancestry cases, 1,644 European ancestry controls	15q22.33	SMAD3	rs17228212-C	0.30	2E-7		1.21	[1.13-1.30]	Affymetrix [377857]	N
1099	chr15	67467506	67467507	rs12913547	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	15q22.33	SMAD3	rs12913547-T	0.77	5E-10		0.08	[0.041-0.119] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1099	chr15	67468284	67468285	rs17294280	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	15q22.33	SMAD3	rs17294280-G	0.23	4E-9		1.18	[1.11-1.25]	Illumina [up to 4972397] (imputed)	N
1101	chr15	67702906	67702907	rs7359257	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	15q23	IQCH	rs7359257-A	0.45	2E-6		1.7	[0.92-2.48] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1103	chr15	67959463	67959464	rs8032675	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	15q23	MAP2K5	rs8032675-T	0.4	2E-13		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1103	chr15	68016342	68016343	rs997295	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	15q23	MAP2K5	rs997295-T	0.588	3E-9		0.033	[0.022-0.044] unit decrease	Illumina [7428049] (imputed)	N
1104	chr15	68036851	68036852	rs12593813	21779176	Winkelmann J	2011-07-14	PLoS Genet	Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.	Restless legs syndrome	922 European ancestry cases, 1,526 European ancestry controls	3,935 European ancestry cases, 5,754 European ancestry controls	15q23	MAP2K5, SKOR1	rs12593813-G	0.68	1E-22		1.41	[1.32-1.52]	Affymetrix [301406]	N
1104	chr15	68036851	68036852	rs12593813	17637780	Winkelmann J	2007-07-18	Nat Genet	Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.	Restless legs syndrome	401 European ancestry cases, 1,644 European ancestry controls	906 European ancestry cases, 891 European ancestry controls, 255 French Canadian cases, 287 French Canadian controls	15q23	MAP2K5, LBXCOR1	rs12593813-G	0.67	1E-15		1.5	[1.36-1.66]	Affymetrix [236758]	N
1104	chr15	68043056	68043057	rs8028313	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	15q23	MAP2K5	rs8028313-C	0.79	1E-11	(Overweight)	1.06	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1104	chr15	68043056	68043057	rs8028313	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	15q23	MAP2K5	rs8028313-C	0.78	6E-13	(Obesity class I)	1.08	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1104	chr15	68077167	68077168	rs16951275	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q23	MAP2K5	rs16951275-T	0.786	9E-11	(EA, men)	0.032	[0.022-0.042] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1104	chr15	68077167	68077168	rs16951275	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q23	MAP2K5	rs16951275-T	0.784	2E-17	(EA)	0.031	[0.024-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1104	chr15	68077167	68077168	rs16951275	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q23	MAP2K5	rs16951275-T	0.783	3E-10	(EA, women)	0.03	[0.021-0.04] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1104	chr15	68077167	68077168	rs16951275	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q23	MAP2K5	rs16951275-T	0.771	2E-18		0.03	[0.024-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1104	chr15	68080885	68080886	rs4776970	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	15q23	MAP2K5	rs4776970-A	0.22	3E-7		0.0317	[0.02-0.044] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1104	chr15	68080885	68080886	rs4776970	22344219	Wen W	2012-02-19	Nat Genet	Meta-analysis identifies common variants associated with body mass index in east Asians.	Body mass index	22,762 East Asian ancestry individuals, 2,522 Malay ancestry individuals, 2,431 Chinese, Malay and Asian Indian ancestry individuals	53,215 East Asian ancestry results, 2,118 Malay ancestry individuals	15q23	MAP2K5	rs4776970-A	0.22	2E-9		2.55	[0.79-4.31] % increase	Affymetrix, Illumina [2474474] (imputed)	N
1104	chr15	68086837	68086838	rs2241423	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	15q23	MAP2K5, LBXCOR1	rs2241423-G	0.78	1E-18		0.13	[0.09-0.17] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1104	chr15	68150922	68150923	rs4776997	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	15q23	LBXCOR1, MAP2K5	rs4776997-G	0.84	1E-6	(VPWL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
1105	chr15	68198910	68198911	rs448720	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	15q23	RNU6-2, RNU6-1	rs448720-?	NR	5E-6	(TrailsB)			Illumina [up to 563855]	N
1105	chr15	68260007	68260008	rs338389	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in rectal cancer	171 European ancestry cases	NA	15q23	intergenic	rs338389-?		3E-6	(overall survival)	3.4	[2.04-5.67]	Illumina [729737]	N
1108	chr15	68597126	68597127	rs7174755	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	15q23	PIAS1, CALML4, CLN6, FEM1B, ITGA11	rs7174755-C	0.3690476	3E-7	(% improvement - SSRI treated - 2 weeks)	0.2048	[0.13-0.28] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
1108	chr15	68597126	68597127	rs7174755	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	15q23	ITGA11	rs7174755-T	0.63	9E-7	(% improvement - 2 weeks)	1.168	[1.11-1.23]	Affymetrix, Illumina [1200000] (imputed)	N
1109	chr15	68715031	68715032	rs7164335	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	15q23	ITGA11	rs7164335-?	NR	1E-7				Affymetrix [504219]	N
1109	chr15	68718986	68718987	rs16952065	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q23	NR	rs16952065-C	0.93746857524488	6E-6	(IGP15)	0.4117	[0.23-0.59] unit decrease	Illumina [~ 2500000] (imputed)	N
1109	chr15	68718986	68718987	rs16952065	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q23	NR	rs16952065-C	0.937426751336898	1E-6	(IGP28)	0.4401	[0.26-0.62] unit decrease	Illumina [~ 2500000] (imputed)	N
1109	chr15	68735585	68735586	rs1445021	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	15q23	intergenic	rs1445021-A	0.94	9E-6		0.1365	[0.076-0.197] unit increase	Affymetrix [~ 2740000] (imputed)	N
1110	chr15	68892988	68892989	rs11856323	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	15q23	CORO2B	rs11856323-?	0.07883	1E-7	(PAL8)			Illumina [475971]	N
1111	chr15	69059083	69059084	rs8030672	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	15q23	ANP32A	rs8030672-A	0.03	1E-11		1.56	[1.37-1.78]	Affymetrix [666141]	N
1114	chr15	69346945	69346946	rs311904	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q23	NOX5	rs311904-A	0.164	2E-6	(Leptin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1114	chr15	69346945	69346946	rs311904	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q23	NOX5	rs311904-A	0.164	2E-6	(Fat mass )	0.03	[NR] % increase	Illumina [899892]	N
1114	chr15	69398025	69398026	rs1392635	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity change in response to statin therapy	2,673 European ancestry cases, 2,656 European ancestry controls	NA	15q23	NOX5	rs1392635-A	0.26	2E-6	(percent change)	1.7	[0.92-2.48] percent increase	Illumina [796174]	N
1116	chr15	69650052	69650053	rs11072089	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	15q23	NR	rs11072089-?	NR	3E-6		1.8896	[NR]	Affymetrix [722112]	N
1118	chr15	69991416	69991417	rs8026898	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	15q23	LOC145837	rs8026898-A	0.27	6E-18	(EA)	1.15	[1.11-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1118	chr15	69991416	69991417	rs8026898	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	15q23	LOC145837	rs8026898-A	0.21	4E-19		1.15	[1.11-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1119	chr15	69995343	69995344	rs17374222	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	15q23	KIF3	rs17374222-A	0.49	2E-6		1.13	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
1119	chr15	70006872	70006873	rs4776472	17903304	Larson MG	2007-09-19	BMC Med Genet	Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.	Atrial fibrillation	151 cases and 1,190 controls from 310 families	NA	15q23	intergenic	rs4776472-?	NR	8E-6				Affymetrix [70897]	N
1119	chr15	70018989	70018990	rs7176508	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	15q23	RPLP1	rs7176508-A	0.38	8E-18		1.42	[NR]	Illumina [450000] (imputed)	N
1119	chr15	70018989	70018990	rs7176508	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	15q23	RPLP1	rs7176508-A	0.39	1E-17		1.32	[NR]	Illumina [549934]	N
1119	chr15	70018989	70018990	rs7176508	22700719	Slager SL	2012-06-13	Blood	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,121 European ancestry cases, 3,745 European ancestry controls	861 European ancestry cases, 2,033 European ancestry controls	15q23	NR	rs7176508-A	0.37	3E-11		1.42	[1.28-1.58]	Affymetrix, Illumina [~ 1500000] (imputed)	N
1119	chr15	70018989	70018990	rs7176508	18758461	Di Bernardo MC	2008-08-31	Nat Genet	A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	505 European ancestry cases, 1,438 European ancestry controls	1,024 European ancestry cases, 1,677 European ancestry controls	15q23	intergenic	rs7176508-A	0.37	5E-12		1.37	[1.26-1.50]	Illumina [345665]	N
1119	chr15	70048156	70048157	rs10152591	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q23	TLE3	rs10152591-A	0.91	3E-10		0.041	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1121	chr15	70364351	70364352	rs975210	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	15q23	TLE3	rs975210-A	0.184	1E-17		0.035	[0.027-0.043] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1121	chr15	70369377	70369378	rs11630316	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	15q23	TLE3	rs11630316-C	0.324	9E-6	(RAVLT)	2.2705	[1.28-3.26] unit increase	Affymetrix [> 371951] (imputed)	N
1122	chr15	70480613	70480614	rs6494849	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	15q23	NR	rs6494849-A	0.12	7E-6		1.23	[1.13-1.35]	Affymetrix, Illumina [2366197] (imputed)	N
1123	chr15	70576137	70576138	rs1971791	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	15q23	intergenic	rs1971791-G	0.47	1E-6	(Joint)	1.26	[1.14-1.4]	Illumina [254145]	N
1123	chr15	70589271	70589272	rs12148337	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q23	NR	rs12148337-T	NR	3E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
1123	chr15	70589271	70589272	rs12148337	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	15q23	TLE3	rs12148337-T	0.465	2E-8		1.06	[1.038-1.081]	Affymetrix, Illumina [9005918] (imputed)	N
1123	chr15	70634708	70634709	rs11072158	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	15q23	intergenic	rs11072158-?	0.85	3E-6		1.18	[1.1-1.27]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1125	chr15	70798558	70798559	rs8034004	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	15q23	intergenic	rs8034004-C	0.4435	6E-6		0.0611	[0.035-0.088] unit increase	Illumina [2400000] (imputed)	N
1127	chr15	71109146	71109147	rs1549318	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	15q23	LARP6	rs1549318-T	0.61	2E-10				Affymetrix, Illumina [~ 2500000] (imputed)	N
1129	chr15	71424008	71424009	rs12904863	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	15q23	CT62	rs12904863-C	0.08	6E-6	(AA-triglyceride response)	30.31	[17.22-43.4] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1131	chr15	71572953	71572954	rs76917273	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	15q23	NR	rs76917273-C	0.007	5E-6		0.587	[0.34-0.84] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1131	chr15	71574798	71574799	rs9806183	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	15q23	THSD4	rs9806183-C	0.66	2E-6	(Age 20-60 years)	1.37	[1.20-1.57]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1131	chr15	71576754	71576755	rs1442779	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	15q23	THSD4	rs1442779-?	0.72	7E-6	(Age 20-81 years)	1.33	[1.18-1.52]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1131	chr15	71576754	71576755	rs1442779	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	15q23	THSD4	rs1442779-A	0.28	7E-6	(Age 20-60 years)	0.0543	[0.031-0.078] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1131	chr15	71608618	71608619	rs17786786	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	15q23	NR	rs17786786-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
1131	chr15	71645119	71645120	rs12899618	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	15q23	THSD4	rs12899618-?	NR	4E-21	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
1131	chr15	71645119	71645120	rs12899618	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	15q23	THSD4	rs12899618-G	0.85	7E-15	(FEV1/FVC)	0.06	[0.044-0.076] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1131	chr15	71679958	71679959	rs2044029	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	15q23	THSD4	rs2044029-A	.4	1E-7	(All)	1.17	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
1132	chr15	71696885	71696886	rs12441227	23932459	Yao TC	2013-08-06	J Allergy Clin Immunol	Genome-wide association study of lung function phenotypes in a founder population.	Pulmonary function	1,144 Hutterite individuals	NA	15q23	THSD4, TLE3, UACA	rs12441227-?	NR	3E-9	(FEV1/FVC)			Affymetrix [246010]	N
1135	chr15	72107173	72107174	rs113441626	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	15q23	NR	rs113441626-?	NR	8E-8	(Native Hawaiian)	1.3074	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1135	chr15	72161402	72161403	rs12902421	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q23	MYO9A	rs12902421-T	0.97	3E-8		0.062	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1135	chr15	72169465	72169466	rs12050794	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	15q23	MYO9A, SENP8, NR2E3, GRAMD2	rs12050794-G		2E-6		0.2996	unit decrease	Illumina [5767231] (imputed)	N
1138	chr15	72498936	72498937	rs113920924	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	15q23	NR	rs113920924-?	NR	9E-6	(Native Hawaiian)	1.0445	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1142	chr15	73082365	73082366	rs4777542	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	15q24.1	ADPGK	rs4777542-T	0.32	2E-7		0.029	[0.017-0.041] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1142	chr15	73093990	73093991	rs7164727	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q24.1	LOC100287559	rs7164727-T	0.686	9E-6	(EA, women)	0.019	[0.01-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1142	chr15	73093990	73093991	rs7164727	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q24.1	LOC100287559	rs7164727-T	0.686	7E-8	(EA)	0.018	[0.012-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1142	chr15	73093990	73093991	rs7164727	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q24.1	LOC100287559	rs7164727-T	0.671	4E-9		0.019	[0.013-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1142	chr15	73125991	73125992	rs7495694	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	15q24.1	ADPGK-AS1	rs7495694-G	0.02	1E-9		7.6	[NR]	Affymetrix [4893794] (imputed)	N
1146	chr15	73652173	73652174	rs7164883	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	15q24.1	HCN4	rs7164883-G	0.16	3E-17		1.19	[1.14-1.24]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1147	chr15	73665505	73665506	rs4489968	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	15q24.1	HCN4	rs4489968-T	0.843	4E-20		0.513	[0.40-0.63] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
1147	chr15	73749607	73749608	rs11635553	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q24.1	NR	rs11635553-G	0.99282491474212	9E-6	(IGP76)	1.0357	[0.58-1.49] unit increase	Illumina [~ 2500000] (imputed)	N
1147	chr15	73749607	73749608	rs11635553	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q24.1	NR	rs11635553-G	0.992814619440459	6E-6	(IGP75)	1.0594	[0.6-1.52] unit decrease	Illumina [~ 2500000] (imputed)	N
1147	chr15	73749607	73749608	rs11635553	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q24.1	NR	rs11635553-G	0.992804206752874	4E-6	(IGP74)	1.0812	[0.62-1.54] unit decrease	Illumina [~ 2500000] (imputed)	N
1149	chr15	73978336	73978337	rs8038465	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	15q24.1	CD276	rs8038465-T	0.39	1E-9		2.4	[1.80-3.00] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1149	chr15	74012436	74012437	rs1038094	21738484	Smith EN	2011-06-30	PLoS Genet	Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.	Bipolar disorder	1,190 European and unknown ancestry cases, 401 European and unknown ancestry controls	16,179 individuals	15q24.1	CD276	rs1038094-G	NR	9E-6		1.27	[NR]	Affymetrix [703019]	N
1149	chr15	74046662	74046663	rs4887140	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	15q24.1	C15orf59, TBC1D21	rs4887140-?		7E-8	(SI)	0.31	[0.11-0.51] unit increase	Illumina [693128]	N
1150	chr15	74176556	74176557	rs16958445	24938310	Nakano M	2014-06-18	Sci Rep	Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.	Exfoliation glaucoma or exfoliation syndrome	201 Japanese ancestry cases, 697 Japanese ancestry controls	121 Japanese ancestry cases, 263 Japanese ancestry controls	15q24.1	TBC1D21	rs16958445-G	0.834	2E-16		5.18	[3.37-7.94]	Affymetrix [652792]	N
1151	chr15	74219581	74219582	rs3825942	17690259	Thorleifsson G	2007-08-09	Science	Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.	Glaucoma (exfoliation)	75 European ancestry cases, 14,474 European ancestry controls	199 European ancestry cases, 198 European ancestry controls	15q24.1	LOXL1	rs3825942-G	0.85	3E-21		20.1	[10.80-37.41]	Illumina [304250]	N
1151	chr15	74224995	74224996	rs4886776	25706626	Aung T	2015-02-23	Nat Genet	A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.	Exfoliation syndrome	1,484 Japanese ancestry cases, 1,188 Japanese ancestry controls	1,530 East Asian ancestry cases, 6,230 East Asian ancestry controls, 1,064 Southern Indian ancestry cases, 3,536 Southern Indian ancestry controls, 140 Hispanic cases, 233 Hispanic controls, 347 Middle Eastern ancestry cases, 1,108 Middle Eastern ancestry controls, 3,588 European ancestry cases, 9,012 European ancestry controls, 102 South African Black cases, 379 South African Black controls, 50 Uighur cases, 49 Uighur controls, 80 cases, 180 controls	15q24.1	LOXL1	rs4886776-A	NR	5E-29				Illumina [581023]	N
1151	chr15	74224995	74224996	rs4886776	25706626	Aung T	2015-02-23	Nat Genet	A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.	Exfoliation syndrome	1,484 Japanese ancestry cases, 1,188 Japanese ancestry controls	1,530 East Asian ancestry cases, 6,230 East Asian ancestry controls, 1,064 Southern Indian ancestry cases, 3,536 Southern Indian ancestry controls, 140 Hispanic cases, 233 Hispanic controls, 347 Middle Eastern ancestry cases, 1,108 Middle Eastern ancestry controls, 3,588 European ancestry cases, 9,012 European ancestry controls, 102 South African Black cases, 379 South African Black controls, 50 Uighur cases, 49 Uighur controls, 80 cases, 180 controls	15q24.1	LOXL1	rs4886776-A	NR	2E-217	(Japanese)	9.87	[NR]	Illumina [581023]	N
1151	chr15	74226764	74226765	rs4337252	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	15q24.1	LOXL1	rs4337252-C	0.5	7E-9		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1151	chr15	74229064	74229065	rs893817	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Aortic root size	12,612 European ancestry individuals	4,094 European ancestry individuals	15q24.1	LOXL1	rs893817-G	0.34	3E-6		0.02	[0.01-0.03] cm increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1151	chr15	74229194	74229195	rs893818	24938310	Nakano M	2014-06-18	Sci Rep	Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.	Exfoliation glaucoma or exfoliation syndrome	201 Japanese ancestry cases, 697 Japanese ancestry controls	121 Japanese ancestry cases, 263 Japanese ancestry controls	15q24.1	LOXL1	rs893818-T	0.535	3E-84		20.94	[13.98-31.39]	Affymetrix [652792]	N
1151	chr15	74241505	74241506	rs750460	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q24.1	PML	rs750460-?	NR	4E-12	(Conditioned on rs5742915)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1151	chr15	74305965	74305966	rs8039584	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		15q24.1	PML	rs8039584-?	0.044	5E-8			[NR]	Affymetrix, Illumina [152234]	N
1152	chr15	74336632	74336633	rs5742915	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	15q24.1	PML	rs5742915-T	0.535	2E-29		0.035	[0.029-0.041] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1152	chr15	74336632	74336633	rs5742915	21623375	Albagha OM	2011-05-29	Nat Genet	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.	Paget's disease	741 European ancestry cases, 2,699 European ancestry controls	1,474 European ancestry cases, 1,671 European ancestry controls	15q24.1	PML	rs5742915-C	0.45	2E-14		1.34	[1.25-1.45]	Illumina [2487078] (imputed)	N
1152	chr15	74336632	74336633	rs5742915	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q24.1	PML	rs5742915-T	0.54	1E-15		0.031	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1153	chr15	74548772	74548773	rs9783698	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q24.1	CCDC33	rs9783698-A	0.15	3E-6	(Urinary creatinine )	0.04	[NR] mmol/d increase	Illumina [899892]	N
1153	chr15	74548772	74548773	rs9783698	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q24.1	CCDC33	rs9783698-A	0.15	1E-6	(Urinary free dopamine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
1153	chr15	74550049	74550050	rs11635191	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q24.1	CCDC33, LOC729740, CYP11A1	rs11635191-A	0.217	1E-6		2.32	[1.64-3.3]	Illumina [1556551]	N
1155	chr15	74716608	74716609	rs8036030	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	15q24.1	SEMA7A	rs8036030-?	0.61	8E-6	(No asthma)	1.1765	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
1156	chr15	74912327	74912328	rs11543198	25281661	Matsuda K	2014-10-03	Hum Mol Genet	Genome wide association study identified SNP on 15q24 associated with bladder cancer risk in Japanese population.	Bladder cancer	531 Japanese ancestry cases, 5,581 Japanese ancestry conrols	592 Japanese ancestry cases, 6,964 Japanese ancestry controls, 3,508 European ancestry cases, 5,101 European ancestry controls	15q24.1	CLK3, CYP1A2	rs11543198-G	0.78	4E-9	(Japanese)	1.41	[1.26-1.59]	Illumina [554389]	N
1157	chr15	75019448	75019449	rs2470893	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption	17,479 European ancestry high consumption individuals, 31,049 European ancestry no or low consumption individuals	6,497 European ancestry high consumption individuals, 432 African American high consumption individuals, 6,972 European ancestry no or low consumption individuals, 3,413 African American no or low consumption individuals	15q24.1	CYP1A1, CYP1A2	rs2470893-T	0.31	5E-19		0.2	[0.16-0.24] unit increase	Affymetrix, Illumina [2376205] (imputed)	N
1157	chr15	75019448	75019449	rs2470893	21876539	Amin N	2011-08-30	Mol Psychiatry	Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.	Coffee consumption	18,176 European ancestry individuals	7,929 European ancestry individuals	15q24.1	CYP1A1, CYP1A2	rs2470893-T	NR	2E-11		0.0675	[0.05-0.09] unit increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1157	chr15	75019448	75019449	rs2470893	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	15q24.1	EDC3, CYP1A1, CYP1A2, LMAN1L, CSK	rs2470893-T	0.31	5E-14		0.12	[0.08-0.16] mg/day increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1157	chr15	75027879	75027880	rs2472297	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption (cups per day)	91,462 European ancestry individuals	30,062 European ancestry individuals, 7,964 African American individuals	15q24.1	CYP1A1, CYP1A2	rs2472297-T	0.24	2E-24		0.14	[0.12-0.16] unit increase	Affymetrix, Illumina [2373958] (imputed)	N
1157	chr15	75027879	75027880	rs2472297	21357676	Sulem P	2011-02-28	Hum Mol Genet	Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.	Coffee consumption	5,840 European ancestry individuals, 771 Sorbian individuals	4,050 European ancestry individuals	15q24.1	CYP1A1, CYP1A2	rs2472297-T	0.265	5E-14		0.31	[0.17-0.44] cups per day increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1157	chr15	75033399	75033400	rs2472299	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	15q24.1	intergenic	rs2472299-?	NR	3E-6				Illumina [574919]	N
1157	chr15	75044237	75044238	rs2472304	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	15q24.1	CYP1A2	rs2472304-A	0.65	3E-7		0.08	[0.06-0.10] mg/day increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1157	chr15	75077366	75077367	rs1378942	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	15q24.1	CYP1A1, ULK3	rs1378942-C	0.35	6E-23		0.613	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1157	chr15	75077366	75077367	rs1378942	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	15q24.1	CYP1A1, ULK3	rs1378942-C	0.35	3E-26		0.416	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1157	chr15	75077366	75077367	rs1378942	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	15q24.1	CSK	rs1378942-C	0.33	2E-15	(Mean Arterial Pressure)	0.386	[0.29-0.48] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1157	chr15	75077366	75077367	rs1378942	19430483	Newton-Cheh C	2009-05-10	Nat Genet	Genome-wide association study identifies eight loci associated with blood pressure.	Diastolic blood pressure	34,433 European ancestry individuals	Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals	15q24.1	CYP1A1, CYP1A2, LMAN1L, CPLX3, CSK, ARID3B	rs1378942-C	0.36	1E-23		0.43	[0.35-0.51] mm Hg increase	Affymetrix, Illumina [2497993] (imputed)	N
1158	chr15	75125644	75125645	rs6495122	21876539	Amin N	2011-08-30	Mol Psychiatry	Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.	Coffee consumption	18,176 European ancestry individuals	7,929 European ancestry individuals	15q24.1	CPLX3, ULK3	rs6495122-A	NR	7E-9		0.05	[0.03-0.07] unit decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1158	chr15	75125644	75125645	rs6495122	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	15q24.1	CYP1A2, LMAN1L, SCAMP2, CPLX3, MP1, CSK, ULK3, COX5A, C14orf17	rs6495122-A	0.43	6E-7		0.07	[0.05-0.09] mg/day decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1158	chr15	75125644	75125645	rs6495122	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Diastolic blood pressure	29,136 European ancestry individuals	34,433 European ancestry individuals	15q24.1	CSK, ULK3	rs6495122-A	0.42	2E-10		0.4	[0.28-0.52] mm Hg increase	Affymetrix, Illumina [2533153] (imputed)	N
1158	chr15	75132318	75132319	rs936229	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	261 Japanese ancestry cases, 262 Japanese ancestry controls	NA	15q24.1	ULK3	rs936229-G	0.595	4E-6	(Dominant model)	1.685	[1.302-2.18]	Illumina [733202]	N
1159	chr15	75334183	75334184	rs2120019	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	15q24.2	SCAMP5, PPCDC	rs2120019-C	NR	2E-18		0.287	[0.22-0.35] unit decrease	Illumina [> 2500000] (imputed)	N
1160	chr15	75382541	75382542	rs12148488	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	15q24.2	SCAMP5, PPCDC	rs12148488-T	0.50	6E-7		0.07	[0.05-0.09] mg/day decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1160	chr15	75424592	75424593	rs7172677	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	15q24.2	CSK	rs7172677-?	NR	3E-8		1.207	[NR]	Illumina [NR]	N
1160	chr15	75449673	75449674	rs4886670	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)	218 Japanese ancestry cases, 364 Japanese controls	NA	15q24.2	RPL36AP45	rs4886670-A	0.229	7E-6	(Allelic model)	1.835	[1.412-2.383]	Illumina [733202]	N
1160	chr15	75449673	75449674	rs4886670	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)	428 Japanese ancestry cases, 743 Japanese ancestry controls	NA	15q24.2	RPL36AP45	rs4886670-A	0.227	1E-6	(Allelic model)	1.605	[1.330-1.937]	Illumina [733202]	N
1162	chr15	75718668	75718669	rs8028182	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	15q24.2	SIN3A	rs8028182-?	0.18	3E-6	(Recessive)	1.36	[1.19-1.54]	Affymetrix [319222]	N
1162	chr15	75755466	75755467	rs4886707	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	15q24.2	SIN3A, PTPN9	rs4886707-T	0.42	8E-8		0.06	[0.04-0.08] cm increase	Illumina [420885]	N
1163	chr15	75866149	75866150	rs7184046	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	15q24.2	PTPN9	rs7184046-C	0.42	2E-10		0.03	[0.018-0.042] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1163	chr15	75870550	75870551	rs75393192	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	15q24.2	NR	rs75393192-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
1166	chr15	76158982	76158983	rs1394125	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	15q24.2	UBE2Q2, NRG4	rs1394125-A	0.34	3E-13		0.043	[0.031-0.055] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1166	chr15	76158982	76158983	rs1394125	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	15q24.2	UBE2Q2, FBX022	rs1394125-A	0.35	3E-17	(eGFRcrea)	0.01	[0.007-0.011] ml/min/1.73 m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1167	chr15	76293970	76293971	rs11072566	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	15q24.2	NRG4	rs11072566-A	0.48	3E-10	(EA, Hgb)	0.028	[0.016-0.040] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1167	chr15	76298131	76298132	rs4886755	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	15q24.2	UBE2Q2, FBXO22, NRG4	rs4886755-G	0.5	8E-6	(men)	0.094	[0.053-0.135] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1169	chr15	76546932	76546933	rs1914816	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	15q24.2	ETFA	rs1914816-?	0.3	7E-7	(CDAS28, EA, RF-)	0.87	[NR] unit increase	Illumina [534053]	N
1170	chr15	76700588	76700589	rs2957613	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q24.3	NR	rs2957613-T	NR	5E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
1172	chr15	77030791	77030792	rs2404602	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	15q24.3	SCAPER	rs2404602-A	0.44	4E-13	(isobutyrylcarnitine)	0.026	[0.018-0.034] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1173	chr15	77104855	77104856	rs3099143	25935106	Kim KW	2015-04-30	J Allergy Clin Immunol	Genome-wide association study of recalcitrant atopic dermatitis in Korean children.	Recalcitrant atopic dermatitis	246 Korean ancestry child cases, 551 Korean ancestry adult controls	NA	15q24.3	SCAPER	rs3099143-C	0.137	3E-7		2.126	[1.594-2.841]	Affymetrix [2501352] (imputed)	N
1178	chr15	77747189	77747190	rs7178572	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	15q24.3	HMG20A	rs7178572-G	0.7	2E-11		1.08	[1.04-1.13]	Affymetrix, Illumina [2500000] (imputed)	N
1178	chr15	77747189	77747190	rs7178572	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	15q24.3	HMG20A	rs7178572-G	0.70	1E-8	(Obese)	1.11	[1.07-1.15]	NR [NR]	N
1178	chr15	77747189	77747190	rs7178572	21874001	Kooner JS	2011-08-28	Nat Genet	Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.	Type 2 diabetes	5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls	13,170 South Asian ancestry cases, 25,398 South Asian ancestry controls	15q24.3	HMG20A	rs7178572-G	0.52	7E-11		1.09	[1.06-1.12]	Illumina [568976]	N
1178	chr15	77777631	77777632	rs7119	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	15q24.3	HMG20A	rs7119-T	0.19	5E-7	(Chinese+Malay+Indian)	1.24	[1.14-1.34]	Illumina [~ 2000000] (imputed)	N
1178	chr15	77819675	77819676	rs7172809	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	15q24.3	intergenic	rs7172809-?		9E-6	(MCRI)	0.18	[0.082-0.278] unit increase	Illumina [693128]	N
1178	chr15	77851534	77851535	rs2137111	22216198	Athanasiadis G	2011-12-28	PLoS One	A genome-wide association study of the Protein C anticoagulant pathway.	Anticoagulant levels	397 European ancestry individuals from 21 families	NA	15q24.3	LRRN6A	rs2137111-?	NR	7E-6	(fPS)			Illumina [283437]	N
1179	chr15	77963886	77963887	rs9652490	19182806	Stefansson H	2009-02-01	Nat Genet	Variant in the sequence of the LINGO1 gene confers risk of essential tremor.	Essential tremor	452 European ancestry cases, 14,378 European ancestry controls	301 European ancestry cases, 1,419 European ancestry controls	15q24.3	LINGO1	rs9652490-G	0.23	1E-9		1.55	[1.35-1.79]	Illumina [305624]	N
1181	chr15	78164705	78164706	rs11857176	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (doxorubicin)	83 Japanese ancestry cases, 66 Japanese ancestry controls	NA	15q24.3	LOC100302666	rs11857176-A	0.515	8E-7	(Recessive model)	1.8	[1.127-2.874]	Illumina [733202]	N
1182	chr15	78269471	78269472	rs12906542	23354978	Rinella ES	2013-01-25	Hum Genet	Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.	Breast cancer	477 Ashkenazi Jewish cases, 524 Ashkenazi Jewish controls	203 Ashkenazi Jewish cases, 263 Ashkenazi Jewish contols	15q24.3	intergenic	rs12906542-?	0.93	7E-7	(Meta P value)	2.0	[NR]	Affymetrix [435632]	N
1184	chr15	78530939	78530940	rs1533665	20691247	Verweij KJ	2010-08-04	Biol Psychol	A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.	Personality dimensions	5,117 European ancestry individuals from 2567 families	NA	15q25.1	ACSBG1	rs1533665-G	0.36	7E-6	(Novelty Seeking)	0.1	[NR] unit decrease	Affymetrix, Illumina [1252387] (imputed)	N
1185	chr15	78698758	78698759	rs7163013	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q25.1	IREB2	rs7163013-G	0.351	9E-6	(Urinary free epinephrine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
1185	chr15	78741617	78741618	rs7181486	25101718	Lee JH	2015-03-01	Am J Respir Cell Mol Biol	IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.	Pulmonary artery enlargement in chronic obstructive pulmonary disease	1,006 European ancestry cases, 260 African American cases, 3,281 European ancestry controls, 494 African American controls	NA	15q25.1	IREB2, AGPHD1	rs7181486-C	0.39	2E-8		1.32	[1.20-1.45]	Illumina [NR] (imputed)	N
1185	chr15	78774270	78774271	rs8042238	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease	3,777 European ancestry cases, 3,520 European ancestry smoker controls	NA	15q25.1	IREB2	rs8042238-T	0.64	5E-8		1.26	[1.16-1.37]	Illumina [NR] (imputed)	N
1186	chr15	78783276	78783277	rs11858836	22080838	Cho MH	2011-11-11	Hum Mol Genet	A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.	Chronic obstructive pulmonary disease	3,499 European ancestry cases, 1,922 European ancestry controls	983 cases, 1,876 sibling controls	15q25.1	CHRNA5, IREB2, CHRNA3	rs11858836-?	NR	1E-6		1.29	[1.13-1.47]	Illumina [797983]	N
1186	chr15	78789487	78789488	rs13180	20173748	Cho MH	2010-02-21	Nat Genet	Variants in FAM13A are associated with chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease	2,940 European ancestry cases, 1,380 European ancestry controls	502 European ancestry cases, 504 European ancestry controls, 1,110 cases, 2,698 controls	15q25.1	CHRNA5, IREB2, CHRNA3	rs13180-?	0.36	2E-8		1.3	[1.18-1.43]	Illumina [499578]	N
1186	chr15	78801393	78801394	rs11852372	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	15q25.1	AGPHD1	rs11852372-A	0.65	2E-10	(Panlobular)	0.003	[0.0018-0.0042] unit decrease	Illumina [6942916] (imputed)	N
1186	chr15	78801393	78801394	rs11852372	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	15q25.1	AGPHD1	rs11852372-A	0.65	1E-7	(Panlobular, EA)	0.003	[0.0018-0.0042] unit decrease	Illumina [6942916] (imputed)	N
1186	chr15	78802868	78802869	rs9788721	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	15q25.1	AGPHD1	rs9788721-T	NR	6E-7	(%LAA-950, Cases)	0.1	unit decrease	Illumina [7600000] (imputed)	N
1186	chr15	78802868	78802869	rs9788721	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	15q25.1	AGPHD1	rs9788721-T	NR	1E-6	(Perc15, All)	1.7	[1.01-2.39] unit increase	Illumina [7600000] (imputed)	N
1186	chr15	78802868	78802869	rs9788721	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	15q25.1	AGPHD1	rs9788721-T	0.62	2E-13	(Severe Centrilobular)	0.007	[0.0050-0.0090] unit decrease	Illumina [6942916] (imputed)	N
1186	chr15	78802868	78802869	rs9788721	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	15q25.1	AGPHD1	rs9788721-T	0.62	1E-12	(Severe Centrilobular, EA)	0.007	[0.0050-0.0090] unit decrease	Illumina [6942916] (imputed)	N
1186	chr15	78806022	78806023	rs8034191	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	15q25.1	CHRNA3	rs8034191-?	NR	3E-26		1.29	[1.23-1.35]	Illumina [511919]	N
1186	chr15	78806022	78806023	rs8034191	19300482	Pillai SG	2009-03-20	PLoS Genet	A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.	Chronic obstructive pulmonary disease	823 cases, 810 controls	1,891 European ancestry individuals from 606 families, 389 European ancestry cases, 472 European ancestry controls, 949 individuals from 127 families	15q25.1	CHRNA5, CHRNA3, CHRNA4, LOC123688	rs8034191-C	0.33	1E-10		1.4	[1.18-1.67]	Illumina [493609]	N
1186	chr15	78806022	78806023	rs8034191	18780872	Liu P	2008-09-17	J Natl Cancer Inst	Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.	Lung cancer	194 European ancestry cases, 219 European ancestry controls	3,878 cases, 4,831 controls	15q25.1	CHRNA5, PSMA4, CHRNA3, LOC123688, CHRNB4	rs8034191-G	NR	1E-8		1.38	[1.17-1.64]	Affymetrix [up to 722376]	N
1186	chr15	78806022	78806023	rs8034191	18385738	Hung RJ	2008-04-03	Nature	A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.	Lung cancer	1,926 European ance other ancestry cases, 2,522 European and other ancestry controls	332 European ancestry cases, 462 European ancestry controls, 2,181 European and other ancestry cases, 4,290 European and other ancestry controls	15q25.1	CHRNA5, CHRNA3, PSMA4, LOC123688, CHRNB4	rs8034191-C	0.34	5E-20		1.3	[1.23-1.37]	Illumina [310023]	N
1186	chr15	78806022	78806023	rs8034191	18385676	Amos CI	2008-04-03	Nat Genet	Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.	Lung cancer	1,154 European ancestry cases, 1,137 European ancestry controls	2,724 European ancestry cases, 3,694 European ancestry controls	15q25.1	CHRNA5, CHRNA3, PSMA4, LOC123688	rs8034191-G	NR	3E-18		1.3	[1.15-1.47]	Illumina [317498]	N
1186	chr15	78814045	78814046	rs10519203	25551457	Baumert J	2014-12-31	PLoS One	No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects.	Fibrinogen levels (smoking status, alcohol consumption or body mass index interaction)	up to 80,607 European ancestry individuals	NA	15q25.1	LOC123688	rs10519203-A	0.648	6E-8	(Smoking status)	0.048	[0.030-0.066] g/L decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
1186	chr15	78816056	78816057	rs8031948	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	15q25.1	AGPHD1	rs8031948-T	0.35	3E-9	(Smokers)	1.22		Affymetrix, Illumina [up to 2500000] (imputed)	N
1186	chr15	78827630	78827631	rs28675338	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	15q25.1	AGPHD1	rs28675338-C	0.89	1E-7		0.192	unit increase	Illumina [~ 6300000] (imputed)	N
1186	chr15	78833222	78833223	rs12901682	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	15q25.1	PSMA4	rs12901682-?	0.017	4E-8	(CSJC , EA, RF-)	135.02	[NR] unit decrease	Illumina [534053]	N
1186	chr15	78851614	78851615	rs2036527	22832964	David SP	2012-05-22	Transl Psychiatry	Genome-wide meta-analyses of smoking behaviors in African Americans.	Smoking behavior	Up to 32,389 African American individuals	NA	15q25.1	CHRNA5	rs2036527-A	0.22	2E-8	(CPD)	0.04	[0.026-0.054] unit increase	Affymetrix, Illumina [~ 2900000] (imputed)	N
1186	chr15	78851614	78851615	rs2036527	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	15q25.1	CHRNA5	rs2036527-G	NR	7E-7	(FEV1)	0.026	[0.016-0.036] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1186	chr15	78857895	78857896	rs503464	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	15q25.1	CHRNA5	rs503464-A	NR	3E-7	(Perc15, Cases)	3.2	[2.02-4.38] unit decrease	Illumina [7600000] (imputed)	N
1186	chr15	78863471	78863472	rs667282	22832964	David SP	2012-05-22	Transl Psychiatry	Genome-wide meta-analyses of smoking behaviors in African Americans.	Smoking behavior	Up to 32,389 African American individuals	NA	15q25.1	CHRNA5	rs667282-C	0.29	2E-7	(CPD)	0.033	[0.021-0.045] unit increase	Affymetrix, Illumina [~ 2900000] (imputed)	N
1186	chr15	78867481	78867482	rs17486278	25101718	Lee JH	2015-03-01	Am J Respir Cell Mol Biol	IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.	Pulmonary artery enlargement and chronic obstructive pulmonary disease	1,006 European ancestry cases, 260 African American cases, 2,712 European ancestry smoker controls, 1,749 African American smoker controls	NA	15q25.1	CHRNA5, PSMA4, IREB2, AGPHD1, CHRNA3	rs17486278-C	0.37	7E-10		1.42	[1.27-1.59]	Illumina [NR] (imputed)	N
1186	chr15	78867481	78867482	rs17486278	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	15q25.1	CHRNA5	rs17486278-A	0.63	8E-13	(normal)	0.03	[0.020-0.040] unit increase	Illumina [6942916] (imputed)	N
1186	chr15	78867481	78867482	rs17486278	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	15q25.1	CHRNA5	rs17486278-A	0.63	5E-10	(normal, EA)	0.03	[0.020-0.040] unit increase	Illumina [6942916] (imputed)	N
1186	chr15	78867481	78867482	rs17486278	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	15q25.1	CHRNA5	rs17486278-?	0.34	2E-7	(All)	1.18		Affymetrix, Illumina [up to 2500000] (imputed)	N
1186	chr15	78894338	78894339	rs1051730	20418890	The Tobacco and Genetics Consortium	2010-04-25	Nat Genet	Genome-wide meta-analyses identify multiple loci associated with smoking behavior.	Smoking behavior	Up to 74,035 European ancestry individuals	Up to 68,988 participants	15q25.1	CHRNA3	rs1051730-G	0.65	3E-73	(CPD)	1.02	[0.91-1.13] CPD decrease	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
1186	chr15	78894338	78894339	rs1051730	20418889	Liu JZ	2010-04-25	Nat Genet	Meta-analysis and imputation refines the association of 15q25 with smoking quantity.	Smoking behavior	41,150 European ancestry individuals	120,516 European ancestry individuals	15q25.1	CHRNA5, CHRNA3	rs1051730-G	0.66	2E-66		0.08	[0.07-0.09] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1186	chr15	78894338	78894339	rs1051730	20418888	Thorgeirsson TE	2010-04-25	Nat Genet	Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.	Smoking behavior	31,266 European ancestry individuals	54,731 European ancestry individuals	15q25.1	NR	rs1051730-A	0.34	2E-69		0.8	[0.70-0.90] CPD increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1186	chr15	78894338	78894339	rs1051730	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	15q25.1	CHRNA5, CHRNA3	rs1051730-T	0.35	2E-51		1.31	[1.27-1.36]	Illumina [515922]	N
1186	chr15	78894338	78894339	rs1051730	18978790	McKay JD	2008-11-02	Nat Genet	Lung cancer susceptibility locus at 5p15.33.	Lung cancer	2,971 European ancestry cases, 3,746 European ancestry controls	2,899 European ancestry cases, 5,573 European ancestry controls	15q25.1	intergenic	rs1051730-A	NR	1E-15		1.35	[1.25-1.45]	Illumina [315194]	N
1186	chr15	78894338	78894339	rs1051730	18385739	Thorgeirsson TE	2008-04-03	Nature	A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.	Nicotine dependence	10,995 European ancestry individuals	4,848 European ancestry individuals	15q25.1	CHRNA5, CHRNA3, CHRNB4	rs1051730-T	0.35	6E-20		0.1	[0.08-0.12] cigarettes per day increase	Illumina [306207]	N
1186	chr15	78898722	78898723	rs12914385	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	15q25.1	CHRNA3, AGPHD1	rs12914385-?	0.42	2E-8		1.32	[1.20-1.45]	Illumina [NR] (imputed)	N
1186	chr15	78898722	78898723	rs12914385	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	15q25.1	AGPHD1, CHRNA3, IREB2	rs12914385-T	0.42	3E-6	(EA)	1.27	[NR]	Illumina [NR] (imputed)	N
1186	chr15	78898722	78898723	rs12914385	25101718	Lee JH	2015-03-01	Am J Respir Cell Mol Biol	IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.	Chronic obstructive pulmonary disease	3,281 European ancestry cases, 494 African American cases, 2,712 European ancestry smoker controls, 1,749 African American smoker controls	NA	15q25.1	CHRNA3	rs12914385-T	NR	6E-7		1.23	[NR]	Illumina [NR] (imputed)	N
1186	chr15	78898722	78898723	rs12914385	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (severe)	3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls	2,651 cases and their relatives	15q25.1	CHRNA3	rs12914385-T	0.42	3E-16		1.39	[1.29-1.51]	Illumina [up to 701491] (imputed)	N
1186	chr15	78898722	78898723	rs12914385	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (moderate to severe)	5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls	2,651 cases and their relatives	15q25.1	CHRNA3	rs12914385-T	0.42	6E-14		1.28	[1.20-1.36]	Illumina [up to 701491] (imputed)	N
1186	chr15	78898722	78898723	rs12914385	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	15q25.1	CHRNA5, CHRNA3	rs12914385-C	0.61	6E-7		0.0077	[0.0048-0.0106] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1186	chr15	78898722	78898723	rs12914385	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	15q25.1	CHRNA3	rs12914385-T	NR	5E-7	(FEV1)	0.025	[0.015-0.035] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1186	chr15	78898931	78898932	rs55676755	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	15q25.1	CHRNA3	rs55676755-C	NR	2E-9	(%LAA-950, All)	0.11	[0.077-0.143] unit decrease	Illumina [7600000] (imputed)	N
1187	chr15	78908031	78908032	rs8042374	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q25.1	NR	rs8042374-A	NR	1E-12		1.09	[NR]	Illumina [7158791] (imputed)	N
1187	chr15	78908031	78908032	rs8042374	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	15q25.1	AC027228.1, AGPHD1, CHRNA3, CHRNA5, CHRNB4, IREB2, PSMA4	rs8042374-A	0.725	2E-13		1.093	[1.067-1.119]	Affymetrix, Illumina [9005918] (imputed)	N
1187	chr15	78908031	78908032	rs8042374	18978787	Wang Y	2008-11-02	Nat Genet	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.	Lung cancer	5,095 European ancestry cases, 5,200 European ancestry cases	2,448 European ancestry cases, 2,983 European ancestry controls	15q25.1	NR	rs8042374-?	NR	8E-12				Illumina [223891]	N
1187	chr15	78911180	78911181	rs8040868	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	15q25.1	CHRNA3	rs8040868-T	NR	9E-8	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
1187	chr15	78911180	78911181	rs8040868	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	15q25.1	CHRNA3	rs8040868-T	NR	7E-7	(FEV1, Pack-years)			NR [~ 2500000] (imputed)	N
1187	chr15	78911180	78911181	rs8040868	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q25.1	CHRNA3	rs8040868-G	0.239	6E-8	(Sleep energy expenditure adj weight )	0.05	[NR] kcal/d increase	Illumina [899892]	N
1187	chr15	78915871	78915872	rs55958997	25072098	Bloom AJ	2014-09-01	Ann Am Thorac Soc	Beyond cigarettes-per-day: A genome-wide association study of the biomarker carbon monoxide.	Exhaled carbon monoxide levels	1,521 European ancestry smoker individuals, 247 African American smoker individuals	NA	15q25.1	CHRNA5, CHRNB4, CHRNA3	rs55958997-?	NR	2E-9	(EA)	2.75	[1.86-3.64] unit increase	Illumina [NR]	N
1187	chr15	78923504	78923505	rs12914008	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	15q25.1	CHRNB4	rs12914008-G	0.302	6E-6	(IIV)	0.6	[0.35-0.85] unit increase	Illumina [799713]	N
1187	chr15	78926017	78926018	rs950776	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	15q25.1	CHRNB4	rs950776-?	0.68	4E-7	(Additive)	1.09	[1.06-1.13]	Affymetrix [319222]	N
1187	chr15	79019577	79019578	rs899997	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	15q25.1	ADAMTS7	rs899997-?		2E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
1187	chr15	79029722	79029723	rs2219939	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	15q25.1	ADAMTS7	rs2219939-?		2E-9				Affymetrix, Illumina [up to 2500000] (imputed)	N
1188	chr15	79080233	79080234	rs1994016	21239051	Reilly MP	2011-01-14	Lancet	Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.	Coronary artery disease	1,808 European ancestry cases, 915 European ancestry controls	10,585 European ancestry cases, 6,468 European ancestry controls	15q25.1	ADAMTS7	rs1994016-C	0.60	5E-13		1.19	[1.13-1.24]	Affymetrix, Illumina [> 2400000] (imputed)	N
1188	chr15	79089110	79089111	rs3825807	23561647	van Setten J	2013-03-13	Atherosclerosis	Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction.	Coronary artery calcification	2,620 European ancestry males	NA	15q25.1	ADAMTS7	rs3825807-A	0.57	7E-6		0.363	[0.21-0.52] unit increase	Illumina [2500000] (imputed)	N
1188	chr15	79089110	79089111	rs3825807	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	15q25.1	ADAMTS7	rs3825807-A	0.57	1E-12		1.08	[1.06-1.10]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1188	chr15	79111092	79111093	rs4380028	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	15q25.1	ADAMTS7, MORF4L1	rs4380028-C	0.65	4E-9		1.07	[1.05-1.10]	Illumina [574919]	N
1188	chr15	79141783	79141784	rs7173743	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	15q25.1	ADAMTS7	rs7173743-C	NR	7E-8		1.0753	[1.05-1.11]	Illumina [575000] (imputed)	N
1189	chr15	79224682	79224683	rs2289700	21771265	Yosifova A	2011-07-19	Genes Brain Behav	Genome-wide association study on bipolar disorder in the Bulgarian population.	Bipolar disorder	188 Bulgarian ancestry cases, 376 Bulgarian ancestry controls	122 Bulgarian ancestry cases, 328 Bulgarian ancestry controls	15q25.1	CTSH	rs2289700-A	0.07	9E-6		2.13	[1.53-2.95]	Illumina [497732]	N
1189	chr15	79235445	79235446	rs3825932	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	15q25.1	CTSH	rs3825932-?	NR	8E-8				Affymetrix, Illumina [841622] (imputed)	N
1189	chr15	79235445	79235446	rs3825932	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	15q25.1	CTSH	rs3825932-T	0.68	3E-15		1.16	[1.10-1.22]	Affymetrix [up to 335565]	N
1189	chr15	79274045	79274046	rs3743200	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	15q25.1	RASGRF1	rs3743200-A	0.27	2E-6		0.16	[0.10-0.22] unit increase	Illumina [~ 318327]	N
1190	chr15	79372874	79372875	rs4778879	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	15q25.1	RASGRF1	rs4778879-G	0.44	4E-11		0.102	[0.073-0.131] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1191	chr15	79451868	79451869	rs939658	20835236	Hysi PG	2010-09-12	Nat Genet	A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.	Refractive error	4,270 European ancestry individuals	13,414 European ancestry individuals	15q25.1	RASGRF1	rs939658-G	0.52	2E-9		0.15	[0.10-0.20] diopter decrease	Illumina [~ 2200000] (imputed)	N
1191	chr15	79463846	79463847	rs1474256	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	15q25.1	RASGRF1, LOC729911	rs1474256-G	0.49	6E-6	(Dominant model)	1.2048	[NR]	Illumina [1795103]	N
1191	chr15	79533371	79533372	rs4779031	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q25.1	NR	rs4779031-C	0.211701583145561	2E-6	(IGP4)	0.1832	[0.11-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
1191	chr15	79552378	79552379	rs8025118	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	15q25.1	LOC729911	rs8025118-T	0.141	3E-6	(Semantic Fluency)	2.8961	[1.69-4.11] unit increase	Affymetrix [> 371951] (imputed)	N
1194	chr15	79927593	79927594	rs7177026	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	15q25.1	NR	rs7177026-?	NR	3E-6	(Japanese)	0.1442	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1195	chr15	79975646	79975647	rs4778720	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	15q25.1	intergenic	rs4778720-?	0.442	2E-6		1.46	[NR]	Illumina [3922209] (imputed)	N
1195	chr15	80013421	80013422	rs2692194	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q25.1	NR	rs2692194-G	0.626112833558255	9E-6	(IGP12)	0.1502	[0.084-0.217] unit decrease	Illumina [~ 2500000] (imputed)	N
1195	chr15	80069761	80069762	rs166870	25867717	Song N	2015-04-13	PLoS One	Prediction of breast cancer survival using clinical and genetic markers by tumor subtypes.	Disease-free survival in breast cancer	1,732 Korean ancestry cases	1,494 Korean ancestry cases	15q25.1	MTHFS	rs166870-T	0.13	3E-7	(HR+ HER2-)	2.3	[1.67-3.15]	Affymetrix [2210580] (imputed)	N
1196	chr15	80192974	80192975	rs36035742	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	15q25.1	ST20, MTHFS	rs36035742-T	0.05	4E-6	(Age 20-60 years)	0.1239	[0.072-0.176] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1197	chr15	80219592	80219593	rs75598935	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	15q25.1	C15orf37	rs75598935-A	0.02	6E-6	(Age 20-60 years)	0.1721	[0.098-0.246] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1198	chr15	80432221	80432222	rs11634397	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	15q25.1	ZFAND6	rs11634397-G		2E-9		1.06	[1.04-1.08]	Affymetrix, Illumina [2426886] (imputed)	N
1200	chr15	80694921	80694922	rs2278702	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	15q25.1	NR	rs2278702-?	0.83	6E-6		1.21	[NR]	Affymetrix [1769948] (imputed)	N
1202	chr15	81001277	81001278	rs12148329	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	15q25.1	FAM108C1	rs12148329-?		9E-7	(Hispanic)			Illumina [NR]	N
1204	chr15	81190531	81190532	rs11638450	25350695	Postmus I	2014-10-28	Nat Commun	Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.	Response to statins (LDL cholesterol change)	18,596 European ancestry individuals	23,279 European ancestry individuals	15q25.1	KIAA1199	rs11638450-T	0.376	3E-7		0.012	[0.0081-0.0159] unit decrease	Affymetrix, Illumina, Perlegen [at least 2500000] (imputed)	N
1205	chr15	81359136	81359137	rs2663905	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	15q25.1	LOC647020	rs2663905-A	0.75	5E-6	(UAZ Cert)			Affymetrix, Illumina [~ 2500000] (imputed)	N
1207	chr15	81533694	81533695	rs7172689	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	15q25.1	IL16	rs7172689-?	NR	4E-6	(count)			Perlegen [429981]	N
1207	chr15	81626724	81626725	rs3935740	23793441	Davis MF	2013-06-21	Hum Genet	Parkinson disease loci in the mid-western Amish.	Parkinson's disease	31 Amish cases, 767 Amish controls	NA	15q25.1	TMC3	rs3935740-T	0.08	2E-7				Affymetrix [622812]	N
1208	chr15	81705749	81705750	rs74249803	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	15q25.2	NR	rs74249803-?	NR	4E-7	(AA)	1.8701	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1212	chr15	82193845	82193846	rs77963519	24677629	Wolf EJ	2014-03-27	Depress Anxiety	A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.	Post-traumatic stress disorder	484 European ancestry trauma-exposed individuals	NA	15q25.2	MEX3B	rs77963519-?		4E-6		1.56	[0.91-2.21] unit increase	Illumina [1197702]	N
1212	chr15	82229998	82229999	rs16973225	25781442	Nan H	2015-03-17	JAMA	Association of aspirin and NSAID use with risk of colorectal cancer according to genetic variants.	Colorectal cancer (aspirin and/or NSAID use interaction)	8,634 European ancestry cases, 8,553 European ancestry controls	NA	15q25.2	IL16	rs16973225-?	NR	8E-9	(Case only)			Affymetrix, Illumina [2700000] (imputed)	N
1213	chr15	82352199	82352200	rs12324805	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	15q25.2	RKHD3	rs12324805-C	0.31	7E-6				Affymetrix, Illumina [2399588] (imputed)	N
1220	chr15	83254707	83254708	rs783540	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q25.2	NR	rs783540-G	NR	7E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1220	chr15	83352281	83352282	rs11638815	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity change in response to statin therapy	2,673 European ancestry cases, 2,656 European ancestry controls	NA	15q25.2	AP3B2	rs11638815-C	0.25	1E-6	(Change)	4.1	[2.14-6.06] nmol/min/ml increase	Illumina [796174]	N
1223	chr15	83726178	83726179	rs1568657	21326860	Tsai FJ	2011-02-04	PLoS One	Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.	Kawasaki disease	250 Han Chinese ancestry cases, 446 Han Chinese ancestry controls	208 Han Chinese ancestry cases, 366 Han Chinese ancestry controls	15q25.2	BTBD1	rs1568657-G	0.52	7E-6		1.409	[1.191-1.667]	Affymetrix [723638]	N
1227	chr15	84260541	84260542	rs141308780	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q25.2	NR	rs141308780-G	NR	3E-6		1.2987013	[NR]	Illumina [7158791] (imputed)	N
1227	chr15	84266144	84266145	rs2257011	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	15q25.2	SH3GL3	rs2257011-T	0.497	1E-47		0.044	[0.038-0.05] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1228	chr15	84286491	84286492	rs2562784	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	15q25.2	SH3GL3, ADAMTSL3	rs2562784-G	0.17	6E-8		0.34	[0.21-0.48] cm increase	Affymetrix, Illumina [2260683] (imputed)	N
1228	chr15	84315883	84315884	rs2554380	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	15q25.2	SH3GL3, ADAMTSL3	rs2554380-T	0.78	9E-7		4.5	[2.74-6.26] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1229	chr15	84514289	84514290	rs7162542	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	15q25.2	ADAMTSL3	rs7162542-C	0.447	8E-55		0.046	[0.04-0.052] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1229	chr15	84522754	84522755	rs1383484	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	15q25.2	ADAMTSL3	rs1383484-T	0.40	9E-7		0.04	[0.024-0.056] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
1230	chr15	84557675	84557676	rs2401171	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	15q25.2	ADAMTSL3	rs2401171-T	0.26	4E-21		0.052	[0.038-0.066] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1230	chr15	84568157	84568158	rs10906982	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Height	11,536 European ancestry individuals	NA	15q25.2	SH3GL3, ADAMTSL3	rs10906982-A	0.52	5E-7		0.07	[0.03-0.11] SD increase	Illumina [559712] (imputed)	N
1230	chr15	84568157	84568158	rs10906982	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	15q25.2	ADAMTSL3	rs10906982-A	0.52	2E-8		0.05	[0.02-0.07] s.d. increase (males)	Affymetrix [402951]	N
1230	chr15	84573040	84573041	rs7183263	20397748	Liu JZ	2010-04-01	Twin Res Hum Genet	Genome-wide association study of height and body mass index in Australian twin families.	Height	11,536 European ancestry individuals	NA	15q25.2	ADAMTSL3	rs7183263-G	0.52	4E-7		0.07	[0.03-0.11] SD increase	Illumina [559712] (imputed)	N
1230	chr15	84580155	84580156	rs11259933	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	15q25.2	ADAMTSL3	rs11259933-A	0.51	1E-19		1.19	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1230	chr15	84580581	84580582	rs11259936	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q25.2	ADAMTSL3	rs11259936-A	0.48	2E-35		0.044	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1230	chr15	84582123	84582124	rs4842838	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	15q25.2	ADAMTSL3	rs4842838-G	0.29	1E-7		0.06	[0.04-0.08] cm decrease	Illumina [420885]	N
1230	chr15	84582123	84582124	rs4842838	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	15q25.2	ADAMTSL3	rs4842838-?	0.32	3E-8		0.06	[0.04-0.07] s.d. decrease	Illumina [229216]	N
1230	chr15	84625765	84625766	rs2011013	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	15q25.2	NR	rs2011013-A	0.731	3E-6	(EA)	0.051	[0.029-0.073] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1231	chr15	84706460	84706461	rs950169	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q25.2	NR	rs950169-C	NR	3E-11		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1231	chr15	84706460	84706461	rs950169	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	15q25.2	ADAMTSL3, GOLGA6L4, ZSCAN2	rs950169-C	0.743	2E-11		1.0834236	[1.06-1.11]	Affymetrix, Illumina [9005918] (imputed)	N
1234	chr15	85088656	85088657	rs3883013	24778558	Domarkiene I	2013-12-01	Balkan J Med Genet	RTN4 and FBXL17 Genes are Associated with Coronary Heart Disease in Genome-Wide Association Analysis of Lithuanian Families.	Coronary heart disease	31 European ancestry cases and 63 European ancestry controls from 32 families	NA	15q25.2	UBE2Q2P1	rs3883013-G	NR	3E-7		29.0	[3.95-212.9]	Illumina [646445]	N
1234	chr15	85187244	85187245	rs34069323	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	15q25.2	WDR73	rs34069323-?	0.01	2E-6	(Age 20-60 years)	6.25	[2.94-14.29]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1235	chr15	85207824	85207825	rs12908161	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q25.2	NR	rs12908161-A	NR	5E-10		1.08	[NR]	Illumina [7158791] (imputed)	N
1235	chr15	85223402	85223403	rs12440825	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	15q25.2	NR	rs12440825-?	NR	1E-6	(Japanese)	0.6862	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1236	chr15	85377014	85377015	rs891288	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	15q25.3	NR	rs891288-?	NR	6E-7	(Japanese)	0.7142	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1236	chr15	85415385	85415386	rs12900463	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)	80 Japanese ancestry cases, 226 Japanese ancestry controls	NA	15q25.3	ALPK3	rs12900463-C	0.115	4E-6	(Recessive model)	2.154	[1.342-3.457]	Illumina [733202]	N
1236	chr15	85430968	85430969	rs3743162	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	15q25.3	ZNF592, ALPK3, SLC28A1	rs3743162-?	NR	9E-6		0.88	unit decrease	Illumina [2543888] (imputed)	N
1236	chr15	85430968	85430969	rs3743162	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	15q25.3	SLC28A1, ZNF592, ALPK3	rs3743162-?	NR	9E-6		0.8828	unit decrease	Illumina [2543888] (imputed)	N
1236	chr15	85435075	85435076	rs7182385	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	15q25.3	SLC28A1	rs7182385-G	0.58	8E-6	(men)	0.094	[0.053-0.135] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1238	chr15	85699206	85699207	rs8040855	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	15q25.3	PDE8A	rs8040855-C	0.634	3E-6		0.035	[0.021-0.049] unit increase	Illumina [6150213] (imputed)	N
1239	chr15	85825566	85825567	rs6496932	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	15q25.3	AKAP13	rs6496932-A	0.2	7E-13		0.11	[0.071-0.149] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1239	chr15	85825566	85825567	rs6496932	20719862	Vitart V	2010-08-18	Hum Mol Genet	New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.	Central corneal thickness	1,445 European ancestry individuals	5,882 European ancestry individuals	15q25.3	PDE8A, AKAP13	rs6496932-C	0.22	1E-8		0.13	[0.09-0.18] unit increase	Illumina [~ 2000000] (imputed)	N
1241	chr15	86067305	86067306	rs6496044	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	15q25.3	NR	rs6496044-G	0.33	2E-6		1.25	[1.15-1.36]	Illumina [439828]	N
1241	chr15	86077188	86077189	rs2279168	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	15q25.3	AKAP13	rs2279168-?		9E-6				NR [~ 3000000] (imputed)	N
1241	chr15	86079114	86079115	rs35343117	25939698	Tsoi LC	2015-05-05	Nat Commun	Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.	Psoriasis	3,994 European ancestry cases, 7,699 European ancestry controls	6,268 European ancestry cases,  14,172 European ancestry controls, 5,033 cases, 5,707 controls	15q25.3	AKAP13	rs35343117-G	0.34	2E-6		1.1	[NR]	Illumina [696365] (imputed)	N
1243	chr15	86369429	86369430	rs7176093	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Aging traits	1,345 individuals from 330 families	NA	15q25.3	KLHL25	rs7176093-?	NR	7E-6	(biologic age)			Affymetrix [70897]	N
1244	chr15	86462851	86462852	rs4262906	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel)	62 Japanese ancestry cases, 42 Japanese ancestry controls	NA	15q25.3	KLHL25	rs4262906-C	0.31	7E-7	(Allelic)	4.36	[2.41-7.89]	Illumina [555600]	N
1244	chr15	86462851	86462852	rs4262906	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)	119 Japanese ancestry cases, 105 Japanese ancestry controls	NA	15q25.3	KLHL25	rs4262906-C	0.35	3E-6	(Allelic)	2.5	[1.71-3.67]	Illumina [555600]	N
1246	chr15	86660719	86660720	rs12914656	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	15q25.3	LOC100129082, AGBL1	rs12914656-C	0.114	2E-6	(Carbohydrate)			Affymetrix [590000]	N
1246	chr15	86660719	86660720	rs12914656	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	15q25.3	LOC100129082, AGBL1	rs12914656-C	0.114	2E-6	(Carbohydrate)			Affymetrix [590000]	N
1247	chr15	86808868	86808869	rs11858486	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	15q25.3	NR	rs11858486-?	NR	4E-6	(Latino)	0.3081	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1247	chr15	86854589	86854590	rs10152811	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	15q25.3	AGBL1	rs10152811-A	0.69	8E-7	(AA-triglyceride response)	18.81	[11.32-26.3] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1247	chr15	86859475	86859476	rs12901001	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	15q25.3	NR	rs12901001-?	NR	6E-6	(Circumference)	0.15	[0.091-0.209] unit increase	Illumina [521744]	N
1248	chr15	86984239	86984240	rs16977195	18347602	Sullivan PF	2008-03-18	Mol Psychiatry	Genomewide association for schizophrenia in the CATIE study: results of stage 1.	Schizophrenia	417 European ancestry cases, 411 European ancestry controls, 217 African American cases, 219 African American controls, 104 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry cases, 103 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry controls	NA	15q25.3	AGBL1	rs16977195-?	0.03	2E-6		6.01	[NR]	Affymetrix [492900]	N
1249	chr15	87053845	87053846	rs2011905	21993531	Kuparinen T	2011-10-13	Genes Immun	Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.	Cytomegalovirus antibody response	1,485 European ancestry sero-postitive individuals, 648 European ancestry sero-negative individuals	NA	15q25.3	AGBL1	rs2011905-C	0.37	2E-6		0.222	[0.13-0.31] unit increase	Illumina [546677]	N
1249	chr15	87064088	87064089	rs12591257	23594818	Ikeda M	2013-04-17	Neuropsychopharmacology	Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia.	Psychosis (methamphetamine induced)	193 East Asian ancestry methamphetamine-dependent cases, 41 East Asian ancestry methamphetamine-dependent controls	NA	15q25.3	KLHL25, AGBL1, LINC00052	rs12591257-A	0.817	4E-6		5.26	[NR]	Affymetrix [244224]	N
1250	chr15	87191976	87191977	rs2469184	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	15q25.3	AGBL1	rs2469184-A	NR	4E-8		0.162	[0.081-0.243] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1251	chr15	87315079	87315080	rs12438353	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Ischemic stroke	up to 1,365 African American cases, up to 13,154 African American controls	European ancestry individuals (see Traylor, 2012)	15q25.3	AGBL1	rs12438353-T	0.5	2E-7	(cohort study, AA)	1.39	[1.23-1.57]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1252	chr15	87436744	87436745	rs17647114	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	15q25.3	AGBL1	rs17647114-T	0.03	4E-7	(Citalopram+Bupropion, Vision/hearing-related side effects)			Affymetrix [421789]	N
1254	chr15	87695510	87695511	rs11636768	21448238	Ligthart L	2011-03-30	Eur J Hum Genet	Meta-analysis of genome-wide association for migraine in six population-based European cohorts.	Migraine	2,116 European ancestry cases, 7,318 European ancestry controls, 330 Dutch founder cases, 1,216 Dutch founder controls	2,957 European ancestry cases, 5,774 European ancestry controls	15q25.3	AGBL1	rs11636768-A	0.15	5E-7		1.248	[NR]	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
1254	chr15	87710065	87710066	rs8024343	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	15q25.3	intergenic	rs8024343-A	0.831	6E-6		0.045	[0.025-0.065] unit decrease	Illumina [6150213] (imputed)	N
1254	chr15	87757777	87757778	rs75676075	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	15q25.3	NR	rs75676075-?	NR	7E-6	(AA)	0.5371	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1256	chr15	87966943	87966944	rs2679084	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	15q25.3	intergenic	rs2679084-T	0.953	1E-6		1.86	[1.44-2.39]	Illumina [8129524] (imputed)	N
1256	chr15	87977475	87977476	rs2679073	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	15q25.3	AGBL1	rs2679073-A	0.99	4E-6	(AA)	1.5	[0.85-2.15] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1261	chr15	88661738	88661739	rs9806762	22388998	Zhang CK	2012-01-19	Am J Hematol	Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.	Gaucher disease severity	139 Ashkenazi Jewish cases	NA	15q25.3	NTRK3	rs9806762-?	NR	7E-6				Illumina [540902]	N
1261	chr15	88723711	88723712	rs1104918	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	15q25.3	NTRK3	rs1104918-T		6E-6	(Modelling analysis)	1.07	[1.04-1.10]	NR [1252901] (imputed)	N
1262	chr15	88758573	88758574	rs146797905	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q25.3	NR	rs146797905-A	NR	4E-7		1.15	[NR]	Illumina [7158791] (imputed)	N
1263	chr15	88871161	88871162	rs62024303	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	15q25.3	NR	rs62024303-?	NR	3E-7	(Latino)	1.2385	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1264	chr15	89042466	89042467	rs12915845	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	15q25.3	DET1	rs12915845-C	0.58	3E-12		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1264	chr15	89119103	89119104	rs17776563	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	15q26.1	MIR1179	rs17776563-A	0.322	6E-7	(TSH - Males)	0.069	[0.042-0.096] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1264	chr15	89119103	89119104	rs17776563	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	15q26.1	MIR1179	rs17776563-A	0.322	3E-10	(TSH)	0.06	[0.04-0.08] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1265	chr15	89245238	89245239	rs4932194	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	15q26.1	ISG20	rs4932194-?	0.69	8E-7		1.22	[1.12-1.3]	Illumina [234939]	N
1265	chr15	89249138	89249139	rs8027587	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q26.1	ISG20	rs8027587-G	0.48	5E-6	(SBP )	0.03	[NR] mmHg increase	Illumina [899892]	N
1266	chr15	89359688	89359689	rs8041863	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	15q26.1	ACAN	rs8041863-A	0.47	8E-8		0.04	[0.01-0.06] s.d. increase (males)	Affymetrix [402951]	N
1266	chr15	89388904	89388905	rs16942341	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q26.1	ACAN	rs16942341-T	0.03	4E-27		0.13	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1267	chr15	89395625	89395626	rs2280470	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	15q26.1	ACAN	rs2280470-A	0.333	3E-44		0.044	[0.038-0.050] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1267	chr15	89395625	89395626	rs2280470	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	15q26.1	ACAN	rs2280470-A	0.36	6E-9		0.053	[0.035-0.071] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
1267	chr15	89395625	89395626	rs2280470	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	15q26.1	ACAN	rs2280470-A	0.33	1E-15		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1267	chr15	89395625	89395626	rs2280470	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q26.1	ACAN	rs2280470-?	NR	1E-14	(Conditioned on rs16942341)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1267	chr15	89398104	89398105	rs2351491	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	15q26.1	ACAN	rs2351491-T	0.25	2E-9		0.057	[0.037-0.077] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
1267	chr15	89412278	89412279	rs8042988	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Height	2,754 Bangladeshi ancestry females, 2,590 Bangladeshi ancestry males	NA	15q26.1	ACAN	rs8042988-A	0.621	4E-7		0.006	[0.0040-0.0080] m increase	Illumina [1208102] (imputed)	N
1267	chr15	89415246	89415247	rs3817428	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	15q26.1	ACAN	rs3817428-C	0.89	9E-11		0.046	[0.026-0.066] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1268	chr15	89617080	89617081	rs420017	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q26.1	ABHD2	rs420017-A	0.336	8E-6	(BMR )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1268	chr15	89617080	89617081	rs420017	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	15q26.1	intergenic	rs420017-T	0.21	7E-6		0.043	[0.023-0.063] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
1270	chr15	89851579	89851580	rs2238300	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	15q26.1	FANCI	rs2238300-A	0.396	2E-12		0.021	[0.015-0.027] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1270	chr15	89863927	89863928	rs2307449	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	15q26.1	POLG	rs2307449-G	0.405	4E-13		0.184	[0.14-0.23] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
1270	chr15	89899623	89899624	rs12595305	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q26.1	NR	rs12595305-T	NR	4E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1270	chr15	89902031	89902032	rs4932217	18193045	Sanna S	2008-01-13	Nat Genet	Common variants in the GDF5-UQCC region are associated with variation in human height.	Height	1,084 European ancestry cases, 1,287 European ancestry controls, 4,298 European individuals	23,684 European ancestry individuals, 3,860 African American individuals	15q26.1	POLG	rs4932217-A	0.58	8E-7		0.66	[NR] cm increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1272	chr15	90089275	90089276	rs8038108	24825563	McDonald ML	2014-05-13	Am J Respir Cell Mol Biol	Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease.	Resting oxygen saturation in chronic osbtructive pulmonary disease (pulse oxymetry)	820 African American cases	4,568 European ancestry cases	15q26.1	LINC00928, TICRR	rs8038108-C	0.048	5E-9	(AA)	0.009	[0.006-0.013] unit decrease	Illumina [6160662] (imputed)	N
1272	chr15	90168107	90168108	rs894157	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q26.1	C15orf42	rs894157-G	0.273	9E-6	(IGF1 free )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1274	chr15	90345334	90345335	rs2007084	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	15q26.1	ANPEP	rs2007084-A	0.09	2E-12	(HWESASXX)	0.068	[0.048-0.088] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1274	chr15	90374256	90374257	rs2028299	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	15q26.1	AP3S2	rs2028299-C	0.29	5E-7		1.04	[1.00-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
1274	chr15	90374256	90374257	rs2028299	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	15q26.1	AP3S2	rs2028299-C	0.23	3E-6		1.13	[1.07-1.19]	Illumina [6209637] (imputed)	N
1274	chr15	90374256	90374257	rs2028299	21874001	Kooner JS	2011-08-28	Nat Genet	Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.	Type 2 diabetes	5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls	13,170 South Asian ancestry cases, 25,398 South Asian ancestry controls	15q26.1	AP3S2	rs2028299-C	0.31	2E-11		1.1	[1.07-1.13]	Illumina [568976]	N
1275	chr15	90447945	90447946	rs7178909	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	15q26.1	NR	rs7178909-?	NR	5E-7	(optimism)			Illumina [535076]	N
1276	chr15	90630891	90630892	rs9972327	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	15q26.1	IDH2	rs9972327-?		6E-6		0.4	[NR] unit decrease	Illumina [5970354] (imputed)	N
1278	chr15	90893667	90893668	rs6496667	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	15q26.1	ZNF774	rs6496667-A	0.35	1E-6		1.09	[1.05-1.13]	Affymetrix, Illumina [1948139]	N
1280	chr15	91114375	91114376	rs12915189	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	15q26.1	CRTC3	rs12915189-A	0.29	3E-6	(inspection time)	0.14	[0.08-0.20] unit increase	Illumina [~ 610000]	N
1280	chr15	91172900	91172901	rs7495132	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	15q26.1	CRTC3	rs7495132-C	0.891	9E-11		1.134	[1.082-1.189]	Affymetrix, Illumina [1230000] (imputed)	N
1280	chr15	91181488	91181489	rs7165170	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	15q26.1	NR	rs7165170-A	0.82	4E-7	(EA)	1.0670352		Affymetrix, Illumina [~ 9000000] (imputed)	N
1280	chr15	91181488	91181489	rs7165170	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	15q26.1	NR	rs7165170-C	0.82	7E-7	(EA)	1.0798767		Affymetrix, Illumina [~ 9000000] (imputed)	N
1282	chr15	91387378	91387379	rs74874915	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q26.1	intergenic	rs74874915-A	0.127	1E-6		2.55	[1.72-3.76]	Illumina [1556551]	N
1282	chr15	91426559	91426560	rs4702	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q26.1	NR	rs4702-G	NR	3E-12		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1282	chr15	91426559	91426560	rs4702	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	15q26.1	FES, FURIN, MAN2A2	rs4702-G	0.438	8E-14		1.0845987	[1.06-1.11]	Affymetrix, Illumina [9005918] (imputed)	N
1282	chr15	91437387	91437388	rs2521501	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	15q26.1	FURIN, FES	rs2521501-T	0.31	5E-19		0.65	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1282	chr15	91437387	91437388	rs2521501	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	15q26.1	FURIN, FES	rs2521501-T	0.31	7E-7		0.059	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1282	chr15	91437387	91437388	rs2521501	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	15q26.1	FURIN, FES	rs2521501-T	0.31	2E-15		0.359	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1282	chr15	91437387	91437388	rs2521501	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	15q26.1	FES	rs2521501-T	0.37	3E-8	(Mean Arterial Pressure)	0.344	[0.22-0.46] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1282	chr15	91450440	91450441	rs2677744	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	15q26.1	MAN2A2	rs2677744-?	NR	1E-6				Affymetrix [504219]	N
1283	chr15	91512066	91512067	rs2290203	25038754	Cai Q	2014-07-20	Nat Genet	Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.	Breast cancer	2,867 Chinese ancestry cases, 2,285 Chinese ancestry controls, 2,246 Korean ancestry cases, 2,052 Korean ancestry controls	5,029 Chinese ancestry cases, 5,302 Chinese ancestry controls, 6,066 Korean ancestry cases, 8,003 Korean ancestry controls, 6,572 Japanese ancestry cases, 6,539 Japanese ancestry controls, 16,003 European ancestry cases, 41,335 European ancestry controls	15q26.1	PRC1	rs2290203-G	0.504	4E-8	(East Asian)	1.08	[1.05-1.11]	Affymetrix [up to 1930412] (imputed)	N
1283	chr15	91521336	91521337	rs8042680	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	15q26.1	PRC1	rs8042680-A		2E-10		1.07	[1.05-1.09]	Affymetrix, Illumina [2426886] (imputed)	N
1283	chr15	91544075	91544076	rs12899811	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	15q26.1	PRC1	rs12899811-G	0.3	6E-7		1.09	[1.04-1.13]	Affymetrix, Illumina [2500000] (imputed)	N
1284	chr15	91717351	91717352	rs886144	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	15q26.1	SV2B	rs886144-?	0.38	2E-7	(SM)			Affymetrix [187454]	N
1285	chr15	91816342	91816343	rs61680841	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	15q26.1	SV2B	rs61680841-?		6E-6	(PC2)	0.0964	[NR] unit decrease	Illumina [4167292] (imputed)	N
1288	chr15	92211773	92211774	rs7164176	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	15q26.1	intergenic	rs7164176-?	0.43	5E-7	(CHAQ, RF-)	0.28	[NR] unit decrease	Illumina [534053]	N
1290	chr15	92445872	92445873	rs3924426	18521091	Volpi S	2008-06-03	Mol Psychiatry	Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.	Response to iloperidone treatment (QT prolongation)	91 African American Schizophrenia cases, 69 European ancestry Schizophrenia cases, 16 Asian ancestry Schizophrenia cases, 7 Schizophrenia cases	NA	15q26.1	SLCO3A1	rs3924426-T	NR	2E-6				Affymetrix [339272]	N
1291	chr15	92542830	92542831	rs8037790	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	15q26.1	SLCO3A1	rs8037790-A	0.2296	5E-6	(Case/control)	0.4495	[0.26-0.64] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1291	chr15	92542830	92542831	rs8037790	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	15q26.1	SLCO3A1	rs8037790-A	0.23	7E-6	(Complete)	0.443	[0.25-0.64] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1291	chr15	92552028	92552029	rs7495052	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	15q26.1	SLCO3A1	rs7495052-?	NR	3E-6	(binary)			Perlegen [429981]	N
1291	chr15	92657372	92657373	rs207954	22076464	Ellinghaus E	2011-11-11	Leukemia	Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	419 European ancestry ETV6-RUNX1 positive cases, 474 European ancestry controls	951 European ancestry ETV6-RUNX1 positive cases, 326 European ancestry ETV6-RUNX1 negative cases, 3,061 European ancestry controls	15q26.1	SLCO3A1	rs207954-C	0.72	1E-6	(ETV6-RUNX1 positive)	1.25	[1.08-1.43]	Affymetrix [355750]	N
1292	chr15	92685777	92685778	rs2238355	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q26.1	SLCO3A1	rs2238355-A	0.435	8E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1292	chr15	92705030	92705031	rs2238341	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	15q26.1	NR	rs2238341-G	0.239	5E-6		0.145	[0.082-0.208] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1292	chr15	92731658	92731659	rs11074046	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	15q26.1	NR	rs11074046-?	NR	2E-6	(Japanese)	0.4693	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1293	chr15	92806290	92806291	rs4304977	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	15q26.1	SLCO3A1, ST8SIA1	rs4304977-A	0.46	5E-6	(IGF2-DMR)			Illumina [515966]	N
1293	chr15	92858100	92858101	rs12912184	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	15q26.1	ST8SIA2, SLCO3A1	rs12912184-?		9E-8	(females)			Illumina [1211988] (imputed)	N
1293	chr15	92859880	92859881	rs1871438	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	15q26.1	NPM1P5, ST8SIA2	rs1871438-?	0.51-0.56	8E-7	(Red meat)	1.11	[1.07-1.16]	Affymetrix, Illumina [> 2700000] (imputed)	N
1293	chr15	92883839	92883840	rs12905014	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	15q26.1	ST8SIA2	rs12905014-?	0.05	4E-7	(FEV1 65%)	1.7544	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
1294	chr15	92930410	92930411	rs17702901	23643386	Hatoum IJ	2013-05-02	Am J Hum Genet	Weight loss after gastric bypass is associated with a variant at 15q26.1.	Weight loss (gastric bypass surgery)	693 European ancestry individuals	327 European ancestry individuals	15q26.1	ST8SIA2	rs17702901-A	NR	7E-8		6.64	[4.23-9.05] unit decrease	Illumina [1943170] (imputed)	N
1294	chr15	92995640	92995641	rs1352323	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	15q26.1	ST8SIA2	rs1352323-?	NR	7E-7	(Latino)	1.47	[1.32-1.63]	Affymetrix, Illumina [NR] (imputed)	N
1294	chr15	92995640	92995641	rs1352323	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	15q26.1	ST8SIA2	rs1352323-?	NR	1E-7		1.33	[1.23-1.44]	Affymetrix, Illumina [NR] (imputed)	N
1294	chr15	93044338	93044339	rs8040009	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (heaviness of drinking)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	15q26.1	C15orf32	rs8040009-T	0.21	3E-7		0.123	[NR] unit decrease	Illumina [~ 300000]	N
1294	chr15	93044338	93044339	rs8040009	20386566	Lee MT	2010-04-13	Mol Psychiatry	Genome-wide association study of bipolar I disorder in the Han Chinese population.	Bipolar I disorder	1,000 Han Chinese ancestry cases, 1,000 Han Chinese ancestry controls	409 Han Chinese ancestry cases, 1,000 Han Chinese ancestry controls	15q26.1	ST8SIA2, C15orf32	rs8040009-C	0.11	6E-6		1.4	[1.21-1.61]	Illumina [516919]	N
1294	chr15	93046635	93046636	rs11635085	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	15q26.1	C15orf32	rs11635085-G	0.107	6E-7	(Casein)	0.3	[NR] unit decrease	Illumina [944565] (imputed)	N
1294	chr15	93050965	93050966	rs1455782	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	15q26.1	FLJ32831	rs1455782-?	NR	4E-6	(ppFVC)			Affymetrix [70897]	N
1295	chr15	93131631	93131632	rs2173063	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	15q26.1	LOC400451	rs2173063-A	0.06	3E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1295	chr15	93179174	93179175	rs285757	21160409	Petrovski S	2010-12-14	AIDS	Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.	HIV-1 susceptibility	531 Sub-Saharan African ancestry cases, 848 Sub-Saharan African ancestry controls	NA	15q26.1	FAM174B	rs285757-?	0.15	7E-6				Illumina [~ 800000]	N
1297	chr15	93429645	93429646	rs1439620	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q26.1	LOC100507217	rs1439620-A	0.333	1E-6		0.015	[0.0091-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1297	chr15	93429645	93429646	rs1439620	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q26.1	LOC100507217	rs1439620-A	0.33	2E-6	(EA)	0.016	[0.0093-0.0223] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1298	chr15	93480462	93480463	rs78177980	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	15q26.1	NR	rs78177980-G	NR	8E-6		1.1235955	[NR]	Illumina [7158791] (imputed)	N
1298	chr15	93564971	93564972	rs7179432	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q26.1	NR	rs7179432-C	0.455903207978485	4E-6	(IGP51)	0.1569	[0.09-0.224] unit decrease	Illumina [~ 2500000] (imputed)	N
1299	chr15	93638400	93638401	rs7168353	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy)	394 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	15q26.1	RGMA	rs7168353-C	NR	1E-6	(AA)			Affymetrix [~ 2300000] (imputed)	N
1299	chr15	93713665	93713666	rs6497031	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	15q26.1	RGMA	rs6497031-A	0.17	5E-6	(Age 20-60 years)	1.84	[1.41 - 2.39]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1300	chr15	93815128	93815129	rs17612678	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q26.1	UNQ9370	rs17612678-G	0.275	5E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1301	chr15	93877424	93877425	rs4777845	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	15q26.1	NR	rs4777845-T	NR	9E-6		0.064	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1301	chr15	93889458	93889459	rs17541406	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	15q26.1	MCTP2, SEPHS1P2	rs17541406-?	NR	1E-6				NR [up to 8466825] (imputed)	N
1301	chr15	93903596	93903597	rs936674	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	15q26.1	RP11-266O8.1	rs936674-?	NR	5E-6		1.36	[0.77-1.95] unit decrease	Illumina [1075436] (imputed)	N
1302	chr15	94036687	94036688	rs7175404	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	15q26.1	AK094352	rs7175404-?	NR	6E-7				Affymetrix [504219]	N
1303	chr15	94141832	94141833	rs12437854	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	15q26.1	MCTP2, RGMA	rs12437854-G	0.04	2E-9	(ESRD vs. non-ESRD)	1.8	[1.48-2.17]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1304	chr15	94271227	94271228	rs7173064	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	15q26.1	MCTP2	rs7173064-C	0.47	4E-7	(AA)			Affymetrix, Illumina [14227402] (imputed)	N
1306	chr15	94581941	94581942	rs12101726	25133637	Scannell Bryan M	2014-08-18	PLoS One	Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.	Overweight status	531 Bangladeshi ancestry overweight females, 1,269 Bangladeshi ancestry normal weight females, 338 Bangladeshi ancestry overweight males, 1,106 Bangladeshi ancestry normal weight males	NA	15q26.2	RGMA, MCTP2	rs12101726-C	0.195	2E-7	(males)	0.101	[0.064-0.138] unit increase	Illumina [1208102] (imputed)	N
1307	chr15	94689652	94689653	rs2388436	21302353	Perroud N	2010-12-28	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of hoarding traits.	Hoarding	3,304 European ancestry individuals	NA	15q26.2	intergenic	rs2388436-G	0.42	6E-6		0.51	[NR] unit increase	Illumina [1517033] (imputed)	N
1307	chr15	94707072	94707073	rs12910412	25241909	Lee JH	2014-09-21	Respir Res	Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Chronic bronchitis and chronic obstructive pulmonary disease	up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls	NA	15q26.2	MCTP2	rs12910412-G	0.46	5E-7	(EA)	1.3	[1.17-1.44]	Illumina [NR] (imputed)	N
1308	chr15	94872685	94872686	rs8033195	25625606	Mather KA	2015-01-27	PLoS One	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia.	Hippocampal volume	498 European ancestry older adult individuals	NA	15q26.2	MCTP2	rs8033195-A		5E-7		174.53	[106.73-242.33] unit increase	Affymetrix, Illumina [at least 646791] (imputed)	N
1309	chr15	94939507	94939508	rs4984390	19483685	Daly AK	2009-05-31	Nat Genet	HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.	Drug-induced liver injury (flucloxacillin)	58 European ancestry cases, 282 European ancestry controls	NA	15q26.2	MCTP2	rs4984390-?	0.41	4E-6		3.27	[NR]	Illumina [866399]	N
1311	chr15	95165579	95165580	rs1014922	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	15q26.2	MCTP2	rs1014922-?	0.10	3E-6	(Recessive)	1.36	[1.20-1.55]	Affymetrix [319222]	N
1311	chr15	95268493	95268494	rs4984406	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q26.2	MCTP2	rs4984406-T	0.514	8E-8		0.016	[0.0099-0.0213] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1311	chr15	95268493	95268494	rs4984406	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q26.2	MCTP2	rs4984406-T	0.512	2E-7	(EA)	0.016	[0.0098-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1311	chr15	95268493	95268494	rs4984406	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	15q26.2	MCTP2	rs4984406-T	0.511	1E-6	(EA, women)	0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1311	chr15	95270466	95270467	rs7173947	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	15q26.2	intergenic	rs7173947-C	0.29	3E-8	(ALP)	0.105	[0.068-0.142] unit decrease	Illumina [561583]	N
1311	chr15	95275916	95275917	rs62018380	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	15q26.2	MCTP2	rs62018380-C	0.869	2E-9		0.047	[0.032-0.062] unit increase	Illumina [7428049] (imputed)	N
1312	chr15	95318585	95318586	rs17664713	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (rapamycin)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	15q26.2	MCTP2	rs17664713-?	NR	5E-6		0.28	[NR] unit decrease	Affymetrix, Illumina [1348798]	N
1312	chr15	95318766	95318767	rs16949516	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		15q26.2	MCTP2	rs16949516-T	NR	4E-6		0.2015	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1313	chr15	95511836	95511837	rs6496074	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	15q26.2	MCTP2	rs6496074-?	NR	3E-6	(TrailsB)			Illumina [up to 563855]	N
1314	chr15	95615785	95615786	rs291028	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	15q26.2	LOC400456	rs291028-?	NR	5E-6	(Response)	1.64	[NR]	Illumina [~ 7000000] (imputed)	N
1317	chr15	96014142	96014143	rs7170668	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	15q26.2	NR2F2	rs7170668-T	0.632	1E-10		0.035	[0.024-0.045] unit increase	Illumina [7428049] (imputed)	N
1317	chr15	96052741	96052742	rs933769	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol dependence factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	15q26.2	intergenic	rs933769-T	0.19	7E-6		0.097	[NR] unit decrease	Illumina [~ 300000]	N
1318	chr15	96141866	96141867	rs10520789	22569225	Krintel SB	2012-05-06	Pharmacogenet Genomics	Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis.	Response to TNF-alpha inhibitors in rheumatoid arthritis	196 European ancestry cases	NA	15q26.2	NR2F2	rs10520789-?	NR	6E-7	(Change in DAS28)			Illumina [486450]	N
1318	chr15	96156367	96156368	rs4321143	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	15q26.2	intergenic	rs4321143-G	0.28	7E-6	(int, MC)	1.13	[NR] unit increase	Perlegen [429901]	N
1319	chr15	96332860	96332861	rs2567426	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	15q26.2	AC015574.1	rs2567426-A	0.33	3E-6	(digit symbol)	0.13	[0.07-0.19] unit increase	Illumina [~ 610000]	N
1320	chr15	96372628	96372629	rs744738	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q26.2	LOC644192	rs744738-A	0.144	6E-6	(TNF-a )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1322	chr15	96647792	96647793	rs4984499	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	15q26.2	intergenic	rs4984499-T	0.35	8E-6		1.06	[1.03-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1322	chr15	96708290	96708291	rs8023580	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	15q26.2	NR2F2	rs8023580-T	0.72	8E-8	(Women)	0.038	[0.024-0.052] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1322	chr15	96708290	96708291	rs8023580	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	15q26.2	NR2F2	rs8023580-T	0.72	8E-12	(Men + Women)	0.03	[0.021-0.039] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1322	chr15	96708290	96708291	rs8023580	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	15q26.2	NR2F2	rs8023580-T	0.72	5E-6	(Men)	0.025	[0.014-0.036] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
1322	chr15	96719228	96719229	rs8034595	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	15q26.2	NR2F2	rs8034595-A	0.28	3E-8		0.026	[0.016-0.036] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
1323	chr15	96741419	96741420	rs9806400	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	15q26.2	LOC145820, NR2F2	rs9806400-?		2E-7	(IFN gamma response)			Illumina [NR]	N
1323	chr15	96809781	96809782	rs1437588	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	15q26.2	intergenic	rs1437588-?	0.52	3E-6		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1323	chr15	96830549	96830550	rs2398162	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Hypertension	1,952 European ancestry cases, 2,938 European ancestry controls	NA	15q26.2	intergenic	rs2398162-A	0.74	6E-6		1.31	[1.03-1.67]	Affymetrix [469557]	N
1323	chr15	96844726	96844727	rs7181753	22554406	Kang SJ	2012-05-03	Genes Brain Behav	Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6.	Electroencephalographic traits in alcoholism	1,560 European ancestry individuals from 117 families	NA	15q26.2	intergenic	rs7181753-T	0.199	3E-6		0.128	[NR] unit increase	Illumina [634583]	N
1324	chr15	96959854	96959855	rs7174156	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	15q26.2	NR	rs7174156-A	NR	7E-6	(phenotype 2)	1.6	[NR]	Illumina [> 8000000] (imputed)	N
1324	chr15	96975867	96975868	rs2118405	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	15q26.2	NR2F2	rs2118405-T	NR	2E-6		4.782	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1325	chr15	97002652	97002653	rs11637980	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	15q26.2	NR2F2	rs11637980-?	NR	2E-6	(rs1447295)	1.4706	[1.27-1.72]	Affymetrix, Illumina [1117531] (imputed)	N
1325	chr15	97018732	97018733	rs113154706	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	15q26.2	intergenic	rs113154706-?	NR	7E-6	(SF5)			Affymetrix [5476100] (imputed)	N
1327	chr15	97262426	97262427	rs4533251	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	15q26.2	SPATA8	rs4533251-T	0.15	4E-6				Perlegen [378332]	N
1328	chr15	97454879	97454880	rs60283548	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	15q26.2	7SK, SPATA8	rs60283548-C	NR	4E-8		0.1327	[NR] unit decrease	Illumina [11892802] (imputed)	N
1329	chr15	97607680	97607681	rs8023715	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	15q26.2	SPATA8	rs8023715-A	0.075	1E-8		1.812	[1.638-2.00]	Illumina [NR]	N
1330	chr15	97750334	97750335	rs1513859	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	15q26.2	SPATA8	rs1513859-G	0.011	7E-6	(Vitamin B12 )	0.03	[NR] pmol/L increase	Illumina [899892]	N
1336	chr15	98518791	98518792	rs4965121	20634892	Calboli FC	2010-07-09	PLoS One	A genome-wide association study of neuroticism in a population-based sample.	Neuroticism	2,235 European ancestry individuals	NA	15q26.2	ARRDC4	rs4965121-?	0.38	1E-6	(main effect)	0.84	[0.51-1.17] unit decrease	Affymetrix [1705237] (imputed)	N
1337	chr15	98606312	98606313	rs1993976	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	15q26.3	ARRDC4	rs1993976-A	0.39	8E-7	(univariate, arm)			Illumina [319818]	N
1338	chr15	98712451	98712452	rs62024995	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	15q26.3	LOC101927332	rs62024995-C	0.75	6E-8	(Hispanic)			Affymetrix, Illumina [14227402] (imputed)	N
1338	chr15	98764846	98764847	rs1442808	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	15q26.3	LOC728459, FAM169B	rs1442808-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1339	chr15	98876028	98876029	rs970843	21935397	Paternoster L	2011-09-15	PLoS One	Genome-wide population-based association study of extremely overweight young adults--the GOYA study.	Obesity (extreme)	2,633 European ancestry extremely obese adult cases, 2,740 European ancestry controls	29,181 European ancestry individuals	15q26.3	FLJ39743	rs970843-C	NR	5E-6				Illumina [545349]	N
1340	chr15	99072904	99072905	rs12719740	22354554	Thompson SD	2012-02-21	Arthritis Rheum	Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.	Arthritis (juvenile idiopathic)	814 European ancestry cases, 658 European ancestry controls, 2,400 controls	1,744 European ancestry cases, 7,010 European ancestry controls	15q26.3	FAM169B, IGF1R	rs12719740-T	0.18	7E-7		1.15	[1.06-1.25]	Affymetrix [561137]	N
1341	chr15	99161451	99161452	rs8035887	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	15q26.3	NR	rs8035887-?	NR	4E-7	(EA)	0.6866	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1341	chr15	99194895	99194896	rs2871865	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	15q26.3	IGF1R	rs2871865-C	0.92	6E-23		0.085	[0.061-0.109] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1341	chr15	99194895	99194896	rs2871865	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q26.3	IGF1R	rs2871865-C	0.88	3E-21		0.057	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1342	chr15	99258709	99258710	rs2018860	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	15q26.3	IGF1R	rs2018860-?	NR	3E-8		0.031	[0.019-0.043] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
1342	chr15	99271134	99271135	rs6598541	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	15q26.3	IGF1R	rs6598541-A	0.36	5E-15		0.043	[0.031-0.055] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1347	chr15	99995883	99995884	rs28479400	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	15q26.3	intergenic	rs28479400-G	0.9494	2E-6	(Case/control)	0.7864	[0.46-1.11] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1350	chr15	100297662	100297663	rs1993293	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	15q26.3	LYSMD4	rs1993293-A	0.73	4E-6	(AA)	0.17	[0.092-0.248] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1350	chr15	100299238	100299239	rs6598266	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	15q26.3	LYSMD4, C15orf51	rs6598266-A	0.1427493	3E-6	(% improvement - SSRI treated - 12 weeks)	0.2543	[0.15-0.36] unit increase	Affymetrix, Illumina [1200000] (imputed)	N
1350	chr15	100357434	100357435	rs1823874	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	15q26.3	NR	rs1823874-C	0.428499305840392	3E-6	(IGP33)	0.1478	[0.086-0.209] unit increase	Illumina [~ 2500000] (imputed)	N
1351	chr15	100511003	100511004	rs9328573	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	15q26.3	ADAMTS17	rs9328573-G	0.48	9E-6		0.053	[0.029-0.077] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1351	chr15	100513157	100513158	rs2573625	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	15q26.3	ADAMTS17	rs2573625-T	0.672	6E-20		0.029	[0.023-0.035] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1351	chr15	100514613	100514614	rs2573652	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	15q26.3	ADAMTS17	rs2573652-T	0.44	1E-13		0.036	[0.024-0.048] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1353	chr15	100728662	100728663	rs2086452	23727862	Savage SA	2013-06-02	Nat Genet	Genome-wide association study identifies two susceptibility loci for osteosarcoma.	Osteosarcoma	694 European ancestry cases, 2,703 European ancestry controls	247 European ancestry cases, 550 European ancestry controls	15q26.3	ADAMTS17	rs2086452-C	NR	1E-6		1.35	[1.19-1.52]	Illumina [698968]	N
1353	chr15	100758384	100758385	rs4965593	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	15q26.3	ADAMTS17	rs4965593-C	0.32	7E-10		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1353	chr15	100759613	100759614	rs4965598	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	15q26.3	ADAMTS17	rs4965598-T	0.68	4E-13		0.028	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1353	chr15	100786270	100786271	rs4533267	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	15q26.3	ADAMTS17	rs4533267-A	0.28	3E-8		5.6	[3.64-7.56] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1356	chr15	101073443	101073444	rs80332023	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	15q26.3	CERS3, LASS3	rs80332023-C	NR	3E-8		0.12	[NR] unit decrease	Illumina [11892802] (imputed)	N
1357	chr15	101197004	101197005	rs11247230	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	15q26.3	ASB7	rs11247230-G	0.34	3E-6	(EA)	0.014	[0.0081-0.0199] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1357	chr15	101197004	101197005	rs11247230	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	15q26.3	ASB7	rs11247230-G	0.34	1E-8		0.014	[0.0081-0.0199] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1357	chr15	101251718	101251719	rs184234	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	15q26.3	ASB7	rs184234-?	NR	1E-6				Affymetrix, Illumina [~ 1300000]	N
1359	chr15	101558561	101558562	rs930847	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	15q26.3	LRRK1	rs930847-T	0.77	6E-19		0.11	[0.071-0.149] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1361	chr15	101721891	101721892	rs12593811	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		15q26.3	NR	rs12593811-T		7E-6		0.226	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1361	chr15	101781933	101781934	rs752092	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	15q26.3	CHSY1	rs752092-A	0.66	2E-9		0.08	[0.06-0.1] unit decrease	Affymetrix, Illumina [~ 1000000] (imputed)	N
1362	chr15	101865471	101865472	rs7182874	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	15q26.3	VIMP, LOC100507472, PCSK6, CHSY1, SNRPA1	rs7182874-T	0.71	9E-9		0.37	[0.24-0.50] unit decrease	Illumina [2095209]	N
1362	chr15	101875122	101875123	rs11855415	21051773	Scerri TS	2010-11-09	Hum Mol Genet	PCSK6 is associated with handedness in individuals with dyslexia.	Handedness in dyslexia	192 individuals	573 European ancestry individuals	15q26.3	PCSK6	rs11855415-A	0.25	2E-8		0.35	[0.23-0.47] SD increase	Illumina [~ 2000000] (imputed)	N
586	chr16	163597	163598	rs11248850	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	16p13.3	NPRL3, KIF22	rs11248850-G	0.5	6E-23	(EA, MCH)	0.007	[-0.00084-0.01484] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
586	chr16	184389	184390	rs7203560	23406172	Milton JN	2013-02-14	Br J Haematol	Genetic determinants of haemolysis in sickle cell anaemia.	Sickle cell anemia (haemolysis)	1,117 individuals	213 African ancestry, West African ancestry and Afro-Caribbean individuals, 745 individuals	16p13.3	NPRL3	rs7203560-C	0.07	2E-9		0.44	[0.30-0.58] unit decrease	Illumina [569554]	N
586	chr16	184389	184390	rs7203560	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	16p13.3	Alpha-globin cluster	rs7203560-G	0.06801	8E-43	(AA)	2.555	[2.19-2.92] unit decrease	Illumina [544917]	N
586	chr16	184389	184390	rs7203560	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin concentration	7,943 African American children, 6,234 European ancestry children	NA	16p13.3	Alpha-globin cluster	rs7203560-G	0.06801	1E-33	(AA)	0.5311	[0.45-0.62] unit decrease	Illumina [544917]	N
586	chr16	184389	184390	rs7203560	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	16p13.3	Alpha-globin cluster	rs7203560-G	0.06801	5E-62	(AA)	1.255	[1.11-1.4] unit decrease	Illumina [544917]	N
586	chr16	184389	184390	rs7203560	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	16p13.3	Alpha-globin cluster	rs7203560-G	0.06801	2E-8	(AA, HGB)	0.199	[0.13-0.27] unit decrease	Illumina [544917]	N
586	chr16	184389	184390	rs7203560	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	16p13.3	Alpha-globin cluster	rs7203560-G	0.06801	2E-23	(AA, RBC)	0.1452	[0.12-0.17] unit increase	Illumina [544917]	N
586	chr16	225652	225653	rs2858942	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	16p13.3	RGS11, ITFG3, HBA2, HBA1, LUC7L	rs2858942-A	0.46	3E-9		0.069	[0.045-0.093] unit decrease	Illumina [561583]	N
586	chr16	240279	240280	rs1211375	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	16p13.3	Alpha-globin cluster	rs1211375-A	NR	1E-16		0.5254	[0.4-0.65] unit decrease	Illumina [544917]	N
586	chr16	240279	240280	rs1211375	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	16p13.3	Alpha-globin cluster	rs1211375-A	NR	3E-17		0.2115	[0.16-0.26] unit decrease	Illumina [544917]	N
586	chr16	240279	240280	rs1211375	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	16p13.3	Alpha-globin cluster	rs1211375-A	NR	7E-14	(RBC)	0.0423	[0.031-0.053] unit increase	Illumina [544917]	N
587	chr16	298587	298588	rs13339636	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	16p13.3	ITFG3, POLR3K, NPRL3, MPG, NME4, LUCL7, DECR, RPL2B	rs13339636-G	0.132	2E-34	(MCH, AA)	0.6847	[0.58-0.79] pg decrease	Affymetrix, Illumina [NR]	N
587	chr16	304802	304803	rs7189020	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	16p13.3	ITFG3	rs7189020-T	NR	2E-12		0.0	[0.002-0.004] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
587	chr16	309154	309155	rs1122794	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	16p13.3	ITFG3	rs1122794-A	0.1984	1E-8	(MCHC)	0.1598	[0.10-0.22] d/dL increase	Affymetrix, Illumina [NR]	N
587	chr16	309154	309155	rs1122794	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	16p13.3	ITFG3	rs1122794-A	0.1955	7E-6	(MCH)	0.2281	[0.13-0.33] pg increase	Affymetrix, Illumina [NR]	N
587	chr16	309154	309155	rs1122794	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	16p13.3	ITFG3	rs1122794-A	NR	3E-10		0.0	[0.003-0.006] pg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
587	chr16	310379	310380	rs13335629	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	16p13.3	ITFG3, RHOT2, LMF1, WDR90, POLR3K, NPRL3, MPG, NME4, LUCL7, DECR, RPL2B	rs13335629-A	0.134	4E-22	(MCV, AA)	0.648	[0.52-0.78] fL decrease	Affymetrix, Illumina [NR]	N
587	chr16	310379	310380	rs13335629	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	16p13.3	ITFG3, POLR3K, NPRL3, MPG, NME4, LUCL7, DECR, RPL2B	rs13335629-A	0.117	9E-48	(MCHC, AA)	0.3298	[0.29-0.37] g/dL decrease	Affymetrix, Illumina [NR]	N
587	chr16	310379	310380	rs13335629	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	16p13.3	ITFG3, POLR3K, NPRL3, MPG, LUCL7, RPL2B	rs13335629-A	0.12	3E-23	(Hgb, AA)	0.19	[0.15-0.23] g/dL decrease	Affymetrix, Illumina [NR]	N
587	chr16	310379	310380	rs13335629	23446634	Chen Z	2013-02-26	Hum Mol Genet	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Red blood cell traits	Up to 16,485 African American individuals	9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals	16p13.3	ITFG3, LUCL7	rs13335629-A	0.12	7E-24	(RBC, AA)	0.1699	[0.14-0.20] x10^6/uL, increase	Affymetrix, Illumina [NR]	N
587	chr16	314779	314780	rs9924561	23696099	Ding K	2013-05-20	G3 (Bethesda)	Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.	Red blood cell traits	1904 African American individuals	411 African American individuals	16p13.3	ITFG3	rs9924561-T	0.10	9E-17	(MCHC)	0.47	[0.35-0.59] unit decrease	Illumina [907954]	N
587	chr16	314779	314780	rs9924561	23696099	Ding K	2013-05-20	G3 (Bethesda)	Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.	Red blood cell traits	1904 African American individuals	411 African American individuals	16p13.3	ITFG3	rs9924561-T	0.10	8E-36	(MCH)	1.56	[1.32-1.80] pg decrease	Illumina [907954]	N
587	chr16	314779	314780	rs9924561	23696099	Ding K	2013-05-20	G3 (Bethesda)	Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.	Red blood cell traits	1904 African American individuals	411 African American individuals	16p13.3	ITFG3	rs9924561-T	0.10	5E-29	(MCV)	3.57	[2.94-4.20] fL decrease	Illumina [907954]	N
587	chr16	375781	375782	rs9921222	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	16p13.3	AXIN1	rs9921222-T	0.48	1E-16	(LSBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
587	chr16	387866	387867	rs11866815	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.3	AXIN1	rs11866815-C	0.763	2E-7	(EA)	0.019	[0.012-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
587	chr16	387866	387867	rs11866815	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.3	AXIN1	rs11866815-C	0.763	1E-7	(EA, women)	0.024	[0.015-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
587	chr16	387866	387867	rs11866815	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.3	AXIN1	rs11866815-C	0.754	2E-6		0.016	[0.0096-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
589	chr16	580123	580124	rs2266928	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin concentration	7,943 African American children, 6,234 European ancestry children	NA	16p13.3	Alpha-globin cluster	rs2266928-A	NR	3E-11		0.1178	[0.083-0.152] unit decrease	Illumina [544917]	N
589	chr16	630664	630665	rs1981483	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	16p13.3	PIGQ	rs1981483-A	0.42	4E-6		0.11	[0.065-0.155] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
589	chr16	637211	637212	rs2017567	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	16p13.3	intergenic	rs2017567-C	0.42	9E-6		0.1	[0.059-0.141] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
590	chr16	661334	661335	rs7204439	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	16p13.3	RAB40C	rs7204439-C	0.42	4E-6		0.11	[0.065-0.155] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
590	chr16	675679	675680	rs763014	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	16p13.3	RAB40C	rs763014-C	0.43	5E-6		0.24	[0.12-0.29] cm increase	Affymetrix, Illumina [2260683] (imputed)	N
591	chr16	792189	792190	rs11648796	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	16p13.3	NARFL	rs11648796-A	0.17	6E-8		0.043	[0.025-0.061] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
591	chr16	792189	792190	rs11648796	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	16p13.3	NARFL	rs11648796-A	0.74	1E-13		0.034	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
593	chr16	1050876	1050877	rs500492	25574032	Lee H	2015-01-08	Hum Reprod	Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome.	Polycystic ovary syndrome	976 Korean ancestry cases, 946 Korean ancestry controls	249 Korean ancestry cases, 778 Korean ancestry controls	16p13.3	SOX8, LMF1, SSTR5	rs500492-A	0.65	6E-6		1.32	[NR]	Illumina [636870]	N
593	chr16	1073551	1073552	rs2744148	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	16p13.3	SOX8	rs2744148-G	NR	8E-8		1.12	[1.1-1.14]	Illumina [465434]	N
596	chr16	1484454	1484455	rs61743495	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16p13.3	NR	rs61743495-?	NR	3E-6	(Native Hawaiian)	0.9229	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
596	chr16	1532462	1532463	rs13336428	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	16p13.3	C16orf38	rs13336428-A	0.43	1E-16	(FNBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
598	chr16	1705793	1705794	rs79007183	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	16p13.3	CRAMP1L, TMEM204, IFT140, HN1L	rs79007183-A	0.01	3E-10		14.0	[NR]	Affymetrix [4893794] (imputed)	N
599	chr16	1837405	1837406	rs2235649	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p13.3	NUBP2	rs2235649-T	0.22	2E-11	(X-12556)	0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
599	chr16	1838835	1838836	rs1065656	21216879	Kaplan RC	2011-01-07	Hum Mol Genet	A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.	Insulin-like growth factors	10,280 European ancestry individuals	NA	16p13.3	NUBP2, IGFALS	rs1065656-G	0.68	1E-11	(IGFBP-3)			Affymetrix, Illumina [~ 2500000] (imputed)	N
601	chr16	2097157	2097158	rs2516739	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	16p13.3	NTHL1	rs2516739-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
601	chr16	2107112	2107113	rs45502703	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.3	TSC2	rs45502703-G	0.052	5E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
602	chr16	2249375	2249376	rs26868	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	16p13.3	CASKIN1	rs26868-A	0.46	9E-17		0.034	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
607	chr16	2917326	2917327	rs9925432	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p13.3	NR	rs9925432-?	NR	4E-7		0.1098	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
608	chr16	3023604	3023605	rs886427	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	16p13.3	PKMYT1	rs886427-?	0.28	6E-6	(WHR)			Illumina [308011]	N
608	chr16	3124919	3124920	rs4349147	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 susceptibility	496 African ancestry cases and 302 African ancestry exposed controls from serodiscordant couples	NA	16p13.3	IL32	rs4349147-?	NR	8E-6				Illumina [990115]	N
609	chr16	3185736	3185737	rs560947	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	16p13.3	ZNF213	rs560947-C		9E-6		0.04	[0.02-0.06] unit increase	Affymetrix [~ 2500000] (imputed)	N
611	chr16	3509055	3509056	rs40363	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	16p13.3	NAA60	rs40363-G	0.72	3E-6		11.1111	[NR]	Affymetrix [up to 4467279] (imputed)	N
612	chr16	3627357	3627358	rs758747	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.3	NLRC3	rs758747-T	0.28	2E-10		0.023	[0.016-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
612	chr16	3627357	3627358	rs758747	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.3	NLRC3	rs758747-T	0.265	7E-10	(EA)	0.023	[0.015-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
612	chr16	3627357	3627358	rs758747	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.3	NLRC3	rs758747-T	0.264	8E-8	(EA, men)	0.026	[0.016-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
613	chr16	3769580	3769581	rs56240109	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/5-HIAA ratio)	up to 398 European ancestry individuals	NA	16p13.3	TRAP1, CREBBP	rs56240109-G		5E-6		0.219	unit increase	Illumina [5767231] (imputed)	N
613	chr16	3778336	3778337	rs3751845	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.3	CREBBP	rs3751845-A	0.053	9E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
613	chr16	3796146	3796147	rs129963	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	16p13.3	CREBBP	rs129963-T	0.42	9E-6	(Thiazides)			Affymetrix, Illumina [~ 2500000] (imputed)	N
614	chr16	3873641	3873642	rs1296720	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	16p13.3	CREBBP	rs1296720-C	0.197	4E-10		0.83	[0.58-1.08] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
615	chr16	3962619	3962620	rs12446940	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	16p13.3	intergenic	rs12446940-A	0.3563	4E-6	(Ordinal I)	0.1929	[0.11-0.27] unit increase	Affymetrix, Illumina [NR] (imputed)	N
615	chr16	3980444	3980445	rs8049367	25775280	Sun Y	2015-03-16	Nat Commun	Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.	Nonsyndromic cleft lip with or without cleft palate	858 Chinese ancestry cases, 1,248 Chinese ancestry controls	1,663 Chinese ancestry cases,  1,874 Chinese ancestry controls	16p13.3	CREBBP, ADCY9	rs8049367-C	NR	9E-12		1.35	[1.25-1.47]	Affymetrix [842556]	N
615	chr16	4013466	4013467	rs2531995	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	16p13.3	ADCY9	rs2531995-T	0.33	7E-8		0.0315	[0.02-0.043] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
615	chr16	4013466	4013467	rs2531995	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16p13.3	ADCY9	rs2531995-T	0.61	4E-8	(Obesity I)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
615	chr16	4038386	4038387	rs2444217	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	16p13.3	ADCY9	rs2444217-A	0.57	9E-8				Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
616	chr16	4065582	4065583	rs1967309	25583994	Tardif JC	2015-01-11	Circ Cardiovasc Genet	Pharmacogenomic Determinants of the Cardiovascular Effects of Dalcetrapib.	Response to Dalcetrapib treatment in acute coronary syndrome	2,845 European ancestry individuals	NA	16p13.3	ADCY9	rs1967309-G	0.55	2E-8		1.54	[1.32-1.79]	Illumina [5543264] (imputed)	N
616	chr16	4071721	4071722	rs67335251	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	16p13.3	intergenic	rs67335251-A	0.059	2E-6		3.06	[1.89-4.96]	Illumina [1556551]	N
616	chr16	4103870	4103871	rs2601828	20522523	Kasperaviciute D	2010-06-03	Brain	Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.	Partial epilepsies	Up to 3,445 European ancestry cases, 6,935 European ancestry controls	NA	16p13.3	ADCY9	rs2601828-A	0.222	1E-6		1.12	[1.12-1.31]	Illumina [528745]	N
617	chr16	4255179	4255180	rs7195486	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	16p13.3	SRL	rs7195486-C	0.213	9E-7		0.55	[0.33-0.77] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
617	chr16	4257312	4257313	rs75825892	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.3	SRL	rs75825892-A	0.099	5E-6	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
619	chr16	4497450	4497451	rs6500602	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p13.3	NR	rs6500602-T	NR	3E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
620	chr16	4646877	4646878	rs8050907	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.3	C16orf96, LOC342346	rs8050907-A	0.027	7E-7	(Total antioxidants )	0.03	[NR] mM increase	Illumina [899892]	N
623	chr16	5001379	5001380	rs9635542	22637743	Wei S	2012-05-27	Carcinogenesis	Genome-wide gene-environment interaction analysis for asbestos exposure in lung cancer susceptibility.	Lung cancer (asbestos exposure interaction)	1,154 European ancestry cases, 1,137 European ancestry controls	NA	16p13.3	PPL	rs9635542-G	0.10	4E-6				Illumina [307944]	N
623	chr16	5003073	5003074	rs34924084	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	16p13.3	PPL, SEC14L5	rs34924084-A		2E-6		0.297	unit increase	Illumina [5767231] (imputed)	N
625	chr16	5283490	5283491	rs7204436	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	16p13.3	intergenic	rs7204436-?	NR	2E-7				Perlegen [1871025] (imputed)	N
627	chr16	5585851	5585852	rs870288	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	16p13.3	FAM86A	rs870288-A	0.70	9E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
627	chr16	5585851	5585852	rs870288	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	16p13.3	ALG1	rs870288-?	NR	1E-8	(levels)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
629	chr16	5819619	5819620	rs12597084	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	16p13.3	RBFOX1	rs12597084-?	NR	5E-7	(Latino)	1.43	[1.19-1.82]	Affymetrix, Illumina [NR] (imputed)	N
630	chr16	5919654	5919655	rs192917960	25027321	Hoffmann TJ	2014-07-15	Hum Mol Genet	Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.	Glaucoma	658 African American prevalent cases, 1,062 African American incident cases, 6,067 African American controls, 153 Hispanic prevalent cases, 336 Hispanic incident cases, 2,685 Hispanic controls	NA	16p13.3	FAM86A, RBFOX1	rs192917960-T	0.032	4E-8	(AA)	1.87	[1.50-2.33]	Affymetrix [up to 15784307] (imputed)	N
630	chr16	5919654	5919655	rs192917960	25027321	Hoffmann TJ	2014-07-15	Hum Mol Genet	Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.	Glaucoma	658 African American prevalent cases, 1,062 African American incident cases, 6,067 African American controls, 153 Hispanic prevalent cases, 336 Hispanic incident cases, 2,685 Hispanic controls	NA	16p13.3	FAM86A, RBFOX1	rs192917960-T	0.032	1E-8	(AA, incident)	2.14	[1.65-2.78]	Affymetrix [up to 15784307] (imputed)	N
631	chr16	6034142	6034143	rs191076832	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p13.3	NR	rs191076832-?	NR	6E-6	(Native Hawaiian)	1.1977	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
631	chr16	6108429	6108430	rs1906060	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	16p13.3	A2BP1	rs1906060-G	0.2	4E-6		0.59	[0.24-0.94] mmHg increase	Illumina [466573]	N
631	chr16	6113660	6113661	rs6500744	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	16p13.3	A2BP1	rs6500744-C	0.53	3E-6	(int, MW)	0.91	[NR] unit increase	Perlegen [429901]	N
631	chr16	6148029	6148030	rs4786816	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.3	RBFOX1	rs4786816-A	0.281	2E-6	(BMI )	0.03	[NR] kg/m2 increase	Illumina [899892]	N
631	chr16	6156325	6156326	rs7403856	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.3	RBFOX1	rs7403856-A	0.287	9E-6	(Fat mass )	0.03	[NR] kg increase	Illumina [899892]	N
631	chr16	6156325	6156326	rs7403856	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.3	RBFOX1	rs7403856-A	0.287	2E-6	(Weight )	0.03	[NR] kg increase	Illumina [899892]	N
632	chr16	6175428	6175429	rs7189501	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.3	RBFOX1	rs7189501-C	0.423	3E-6		0.014	[0.008-0.0194] kg/m2 increase	Affymetrix, Illumina [2550021]	N
636	chr16	6699260	6699261	rs11643447	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	16p13.3	A2BP1	rs11643447-T	0.05	2E-7	(men)			Affymetrix, Illumina [2500000] (imputed)	N
636	chr16	6717756	6717757	rs8054347	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p13.3	NR	rs8054347-A	NR	1E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
637	chr16	6817374	6817375	rs6500818	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	16p13.3	NR	rs6500818-?	NR	2E-7		1.31	[NR]	Illumina [481342]	N
637	chr16	6896127	6896128	rs11645781	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	16p13.3	A2BP1	rs11645781-G	0.696	2E-7				Affymetrix, Illumina [2516789] (imputed)	N
637	chr16	6910384	6910385	rs12921846	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	16p13.3	A2BP1	rs12921846-A	0.40	9E-6				Perlegen [378332]	N
639	chr16	7139172	7139173	rs11866781	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	16p13.3	A2BP1	rs11866781-?	0.58	5E-6	(Age 20-81 years)	1.3	[1.16-1.45]	Affymetrix, Illumina [up to 17585496] (imputed)	N
639	chr16	7164218	7164219	rs1478693	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep time	2,322 European ancestry individuals	NA	16p13.3	intergenic	rs1478693-G	0.27	4E-6		8.82	[5.10-12.54] unit increase	Illumina [2380486] (imputed)	N
640	chr16	7227121	7227122	rs9302841	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	16p13.3	A2BP1	rs9302841-?	NR	2E-6	(AIMS)			Affymetrix [492000]	N
641	chr16	7415551	7415552	rs4787008	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	16p13.3	LOC100131413, LOC100131080, A2BP1	rs4787008-G	0.17	6E-7		1.47	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
641	chr16	7458134	7458135	rs4581716	25233373	Simpson CL	2014-09-18	PLoS One	Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.	Myopia	3,923 European ancestry cases, 11,696 European ancestry controls	1,410 European ancestry cases, 2,921 cases, 3,171 European ancestry controls, 998 controls	16p13.3	RBFOX1	rs4581716-?		2E-6				Affymetrix, Illumina [up to 3397980] (imputed)	N
641	chr16	7459346	7459347	rs10500355	23474815	Stambolian D	2013-03-07	Hum Mol Genet	Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.	Refractive error	6,597 European ancestry and Erasmus Rucphen individuals, 683 Sardinian inidividuals	19,763 European ancestry individuals	16p13.3	RBFOX1	rs10500355-?	.3721	4E-9		0.111	[0.074-0.147] unit decrease	Affymetrix, Illumina [2093862] (imputed)	N
641	chr16	7459682	7459683	rs17648524	25233373	Simpson CL	2014-09-18	PLoS One	Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.	Hyperopia	7,068 European ancestry cases, 6,844 European ancestry controls	1,554 European ancestry cases, 892 cases, 1,654 European ancestry controls, 2,921 controls	16p13.3	RBFOX1	rs17648524-?		5E-7				Affymetrix, Illumina [up to 3397980] (imputed)	N
641	chr16	7459682	7459683	rs17648524	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	16p13.3	RBFOX1	rs17648524-C	0.36	6E-10		0.118	[0.081-0.155] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
642	chr16	7504853	7504854	rs9924951	19043545	Gieger C	2008-11-28	PLoS Genet	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.	Metabolite levels	284 European ancestry male individuals	NA	16p13.3	A2BP1	rs9924951-?	0.41	5E-7	(PC)			Affymetrix [187454]	N
644	chr16	7744179	7744180	rs12447542	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p13.3	NR	rs12447542-A	NR	7E-7		1.08	[NR]	Illumina [7158791] (imputed)	N
644	chr16	7753703	7753704	rs12444931	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	16p13.3	NR	rs12444931-?	NR	5E-6		1.2244	[NR]	Affymetrix [722112]	N
644	chr16	7836296	7836297	rs3112740	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	16p13.3	intergenic	rs3112740-?	0.86	6E-6	(CPDBI)	2.16	[NR]	Illumina [~ 518000]	N
645	chr16	7903608	7903609	rs12446289	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	16p13.2	intergenic	rs12446289-C		6E-6		0.2893	unit increase	Illumina [5767231] (imputed)	N
645	chr16	7929827	7929828	rs9788927	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	16p13.2	RBFOX1	rs9788927-A	0.1481	2E-6		1.019	[NR] unit decrease	Illumina [1216074] (imputed)	N
645	chr16	7932577	7932578	rs75728418	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p13.2	NR	rs75728418-?	NR	1E-7	(Latino)	1.2847	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
648	chr16	8329326	8329327	rs2034588	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	16p13.2	intergenic	rs2034588-G	0.02	2E-6	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
649	chr16	8503221	8503222	rs8045405	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QT interval	455 African American individuals	NA	16p13.2	intergenic	rs8045405-G		9E-6		11.38	[NR] ms decrease	Illumina [> 930000]	N
649	chr16	8517744	8517745	rs11861787	23962720	Speed D	2013-08-19	Hum Mol Genet	A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.	Epilepsy (remission after treatment)	889 European and unknown ancestry epilepsy cases	NA	16p13.2	NR	rs11861787-C	0.25	3E-6		1.8868	[NR]	Illumina [6923995] (imputed)	N
652	chr16	8871080	8871081	rs1299926	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	16p13.2	ABAT	rs1299926-T	0.054	8E-6	(Temperament)	0.26	[NR] unit increase	Affymetrix [677643]	N
652	chr16	8896930	8896931	rs3785176	25173107	Chen Y	2014-08-31	Nat Genet	Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.	Glaucoma (high intraocular pressure)	966 Han Chinese ancestry cases, 1,005 Han Chinese ancestry controls	1,140 Han Chinese ancestry cases, 2,237 Han Chinese ancestry controls	16p13.2	PMM2	rs3785176-G	0.23	2E-7		1.28	[1.17-1.41]	Illumina [870261]	N
655	chr16	9213879	9213880	rs3743832	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Non-substance related behavioral disinhibition	7,188 European ancestry individuals	NA	16p13.2	NR	rs3743832-A	0.39	4E-6		1.724	[NR] unit decrease	Illumina [527829]	N
655	chr16	9213879	9213880	rs3743832	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	16p13.2	NR	rs3743832-A	0.39	9E-7	(Non-substance related behavioral disinhibition)			Illumina [527829]	N
655	chr16	9297811	9297812	rs79900961	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	16p13.2	C16orf72	rs79900961-?	0.98	5E-8		1.49	[1.26-1.76]	Affymetrix, Illumina [~ 10000000] (imputed)	N
656	chr16	9325984	9325985	rs4782151	24700089	Miura K	2014-04-04	J Med Virol	Genome-wide association study of HPV-associated cervical cancer in Japanese women.	Cervical cancer	226 Japanese ancestry cases, 186 Japanese ancestry controls	NA	16p13.2	intergenic	rs4782151-C	0.4677	5E-6		1.91	[1.44-2.52]	Affymetrix [556045]	N
656	chr16	9343346	9343347	rs1397142	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.2	RPL21P119	rs1397142-A	0.359	6E-6	(TBF-b1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
656	chr16	9382328	9382329	rs8061903	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	16p13.2	AC087190.5-2	rs8061903-?	NR	5E-6				Illumina [990115]	N
656	chr16	9399723	9399724	rs631208	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	16p13.2	intergenic	rs631208-A	0.60	2E-6		1.18	[1.10-1.26]	Affymetrix, Illumina [2217510] (imputed)	N
657	chr16	9438691	9438692	rs40129	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	16p13.2	GRIN2A	rs40129-?	0.25	4E-7		1.21	[1.12-1.30]	Affymetrix [662108]	N
658	chr16	9675245	9675246	rs12325410	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	16p13.2	intergenic	rs12325410-T		1E-6	(Modelling analysis)	1.09	[1.05-1.13]	NR [1252901] (imputed)	N
659	chr16	9744094	9744095	rs17550532	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	16p13.2	intergenic	rs17550532-?	0.21	2E-6	(Recessive)	1.33	[1.18-1.49]	Affymetrix [319222]	N
660	chr16	9862555	9862556	rs11866328	22004137	Liu L	2011-10-01	Viral Immunol	A genome-wide association study with DNA pooling identifies the variant rs11866328 in the GRIN2A gene that affects disease progression of chronic HBV infection.	Hepatitis B	1,944 Han Chinese ancestry progressed cases, 854 Han Chinese ancestry asymptomatic carriers	NA	16p13.2	GRIN2A	rs11866328-G	NR	2E-8		1.68	[1.40-2.02]	Affymetrix [NR]	N
660	chr16	9911385	9911386	rs8058295	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	16p13.2	GRIN2A	rs8058295-A		7E-6	(Modelling analysis)	1.06	[1.04-1.09]	NR [1252901] (imputed)	N
660	chr16	9946318	9946319	rs9922678	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p13.2	NR	rs9922678-A	NR	2E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
660	chr16	9946318	9946319	rs9922678	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	16p13.2	GRIN2A	rs9922678-A	0.281	1E-8		1.067	[1.043-1.091]	Affymetrix, Illumina [9005918] (imputed)	N
662	chr16	10183086	10183087	rs1463132	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	16p13.2	NR	rs1463132-?	NR	8E-6	(progression)			Illumina [NR]	N
662	chr16	10188059	10188060	rs7203315	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	16p13.2	GRIN2A	rs7203315-T	0.34	4E-6	(AA-triglyceride response)	15.83	[9.13-22.53] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
664	chr16	10372519	10372520	rs147774538	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16p13.2	NR	rs147774538-?	NR	4E-6	(Native Hawaiian)	1.0415	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
665	chr16	10559262	10559263	rs13335336	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	16p13.13	ATF7IP2	rs13335336-?	0.078	7E-7	(risperidone-hemoglobin A1c)			Affymetrix [492900]	N
665	chr16	10593202	10593203	rs184822539	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	16p13.13	NR	rs184822539-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
665	chr16	10598306	10598307	rs58376408	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p13.13	NR	rs58376408-?	NR	2E-9	(Latino)	1.3522	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
666	chr16	10630776	10630777	rs6498068	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	16p13.13	EMP2	rs6498068-C		6E-6		0.2897	unit decrease	Illumina [5767231] (imputed)	N
666	chr16	10633164	10633165	rs11074889	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	16p13.13	EMP2	rs11074889-A	0.16	7E-7		1.68	[NR]	Illumina [835136]	N
666	chr16	10663626	10663627	rs2221433	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders	543 European ancestry female cases, 1,116 European ancestry female controls	NA	16p13.13	TEKT5, EMP2	rs2221433-G	0.682	5E-6		0.087	[0.05-0.124] unit decrease	Illumina [6150213] (imputed)	N
668	chr16	10975310	10975311	rs4781011	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	16p13.13	CIITA	rs4781011-T	NR	3E-6		1.15	[NR]	Illumina [266047]	N
669	chr16	11081248	11081249	rs6498142	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	16p13.13	CLEC16A	rs6498142-?	0.83	2E-7		1.56	[1.30-1.85]	Illumina [2057134] (imputed)	N
670	chr16	11158884	11158885	rs887864	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	Allergic rhinitis	3,933 European ancestry cases, 8,965 European ancestry controls	NA	16p13.13	CLEC16A	rs887864-A	0.63	1E-6		1.16	[1.09-1.23]	Affymetrix, Illumina [2217510] (imputed)	N
670	chr16	11166687	11166688	rs11865121	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	16p13.13	CLEC16A	rs11865121-C	0.69	2E-7		1.15	[1.04-1.25]	Affymetrix, Illumina [~ 2560000] (imputed)	N
670	chr16	11177800	11177801	rs7200786	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	16p13.13	CLEC16A	rs7200786-A	NR	9E-17		1.15	[1.13-1.16]	Illumina [465434]	N
670	chr16	11179872	11179873	rs12708716	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	16p13.13	CLEC16A	rs12708716-G	NR	5E-14	(T1D)	1.2	[NR]	Affymetrix, Illumina [NR]	N
670	chr16	11179872	11179873	rs12708716	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	16p13.13	CLEC16A	rs12708716-?	NR	2E-16				Affymetrix, Illumina [841622] (imputed)	N
670	chr16	11179872	11179873	rs12708716	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	16p13.13	CLEC16A	rs12708716-G	NR	7E-13				Affymetrix [up to 335565]	N
670	chr16	11179872	11179873	rs12708716	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	16p13.13	KIAA0350	rs12708716-A	0.65	5E-7		1.19	[0.97-1.45]	Affymetrix [469557]	N
670	chr16	11179872	11179873	rs12708716	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	16p13.13	KIAA0350	rs12708716-A	0.68	3E-18		1.23	[1.16-1.30]	Affymetrix [NR]	N
670	chr16	11187782	11187783	rs12924729	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	16p13.13	CLEC16A	rs12924729-G	0.68	3E-12		1.29	[1.20-1.38]	Illumina [507467]	N
670	chr16	11189887	11189888	rs12599402	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	16p13.13	CLEC16A	rs12599402-A	0.56	5E-7		1.2821		Illumina [2100739] (imputed)	N
670	chr16	11210414	11210415	rs9923856	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	16p13.13	CLEC16A	rs9923856-A	0.781	6E-6		1.17	[1.09-1.25]	Illumina [606164]	N
670	chr16	11222237	11222238	rs78394940	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.13	CLEC16A	rs78394940-A	0.063	9E-7	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
670	chr16	11222237	11222238	rs78394940	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.13	CLEC16A	rs78394940-A	0.063	2E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
670	chr16	11228711	11228712	rs62026376	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	16p13.13	CLEC16A	rs62026376-C	0.72	1E-8		1.17	[1.11-1.24]	Illumina [up to 4972397] (imputed)	N
670	chr16	11230702	11230703	rs7203459	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	16p13.13	CLEC16A	rs7203459-C	0.2674	2E-7		0.0706	[0.044-0.097] unit decrease	Illumina [2400000] (imputed)	N
670	chr16	11238782	11238783	rs2903692	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	16p13.13	KIAA0350	rs2903692-G	0.62	7E-11		1.54	[1.32-1.79]	Illumina [543071]	N
670	chr16	11249328	11249329	rs6498169	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	16p13.13	KIAA0350	rs6498169-G	0.37	4E-6		1.14	[1.08-1.21]	Affymetrix [334923]	N
671	chr16	11313050	11313051	rs7199390	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	16p13.13	C16orf75	rs7199390-T	0.1	2E-6	(Age 8)	0.19	[0.11-0.27] unit increase	Illumina [2293137] (imputed)	N
671	chr16	11347857	11347858	rs4780355	22482804	Ellinghaus D	2012-04-06	Am J Hum Genet	Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.	Crohn's disease and psoriasis	2,529 European ancestry psoriasis cases, 2,142 European ancestry Crohn's disease cases, 10,460 European ancestry controls	Up to 3,187 European ancestry psoriasis cases, 4,073 European ancestry Crohn's disease cases, 10,100 European ancestry controls	16p13.13	SOCS1	rs4780355-T	NR	1E-13	(same-effect analysis)	1.16	[NR]	Affymetrix, Illumina, Perlegen [1116213] (imputed)	N
671	chr16	11364078	11364079	rs416603	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	16p13.13	TNP2, PRM3, C16orf75	rs416603-T	0.44	3E-6		1.06	[1.01-1.12]	Affymetrix [up to 335565]	N
671	chr16	11373300	11373301	rs7198849	25881214	Shah AA	2015-02-27	Heart Surg Forum	Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.	Vein graft stenosis in coronary artery bypass grafting	361 European ancestry cases, 160 European ancestry controls	NA	16p13.13	PRM2	rs7198849-A	0.27	7E-6				Illumina [905781]	N
671	chr16	11373319	11373320	rs529866	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	16p13.13	LITAF, RMI2, SOCS1	rs529866-C	0.803	2E-16		1.124	[1.085-1.166]	Affymetrix, Illumina [1230000] (imputed)	N
671	chr16	11373404	11373405	rs423674	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p13.13	NR	rs423674-C	0.8	2E-10	(EA)	1.0876718		Affymetrix, Illumina [~ 9000000] (imputed)	N
671	chr16	11373404	11373405	rs423674	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p13.13	NR	rs423674-A	0.8	2E-14	(EA)	1.1317871		Affymetrix, Illumina [~ 9000000] (imputed)	N
671	chr16	11374865	11374866	rs737008	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.13	PRM1	rs737008-A	0.352	8E-7	(Protein deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
671	chr16	11374865	11374866	rs737008	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.13	PRM1	rs737008-A	0.352	8E-7	(Protein )	0.04	[NR] kg/y increase	Illumina [899892]	N
671	chr16	11374865	11374866	rs737008	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.13	PRM1	rs737008-A	0.352	1E-6	(Fat free mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
671	chr16	11386959	11386960	rs117096873	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	16p13.13	TNP2, PRM3, PRM2, PRM1, SOCS1	rs117096873-C	0.974	2E-6		0.129	[0.076-0.182] unit decrease	Illumina [6150213] (imputed)	N
672	chr16	11403892	11403893	rs12928822	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	16p13.13	CLEC16A, CIITA, SOCS1	rs12928822-?	0.84	3E-8		1.16	[1.10-1.22]	Illumina [292387]	N
672	chr16	11406802	11406803	rs7191700	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	16p13.13	TNP2, PRM3, PRM2, PRM1, C16orf75	rs7191700-C	0.67	6E-7		1.15	[NR]	Affymetrix, Illumina [2529394]	N
672	chr16	11416838	11416839	rs9921338	25881214	Shah AA	2015-02-27	Heart Surg Forum	Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.	Vein graft stenosis in coronary artery bypass grafting	361 European ancestry cases, 160 European ancestry controls	NA	16p13.13	RMI2	rs9921338-A	0.27	6E-6				Illumina [905781]	N
672	chr16	11452541	11452542	rs77061563	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	16p13.13	LOC388210	rs77061563-C	0.617	6E-15		1.1904762	[NR]	Illumina [4577171] (imputed)	N
672	chr16	11454649	11454650	rs7188861	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	16p13.13	RMI2	rs7188861-A	0.2	7E-9		0.044	[0.028-0.06] unit increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
673	chr16	11542893	11542894	rs4467099	25705159	Hong Y	2014-12-31	Genomics Inform	Genome-wide association study of hepatitis in korean populations.	Hepatitis	1,500 Korean ancestry cases, 1,500 Korean ancestry controls	NA	16p13.13	intergenic	rs4467099-A	NR	6E-13		1.09	[NR]	NR [352000]	N
673	chr16	11641179	11641180	rs7203193	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	16p13.13	intergenic	rs7203193-A	0.22	3E-6		0.08	[0.046-0.114] unit increase	Affymetrix [~ 2740000] (imputed)	N
674	chr16	11670757	11670758	rs12930096	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	16p13.13	LITAF	rs12930096-T	0.142	3E-13		1.22	[0.89-1.55] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
674	chr16	11691752	11691753	rs8049607	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	16p13.13	LITAF	rs8049607-C	0.52	7E-7		1.63	[0.98-2.28] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
674	chr16	11691752	11691753	rs8049607	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	16p13.13	LITAF	rs8049607-T	0.46	6E-15		1.25	[0.81-1.69] ms increase	Affymetrix, Illumina [2557000] (imputed)	N
674	chr16	11691752	11691753	rs8049607	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	16p13.13	LITAF, TNFRSF17, CLEC16A, SNN, ZC3H7A	rs8049607-T	0.49	5E-15		1.23	[0.88-1.57] msec increase	Affymetrix, Illumina [up to 2543686] (imputed)	N
674	chr16	11693535	11693536	rs735951	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	16p13.13	LITAF	rs735951-A	0.455	2E-28		1.15	[0.95-1.35] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
674	chr16	11701648	11701649	rs13333308	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)	8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	16p13.13	LITAF	rs13333308-?	NR	6E-6	(AA)	32.3	[NR]	Illumina [936149]	N
674	chr16	11704650	11704651	rs11641184	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p13.13	NR	rs11641184-A	0.4762	4E-10	(EA)	1.0811478	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
674	chr16	11704650	11704651	rs11641184	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p13.13	NR	rs11641184-A	0.4762	1E-14	(EA)	1.0803548	[1.06-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
674	chr16	11704650	11704651	rs11641184	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p13.13	NR	rs11641184-A	0.4762	3E-10	(EA)	1.0798526	[1.06-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
674	chr16	11734641	11734642	rs12444261	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	16p13.13	LITAF	rs12444261-T	0.262	2E-12		0.79	[0.57-1.01] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
674	chr16	11782048	11782049	rs9924009	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p13.13	NR	rs9924009-?	NR	3E-7	(Latino)	1.0391	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
675	chr16	11839325	11839326	rs4780401	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	16p13.13	TXNDC11	rs4780401-T	0.59	9E-9	(EA)	1.09	[1.06-1.13]	Affymetrix, Illumina [up to 9739303] (imputed)	N
675	chr16	11839325	11839326	rs4780401	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	16p13.13	TXNDC11	rs4780401-T	0.56	4E-8		1.07	[1.05-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
676	chr16	12016918	12016919	rs10852344	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	16p13.13	NR	rs10852344-T	0.5835	5E-8		0.158	[0.10-0.21] years increase	NR [NR]	N
676	chr16	12016918	12016919	rs10852344	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	16p13.13	intergenic	rs10852344-C	0.415	1E-11		0.168	[0.12-0.22] years increase	Affymetrix, Illumina [2551160] (imputed)	N
677	chr16	12077631	12077632	rs12922317	23358160	Borglum AD	2013-01-29	Mol Psychiatry	Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci.	Schizophrenia	888 European ancestry cases, 882 European ancestry controls	2539 European ancestry cases, 5486 European ancestry controls	16p13.13	RUNDC2A	rs12922317-G	0.339	9E-7		1.174		Illumina [541148]	N
677	chr16	12185809	12185810	rs8048589	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	16p13.13	SNX29, FLJ32790	rs8048589-C	0.181	4E-6	(Protein (control))			Affymetrix [590000]	N
677	chr16	12185809	12185810	rs8048589	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	16p13.13	SNX29, FLJ32790	rs8048589-C	0.181	4E-6	(Protein (control))			Affymetrix [590000]	N
681	chr16	12596934	12596935	rs117147010	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	16p13.12	NR	rs117147010-T	0.029	1E-6		0.358	[0.21-0.5] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
681	chr16	12596934	12596935	rs117147010	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	16p13.12	NR	rs117147010-T	0.029	3E-6		0.346	[0.2-0.49] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
681	chr16	12641114	12641115	rs1641895	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	16p13.12	LOC92017	rs1641895-T	0.02	5E-7	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
681	chr16	12708207	12708208	rs1560104	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.12	SNX29	rs1560104-G	0.47	4E-6	(Height z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
682	chr16	12718852	12718853	rs189178161	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	16p13.12	CPPED1, SNX29	rs189178161-?	NR	8E-6		0.64	[0.37-0.91] unit increase	Illumina [1075436] (imputed)	N
682	chr16	12723810	12723811	rs11075138	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Cerebral amyloid angiopathy	1,673 cases, 1,134 controls	NA	16p13.12	intergenic	rs11075138-G	0.9067	8E-6		0.5115	[0.29-0.74] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
682	chr16	12759508	12759509	rs58144239	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p13.12	NR	rs58144239-?	NR	1E-9	(Latino)	1.2211	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
684	chr16	12977061	12977062	rs11864332	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p13.12	NR	rs11864332-?	NR	3E-9	(Latino)	1.1289	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
684	chr16	13061610	13061611	rs7192086	18677311	O'Donovan MC	2008-07-30	Nat Genet	Identification of loci associated with schizophrenia by genome-wide association and follow-up.	Schizophrenia	479 European ancestry cases, 2,937 European ancestry controls	4,143 European ancestry cases, 6,515 European ancestry controls, 1,782 East Asian ancestry cases, 1,865 East Asian ancestry controls, 741 cases, 1,517 controls	16p13.12	intergenic	rs7192086-T	0.24	6E-6		1.12	[NR]	Affymetrix [362532]	N
685	chr16	13111994	13111995	rs77221366	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p13.12	NR	rs77221366-C	NR	8E-7		1.1627907	[NR]	Illumina [7158791] (imputed)	N
685	chr16	13154877	13154878	rs4465599	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		16p13.12	FLJ1111	rs4465599-A	NR	4E-7		0.0276	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
685	chr16	13217904	13217905	rs4781415	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	16p13.12	NR	rs4781415-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
686	chr16	13238896	13238897	rs150063	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory volume in 1 second to forced vital capacity ratio)	1,015 European ancestry individuals, 541 African American individuals	NA	16p13.12	NR	rs150063-?		9E-6	(AA)			Illumina [up to 524000]	N
686	chr16	13253955	13253956	rs153091	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	16p13.12	LOC729993	rs153091-?	0.227	2E-6	(perphenazine-triglycerides)			Affymetrix [492900]	N
686	chr16	13361410	13361411	rs11649112	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	16p13.12	NR	rs11649112-A	NR	1E-6	(phenotype 1)	2.49	[NR]	Illumina [> 8000000] (imputed)	N
686	chr16	13361410	13361411	rs11649112	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	16p13.12	NR	rs11649112-A	NR	1E-6	(phenotype 3)	2.49	[NR]	Illumina [> 8000000] (imputed)	N
688	chr16	13616483	13616484	rs9924758	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p13.12	NR	rs9924758-C	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
689	chr16	13656884	13656885	rs2903308	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	16p13.12	intergenic	rs2903308-A	0.461	2E-6	(EA + AA - Overall tolerability)			Affymetrix [421789]	N
689	chr16	13749858	13749859	rs7405404	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p13.12	NR	rs7405404-T	NR	1E-10		1.08	[NR]	Illumina [7158791] (imputed)	N
689	chr16	13749858	13749859	rs7405404	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	16p13.12	ERCC4	rs7405404-T	0.223	1E-9		1.077	[1.052-1.103]	Affymetrix, Illumina [9005918] (imputed)	N
691	chr16	13976355	13976356	rs2113334	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	16p13.12	ERCC4	rs2113334-?	0.41	3E-6	(WHR)			Illumina [308011]	N
691	chr16	13987718	13987719	rs6498482	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Egg allergy	217 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 688 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	16p13.12	LOC729993, ERCC4	rs6498482-?	NR	5E-6				Illumina [6459842] (imputed)	N
692	chr16	14038173	14038174	rs3136202	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	16p13.12	ERCC4	rs3136202-A	0.429	6E-6		0.07	[NR] unit decrease	Illumina [948658]	N
692	chr16	14045398	14045399	rs4781563	22085899	Chen G	2011-11-16	Eur J Hum Genet	UGT1A1 is a major locus influencing bilirubin levels in African Americans.	Bilirubin levels	619 African American individuals	NA	16p13.12	ERCC4	rs4781563-A	0.156	2E-6		0.163	[0.097-0.229] unit decrease	Affymetrix [808465]	N
692	chr16	14086444	14086445	rs9933712	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	16p13.12	ERCC4	rs9933712-A	NR	4E-7	(Perc15, All)	5.2	[1.67-8.73] unit increase	Illumina [7600000] (imputed)	N
694	chr16	14388304	14388305	rs1659127	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	16p13.12	MKL2, PARN	rs1659127-A	0.48	5E-10		0.041	[0.027-0.055] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
694	chr16	14388304	14388305	rs1659127	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	16p13.12	MKL2	rs1659127-A	0.34	4E-9		2.4	[1.62-3.18] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
694	chr16	14388304	14388305	rs1659127	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	16p13.12	MKL2	rs1659127-A	0.34	1E-11		0.027	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
694	chr16	14395431	14395432	rs246185	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	16p13.12	MKL2	rs246185-C	0.33	7E-16		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
694	chr16	14395431	14395432	rs246185	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	16p13.12	MKL2	rs246185-C	0.335	3E-13		0.72	[0.52-0.92] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
694	chr16	14395431	14395432	rs246185	24770850	Cousminer DL	2014-04-25	Hum Mol Genet	Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.	Puberty onset (genital enlargement)	3,769 European ancestry boys	208 European ancestry individuals	16p13.12	MKL2	rs246185-T	0.68	9E-9		0.141	[0.092-0.190] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
700	chr16	15082864	15082865	rs4985167	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	16p13.11	PDXDC1	rs4985167-T	NR	3E-7	(ALA)	0.01	[NR] % increase	Affymetrix, Illumina [NR]	N
700	chr16	15129458	15129459	rs4985155	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.11	PDXDC1	rs4985155-A	0.665	6E-7	(EA, men)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
700	chr16	15129458	15129459	rs4985155	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.11	PDXDC1	rs4985155-A	0.664	5E-6	(EA)	0.015	[0.0084-0.0214] kg/m2 increase	Affymetrix, Illumina [2550021]	N
700	chr16	15129458	15129459	rs4985155	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p13.11	PDXDC1	rs4985155-A	0.662	2E-6		0.015	[0.0089-0.0211] kg/m2 increase	Affymetrix, Illumina [2550021]	N
700	chr16	15129458	15129459	rs4985155	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	8,631 European ancestry individuals	NA	16p13.11	PDXDC1, NTAN1, C16orf45, KIAA0430, MYH11, NDEI, RRN3, PARN	rs4985155-A	0.647	2E-12		0.01	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
700	chr16	15129458	15129459	rs4985155	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	8,631 European ancestry individuals	NA	16p13.11	PDXDC1, NTAN1, C16orf45, KIAA0430, MYH11, NDEI, RRN3, PARN	rs4985155-A	0.648	2E-67		0.22	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
700	chr16	15129458	15129459	rs4985155	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	16p13.11	NTAN1	rs4985155-A	0.67	2E-10	(FNBMD)	0.03	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
700	chr16	15129939	15129940	rs3198697	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	16p13.11	PDXDC1	rs3198697-T	0.43	2E-8		0.02	[NR] mg/dL decrease	NR [NR] (imputed)	N
700	chr16	15129969	15129970	rs7200543	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	16p13.11	NTAN1, PDXDC1, PLA2G10	rs7200543-A	0.6987	3E-17	(Phosphatidylcholine diacyl C38:3)	0.0413	[0.032-0.051] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
700	chr16	15129969	15129970	rs7200543	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	16p13.11	PDXDC1	rs7200543-G	0.304	5E-16	(SM-15 + 12 other traits)	0.073	[NR] unit decrease	Affymetrix, Illumina [534665]	N
700	chr16	15130350	15130351	rs1741	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	8,631 European ancestry individuals	NA	16p13.11	PDXDC1, NTAN1	rs1741-C	0.308	2E-10		0.2	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
700	chr16	15130593	15130594	rs6498540	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	16p13.11	NTAN1, PDXDC1, PLA2G10	rs6498540-A	0.6989	1E-21	(lysoPhosphatidylcholine acyl C20:3)	0.0556	[0.044-0.067] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
700	chr16	15130593	15130594	rs6498540	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p13.11	PDXDC1	rs6498540-A	0.7	3E-11	(dihomo-linolenate (20:3n3 or n6))	0.017	[0.011-0.023] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
700	chr16	15131973	15131974	rs1136001	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	8,631 European ancestry individuals	NA	16p13.11	PDXDC1, NTAN1, C16orf45, KIAA0430, MYH11, NDEI, RRN3, PARN	rs1136001-T	0.309	1E-15		0.35	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
700	chr16	15131973	15131974	rs1136001	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	16p13.11	PDXDC1, NTAN1	rs1136001-T	0.44	7E-6		0.05	[0.03-0.07] cm decrease	Illumina [420885]	N
700	chr16	15132107	15132108	rs2740	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	16p13.11	PDXDC1	rs2740-A	0.71	5E-32	(linoleate (18:2n6)/dihomo-linolenate (20:3n3 or n6))	0.022	[0.018-0.026] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
700	chr16	15140210	15140211	rs4500751	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	16p13.11	PDXDC1	rs4500751-?	NR	6E-23	(levels)	0.0	[0.80-2.40] % increase	Illumina [NR] (imputed)	N
700	chr16	15148645	15148646	rs11075253	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	16p13.11	PDXC1, C20:2, C20:3	rs11075253-?	NR	5E-15	(LA/PUFA)	0.14	[0.1-0.18] unit decrease	Illumina [~ 7700000] (imputed)	N
700	chr16	15150832	15150833	rs2280018	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	8,631 European ancestry individuals	NA	16p13.11	PDXDC1, NTAN1, C16orf45, KIAA0430, MYH11, NDEI, RRN3, PARN	rs2280018-A	0.38	4E-14	(Conditioned on rs16966952)	0.38	[0.28-0.48] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
700	chr16	15150832	15150833	rs2280018	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	8,631 European ancestry individuals	NA	16p13.11	PDXDC1, NTAN1, C16orf45, KIAA0430, MYH11, NDEI, RRN3, PARN	rs2280018-A	0.39	5E-25	(Conditioned on rs16966952)	0.16	[0.12-0.20] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
702	chr16	15378696	15378697	rs1629212	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	16p13.11	MPV17L, PDXDC1, PLA2G10	rs1629212-A	0.5974	2E-12	(lysoPhosphatidylcholine acyl C20:3)	0.0493	[0.036-0.063] unit decrease	Affymetrix, Illumina [at least 296619] (imputed)	N
703	chr16	15587496	15587497	rs34792	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	8,631 European ancestry individuals	NA	16p13.11	C16orf45	rs34792-C	0.38	3E-6		0.21	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
706	chr16	15881966	15881967	rs17213965	23966867	Liu CT	2013-08-15	PLoS Genet	Genome-wide association of body fat distribution in African ancestry populations suggests new loci.	Waist-hip ratio	up to 19,744 African American individuals	Up to 7,606 African American individuals	16p13.11	MYH11	rs17213965-T	0.14	9E-7	(BMI_men)	0.12	[0.081-0.159] unit increase	Affymetrix, Illumina [3200000] (imputed)	N
706	chr16	15883489	15883490	rs17214007	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	16p13.11	MYH11	rs17214007-?	NR	4E-6		0.0356	[0.021-0.051] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
706	chr16	15974641	15974642	rs72773978	26198393	Ziv E	2015-07-22	Nat Commun	Genome-wide association study identifies variants at 16p13 associated with survival in multiple myeloma patients.	Multiple myeloma (survival)	469 European ancestry cases, 25 African American cases, 27 Latino cases, 24 cases	1090 European ancestry cases	16p13.11	MYH11, FOPNL, ABCC1, ABCC6	rs72773978-T	0.051	7E-9		1.93	[1.54-2.41]	Affymetrix, Illumina [6026834] (imputed)	N
708	chr16	16123458	16123459	rs924135	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p13.11	ABCC1	rs924135-A	0.38	2E-19	(succinylcarnitine)	0.017	[0.013-0.021] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
708	chr16	16127234	16127235	rs2062541	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	16p13.11	ABCC1	rs2062541-A	0.61	1E-25	(hexanoylcarnitine/octanoylcarnitine)	0.018	[0.014-0.022] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
708	chr16	16127234	16127235	rs2062541	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p13.11	ABCC1	rs2062541-A	0.62	6E-13	(X-13435)	0.02	[0.014-0.026] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
708	chr16	16128741	16128742	rs246234	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p13.11	ABCC1	rs246234-C	0.3	3E-14	(glutaroyl carnitine)	0.02	[0.014-0.026] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
709	chr16	16256766	16256767	rs3213473	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16p13.11	NR	rs3213473-G	0.851097327102804	7E-6	(IGP70)	0.2016	[0.11-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
711	chr16	16636186	16636187	rs2316394	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16p13.11	NR	rs2316394-?	NR	4E-7	(Native Hawaiian)	1.283	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
712	chr16	16730727	16730728	rs9937036	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p13.11	LOC441750	rs9937036-C	0.015	8E-7	(ALT )	0.04	[NR] U/L increase	Illumina [899892]	N
714	chr16	16957914	16957915	rs7186128	23478653	Han JY	2013-03-12	Pharmacogenomics J	A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.	Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer	139 individuals	NA	16p12.3	intergenic	rs7186128-G	NR	4E-7	(Additive model)	2.5	[1.70-3.50]	Affymetrix [334127]	N
720	chr16	17739691	17739692	rs12445126	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		16p12.3	XYLT1	rs12445126-G	0.09	2E-6		0.088	[NR] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
722	chr16	18024849	18024850	rs9922516	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p12.3	intergenic	rs9922516-G	0.0060	9E-6	(ALT )	0.02	[NR] U/L increase	Illumina [899892]	N
722	chr16	18062135	18062136	rs7194356	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16p12.3	NR	rs7194356-C	0.895432401869159	7E-6	(IGP48)	0.2261	[0.13-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
730	chr16	19028548	19028549	rs4265793	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	16p12.3	TMC7	rs4265793-T	NR	6E-6	(AA)	1.22	[0.65-1.79] unit decrease	Affymetrix [~ 2300000] (imputed)	N
731	chr16	19156015	19156016	rs8062326	21876473	Lydall GJ	2011-08-26	Psychiatr Genet	Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorder.	Alcohol dependence	506 European ancestry cases, 510 European ancestry controls	NA	16p12.3	SYT17	rs8062326-T	0.02	4E-6	(BPALC)			Affymetrix [372193]	N
732	chr16	19274551	19274552	rs75774303	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16p12.3	NR	rs75774303-?	NR	5E-7		0.4062	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
733	chr16	19404644	19404645	rs4780805	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep duration	2,278 European ancestry individuals	NA	16p12.3	TMC5	rs4780805-A	0.15	8E-7		0.19	[0.11-0.27] unit decrease	Illumina [2380486] (imputed)	N
737	chr16	19933599	19933600	rs12444979	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	16p12.3	GPRC5B, IQCK	rs12444979-C	0.87	3E-21		0.17	[0.11-0.23] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
737	chr16	19935072	19935073	rs12446554	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16p12.3	GPRC5B	rs12446554-G	0.86	4E-12	(Overweight)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
737	chr16	19935388	19935389	rs12446632	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p12.3	GPRC5B	rs12446632-G	0.866	2E-19		0.04	[0.031-0.049] kg/m2 increase	Affymetrix, Illumina [2550021]	N
737	chr16	19935388	19935389	rs12446632	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p12.3	GPRC5B	rs12446632-G	0.866	2E-10	(EA, men)	0.039	[0.027-0.05] kg/m2 increase	Affymetrix, Illumina [2550021]	N
737	chr16	19935388	19935389	rs12446632	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p12.3	GPRC5B	rs12446632-G	0.865	1E-18	(EA)	0.04	[0.031-0.049] kg/m2 increase	Affymetrix, Illumina [2550021]	N
737	chr16	19935388	19935389	rs12446632	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p12.3	GPRC5B	rs12446632-G	0.865	1E-13	(EA, women)	0.043	[0.032-0.055] kg/m2 increase	Affymetrix, Illumina [2550021]	N
737	chr16	19935388	19935389	rs12446632	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	16p12.3	GPRC5B	rs12446632-A	0.13	1E-8		0.04	[0.026-0.054] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
737	chr16	19935388	19935389	rs12446632	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16p12.3	GPRC5B	rs12446632-G	0.86	2E-10	(Obesity class I)	1.09	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
737	chr16	19944362	19944363	rs11639988	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16p12.3	GPRC5B	rs11639988-A	0.86	4E-9	(Obesity class II)	1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
737	chr16	19960319	19960320	rs4527026	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p12.3	GPRC5B	rs4527026-A	0.013	5E-6	(TNF-a )	0.03	[NR] pg/mL increase	Illumina [899892]	N
737	chr16	20031204	20031205	rs2764743	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16p12.3	NR	rs2764743-T	0.936472894262295	8E-7	(IGP41)	0.346	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
738	chr16	20056992	20056993	rs12596252	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs12596252-A		3E-6				Illumina [2373249] (imputed)	N
738	chr16	20057660	20057661	rs1902813	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs1902813-C		3E-6				Illumina [2373249] (imputed)	N
738	chr16	20059676	20059677	rs12926725	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs12926725-T		3E-6				Illumina [2373249] (imputed)	N
738	chr16	20060829	20060830	rs12931939	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs12931939-T		6E-6				Illumina [2373249] (imputed)	N
738	chr16	20089753	20089754	rs10521114	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs10521114-A		8E-6				Illumina [2373249] (imputed)	N
738	chr16	20090644	20090645	rs10521115	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs10521115-A		8E-6				Illumina [2373249] (imputed)	N
738	chr16	20094053	20094054	rs7201408	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs7201408-A		7E-6				Illumina [2373249] (imputed)	N
738	chr16	20094545	20094546	rs12924103	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs12924103-T		7E-6				Illumina [2373249] (imputed)	N
738	chr16	20094885	20094886	rs7185264	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs7185264-A		7E-6				Illumina [2373249] (imputed)	N
738	chr16	20095627	20095628	rs11647507	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs11647507-A		7E-6				Illumina [2373249] (imputed)	N
738	chr16	20100369	20100370	rs12926729	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs12926729-A		7E-6				Illumina [2373249] (imputed)	N
738	chr16	20109652	20109653	rs11642377	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs11642377-A		7E-6				Illumina [2373249] (imputed)	N
738	chr16	20122289	20122290	rs2608200	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs2608200-A		6E-6				Illumina [2373249] (imputed)	N
738	chr16	20123514	20123515	rs6497436	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs6497436-T		6E-6				Illumina [2373249] (imputed)	N
738	chr16	20126973	20126974	rs12919130	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (inattention symptoms)	1,851 individuals	155 individuals	16p12.3	NR	rs12919130-A		2E-6				Illumina [2373249] (imputed)	N
739	chr16	20257866	20257867	rs12597579	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	16p12.3	GP2	rs12597579-C	0.78	6E-7		0.0316	[0.019-0.044] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
739	chr16	20257866	20257867	rs12597579	22344219	Wen W	2012-02-19	Nat Genet	Meta-analysis identifies common variants associated with body mass index in east Asians.	Body mass index	22,762 East Asian ancestry individuals, 2,522 Malay ancestry individuals, 2,431 Chinese, Malay and Asian Indian ancestry individuals	53,215 East Asian ancestry results, 2,118 Malay ancestry individuals	16p12.3	GP2	rs12597579-C	0.80	1E-8		4.09	[2.21-5.97] % increase	Affymetrix, Illumina [2474474] (imputed)	N
740	chr16	20342571	20342572	rs12444268	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	16p12.3	intergenic	rs12444268-A	0.30	2E-7		1.1	[1.03-1.17]	Affymetrix, Illumina [841622] (imputed)	N
740	chr16	20351230	20351231	rs11859916	22087292	Sun L	2011-11-07	PLoS One	Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass.	Femoral neck bone geometry	1,627 Han Chinese ancestry individuals	2,286 European ancestry individuals	16p12.3	UMOD	rs11859916-?	NR	2E-6	(ALM-W)			Affymetrix [689368]	N
740	chr16	20364587	20364588	rs4293393	20686651	Gudbjartsson DF	2010-07-29	PLoS Genet	Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.	Chronic kidney disease and serum creatinine levels	1,689 European ancestry cases, 37,076 European ancestry controls	1,972 European ancestry cases, 6,125 European ancestry controls	16p12.3	UMOD	rs4293393-T	0.798	4E-10	(CKD)	1.25	[1.17-1.35]	Illumina [~ 2500000] (imputed)	N
740	chr16	20365653	20365654	rs13333226	21082022	Padmanabhan S	2010-10-28	PLoS Genet	Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.	Hypertension	1,621 extreme cases, 1,699 controls	19,845 extreme cases, 16,541 controls	16p12.3	UMOD	rs13333226-A	0.81	4E-11		1.15	[1.10-1.19]	Illumina [521220] (imputed)	N
740	chr16	20367689	20367690	rs12917707	25493955	Gorski M	2014-12-10	Kidney Int	Genome-wide association study of kidney function decline in individuals of European descent.	Kidney function decline traits	up to 45,530 European ancestry individuals	up to 18,028 European ancestry individuals	16p12.3	UMOD, PDILT	rs12917707-T	0.18	8E-13	(eGFRchange noCKD)	0.15	[0.11-0.19] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
740	chr16	20367689	20367690	rs12917707	25493955	Gorski M	2014-12-10	Kidney Int	Genome-wide association study of kidney function decline in individuals of European descent.	Kidney function decline traits	up to 45,530 European ancestry individuals	up to 18,028 European ancestry individuals	16p12.3	UMOD, PDILT	rs12917707-T	0.18	4E-6	(CKDi25)	0.22	[0.12-0.32] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
740	chr16	20367689	20367690	rs12917707	25493955	Gorski M	2014-12-10	Kidney Int	Genome-wide association study of kidney function decline in individuals of European descent.	Kidney function decline traits	up to 45,530 European ancestry individuals	up to 18,028 European ancestry individuals	16p12.3	UMOD, PDILT	rs12917707-T	0.18	2E-17	(eGFRchange overall)	0.14	[NR] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
740	chr16	20367689	20367690	rs12917707	25493955	Gorski M	2014-12-10	Kidney Int	Genome-wide association study of kidney function decline in individuals of European descent.	Kidney function decline traits	up to 45,530 European ancestry individuals	up to 18,028 European ancestry individuals	16p12.3	PDILT, UMOD	rs12917707-T	0.18	9E-8	(CKDi)	0.2	[0.12-0.28] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
740	chr16	20367689	20367690	rs12917707	24578125	Olden M	2014-02-27	J Am Soc Nephrol	Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.	Urinary uromodulin levels	10,884 European ancestry individuals	NA	16p12.3	UMOD	rs12917707-T	0.18	8E-73		0.32	[0.28-0.36] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
740	chr16	20367689	20367690	rs12917707	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	16p12.3	UMOD, ACSM5, GP2, PDILT	rs12917707-T	0.18	1E-20	(eGFRcrea)			Affymetrix, Illumina [~ 2500000] (imputed)	N
740	chr16	20367689	20367690	rs12917707	19430482	Kottgen A	2009-05-10	Nat Genet	Multiple loci associated with indices of renal function and chronic kidney disease.	Renal function and chronic kidney disease	2,388 European ancestry cases, 17,489 European ancestry controls	1,932 cases, 19,534 controls	16p12.3	UMOD	rs12917707-T	0.18	5E-16	(eGFRcrea)	0.02	[0.014-0.022] ml/min/1.73m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
740	chr16	20367689	20367690	rs12917707	19430482	Kottgen A	2009-05-10	Nat Genet	Multiple loci associated with indices of renal function and chronic kidney disease.	Renal function and chronic kidney disease	2,388 European ancestry cases, 17,489 European ancestry controls	1,932 cases, 19,534 controls	16p12.3	UMOD	rs12917707-G	0.82	2E-12	(CKD)	1.25	[1.18-1.33]	Affymetrix, Illumina [~ 2500000] (imputed)	N
740	chr16	20371587	20371588	rs4494548	24578125	Olden M	2014-02-27	J Am Soc Nephrol	Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.	Urinary uromodulin levels	10,884 European ancestry individuals	NA	16p12.3	PDILT	rs4494548-A	0.13	4E-15		0.17	[0.13-0.21] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
740	chr16	20400838	20400839	rs11864909	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	16p12.3	UMOD	rs11864909-C	0.81	1E-10		0.0052	[0.0036-0.0068] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
740	chr16	20400838	20400839	rs11864909	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	16p12.3	UMOD	rs11864909-C	0.81	4E-10		0.0057	[0.0039-0.0075] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
740	chr16	20408376	20408377	rs12446492	24578125	Olden M	2014-02-27	J Am Soc Nephrol	Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.	Urinary uromodulin levels	10,884 European ancestry individuals	NA	16p12.3	PDILT	rs12446492-A	0.45	6E-27		0.15	[0.13-0.17] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
741	chr16	20449615	20449616	rs11647589	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p12.3	ACSM5	rs11647589-A	0.72	3E-11	(3-phenylpropionate (hydrocinnamate))	0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
741	chr16	20477473	20477474	rs6497490	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p12.3	ACSM2A	rs6497490-T	0.88	5E-27	(X-11478)	0.082	[0.066-0.098] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
741	chr16	20491057	20491058	rs1394678	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p12.3	ACSM2A	rs1394678-T	0.28	2E-20	(indolepropionate)	0.035	[0.027-0.043] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
741	chr16	20553482	20553483	rs9938198	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	16p12.3	ACSM2B	rs9938198-C	0.943	2E-6	(Case/control)	0.7999	[0.47-1.13] unit increase	Affymetrix, Illumina [NR] (imputed)	N
741	chr16	20555258	20555259	rs7499271	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	16p12.3	ACSM2B	rs7499271-A	0.25	6E-11	(Phenylacetate)	0.25	[NR] unit increase	Affymetrix [2341704] (imputed)	N
742	chr16	20674491	20674492	rs151222	18347602	Sullivan PF	2008-03-18	Mol Psychiatry	Genomewide association for schizophrenia in the CATIE study: results of stage 1.	Schizophrenia	417 European ancestry cases, 411 European ancestry controls, 217 African American cases, 219 African American controls, 104 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry cases, 103 American Indian, Asian, Pacific Islander or Hispanic/Latino ancestry controls	NA	16p12.3	ACSM1, BUCS1	rs151222-?	0.08	6E-6		2.1	[NR]	Affymetrix [492900]	N
742	chr16	20680205	20680206	rs433598	20185149	Athanasiu L	2010-02-23	J Psychiatr Res	Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.	Schizophrenia	201 European ancestry cases, 305 European ancestry controls	2,663 European ancestry cases, 13,780 European ancestry controls	16p12.3	ACSM1	rs433598-T	NR	3E-6		1.13	[NR]	Affymetrix [572888]	N
746	chr16	21113271	21113272	rs16970881	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-10)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	16p12.3	DNAH3	rs16970881-A		1E-7	(EA)			Illumina [NR]	N
753	chr16	22064394	22064395	rs1962636	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p12.2	NR	rs1962636-C	NR	8E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
759	chr16	22889185	22889186	rs2519974	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide)	168 Japanese ancestry cases, 335 Japanese ancestry controls	NA	16p12.2	HS3ST2	rs2519974-T	0.381	4E-6	(Dominant model)	1.647	[1.264-2.146]	Illumina [733202]	N
760	chr16	22950612	22950613	rs138450362	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p12.2	NR	rs138450362-?	NR	5E-8	(Japanese)	1.0668	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
760	chr16	23061940	23061941	rs72772480	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p12.2	NR	rs72772480-?	NR	2E-7	(Japanese)	0.6071	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
760	chr16	23067259	23067260	rs8049603	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	16p12.2	NR	rs8049603-T	0.20	1E-6		1.19	[NR]	Illumina [302098]	N
763	chr16	23401075	23401076	rs250585	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Egg allergy	217 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 688 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	16p12.2	COG7	rs250585-?	NR	4E-6				Illumina [6459842] (imputed)	N
765	chr16	23634025	23634026	rs420259	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	16p12.2	NR	rs420259-?	NR	9E-9	(recessive)			Affymetrix [NR]	N
765	chr16	23634025	23634026	rs420259	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	16p12.2	DCTN5, PALB2, NDUFAB1	rs420259-A	0.72	6E-8		2.08	[1.60-2.71]	Affymetrix [469557]	N
765	chr16	23640466	23640467	rs249954	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	16p12.2	NR	rs249954-A		2E-6	(Modelling analysis)	1.07	[1.04-1.10]	NR [1252901] (imputed)	N
766	chr16	23749776	23749777	rs11642421	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16p12.2	NR	rs11642421-?	NR	1E-7	(Japanese)	0.5307	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
766	chr16	23765773	23765774	rs4968031	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	16p12.2	AC130454.2, AC130454.1	rs4968031-?	NR	1E-6				Illumina [874956]	N
767	chr16	23864589	23864590	rs7404095	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p12.2	NR	rs7404095-G	0.58	2E-8	(EA)	1.0744067		Affymetrix, Illumina [~ 9000000] (imputed)	N
767	chr16	23864589	23864590	rs7404095	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p12.2	NR	rs7404095-G	0.58	3E-8	(EA)	1.0573224		Affymetrix, Illumina [~ 9000000] (imputed)	N
767	chr16	23864589	23864590	rs7404095	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	16p12.2	PRKCB	rs7404095-C	0.572	1E-9		1.06	[1.03-1.091]	Affymetrix, Illumina [1230000] (imputed)	N
767	chr16	23888839	23888840	rs7404928	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	16p12.2	PRKCB1	rs7404928-T	0.62	4E-6		1.08	[1.05-1.12]	Affymetrix, Illumina [1948139]	N
769	chr16	24240724	24240725	rs198160	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p12.1	NR	rs198160-G	NR	3E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
770	chr16	24363768	24363769	rs74013184	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	16p12.1	intergenic	rs74013184-C	0.006	7E-6		7.73	[2.71-22.03]	Illumina [1556551]	N
771	chr16	24508298	24508299	rs17761993	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	16p12.1	intergenic	rs17761993-?	NR	4E-6		2.49	[1.69-3.66]	Illumina [4196861] (imputed)	N
772	chr16	24531717	24531718	rs11643520	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	16p12.1	RBBP6	rs11643520-?	0.12	6E-7				Illumina [448293]	N
772	chr16	24578457	24578458	rs7195386	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p12.1	RBBP6	rs7195386-A	0.477	9E-6	(Vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
772	chr16	24621347	24621348	rs17831015	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	16p12.1	intergenic	rs17831015-?	NR	7E-6	(EDA Factor scores)	0.092	[0.051-0.133] unit increase	Illumina [527829]	N
772	chr16	24621347	24621348	rs17831015	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	16p12.1	intergenic	rs17831015-?	NR	3E-6	(SCR Frequency)	0.638	[0.37-0.90] unit increase	Illumina [527829]	N
773	chr16	24675588	24675589	rs8045064	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		16p12.1	FLJ45256	rs8045064-?	0.05	4E-8		0.21	unit decrease	Illumina [NR] (imputed)	N
774	chr16	24810680	24810681	rs17177078	23386860	Pasquale LR	2013-01-30	Front Genet	Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.	Type 2 diabetes (dietary heme iron intake interaction)	1,806 European ancestry cases, 2,965 European ancestry controls	NA	16p12.1	TNRC6A	rs17177078-?	NR	5E-6		0.83	[NR] unit increase	Affymetrix [681770]	N
774	chr16	24879962	24879963	rs12926788	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	16p12.1	NR	rs12926788-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
774	chr16	24898971	24898972	rs274068	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	16p12.1	SLC5A11	rs274068-C	NR	5E-7	(Recessive)	2.85	[1.93-4.22]	Affymetrix, Illumina [1621689] (imputed)	N
775	chr16	24931797	24931798	rs4788439	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p12.1	SLC5A11	rs4788439-T	0.08	7E-13	(myo-inositol)	0.027	[0.019-0.035] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
775	chr16	25002349	25002350	rs4787294	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16p12.1	SLC5A11	rs4787294-A	0.93	1E-20	(scyllo-inositol)	0.075	[0.059-0.091] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
782	chr16	25944543	25944544	rs117559033	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	16p12.1	NR	rs117559033-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
784	chr16	26129782	26129783	rs4129575	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	16p12.1	NR	rs4129575-A	NR	8E-6		1.31	[NR]	Illumina [up to 9792010] (imputed)	N
784	chr16	26170939	26170940	rs9933429	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p12.1	HS3ST4	rs9933429-A	0.305	7E-6	(Fat mass )	0.03	[NR] % increase	Illumina [899892]	N
786	chr16	26451442	26451443	rs11074779	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	16p12.1	HS3ST4, C16orf82	rs11074779-T	0.19	3E-8	(RAVLT-dr, EA)	0.4033	[0.26-0.55] unit increase	Affymetrix, Illumina [NR] (imputed)	N
786	chr16	26451442	26451443	rs11074779	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	16p12.1	HS3ST4, C16orf82	rs11074779-T	0.19	1E-7	(RAVLT-dr)	0.3757	[0.24-0.52] unit increase	Affymetrix, Illumina [NR] (imputed)	N
787	chr16	26517132	26517133	rs79090407	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p12.1	NR	rs79090407-A	NR	2E-6		1.12	[NR]	Illumina [7158791] (imputed)	N
791	chr16	27056454	27056455	rs2203512	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	16p12.1	AC092725.3	rs2203512-?	0.1394	3E-7	(PRM)			Illumina [475971]	N
792	chr16	27214983	27214984	rs16976587	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p12.1	JMJD5	rs16976587-A	0.0060	9E-6	(Folate )	0.02	[NR] nmol/L increase	Illumina [899892]	N
793	chr16	27371583	27371584	rs3024667	25488688	Pino-Yanes M	2014-12-06	J Allergy Clin Immunol	Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos.	Serum IgE levels	1,854 Hispanic asthmatic individuals, 1,480 Hispanic individuals	454 Hispanic asthmatic individuals	16p12.1	IL4R, IL21R	rs3024667-T	NR	2E-6		0.28	[0.17-0.39] unit decrease	Affymetrix [723888]	N
793	chr16	27374399	27374400	rs1801275	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	16p12.1	IL4R	rs1801275-G	NR	1E-7		0.05	[NR] unit increase	Affymetrix [2540223] (imputed)	N
794	chr16	27410828	27410829	rs2107357	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	16p12.1	IL21R, IL4R	rs2107357-A	0.1382	3E-7		0.0879	[0.054-0.122] unit increase	Illumina [2400000] (imputed)	N
794	chr16	27434926	27434927	rs8057551	19874204	Guo Y	2009-10-29	J Bone Miner Res	IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study.	Bone mineral density	983 European ancestry individuals	2,557 European ancestry individuals from 750 families	16p12.1	IL21R	rs8057551-G	0.32	2E-6		0.11	[NR] s.d. increase	Affymetrix [342854]	N
799	chr16	28052962	28052963	rs205391	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p12.1	GSG1L	rs205391-A	0.096	7E-6	(Height change )	0.03	[NR] cm/y increase	Illumina [899892]	N
801	chr16	28333410	28333411	rs2650492	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p12.1	SBK1	rs2650492-A	0.303	5E-6	(EA, women)	0.02	[0.011-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
801	chr16	28333410	28333411	rs2650492	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p12.1	SBK1	rs2650492-A	0.303	5E-6	(EA, men)	0.021	[0.012-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
801	chr16	28333410	28333411	rs2650492	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p12.1	SBK1	rs2650492-A	0.303	2E-9	(EA)	0.021	[0.014-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
801	chr16	28333410	28333411	rs2650492	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p12.1	SBK1	rs2650492-A	0.3	1E-9		0.021	[0.014-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
802	chr16	28490516	28490517	rs151181	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	16p12.1	IL27, SH2B1, EIF3C, LAT, CD19	rs151181-G	0.386	2E-11		1.07	[1.03-1.12]	Affymetrix, Illumina [953241] (imputed)	N
802	chr16	28517708	28517709	rs26528	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p11.2	NR	rs26528-G	0.4576	1E-6	(EA)	1.06364	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
802	chr16	28517708	28517709	rs26528	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p11.2	NR	rs26528-G	0.4576	1E-21	(EA)	1.1017768	[1.08-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
802	chr16	28517708	28517709	rs26528	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p11.2	NR	rs26528-G	0.4576	1E-22	(EA)	1.1273222	[1.1-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
802	chr16	28517708	28517709	rs26528	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	16p11.2	RABEP2, SULT1A1, SULT1A2, NUPR1, IL27, EIF3C	rs26528-C	0.451	1E-21		1.099	[1.067-1.13]	Affymetrix, Illumina [1230000] (imputed)	N
802	chr16	28539847	28539848	rs4788084	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	16p11.2	IL27	rs4788084-C	NR	1E-8	(T1D)	1.15	[NR]	Affymetrix, Illumina [NR]	N
802	chr16	28539847	28539848	rs4788084	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	16p11.2	IL27	rs4788084-G	0.42	3E-13		1.09	[1.02-1.16]	Affymetrix, Illumina [841622] (imputed)	N
805	chr16	28837514	28837515	rs8049439	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	16p11.2	ATXN2L, TUFM, SH2B1, EIF3CL, NFATC2IP, NUPR1, SPNS1, LAT, SULT1A1, SULT1A2, CCDC101	rs8049439-T	0.595	1E-6		0.021	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
805	chr16	28837514	28837515	rs8049439	23722424	Rietveld CA	2013-05-30	Science	GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.	Educational attainment	up to 101,069 European ancestry individuals	25,490 European ancestry individuals	16p11.2	ATXN2L	rs8049439-T	0.581	1E-7	(Edu Years)	0.086	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)	N
805	chr16	28837514	28837515	rs8049439	19915574	Imielinski M	2009-11-15	Nat Genet	Common variants at five new loci associated with early-onset inflammatory bowel disease.	Inflammatory bowel disease (early onset)	2,413 European ancestry cases, 6,158 European ancestry controls	1,013 European ancestry cases, 5,805 European ancestry controls	16p11.2	CCDC101, CLN3, SULT1A1, SULT1A2, NUPR1, IL27, EIF3C	rs8049439-G	0.37	2E-9		1.14	[1.00-1.30]	Illumina [~ 500000]	N
805	chr16	28865041	28865042	rs62037363	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p11.2	NR	rs62037363-?	NR	6E-22	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
805	chr16	28883240	28883241	rs7498665	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16p11.2	SH2B1	rs7498665-G	0.4	5E-12	(Overweight)	1.05	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
805	chr16	28883240	28883241	rs7498665	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16p11.2	SH2B1	rs7498665-G	0.4	3E-13	(Obesity class I)	1.07	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
805	chr16	28883240	28883241	rs7498665	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	16p11.2	SH2B1	rs7498665-G	0.41	5E-11		0.15	[0.08-0.21] kg/m2 increase	Affymetrix, Illumina [2399588] (imputed)	N
805	chr16	28883240	28883241	rs7498665	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	16p11.2	ATP2A1, SH2B1	rs7498665-G	0.44	1E-9		3.69	[2.51-4.87] percentage SD increase	Illumina [305846]	N
805	chr16	28883240	28883241	rs7498665	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	16p11.2	ATP2A1, SH2B1	rs7498665-G	0.44	3E-10		3.63	[2.49-4.77] % SD increase	Illumina [305846]	N
805	chr16	28885658	28885659	rs7359397	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	16p11.2	APOB48R, SULT1A2, AC138894.2, ATXN2L, TUFM, SH2B1	rs7359397-T	0.40	2E-20		0.15	[0.11-0.19] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
805	chr16	28889485	28889486	rs3888190	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p11.2	ATP2A1	rs3888190-A	0.403	4E-12	(EA, women)	0.028	[0.02-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
805	chr16	28889485	28889486	rs3888190	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p11.2	ATP2A1	rs3888190-A	0.403	3E-23	(EA)	0.031	[0.025-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
805	chr16	28889485	28889486	rs3888190	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p11.2	ATP2A1	rs3888190-A	0.402	1E-17	(EA, men)	0.035	[0.027-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
805	chr16	28889485	28889486	rs3888190	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p11.2	ATP2A1	rs3888190-A	0.397	3E-25		0.031	[0.025-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
805	chr16	28921808	28921809	rs7184597	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16p11.2	RABEP2, SH2B1	rs7184597-T	0.33	7E-9	(Obesity class II)	1.1	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
808	chr16	29246101	29246102	rs194045	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	16p11.2	Intergenic	rs194045-G	0.888	6E-6	(Trend model)	2.13	[1.51-3.02]	Illumina [508761]	N
812	chr16	29882489	29882490	rs12917712	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	16p11.2	SEZ6L2	rs12917712-T	0.29	7E-6		1.07		Illumina [2100739] (imputed)	N
813	chr16	29885446	29885447	rs4787483	19260139	Polasek O	2009-02-01	Croat Med J	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Anthropometric traits	898 Korculan individuals	NA	16p11.2	SEZ6L2	rs4787483-?	0.34	2E-6	(waist cirumference)	0.16	[0.09-0.23] mm increase	Illumina [316730]	N
813	chr16	29906545	29906546	rs4787484	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	16p11.2	SEZ6L2	rs4787484-?	NR	1E-6				Affymetrix, Illumina [~ 1300000]	N
813	chr16	29918033	29918034	rs1129700	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	16p11.2	KCTD13, TBX6	rs1129700-T	0.44	2E-9		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
813	chr16	29939876	29939877	rs12691307	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16p11.2	NR	rs12691307-A	NR	2E-10		1.07	[NR]	Illumina [7158791] (imputed)	N
813	chr16	29939876	29939877	rs12691307	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	16p11.2	ALDOA, ASPHD1, C16orf92, DOC2A, FAM57B, GDPD3, HIRIP3, INO80E, KCTD13, MAPK3, PPP4C, SEZ6L2, TAOK2, TBX6, TMEM219, YPEL3	rs12691307-A	0.51	5E-11		1.073	[1.051-1.096]	Affymetrix, Illumina [9005918] (imputed)	N
813	chr16	29967433	29967434	rs4788196	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	16p11.2	MAPK3	rs4788196-G	0.44	9E-11	(Single Height)	0.07	[0.048-0.092] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
813	chr16	30015336	30015337	rs4787491	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p11.2	INO80E	rs4787491-G	0.509	2E-6	(EA)	0.016	[0.0092-0.0226] kg/m2 increase	Affymetrix, Illumina [2550021]	N
813	chr16	30015336	30015337	rs4787491	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p11.2	INO80E	rs4787491-G	0.509	2E-6		0.015	[0.0088-0.0214] kg/m2 increase	Affymetrix, Illumina [2550021]	N
817	chr16	30482493	30482494	rs11150589	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p11.2	NR	rs11150589-A	0.4732	3E-10	(EA)	1.0831269	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
817	chr16	30482493	30482494	rs11150589	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	16p11.2	NR	rs11150589-A	0.4732	9E-7	(EA)	1.0513153	[1.03-1.07]	Affymetrix, Illumina [~ 9000000] (imputed)	N
817	chr16	30482493	30482494	rs11150589	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	16p11.2	ITGAL	rs11150589-T	0.463	6E-10		1.09	[1.052-1.128]	Affymetrix, Illumina [1230000] (imputed)	N
817	chr16	30492822	30492823	rs1064524	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	16p11.2	ITGAL	rs1064524-T	0.0485	2E-7		0.5404	[NR] unit increase	Illumina [1216189] (imputed)	N
818	chr16	30635658	30635659	rs7186852	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	16p11.2	NR	rs7186852-A	0.08	3E-7		1.29	[1.17-1.42]	Illumina [493955]	N
818	chr16	30642866	30642867	rs7197475	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	16p11.2	NR	rs7197475-A	0.08	3E-8		1.31	[1.20-1.46]	Illumina [493955]	N
820	chr16	30918486	30918487	rs11649653	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	16p11.2	CTF1	rs11649653-G	0.4	2E-7		0.027	[NR] mg/dL decrease	NR [NR] (imputed)	N
820	chr16	30918486	30918487	rs11649653	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	16p11.2	CTF1	rs11649653-G	0.4	3E-8		2.13	[1.37-2.89] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
821	chr16	30942624	30942625	rs10782001	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	16p11.2	FBXL19, STX1B	rs10782001-C	NR	3E-7		1.167	[1.101-1.238]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
821	chr16	30942624	30942625	rs10782001	20953189	Stuart PE	2010-10-17	Nat Genet	Genome-wide association analysis identifies three psoriasis susceptibility loci.	Psoriasis	Up to 1,831 cases, up to 2,546 controls	Up to 4,064 cases, up to 4,685 controls	16p11.2	FBXL19, POL3S	rs10782001-G	0.37	9E-10		1.16	[NR]	Illumina, Perlegen [up to 7456344] (imputed)	N
821	chr16	31000808	31000809	rs13708	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	16p11.2	FBXL19	rs13708-G	0.35822	2E-8		1.19	[1.12-1.26]	Illumina [up to 4778154] (imputed)	N
821	chr16	31000808	31000809	rs13708	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	16p11.2	FBXL19	rs13708-G	0.079839	8E-7	(Chinese)	1.55	[1.3-1.85]	Illumina [up to 4778154] (imputed)	N
821	chr16	31048078	31048079	rs10871454	18535201	Cooper GM	2008-06-05	Blood	A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.	Warfarin maintenance dose	181 European ancestry individuals	374 European ancestry individuals	16p11.2	VKORC1	rs10871454-?	NR	5E-34				Illumina [538629]	N
822	chr16	31095170	31095171	rs11865038	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	16p11.2	POL3S	rs11865038-?	NR	4E-7		1.14	[NR]	Illumina [2500000] (imputed)	N
822	chr16	31107688	31107689	rs9923231	20833655	Cha PC	2010-09-10	Hum Mol Genet	Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese.	Warfarin maintenance dose	807 Japanese ancestry low dose individuals, 701 Japanese ancestry high dose individuals	444 Japanese ancestry individuals	16p11.2	VKORC1	rs9923231-?	NR	9E-31				Illumina [485227]	N
822	chr16	31107688	31107689	rs9923231	19300499	Takeuchi F	2009-03-20	PLoS Genet	A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.	Warfarin maintenance dose	1,053 European ancestry individuals	588 European ancestry individuals	16p11.2	VKORC1	rs9923231-T	0.40	3E-181		0.97	[0.91-1.02] mg/week decrease	Illumina [325997]	N
822	chr16	31121792	31121793	rs14235	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	16p11.2	BCKDK, STX1B	rs14235-A	0.381	2E-12		1.103	[1.08-1.13]	Illumina [7893274] (imputed)	N
822	chr16	31129894	31129895	rs9925964	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p11.2	KAT8	rs9925964-A	0.623	9E-11		0.02	[0.014-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
822	chr16	31129894	31129895	rs9925964	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p11.2	KAT8	rs9925964-A	0.62	8E-10	(EA)	0.019	[0.013-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
822	chr16	31129894	31129895	rs9925964	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16p11.2	KAT8	rs9925964-A	0.62	2E-6	(EA, women)	0.02	[0.012-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
823	chr16	31298938	31298939	rs9937837	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	16p11.2	ITGAM	rs9937837-G	0.02	7E-6		1.86		Illumina [2100739] (imputed)	N
823	chr16	31313252	31313253	rs9888739	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	16p11.2	ITGAM	rs9888739-T	0.13	4E-11		1.638	[1.512-1.78]	Illumina [NR]	N
823	chr16	31313252	31313253	rs9888739	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	16p11.2	ITGAM	rs9888739-T	0.13	1E-15	(anti-dsDNA +)	1.8	[1.56-2.07]	Illumina [421318] (imputed)	N
823	chr16	31313252	31313253	rs9888739	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	16p11.2	ITGAM	rs9888739-T	0.13	2E-23		1.62	[1.47-1.78]	Illumina [317501]	N
824	chr16	31326705	31326706	rs11860650	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	16p11.2	ITGAM	rs11860650-?	NR	1E-10		1.319	[NR]	Illumina [NR]	N
824	chr16	31334235	31334236	rs11150610	19165918	Graham RR	2008-08-01	Nat Genet	Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.	Systemic lupus erythematosus	431 European ancestry cases, 2,155 European ancestry controls	447 European ancestry trios, 293 trios	16p11.2	ITGAM	rs11150610-?	0.42	2E-6			[NR]	Affymetrix [313238]	N
824	chr16	31347747	31347748	rs3925075	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	16p11.2	intergenic	rs3925075-?	NR	5E-6		1.15	[1.09-1.23]	Illumina [444882]	N
824	chr16	31357759	31357760	rs11150612	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	16p11.2	ITGAM, ITGAX	rs11150612-A	0.36	1E-8	(EA)	1.19	[NR]	Illumina [> 1000000] (imputed)	N
824	chr16	31357759	31357760	rs11150612	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	16p11.2	ITGAM, ITGAX	rs11150612-A	0.36	1E-11		1.18	[NR]	Illumina [> 1000000] (imputed)	N
824	chr16	31368177	31368178	rs7190997	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	16p11.2	ITGAX-ITGAM	rs7190997-C	0.692	2E-19		1.223	[1.171-1.278]	Illumina [3792949] (imputed)	N
824	chr16	31368873	31368874	rs11574637	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	16p11.2	ITGAM, ITGAX	rs11574637-T	0.82	8E-13	(EA)	1.32	[NR]	Illumina [> 1000000] (imputed)	N
824	chr16	31368873	31368874	rs11574637	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	16p11.2	ITGAM, ITGAX	rs11574637-C	0.19	3E-11		1.33	[1.22-1.46]	Illumina [502033]	N
832	chr16	32480923	32480924	rs13380637	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	16p11.2	intergenic	rs13380637-?	NR	5E-6	(SF4)			Affymetrix [5476100] (imputed)	N
835	chr16	32877435	32877436	rs1820772	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16p11.2	NR	rs1820772-?	NR	2E-7	(Japanese)	0.6803	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
847	chr16	34377823	34377824	rs190542424	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16p11.2	NR	rs190542424-?	NR	4E-7	(EA)	1.3492	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
849	chr16	34682192	34682193	rs62057608	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16p11.1	TP53TG3B	rs62057608-A	0.028	4E-6	(Diet fat )	0.03	[NR] g/d increase	Illumina [899892]	N
850	chr16	34850617	34850618	rs149133508	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16p11.1	NR	rs149133508-?	NR	5E-7	(EA)	1.4324	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
852	chr16	35088130	35088131	rs12599426	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		16p11.1	LOC729355	rs12599426-T	NR	3E-6		0.0243	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
952	chr16	48180109	48180110	rs16945894	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	16q12.1	ABCC12	rs16945894-?		9E-6				Illumina [859311]	N
955	chr16	48621401	48621402	rs6500395	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	16q12.1	ENSG00000102921	rs6500395-?	0.35	6E-7	(CSJC, RF+)	2.2	[NR] unit increase	Illumina [534053]	N
959	chr16	49062589	49062590	rs2080454	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q12.1	CBLN1	rs2080454-C	0.413	9E-9		0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
959	chr16	49062589	49062590	rs2080454	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q12.1	CBLN1	rs2080454-C	0.405	7E-8	(EA)	0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
959	chr16	49142505	49142506	rs16946931	24133439	Jones RM	2013-10-11	Front Hum Neurosci	Genome-wide association study of autistic-like traits in a general population study of young adults.	Social autistic-like traits	965 European ancestry young adult individuals	NA	16q12.1	N4BP1, CBLN1	rs16946931-C		2E-6		1.681	[1-2.37] unit increase	Illumina [2462046] (imputed)	N
961	chr16	49394275	49394276	rs8057939	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	16q12.1	C16orf78	rs8057939-?	NR	5E-6	(rs6465657)	1.37	[1.20-1.57]	Affymetrix, Illumina [1117531] (imputed)	N
963	chr16	49643565	49643566	rs2080501	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16q12.1	NR	rs2080501-G	0.532905723186471	5E-6	(IGP76)	0.141	[0.081-0.201] unit decrease	Illumina [~ 2500000] (imputed)	N
963	chr16	49643565	49643566	rs2080501	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16q12.1	NR	rs2080501-G	0.532295847079804	4E-6	(IGP75)	0.1421	[0.082-0.203] unit increase	Illumina [~ 2500000] (imputed)	N
963	chr16	49652778	49652779	rs16944158	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16q12.1	NR	rs16944158-G	0.271065156389634	4E-6	(IGP74)	0.162	[0.093-0.231] unit decrease	Illumina [~ 2500000] (imputed)	N
964	chr16	49750789	49750790	rs17281813	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	16q12.1	ZNF423	rs17281813-?	NR	3E-6	(binary)			Perlegen [429981]	N
964	chr16	49786257	49786258	rs141854787	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (age at onset)	5,148 European ancestry users	NA	16q12.1	NR	rs141854787-T		6E-6		0.35	[0.21-0.49] unit increase	NR [5896100] (imputed)	N
965	chr16	49864790	49864791	rs2047937	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	16q12.1	ZNF423	rs2047937-C	0.4983	6E-6		0.015	[0.0085-0.0215] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
965	chr16	49864790	49864791	rs2047937	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	16q12.1	ZNF423	rs2047937-C	0.4976	4E-6	(EA)	0.0159	[0.0092-0.0226] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
966	chr16	50013966	50013967	rs12597023	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	16q12.1	intergenic	rs12597023-?	NR	6E-6	(Alpha peak frequency, occipital	0.089	[0.05-0.128] unit increase	Illumina [527829]	N
967	chr16	50103733	50103734	rs4785204	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer (squamous cell)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	16q12.1	HEATR3	rs4785204-T	0.26	2E-20		1.24	[1.18-1.29]	NR [NR]	N
967	chr16	50142943	50142944	rs8046148	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	16q12.1	HEATR3	rs8046148-G	0.79	4E-9		1.32	[1.17-1.48]	Illumina [307291]	N
967	chr16	50142943	50142944	rs8046148	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	16q12.1	HEATR3	rs8046148-?	NR	3E-6		1.2	[1.11-1.30]	Illumina [NR]	N
968	chr16	50277213	50277214	rs11864208	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	16q12.1	PAPD5	rs11864208-C	NR	4E-6		1.27	[NR]	Illumina [up to 9792010] (imputed)	N
969	chr16	50437527	50437528	rs9941219	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	16q12.1	BRD7	rs9941219-A	0.024	4E-6		0.154	[0.089-0.219] unit increase	Illumina [747076]	N
971	chr16	50714334	50714335	rs2270368	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	16q12.1	NOD2	rs2270368-G	0.304	1E-67		1.5	[NR]	Illumina [4577171] (imputed)	N
971	chr16	50719102	50719103	rs9302752	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	16q12.1	NOD2	rs9302752-G	0.29	4E-40		1.59	[1.49-1.71]	Illumina [491883]	N
972	chr16	50739581	50739582	rs17221417	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	16q12.1	NOD2	rs17221417-G	0.29	4E-11		1.29	[1.13-1.46]	Affymetrix [469557]	N
972	chr16	50756773	50756774	rs5743289	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	16q12.1	NOD2	rs5743289-T	0.17	4E-10		1.46	[1.29-1.64]	Illumina [NR]	N
972	chr16	50756773	50756774	rs5743289	17804789	Raelson JV	2007-09-05	Proc Natl Acad Sci U S A	Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.	Crohn's disease	382 French Canadian founder trios	750 European ancestry cases, 828 European ancestry controls, 521 European ancestry trios	16q12.1	NOD2	rs5743289-?	NR	6E-17				Perlegen [164279]	N
972	chr16	50756773	50756774	rs5743289	17447842	Libioulle C	2007-03-05	PLoS Genet	Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.	Crohn's disease	547 European ancestry cases, 928 European ancestry controls	1,266 European ancestry cases, 559 European ancestry controls, Up to 428 European ancestry trios	16q12.1	CARD15	rs5743289-?	NR	1E-6				Illumina [302451]	N
972	chr16	50756880	50756881	rs2076756	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	16q12.1	NOD2	rs2076756-G	NR	3E-10		1.46	[NR]	Illumina [508934]	N
972	chr16	50756880	50756881	rs2076756	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	16q12.1	NOD2, SNX20, NKD1, CYLD	rs2076756-G	0.246	1E-37		1.66	[1.48-1.88]	Affymetrix, Illumina [1060934] (imputed)	N
972	chr16	50756880	50756881	rs2076756	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	16q12.1	NOD2	rs2076756-G	0.26	4E-69		1.53	[1.46-1.60]	Affymetrix, Illumina [953241] (imputed)	N
972	chr16	50756880	50756881	rs2076756	17684544	Franke A	2007-08-08	PLoS One	Systematic association mapping identifies NELL1 as a novel IBD disease gene.	Crohn's disease	393 European ancestry cases, 399 European ancestry controls	375 European ancestry trios, 1,395 European ancestry cases, 1,603 European ancestry controls, 454 French Canadian founder trios, 466 French Canadian founder cases, 358 French Canadian founder controls	16q12.1	CARD15	rs2076756-?	0.27	1E-21		1.71	[1.42-2.05]	Affymetrix [92387]	N
972	chr16	50756880	50756881	rs2076756	17435756	Rioux JD	2007-04-15	Nat Genet	Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.	Crohn's disease	946 cases, 977 controls	530 trios, 353 cases, 207 controls	16q12.1	CARD15	rs2076756-?	0.24	7E-14				Illumina [304413]	N
972	chr16	50756880	50756881	rs2076756	17068223	Duerr RH	2006-10-26	Science	A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.	Inflammatory bowel disease	547 European ancestry cases, 548 European ancestry controls	1,151 cases from 595 families, 433 controls	16q12.1	CARD15	rs2076756-?	NR	5E-10				Illumina [308332]	N
972	chr16	50763778	50763778	rs2066847	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	16q12.1	NOD2, ADCY7	rs2066847-T	0.024	6E-209		3.103	[1.497-1.618]	Affymetrix, Illumina [1230000] (imputed)	N
972	chr16	50763778	50763778	rs2066847	20570966	McGovern DP	2010-06-22	Hum Mol Genet	Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.	Crohn's disease	896 European ancestry cases, 3,204 European ancestry controls	1,174 European ancestry cases, 357 European ancestry controls	16q12.1	NOD2	rs2066847-?	NR	2E-15		1.62	[1.42-1.86]	Illumina [304825]	N
972	chr16	50763778	50763778	rs2066847	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	16q12.1	NOD2	rs2066847-C	0.02	3E-24		3.99	[NR]	Affymetrix, Illumina [635547] (imputed)	N
972	chr16	50781801	50781802	rs8060598	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	16q12.1	NOD2, CYLD	rs8060598-C	0.167	5E-6		1.14	[NR]	Illumina [4577171] (imputed)	N
972	chr16	50854417	50854418	rs16948876	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	16q12.1	NOD2, CYLD	rs16948876-A	0.041	4E-11		1.39	[NR]	Illumina [4577171] (imputed)	N
972	chr16	50854417	50854418	rs16948876	22019778	Zhang F	2011-10-23	Nat Genet	Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.	Leprosy	706 Han Chinese ancestry cases, 5,581 Han Chinese ancestry controls	3,301 Han Chinese ancestry cases, 5,299 Han Chinese ancestry controls	16q12.1	CYLD	rs16948876-A	0.03	2E-10		1.56	[1.36-1.79]	NR [1701673] (imputed)	N
973	chr16	50986307	50986308	rs1564981	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	16q12.1	CYLD	rs1564981-A	0.5	2E-10	(LSBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
974	chr16	51021802	51021803	rs1566045	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	16q12.1	SALL1	rs1566045-T	0.8	2E-22	(FNBMD)	0.06	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
975	chr16	51158709	51158710	rs10521222	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	16q12.1	SALL1	rs10521222-C	NR	9E-13		0.104	[0.07-0.13] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
975	chr16	51245486	51245487	rs7185923	23643386	Hatoum IJ	2013-05-02	Am J Hum Genet	Weight loss after gastric bypass is associated with a variant at 15q26.1.	Weight loss (gastric bypass surgery)	693 European ancestry individuals	327 European ancestry individuals	16q12.1	SALL1	rs7185923-C	NR	4E-6		1.89	[1.09-2.69] unit decrease	Illumina [1943170] (imputed)	N
976	chr16	51330530	51330531	rs4131099	20691247	Verweij KJ	2010-08-04	Biol Psychol	A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.	Personality dimensions	5,117 European ancestry individuals from 2567 families	NA	16q12.1	intergenic	rs4131099-A	0.22	4E-6	(Novelty Seeking)	0.11	[NR] unit increase	Affymetrix, Illumina [1252387] (imputed)	N
977	chr16	51428907	51428908	rs11646917	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	16q12.1	SALL1	rs11646917-T	0.27	2E-8	(EA)	0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
977	chr16	51428907	51428908	rs11646917	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	16q12.1	SALL1	rs11646917-T	0.27	2E-8		0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
977	chr16	51458289	51458290	rs1362756	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	16q12.1	SALL1	rs1362756-C	0.29	9E-11		0.033	[0.023-0.043] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
977	chr16	51458289	51458290	rs1362756	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	16q12.1	SALL1	rs1362756-C	0.29	2E-11	(EA)	0.037	[0.025-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
977	chr16	51458289	51458290	rs1362756	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Optic disc parameters	7,360 European ancestry individuals	4,455 European ancestry individuals	16q12.1	SALL1	rs1362756-C	0.28	5E-9		0.03	[0.02-0.04] mm increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
977	chr16	51482320	51482321	rs1345467	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	16q12.1	SALL1	rs1345467-G	NR	4E-13		0.01	[0.0080-0.0120] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
978	chr16	51609946	51609947	rs2030114	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	16q12.1	SALL1	rs2030114-A	0.01	7E-13	(DBP, during intervention)	3.14	[2.28-4.00] mmHg decrease	Affymetrix [2216774] (imputed)	N
978	chr16	51609946	51609947	rs2030114	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	16q12.1	SALL1	rs2030114-A	0.01	2E-6	(MAP, during intervention)	4.12	[2.43-5.81] mmHg decrease	Affymetrix [2216774] (imputed)	N
979	chr16	51715874	51715875	rs1381451	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	16q12.1	intergenic	rs1381451-?		7E-6				NR [~ 3000000] (imputed)	N
981	chr16	51961542	51961543	rs11076221	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	16q12.1	C16orf97	rs11076221-G	0.94	9E-6		1.57	[1.37-1.77]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
984	chr16	52321975	52321976	rs16951021	19901119	Trevino LR	2009-11-09	J Clin Oncol	Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.	Methotrexate phramacokinetics (acute lymphoblastic leukemia)	315 European ancestry cases, 73 African American cases, 5 Asian ancestry cases, 247 cases	NA	16q12.1	intergenic	rs16951021-T	0.01	3E-7			[NR]	Affymetrix [398699]	N
984	chr16	52347818	52347819	rs4784165	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	16q12.1	TOX3	rs4784165-G	0.325	4E-11		1.15	[NR]	Affymetrix [NR] (imputed)	N
986	chr16	52566453	52566454	rs2193094	25956309	Palomba G	2015-05-10	BMC Cancer	Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.	Breast cancer	1,367 Sardinian cases, 1,658 Sardinian controls	201 Sardinian cases, 1,467 Sardinian controls, 61,485 European ancestry cases, 60,860 European ancestry controls	16q12.1	TOX3	rs2193094-?	0.478	2E-7		1.337	(1.198-1.491)	Affymetrix [2067645] (imputed)	N
986	chr16	52575906	52575907	rs4784223	24493630	Ahsan H	2014-02-03	Cancer Epidemiol Biomarkers Prev	A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.	Breast cancer (early onset)	3,523 European ancestry young female cases, 2,702 European ancestry young female controls	3,470 European ancestry young female cases, 5,475 European ancestry young female controls	16q12.1	TOX3	rs4784223-?	0.29	6E-21		1.27	[1.21-1.34]	Illumina [1265548] (imputed)	N
986	chr16	52586340	52586341	rs3803662	24143190	Low SK	2013-10-15	PLoS One	Genome-wide association study of breast cancer in the Japanese population.	Breast cancer	2,642 Japanese ancestry cases, 2,099 Japanese ancestry controls	2,885 Japanese ancestry cases, 3,395 Japanese ancestry controls	16q12.1	TOX3, LOC643714	rs3803662-T	0.522	3E-11		1.213	[1.146-1.284]	Illumina [5335291] (imputed)	N
986	chr16	52586340	52586341	rs3803662	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	16q12.1	TOX3	rs3803662-T	0.267	6E-13		1.14	[1.10-1.18]	Illumina [NR]	N
986	chr16	52586340	52586341	rs3803662	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	16q12.1	TOX3	rs3803662-A	0.26	2E-114		1.24	[1.21-1.27]	Affymetrix, Illumina [~ 2600000] (imputed)	N
986	chr16	52586340	52586341	rs3803662	23001122	Orr N	2012-09-23	Nat Genet	Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.	Breast cancer (male)	823 European ancestry cases, 2,795 European ancestry controls	438 European ancestry cases, 474 European ancestry controls	16q12.1	LOC643174, TOX3	rs3803662-?	NR	4E-15		1.5	[1.35-1.66]	Illumina [447760]	N
986	chr16	52586340	52586341	rs3803662	20872241	Li J	2010-09-26	Breast Cancer Res Treat	A combined analysis of genome-wide association studies in breast cancer.	Breast cancer	2,702 European ancestry female cases, 5,726 European ancestry controls	Up to 7,386 cases, 7,576 controls	16q12.1	TOX3	rs3803662-A	0.30	4E-7		1.22	[1.13-1.32]	Illumina [285984]	N
986	chr16	52586340	52586341	rs3803662	20453838	Turnbull C	2010-05-09	Nat Genet	Genome-wide association study identifies five new breast cancer susceptibility loci.	Breast cancer	3,659 European ancestry cases, 4,897 European ancestry controls	12,576 European ancestry cases, 12,223 European ancestry controls	16q12.1	TOX3	rs3803662-A	0.26	3E-15		1.3	[1.22-1.39]	Illumina [582886]	N
986	chr16	52586340	52586341	rs3803662	19330030	Thomas G	2009-03-29	Nat Genet	A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).	Breast cancer	1,145 European ancestry cases, 1,142 European ancestry controls	8,625 European ancestry cases, 9,657 European ancestry controls	16q12.1	TOX3	rs3803662-T	0.27	1E-9		1.16	[1.07-1.27] (Het)	Illumina [528173]	N
986	chr16	52586340	52586341	rs3803662	17529974	Stacey SN	2007-05-27	Nat Genet	Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.	Breast cancer	1,599 European ancestry cases, 11,546 European ancestry controls	2,954 European ancestry cases, 5,967 European ancestry controls, Up to 561 Japanese ancestry cases, Up to 565 Japanese ancestry control, Up to 422 African American cases, Up to 448 African American controls, Up to 418 Hispanic cases, Up to 422 Hispanic controls, Up to 148 cases, Up to 293 controls	16q12.1	TNRC9	rs3803662-T	0.27	6E-19		1.28	[1.21-1.35]	Illumina [311524]	N
986	chr16	52586340	52586341	rs3803662	17529967	Easton DF	2007-05-27	Nature	Genome-wide association study identifies novel breast cancer susceptibility loci.	Breast cancer	390 cases,364 controls	26,646 cases,24,889 controls	16q12.1	TNRC9, LOC643714	rs3803662-T	0.25	1E-36		1.2	[1.16-1.24]	Perlegen [205586]	N
986	chr16	52599187	52599188	rs4784227	25327703	Fejerman L	2014-10-20	Nat Commun	Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.	Breast cancer	1,497 Latino cases, 3,213 Latino controls	1,643 Latino cases, 4,971 Latino controls	16q12.1	TOX3	rs4784227-T	0.31	3E-9		1.38	[1.24-1.54]	Affymetrix, Illumina [7229558] (imputed)	N
986	chr16	52599187	52599188	rs4784227	20585626	Long J	2010-06-24	PLoS Genet	Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium.	Breast cancer	2,073 Chinese ancestry cases, 2,084 Chinese ancestry controls	15,159 East Asian ancestry cases, 12,993 East Asian ancestry controls, 2,797 European ancestry cases, 2,662 European ancestry controls	16q12.1	TOX3	rs4784227-T	0.24	1E-28	(all races combined)	1.24	[1.20-1.29]	Affymetrix [684457]	N
986	chr16	52624737	52624738	rs3104767	21779176	Winkelmann J	2011-07-14	PLoS Genet	Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.	Restless legs syndrome	922 European ancestry cases, 1,526 European ancestry controls	3,935 European ancestry cases, 5,754 European ancestry controls	16q12.1	TOX3, BC034767	rs3104767-G	0.58	9E-19		1.35	[1.27-1.43]	Affymetrix [301406]	N
986	chr16	52634999	52635000	rs12922061	24143190	Low SK	2013-10-15	PLoS One	Genome-wide association study of breast cancer in the Japanese population.	Breast cancer	2,642 Japanese ancestry cases, 2,099 Japanese ancestry controls	2,885 Japanese ancestry cases, 3,395 Japanese ancestry controls	16q12.2	TOX3, LOC643714	rs12922061-T	0.241	4E-10		1.231	[1.153-1.314]	Illumina [5335291] (imputed)	N
986	chr16	52635163	52635164	rs3112612	21263130	Fletcher O	2011-01-24	J Natl Cancer Inst	Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.	Breast cancer	2,839 European ancestry cases, 3,507 European ancestry controls	9,041 European ancestry cases, 8,980 European ancestry controls	16q12.2	TOX3	rs3112612-T	0.43	4E-10		1.15	[1.10-1.21]	Illumina [~ 296114]	N
988	chr16	52831461	52831462	rs6499100	23297363	Cordell HJ	2013-01-07	Hum Mol Genet	Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.	Tetralogy of Fallot	835 European ancestry cases, 5,159 European ancestry controls	798 European ancestry cases, 2,931 European ancestry controls	16q12.2	intergenic	rs6499100-A	0.519	1E-6		1.26	[1.14-1.4]	Illumina [516131]	N
988	chr16	52884528	52884529	rs117322171	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Black vs. non-black hair color	196 European ancestry black hair individuals, 6,895 European ancestry non-black hair individuals	NA	16q12.2	MC1R	rs117322171-?	0.014	4E-9		452.3873	[450.35-454.43]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
988	chr16	52912298	52912299	rs1344484	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	16q12.2	RPGRIP1L	rs1344484-?	NR	2E-6	(addtive)			Affymetrix [NR]	N
988	chr16	52947629	52947630	rs117145500	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	16q12.2	LOC643714	rs117145500-C	0.063	2E-8	(FAI)	0.276	[NR] unit decrease	Illumina [7879351] (imputed)	N
989	chr16	53073787	53073788	rs10852453	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16q12.2	NR	rs10852453-T	0.502934347747748	1E-6	(IGP20)	0.1462	[0.088-0.205] unit decrease	Illumina [~ 2500000] (imputed)	N
990	chr16	53192330	53192331	rs7204230	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	16q12.2	CHD9	rs7204230-T	0.7	1E-10	(EA)	0.008	[0.006-0.01] unit increase	Affymetrix, Illumina [2515567] (imputed)	N
992	chr16	53376458	53376459	rs2080364	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16q12.2	NR	rs2080364-?	NR	2E-6	(EA)	0.2572	[0.15-0.36] unit increase	Illumina [up to 11892802] (imputed)	N
993	chr16	53537422	53537423	rs3743772	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	16q12.2	AKTIP	rs3743772-A	0.07	2E-6		0.64	[0.44-0.84] unit decrease	Illumina [NR] (imputed)	N
994	chr16	53639437	53639438	rs3213758	23678272	Cheong KA	2013-05-02	J Korean Med Sci	Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.	Vitiligo (non-segmental)	20 Korean ancestry cases, 192 Korean ancestry controls	184 Korean ancestry cases, 192 Korean ancestry controls	16q12.2	KIAA1005	rs3213758-A	.497	6E-11		2.77	[2.04-3.76]	Affymetrix [500568]	N
995	chr16	53757739	53757740	rs1421084	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	16q12.2	FTO	rs1421084-A	0.97	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
995	chr16	53769676	53769677	rs6499640	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	16q12.2	FTO	rs6499640-A	0.65	6E-14		5.5	[4.07-6.93] percentage SD increase	Illumina [305846]	N
995	chr16	53769676	53769677	rs6499640	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	16q12.2	FTO	rs6499640-A	0.41	4E-13		5.25	[3.82-6.68] % SD increase	Illumina [305846]	N
995	chr16	53800753	53800754	rs9940128	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	16q12.2	FTO	rs9940128-A	0.44	4E-23		0.083	[0.067-0.099] unit increase	Affymetrix, Illumina [557887] (imputed)	N
995	chr16	53800753	53800754	rs9940128	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	16q12.2	FTO	rs9940128-A	0.42	2E-9	(Waist)	0.09	[NR] cm increase	Illumina [1257079] (imputed)	N
995	chr16	53800953	53800954	rs1421085	23636237	Tanaka T	2013-05-01	Am J Clin Nutr	Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.	Dietary macronutrient intake	37,537 European ancestry individuals	41,257 European ancestry individuals	16q12.2	FTO	rs1421085-C	0.42	1E-9	(Protein)	0.1	[0.061-0.139] % increase	Affymetrix, Illumina [2500000] (imputed)	N
995	chr16	53800953	53800954	rs1421085	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	16q12.2	FTO	rs1421085-C	0.41	3E-28		1.44	[1.35-1.54]	Affymetrix [~ 2000000] (imputed)	N
995	chr16	53800953	53800954	rs1421085	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16q12.2	FTO	rs1421085-C	0.41	6E-39	(Obesity class III)	1.45	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
995	chr16	53800953	53800954	rs1421085	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	16q12.2	FTO	rs1421085-C	0.41	5E-13	(adults)	1.25	[1.10-1.40]	Illumina [308846]	N
995	chr16	53800953	53800954	rs1421085	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	16q12.2	FTO	rs1421085-C	0.4	7E-18	(children)	1.39	[1.27-1.51]	Illumina [308846]	N
995	chr16	53800953	53800954	rs1421085	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	16q12.2	FTO	rs1421085-C	0.4	1E-28				Illumina [308846]	N
995	chr16	53803573	53803574	rs1558902	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index (age interaction)	9,377 children and adolescents	3,918 European ancestry children and adolescents	16q12.2	FTO	rs1558902-A	0.402	1E-26				Illumina [~ 2200000] (imputed)	N
995	chr16	53803573	53803574	rs1558902	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index	9,377 children and adolescents	3,918 European ancestry children and adolescents	16q12.2	FTO	rs1558902-A	0.402	2E-16	(age 8)	0.012	[0.0081-0.0159] unit increase	Illumina [~ 2200000] (imputed)	N
995	chr16	53803573	53803574	rs1558902	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index	9,377 children and adolescents	3,918 European ancestry children and adolescents	16q12.2	FTO	rs1558902-A	0.402	1E-26	(age 1-17)			Illumina [~ 2200000] (imputed)	N
995	chr16	53803573	53803574	rs1558902	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q12.2	FTO	rs1558902-A	0.418	1E-93	(EA, men)	0.084	[0.076-0.092] kg/m2 increase	Affymetrix, Illumina [2550021]	N
995	chr16	53803573	53803574	rs1558902	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q12.2	FTO	rs1558902-A	0.415	8E-153	(EA)	0.082	[0.076-0.088] kg/m2 increase	Affymetrix, Illumina [2550021]	N
995	chr16	53803573	53803574	rs1558902	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q12.2	FTO	rs1558902-A	0.413	4E-84	(EA, women)	0.079	[0.071-0.087] kg/m2 increase	Affymetrix, Illumina [2550021]	N
995	chr16	53803573	53803574	rs1558902	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q12.2	FTO	rs1558902-A	0.409	1E-156		0.081	[0.075-0.087] kg/m2 increase	Affymetrix, Illumina [2550021]	N
995	chr16	53803573	53803574	rs1558902	25044758	Stergiakouli E	2014-07-21	Obesity (Silver Spring)	Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3.	Height adjusted BMI	5,809 children	2,089 European ancestry children	16q12.2	FTO	rs1558902-A	0.40	9E-10		0.21	[0.13-0.27] unit increase	Illumina [2608006] (imputed)	N
995	chr16	53803573	53803574	rs1558902	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	16q12.2	FTO	rs1558902-A	0.15	7E-27		0.0756	[0.062-0.089] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
995	chr16	53803573	53803574	rs1558902	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16q12.2	FTO	rs1558902-A	0.41	2E-81	(Overweight)	1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
995	chr16	53803573	53803574	rs1558902	21544081	Dorajoo R	2011-04-19	Int J Obes (Lond)	Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations.	Obesity	5,429 Chinese ancestry individuals, 2,431 Malay ancestry individuals, 2,531 Asian Indian ancestry individuals	NA	16q12.2	FTO	rs1558902-T	NR	1E-7		0.09	[0.06-0.12] unit decrease	Illumina [1283957] (imputed)	N
995	chr16	53803573	53803574	rs1558902	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	16q12.2	FTO	rs1558902-A	0.42	5E-120		0.39	[0.35-0.43] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
995	chr16	53803573	53803574	rs1558902	20421936	Scherag A	2010-04-22	PLoS Genet	Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.	Obesity (early onset extreme)	1,138 European ancestry cases, 1,120 European ancestry normal or lean controls	1,181 European ancestry cases, 1,960 European ancestry normal or lean controls, 981 European ancestry cases  and 1,430 European ancestry controls from 715 families	16q12.2	FTO	rs1558902-A	NR	5E-19		1.37	[1.26-1.50]	Affymetrix, Illumina [1596878] (imputed)	N
995	chr16	53803573	53803574	rs1558902	19557197	Heard-Costa NL	2009-06-26	PLoS Genet	NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.	Waist circumference	31,373 European ancestry individuals	38,641 individuals	16q12.2	FTO	rs1558902-?	NR	5E-19				Affymetrix, Illumina [up to 512349]	N
995	chr16	53809246	53809247	rs1121980	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	16q12.2	FTO	rs1121980-A	0.43	3E-8		0.021	[NR] mg/dL increase	NR [NR] (imputed)	N
995	chr16	53809246	53809247	rs1121980	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	16q12.2	FTO	rs1121980-A	0.43	7E-9		0.02	[NR] unit decrease	NR [NR] (imputed)	N
995	chr16	53809246	53809247	rs1121980	18454148	Loos RJ	2008-05-04	Nat Genet	Common variants near MC4R are associated with fat mass, weight and risk of obesity.	Body mass index	16,876 European ancestry adult individuals	60,352 European ancestry adult individuals, 5,988 European ancestry children	16q12.2	FTO	rs1121980-?	NR	4E-8		0.06	[0.04-0.08] unit increase	Affymetrix [344883]	N
995	chr16	53809246	53809247	rs1121980	18159244	Hinney A	2007-12-26	PLoS One	Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.	Obesity (early onset extreme)	487 European ancestry cases, 442 European ancestry controls	2,269 European ancestry individuals from 644 families	16q12.2	FTO	rs1121980-T	0.41	1E-7		1.66	[1.37-2.01]	Affymetrix [440794]	N
995	chr16	53810685	53810686	rs7193144	25888059	Cha S	2015-04-15	BMC Complement Altern Med	The obesity-risk variant of FTO is inversely related with the So-Eum constitutional type: genome-wide association and replication analyses.	Sasang constitutional medicine type (So-Eum)	1,905 Korean ancestry So-Eum type individuals, 1,905 Korean ancestry non-So-Eum type individuals	840 Korean ancestry So-Eum type individuals, 840 Korean ancestry non-So-Eum type individuals	16q12.2	FTO	rs7193144-T	0.858	1E-7		1.37	[1.22-1.54]	Affymetrix [311944]	N
995	chr16	53811787	53811788	rs62033400	24064335	Pei YF	2013-10-08	Hum Mol Genet	Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.	Body mass index	8,463 European ancestry individuals, 7,478 African American individuals, 3,348 Hispanic individuals, 1,624 Han Chinese ancestry individuals	4,979 European ancestry individuals, 2,740 Han Chinese ancestry individuals	16q12.2	FTO	rs62033400-G	NR	2E-14		0.08	[0.060-0.100] kg/m2 increase	Affymetrix, Illumina [4325550] (imputed)	N
995	chr16	53813366	53813367	rs17817449	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	16q12.2	FTO, MIR1972-2	rs17817449-T	0.526	6E-7		1.09	[1.05-1.12]	Illumina [NR]	N
995	chr16	53813366	53813367	rs17817449	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	16q12.2	FTO, MIR1972-2	rs17817449-T	0.6	6E-14		1.08	[1.05-1.1]	Affymetrix, Illumina [~ 2600000] (imputed)	N
995	chr16	53813366	53813367	rs17817449	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	16q12.2	FTO	rs17817449-?	NR	2E-12	(obesity)			Illumina [~ 550000]	N
995	chr16	53813449	53813450	rs8043757	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16q12.2	FTO	rs8043757-T	0.4	5E-110	(Obesity class I)	1.23	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
995	chr16	53816274	53816275	rs8050136	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	16q12.2	FTO	rs8050136-C	0.6	2E-17		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
995	chr16	53816274	53816275	rs8050136	24348519	Namjou B	2013-12-03	Front Genet	EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.	Body mass index	up to 2,860 European ancestry children	NA	16q12.2	FTO	rs8050136-A	0.39	1E-7		5.26	[NR] z score increase	Affymetrix, Illumina [up to 583824] (imputed)	N
995	chr16	53816274	53816275	rs8050136	23209189	Tabassum R	2012-12-03	Diabetes	Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.	Type 2 diabetes	1,101 Indo-European ancestry cases, 1,027 Indo-European ancestry controls	3,607 Indo-European ancestry cases, 2,924 Indo-European ancestry controls, 1,184 Dravidian ancestry cases, 1,061 Dravidian ancestry controls, 11,285 European ancestry cases, 11,285 European ancestry controls	16q12.2	FTO	rs8050136-A	0.34	6E-6	(Indo-European South Asians)	1.16	[1.09-1.24]	Illumina [536420]	N
995	chr16	53816274	53816275	rs8050136	21706003	Kilpelainen TO	2011-06-26	Nat Genet	Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.	Adiposity	29,069 European ancestry individuals, 7,557 Indian Asian ancestry individuals	39,576 European ancestry individuals	16q12.2	FTO	rs8050136-C	0.60	3E-26		0.06	[NR] % decrease	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
995	chr16	53816274	53816275	rs8050136	21037115	Wan ES	2010-10-29	Am J Respir Cell Mol Biol	Genome-wide association analysis of body mass in chronic obstructive pulmonary disease.	Body mass in chronic obstructive pulmonary disease	2,950 European ancestry cases	502 European ancestry cases	16q12.2	FTO	rs8050136-A	0.39	4E-8	(BMI)			Illumina [~ 550000]	N
995	chr16	53816274	53816275	rs8050136	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	16q12.2	FTO	rs8050136-A	0.41	5E-36		7.05	[5.95-8.15] percentage SD increase	Illumina [305846]	N
995	chr16	53816274	53816275	rs8050136	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	16q12.2	FTO	rs8050136-A	0.41	1E-47		8.04	[6.96-9.12] % SD increase	Illumina [305846]	N
995	chr16	53816274	53816275	rs8050136	19056611	Timpson NJ	2008-12-03	Diabetes	Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.	Type 2 diabetes	958 European ancestry obese cases, 955 European ancestry non-obese cases, 2,938 European ancestry controls	Up to 3,757 European ancestry cases, up to 5,346 European ancestry controls	16q12.2	FTO	rs8050136-?	NR	2E-17	(obese)	1.3	[1.23-1.39]	Affymetrix [393453]	N
995	chr16	53816274	53816275	rs8050136	18372903	Zeggini E	2008-03-30	Nat Genet	Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.	Type 2 diabetes	4,549 European ancestry cases, 5,579 European ancestry controls	24,194 European ancestry cases, 55,598 European ancestry controls	16q12.2	FTO	rs8050136-A	NR	7E-6		1.15	[1.09-1.22]	Affymetrix, Illumina [2202892] (imputed)	N
995	chr16	53816274	53816275	rs8050136	17463249	Zeggini E	2007-04-26	Science	Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	3,757 European ancestry cases, 5,346 European ancestry controls	16q12.2	FTO	rs8050136-A	0.40	7E-14		1.23	[1.18-1.32]	Affymetrix [393453]	N
995	chr16	53816274	53816275	rs8050136	17463248	Scott LJ	2007-04-26	Science	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	Type 2 diabetes	1,161 European ancestry cases, 1,174 European ancestry controls	1,215 European ancestry cases, 1,258 European ancestry controls	16q12.2	FTO	rs8050136-A	0.38	1E-12	(DGI+FUSION+WTCCC)	1.17	[1.12-1.22]	Illumina [315635]	N
995	chr16	53819168	53819169	rs9936385	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	16q12.2	FTO	rs9936385-C	0.39	1E-12		1.13	[1.09-1.18]	Affymetrix, Illumina [2500000] (imputed)	N
995	chr16	53819892	53819893	rs11075990	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	16q12.2	FTO	rs11075990-G	0.4	2E-51		1.35	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
995	chr16	53820526	53820527	rs9939609	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	16q12.2	FTO	rs9939609-A	0.40	1E-20	(Obese)	1.25	[1.19-1.30]	NR [NR]	N
995	chr16	53820526	53820527	rs9939609	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	16q12.2	FTO	rs9939609-A	0.40	3E-8		2.1	[1.32-2.88] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
995	chr16	53820526	53820527	rs9939609	19396169	Cho YS	2009-04-26	Nat Genet	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	Biomedical quantitative traits	8,842 Korean ancestry individuals	7,861 Korean ancestry individuals	16q12.2	FTO	rs9939609-A	0.13	2E-7	(BMI)	0.24	[0.14-0.32] kg/m2 increase	Affymetrix [2156535] (imputed)	N
995	chr16	53820526	53820527	rs9939609	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	16q12.2	FTO	rs9939609-A	0.41	4E-51		0.33	[0.27-0.39] kg/m2 increase	Affymetrix, Illumina [2399588] (imputed)	N
995	chr16	53820526	53820527	rs9939609	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 2 diabetes	1,924 European ancestry cases, 2,938 European ancestry controls	(see Zeggini 2007)	16q12.2	FTO	rs9939609-A	0.40	2E-7		1.34	[1.17-1.52]	Affymetrix [469557]	N
995	chr16	53820526	53820527	rs9939609	17434869	Frayling TM	2007-04-12	Science	A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.	Body mass index	5,483 European ancestry type 2 diabetes cases, 5,174 European ancestry controls	19,424 European ancestry adult individuals, 10,172 European ancestry children	16q12.2	FTO	rs9939609-A	0.39	2E-20		0.36	[NR] kg/m2 per copy in adults	Affymetrix [490032]	N
995	chr16	53821614	53821615	rs7202116	22982992	Yang J	2012-09-12	Nature	FTO genotype is associated with phenotypic variability of body mass index.	Body mass index	133,154 European ancestry individuals	59,325 European ancestry individuals	16q12.2	FTO	rs7202116-G	0.402	2E-10	(discovery + validation)	0.036	[0.025-0.047] unit increase	Affymetrix, Illumina, Perlegen [~ 2440000] (imputed)	N
995	chr16	53822650	53822651	rs7185735	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	16q12.2	FTO	rs7185735-G	0.4	1E-79	(Obesity class II)	1.33	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
995	chr16	53825487	53825488	rs9941349	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	16q12.2	FTO	rs9941349-T	0.43	6E-12		1.48	[1.33-1.66]	Illumina [457251]	N
995	chr16	53828065	53828066	rs17817964	23583978	Monda KL	2013-04-14	Nat Genet	A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.	Body mass index	37,956 African American individuals, 1,188 Nigerian ancestry individuals	27,661 African America/Afro-Caribbean individuals, 4,607 Sub-Saharan African ancestry individuals, 123,706 European ancestry inidividuals	16q12.2	FTO	rs17817964-T	0.12	1E-10	(AA and Sub-Saharan)	0.073	[0.051-0.095] unit increase	Affymetrix, Illumina [3283202] (imputed)	N
995	chr16	53830464	53830465	rs9930506	17658951	Scuteri A	2007-07-20	PLoS Genet	Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.	Obesity-related traits	4,741 Sardinian individuals	3,205 African American, Hispanic, and European ancestry individuals	16q12.2	FTO	rs9930506-A	0.54	9E-7	(weight)	0.12	[NR] SD decrease	Affymetrix [362129]	N
995	chr16	53830464	53830465	rs9930506	17658951	Scuteri A	2007-07-20	PLoS Genet	Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.	Obesity-related traits	4,741 Sardinian individuals	3,205 African American, Hispanic, and European ancestry individuals	16q12.2	FTO	rs9930506-A	0.54	9E-7	(BMI)	0.13	[NR] SD decrease	Affymetrix [362129]	N
995	chr16	53830464	53830465	rs9930506	17658951	Scuteri A	2007-07-20	PLoS Genet	Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.	Obesity-related traits	4,741 Sardinian individuals	3,205 African American, Hispanic, and European ancestry individuals	16q12.2	FTO	rs9930506-A	0.54	3E-8	(hip)	0.16	[NR] SD decrease	Affymetrix [362129]	N
995	chr16	53831770	53831771	rs9922619	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	16q12.2	FTO	rs9922619-T	0.44	6E-8	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
995	chr16	53839134	53839135	rs8044769	22763110	Loughlin	2012-07-03	Lancet	Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.	Osteoarthritis	7,410 European ancestry cases, 11,009 European ancestry controls	7,473 European ancestry cases, 42,938 European ancestry controls	16q12.2	FTO	rs8044769-C	0.50	4E-6		1.07	[1.04-1.10]	Illumina [485491]	N
995	chr16	53842907	53842908	rs12149832	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	16q12.2	FTO	rs12149832-A	0.20	5E-22		0.073	[0.057-0.089] unit increase	Illumina [2178018] (imputed)	N
995	chr16	53845486	53845487	rs11642841	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	16q12.2	FTO	rs11642841-A		3E-8		1.13	[1.08-1.18]	Affymetrix, Illumina [2426886] (imputed)	N
995	chr16	53855290	53855291	rs11075995	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	16q12.2	FTO, KIAA1752	rs11075995-?	0.24	4E-8		1.11	[1.07-1.15]	Illumina [NR]	N
997	chr16	54027970	54027971	rs12596210	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Sex hormone-binding globulin levels	1,598 European ancestry female individuals	NA	16q12.2	FTO	rs12596210-C	0.12	9E-6		0.12	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
997	chr16	54090494	54090495	rs7187423	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	16q12.2	FTO	rs7187423-?	NR	6E-7	(AA)	2.02	[1.75-2.30]	Affymetrix, Illumina [NR] (imputed)	N
997	chr16	54114823	54114824	rs16953002	23455637	Iles MM	2013-03-03	Nat Genet	A variant in FTO shows association with melanoma risk not due to BMI.	Melanoma	1,353 European ancestry cases, 3,566 European ancestry controls	12,313 European ancestry cases, Up to 55,667 European ancestry controls	16q12.2	FTO	rs16953002-A	0.17	4E-12		1.16	[1.11-1.20]	Illumina [2600000] (imputed)	N
1000	chr16	54489792	54489793	rs2388639	24486069	Park HW	2014-01-31	J Allergy Clin Immunol	Genetic predictors associated with improvement of asthma symptoms in response to inhaled corticosteroids.	Asthma (corticosteroid response)	124 European ancestry individuals	297 European ancestry individuals	16q12.2	LOC728792	rs2388639-?	0.19	9E-9		0.878	[NR] unit increase	Illumina [440862]	N
1000	chr16	54494423	54494424	rs9921518	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	16q12.2	IRX5, IRX3	rs9921518-?	0.28	9E-6		2.11	[1.52-2.93]	Affymetrix [832357]	N
1004	chr16	55005320	55005321	rs4783860	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	16q12.2	NR	rs4783860-?	NR	7E-6		3.196	[1.86-4.53] unit decrease	Illumina [498648]	N
1004	chr16	55043666	55043667	rs4622507	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	16q12.2	IRX5	rs4622507-C	0.26	2E-6	(Age 17)	0.15	[0.091-0.209] unit increase	Illumina [2293137] (imputed)	N
1005	chr16	55072006	55072007	rs17208368	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	16q12.2	IRX5	rs17208368-A	0.159	3E-15		1.41	[NR]	Illumina [8207076] (imputed)	N
1006	chr16	55245036	55245037	rs17291845	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	16q12.2	AC109462.1	rs17291845-A	0.13	5E-6	(simple RT)	0.19	[0.11-0.27] unit increase	Illumina [~ 610000]	N
1006	chr16	55255190	55255191	rs2001970	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	16q12.2	IRX6	rs2001970-T	0.51	9E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
1007	chr16	55341134	55341135	rs6499755	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	16q12.2	IRX6	rs6499755-C	0.367	1E-8		1.22	[NR]	Illumina [8207076] (imputed)	N
1009	chr16	55604127	55604128	rs6499766	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	16q12.2	CAPNS2, LPCAT2	rs6499766-A	0.478	5E-8	(FT4-Males)	0.099	[0.064-0.134] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1009	chr16	55604127	55604128	rs6499766	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	16q12.2	CAPNS2, LPCAT2	rs6499766-A	0.478	1E-6	(FT4)	0.056	[0.032-0.08] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1011	chr16	55844608	55844609	rs2244613	23467860	Pare G	2013-03-06	Circulation	Genetic determinants of dabigatran plasma levels and their relation to bleeding.	Response to dabigatran etexilate treatment	1,490 European ancestry atrial fibrillation cases at risk of stroke	204 European ancestry atrial fibrillation cases at risk of stroke, 66 Latin American atrial fibrillation cases at risk of stroke, 1 Arab ancestry atrial fibrillation cases at risk of stroke, 5 Black African atrial fibrillation cases at risk of stroke, 25 East Asian ancestry atrial fibrillation cases at risk of stroke, 1 Colored African atrial fibrillation cases at risk of stroke, 9 South Asian ancestry atrial fibrillation cases at risk of stroke, 15 Asian ancestry atrial fibrillation cases at risk of stroke, 134 atrial fibrillation cases at risk of stroke	16q12.2	CES1	rs2244613-?	0.82	5E-7	(Trough concentrations)	1.16	[1.10-1.22]	Illumina [551203]	N
1011	chr16	55861793	55861794	rs8192935	23467860	Pare G	2013-03-06	Circulation	Genetic determinants of dabigatran plasma levels and their relation to bleeding.	Response to dabigatran etexilate treatment	1,490 European ancestry atrial fibrillation cases at risk of stroke	204 European ancestry atrial fibrillation cases at risk of stroke, 66 Latin American atrial fibrillation cases at risk of stroke, 1 Arab ancestry atrial fibrillation cases at risk of stroke, 5 Black African atrial fibrillation cases at risk of stroke, 25 East Asian ancestry atrial fibrillation cases at risk of stroke, 1 Colored African atrial fibrillation cases at risk of stroke, 9 South Asian ancestry atrial fibrillation cases at risk of stroke, 15 Asian ancestry atrial fibrillation cases at risk of stroke, 134 atrial fibrillation cases at risk of stroke	16q12.2	CES1	rs8192935-?	0.67	1E-6	(Peak concentrations)	1.12	[1.08-1.18]	Illumina [551203]	N
1011	chr16	55879619	55879620	rs7184362	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	16q12.2	NR	rs7184362-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1017	chr16	56725172	56725173	rs8064100	22780124	Lind PA	2012-07-11	Addict Biol	Genome-wide association study of a quantitative disordered gambling trait.	Gambling	1,312 European ancestry twins from 894 families	NA	16q13	MT1X, MT11P, MT1H, MT1G, MT1B, NUP93, MT1F	rs8064100-A	0.582	3E-6		0.148	[0.087-0.209] unit decrease	Illumina [2373249] (imputed)	N
1019	chr16	56969147	56969148	rs2217332	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	16q13	HERPUD1	rs2217332-?	0.19	3E-6	(HDL)			Illumina [308011]	N
1019	chr16	56985138	56985139	rs9989419	24023261	Keller M	2013-09-10	J Lipid Res	THOC5: a novel gene involved in HDL-cholesterol metabolism.	Lipid traits	839 European ancestry individuals	up to 5,248 European ancestry individuals	16q13	CETP	rs9989419-A	0.42	5E-11	(HDL-C)	6.57	unit decrease	Affymetrix [390619]	N
1019	chr16	56985138	56985139	rs9989419	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	16q13	CETP	rs9989419-G	0.60	1E-32		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1019	chr16	56985138	56985139	rs9989419	20031538	Heid IM	2008-10-01	Circ Cardiovasc Genet	Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.	HDL cholesterol	Up to 4,274 European ancestry individuals	Up to 15,873 European ancestry individuals	16q13	CETP	rs9989419-A	0.38	9E-27		2.66	[NR] mg/dl decrease	Affymetrix [up to 2557253] (imputed)	N
1019	chr16	56985138	56985139	rs9989419	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	16q13	CETP	rs9989419-G	0.65	3E-31		1.72	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1019	chr16	56988043	56988044	rs173539	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	16q13	CETP	rs173539-?	0.28	3E-70				Illumina [~ 2000000] (imputed)	N
1019	chr16	56988043	56988044	rs173539	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	16q13	CETP	rs173539-T	0.32	3E-65	(HDL)	0.255	[0.23-0.28] mmol/l increase	Illumina [NR] (imputed)	N
1019	chr16	56988043	56988044	rs173539	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	16q13	CETP	rs173539-C	NR	1E-16	(HDLC-WC)	0.29	[0.23-0.35] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1019	chr16	56988043	56988044	rs173539	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome	22,161 European ancestry individuals	NA	16q13	CETP	rs173539-C	NR	9E-9		0.16	[0.10-0.22] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1019	chr16	56988043	56988044	rs173539	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	HDL Cholesterol - Triglycerides (HDLC-TG)	22,161 European ancestry individuals	NA	16q13	CETP	rs173539-C	NR	5E-16		0.26	[0.20-0.32] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1019	chr16	56988043	56988044	rs173539	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	16q13	CETP	rs173539-T	0.32	4E-75		0.25	[0.21-0.29] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1019	chr16	56989589	56989590	rs247616	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16q13	CETP	rs247616-T	0.32	1E-11	(X-11550)	0.01	[0.008-0.012] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1019	chr16	56989589	56989590	rs247616	22003152	Grallert H	2011-10-14	Eur Heart J	Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.	Lipoprotein-associated phospholipase A2 activity and mass	12,126 European ancestry individuals, 1,538 individuals	NA	16q13	CETP	rs247616-T	0.32	3E-8	(Mass concentrations)	0.023	[0.015-0.031] unit increase	Affymetrix, Illumina [2661766] (imputed)	N
1019	chr16	56989589	56989590	rs247616	20838585	Smith EN	2010-09-09	PLoS Genet	Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.	Cardiovascular disease risk factors	525 European ancestry individuals	2,265 European ancestry individuals	16q13	HERPUD1, CETP	rs247616-T	0.33	1E-23	(HDL-cholesterol)	2.99	[2.42-3.56] % SD increase	Illumina [545821]	N
1019	chr16	56990715	56990716	rs247617	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	16q13	CETP	rs247617-C	0.69	2E-24		0.069	[0.055-0.083] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1019	chr16	56990715	56990716	rs247617	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	HDL cholesterol	7,917 African American individuals, 3,506 Hispanic individuals	7,138 African American individuals	16q13	CETP	rs247617-C	0.298	3E-16	(Hispanic)	0.0509	[NR] unit increase	Affymetrix [NR]	N
1019	chr16	56990715	56990716	rs247617	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	HDL cholesterol	7,917 African American individuals, 3,506 Hispanic individuals	7,138 African American individuals	16q13	CETP	rs247617-A	0.262	1E-44	(AA)	0.0619	[NR] unit increase	Affymetrix [NR]	N
1019	chr16	56990715	56990716	rs247617	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	16q13	CETP	rs247617-C	0.72	9E-60	(HDL)	0.25	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	25884002	Moore CB	2015-01-09	Open Forum Infect Dis	Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.	HDL Cholesterol in HIV-infection	2,547 individuals	NA	16q13	HERPU, HERPUD1, CETP, CET	rs3764261-?	NR	4E-7		0.03580406	[NR] unit increase	Illumina [5954294] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	16q13	CETP	rs3764261-?	NR	2E-12		1.41		Illumina [4471719] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	16q13	CETP	rs3764261-T	0.16	2E-25	(HDL)	0.062	[0.046-0.078] mmol/L increase	Affymetrix, Illumina [up to 2249917] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	16q13	CETP	rs3764261-A	0.32	2E-25		0.04	[NR] mg/dL decrease	NR [NR] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	16q13	CETP	rs3764261-A	0.32	2E-34		0.053	[NR] unit decrease	NR [NR] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	16q13	CETP	rs3764261-A	0.32	1E-769		0.241	[NR] unit increase	NR [NR] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	16q13	CETP	rs3764261-A	0.32	4E-31		0.05	[NR] unit increase	NR [NR] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity and mass	6,851 European ancestry individuals	13,664 European ancestry individuals	16q13	CETP	rs3764261-T	0.34	7E-21	(mass)	0.0224	[0.014-0.030] ng/ml increase	Illumina [796174]	N
1019	chr16	56993323	56993324	rs3764261	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	16q13	CETP	rs3764261-?	NR	1E-36	(HDL-C)	0.22	[0.18-0.26] unit increase	Illumina [~ 7700000] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	16q13	CETP	rs3764261-A	0.33	7E-9		1.15	[NR]	Affymetrix [6036699] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	16q13	CETP	rs3764261-G	NR	3E-13	(BP-HDLC)	0.29	[0.21-0.37] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	16q13	CETP	rs3764261-A	0.305	9E-18		0.203	[0.16-0.25] unit increase	Affymetrix [~ 2740000] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	16q13	CETP	rs3764261-A	0.36	1E-48	(HDL)	0.07	[0.06-0.08] mmol/l increase	Illumina [308011]	N
1019	chr16	56993323	56993324	rs3764261	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	16q13	CETP	rs3764261-A	0.45	1E-12		2.88	[2.14-3.62] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	16q13	CETP	rs3764261-T	0.32	9E-13		1.45	[1.06-1.84] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	16q13	CETP	rs3764261-A	0.32	7E-380		3.39	[3.21-3.57] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	16q13	CETP	rs3764261-A	0.32	7E-14		1.67	[1.22-2.12] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1019	chr16	56993323	56993324	rs3764261	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	16q13	CETP	rs3764261-A	0.21	5E-29	(HDL)	0.254	[0.21-0.3] unit increase	Illumina [561583]	N
1019	chr16	56993323	56993324	rs3764261	19359809	Hiura Y	2009-04-10	Circ J	Identification of genetic markers associated with high-density lipoprotein-cholesterol by genome-wide screening in a Japanese population: the Suita study.	HDL cholesterol	900 Japanese ancestry individuals	1,810 Japanese ancestry individuals	16q13	CETP	rs3764261-A	0.20	3E-12		6.2	mg/dl increase	Illumina [368274]	N
1019	chr16	56993323	56993324	rs3764261	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	HDL cholesterol	4,763 Northern Finnish founder individuals	NA	16q13	CETP	rs3764261-A	0.28	7E-29		0.09	[0.08-0.11] mmol/l increase	Illumina [329091]	N
1019	chr16	56993323	56993324	rs3764261	18454146	Chambers JC	2008-05-04	Nat Genet	Common genetic variation near MC4R is associated with waist circumference and insulin resistance.	Waist circumference and related phenotypes	2,684 Indian Asian ancestry male individuals	7,394 Indian Asian ancestry individuals, 4,561 European ancestry individuals	16q13	CETP	rs3764261-?	NR	1E-27	(HDL cholesterol)			Illumina [308067]	N
1019	chr16	56993323	56993324	rs3764261	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	16q13	CETP	rs3764261-A	0.31	2E-57		3.47	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1019	chr16	56993885	56993886	rs821840	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	16q13	CETP	rs821840-A	0.7	2E-11		0.045	[0.031-0.059] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1019	chr16	56994527	56994528	rs17231506	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	16q13	CETP	rs17231506-T	0.31	7E-316		0.243	[0.23-0.25] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1019	chr16	56995235	56995236	rs1800775	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16q13	CETP	rs1800775-A	0.5	1E-11	(X-12038)	0.013	[0.0091-0.0169] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1019	chr16	56995235	56995236	rs1800775	24023260	Wu Y	2013-09-10	J Lipid Res	Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.	Lipid traits	1,782 Filipino ancestry mothers	1,719 Filipino ancestry offsprings	16q13	CETP	rs1800775-A	0.4	3E-9	(HDL-C)	0.04	[0.020-0.060] unit increase	Affymetrix [~ 3700000] (imputed)	N
1019	chr16	56995235	56995236	rs1800775	20031564	Ridker PM	2009-02-01	Circ Cardiovasc Genet	Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study.	HDL cholesterol	18,245 European ancestry females	NA	16q13	SLC12A3, HERPUD1, CETP, NUP93	rs1800775-A	0.49	4E-93		3.09	mg/dL increase	Illumina [~ 318237]	N
1019	chr16	56995235	56995236	rs1800775	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1800775-?	NR	8E-78	(HDL.mean.size, whole)	0.086	[NR] unit increase	Illumina [335603]	N
1019	chr16	56995235	56995236	rs1800775	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1800775-?	NR	5E-87	(HDL.large, whole)	0.729	[NR] unit increase	Illumina [335603]	N
1019	chr16	56995235	56995236	rs1800775	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1800775-?	NR	3E-93	(HDL-C.assay, whole)	3.096	[NR] unit increase	Illumina [335603]	N
1019	chr16	56995235	56995236	rs1800775	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1800775-?	NR	2E-59	(HDL.large, fasting)	0.703	[NR] unit increase	Illumina [335603]	N
1019	chr16	56995235	56995236	rs1800775	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1800775-?	NR	1E-81	(HDL-C.by.NMR, whole)	2.658	[NR] unit increase	Illumina [335603]	N
1019	chr16	56995235	56995236	rs1800775	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1800775-?	NR	1E-53	(HDL.mean.size, fasting)	0.084	[NR] unit increase	Illumina [335603]	N
1019	chr16	56995235	56995236	rs1800775	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	HDL cholesterol	2,758 individuals	18,544 individuals	16q13	CETP	rs1800775-C	0.51	1E-73		0.18	[0.16-0.20] percentage SD decrease	Affymetrix [389878]	N
1019	chr16	56995235	56995236	rs1800775	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Triglycerides	Up to 5,217 European ancestry individuals	NA	16q13	CETP	rs1800775-C	0.47	3E-13	(HDL)	2.1	% variance	Affymetrix [386731]	N
1019	chr16	56995235	56995236	rs1800775	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Triglycerides	Up to 5,217 European ancestry individuals	NA	16q13	CETP	rs1800775-C	0.44	3E-6	(apoA-1)	1.6	% variance	Affymetrix [386731]	N
1019	chr16	56997232	56997233	rs1864163	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	16q13	CETP	rs1864163-G	0.76	7E-16		1.22	[1.17-1.27]	Affymetrix, Illumina [2442884] (imputed)	N
1019	chr16	56997232	56997233	rs1864163	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1864163-?	NR	7E-22	(LDL.large, fasting)	30.38	[NR] unit decrease	Illumina [335603]	N
1019	chr16	56997232	56997233	rs1864163	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1864163-?	NR	3E-25	(LDL.large, whole)	27.87	[NR] unit decrease	Illumina [335603]	N
1019	chr16	56997232	56997233	rs1864163	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	16q13	CETP	rs1864163-G	0.8	7E-39		4.12	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1019	chr16	57000937	57000938	rs118146573	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Cholesterol, total	3,701 Mexican ancestry individuals	5,114 Mexican ancestry individuals, 903 Mexican ancestry individuals from 73 dyslipidemic families	16q13	CETP	rs118146573-A	NR	4E-10		0.2	[NR] unit decrease	Illumina [1661241] (imputed)	N
1019	chr16	57002731	57002732	rs9939224	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Metabolic syndrome (bivariate traits)	22,161 European ancestry individuals	NA	16q13	CETP	rs9939224-G	0.46	7E-12	(HDLC-GLUC)	0.31	[0.21-0.41] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1019	chr16	57005478	57005479	rs1532624	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	HDL cholesterol	1,122 Mexican ancestry hypertriglyceridemia cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry hypertriglyceridemia cases, 1,054 Mexican ancestry controls	16q13	NLRC5, SLC12A3, HERPUD1, CETP	rs1532624-A	0.43	1E-24		0.23	[0.19-0.27] unit increase	Illumina [1361436] (imputed)	N
1019	chr16	57005478	57005479	rs1532624	20066028	Igl W	2010-01-08	PLoS Genet	Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.	Cholesterol	656 European ancestry individuals	Up to 3,282 European ancestry individuals	16q13	CETP	rs1532624-?	NR	3E-20		9.99	[NR] mg/dl increase between hmz	Illumina [~ 311388]	N
1019	chr16	57005478	57005479	rs1532624	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1532624-?	NR	3E-55	(HDL-C.by.NMR, fasting)	2.608	[NR] unit increase	Illumina [335603]	N
1019	chr16	57005478	57005479	rs1532624	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1532624-?	NR	1E-66	(HDL-C.assay, fasting)	3.094	[NR] unit increase	Illumina [335603]	N
1019	chr16	57005478	57005479	rs1532624	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs1532624-?	NR	1E-39	(APOA1.assay, fasting)	3.92	[NR] unit increase	Illumina [335603]	N
1019	chr16	57005478	57005479	rs1532624	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	16q13	CETP	rs1532624-C	0.57	9E-94		0.21	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1019	chr16	57006589	57006590	rs7499892	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs7499892-?	NR	2E-14	(HDL.total, fasting)	0.742	[NR] unit decrease	Illumina [335603]	N
1019	chr16	57006589	57006590	rs7499892	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	16q13	CETP	rs7499892-?	NR	1E-20	(HDL.total, whole)	0.761	[NR] unit decrease	Illumina [335603]	N
1019	chr16	57006589	57006590	rs7499892	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	16q13	CETP	rs7499892-A	0.16	9E-6	(HDL cholesterol)	0.24	[0.14-0.34] mmol/L decrease	Illumina [316730]	N
1019	chr16	57007511	57007512	rs12691052	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	16q13	CETP, HERPUD1, LOC100130044	rs12691052-A	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
1019	chr16	57012378	57012379	rs12708980	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	HDL cholesterol	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	16q13	CETP	rs12708980-C	0.10	2E-28		0.0396	[0.033-0.047] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
1019	chr16	57015090	57015091	rs5880	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	HDL cholesterol	3,701 Mexican ancestry individuals	5,114 Mexican ancestry individuals, 903 Mexican ancestry individuals from 73 dyslipidemic families	16q13	HERPUD1, CETP	rs5880-C	NR	2E-16		0.29	[NR] unit decrease	Illumina [1661241] (imputed)	N
1020	chr16	57017291	57017292	rs2303790	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	16q13	CETP	rs2303790-?	NR	6E-22		1.7	[NR]	Illumina [4471719] (imputed)	N
1020	chr16	57024316	57024317	rs17290922	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	16q13	NLRC5	rs17290922-?	NR	8E-6	(Mood symptoms)	0.1338	[NR] unit decrease	Affymetrix [696491]	N
1020	chr16	57058581	57058582	rs821470	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	16q13	NLRC5	rs821470-A	NR	3E-6		1.25	[NR]	Affymetrix [745006]	N
1022	chr16	57303193	57303194	rs11640439	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep duration	2,278 European ancestry individuals	NA	16q13	PLLP	rs11640439-A	0.09	3E-6		0.24	[0.14-0.34] unit increase	Illumina [2380486] (imputed)	N
1024	chr16	57563670	57563671	rs8052123	23137000	Lin HJ	2012-11-09	Ophthalmic Genet	Novel susceptibility genes associated with diabetic cataract in a Taiwanese population.	Cataracts in type 2 diabetes	109 Han Chinese ancestry cases, 649 Han Chinese ancestry controls	NA	16q21	CCDC102A	rs8052123-C	NR	5E-6				Illumina [517401]	N
1028	chr16	58075281	58075282	rs12447804	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	16q21	MMP15	rs12447804-?	NR	4E-8	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
1028	chr16	58075281	58075282	rs12447804	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	16q21	MMP15	rs12447804-T	0.21	4E-8	(FEV1/FVC)	0.038	[0.024-0.052] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1029	chr16	58209273	58209274	rs74019828	24795349	Saxena R	2014-05-03	Circ Cardiovasc Genet	Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort.	Telomere length	842 Punjabi Sikh ancestry type 2 diabetes cases, 774 Punjabi Sikh ancestry controls	1,108 Punjabi Sikh ancestry type 2 diabetes cases, 1,289 Punjabi Sikh ancestry controls, 2,952 European ancestry myocardial infarction cases and healthy controls, 10,033 European ancestry individuals	16q21	CSNK2A2	rs74019828-A	0.16	5E-8	(Punjabi Sikhs)	0.38	[0.26-0.50] unit decrease	Illumina [5904251] (imputed)	N
1030	chr16	58372983	58372984	rs7199896	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	16q21	PRSS54	rs7199896-T	0.06	5E-6		1.5873016	[1.41-1.76]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
1031	chr16	58459925	58459926	rs4784934	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	16q21	CNOT1	rs4784934-A	0.254	6E-9		0.67	[0.43-0.91] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1031	chr16	58566303	58566304	rs37060	22726844	Kim JW	2012-06-20	Am J Hum Genet	A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval.	QT interval	6,805 Korean ancestry individuals	7,373 East Asian ancestry individuals	16q21	NDRG4, CNOT1	rs37060-?	NR	1E-7		1.52	[0.957-2.084] ms increase	Affymetrix [352228]	N
1031	chr16	58567237	58567238	rs37062	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	16q21	NDRG4	rs37062-A	0.72	1E-6	(QT interval)	6.09	[3.62-8.57] % s.d. increase	Illumina [306060]	N
1031	chr16	58567237	58567238	rs37062	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	16q21	GINS3, NDRG4, SLC38A7, GOT2, CNOT1	rs37062-G	0.24	3E-25		1.75	[1.41-2.09] msec decrease	Affymetrix, Illumina [up to 2543686] (imputed)	N
1031	chr16	58574252	58574253	rs246196	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	16q21	CNOT1	rs246196-C	0.259	2E-57		1.73	[1.51-1.95] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1032	chr16	58622177	58622178	rs7188697	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	16q21	NDRG4	rs7188697-A	0.74	7E-25		1.66	[1.20-2.12] ms increase	Affymetrix, Illumina [2557000] (imputed)	N
1032	chr16	58671814	58671815	rs12446487	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16q21	NR	rs12446487-C	NR	1E-8		1.0869565	[NR]	Illumina [7158791] (imputed)	N
1032	chr16	58681392	58681393	rs12325245	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	16q21	CNOT1, SLC38A7	rs12325245-T	0.141	2E-8		1.0869565	[1.06-1.12]	Affymetrix, Illumina [9005918] (imputed)	N
1033	chr16	58733161	58733162	rs61041336	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	16q21	intergenic	rs61041336-G	0.8469	3E-6	(Case/control)	0.4512	[0.26-0.64] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1033	chr16	58759331	58759332	rs12600277	21223598	Wineinger NE	2011-01-11	BMC Med Genomics	Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.	Aortic root size	1,086 African American individuals	NA	16q21	GOT2	rs12600277-?	0.16	3E-6		0.1399	[0.082-0.198] cm increase	Affymetrix [NR]	N
1033	chr16	58776313	58776314	rs4784054	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16q21	GOT2	rs4784054-A	0.11	2E-21	(phenyllactate (PLA))	0.035	[0.027-0.043] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1033	chr16	58829789	58829790	rs12709013	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	16q21	GOT2	rs12709013-T	0.44	3E-24	(phenyllactate (PLA)/phenylalanine)	0.027	[0.021-0.033] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1034	chr16	58976590	58976591	rs8044477	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	16q21	intergenic	rs8044477-?	NR	2E-7	(Serous)	1.1	[1.06-1.15]	Illumina [up to 10962898] (imputed)	N
1034	chr16	58976590	58976591	rs8044477	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	16q21	intergenic	rs8044477-?	NR	1E-8		1.1		Illumina [up to 10962898] (imputed)	N
1041	chr16	59787569	59787570	rs1392502	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16q21	NR	rs1392502-?	NR	1E-8	(AA)	0.8419	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1041	chr16	59890697	59890698	rs8056650	20197096	Stein JL	2010-03-01	Neuroimage	Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.	Brain structure (hippocampal volume)	162 European ancestry Alzheimer's disease cases, 343 European ancestry amnestic mild cognitive impairment cases, 193 European ancestry healthy elderly controls	NA	16q21	intergenic	rs8056650-G	0.07	1E-6		302.5	[NR] unit decrease	Illumina [546314]	N
1042	chr16	59940187	59940188	rs16961543	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q21	LOC644649	rs16961543-C	0.237	6E-6	(Urinary free dopamine: creatinine)	0.03	[NR] unit increase	Illumina [899892]	N
1045	chr16	60314655	60314656	rs9932186	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	16q21	CDH8	rs9932186-?	NR	3E-8	(proportions)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
1048	chr16	60733602	60733603	rs17822114	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		16q21	intergenic	rs17822114-?	0.034	3E-18			[NR]	Affymetrix, Illumina [152234]	N
1051	chr16	61123146	61123147	rs2639889	17903295	Lunetta KL	2007-09-19	BMC Med Genet	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Morbidity-free survival	558 individuals	NA	16q21	intergenic	rs2639889-?	NR	9E-7				Affymetrix [70897]	N
1056	chr16	61778094	61778095	rs8048207	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	16q21	CDH8	rs8048207-T	0.121	8E-6	(Additive model)			Affymetrix [271817]	N
1058	chr16	62100210	62100211	rs8050940	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		16q21	intergenic	rs8050940-?	0.02	1E-26			[NR]	Affymetrix, Illumina [152234]	N
1060	chr16	62377152	62377153	rs11645366	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	16q21	CDH8	rs11645366-C	0.77	7E-6				Illumina [~ 2609000] (imputed)	N
1064	chr16	62798851	62798852	rs2962462	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	16q21	intergenic	rs2962462-?	0.56	2E-6		0.29	[0.17-0.41] unit increase	Illumina [2095209]	N
1070	chr16	63700507	63700508	rs2018916	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16q21	NR	rs2018916-C	NR	7E-9		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1072	chr16	63955446	63955447	rs1381102	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	16q21	intergenic	rs1381102-A	0.40	6E-6				Perlegen [378332]	N
1078	chr16	64635402	64635403	rs16967753	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	16q21	LOC729217	rs16967753-C		1E-6		0.15	[0.09-0.21] unit increase	Affymetrix [~ 2500000] (imputed)	N
1080	chr16	64904721	64904722	rs1895518	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	16q21	CDH11	rs1895518-T	NR	4E-6		4.623	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1085	chr16	65661515	65661516	rs151011520	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16q21	NR	rs151011520-?	NR	1E-6	(Native Hawaiian)	1.5544	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1087	chr16	65895363	65895364	rs1126179	23918034	Kuhnisch J	2013-08-07	Clin Oral Investig	Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).	Molar-incisor hypomineralization	88 European ancestry cases, 580 European ancestry controls	NA	16q21	CDH5	rs1126179-G	0.595	3E-6		2.13	[1.55-2.92]	Affymetrix [2013491] (imputed)	N
1089	chr16	66158735	66158736	rs8050896	23241943	Clark SL	2012-12-12	Pharmacogenet Genomics	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	Response to antipsychotic treatment	Up to 421 European ancestry Schizophrenia cases, up to 214 African American individuals, up to 103 individuals	NA	16q21	intergenic	rs8050896-T	0.161	4E-8	(Effect of Risperidone on CGI-S)			Affymetrix [492900]	N
1092	chr16	66583704	66583705	rs3743714	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16q21	NR	rs3743714-?	NR	7E-6	(EA)	0.4757	[0.27-0.68] unit decrease	Illumina [up to 11892802] (imputed)	N
1093	chr16	66638244	66638245	rs35320143	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	16q22.1	NR	rs35320143-?		9E-6		0.09	unit decrease	Illumina [1211988] (imputed)	N
1097	chr16	67225500	67225501	rs3729639	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	16q22.1	LCAT	rs3729639-T	0.44	2E-11		0.09	[0.064-0.116] unit increase	Affymetrix [~ 2740000] (imputed)	N
1101	chr16	67693796	67693797	rs7204371	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q22.1	PARD6A	rs7204371-A	0.048	4E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1101	chr16	67708896	67708897	rs12449157	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	16q22.1	GFOD2, LCAT	rs12449157-G	0.17	2E-7		0.02	[0.01-0.03] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
1102	chr16	67811589	67811590	rs73591976	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	16q22.1	RANBP10, LCAT	rs73591976-A	0.12	9E-26		0.096	[0.078-0.114] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1103	chr16	67902069	67902070	rs2271293	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	16q22.1	CTCF, PRMT8	rs2271293-G	0.87	8E-16		0.13	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
1103	chr16	67902069	67902070	rs2271293	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	16q22.1	LCAT	rs2271293-A	0.11	9E-13		0.07	[0.01-0.13] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
1103	chr16	67911516	67911517	rs8060686	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	16q22.1	EDC4	rs8060686-T	0.81	2E-10	(HDL)	0.11	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
1103	chr16	67911516	67911517	rs8060686	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	16q22.1	EDC4	rs8060686-T	0.38	8E-6		0.0715	[0.04-0.103] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1103	chr16	67928041	67928042	rs16942887	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	16q22.1	LCAT	rs16942887-A	0.14	8E-54		0.083	[NR] unit increase	NR [NR] (imputed)	N
1103	chr16	67928041	67928042	rs16942887	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	16q22.1	LCAT	rs16942887-A	0.12	8E-33		1.27	[1.05-1.49] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1103	chr16	67971379	67971380	rs11574514	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	16q22.1	PSMB10	rs11574514-A	0.045	2E-7		1.44	[1.35-1.52]	Affymetrix, Illumina [1060934] (imputed)	N
1103	chr16	68013470	68013471	rs255049	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	HDL cholesterol	4,763 Northern Finnish founder individuals	NA	16q22.1	LCAT	rs255049-G	0.22	3E-8		0.05	[0.03-0.07] mmol/l increase	Illumina [329091]	N
1103	chr16	68024994	68024995	rs255052	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	16q22.1	LCAT	rs255052-A	0.17	1E-7		0.74	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
1105	chr16	68189339	68189340	rs8044995	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16q22.1	NR	rs8044995-A	NR	4E-8		1.08	[NR]	Illumina [7158791] (imputed)	N
1105	chr16	68189339	68189340	rs8044995	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	16q22.1	ACD, C16orf86, CENPT, CTRL, DDX28, DPEP2, DPEP3, DUS2L, EDC4, ENKD1, ESRP2, GFOD2, LCAT, NFATC3, NRN1L, NUTF2, PARD6A, PLA2G15, PSKH1, PSMB10, RANBP10, SLC12A4, SLC7A6, SLC7A6OS, THAP11, TSNAXIP1	rs8044995-A	0.162	2E-8		1.081	[1.052-1.111]	Affymetrix, Illumina [9005918] (imputed)	N
1106	chr16	68304391	68304392	rs8056893	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	16q22.1	SLC7A6	rs8056893-A	0.73	3E-39	(lysine/glutaroyl carnitine)	0.044	[0.038-0.05] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1106	chr16	68304391	68304392	rs8056893	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16q22.1	SLC7A6	rs8056893-A	0.73	2E-30	(glutaroyl carnitine)	0.03	[0.024-0.036] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1106	chr16	68326199	68326200	rs6499165	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	16q22.1	SLC7A6	rs6499165-A	0.266	1E-18	(glutaroyl carnitine/lysine + 3 other traits)	0.11	[NR] unit increase	Affymetrix, Illumina [534665]	N
1106	chr16	68331889	68331890	rs2863979	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16q22.1	SLC7A6	rs2863979-A	0.72	1E-17	(lysine)	0.014	[0.01-0.018] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1106	chr16	68381977	68381978	rs2307022	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q22.1	PRMT7	rs2307022-A	0.338	1E-6	(EA)	0.016	[0.0095-0.0225] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1106	chr16	68381977	68381978	rs2307022	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q22.1	PRMT7	rs2307022-A	0.334	4E-7		0.016	[0.0098-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1106	chr16	68383046	68383047	rs7197653	20700443	Meyer TE	2010-08-05	PLoS Genet	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	Magnesium levels	15,366 European ancestry individuals	8,463 European ancestry individuals	16q22.1	PRMT7	rs7197653-C	0.15	2E-6		0.01	[0.003-0.007] mmol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1108	chr16	68586503	68586504	rs12149608	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	16q22.1	NR	rs12149608-?	NR	2E-8	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1108	chr16	68591229	68591230	rs1728785	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	16q22.1	NR	rs1728785-C	0.78	5E-6	(EA)	1.0728852		Affymetrix, Illumina [~ 9000000] (imputed)	N
1108	chr16	68591229	68591230	rs1728785	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	16q22.1	ZFP90	rs1728785-C	0.767	4E-8		1.075	[1.031-1.121]	Affymetrix, Illumina [1230000] (imputed)	N
1108	chr16	68591229	68591230	rs1728785	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	16q22.1	CDH1	rs1728785-G	0.76	3E-8		1.17	[1.07-1.27]	Affymetrix [NR]	N
1108	chr16	68600350	68600351	rs17689437	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	16q22.1	ZFP90	rs17689437-?	NR	6E-6				Illumina [990115]	N
1108	chr16	68600350	68600351	rs17689437	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	16q22.1	ZFP90	rs17689437-?	0.13	1E-6	(risperidone)			Affymetrix [492900]	N
1108	chr16	68674787	68674788	rs6499188	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	16q22.1	ZFP90	rs6499188-A	0.75	4E-8		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1109	chr16	68757768	68757769	rs192253604	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	16q22.1	intergenic	rs192253604-A	0.096	8E-7		0.175	[0.11-0.24] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1109	chr16	68796745	68796746	rs35158985	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	16q22.1	CDH1	rs35158985-G	0.3	3E-7		0.095	[NR] unit increase	Affymetrix, Illumina [at least 1569314] (imputed)	N
1110	chr16	68820945	68820946	rs9929218	19011631	Houlston RS	2008-11-16	Nat Genet	Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.	Colorectal cancer	1,902 European ancestry cases, 1,929 European ancestry controls	18,284 European ancestry cases, 18,926 European ancestry controls	16q22.1	CDH1	rs9929218-G	0.29	1E-8		1.1	[1.06-1.12]	Illumina [up to 548586]	N
1112	chr16	69135048	69135049	rs8047014	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	16q22.1	HAS3	rs8047014-?	NR	4E-6	(binary)			Perlegen [429981]	N
1115	chr16	69497202	69497203	rs12149862	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	16q22.1	CYB5B	rs12149862-?	NR	4E-9	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1115	chr16	69542375	69542376	rs744972	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	16q22.1	CYB5B, NFAT5	rs744972-C	0.256	9E-6	(Protein (control))			Affymetrix [590000]	N
1115	chr16	69556714	69556715	rs889398	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q22.1	MIR1538	rs889398-C	0.579	2E-6		0.014	[0.0084-0.0198] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1115	chr16	69556714	69556715	rs889398	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	16q22.1	MIR1538	rs889398-C	0.573	5E-7	(EA)	0.016	[0.0095-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1115	chr16	69563889	69563890	rs7193778	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	16q22.1	NFAT5	rs7193778-T	0.86	8E-10		0.046	[0.030-0.062] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1115	chr16	69588571	69588572	rs1364063	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	16q22.1	COG4, NFAT5	rs1364063-C	0.43	6E-21		0.05	[0.04-0.06] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1115	chr16	69588571	69588572	rs1364063	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	16q22.1	NFAT5	rs1364063-C	0.43	2E-8		2.1	[1.32-2.88] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1117	chr16	69830327	69830328	rs6499255	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	16q22.1	WWP2	rs6499255-A	NR	1E-6		0.11	[0.07-0.15] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1119	chr16	70045747	70045748	rs929843	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	16q22.1	COG4, WWP2	rs929843-A	0.23	1E-11		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
1122	chr16	70505358	70505359	rs11861805	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q22.1	FUK	rs11861805-T	0.049	8E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1122	chr16	70505358	70505359	rs11861805	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q22.1	FUK	rs11861805-T	0.049	6E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1126	chr16	70913983	70913984	rs12149070	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	16q22.2	HYDIN	rs12149070-T	0.06	8E-6	(IL8)			Illumina [588352]	N
1127	chr16	71047483	71047484	rs195656	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	16q22.2	HYDIN	rs195656-A		7E-6				Illumina [944512] (imputed)	N
1129	chr16	71396660	71396661	rs62055045	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16q22.2	NR	rs62055045-G	NR	1E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
1131	chr16	71634810	71634811	rs4788815	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	16q22.2	TAT	rs4788815-?	0.35	4E-13				Illumina [~ 2000000] (imputed)	N
1131	chr16	71634810	71634811	rs4788815	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	16q22.2	TAT	rs4788815-?	NR	2E-17	(Phe, Tyr)	0.15	[0.11-0.19] unit increase	Illumina [~ 7700000] (imputed)	N
1131	chr16	71653636	71653637	rs2334880	22895189	Timmann C	2012-08-15	Nature	Genome-wide association study indicates two novel resistance loci for severe malaria.	Malaria	1,325 African ancestry, 828 African ancestry controls	2,229 African ancestry cases, 3,526 African ancestry controls	16q22.2	MARVELD3	rs2334880-C	0.45	2E-6		1.19	[NR]	Affymetrix [4205739] (imputed)	N
1131	chr16	71691328	71691329	rs12051443	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	16q22.2	PHLPP2	rs12051443-A	0.34	3E-8		1.06	[1.04-1.08]	Affymetrix, Illumina [up to 16852405] (imputed)	N
1134	chr16	71965195	71965196	rs16973500	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	16q22.2	PKD1L3, KIAA0174, DHODH	rs16973500-C	0.86	7E-6				Perlegen [378332]	N
1134	chr16	72030969	72030970	rs12597458	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	16q22.2	PKD1L3	rs12597458-G	0.56	1E-7		1.11	[1.06-1.15]	Illumina [1531807] (imputed)	N
1134	chr16	72052347	72052348	rs11648003	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	16q22.2	HP, HPR, DHX38	rs11648003-G	0.22	2E-20		0.067	[0.053-0.081] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1134	chr16	72052347	72052348	rs11648003	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	16q22.2	HP, HPR, DHX38	rs11648003-G	0.22	3E-23		0.07	[0.056-0.084] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1135	chr16	72108092	72108093	rs2000999	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	16q22.2	HPR	rs2000999-A	0.20	4E-41		0.065	[NR] unit increase	NR [NR] (imputed)	N
1135	chr16	72108092	72108093	rs2000999	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	16q22.2	HPR	rs2000999-A	0.2	7E-41		0.062	[NR] unit increase	NR [NR] (imputed)	N
1135	chr16	72108092	72108093	rs2000999	22403646	Froguel P	2012-03-05	PLoS One	A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels.	Haptoglobin levels	631 European ancestry children	2,957 European ancestry family members, 1,434 European ancestry individuals	16q22.2	HP	rs2000999-A	NR	8E-59		0.138	[0.12-0.15] g/L decrease SFS family cohort	Illumina [318237]	N
1135	chr16	72108092	72108093	rs2000999	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	16q22.2	HPR, HP, DHX38	rs2000999-A	0.2	2E-22		2.0	[1.57-2.43] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1135	chr16	72108092	72108093	rs2000999	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	16q22.2	HPR, HP, DHX38	rs2000999-A	0.2	3E-24		2.34	[1.87-2.81] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1135	chr16	72114001	72114002	rs217181	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	16q22.2	HPR, HP, DHX38	rs217181-?	0.18	1E-36				Illumina [~ 2000000] (imputed)	N
1135	chr16	72205670	72205671	rs72791114	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16q22.2	NR	rs72791114-?	NR	2E-7	(AA)	1.1381	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1135	chr16	72220372	72220373	rs7186908	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	16q22.2	HPR, PMFBP1	rs7186908-C	0.24	5E-9		2.0	[1.10-2.90] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1136	chr16	72225186	72225187	rs16970670	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	16q22.2	NR	rs16970670-?	NR	4E-6	(AA)	1.0285	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1136	chr16	72257698	72257699	rs17668704	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	16q22.2	PMFBMP1	rs17668704-A	0.61	9E-6	(AA-glucose response)	3.38	[1.89-4.87] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1140	chr16	72756100	72756101	rs10500569	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	16q22.2	ZFHX3	rs10500569-?	0.23	7E-12				Illumina [~ 2000000] (imputed)	N
1141	chr16	72931084	72931085	rs16971384	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	16q22.3	ZFHX3	rs16971384-A	0.55	5E-6		0.0715	[0.041-0.102] unit decrease	Affymetrix [~ 2740000] (imputed)	N
1142	chr16	73009023	73009024	rs7199343	19132087	Burgner D	2009-01-09	PLoS Genet	A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.	Kawasaki disease	107 European ancestry cases, 134 European ancestry controls	583 European ancestry cases, 1,357 European ancestry controls from 583 families	16q22.3	ZFHX3	rs7199343-T	0.30	2E-6		1.56	[1.33-1.92]	Affymetrix [223922]	N
1142	chr16	73017060	73017061	rs16971465	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16q22.3	NR	rs16971465-C	NR	6E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
1142	chr16	73024275	73024276	rs1858800	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	16q22.3	ZFHX3	rs1858800-T	0.332	1E-18		1.36	[NR]	Illumina [8207076] (imputed)	N
1142	chr16	73029159	73029160	rs7193343	19597491	Gudbjartsson DF	2009-07-13	Nat Genet	A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke.	Atrial fibrillation	2,385 European ancestry cases, 33,752 European ancestry controls	up to 2,427 European ancestry cases, 3,379 European ancestry controls, 286 Han Chinese ancestry cases, 2,763 Han Chinese ancestry controls	16q22.3	ZFHX3	rs7193343-T	NR	1E-10		1.21	[1.14-1.29]	Illumina [303136]	N
1142	chr16	73051619	73051620	rs2106261	22544366	Ellinor PT	2012-04-29	Nat Genet	Meta-analysis identifies six new susceptibility loci for atrial fibrillation.	Atrial fibrillation	6,707 European ancestry cases, 52,426 European ancestry controls	5,381 European ancestry casses, 10,030 European ancestry  controls	16q22.3	ZFHX3	rs2106261-T	0.176	3E-16		1.24	[1.17-1.30]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1142	chr16	73051619	73051620	rs2106261	19597492	Benjamin EJ	2009-07-13	Nat Genet	Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.	Atrial fibrillation	3,413 cases, 37,105 referents	2,145 cases, 4,073 controls	16q22.3	ZFHX3	rs2106261-T	0.174	2E-15		1.25		Affymetrix, Illumina [~ 2500000] (imputed)	N
1142	chr16	73068677	73068678	rs879324	23041239	Traylor M	2012-10-05	Lancet Neurol	Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.	Stroke (ischemic)	12,389 European ancestry cases, 62,004 European ancestry controls	1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls	16q22.3	ZFHX3	rs879324-A	0.19	2E-8	(CS)	1.25	[1.15-1.35]	Affymetrix, Illumina [NR] (imputed)	N
1145	chr16	73439354	73439355	rs9934948	22232737	Shu XO	2012-01-09	Cancer Res	Novel genetic markers of breast cancer survival identified by a genome-wide association study.	Breast cancer (survival)	1,950 Chinese ancestry cases	4,160 Chinese ancestry cases	16q22.3	intergenic	rs9934948-C	NR	6E-6	(Total Mortality)	1.29	[1.16-1.44]	Affymetrix [613031]	N
1145	chr16	73501535	73501536	rs12446956	21042317	Wray NR	2010-11-02	Mol Psychiatry	Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.	Major depressive disorder	2,431 European ancestry cases, 3,673 European ancestry controls	3,332 European ancestry cases, 3,228 European ancestry controls	16q22.3	intergenic	rs12446956-C	0.13	1E-6		1.22	[NR]	Affymetrix, Illumina [1251157] (imputed)	N
1146	chr16	73581057	73581058	rs7191888	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	16q22.3	C16orf47	rs7191888-?	0.17	6E-6			[NR]	Illumina [551642]	N
1147	chr16	73713682	73713683	rs764255	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		16q22.3	intergenic	rs764255-T	0.66	2E-7		0.077	[0.048-0.106] unit decrease	Illumina [~ 2400000] (imputed)	N
1148	chr16	73829269	73829270	rs427576	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	16q22.3	intergenic	rs427576-C	0.43	4E-6	(EA-glucose response)	2.62	[1.5-3.74] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1150	chr16	74076251	74076252	rs2716601	22310353	Man M	2012-02-07	Pharmacogenomics J	Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.	Treatment response for severe sepsis	1,446 individuals	NA	16q22.3	LOC441506	rs2716601-?	NR	1E-6	(TT vs. not TT)			Illumina [856627]	N
1153	chr16	74472695	74472696	rs10871290	18463975	Kibriya MG	2008-05-08	Breast Cancer Res Treat	A pilot genome-wide association study of early-onset breast cancer.	Breast cancer	26 European ancestry cases, 3 Hispanic cases, 1 African American case, 26 European ancestry controls, 3 Hispanic controls, 1 African American control	NA	16q23.1	GLG1	3-SNPhaplotype1	0.34	4E-7				Affymetrix [200220]	N
1153	chr16	74567074	74567075	rs71391092	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16q23.1	NR	rs71391092-C	NR	8E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1154	chr16	74670457	74670458	rs4888262	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	16q23.1	RFWD3, GLG1, MLKL	rs4888262-C	0.458	5E-12		1.26	[1.18-1.34]	Illumina [NR]	N
1156	chr16	74860555	74860556	rs16947526	25383866	Kirkpatrick RM	2014-11-10	PLoS One	Results of a "GWAS Plus:" General Cognitive Ability Is Substantially Heritable and Massively Polygenic.	General cognitive ability	7,100 European ancestry individuals	NA	16q23.1	FA2H	rs16947526-?	NR	1E-6				Illumina [2546647] (imputed)	N
1156	chr16	74881819	74881820	rs16948255	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	16q23.1	intergenic	rs16948255-?	NR	1E-6	(progression)			Illumina [NR]	N
1157	chr16	74978617	74978618	rs2042415	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.1	WDR59	rs2042415-A	0.146	8E-6	(Weight change )	0.03	[NR] kg/y increase	Illumina [899892]	N
1157	chr16	74978617	74978618	rs2042415	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.1	WDR59	rs2042415-A	0.146	8E-6	(Fat mass deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1157	chr16	74978617	74978618	rs2042415	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.1	WDR59	rs2042415-A	0.146	5E-6	(Fat mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
1157	chr16	74978617	74978618	rs2042415	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.1	WDR59	rs2042415-A	0.146	3E-6	(Energy storage )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1158	chr16	75167578	75167579	rs7195303	23665963	Dubinsky MC	2013-05-09	Inflamm Bowel Dis	Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease.	Crohn's disease (time to surgery)	983 European ancestry cases	NA	16q23.1	LDHD, BCAR1, ZHP1, CTRB1/2, ZNRF1	rs7195303-G	NR	9E-6		2.1	[1.5-2.8]	Illumina [484724]	N
1159	chr16	75247244	75247245	rs7202877	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	16q23.1	intergenic	rs7202877-G	0.10	3E-15		1.28	[1.17-1.41]	Affymetrix, Illumina [841622] (imputed)	N
1159	chr16	75263660	75263661	rs7190458	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls	16q23.1	ZFP1, CTRB1, CFDP1, TMEM170A, CHST6, CHST5, TMEM231, GABARAPL2, ADAT1, KARS, TERF21P, LDHD, BCAR1, CTRB2, FA2H, WDR59, ZNFR1	rs7190458-A	0.039	1E-10		1.46	[1.30-1.65]	Illumina [608202]	N
1160	chr16	75390315	75390316	rs2865531	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	16q23.1	CFDP1	rs2865531-?	NR	2E-8	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
1160	chr16	75390315	75390316	rs2865531	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	16q23.1	CFDP1	rs2865531-T	0.42	2E-11	(FEV1/FVC)	0.031	[0.021-0.041] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1164	chr16	75991445	75991446	rs1948632	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	16q23.1	NR	rs1948632-?	0.04	8E-6		1.55	[1.30-1.90]	Affymetrix [> 333754] (imputed)	N
1167	chr16	76318541	76318542	rs7193230	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	16q23.1	CNTNAP4	rs7193230-?	NR	5E-6	(SF6)			Affymetrix [5476100] (imputed)	N
1168	chr16	76463935	76463936	rs58296637	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16q23.1	NR	rs58296637-?	NR	2E-8	(AA)	1.6165	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1169	chr16	76566156	76566157	rs4485401	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	16q23.1	CNTNAP4	rs4485401-?	NR	2E-8	(proportions)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
1171	chr16	76846265	76846266	rs113716969	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Serum dimethylarginine levels (asymmetric/symetric ratio)	5110 European ancestry individuals	NA	16q23.1	NR	rs113716969-C	0.016	2E-6		0.473	[0.28-0.67] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1171	chr16	76878861	76878862	rs13330107	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Inattentive symptoms	930 European ancestry trios	NA	16q23.1	intergenic	rs13330107-?	NR	9E-6	(binary)			Perlegen [429981]	N
1171	chr16	76890125	76890126	rs17679567	22569225	Krintel SB	2012-05-06	Pharmacogenet Genomics	Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis.	Response to TNF-alpha inhibitors in rheumatoid arthritis	196 European ancestry cases	NA	16q23.1	CNTNAP4	rs17679567-?	NR	9E-6	(Relative change in DAS28)			Illumina [486450]	N
1172	chr16	76969597	76969598	rs1982955	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	16q23.1	MON1B, CNTNAP4	rs1982955-?		4E-7	(IFN gamma response)			Illumina [NR]	N
1172	chr16	77007436	77007437	rs1995082	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	16q23.1	intergenic	rs1995082-T	0.865	2E-6		0.029	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1174	chr16	77328894	77328895	rs12935229	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	16q23.1	ADAMTS18	rs12935229-A	0.182	4E-6	(Recessive model)	1.495	[1.214-1.84]	Illumina [733202]	N
1174	chr16	77329640	77329641	rs7192208	22425255	Lopez LM	2012-03-15	Neurobiol Aging	A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity.	White matter integrity	535 European ancestry individuals	NA	16q23.1	ADAMTS18	rs7192208-G	0.11	2E-6		0.4832	[0.29-0.68] unit decrease	Illumina [542050]	N
1175	chr16	77428971	77428972	rs16945612	19249006	Xiong DH	2009-02-25	Am J Hum Genet	Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.	Bone mineral density	1,000 European ancestry individuals	4,925 European ancestry individuals, 350 Chinese ancestry hip fracture cases, 350 Chinese ancestry hip fracture controls, 2,955 Chinese ancestry individuals, 908 West African ancestry males	16q23.1	ADAMTS18	rs16945612-?		2E-8	(hip BMD)			Affymetrix [379319]	N
1178	chr16	77783579	77783580	rs4888671	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.1	NUDT7	rs4888671-A	0.152	7E-6	(Folate )	0.03	[NR] nmol/L increase	Illumina [899892]	N
1179	chr16	77876762	77876763	rs9934540	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		16q23.1	VAT1L	rs9934540-?	0.03	4E-7		0.25	unit decrease	Illumina [NR] (imputed)	N
1179	chr16	77916190	77916191	rs435746	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	16q23.1	NR	rs435746-?	NR	3E-6		1.283	[NR]	Affymetrix [722112]	N
1180	chr16	78053642	78053643	rs2735413	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	16q23.1	CLEC3A	rs2735413-A	0.31	9E-7	(drinks/week)	0.158	[0.089-0.227] unit increase	Affymetrix [2500000] (imputed)	N
1181	chr16	78187137	78187138	rs1079572	24929828	Loth DW	2014-06-15	Nat Genet	Genome-wide association analysis identifies six new loci associated with forced vital capacity.	Forced vital capacity	52,253 European ancestry indiviudals	32,917 European ancestry individuals, 6,070 African American individuals, 849 Hispanic individuals, 8,637 East Asian ancestry individuals	16q23.1	WWOX	rs1079572-G	0.417	1E-8	(EA)	16.258	[10.70-21.82] ml increase	Affymetrix, Illumina [2762059] (imputed)	N
1181	chr16	78187902	78187903	rs12716850	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	16q23.1	WWOX	rs12716850-A	NR	1E-7	(FEV1, Ever-smoking)			NR [~ 2500000] (imputed)	N
1181	chr16	78188495	78188496	rs8056446	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	16q23.1	WWOX	rs8056446-A	NR	8E-8	(FEV1, Pack-years			NR [~ 2500000] (imputed)	N
1181	chr16	78188737	78188738	rs12716852	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	16q23.1	WWOX	rs12716852-G	NR	2E-7	(FEV1)	0.025	[0.015-0.035] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1182	chr16	78258809	78258810	rs2059238	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Cardiac structure and function	12,612 European ancestry individuals	4,094 European ancestry individuals	16q23.1	WWOX	rs2059238-A	0.22	3E-6	(LV wall thickness)	0.02	[0.01-0.03] cm decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1182	chr16	78335043	78335044	rs78867184	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	16q23.1	WWOX	rs78867184-G	NR	9E-6		0.213	unit increase	Illumina [5767231] (imputed)	N
1183	chr16	78466703	78466704	rs11150078	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	16q23.1	WWOX	rs11150078-?	NR	2E-6				NR [up to 8466825] (imputed)	N
1184	chr16	78569956	78569957	rs17706989	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	16q23.1	WWOX	rs17706989-?	0.03	1E-6	(olanzapine)			Affymetrix [492900]	N
1184	chr16	78631793	78631794	rs2859631	20923822	Niu N	2010-10-05	Genome Res	Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.	Radiation response	93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines	NA	16q23.1	WWOX	rs2859631-?	0.07	1E-6				Affymetrix, Illumina [1348798]	N
1187	chr16	78913386	78913387	rs2656620	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	16q23.1	NR	rs2656620-A	NR	2E-6		0.23	[0.13-0.33] unit increase	NR [5896100] (imputed)	N
1187	chr16	78952438	78952439	rs9923451	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	16q23.1	WWOX	rs9923451-?	NR	8E-7	(HIP)			Illumina [~ 550000]	N
1188	chr16	79040103	79040104	rs113496184	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16q23.1	NR	rs113496184-?	NR	2E-7	(AA)	1.256	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1188	chr16	79058256	79058257	rs11642282	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	16q23.1	WWOX	rs11642282-?	NR	7E-6	(AUC)			NR [2092490]	N
1188	chr16	79073420	79073421	rs17713676	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	16q23.1	WWOX	rs17713676-?	NR	8E-6	(SF3)			Affymetrix [5476100] (imputed)	N
1188	chr16	79155916	79155917	rs9940536	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	16q23.1	intergenic	rs9940536-T	0.321	3E-6		0.022	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1189	chr16	79186885	79186886	rs8050187	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	16q23.1	WWOX	rs8050187-T	0.736	7E-6		0.044	[0.024-0.064] unit decrease	Illumina [6150213] (imputed)	N
1189	chr16	79252323	79252324	rs270421	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	16q23.2	WWOX	rs270421-C	0.28	8E-6	(AA)	0.19	[0.11-0.27] unit increase	Illumina [up to 905285]	N
1190	chr16	79363813	79363814	rs7191820	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.2	intergenic	rs7191820-A	0.486	6E-6	(Height z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
1190	chr16	79406917	79406918	rs17797882	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	16q23.2	WWOX	rs17797882-T	0.32	9E-7		1.08	[1.05-1.12]	Affymetrix, Illumina [2626356] (imputed)	N
1191	chr16	79431852	79431853	rs4888966	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	16q23.2	LOC729251	rs4888966-?	NR	5E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1192	chr16	79573750	79573751	rs190369	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Lifetime average cigarettes per day in chronic obstructive pulmonary disease	3,440 European ancestry cases	NA	16q23.2	intergenic	rs190369-C	0.05	9E-6		0.161	unit increase	Illumina [~ 6300000] (imputed)	N
1192	chr16	79585020	79585021	rs7498403	20668459	Kim HN	2010-07-29	J Hum Genet	Genetic variants that affect length/height in infancy/early childhood in Vietnamese-Korean families.	Height	518 Vietnamese-Korean ancestry individuals from 165 families	NA	16q23.2	MAF	rs7498403-C	0.11	5E-6				Illumina [269888]	N
1192	chr16	79614115	79614116	rs30388	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	16q23.2	NR	rs30388-T	NR	1E-6	(phenotype 1)	2.88	[NR]	Illumina [> 8000000] (imputed)	N
1192	chr16	79645988	79645989	rs889472	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (urea)	21,417 East Asian ancestry individuals	11,657 East Asian ancestry individuals	16q23.2	MAF	rs889472-C	0.57	1E-9		0.0711	[0.048-0.094] mg/dl increase	Affymetrix, Illumina [2278301] (imputed)	N
1192	chr16	79652540	79652541	rs386965	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	16q23.2	MAF	rs386965-G	NR	4E-6		1.09	[1.07-1.11]	Illumina [465434]	N
1192	chr16	79682750	79682751	rs1424233	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	16q23.2	MAF	rs1424233-A	0.48	2E-8	(adults)	1.39	[1.23-1.40]	Illumina [308846]	N
1192	chr16	79682750	79682751	rs1424233	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	16q23.2	MAF	rs1424233-A	0.43	4E-13				Illumina [308846]	N
1192	chr16	79682750	79682751	rs1424233	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	16q23.2	MAF	rs1424233-A	0.43	2E-6	(children)	1.12	[1.00-1.24]	Illumina [308846]	N
1193	chr16	79700446	79700447	rs4889009	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	16q23.2	NR	rs4889009-G		3E-7		1.14	[1.08-1.21]	Affymetrix, Illumina [up to 3437411] (imputed)	N
1193	chr16	79734986	79734987	rs7188445	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	16q23.2	MAF	rs7188445-A	0.33	2E-9		0.032	[0.022-0.042] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1193	chr16	79744547	79744548	rs17767419	21565293	Teumer A	2011-05-13	Am J Hum Genet	Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.	Thyroid volume	3,620 European ancestry individuals	1,290 European ancestry individuals	16q23.2	MAF	rs17767419-T	0.321	9E-15	(thyroid volume)	0.068	[0.05-0.09] unit increase	Affymetrix [2748910] (imputed)	N
1193	chr16	79749275	79749276	rs3813579	21565293	Teumer A	2011-05-13	Am J Hum Genet	Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.	Thyroid volume	3,620 European ancestry individuals	1,290 European ancestry individuals	16q23.2	MAF	rs3813579-A	0.518	4E-10	(goiter)	1.32	[1.21-1.44]	Affymetrix [2748910] (imputed)	N
1193	chr16	79749352	79749353	rs3813582	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	16q23.2	LOC440389, MAF	rs3813582-T	0.674	8E-18	(TSH)	0.082	[0.062-0.102] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1193	chr16	79749352	79749353	rs3813582	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	16q23.2	LOC440389, MAF	rs3813582-T	0.674	6E-17	(TSH - Males)	0.115	[0.088-0.142] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1193	chr16	79749352	79749353	rs3813582	22494929	Rawal R	2012-04-16	Hum Mol Genet	Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.	Thyroid function	3,736 European ancestry individuals	3,727 European ancestry individuals	16q23.2	LOC440389, MAF	rs3813582-T	0.681	6E-10		0.068	[0.046-0.090] unit increase	Affymetrix, Illumina [2524918] (imputed)	N
1193	chr16	79755445	79755446	rs4575545	24852370	Zhan M	2014-05-22	Hum Mol Genet	Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.	Serum thyroid-stimulating hormone levels	1,346 Han Chinese ancestry individuals	3,235 She Chinese ancestry individuals	16q23.2	MAF	rs4575545-?		2E-6				Illumina [8503852] (imputed)	N
1195	chr16	79991691	79991692	rs10514475	25649181	Noordam R	2015-01-20	J Psychiatr Res	Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study.	Depressive symptoms (SSRI exposure interaction)	175 users,  6,268 nonusers	NA	16q23.2	MAF	rs10514475-A	0.06	2E-8		1.11	[0.87-1.35] unit increase	Illumina [NR] (imputed)	N
1196	chr16	80192604	80192605	rs8060581	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	16q23.2	DYNLRB2	rs8060581-?	0.02466	1E-6	(ACL, LAC, or Anti-B2 GPI)	6.714	[NR]	Affymetrix [906600]	N
1197	chr16	80305550	80305551	rs11859036	23761726	Yazar S	2013-06-06	Mol Vis	Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.	Corneal astigmatism	2,784 European ancestry individuals		16q23.2	NR	rs11859036-A	NR	7E-6		0.128	[0.071-0.185] unit increase	Illumina [~ 2500000] (imputed)	N
1199	chr16	80497600	80497601	rs4581712	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	16q23.2	DYNLRB2	rs4581712-A	0.27	3E-9		3.2	[2.50-3.90] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1200	chr16	80650804	80650805	rs13329835	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	16q23.2	CDYL2	rs13329835-G	0.22	2E-16		1.08	[1.05-1.10]	Affymetrix, Illumina [~ 2600000] (imputed)	N
1201	chr16	80745774	80745775	rs41472047	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	16q23.2	NR	rs41472047-?	NR	8E-6	(females)			Illumina [1211988] (imputed)	N
1204	chr16	81156521	81156522	rs4889240	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	16q23.2	PKD1L2, C16orf46	rs4889240-T	0.45	7E-6				Perlegen [378332]	N
1204	chr16	81264596	81264597	rs6564851	19185284	Ferrucci L	2009-01-29	Am J Hum Genet	Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.	Carotenoid and tocopherol levels	1,191 European ancestry individuals	2,540 European ancestry individuals, 211 individuals	16q23.2	BCMO1	rs6564851-G	0.39	2E-24	(beta-carotene)	0.15	[0.120-0.177] umol/L increase	Illumina [~ 500451]	N
1205	chr16	81303758	81303759	rs4889294	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	16q23.2	BCM01	rs4889294-?	0.47	5E-7	(IL1B)			Illumina [496032]	N
1206	chr16	81457658	81457659	rs8044853	25352737	Ritchie MD	2014-09-19	Mol Vis	Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.	Age-related cataracts	5,503 European, Black, and other ancestry cases age 50 and older, 1,894 European, Black, and other ancestry controls age 50 and older	NA	16q23.2	CMIP, GAN	rs8044853-?	0.665	2E-6		1.41	[NR]	Illumina [530101]	N
1206	chr16	81473648	81473649	rs310008	23667675	Tanikawa C	2013-05-07	PLoS One	Genome wide association study of age at menarche in the Japanese population.	Menarche (age at onset)	15,495 Japanese ancestry females	NA	16q23.2	CMIP	rs310008-G	0.13392	4E-6		0.1076	[0.062-0.153] year decrease	Illumina [2310762] (imputed)	N
1206	chr16	81489372	81489373	rs16955379	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	16q23.2	CMIP	rs16955379-C	0.80	3E-7		1.08	[1.05-1.12]	Affymetrix, Illumina [2626356] (imputed)	N
1207	chr16	81533788	81533789	rs56823429	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	16q23.2	CMIP	rs56823429-A	0.71	2E-8		0.037	[0.023-0.051] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1207	chr16	81534789	81534790	rs2925979	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	16q23.2	CMIP	rs2925979-T	0.3069	1E-7		0.019	[0.012-0.026] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1207	chr16	81534789	81534790	rs2925979	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	16q23.2	CMIP	rs2925979-T	0.3065	7E-13	(women)	0.0342	[0.025-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1207	chr16	81534789	81534790	rs2925979	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	16q23.2	CMIP	rs2925979-T	0.306	1E-6	(EA)	0.0178	[0.011-0.025] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1207	chr16	81534789	81534790	rs2925979	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	16q23.2	CMIP	rs2925979-T	0.3055	3E-11	(EA, women)	0.0323	[0.023-0.042] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1207	chr16	81534789	81534790	rs2925979	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	16q23.2	CMIP	rs2925979-T	0.411	2E-10		0.08	[0.060-0.100] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1207	chr16	81534789	81534790	rs2925979	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	16q23.2	CMIP	rs2925979-T	0.31	1E-19		0.035	[NR] unit decrease	NR [NR] (imputed)	N
1207	chr16	81534789	81534790	rs2925979	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	16q23.2	CMIP	rs2925979-T	0.30	3E-21		0.04	[0.032-0.048] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1207	chr16	81534789	81534790	rs2925979	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	16q23.2	CMIP	rs2925979-T	0.3	2E-11		0.45	[0.29-0.61] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1208	chr16	81774797	81774798	rs12446319	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	261 Japanese ancestry cases, 262 Japanese ancestry controls	NA	16q23.3	CMIP	rs12446319-A	0.143	9E-6	(Allelic model)	2.026	[1.48-2.774]	Illumina [733202]	N
1210	chr16	81958297	81958298	rs7192724	24080446	Rudolph A	2013-11-04	Endocr Relat Cancer	Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.	Breast cancer (menopausal hormone therapy interaction)	2,920 European ancestry cases	7,689 European ancestry cases, 9,266 European ancestry controls	16q23.3	PLCG2	rs7192724-?		3E-6		1.24	[1.13-1.36]	Illumina [2500000] (imputed)	N
1210	chr16	81960957	81960958	rs3813009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16q23.3	NR	rs3813009-C	0.223729928793947	4E-7	(IGP8)	0.2122	[0.13-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
1210	chr16	81960957	81960958	rs3813009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16q23.3	NR	rs3813009-C	0.223729928793947	4E-6	(IGP48)	0.1929	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
1213	chr16	82326804	82326805	rs11863065	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.3	MPHOSPH6	rs11863065-A	0.03	9E-7	(Total energy expenditure )	0.04	[NR] kcal/d increase	Illumina [899892]	N
1213	chr16	82326804	82326805	rs11863065	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.3	MPHOSPH6	rs11863065-A	0.03	9E-6	(BMI )	0.02	[NR] kg/m2 increase	Illumina [899892]	N
1213	chr16	82326804	82326805	rs11863065	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.3	MPHOSPH6	rs11863065-A	0.03	5E-6	(Sleep energy expenditure )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1213	chr16	82326804	82326805	rs11863065	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.3	MPHOSPH6	rs11863065-A	0.03	4E-7	(Weight )	0.03	[NR] kg increase	Illumina [899892]	N
1213	chr16	82326804	82326805	rs11863065	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.3	MPHOSPH6	rs11863065-A	0.03	3E-6	(BMI z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1213	chr16	82326804	82326805	rs11863065	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.3	MPHOSPH6	rs11863065-A	0.03	1E-7	(Hip circumference )	0.04	[NR] cm increase	Illumina [899892]	N
1213	chr16	82326804	82326805	rs11863065	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q23.3	MPHOSPH6	rs11863065-A	0.03	1E-6	(Weight z-score )	0.03	[NR] SD increase	Illumina [899892]	N
1213	chr16	82377780	82377781	rs4087296	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Bone mineral density	Up to 1,141 individuals from 241 families	NA	16q23.3	intergenic	rs4087296-?	NR	3E-7	(TRBMDf)			Affymetrix [70897]	N
1213	chr16	82379952	82379953	rs4082514	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	16q23.3	AC009117.8	rs4082514-?	0.02741	3E-6	(PC1)			Illumina [475971]	N
1214	chr16	82457732	82457733	rs7187223	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Non-word repetition	6,649 European ancestry children and adolescents	NA	16q23.3	intergenic	rs7187223-A	0.96	1E-7		0.251	[0.16-0.34] unit increase	Illumina [~ 2400000] (imputed)	N
1214	chr16	82485250	82485251	rs8053728	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	16q23.3	CDH13	rs8053728-?	NR	6E-6	(Baseline)	0.18	[0.10-0.26] ng/dL decrease	Affymetrix [2543887] (imputed)	N
1214	chr16	82519227	82519228	rs1991867	24736177	Sprooten E	2014-04-13	Neuroimage	Common genetic variants and gene expression associated with white matter microstructure in the human brain.	White matter microstructure (global fractional anisotropy)	727 Mexican American individuals from 65 families, 49 Mexican American individuals	NA	16q23.3	intergenic	rs1991867-?		2E-9				Illumina [929187]	N
1214	chr16	82519227	82519228	rs1991867	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	16q23.3	CDH13	rs1991867-C	0.111	4E-6		0.044	[NR] % decrease	Affymetrix, Illumina [2522393] (imputed)	N
1215	chr16	82594382	82594383	rs4783227	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	16q23.3	intergenic	rs4783227-?	0.424	4E-7	(olanzapine-total cholesterol)			Affymetrix [492900]	N
1215	chr16	82642650	82642651	rs11646213	19304780	Org E	2009-03-20	Hum Mol Genet	Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.	Hypertension	364 European ancestry cases, 590 European ancestry controls	1,043 European ancestry cases, 1,769 European ancestry controls	16q23.3	CDH13	rs11646213-T	0.60	8E-6		1.28	[1.15-1.43]	Affymetrix [395912]	N
1215	chr16	82646332	82646333	rs3844412	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)	57 Japanese ancestry cases, 63 Japanese ancestry controls	NA	16q23.3	CDH13	rs3844412-A	0.11	4E-7	(Dominant)	5.22	[2.67-10.2]	Illumina [555600]	N
1215	chr16	82650716	82650717	rs3865188	20887962	Jee SH	2010-10-08	Am J Hum Genet	Adiponectin concentrations: a genome-wide association study.	Adiponectin levels	4,001 Korean ancestry individuals	2,304 Korean ancestry individuals	16q23.3	CDH13	rs3865188-?	0.30	3E-83		0.09	[NR] ug/ml decrease	Affymetrix [up to 354357]	N
1215	chr16	82650716	82650717	rs3865188	20876611	Wu Y	2010-09-27	Hum Mol Genet	Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.	Adiponectin levels	1,776 Filipino ancestry female individuals	1,774 Filipino ancestry offspring	16q23.3	CDH13	rs3865188-T	0.47	4E-30		0.11	[0.09-0.13] unit decrease	Affymetrix [2073674] (imputed)	N
1215	chr16	82662267	82662268	rs4783244	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	16q23.3	CDH13	rs4783244-T	0.360	7E-165		0.33	[0.31-0.35] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1215	chr16	82662267	82662268	rs4783244	21771975	Chung CM	2011-07-19	Diabetes	A genome-wide association study reveals a quantitative trait locus of adiponectin on CDH13 that predicts cardiometabolic outcomes.	Adiponectin levels	382 Han Chinese ancestry young-onset-hypertensive cases	559 Han Chinese ancestry young-onset-hypertensive cases	16q23.3	CDH13	rs4783244-T	0.30	6E-17	(Second stage)	0.346	[0.24-0.46] ug/mL increase	Illumina [509174]	N
1215	chr16	82663287	82663288	rs12051272	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	16q23.3	CDH13	rs12051272-T	0.03	1E-14		0.26	[0.20-0.32] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1215	chr16	82663287	82663288	rs12051272	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	16q23.3	CDH13, CMIP	rs12051272-T	NR	6E-48		0.26	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1215	chr16	82663287	82663288	rs12051272	22065538	Morisaki H	2011-11-07	Hum Mutat	CDH13 gene coding T-cadherin influences variations in plasma adiponectin levels in the Japanese population.	Adiponectin levels	3,310 Japanese ancestry individuals	NA	16q23.3	CDH13	rs12051272-?	NR	5E-40				Illumina [348622]	N
1215	chr16	82664832	82664833	rs139419280	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	16q23.3	NR	rs139419280-G	0.998	8E-6		1.985	[1.11-2.86] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
1215	chr16	82692811	82692812	rs8057927	23358160	Borglum AD	2013-01-29	Mol Psychiatry	Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci.	Schizophrenia	888 European ancestry cases, 882 European ancestry controls	2539 European ancestry cases, 5486 European ancestry controls	16q23.3	CDH13	rs8057927-C	0.069	1E-6		1.342		Illumina [541148]	N
1215	chr16	82697660	82697661	rs12446301	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	16q23.3	NR	rs12446301-T	0.1567	2E-7	(Trans/trans-18:2, EA)	0.0021	[0.0013-0.0029] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1215	chr16	82703844	82703845	rs10514550	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	16q23.3	NR	rs10514550-T	0.8577	7E-7	(Trans/trans-18:2, EA)	0.0018	[0.001-0.0026] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1215	chr16	82704527	82704528	rs9934935	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	16q23.3	NR	rs9934935-A	0.1645	3E-7	(Trans/trans-18:2, EA)	0.0018	[0.0012-0.0024] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1216	chr16	82710817	82710818	rs16958145	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	16q23.3	NR	rs16958145-T	0.1086	3E-6	(Trans/trans-18:2, EA)	0.0021	[0.0013-0.0029] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1216	chr16	82710855	82710856	rs16958148	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	16q23.3	NR	rs16958148-T	0.8375	8E-8	(Trans/trans-18:2, EA)	0.002	[0.0012-0.0028] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1216	chr16	82746936	82746937	rs11646411	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	16q23.3	CDH13	rs11646411-?	NR	7E-6				Affymetrix [504219]	N
1216	chr16	82787052	82787053	rs8056064	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		16q23.3	NR	rs8056064-G	0.15	2E-6	(t11;14 vs. controls)	1.68	[1.36-2.08]	Illumina [414804] (imputed)	N
1216	chr16	82817590	82817591	rs12386026	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	16q23.3	NR	rs12386026-?	0.04	2E-6		1.66	[1.30-2.00]	Affymetrix [> 333754] (imputed)	N
1217	chr16	82848207	82848208	rs12598815	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16q23.3	NR	rs12598815-?	NR	1E-7	(AA)	1.2435	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1217	chr16	82924684	82924685	rs12933472	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	16q23.3	CDH13	rs12933472-?		8E-6	(SG)	0.12	[0.061-0.179] unit decrease	Illumina [693128]	N
1217	chr16	82962762	82962763	rs17675602	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	16q23.3	intergenic	rs17675602-T	0.13	5E-6		1.21	[1.12-1.32]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1219	chr16	83143452	83143453	rs9922134	25729143	Ahmetov I	2014-10-21	Biol Sport	Genome-wide association study identifies three novel genetic markers associated with elite endurance performance.	Maximal oxygen uptake response	15 Russian ancestry male long endurance athletes, 17 Russian ancestry female long endurance athletes, 31 Russian ancestry middle and short endurance athletes, 17 Russian ancestry middle and short endurance athletes	NA	16q23.3	CDH13	rs9922134-C	NR	9E-6	(MMSE, FMSE)			Illumina [1140419]	N
1219	chr16	83212397	83212398	rs8055236	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	(see Samani 2007)	16q23.3	intergenic	rs8055236-G	0.80	6E-6		1.91	[1.33-2.74]	Affymetrix [469557]	N
1220	chr16	83284337	83284338	rs10514585	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	16q23.3	CDH13	rs10514585-A	0.31	5E-6		0.15	[NR] unit increase	Affymetrix, Illumina [up to 2500000] (imputed)	N
1220	chr16	83326058	83326059	rs11644424	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)	64 Japanese ancestry cases, 27 Japanese ancestry controls	NA	16q23.3	CDH13	rs11644424-T	0.44	8E-6	(Dominant)	3.32	[1.71-6.44]	Illumina [555600]	N
1220	chr16	83358775	83358776	rs6563898	23967269	Kim JH	2013-08-13	PLoS One	A genome-wide association study of total serum and mite-specific IgEs in asthma patients.	IgE levels in asthmatics (D.f. specific)	404 Korean ancestry D.f.-positive cases, 473 Korean ancestry D.f.-negative cases	NA	16q23.3	CDH13	rs6563898-G	0.523	8E-6		1.82	[1.39-2.38]	Illumina [442089]	N
1220	chr16	83360774	83360775	rs9940464	23717212	Band G	2013-05-23	PLoS Genet	Imputation-based meta-analysis of severe malaria in three African populations.	Malaria	5,425 African ancestry cases, 6,891 African ancestry controls	NA	16q23.3	NR	rs9940464-T	NR	5E-7		1.17	[1.10-1.25]	Illumina [1300000] (imputed)	N
1221	chr16	83487470	83487471	rs17216786	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	16q23.3	CDH13	rs17216786-?	0.054	1E-6	(clozapine-triglycerides)			Affymetrix [492900]	N
1222	chr16	83555524	83555525	rs4074373	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of beta-cell function (interaction)	820 European ancestry individuals	NA	16q23.3	CDH13	rs4074373-G	0.158	7E-6	(n-6 PUFA)			Affymetrix [590000]	N
1223	chr16	83639334	83639335	rs6563943	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	16q23.3	CDH13	rs6563943-A	0.32	6E-6		0.05	[0.03-0.07] cm increase	Illumina [420885]	N
1223	chr16	83652901	83652902	rs9939760	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	16q23.3	NR	rs9939760-?		9E-6	(females)			Illumina [1211988] (imputed)	N
1223	chr16	83712434	83712435	rs3784943	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	16q23.3	CDH13	rs3784943-?	NR	5E-8	(SF1)			Affymetrix [5476100] (imputed)	N
1224	chr16	83757327	83757328	rs3784962	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	16q23.3	AC009063.8	rs3784962-?	NR	6E-6	(PC1)			Illumina [up to 563855]	N
1224	chr16	83757327	83757328	rs3784962	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	16q23.3	AC009063.8	rs3784962-?	NR	3E-6	(TrailsB)			Illumina [up to 563855]	N
1224	chr16	83764203	83764204	rs3096277	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Blood pressure	Up to 1,327 individuals	NA	16q23.3	CDH13	rs3096277-?	NR	1E-9	(SBPLTA)			Affymetrix [70897]	N
1224	chr16	83771495	83771496	rs444881	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16q23.3	NR	rs444881-C	0.585534589548906	4E-6	(IGP18)	0.1441	[0.083-0.206] unit decrease	Illumina [~ 2500000] (imputed)	N
1224	chr16	83783827	83783828	rs149740259	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	16q23.3	CDH13	rs149740259-A	0.01	9E-6	(Age 20-60 years)	0.2412	[0.14-0.35] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1226	chr16	84031481	84031482	rs12926503	25378290	McQueen MB	2014-11-07	Behav Genet	The National Longitudinal Study of Adolescent to Adult Health (Add Health) Sibling Pairs Genome-Wide Data.	Body mass index (change over time)	917 European ancestry individuals, 677 African American individuals, 209 Hispanic individuals, 73 Asian ancestry individuals, 8 Native American ancestry individuals, 2 individuals	NA	16q23.3	NECAB2	rs12926503-A	0.85	9E-6		1.23	[0.69-1.77] unit increase	Illumina [717411]	N
1226	chr16	84046714	84046715	rs11864146	23213074	Adams LA	2012-12-05	Hepatology	Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	126 European ancestry adolescent cases, 802 European ancestry adolescent controls	NA	16q23.3	SLC38, A8	rs11864146-A	0.100	2E-6		3.14	[0.65-5.63]	Illumina [2078805] (imputed)	N
1227	chr16	84213683	84213684	rs4150167	22843504	Anney R	2012-07-26	Hum Mol Genet	Individual common variants exert weak effects on the risk for autism spectrum disorderspi.	Autism	1,419 European ancestry cases from 1416 families	1,314 European ancestry cases from 1301 families	16q24.1	TAF1C	rs4150167-?	NR	3E-7	(Spectrum, all)	1.96	[1.52-2.56]	Illumina [947233]	N
1227	chr16	84274404	84274405	rs746080	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	16q24.1	ADAD2, TAF1C, KCNG4, WFDC1	rs746080-T	0.31	6E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1228	chr16	84310398	84310399	rs138642423	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	16q24.1	NR	rs138642423-G	0.011	7E-6		0.477	[0.27-0.68] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
1228	chr16	84338233	84338234	rs16963349	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	16q24.1	WFDC1	rs16963349-C	0.002	1E-7	(drinks/week)	1.178	[0.67-1.68] unit increase	Affymetrix [2500000] (imputed)	N
1229	chr16	84423033	84423034	rs8048576	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	16q24.1	ATP2C2	rs8048576-A	0.12	9E-13	(SP-D)			Illumina [588352]	N
1229	chr16	84446383	84446384	rs10514604	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	16q24.1	ATP2C2	rs10514604-?	NR	8E-7				Affymetrix [504219]	N
1230	chr16	84578240	84578241	rs371915	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	16q24.1	NR	rs371915-?	0.87	2E-8		1.9	[1.44-2.50]	Illumina [~ 550000]	N
1230	chr16	84623483	84623484	rs1429264	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	16q24.1	COTL1	rs1429264-?	0.01	9E-7		8.4	[NR]	Affymetrix [4893794] (imputed)	N
1231	chr16	84685508	84685509	rs11647936	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Waist circumference	1,779 Filipino ancestry females	NA	16q24.1	KLHL36	rs11647936-A	0.77	4E-6		2.29	[1.32-3.26 cm increase	Affymetrix [2073674] (imputed)	N
1231	chr16	84796602	84796603	rs12932018	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (everolimus)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	16q24.1	USP10	rs12932018-?	NR	6E-6		0.25	[NR] unit increase	Affymetrix, Illumina [1348798]	N
1233	chr16	84987678	84987679	rs2326458	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	16q24.1	ZDHHC7	rs2326458-A	0.751	5E-10		0.022	[0.014-0.03] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1233	chr16	84987678	84987679	rs2326458	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	16q24.1	ZDHHC7, CRISPLD2, USP10	rs2326458-C	0.26	8E-7		5.1	[3.14-7.06] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1233	chr16	85055740	85055741	rs4597304	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	16q24.1	NR	rs4597304-?	NR	4E-6		2.733	[NR]	Illumina [4196861] (imputed)	N
1234	chr16	85092747	85092748	rs8056742	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	16q24.1	KIAA0513	rs8056742-C	0.11	5E-7	(Joint)	1.27	[1.14-1.41]	Illumina [254145]	N
1234	chr16	85103884	85103885	rs17789174	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	16q24.1	KIAA0513	rs17789174-?	NR	7E-6		2.57	[1.71-3.89]	Illumina [4196861] (imputed)	N
1238	chr16	85625126	85625127	rs4240810	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	16q24.1	KIAA0182	rs4240810-?		7E-6				Illumina [859311]	N
1239	chr16	85836255	85836256	rs2733954	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	16q24.1	COX4I1	rs2733954-C	0.721	4E-7		1.14	[NR]	Illumina [4577171] (imputed)	N
1240	chr16	85906615	85906616	rs11648716	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	16q24.1	COX4I1	rs11648716-G	0.08	7E-6	(EA-triglyceride response)	39.68	[22.37-56.99] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1240	chr16	85927813	85927814	rs391023	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	16q24.1	IRF8	rs391023-G	0.63	5E-17		1.33	[NR]	Illumina [549934]	N
1240	chr16	85944438	85944439	rs391525	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	16q24.1	IRF8	rs391525-?	0.66	3E-9		1.56	[1.35-1.82]	Affymetrix [827777]	N
1240	chr16	85946449	85946450	rs424971	23314186	Crosslin DR	2013-03-03	Hum Mol Genet	Genetic variation associated with circulating monocyte count in the eMERGE Network.	Monocyte count	9,849 European ancestry individuals, 894 African ancestry individuals, 271 individuals	NA	16q24.1	IRF8	rs424971-G	0.47	3E-16		0.22	unit decrease	Illumina [NR]	N
1240	chr16	85955670	85955671	rs1044873	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	16q24.1	IRF8	rs1044873-C	0.61	1E-9		1.29	[NR]	Illumina [450000] (imputed)	N
1240	chr16	85961561	85961562	rs17444745	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QRS duration	455 African American individuals	NA	16q24.1	intergenic	rs17444745-A		7E-6		6.4	[NR] ms decrease	Illumina [> 930000]	N
1240	chr16	85973027	85973028	rs12711490	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	16q24.1	IRF8	rs12711490-?	NR	3E-10		1.28	[NR]	Illumina [NR]	N
1240	chr16	85975658	85975659	rs305061	22700719	Slager SL	2012-06-13	Blood	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,121 European ancestry cases, 3,745 European ancestry controls	861 European ancestry cases, 2,033 European ancestry controls	16q24.1	NR	rs305061-?	0.73	9E-8		1.33	[1.2-1.49]	Affymetrix, Illumina [~ 1500000] (imputed)	N
1241	chr16	85991704	85991705	rs11642873	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	16q24.1	IRF8	rs11642873-?	0.81	2E-12	(IcSSc)	1.33	[1.23-1.45]	Illumina [NR] (imputed)	N
1241	chr16	85993133	85993134	rs2361763	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	16q24.1	NR	rs2361763-C	0.494	3E-6		1.72	[1.37-2.16]	Illumina [7261187] (imputed)	N
1241	chr16	86009685	86009686	rs2361755	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	16q24.1	NR	rs2361755-C	0.92	6E-14	(EA)	1.1951665		Affymetrix, Illumina [~ 9000000] (imputed)	N
1241	chr16	86009739	86009740	rs16940186	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	16q24.1	IRF8	rs16940186-G	0.21	4E-10		1.56	[1.36-1.80]	Illumina [581060]	N
1241	chr16	86011032	86011033	rs13333054	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	16q24.1	IRF8	rs13333054-A	NR	1E-8		1.11	[1.1-1.13]	Illumina [465434]	N
1241	chr16	86011336	86011337	rs10521318	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	16q24.1	IRF8	rs10521318-C	0.915	1E-9		1.155	[1.094-1.219]	Affymetrix, Illumina [1230000] (imputed)	N
1241	chr16	86014240	86014241	rs16940202	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	16q24.1	intergenic	rs16940202-C	0.22	3E-9		1.52	[1.32-1.74]	Illumina [581060]	N
1241	chr16	86014240	86014241	rs16940202	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	16q24.1	intergenic	rs16940202-C	0.18	6E-19		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1241	chr16	86014880	86014881	rs11641016	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	16q24.1	NR	rs11641016-?	NR	1E-16	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1241	chr16	86017662	86017663	rs17445836	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	16q24.1	IRF8	rs17445836-G	0.81	4E-9		1.25	[1.12-1.39]	Affymetrix, Illumina [~ 2560000] (imputed)	N
1241	chr16	86018632	86018633	rs2280381	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	16q24.1	IRF8	rs2280381-T	0.84	2E-6		1.12	[1.07-1.17]	Affymetrix, Illumina [1948139]	N
1241	chr16	86019086	86019087	rs13330176	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	16q24.1	IRF8	rs13330176-A	0.3	1E-12		1.12	[1.09-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1241	chr16	86019086	86019087	rs13330176	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	16q24.1	IRF8	rs13330176-A	0.23	9E-9	(EA)	1.12	[1.08-1.17]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1241	chr16	86019270	86019271	rs11117432	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	16q24.1	intergenic	rs11117432-G	0.76	5E-11		1.31	[1.21-1.43]	Illumina [507467]	N
1241	chr16	86104141	86104142	rs8050326	23857890	Power RA	2013-07-15	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis accounting for environmental factors through propensity-score matching: application to stressful live events in major depressive disorder.	Major depressive disorder	805 European ancestry cases, 805 European ancestry controls	NA	16q24.1	IRF8	rs8050326-A	0.44	3E-7		1.45	[1.26-1.76]	Illumina [457670]	N
1242	chr16	86171279	86171280	rs2352930	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	16q24.1	intergenic	rs2352930-?	NR	7E-6		2.5	[1.68-3.73]	Illumina [4196861] (imputed)	N
1242	chr16	86186071	86186072	rs1809845	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	16q24.1	intergenic	rs1809845-G	0.984197222222222	7E-6		0.124588	[0.07-0.179] unit increase	Illumina [1632371] (imputed)	N
1243	chr16	86304260	86304261	rs7191751	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	16q24.1	intergenic	rs7191751-?		2E-6				NR [~ 3000000] (imputed)	N
1243	chr16	86322458	86322459	rs987052	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q24.1	intergenic	rs987052-G	0.438	7E-7	(NEFA )	0.03	[NR] mmol/L increase	Illumina [899892]	N
1243	chr16	86365570	86365571	rs2696835	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	16q24.1	IRF8, LOC732275	rs2696835-C	0.03	3E-6		2.27	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
1243	chr16	86368525	86368526	rs4083242	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q24.1	LOC401864, LOC732275	rs4083242-A	0.336	1E-7	(Sedentary&light activity )	0.03	[NR] min/d increase	Illumina [899892]	N
1243	chr16	86369879	86369880	rs2696842	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	16q24.1	NR	rs2696842-?	NR	2E-6	(EA)	0.4964	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1243	chr16	86374207	86374208	rs2581305	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	16q24.1	LINC00917	rs2581305-?		4E-7		0.608	[NR] unit decrease	Illumina [5970354] (imputed)	N
1244	chr16	86381183	86381184	rs11641231	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	16q24.1	LOC401864, LOC283904, LOC729464	rs11641231-G	0.23	8E-6	(HDL, sum)			Illumina [~ 2500000] (imputed)	N
1244	chr16	86403117	86403118	rs9936833	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	16q24.1	FOXF1, LOC732275	rs9936833-C	0.37	3E-10		1.14	[1.10-1.19]	Illumina [521744]	N
1244	chr16	86434445	86434446	rs1728400	25526632	Rafiq S	2014-12-19	PLoS One	A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis.	Breast cancer (survival)	1,341 European ancestry cases	1,523 European ancestry cases	16q24.1	LOC732275, FOXF1	rs1728400-?	NR	6E-6		1.25	[1.13-1.39]	Illumina [6500000] (imputed)	N
1244	chr16	86437766	86437767	rs8045253	25108383	Geller F	2014-08-10	Nat Genet	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	Hypospadias	1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls	1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls	16q24.1	FOXF1-AS1	rs8045253-C	0.348	6E-7		1.19	[NR]	Illumina [8207076] (imputed)	N
1244	chr16	86463694	86463695	rs2178146	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Esophageal adenocarcinoma	1,516 European ancestry cases, 3,209 European ancestry controls	874 European ancestry cases, 6,911 European ancestry controls	16q24.1	FOXF1	rs2178146-A	0.587	4E-6		1.1765	[1.1-1.27]	Illumina [922031]	N
1244	chr16	86463694	86463695	rs2178146	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	16q24.1	FOXF1	rs2178146-A	0.587	1E-6		1.1364	[1.09-1.2]	Illumina [922031]	N
1244	chr16	86485130	86485131	rs11644988	23322567	Lopes MC	2013-01-15	Invest Ophthalmol Vis Sci	Identification of a candidate gene for astigmatism.	Corneal astigmatism	22,100 European ancestry individuals		16q24.1	FOXF1	rs11644988-G	0.12	2E-6		0.128	[NR] unit increase	Affymetrix, Illumina [2800000] (imputed)	N
1245	chr16	86511914	86511915	rs7187365	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	16q24.1	FOXF1	rs7187365-C	0.82	6E-6		1.22	[1.12-1.33]	Affymetrix [~ 2000000] (imputed)	N
1246	chr16	86680995	86680996	rs300032	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16q24.1	NR	rs300032-G	0.146304785746102	9E-8	(IGP63)	0.2433	[0.15-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
1246	chr16	86680995	86680996	rs300032	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	16q24.1	NR	rs300032-G	0.146183376056965	3E-7	(IGP67)	0.2336	[0.14-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
1246	chr16	86681030	86681031	rs1867485	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	16q24.1	FOXL1	rs1867485-G	0.395	3E-6	(BMR RQ)	0.04	[NR] unit increase	Illumina [899892]	N
1246	chr16	86695719	86695720	rs16941835	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	16q24.1	FOXL1	rs16941835-?	0.21	5E-8		1.16	[1.09-1.22]	Affymetrix, Illumina [~ 10000000] (imputed)	N
1246	chr16	86707768	86707769	rs7188801	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	16q24.1	FOXL1	rs7188801-G	0.80	8E-6	(VOS)	0.05	[0.03-0.07] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
1246	chr16	86710659	86710660	rs10048146	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	16q24.1	FOXL1	rs10048146-A	0.8	1E-14	(FNBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1246	chr16	86710659	86710660	rs10048146	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	16q24.1	FOXL1	rs10048146-G	0.19	2E-8		0.09	[0.06-0.12] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
1246	chr16	86710659	86710660	rs10048146	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	16q24.1	FOXL1	rs10048146-G	0.19	2E-7		0.09	[0.06-0.12] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
1246	chr16	86714714	86714715	rs71390846	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	16q24.1	FOXL1	rs71390846-?	NR	2E-6	(FNK)			Affymetrix, Illumina [5842825] (imputed)	N
1246	chr16	86714714	86714715	rs71390846	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	16q24.1	FOXL1	rs71390846-?	NR	2E-10	(hip)			Affymetrix, Illumina [5842825] (imputed)	N
1247	chr16	86827006	86827007	rs115958457	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	16q24.1	intergenic	rs115958457-A	0.001	1E-6		34.43	[3.56-333.11]	Illumina [1556551]	N
1249	chr16	87111629	87111630	rs12933233	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	16q24.2	intergenic	rs12933233-?	NR	8E-6		0.7869	unit increase	Illumina [2543888] (imputed)	N
1250	chr16	87193083	87193084	rs8061121	25138779	Mitchell LE	2014-08-18	Hum Mol Genet	Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.	Congenital left-sided heart lesions	284 European ancestry case-parent trios, up to 93 case-parent trios	216 European ancestry case-parent trios, 8 case-parent trios	16q24.2	AC136285.1	rs8061121-?	0.11	4E-9	(EA)	2.65	[1.89-3.71]	Illumina [1712604] (imputed)	N
1251	chr16	87364649	87364650	rs1062746	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	16q24.2	FBX031	rs1062746-?		2E-6	(Hispanic)	15.6	[NR]	Illumina [936149]	N
1252	chr16	87461968	87461969	rs9646303	22472876	Sullivan	2012-04-03	Mol Psychiatry	A mega-analysis of genome-wide association studies for major depressive disorder.	Major depressive disorder	9,240 European ancestry cases, 9,519 European ancestry controls	6,783 European ancestry cases, 50,695 European ancestry controls	16q24.2	MAP1LC3B, ZCCHC14, FBXO31	rs9646303-?	NR	5E-6				Affymetrix, Illumina, Perlegen [~ 1200000] (imputed)	N
1252	chr16	87489890	87489891	rs7194676	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16q24.2	NR	rs7194676-C	NR	2E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1253	chr16	87678575	87678576	rs34975147	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	16q24.2	NR	rs34975147-?	NR	5E-6				NR [up to 8466825] (imputed)	N
1255	chr16	87878821	87878822	rs8051149	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	16q24.2	SLC7A5	rs8051149-A	0.21	9E-26	(kynurenine)	0.026	[0.02-0.032] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1256	chr16	87991050	87991051	rs4843747	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	16q24.2	NR	rs4843747-?	NR	2E-7		0.39	[0.24-0.54] years increase	Illumina [315418]	N
1258	chr16	88298123	88298124	rs12447690	20719862	Vitart V	2010-08-18	Hum Mol Genet	New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.	Central corneal thickness	1,445 European ancestry individuals	5,882 European ancestry individuals	16q24.2	BANP, ZNF469	rs12447690-G	0.38	6E-22		0.16	[0.13-0.19] unit decrease	Illumina [~ 2000000] (imputed)	N
1258	chr16	88298123	88298124	rs12447690	20485516	Lu Y	2010-05-13	PLoS Genet	Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.	Central corneal thickness	3,473 European ancestry twins in 1,905 families, 301 European ancestry thin CCT cases, 301 European ancestry thick CCT controls	NA	16q24.2	ZNF469	rs12447690-C	NR	9E-11		0.16	[0.10-0.22] unit increase	Illumina [~ 2400000]	N
1258	chr16	88321435	88321436	rs6540223	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	16q24.2	ZNF469	rs6540223-T	0.6751	7E-8		0.0631	[0.04-0.086] unit increase	Illumina [2500000] (imputed)	N
1258	chr16	88331639	88331640	rs9938149	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	16q24.2	BANP, ZNF469	rs9938149-A	0.62	2E-49		0.17	[0.15-0.19] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
1258	chr16	88331639	88331640	rs9938149	22814818	Hoehn R	2012-07-20	Hum Genet	Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.	Central corneal thickness	3,931 European ancestry individuals	1,418 European ancestry individuals	16q24.2	ZNF469	rs9938149-A	0.62	1E-12		0.16	[0.12-0.20] SD increase	Affymetrix [NR] (imputed)	N
1260	chr16	88528779	88528780	rs904790	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Follicule stimulating hormone	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	16q24.2	NR		0.47	8E-6	(FSH)			Illumina [709211]	N
1260	chr16	88570133	88570134	rs12447718	26025128	Park HW	2015-05-27	J Allergy Clin Immunol	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.	Bone mineral accretion in asthma (oral corticosteroid dose interaction)	489 European ancestry children	NA	16q24.2	ZFPM1	rs12447718-?		4E-8				Illumina [NR]	N
1262	chr16	88773892	88773893	rs11641365	25534755	Chaste P	2014-09-30	Biol Psychiatry	A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?	Autism spectrum disorder-related traits	1633 European ancestry trios, 942 trios	NA	16q24.3	CTU2	rs11641365-?	NR	3E-7	(ADOS CSS RRB much higher than SA)	2.06	[1.54-2.76]	Illumina [up to 2017939]	N
1262	chr16	88777241	88777242	rs8052560	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	16q24.3	CTU2/GALNS	rs8052560-A	0.79	3E-8		0.029	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1262	chr16	88840461	88840462	rs10445033	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	16q24.3	FAM38A, PIEZO1	rs10445033-G	0.37	2E-22	(EA, MCHC)	0.02	[-0.00352-0.04352] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1262	chr16	88844931	88844932	rs9933309	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	16q24.3	CYBA	rs9933309-C	0.63	1E-8		0.07	[0.050-0.090] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
1262	chr16	88853728	88853729	rs837763	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin concentration	14,377 Japanese ancestry individuals	NA	16q24.3	CDT1	rs837763-C	0.38	4E-13		0.088	[0.064-0.112] unit increase	Illumina [561583]	N
1263	chr16	88929206	88929207	rs12921479	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	16q24.3	PABPN1L	rs12921479-?	0.343	9E-7		1.54	[NR]	Illumina [3922209] (imputed)	N
1263	chr16	88967436	88967437	rs533581	24133439	Jones RM	2013-10-11	Front Hum Neurosci	Genome-wide association study of autistic-like traits in a general population study of young adults.	Social autistic-like traits	965 European ancestry young adult individuals	NA	16q24.3	CBFA2T3	rs533581-C		8E-6		1.363	[0.77-1.96] unit increase	Illumina [2462046] (imputed)	N
1267	chr16	89448662	89448663	rs3096299	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		16q24.3	NR	rs3096299-G	0.45	4E-6	(t11;14 vs non t11;14)	1.54	[1.28-1.86]	Illumina [414804] (imputed)	N
1267	chr16	89471245	89471246	rs2086824	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		16q24.3	NR	rs2086824-A	0.51	2E-6	(t11;14 vs non t11;14)	1.58	[1.31-1.91]	Illumina [414804] (imputed)	N
1268	chr16	89609417	89609418	rs34753377	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16q24.3	NR	rs34753377-T	NR	9E-8		1.07	[NR]	Illumina [7158791] (imputed)	N
1269	chr16	89667336	89667337	rs154659	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	16q24.3	MC1R	rs154659-C	NR	7E-8		0.14	[0.08-0.20] tanning ability score increase	Illumina [528173]	N
1269	chr16	89708095	89708096	rs154657	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	16q24.3	DPEP1	rs154657-A	0.47	2E-43		0.0963	[0.083-0.11] unit increase	Affymetrix, Illumina [2090256] (imputed)	N
1269	chr16	89726034	89726035	rs154663	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	16q24.3	C16orf55	rs154663-T	0.29	9E-7		0.084	[0.051-0.117] unit increase	Affymetrix [1532051] (imputed)	N
1269	chr16	89736156	89736157	rs35063026	25705849	Jacobs LC	2015-02-23	J Invest Dermatol	A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.	Facial pigmentation	2,844 European ancestry individuals	NA	16q24.3	MC1R, C16orf55, SPATA33	rs35063026-T	0.07	9E-15		20.29	[15.59-24.99] unit increase	Illumina [6846125] (imputed)	N
1269	chr16	89741495	89741496	rs12443954	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	16q24.3	NR	rs12443954-A		1E-6	(Modelling analysis)	1.08	[1.04-1.11]	NR [1252901] (imputed)	N
1269	chr16	89754254	89754255	rs258324	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	16q24.3	CDK10	rs258324-T	0.27	4E-23		0.054	[0.04-0.068] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1269	chr16	89755902	89755903	rs258322	24980573	Song F	2014-06-30	Carcinogenesis	Identification of a melanoma susceptibility locus and somatic mutation in TET2.	Melanoma	494 European ancestry cases, 5,628 European ancestry controls	5,383 European ancestry cases, 13,033 European ancestry controls	16q24.3	MC1R	rs258322-A		2E-9		1.5	[1.31-1.71]	Affymetrix, Illumina [1579307] (imputed)	N
1269	chr16	89755902	89755903	rs258322	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	16q24.3	MC1R	rs258322-A	0.11	3E-27		1.7	[1.54-1.87]	Illumina [594997]	N
1269	chr16	89755902	89755903	rs258322	19578364	Bishop DT	2009-07-05	Nat Genet	Genome-wide association study identifies three loci associated with melanoma risk.	Melanoma	1,539 European ancestry cases, 3,917 European ancestry controls	2,312 European ancestry cases, 1,867 European ancestry controls	16q24.3	MC1R	rs258322-A	0.09	3E-27		1.67	[1.52-1.83]	Illumina [~ 317000]	N
1269	chr16	89755902	89755903	rs258322	18483556	Han J	2008-05-16	PLoS Genet	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Black vs. red hair color	2,287 European ancestry female individuals	8,465 European ancestry individuals	16q24.3	MC1R	rs258322-T	NR	2E-23		0.36	[0.28-0.44] hair color score increase	Illumina [528173]	N
1270	chr16	89818088	89818089	rs9926296	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	16q24.3	MC1R	rs9926296-A	0.54	2E-13		1.27	[NR]	Illumina [495821]	N
1270	chr16	89818731	89818732	rs12931267	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin sensitivity to sun	2,668 European ancestry individuals	NA	16q24.3	MC1R	rs12931267-G	0.091	8E-23		0.441	[0.5292-0.3528] unit decrease	Illumina [NR] (imputed)	N
1270	chr16	89818731	89818732	rs12931267	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	16q24.3	MC1R	rs12931267-G	0.08	5E-87	(red hair)	0.56	[NR] unit increase	Illumina [535076]	N
1270	chr16	89818731	89818732	rs12931267	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	16q24.3	MC1R	rs12931267-G	0.08	3E-10	(hair color)	0.56	[NR] unit decrease	Illumina [535076]	N
1270	chr16	89818731	89818732	rs12931267	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Freckling	9,126 European ancestry individuals	NA	16q24.3	MC1R	rs12931267-G	0.08	8E-62		1.88	[NR] unit increase	Illumina [535076]	N
1270	chr16	89851032	89851033	rs16966142	21490707	Cornelis MC	2011-04-07	PLoS Genet	Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.	Caffeine consumption	47,431 European ancestry individuals	NA	16q24.3	NR	rs16966142-T	0.08	6E-6		0.118	[0.07-0.17] mg/day increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1270	chr16	89859752	89859753	rs12921383	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	16q24.3	FANCA, DPEP1	rs12921383-T	0.87	8E-11		0.09	[0.063-0.117] unit decrease	Affymetrix, Illumina [2090256] (imputed)	N
1270	chr16	89872969	89872970	rs12449000	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	16q24.3	NR	rs12449000-T	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1271	chr16	89985843	89985844	rs1805005	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R-All	rs1805005-?,rs2228479-?,rs1110400-?,rs1805007-?,rs1805008-?,rs1805009-?	0.347	1E-13		0.008	[0.0060-0.0100] unit decrease	Illumina [11155022] (imputed)	N
1271	chr16	89985939	89985940	rs2228479	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R-All	rs1805005-?,rs2228479-?,rs1110400-?,rs1805007-?,rs1805008-?,rs1805009-?	0.347	1E-13		0.008	[0.0060-0.0100] unit decrease	Illumina [11155022] (imputed)	N
1271	chr16	89986116	89986117	rs1805007	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R-R	rs1805009-?,rs1805007-?,rs1805008-?	0.163	3E-16		0.011	[0.0090-0.0130] unit decrease	Illumina [11155022] (imputed)	N
1271	chr16	89986116	89986117	rs1805007	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R-All	rs1805005-?,rs2228479-?,rs1110400-?,rs1805007-?,rs1805008-?,rs1805009-?	0.347	1E-13		0.008	[0.0060-0.0100] unit decrease	Illumina [11155022] (imputed)	N
1271	chr16	89986116	89986117	rs1805007	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Perceived skin darkness	9,316 European ancestry individuals	5,278 European ancestry individuals	16q24.3	MC1R	rs1805007-T	0.0689772921290763	1E-6		0.085422546	[0.051-0.120] unit decrease	Illumina [up to 11155022] (imputed)	N
1271	chr16	89986116	89986117	rs1805007	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Tanning	9,678 European ancestry individuals		16q24.3	MC1R	rs1805007-C	NR	1E-65		0.39	[0.35-0.43] unit decrease	Affymetrix, Illumina [7588169] (imputed)	N
1271	chr16	89986116	89986117	rs1805007	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Sunburns	9,283 European ancestry individuals	4,236 European ancestry individuals	16q24.3	MC1R	rs1805007-C	NR	2E-19		1.66	[1.31-2.01] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
1271	chr16	89986116	89986117	rs1805007	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Non-melanoma skin cancer	6,747 European ancestry individuals	2,078 European ancestry individuals	16q24.3	MC1R	rs1805007-C	NR	3E-10		0.34	[0.24-0.44] unit increase	Affymetrix, Illumina [7588169] (imputed)	N
1271	chr16	89986116	89986117	rs1805007	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Hair color	7,070 European ancestry individuals	4,155 European ancestry individuals	16q24.3	MC1R	rs1805007-C	NR	3E-9		0.16	[0.10-0.22] unit decrease	Affymetrix, Illumina [7588169] (imputed)	N
1271	chr16	89986116	89986117	rs1805007	21700618	Nan H	2011-06-23	Hum Mol Genet	Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.	Basal cell carcinoma	2,045 European ancestry cases, 6,013 European ancestry controls	1,426 cases, 4,845 controls	16q24.3	MC1R	rs1805007-T	0.07	4E-17		1.55	[1.45-1.66]	Affymetrix, Illumina [2318094] (imputed)	N
1271	chr16	89986116	89986117	rs1805007	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Skin sensitivity to sun	2,986 individuals	3,932 individuals	16q24.3	MC1R	rs1805007-T	0.06	2E-55		2.94	[2.42-3.58]	Illumina [317511]	N
1271	chr16	89986116	89986117	rs1805007	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Red vs non-red hair color	2,986 individuals	3,932 individuals	16q24.3	MC1R	rs1805007-T	NR	2E-142		12.47	[9.37-16.60]	Illumina [317511]	N
1271	chr16	89986116	89986117	rs1805007	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Freckles	2,986 individuals	3,932 individuals	16q24.3	MC1R	rs1805007-T	0.05	1E-96		4.37	[3.56-5.37]	Illumina [317511]	N
1271	chr16	89986116	89986117	rs1805007	17952075	Sulem P	2007-10-21	Nat Genet	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Blond vs. brown hair color	2,986 European ancestry individuals	3,932 European ancestry individuals	16q24.3	MC1R	rs1805007-T	0.08	2E-13		2.34	[1.69-3.24]	Illumina [317511]	N
1271	chr16	89986129	89986130	rs1110400	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R-All	rs1805005-?,rs2228479-?,rs1110400-?,rs1805007-?,rs1805008-?,rs1805009-?	0.347	1E-13		0.008	[0.0060-0.0100] unit decrease	Illumina [11155022] (imputed)	N
1271	chr16	89986143	89986144	rs1805008	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R-R	rs1805009-?,rs1805007-?,rs1805008-?	0.163	3E-16		0.011	[0.0090-0.0130] unit decrease	Illumina [11155022] (imputed)	N
1271	chr16	89986143	89986144	rs1805008	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R-All	rs1805005-?,rs2228479-?,rs1110400-?,rs1805007-?,rs1805008-?,rs1805009-?	0.347	1E-13		0.008	[0.0060-0.0100] unit decrease	Illumina [11155022] (imputed)	N
1271	chr16	89986545	89986546	rs1805009	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R-R	rs1805009-?,rs1805007-?,rs1805008-?	0.163	3E-16		0.011	[0.0090-0.0130] unit decrease	Illumina [11155022] (imputed)	N
1271	chr16	89986545	89986546	rs1805009	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R-All	rs1805005-?,rs2228479-?,rs1110400-?,rs1805007-?,rs1805008-?,rs1805009-?	0.347	1E-13		0.008	[0.0060-0.0100] unit decrease	Illumina [11155022] (imputed)	N
1271	chr16	90022692	90022693	rs146972365	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Red vs non-red hair color	181 European ancestry red hair individuals, 6,910 European ancestry non-red hair individuals	NA	16q24.3	MC1R	rs146972365-?	0.947	1E-55		13.888889	[13.56-14.22]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1271	chr16	90022692	90022693	rs146972365	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Light vs. dark hair color	3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals	NA	16q24.3	MC1R	rs146972365-?	0.053	1E-11		1.8751	[1.69-2.06]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1271	chr16	90022692	90022693	rs146972365	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Brown vs. non-brown hair color	3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals	NA	16q24.3	MC1R	rs146972365-?	0.053	5E-10		1.7771	[1.60-1.96]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1271	chr16	90026511	90026512	rs4268748	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	16q24.3	MC1R	rs4268748-C	0.276933583745945	3E-15		0.008637669	[NR] unit decrease	Illumina [11155022] (imputed)	N
1272	chr16	90054708	90054709	rs8063160	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Red vs non-red hair color	181 European ancestry red hair individuals, 6,910 European ancestry non-red hair individuals	NA	16q24.3	MC1R	rs8063160-?	0.935	8E-50		12.99	[12.65-13.33]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1272	chr16	90054708	90054709	rs8063160	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Light vs. dark hair color	3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals	NA	16q24.3	MC1R	rs8063160-?	0.065	5E-14		1.8891	[1.72-2.05]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1272	chr16	90054708	90054709	rs8063160	26184321	Lin BD	2015-07-13	Genes	Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.	Brown vs. non-brown hair color	3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals	NA	16q24.3	MC1R	rs8063160-?	0.065	9E-12		1.7837	[1.62-1.95]	Affymetrix, Illumina, Perlegen [6473680] (imputed)	N
1272	chr16	90066935	90066936	rs4785763	19578364	Bishop DT	2009-07-05	Nat Genet	Genome-wide association study identifies three loci associated with melanoma risk.	Melanoma	1,539 European ancestry cases, 3,917 European ancestry controls	2,312 European ancestry cases, 1,867 European ancestry controls	16q24.3	MC1R	rs4785763-A	0.32	6E-22		1.36	[1.28-1.45]	Illumina [~ 317000]	N
1272	chr16	90084560	90084561	rs11648785	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	16q24.3	MC1R	rs11648785-T	NR	3E-9		0.14	[0.10-0.18] tanning ability score decrease	Illumina [528173]	N
585	chr17	38923	38924	rs7217319	21502085	Troyer JL	2011-05-01	J Infect Dis	Genome-wide association study implicates PARD3B-based AIDS restriction.	AIDS progression	755 European ancestry seroconverter cases	NA	17p13.3	RPH3AL	rs7217319-?	0.63	4E-6		1.48	[NR]	Affymetrix [700022]	N
589	chr17	618964	618965	rs684232	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	17p13.3	DBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53	rs684232-G	0.36	5E-15		1.1	[1.07-1.14]	Illumina [~ 2600000] (imputed)	N
590	chr17	700019	700020	rs623323	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	17p13.3	NXN	rs623323-T	0.15	4E-6	(Punjabi Sikhs)	1.28	[1.15 - 1.42]	Illumina [1232008] (imputed)	N
590	chr17	775050	775051	rs747685	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	17p13.3	NXN	rs747685-T	0.86	6E-7	(EA, MAP, Age 60-69)	1.5	[0.91-2.09] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
590	chr17	775333	775334	rs747687	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	17p13.3	NXN	rs747687-G	0.86	2E-7	(EA, DBP, Age 60-69)	1.37	[0.86-1.88] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
591	chr17	800592	800593	rs12603526	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	17p13.3	NXN	rs12603526-C	0.3	3E-8	(East Asian)	1.1	[1.06-1.14]	Affymetrix, Illumina [2400000] (imputed)	N
591	chr17	831666	831667	rs2360111	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	17p13.3	NXN	rs2360111-T	NR	3E-6	(Economic policy)	0.113	[0.066-0.16] unit decrease	Illumina [628922]	N
594	chr17	1297990	1297991	rs9908552	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17p13.3	NR	rs9908552-T	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
597	chr17	1618362	1618363	rs11078597	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	17p13.3	SERPINF2, WDR81	rs11078597-C	0.18	7E-13	(EA)	0.0205	[0.015-0.026] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
597	chr17	1618362	1618363	rs11078597	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	17p13.3	SERPINF2, WDR81	rs11078597-C	0.18	1E-14		0.0204	[0.015-0.026] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
597	chr17	1634103	1634104	rs12150338	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	17p13.3	SERPINF2, WDR81	rs12150338-T	0.09	2E-6		0.03	[0.018-0.042] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
597	chr17	1634103	1634104	rs12150338	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	17p13.3	PRPF8, MGC14376, SMYD4, SERPINF2, SERPINF1, WDR81	rs12150338-T	NR	7E-7		0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
598	chr17	1794207	1794208	rs3826538	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Airway imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	17p13.3	RPA1	rs3826538-T	NR	2E-6	(WAP, All)	0.35	[0.21-0.49] unit decrease	Illumina [7600000] (imputed)	N
599	chr17	1941047	1941048	rs12451788	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	17p13.3	DPH1, RTN4RL1, OVCA2	rs12451788-G	0.407	1E-6		0.0		Illumina [1556551]	N
600	chr17	2005135	2005136	rs9914578	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17p13.3	SMG6	rs9914578-G	0.229	2E-8		0.02	[0.013-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
600	chr17	2005135	2005136	rs9914578	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17p13.3	SMG6	rs9914578-G	0.212	8E-8	(EA, men)	0.026	[0.017-0.036] kg/m2 increase	Affymetrix, Illumina [2550021]	N
600	chr17	2005135	2005136	rs9914578	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17p13.3	SMG6	rs9914578-G	0.211	9E-8	(EA)	0.02	[0.013-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
600	chr17	2010317	2010318	rs2019872	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17p13.3	NR	rs2019872-C	NR	7E-6		1.0752687	[NR]	Illumina [7158791] (imputed)	N
600	chr17	2068931	2068932	rs4790881	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	17p13.3	SMG6	rs4790881-A	0.69	1E-18	(FNBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
601	chr17	2117944	2117945	rs2281727	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	17p13.3	SMG6	rs2281727-G	NR	1E-7		1.07	[1.04-1.10]	Illumina [575000] (imputed)	N
601	chr17	2125604	2125605	rs1231206	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	17p13.3	intergenic	rs1231206-A	0.37	9E-10		1.07	[1.05-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
601	chr17	2126503	2126504	rs216172	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	17p13.3	SMG6, SRR	rs216172-C	0.37	1E-9		1.07	[1.05-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
601	chr17	2143459	2143460	rs10852932	19584346	Vasan RS	2009-07-08	JAMA	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	Aortic root size	12,612 European ancestry individuals	4,094 European ancestry individuals	17p13.3	SMG6, SRR, TSR1, SGSM2	rs10852932-T	0.36	2E-11		0.03	[0.02-0.04] cm increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
601	chr17	2145192	2145193	rs11078884	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA)	up to 398 European ancestry individuals	NA	17p13.3	SMG6, SRR, AJ276246	rs11078884-C	NR	3E-6		0.2234	unit increase	Illumina [5767231] (imputed)	N
601	chr17	2171636	2171637	rs17761864	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer (squamous cell)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	17p13.3	SMG6	rs17761864-A	0.14	2E-11		1.21	[1.14-1.28]	NR [NR]	N
601	chr17	2196149	2196150	rs216205	26301497	Dina C	2015-08-24	Nat Genet	Genetic association analyses highlight biological pathways underlying mitral valve prolapse.	Mitral valve prolapse	1,442 European ancestry cases, 2,439 European ancestry controls	1,422 European ancestry cases, 6,779 European ancestry controls	17p13.3	SMG6	rs216205-T	0.74	2E-8		1.24	[1.15-1.33]	Affymetrix, Illumina [~ 4800000] (imputed)	N
601	chr17	2208898	2208899	rs4523957	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17p13.3	NR	rs4523957-T	NR	1E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
601	chr17	2208898	2208899	rs4523957	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	17p13.3	SGSM2, SMG6, SRR, TSR1	rs4523957-T	0.627	3E-10		1.071	[1.049-1.094]	Affymetrix, Illumina [9005918] (imputed)	N
601	chr17	2208898	2208899	rs4523957	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	17p13.3	intergenic	rs4523957-T	0.616	6E-8		1.083	[1.05-1.11]	Affymetrix, Illumina [9871789]	N
601	chr17	2216257	2216258	rs391300	20174558	Tsai FJ	2010-02-19	PLoS Genet	A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.	Type 2 diabetes	995 Han Chinese ancestry cases, 894 Han Chinese ancestry controls	1,803 Han Chinese ancestry cases, 1,473 Han Chinese ancestry controls	17p13.3	SRR	rs391300-G	0.62	3E-9		1.28	[1.18-1.39]	Illumina [516737]	N
602	chr17	2262702	2262703	rs4790333	21873549	Strawbridge RJ	2011-08-26	Diabetes	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.	Proinsulin levels	10,701 European ancestry individuals	16,378 European ancestry individuals	17p13.3	SGSM2	rs4790333-T	0.45	3E-9				Affymetrix, Illumina [~ 2500000] (imputed)	N
603	chr17	2428507	2428508	rs9891572	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	HDL cholesterol	4,763 Northern Finnish founder individuals	NA	17p13.3	intergenic	rs9891572-A	0.16	2E-7		0.05	[0.048-0.051] mmol/l increase	Illumina [329091]	N
606	chr17	2771511	2771512	rs12603284	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	17p13.3	GARNL4	rs12603284-?	0.08	3E-6	(Recessive)	1.89	[1.45-2.47]	Affymetrix [319222]	N
606	chr17	2785894	2785895	rs59403466	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	17p13.3	RAP1GAP2	rs59403466-?	NR	6E-7				Affymetrix [5486770] (imputed)	N
606	chr17	2827957	2827958	rs9902403	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	17p13.3	RAP1GAP2	rs9902403-?	NR	9E-6	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
607	chr17	2938532	2938533	rs9895098	24824216	Myers RA	2014-05-13	Hum Mol Genet	Genome-wide interaction studies reveal sex-specific asthma risk alleles.	Asthma (sex interaction)	1,052 European ancestry male cases, 1,019 European ancestry female cases, 709 European ancestry male controls, 826 European ancestry female controls, 675 African American/African Caribbean male cases, 837 African American/African Caribbean female cases, 577 African American/African Caribbean male controls, 926 African American/African Caribbean female controls, 926 Latino male cases, 710 Latino female cases, 410 Latino male controls, 382 Latino female controls	NA	17p13.3	RAP1GAP2	rs9895098-C	0.10	3E-7	(Latino, female)	2.31	[1.90-2.80]	Affymetrix, Illumina [~ 2100000] (imputed)	N
608	chr17	3029553	3029554	rs12449465	23472165	Albertsen HM	2013-03-05	PLoS One	Genome-wide association study link novel loci to endometriosis.	Endometriosis	1,514 European ancestry casses, 12,660 European ancestry controls	505 European ancestry cases, 1,811 European ancestry controls	17p13.3	OR1D2, OR1G1	rs12449465-G	0.125	1E-6		1.26	[NR]	Illumina [580699]	N
609	chr17	3188011	3188012	rs2005290	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	17p13.3	OR3A1, OR3A2	rs2005290-?	NR	4E-7				Illumina [37426733] (imputed)	N
609	chr17	3188011	3188012	rs2005290	23958962	Gelernter J	2013-08-20	Mol Psychiatry	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Cocaine dependence	1,809 European ancestry cases, 570 European ancestry controls, 2,482 African American cases, 836 African American controls	4,498 European ancestry individuals, 2,114 African American individuals	17p13.3	OR3A1, OR3A2	rs2005290-?	NR	2E-6	(EA)			Illumina [37426733] (imputed)	N
610	chr17	3393067	3393068	rs923375	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		17p13.2	ASPA	rs923375-?	0.188	4E-16			[NR]	Affymetrix, Illumina [152234]	N
612	chr17	3664974	3664975	rs220470	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	17p13.2	ITGAE	rs220470-?	NR	1E-7				Affymetrix [504219]	N
613	chr17	3786906	3786907	rs758642	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	17p13.2	CAMKK1	rs758642-?	0.34	7E-6	(CPD)	0.08	[NR] cigarettes per day increase	Illumina [~ 518000]	N
614	chr17	3865398	3865399	rs1006703	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	17p13.2	ATP2A3	rs1006703-?	NR	3E-6	(AIRg)	2.13	[1.01-3.25] unit increase	Illumina [693128]	N
615	chr17	3950223	3950224	rs781856	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	17p13.2	ZZEF1	rs781856-?		7E-6	(MCRI)	0.94	[0.45-1.43] unit increase	Illumina [693128]	N
615	chr17	4007593	4007594	rs7221595	24039173	McGrath LM	2013-09-13	Am J Med Genet B Neuropsychiatr Genet	Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia.	Functional impairment in major depressive disorder, bipolar disorder and schizophrenia	2,246 European ancestry individuals	NA	17p13.2	ZZEF1, CYB5D2, ANKFY1	rs7221595-?	NR	5E-6	(PCS)			Affymetrix [1633452] (imputed)	N
618	chr17	4393497	4393498	rs333119	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17p13.2	SPNS3	rs333119-A	0.0070	6E-6	(MCP1 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
620	chr17	4667983	4667984	rs193042029	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	17p13.2	TM4SF5	rs193042029-G	0.01	8E-9		0.17	[0.11-0.23] s.d. decrease	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
620	chr17	4683034	4683035	rs12051548	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	17p13.2	GLTPD2, TM4SF5, VM01	rs12051548-?	0.06	1E-11				Illumina [~ 2000000] (imputed)	N
620	chr17	4683034	4683035	rs12051548	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	17p13.2	PLD2	rs12051548-?	NR	1E-9	(levels)	0.0	[0.70-0.90] % increase	Illumina [NR] (imputed)	N
621	chr17	4824624	4824625	rs12602901	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17p13.2	RNF167	rs12602901-C	0.17	1E-26	(X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide)	0.037	[0.031-0.043] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
621	chr17	4836380	4836381	rs6065	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	17p13.2	GP1BA	rs6065-T	NR	3E-11		4.191	[2.96-5.43] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
621	chr17	4836380	4836381	rs6065	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Platelet count	14,806 Japanese ancestry individuals	NA	17p13.2	GP1BA	rs6065-T	0.12	2E-12		0.124	[0.089-0.159] unit increase	Illumina [561583]	N
622	chr17	4901981	4901982	rs11658587	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17p13.2	INCA1	rs11658587-A	0.024	6E-6	(Sleep duration )	0.03	[NR] min/d increase	Illumina [899892]	N
624	chr17	5137046	5137047	rs7225151	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	17p13.2	SCIMP	rs7225151-A	0.121	4E-7		1.1	[1.06-1.15]	Illumina [7055881] (imputed)	N
625	chr17	5272579	5272580	rs72634030	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	17p13.2	C1QBP	rs72634030-A	0.23	2E-9		1.12	[1.08-1.17]	Affymetrix, Illumina [up to 9739303] (imputed)	N
625	chr17	5283251	5283252	rs1000940	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17p13.2	RABEP1	rs1000940-G	0.321	2E-6	(EA, women)	0.02	[0.012-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
625	chr17	5283251	5283252	rs1000940	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17p13.2	RABEP1	rs1000940-G	0.32	2E-8		0.018	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
625	chr17	5283251	5283252	rs1000940	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17p13.2	RABEP1	rs1000940-G	0.32	1E-8	(EA)	0.019	[0.013-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
626	chr17	5393088	5393089	rs1805465	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	17p13.2	DERL2	rs1805465-T		6E-6		2.339		Affymetrix [NR]	N
630	chr17	5907442	5907443	rs9303196	20876614	Yoon KA	2010-09-28	Hum Mol Genet	A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population.	Non-small cell lung cancer	621 Korean ancestry cases, 1,541 Korean ancestry controls	804 Korean ancestry cases, 1,470 Korean ancestry controls	17p13.2	NR	rs9303196-T	0.07	8E-6		1.43	[1.14-1.82]	Affymetrix [246758]	N
631	chr17	6034830	6034831	rs7215990	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	17p13.2	WSCD1, ALOX15B	rs7215990-G	0.76	2E-8		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
631	chr17	6093950	6093951	rs3744728	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	17p13.2	WSC domain containing 1	rs3744728-C	NR	3E-6		1.51	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
631	chr17	6141676	6141677	rs7503953	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	17p13.2	WSCD1	rs7503953-A	0.171	2E-7		1.5	[1.29-1.76]	Illumina [287802]	N
632	chr17	6250053	6250054	rs79392787	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	17p13.2	intergenic	rs79392787-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
632	chr17	6282470	6282471	rs73976923	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	17p13.2	intergenic	rs73976923-A	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
633	chr17	6326744	6326745	rs3892315	26015512	Komatsu M	2015-05-26	Clin Cancer Res	Pharmacoethnicity in Paclitaxel-Induced Sensory Peripheral Neuropathy.	Paclitaxel-induced cytotoxicity	57 Japanese ancestry lymphoblastoid cell lines, 59 Han Chinese ancestry lymphoblastoid cell lines	77 European ancestry lymphoblastoid cell lines, 87 Yoruban ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines	17p13.2	AIPL1	rs3892315-?	NR	9E-7		0.207	[NR] unit increase	NR [~ 4600000] (imputed)	N
635	chr17	6595929	6595930	rs170149	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17p13.1	SLC13A5	rs170149-A	0.07	1E-13	(citrate)	0.026	[0.018-0.034] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
635	chr17	6607017	6607018	rs218676	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	17p13.1	SLC13A5	rs218676-G	NR	5E-6		0.149	[0.084-0.214] unit increase	Illumina [628922]	N
635	chr17	6683877	6683878	rs1509123	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17p13.1	SLC13A5	rs1509123-T	0.05	5E-9	(citrate)	0.025	[0.017-0.033] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
636	chr17	6781412	6781413	rs58630086	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	17p13.1	NR	rs58630086-?	NR	6E-7				NR [up to 8466825] (imputed)	N
637	chr17	6915400	6915401	rs2271316	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17p13.1	ALOX12	rs2271316-C	0.38	2E-23	(X-12441--12-hydroxyeicosatetraenoate (12-HETE))	0.113	[0.091-0.135] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
637	chr17	6940392	6940393	rs312457	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	17p13.1	SLC16A13	rs312457-G	0.078	8E-13		1.2	[1.14-1.26]	Illumina [6209637] (imputed)	N
637	chr17	6945086	6945087	rs75493593	24390345	Williams AL	2013-12-25	Nature	Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.	Type 2 diabetes	3,848 Mexican and other Latin American ancestry cases, 4,366 Mexican and other Latin American ancestry controls	896 Mexican American cases, 832 Mexican American controls, 2,768 East Asian ancestry cases, 2,880 East Asian ancestry controls, 1,082 South Asian ancestry cases, 1,105 South Asian ancestry controls, 1,874 European ancestry cases, 1,333 European ancestry controls, 2,127 African American cases, 2,103 African American controls, 698 Native Hawaiian ancestry cases, 579 Native Hawaiian ancestry controls, 2,009 Singaporean ancestry cases, 1959 Singaporean ancestry controls	17p13.1	SLC16A13, SLC16A11	rs75493593-?	NR	5E-15		1.25	[1.18-1.32]	Illumina [9200000] (imputed)	N
639	chr17	7080315	7080316	rs55714927	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	17p13.1	DLG4	rs55714927-C	0.78	9E-12		0.058	[0.04-0.076] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
639	chr17	7080315	7080316	rs55714927	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	17p13.1	DLG4	rs55714927-C	0.78	7E-12		0.057	[0.041-0.073] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
639	chr17	7091649	7091650	rs314253	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	17p13.1	DLG4	rs314253-C	0.37	3E-10		0.024	[NR] unit decrease	NR [NR] (imputed)	N
639	chr17	7091649	7091650	rs314253	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	17p13.1	DLG4	rs314253-C	0.37	3E-10		0.023	[NR] unit decrease	NR [NR] (imputed)	N
639	chr17	7091649	7091650	rs314253	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	17p13.1	ASGR1, DLG4	rs314253-C	0.33	8E-12		2.1	[1.50-2.80] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
639	chr17	7118321	7118322	rs507506	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	17p13.1	NR	rs507506-G	NR	2E-6		0.022	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
639	chr17	7142850	7142851	rs117616209	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	17p13.1	SLC2A4	rs117616209-?	NR	3E-14	(Fischer's ratio)	0.51	[0.37-0.65] unit decrease	Illumina [~ 7700000] (imputed)	N
639	chr17	7184480	7184481	rs5415	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	17p13.1	SLC2A4	rs5415-T	0.31	5E-6		0.034	[0.020-0.048] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
641	chr17	7363087	7363088	rs9217	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17p13.1	ZBTB4	rs9217-T	0.63	5E-20		0.028	[0.022-0.034] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
641	chr17	7417662	7417663	rs6761	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	17p13.1	SHBG	rs6761-?	0.31	3E-7	(SHBG)			Illumina [496032]	N
641	chr17	7462554	7462555	rs11552708	23118916	Yang M	2012-10-31	PLoS One	Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population.	IgM levels	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	17p13.1	TNFSF13	rs11552708-G	0.7573	4E-9				Illumina [1940243] (imputed)	N
641	chr17	7462968	7462969	rs3803800	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	17p13.1	TNFSF13	rs3803800-A	0.2	9E-6		1.12	[NR]	Illumina [> 1000000] (imputed)	N
641	chr17	7462968	7462969	rs3803800	22864923	Yang C	2012-08-03	Immunogenetics	Genome-wide association study identifies TNFSF13 as a susceptibility gene for IgA in a South Chinese population in smokers.	IgA levels	1,999 Han Chinese ancestry male individuals	1,496 East Asian ancestry male individuals	17p13.1	TNFSF13	rs3803800-?	NR	3E-7				Illumina [1940243] (imputed)	N
641	chr17	7462968	7462969	rs3803800	22558069	Osman W	2012-04-27	PLoS One	Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.	Non-albumin protein levels	Up to 9,103 Japanese ancestry individuals	Up to 1,629 Japanese ancestry individuals	17p13.1	TNFSF13	rs3803800-A	0.311	7E-15	(NAP)	0.104	[0.079-0.129] unit increase	Illumina [2178644] (imputed)	N
641	chr17	7462968	7462969	rs3803800	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	17p13.1	TNFSF13	rs3803800-A	0.35	9E-11		1.21	[1.14-1.28]	Illumina [444882]	N
641	chr17	7469228	7469229	rs11078697	23118916	Yang M	2012-10-31	PLoS One	Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population.	IgM levels	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	17p13.1	SENP3	rs11078697-C	0.83	4E-7				Illumina [1940243] (imputed)	N
642	chr17	7484811	7484812	rs9901675	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17p13.1	SHBG	rs9901675-A	0.05	1E-7	(Men + Women, Conditional)	0.057	[0.037-0.077] unit decrease	Affymetrix, Illumina [2543887] (imputed)	N
642	chr17	7487107	7487108	rs2075230	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Hormone measurements	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	17p13.1	SHBG	rs2075230-G	0.29	5E-19	(SHBG)	0.09	[0.070-0.110] unit decrease	Illumina [709211]	N
642	chr17	7487107	7487108	rs2075230	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Hormone measurements	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	17p13.1	SHBG	rs2075230-G	0.29	1E-8	(Testosterone)	0.28	[0.18-0.38] unit decrease	Illumina [709211]	N
642	chr17	7491176	7491177	rs4227	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	17p13.1	TNFSF13	rs4227-G	0.225	2E-6		1.298	[1.188-1.418]	Illumina [3792949] (imputed)	N
642	chr17	7491176	7491177	rs4227	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	17p13.1	MPDU1	rs4227-G	0.21	4E-10		1.23	[1.16-1.32]	Illumina [444882]	N
642	chr17	7512073	7512074	rs11653545	23118916	Yang M	2012-10-31	PLoS One	Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population.	IgM levels	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	17p13.1	FXR2	rs11653545-G	0.83	2E-7				Illumina [1940243] (imputed)	N
642	chr17	7521914	7521915	rs12150660	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17p13.1	SHBG	rs12150660-T	0.24	6E-30	(Women)	0.086	[0.071-0.101] umol/L increase	Affymetrix, Illumina [2543887] (imputed)	N
642	chr17	7521914	7521915	rs12150660	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17p13.1	SHBG	rs12150660-T	0.24	4E-80	(Men)	0.11	[0.099-0.121] umol/L increase	Affymetrix, Illumina [2543887] (imputed)	N
642	chr17	7521914	7521915	rs12150660	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17p13.1	SHBG	rs12150660-T	0.24	2E-55	(Men + Women, Conditional)	0.082	[0.072-0.092] unit increase	Affymetrix, Illumina [2543887] (imputed)	N
642	chr17	7521914	7521915	rs12150660	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17p13.1	SHBG	rs12150660-T	0.24	2E-106	(Men + Women)	0.103	[0.094-0.112] umol/L increase	Affymetrix, Illumina [2543887] (imputed)	N
642	chr17	7521914	7521915	rs12150660	21998597	Ohlsson C	2011-10-06	PLoS Genet	Genetic determinants of serum testosterone concentrations in men.	Testosterone levels	8,938 European ancestry male individuals	5,491 European ancestry male individuals	17p13.1	SHBG	rs12150660-T	0.23	1E-41	(Testosterone)	31.8	[27.29-36.31] ng/dl increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
642	chr17	7534677	7534678	rs6258	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17p13.1	SHBG	rs6258-T	0.02	3E-46	(Men + Women, Conditional)	0.272	[0.24-0.31] unit decrease	Affymetrix, Illumina [2543887] (imputed)	N
642	chr17	7534677	7534678	rs6258	21998597	Ohlsson C	2011-10-06	PLoS Genet	Genetic determinants of serum testosterone concentrations in men.	Testosterone levels	8,938 European ancestry male individuals	5,491 European ancestry male individuals	17p13.1	SHBG	rs6258-T	0.02	2E-22	(Testosterone)	82.3	[65.64-98.96] ng/dl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
642	chr17	7537791	7537792	rs727428	22936694	Jin G	2012-08-30	Hum Mol Genet	Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.	Androgen levels	3,225 European ancestry male individuals	NA	17p13.1	SHBG	rs727428-T	0.414	1E-12	(serum testosterone)	0.073	[0.053-0.093] unit decrease	Illumina [642461]	N
642	chr17	7537791	7537792	rs727428	22936694	Jin G	2012-08-30	Hum Mol Genet	Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.	Androgen levels	3,225 European ancestry male individuals	NA	17p13.1	SHBG	rs727428-T	0.414	1E-11	(DHT levels)	0.103	[0.074-0.132] unit decrease	Illumina [642461]	N
642	chr17	7537791	7537792	rs727428	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Sex hormone-binding globulin levels	1,598 European ancestry female individuals	NA	17p13.1	FXR2, SHBG, SAT2, ATP1B2	rs727428-T	0.42	2E-16		0.126	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
642	chr17	7545720	7545721	rs1641537	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17p13.1	SHBG	rs1641537-T	0.14	1E-24	(Men + Women, Conditional)	0.064	[0.052-0.076] unit decrease	Affymetrix, Illumina [2543887] (imputed)	N
642	chr17	7552122	7552123	rs72829446	22936694	Jin G	2012-08-30	Hum Mol Genet	Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.	Androgen levels	3,225 European ancestry male individuals	NA	17p13.1	SHBG	rs72829446-T	0.101	9E-10	(DHT levels)	0.164	[0.11-0.22] unit increase	Illumina [642461]	N
642	chr17	7552122	7552123	rs72829446	22936694	Jin G	2012-08-30	Hum Mol Genet	Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.	Androgen levels	3,225 European ancestry male individuals	NA	17p13.1	SHBG	rs72829446-T	0.101	6E-8	(serum testosterone)	0.099	[0.064-0.134] unit increase	Illumina [642461]	N
642	chr17	7557833	7557834	rs1642764	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	17p13.1	TP53, ATP1B2	rs1642764-C	0.501	3E-13		1.14	[1.1-1.18]	Affymetrix, Illumina [7556215] (imputed)	N
642	chr17	7571751	7571752	rs78378222	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	17p13.1	TP53	rs78378222-G	0.018	1E-20		2.07	[NR]	Illumina [24988228] (imputed)	N
642	chr17	7571751	7571752	rs78378222	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	17p13.1	TP53	rs78378222-G		4E-22		2.24	[1.90-2.64]	Illumina [38500000] (imputed)	N
642	chr17	7571751	7571752	rs78378222	21946351	Stacey SN	2011-09-25	Nat Genet	A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.	Basal cell carcinoma	2,121 European ancestry cases, 39,614 European ancestry controls	2,506 European and other ancestry cases, 15,101 European and other ancestry controls	17p13.1	TP53	rs78378222-C	NR	2E-20		2.16	[1.83-2.54]	Illumina [~ 16000000] (imputed)	N
642	chr17	7574774	7574775	rs1641549	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	17p13.1	SHBG, TP53	rs1641549-T	0.239	1E-15	(SHBG)	0.127	[NR] unit decrease	Illumina [7879351] (imputed)	N
642	chr17	7578114	7578115	rs1625895	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17p13.1	SHBG	rs1625895-T	0.12	2E-21	(Men + Women, Conditional)	0.12	[0.11-0.13] unit decrease	Affymetrix, Illumina [2543887] (imputed)	N
643	chr17	7633691	7633692	rs16956936	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	17p13.1	intergenic	rs16956936-?	0.86	5E-7		1.09	[1.00-1.19]	Affymetrix, Illumina [841622] (imputed)	N
644	chr17	7758521	7758522	rs2270518	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	17p13.1	KDM6B	rs2270518-T	0.19	8E-10		0.033	[0.017-0.049] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
644	chr17	7811614	7811615	rs9899375	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	17p13.1	CHD3	rs9899375-T	0.03	1E-8	(cohort study)	2.57	[1.86-3.55]	Affymetrix, Illumina [up to 2600000] (imputed)	N
644	chr17	7811614	7811615	rs9899375	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Ischemic stroke	up to 1,365 African American cases, up to 13,154 African American controls	European ancestry individuals (see Traylor, 2012)	17p13.1	CHD3	rs9899375-T	0.03	5E-9	(cohort study, AA)	3.3	[2.21-4.93]	Affymetrix, Illumina [~ 2600000] (imputed)	N
646	chr17	8031935	8031936	rs8067165	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17p13.1	HES7	rs8067165-C	0.403	7E-12		0.023	[0.017-0.029] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
647	chr17	8130866	8130867	rs3027247	22658654	Chung SJ	2012-05-30	Parkinsonism Relat Disord	Genomic determinants of motor and cognitive outcomes in Parkinson's disease.	Parkinson's disease (motor and cognition)	443 European ancestry cases	NA	17p13.1	C17orf68	rs3027247-?	NR	9E-6	(cognitive outcome)	1.89	[1.41-2.50]	NR [198345]	N
647	chr17	8136091	8136092	rs3027234	23001564	Mangino M	2012-09-25	Hum Mol Genet	Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.	Telomere length	9,190 European ancestry individuals	2,226 individuals	17p13.1	CTC1	rs3027234-T	0.1794	2E-8		0.0573	[0.036-0.079] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
652	chr17	8788750	8788751	rs114619297	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	17p13.1	NR	rs114619297-?	NR	5E-6	(EA)	1.3777	[0.79-1.96] unit decrease	Illumina [up to 11892802] (imputed)	N
653	chr17	8932118	8932119	rs4791774	25775280	Sun Y	2015-03-16	Nat Commun	Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.	Nonsyndromic cleft lip with or without cleft palate	858 Chinese ancestry cases, 1,248 Chinese ancestry controls	1,663 Chinese ancestry cases,  1,874 Chinese ancestry controls	17p13.1	NTN1	rs4791774-G	NR	5E-19		1.56	[1.42-1.72]	Affymetrix [842556]	N
653	chr17	8943928	8943929	rs8076457	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	17p13.1	NR	rs8076457-?	NR	2E-7	(Meta-ALL, NSCL/P)			NR [497084]	N
653	chr17	8967066	8967067	rs12449664	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	17p13.1	NTN1	rs12449664A	NR	1E-6	(Cases)	0.15	[0.091-0.209] unit increase	Illumina [6900000] (imputed)	N
654	chr17	9075743	9075744	rs144460277	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	17p13.1	NR	rs144460277-?	NR	6E-7	(Native Hawaiian)	1.2032	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
654	chr17	9090223	9090224	rs3785982	23319801	Rafiq S	2013-01-14	Cancer Res	Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.	Breast cancer (prognosis)	536 European ancestry early-onset cases	1,516 European ancestry early-onset cases	17p13.1	NTN1	rs3785982-?	0.12	8E-6		1.4	[1.21-1.62]	Illumina [487496]	N
660	chr17	9875204	9875205	rs3786094	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)	218 Japanese ancestry cases, 364 Japanese controls	NA	17p13.1	GAS7	rs3786094-C	0.422	6E-6	(Recessive model)	1.531	[1.206-1.944]	Illumina [733202]	N
661	chr17	10031089	10031090	rs12150284	24002674	Ozel AB	2013-09-04	Hum Genet	Genome-wide association study and meta-analysis of intraocular pressure.	Intraocular pressure	2,847 European ancestry primary open angle glaucoma cases, 3,389 European ancestry controls	NA	17p13.1	GAS7	rs12150284-A	0.35	2E-6		0.62	[0.33-0.91] mmHg decrease	Illumina [466573]	N
661	chr17	10031182	10031183	rs9913911	25173106	Hysi PG	2014-08-31	Nat Genet	Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.	Intraocular pressure	7,738 Asian ancestry individuals, 27,558 European ancestry individuals	NA	17p13.1	GAS7	rs9913911-G	NR	1E-11		0.179	[0.13-0.23] mm Hg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
661	chr17	10033678	10033679	rs11656696	22570627	van Koolwijk LM	2012-05-03	PLoS Genet	Common genetic determinants of intraocular pressure and primary open-angle glaucoma.	Intraocular pressure	11,972 European ancestry individuals	7,482 European ancestry individuals	17p13.1	GAS7	rs11656696-A	0.43	1E-8		0.19	[0.12-0.26] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
662	chr17	10112157	10112158	rs28452431	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	17p13.1	NR	rs28452431-?	NR	7E-6	(AA)	0.352	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
665	chr17	10567482	10567483	rs169313	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	17p13.1	MAGOH2, TMEM220, MYH3, C17orf48, SCO1	rs169313-?	0.44	8E-6		0.25	[0.14-0.36] unit increase	Illumina [2095209]	N
665	chr17	10574158	10574159	rs6503319	19465909	Jallow M	2009-05-24	Nat Genet	Genome-wide and fine-resolution association analysis of malaria in West Africa.	Malaria	958 Gambian ancestry cases, 1,382 Gambian ancestry controls	1,087 Gambian ancestry cases, 2,376 Gambian ancestry controls	17p13.1	SCO1	rs6503319-T	0.45	7E-7		1.21	[1.12-1.31]	Affymetrix [402814]	N
669	chr17	11100664	11100665	rs8076220	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17p12	SHISA6, FLJ45455	rs8076220-G	0.074	2E-6	(Urinary creatinine )	0.04	[NR] mmol/d increase	Illumina [899892]	N
670	chr17	11163191	11163192	rs2159292	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17p12	NR	rs2159292-C	NR	2E-6		1.098901	[NR]	Illumina [7158791] (imputed)	N
670	chr17	11250218	11250219	rs8076431	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17p12	NR	rs8076431-C	0.851273368210151	2E-6	(IGP26)	0.2132	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
671	chr17	11342607	11342608	rs1877644	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17p12	SHISA6	rs1877644-A	0.269	2E-6	(QUICKl)	0.03	[NR] unit increase	Illumina [899892]	N
671	chr17	11385889	11385890	rs4792143	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Ischemic stroke	12,389 cases, 62,004 controls	NA	17p12	FLJ45455	rs4792143-T	NR	5E-6		1.0989	[1.05-1.15]	Affymetrix, Illumina [~ 2500000] (imputed)	N
672	chr17	11407900	11407901	rs2969180	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	17p12	SHISA6	rs2969180-A	0.36	7E-11		0.101	[0.072-0.13] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
674	chr17	11693586	11693587	rs7218761	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	17p12	DNAH9	rs7218761-?		1E-7	(IL-6 response)			Illumina [NR]	N
675	chr17	11803460	11803461	rs4792192	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		17p12	DNAH9	rs4792192-?	0.115	3E-6			[NR]	Affymetrix, Illumina [152234]	N
676	chr17	12047543	12047544	rs1870584	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	17p12	MAP2K4	rs1870584-?	NR	5E-6	(SF2)			Affymetrix [5476100] (imputed)	N
681	chr17	12637370	12637371	rs9905820	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Testosterone levels	1,589 European ancestry female individuals	NA	17p12	MYOCD	rs9905820-G	0.42	4E-6		0.094	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
682	chr17	12777401	12777402	rs11651483	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	371 Japanese ancestry cases, 825 Japanese ancestry controls	NA	17p12	RICH2	rs11651483-C	0.665	3E-7	(Recessive model)	1.357	[1.12-1.643]	Illumina [733202]	N
682	chr17	12804549	12804550	rs7209847	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	17p12	RICH2	rs7209847-G	NR	9E-6	(Risk)	0.273	[0.15-0.39] unit decrease	Illumina [628922]	N
683	chr17	12896552	12896553	rs9908102	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17p12	NR	rs9908102-T	NR	2E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
684	chr17	13062794	13062795	rs9900808	22823124	Verweij KJ	2012-07-24	Addict Biol	The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.	Cannabis use (initiation)	10,091 individuals from 4,622 families	NA	17p12	intergenic	rs9900808-A	0.04	2E-6		0.082	unit increase	Illumina [~ 2400000] (imputed)	N
688	chr17	13539803	13539804	rs10521232	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	17p12	HS3ST3A1	rs10521232-?	NR	4E-6	(CF-PWVLTA)			Affymetrix [70897]	N
688	chr17	13559079	13559080	rs10521233	22560479	Forno E	2012-05-02	J Allergy Clin Immunol	Genome-wide association study of the age of onset of childhood asthma.	Asthma (childhood onset)	573 European ancestry children	107 European ancestry children, 591 Hispanic children, 233 children	17p12	NR	rs10521233-G	0.0735	3E-6		0.14	[NR] unit decrease	Illumina [512296]	N
689	chr17	13684916	13684917	rs4792394	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	17p12	intergenic	rs4792394-C	0.469	9E-6		0.06	[NR] unit decrease	Illumina [948658]	N
689	chr17	13708860	13708861	rs7215286	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17p12	NR	rs7215286-C	0.961960845948353	3E-6	(IGP65)	0.4016	[0.23-0.57] unit increase	Illumina [~ 2500000] (imputed)	N
689	chr17	13733805	13733806	rs12949531	19165918	Graham RR	2008-08-01	Nat Genet	Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.	Systemic lupus erythematosus	431 European ancestry cases, 2,155 European ancestry controls	447 European ancestry trios, 293 trios	17p12	intergenic	rs12949531-?	0.22	8E-6			[NR]	Affymetrix [313238]	N
691	chr17	13910548	13910549	rs17608059	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	17p12	COX10	rs17608059-T	0.491	3E-7	(Persistence)	0.094	unit decrease	Affymetrix, Illumina [1252222] (imputed)	N
692	chr17	14117281	14117282	rs12150130	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	17p12	AC005224.1	rs12150130-?		6E-6	(EA, Inherited)	3.48	[1.96-6.21]	Illumina [2421290] (imputed)	N
694	chr17	14294020	14294021	rs3848445	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	17p12	HS3ST3B1	rs3848445-?	0.05	8E-9	(Ft3)			Illumina [496032]	N
695	chr17	14517466	14517467	rs12600394	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	17p12	intergenic	rs12600394-?		2E-6				NR [~ 3000000] (imputed)	N
696	chr17	14561015	14561016	rs12940030	23291589	Lu Y	2013-01-06	Nat Genet	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	Corneal structure	13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals	NA	17p12	PMP22, HS3ST3B1	rs12940030-T	0.71	7E-10		0.08	[0.06-0.1] unit increase	Affymetrix, Illumina [~ 1000000] (imputed)	N
696	chr17	14629745	14629746	rs9899891	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	17p12	FLJ45831	rs9899891-A	0.74	4E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
697	chr17	14714816	14714817	rs189798510	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	17p12	NR	rs189798510-?	NR	2E-7	(Japanese)	0.5677	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
698	chr17	14889924	14889925	rs8066099	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17p12	RPL23AP76	rs8066099-A	0.017	2E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
699	chr17	15060803	15060804	rs2061	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	17p12	PMP22	rs2061-?	NR	9E-7		2.04	[1.3-4.76]	Affymetrix, Illumina [NR] (imputed)	N
700	chr17	15193055	15193056	rs1380181	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	17p12	NR	rs1380181-A	0.2	3E-7		1.97	[1.23-2.71] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
701	chr17	15331516	15331517	rs2906966	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	17p12	CDRT4	rs2906966-?	NR	8E-6	(ppFEV1)			Affymetrix [70897]	N
705	chr17	15826020	15826021	rs859267	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-12p40)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	17p12	ADORA2B	rs859267-C		3E-7	(AA)			Illumina [NR]	N
706	chr17	15899674	15899675	rs7211756	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	17p12	ZSWIM7	rs7211756-?	NR	3E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
708	chr17	16246015	16246016	rs7477	24931836	Diekstra FP	2014-06-27	Ann Neurol	C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.	Amyotrophic lateral sclerosis	4,377 European ancestry cases, 13,017 European ancestry controls	NA	17p11.2	CENPV	rs7477-A	0.49	3E-7		1.16	[NR]	Illumina [~ 1400000] (imputed)	N
708	chr17	16246015	16246016	rs7477	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	17p11.2	PIGL, CENPV	rs7477-T	0.48	3E-7	(Joint)	1.3	[1.16-1.44]	Illumina [254145]	N
712	chr17	16764977	16764978	rs7210837	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	17p11.2	intergenic	rs7210837-?		6E-7				NR [~ 3000000] (imputed)	N
713	chr17	16816542	16816543	rs4792793	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	17p11.2	LOC100129535	rs4792793-C		4E-6		0.12	[0.07-0.17] unit decrease	Affymetrix [~ 2500000] (imputed)	N
713	chr17	16820098	16820099	rs57968458	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	17p11.2	TNFRSF13B	rs57968458-A	0.098	3E-10		0.33	[NR] unit increase	Illumina [12100000] (imputed)	N
713	chr17	16820098	16820099	rs57968458	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	17p11.2	TNFRSF13B	rs57968458-A	0.098	6E-11		0.36	[NR] unit increase	Illumina [12100000] (imputed)	N
713	chr17	16845166	16845167	rs4792800	22673310	Liao M	2012-07-07	Genes Immun	Genome-wide association study identifies common variants at TNFRSF13B associated with IgG level in a healthy Chinese male population.	IgG levels	1,999 Chinese ancestry male individuals	1,496 Chinese ancestry male individuals	17p11.2	TNFRSF13B	rs4792800-G	0.50	1E-12				Illumina [1940243] (imputed)	N
713	chr17	16848749	16848750	rs4561508	23303382	Hong KW	2013-01-10	J Hum Genet	Genome-wide association study of serum albumin:globulin ratio in Korean populations.	Hematology traits	4,637 East Asian ancestry individuals	4,205 East Asian ancestry individuals	17p11.2	TNFRSF13B	rs4561508-T	0.335	8E-24	(ALB/GLB)	0.031	[0.025-0.037] unit increase	Affymetrix [290659]	N
713	chr17	16848749	16848750	rs4561508	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	17p11.2	TNFRSF13B	rs4561508-T	0.37	2E-11	(Japanese)	0.047	[-0.09020-0.18420] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
713	chr17	16848749	16848750	rs4561508	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	17p11.2	TNFRSF13B	rs4561508-T	0.11	2E-18		0.0401	[0.031-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
713	chr17	16848749	16848750	rs4561508	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	17p11.2	TNFRSF13B	rs4561508-T	0.11	1E-9	(EA)	0.036	[0.024-0.048] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
713	chr17	16849138	16849139	rs4273077	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	17p11.2	TNFRSF13B	rs4273077-G	0.12	8E-9		1.255	[1.16-1.36]	Illumina [414804]	N
713	chr17	16849138	16849139	rs4273077	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	17p11.2	TNFRSF13B	rs4273077-G	0.46	3E-10	(TP)	0.088	[0.061-0.115] unit increase	Illumina [561583]	N
713	chr17	16863637	16863638	rs4985726	22558069	Osman W	2012-04-27	PLoS One	Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.	Non-albumin protein levels	Up to 9,103 Japanese ancestry individuals	Up to 1,629 Japanese ancestry individuals	17p11.2	TNFRSF13B	rs4985726-G	0.375	7E-24	(NAP)	0.135	[0.11-0.16] unit increase	Illumina [2178644] (imputed)	N
713	chr17	16863637	16863638	rs4985726	22558069	Osman W	2012-04-27	PLoS One	Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.	Non-albumin protein levels	Up to 9,103 Japanese ancestry individuals	Up to 1,629 Japanese ancestry individuals	17p11.2	TNFRSF13B	rs4985726-G	0.375	1E-14	(TP)	0.107	[0.080-0.134] unit increase	Illumina [2178644] (imputed)	N
714	chr17	16933403	16933404	rs11867934	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	17p11.2	LOC100128283, TNFRSF13B, MPRIP	rs11867934-C	0.79	7E-6		1.43	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
714	chr17	16960977	16960978	rs6502557	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17p11.2	NR	rs6502557-G	0.861939099364214	6E-6	(IGP1)	0.2172	[0.12-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
715	chr17	17068181	17068182	rs61744862	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17p11.2	MPRIP	rs61744862-A	0.041	7E-8	(IGFBP-3 )	0.04	[NR] ng/mL increase	Illumina [899892]	N
715	chr17	17142895	17142896	rs12600635	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17p11.2	NR	rs12600635-G	0.145679882058288	4E-7	(IGP41)	0.2221	[0.14-0.31] unit decrease	Illumina [~ 2500000] (imputed)	N
715	chr17	17142895	17142896	rs12600635	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17p11.2	NR	rs12600635-G	0.145264718437784	2E-7	(IGP1)	0.2272	[0.14-0.31] unit decrease	Illumina [~ 2500000] (imputed)	N
717	chr17	17420198	17420199	rs4646404	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	17p11.2	PEMT	rs4646404-G	0.6714	1E-11		0.0264	[0.019-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
717	chr17	17420198	17420199	rs4646404	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	17p11.2	PEMT	rs4646404-G	0.6671	4E-11	(women)	0.0336	[0.024-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
717	chr17	17420198	17420199	rs4646404	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	17p11.2	PEMT	rs4646404-G	0.6653	1E-11	(EA)	0.0266	[0.019-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
717	chr17	17420198	17420199	rs4646404	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	17p11.2	PEMT	rs4646404-G	0.6618	5E-11	(EA, women)	0.0337	[0.024-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
718	chr17	17543721	17543722	rs12936587	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	17p11.2	RASD1, PEMT, RAI1	rs12936587-?		2E-10				Affymetrix, Illumina [up to 2500000] (imputed)	N
718	chr17	17543721	17543722	rs12936587	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	17p11.2	RASD1, PEMT, RAI1	rs12936587-A	NR	2E-7		1.0753	[1.04-1.11]	Illumina [575000] (imputed)	N
718	chr17	17543721	17543722	rs12936587	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	17p11.2	RASD1, SMCR3, PEMT	rs12936587-G	0.56	4E-10		1.07	[1.05-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
718	chr17	17544703	17544704	rs12449964	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	17p11.2	RASD1, PEMT, RAI1	rs12449964-?		2E-8				Affymetrix, Illumina [up to 2500000] (imputed)	N
720	chr17	17715100	17715101	rs11868035	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	17p11.2	SREBF1, RAI1	rs11868035-G	0.69	6E-8		1.18	[1.11-1.25]	Illumina [522782]	N
722	chr17	17958401	17958402	rs8082590	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17p11.2	NR	rs8082590-G	NR	2E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
722	chr17	17958401	17958402	rs8082590	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	17p11.2	ATPAF2, DRG2, GID4, LRRC48, MYO15A, RAI1, SREBF1, TOM1L2	rs8082590-G	0.386	2E-8		1.0649627	[1.04-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
722	chr17	18064729	18064730	rs8077577	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17p11.2	MYO15A, ALKBH5	rs8077577-A	0.11	4E-6	(Testosterone )	0.03	[NR] ng/mL increase	Illumina [899892]	N
728	chr17	18753869	18753870	rs4924935	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	17p11.2	PRPSAP2	rs4924935-G	0.23	8E-6	(dominant)	1.37	[1.19-1.58]	Illumina [420236]	N
731	chr17	19153416	19153417	rs4273100	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17p11.2	NR	rs4273100-T	NR	5E-7		1.1	[NR]	Illumina [7158791] (imputed)	N
736	chr17	19804246	19804247	rs397969	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	17p11.2	AKAP10	rs397969-C	NR	2E-9		2.131	[1.43-2.83] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
736	chr17	19912709	19912710	rs8067545	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17p11.2	NR	rs8067545-C	NR	1E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
737	chr17	20023098	20023099	rs2013441	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17p11.2	SPECC1	rs2013441-A	0.34	9E-6	(Urinary nitrogen )	0.03	[NR] g/d increase	Illumina [899892]	N
744	chr17	20924076	20924077	rs7226229	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	17p11.2	MGC87631, DHRS7B	rs7226229-?	NR	1E-6		0.117	[0.070-0.164] unit increase	Illumina [> 2500000] (imputed)	N
747	chr17	21261559	21261560	rs4986044	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17p11.2	KCNJ12	rs4986044-C	0.531	1E-7	(EA)	0.016	[0.01-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
747	chr17	21261559	21261560	rs4986044	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17p11.2	KCNJ12	rs4986044-C	0.523	2E-7		0.016	[0.0096-0.0214] kg/m2 increase	Affymetrix, Illumina [2550021]	N
747	chr17	21284222	21284223	rs4640244	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17p11.2	KCNJ12	rs4640244-A	0.61	2E-8		0.024	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
750	chr17	21707059	21707060	rs1975974	20953189	Stuart PE	2010-10-17	Nat Genet	Genome-wide association analysis identifies three psoriasis susceptibility loci.	Psoriasis	Up to 1,831 cases, up to 2,546 controls	Up to 4,064 cases, up to 4,685 controls	17p11.2	NR	rs1975974-G	0.23	1E-7		1.17	[NR]	Illumina, Perlegen [up to 7456344] (imputed)	N
778	chr17	25320888	25320889	rs73317122	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	17q11.1	intergenic	rs73317122-?	NR	4E-6	(SF8)			Affymetrix [5476100] (imputed)	N
779	chr17	25541277	25541278	rs4795519	21540461	Kim DH	2011-05-03	Blood	A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.	Chronic myeloid leukemia	201 Korean ancestry cases, 497 Korean ancestry controls	237 Korean ancestry cases, 1,000 Korean ancestry controls, 232 European ancestry cases, 576 European ancestry controls	17q11.1	WSB1, FAM27L	rs4795519-C	0.48	1E-12		1.85	[1.56-2.17]	Affymetrix [456522]	N
780	chr17	25567079	25567080	rs12602978	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	17q11.1	WSB1	rs12602978-?	NR	7E-7	(DMFS5mand)			Illumina [518997]	N
782	chr17	25843642	25843643	rs2945412	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q11.2	NR	rs2945412-A	0.59	3E-8	(EA)	1.0579644		Affymetrix, Illumina [~ 9000000] (imputed)	N
782	chr17	25843642	25843643	rs2945412	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q11.2	NR	rs2945412-G	0.59	5E-20	(EA)	1.1196703		Affymetrix, Illumina [~ 9000000] (imputed)	N
782	chr17	25843642	25843643	rs2945412	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	17q11.2	LGALS9, NOS2	rs2945412-A	0.587	9E-17		1.137	[1.10-1.175]	Affymetrix, Illumina [1230000] (imputed)	N
784	chr17	26092036	26092037	rs944722	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	17q11.2	NOS2	rs944722-C	0.4	3E-7	(EA)	0.075	[0.046-0.104] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
784	chr17	26092036	26092037	rs944722	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	17q11.2	NOS2	rs944722-C	0.38	1E-9		0.073	[0.049-0.097] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
784	chr17	26106674	26106675	rs4795067	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	17q11.2	NOS2	rs4795067-G	0.351	6E-10		1.2	[1.13-1.27]	Illumina [up to 4778154] (imputed)	N
784	chr17	26106674	26106675	rs4795067	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	17q11.2	NOS2	rs4795067-G	0.351	3E-6	(EA)	1.17	[1.1-1.25]	Illumina [up to 4778154] (imputed)	N
784	chr17	26106674	26106675	rs4795067	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	17q11.2	NOS2	rs4795067-?	NR	6E-12	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
784	chr17	26106674	26106675	rs4795067	20953189	Stuart PE	2010-10-17	Nat Genet	Genome-wide association analysis identifies three psoriasis susceptibility loci.	Psoriasis	Up to 1,831 cases, up to 2,546 controls	Up to 4,064 cases, up to 4,685 controls	17q11.2	NOS2	rs4795067-G	0.35	4E-11		1.19	[NR]	Illumina, Perlegen [up to 7456344] (imputed)	N
784	chr17	26206413	26206414	rs3751972	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	17q11.2	LYRM9	rs3751972-C	0.26	7E-9	(EA)	0.095	[0.064-0.126] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
784	chr17	26206413	26206414	rs3751972	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	17q11.2	LYRM9	rs3751972-C	0.25	2E-10		0.086	[0.059-0.113] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
787	chr17	26601132	26601133	rs2006933	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	17q11.2	intergenic	rs2006933-?	0.25	9E-7	(Meta)	1.2658	[1.16-1.37]	Illumina [254145]	N
788	chr17	26610251	26610252	rs34517613	24256812	Fogh I	2013-11-20	Hum Mol Genet	A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis (sporadic)	6,100 European ancestry cases, 7,125 European ancestry controls	2,074 European ancestry cases, 2,556 European ancestry controls	17q11.2	SALM1	rs34517613-T	NR	9E-9		1.2	[1.12-1.29]	Illumina [~ 7000000] (imputed)	N
788	chr17	26689640	26689641	rs756766	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	17q11.2	NR	rs756766-?	NR	7E-6	(EA)	0.5607	[0.32-0.8] unit decrease	Illumina [up to 11892802] (imputed)	N
788	chr17	26694860	26694861	rs704	25080503	Kwan JS	2014-07-30	Hum Mol Genet	Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.	Osteoprotegerin levels	4,158 European ancestry males, 531 South Tyrol males, 4,253 European ancestry females, 692 South Tyrol females, 702 Han Chinese ancestry females	NA	17q11.2	MIR4723, VTN, IFT20, SARM1, TNFAIP1, SLC46A1, TMEM199, SEBOX, FLJ40504, POLDIP2, TMEM97	rs704-A	0.494	1E-9	(Sex-combined)	0.03	[0.020-0.040] unit decrease	Affymetrix, Illumina [up to 2544063] (imputed)	N
792	chr17	27254899	27254900	rs184910283	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	17q11.2	NR	rs184910283-?	NR	3E-6	(Latino)	1.0577	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
795	chr17	27537409	27537410	rs34638952	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	17q11.2	MYO18A	rs34638952-A	0.636	1E-8	(EA, men)	0.091	[0.06-0.122] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
796	chr17	27675225	27675226	rs11653144	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	17q11.2	TAOK1	rs11653144-T	0.442	4E-8	(Mean Platelet Volume)	0.13	[0.091-0.169] fL decrease	Affymetrix, Illumina [~ 2200000] (imputed)	N
796	chr17	27703348	27703349	rs2138852	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	17q11.2	TAOK1	rs2138852-T	NR	1E-22		0.02	[0.012-0.020] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
796	chr17	27703348	27703349	rs2138852	19110211	Meisinger C	2008-12-24	Am J Hum Genet	A genome-wide association study identifies three loci associated with mean platelet volume.	Mean platelet volume	1,606 European ancestry individuals	8,617 European ancestry individuals	17q11.2	TAOK1	rs2138852-C	0.47	7E-28		0.02	[0.01-0.02] per log fl decrease	Affymetrix [335152]	N
796	chr17	27714586	27714587	rs8076739	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	17q11.2	TAOK1	rs8076739-T	NR	5E-38		0.013	[0.011-0.015] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
796	chr17	27769597	27769598	rs9900280	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	17q11.2	TAOK1	rs9900280-G	0.52	1E-10		0.1	[NR] unit increase	Illumina [476395]	N
797	chr17	27814495	27814496	rs559972	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	17q11.2	TAOK1	rs559972-T	NR	3E-18		3.264	[2.53-4] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
797	chr17	27917770	27917771	rs3110496	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q11.2	ANKRD13B	rs3110496-A	0.33	7E-9		0.022	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
801	chr17	28349094	28349095	rs9902453	25288136	Cornelis MC	2014-10-07	Mol Psychiatry	Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.	Coffee consumption (cups per day)	91,462 European ancestry individuals	30,062 European ancestry individuals, 7,964 African American individuals	17q11.2	EFCAB5, SSH2, CCDC55	rs9902453-A	0.54	3E-8		0.03	[0.01-0.05] unit decrease	Affymetrix, Illumina [2373958] (imputed)	N
805	chr17	28883740	28883741	rs216452	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17q11.2	NR	rs216452-T	NR	9E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
807	chr17	29164022	29164023	rs3764419	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	17q11.2	ATAD5	rs3764419-C	0.61	9E-14		1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
807	chr17	29164022	29164023	rs3764419	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q11.2	ATAD5/RNF135	rs3764419-A	0.39	2E-21		0.035	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
808	chr17	29247714	29247715	rs3760318	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17q11.2	CENTA2	rs3760318-A	0.374	3E-41		0.041	[0.035-0.047] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
808	chr17	29247714	29247715	rs3760318	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	17q11.2	CRLF3, ATAD5, CENTA2, RNF135	rs3760318-C	0.63	2E-9		6.0	[4.04-7.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
808	chr17	29333515	29333516	rs17826255	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		17q11.2	LOC646021	rs17826255-?	0.067	8E-9			[NR]	Affymetrix, Illumina [152234]	N
816	chr17	30343281	30343282	rs17780086	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q11.2	LRRC37B	rs17780086-A	0.15	3E-8		0.028	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
817	chr17	30535855	30535856	rs17780304	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q11.2	RHOT1	rs17780304-A	0.0060	6E-6	(Total glutathione )	0.03	[NR] umol/L increase	Illumina [899892]	N
818	chr17	30635114	30635115	rs62064224	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17q11.2	NR	rs62064224-G	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
820	chr17	30877657	30877658	rs225190	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	17q11.2	MYO1D	rs225190-G	0.36	6E-6	(allelic)	1.26	[1.14-1.39]	Illumina [420236]	N
820	chr17	30891813	30891814	rs379123	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	17q11.2	MYO1D	rs379123-T	0.59	2E-8	(Severe Centrilobular)	0.005	[0.0030-0.0070] unit decrease	Illumina [6942916] (imputed)	N
820	chr17	30891813	30891814	rs379123	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	17q11.2	MYO1D	rs379123-T	0.59	2E-6	(Severe Centrilobular, EA)	0.005	[0.0030-0.0070] unit decrease	Illumina [6942916] (imputed)	N
820	chr17	30896454	30896455	rs225212	22322875	Kim SJ	2012-02-09	Circ J	Genetic association of short sleep duration with hypertension incidence--a 6-year follow-up in the Korean genome and epidemiology study.	Hypertension risk in short sleep duration	4,965 Korean ancestry individuals	NA	17q11.2	MYO1D	rs225212-?	NR	5E-6	SNP+sleep	5.08	[2.52-10.23]	Affymetrix [334750]	N
820	chr17	30903309	30903310	rs11654699	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	17q11.2	MYO1D	rs11654699-C	0.5243	5E-6	(Ordinal II)	0.2055	[0.12-0.29] unit increase	Affymetrix, Illumina [NR] (imputed)	N
822	chr17	31078271	31078272	rs17183295	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	17q11.2	MYO1D	rs17183295-T	0.23	1E-10		0.131	[0.092-0.17] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
824	chr17	31393701	31393702	rs17808461	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q11.2	ACCN1	rs17808461-A	0.117	4E-6	(MCP1 )	0.02	[NR] pg/mL increase	Illumina [899892]	N
825	chr17	31485879	31485880	rs72819126	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	17q11.2	NR	rs72819126-?	NR	1E-6	(EA)	0.5993	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
826	chr17	31665327	31665328	rs320637	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	17q11.2	ACCN1	rs320637-?		4E-6				Illumina [859311]	N
827	chr17	31737420	31737421	rs1354492	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	17q11.2	ACCN1	rs1354492-A	0.49	2E-6	(FVIII activity)	0.16	[0.10-0.22] IU/dL increase	Illumina [442728]	N
831	chr17	32287448	32287449	rs11650066	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	17q12	intergenic	rs11650066-?	NR	6E-6				Illumina [574919]	N
831	chr17	32306422	32306423	rs117364231	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	17q12	ACCN1	rs117364231-?	NR	1E-7				Affymetrix [5486770] (imputed)	N
832	chr17	32422698	32422699	rs116908816	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QT interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	17q12	NR	rs116908816-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
832	chr17	32464153	32464154	rs9901756	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	17q12	CCL2, LOC100131744	rs9901756-A	0.893	7E-6		1.21	[1.11-1.32]	Illumina [870065]	N
833	chr17	32570546	32570547	rs9889296	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q12	NR	rs9889296-?	NR	1E-20	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
833	chr17	32593664	32593665	rs3091315	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q12	NR	rs3091315-A	0.73	4E-20	(EA)	1.1091312		Affymetrix, Illumina [~ 9000000] (imputed)	N
833	chr17	32593664	32593665	rs3091315	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q12	NR	rs3091315-G	0.73	8E-25	(EA)	1.1525311		Affymetrix, Illumina [~ 9000000] (imputed)	N
833	chr17	32593664	32593665	rs3091315	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	17q12	CCL2, CCL7	rs3091315-A	0.723	2E-13		1.2	[1.14-1.26]	Affymetrix, Illumina [953241] (imputed)	N
833	chr17	32593973	32593974	rs3091316	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	17q12	CCL2, CCL11, CCL13	rs3091316-G	0.722	1E-26		1.122	[1.087-1.158]	Affymetrix, Illumina [1230000] (imputed)	N
833	chr17	32593973	32593974	rs3091316	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	17q12	CCL2, CCL11, CCL8, CCL13, CCL7, CCL1	rs3091316-G	0.732	4E-8		1.14	[1.03-1.27]	Affymetrix, Illumina [1060934] (imputed)	N
835	chr17	32862189	32862190	rs17662217	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	17q12	intergenic	rs17662217-?	NR	3E-6	(AUC)			NR [2092490]	N
836	chr17	32972728	32972729	rs4990638	23903073	Kim HN	2013-08-01	J Hum Genet	Genome-wide association study of the five-factor model of personality in young Korean women.	Personality dimensions	1,089 Korean ancestry females	2,090 Korean ancestry individuals	17q12	TMEM132E	rs4990638-C		2E-6	(Openness)	0.06	[-0.0184-0.1384] unit decrease	Illumina [2053685] (imputed)	N
836	chr17	32989537	32989538	rs11654964	24080446	Rudolph A	2013-11-04	Endocr Relat Cancer	Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.	Lobular breast cancer (menopausal hormone therapy interaction)	541 European ancestry cases	676 European ancestry cases, 9,266 European ancestry controls	17q12	TMEM132E	rs11654964-?		3E-6		1.67	[1.35-2.06]	Illumina [2500000] (imputed)	N
837	chr17	33112105	33112106	rs730547	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	17q12	TMEM132E	rs730547-?		1E-7				Illumina [859311]	N
839	chr17	33324381	33324382	rs2074518	19305408	Newton-Cheh C	2009-03-22	Nat Genet	Common variants at ten loci influence QT interval duration in the QTGEN Study.	QT interval	13,685 European ancestry individuals	15,854 European ancestry individuals	17q12	LIG3, RFFL	rs2074518-T	0.46	6E-12		1.05	[0.71-1.39] msec decrease	Affymetrix, Illumina [up to 2543686] (imputed)	N
839	chr17	33331574	33331575	rs1052536	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	17q12	LIG3	rs1052536-C	0.53	6E-25		0.98	[0.78-1.18] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
843	chr17	33843511	33843512	rs8070473	20800221	Terracciano A	2010-08-25	Biol Psychiatry	Genome-wide association scan of trait depression.	Depression (quantitative trait)	3,972 Sardinian individuals, 839 European ancestry individuals	NA	17q12	SLFN12L	rs8070473-T	0.32	2E-6		0.16	[NR] unit decrease	Affymetrix, Illumina [up to 2500000] (imputed)	N
843	chr17	33884803	33884804	rs10512472	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	17q12	SNORD7, AP2B1	rs10512472-C	NR	2E-14		3.636	[2.7-4.57] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
843	chr17	33892067	33892068	rs2840044	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	17q12	SLFN14	rs2840044-?	0.33	8E-6	(Breast cancer, overal toxicity, multivariable analysis)	1.56		Illumina [2417493] (imputed)	N
843	chr17	33944054	33944055	rs16971217	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	17q12	SNORD7, AP2B1	rs16971217-C	NR	4E-12		0.009	[0.007-0.011] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
847	chr17	34358296	34358297	rs712046	23932459	Yao TC	2013-08-06	J Allergy Clin Immunol	Genome-wide association study of lung function phenotypes in a founder population.	Pulmonary function	1,144 Hutterite individuals	NA	17q12	CCL23	rs712046-?	NR	3E-7	(FEV1/FVC)			Affymetrix [246010]	N
850	chr17	34819190	34819191	rs4796217	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	17q12	CCL4L2	rs4796217-?	0.34	4E-21	(MIPb)			Illumina [496032]	N
851	chr17	34914786	34914787	rs12150665	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q12	GGNBP2	rs12150665-T	0.595	8E-8		0.016	[0.01-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
851	chr17	34914786	34914787	rs12150665	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q12	GGNBP2	rs12150665-T	0.589	2E-7	(EA)	0.016	[0.01-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
852	chr17	35015901	35015902	rs12950363	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	17q12	intergenic	rs12950363-T	0.0749	2E-6		0.9201	[0.54-1.3] unit increase	Affymetrix, Illumina [NR] (imputed)	N
853	chr17	35189090	35189091	rs17138064	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	17q12	intergenic	rs17138064-?	0.84	5E-7	(CP)	1.92	[1.47-2.5]	Illumina [NR]	N
854	chr17	35306311	35306312	rs2306658	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q12	AATF	rs2306658-G	0.249	9E-6	(Hip circumference )	0.02	[NR] cm increase	Illumina [899892]	N
854	chr17	35306311	35306312	rs2306658	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q12	AATF	rs2306658-G	0.249	2E-6	(Fat mass )	0.03	[NR] % increase	Illumina [899892]	N
857	chr17	35731080	35731081	rs8081319	24999842	Garner C	2014-07-07	PLoS One	Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.	Celiac disease	1,550 European ancestry cases, 3,084 European ancestry controls	NA	17q12	HOXB9	rs8081319-?	NR	8E-7		1.36	[1.20-1.54]	Illumina [517345]	N
858	chr17	35850552	35850553	rs712039	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	17q12	NR	rs712039-?	0.49	3E-6		1.21	[1.10-1.30]	Affymetrix [> 333754] (imputed)	N
858	chr17	35889530	35889531	rs763512	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	17q12	NR	rs763512-?	NR	6E-6	(AA)	0.3996	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
858	chr17	35898341	35898342	rs2074409	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	17q12	SYNRG	rs2074409-T	NR	2E-6	(EA)	1.2	[0.67-1.73] unit increase	Affymetrix [~ 2300000] (imputed)	N
859	chr17	36026334	36026335	rs6607284	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	17q12	NR	rs6607284-?	NR	7E-6		1.2262	[NR]	Affymetrix [722112]	N
860	chr17	36073491	36073492	rs3110643	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q12	HNF1B	rs3110643-C	0.16	4E-6		1.65	[1.43-1.87]	Illumina [2292247] (imputed)	N
860	chr17	36074978	36074979	rs11649743	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	17q12	NR	rs11649743-G	0.81	6E-7		1.14	[1.08-1.20]	Affymetrix [up to 19977088] (imputed)	N
860	chr17	36074978	36074979	rs11649743	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	17q12	NR	rs11649743-G	0.81	1E-6	(European)	1.15	[1.09-1.22]	Affymetrix [up to 19977088] (imputed)	N
860	chr17	36096299	36096300	rs2005705	24740154	Lange EM	2014-04-16	PLoS One	Genome-wide association scan for variants associated with early-onset prostate cancer.	Prostate cancer (early onset)	931 European ancestry cases, 4,120 European ancestry controls	2,571 European ancestry cases, 921 European ancestry controls	17q12	TCF2	rs2005705-G	0.56	1E-6		1.35	[1.23-1.47]	Illumina [2639562] (imputed)	N
860	chr17	36096514	36096515	rs757210	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	17q12	HNF1B	rs757210-A	0.63	2E-8		1.11	[1.07-1.15]	Illumina [up to 10962898] (imputed)	N
860	chr17	36096514	36096515	rs757210	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	17q12	HNF1B, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, TBC1D3F, TBC1D3, MRPL45, GPR179, SOCS7, ARHGAP23	rs757210-G	0.37	8E-10	(Serious invasive)	1.12	[1.08-1.17]	Illumina [2508744] (imputed)	N
860	chr17	36098039	36098040	rs4430796	26443449	Wang M	2015-10-07	Nat Commun	Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.	Prostate cancer	3,000 East Asian ancestry cases, 4,394 East Asian ancestry controls	3,605 East Asian ancestry cases, 3,919 East Asian ancestry controls	17q12	HNF1B	rs4430796-A	NR	6E-8		1.2345679	[NR]	Illumina [4550396] (imputed)	N
860	chr17	36098039	36098040	rs4430796	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	17q12	HNF1B	rs4430796-G	0.53	9E-10		1.13	[1.07-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
860	chr17	36098039	36098040	rs4430796	23945395	Hara K	2013-08-14	Hum Mol Genet	Genome-wide association study identifies three novel loci for type 2 diabetes.	Type 2 diabetes	5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls	24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls	17q12	HNF1B	rs4430796-G	0.37	4E-6		1.11	[1.06-1.16]	Illumina [6209637] (imputed)	N
860	chr17	36098039	36098040	rs4430796	22961080	Li H	2012-09-06	Diabetes	A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.	Type 2 diabetes	1,839 Han Chinese ancestry cases, 1,873 Han Chinese ancestry controls	15,979 East Asian ancestry cases, 19,360 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	17q12	HNF1B	rs4430796-G	0.276	2E-11		1.19	[1.13-1.25]	Illumina [2234194] (imputed)	N
860	chr17	36098039	36098040	rs4430796	21499250	Spurdle AB	2011-04-17	Nat Genet	Genome-wide association study identifies a common variant associated with risk of endometrial cancer.	Endometrial cancer	1,265 European ancestry cases, 5,190 European ancestry controls	3,957 European ancestry cases, 6,886 European ancestry controls	17q12	HNF1B	rs4430796-A	0.52	7E-10		1.19	[1.12-1.27]	Illumina [519655]	N
860	chr17	36098039	36098040	rs4430796	21160077	Gudmundsson J	2010-12-15	Sci Transl Med	Genetic correction of PSA values using sequence variants associated with PSA levels.	Serum prostate-specific antigen levels	7,538 European ancestry individuals	2,373 European ancestry individuals	17q12	HNF1B	rs4430796-A	0.52	6E-11		9.4	[NR] % increase	Illumina [304070]	N
860	chr17	36098039	36098040	rs4430796	20581827	Voight BF	2010-06-27	Nat Genet	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Type 2 diabetes	8,130 European ancestry cases, 38,987 European ancestry controls	Up to 34,412 European ancestry cases, 59,925 European ancestry controls	17q12	HNF1B, TCF2	rs4430796-G		2E-6		1.14	[1.08-1.20]	Affymetrix, Illumina [2426886] (imputed)	N
860	chr17	36098039	36098040	rs4430796	19767754	Gudmundsson J	2009-09-20	Nat Genet	Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.	Prostate cancer	Up to 1,968 European ancestry cases, 35,382 European ancestry controls	Up to 11,806 European ancestry cases, 12,387 European ancestry controls	17q12	intergenic	rs4430796-A	0.52	8E-6		1.19	[1.10-1.28]	Illumina [310520]	N
860	chr17	36098039	36098040	rs4430796	18264096	Thomas G	2008-02-10	Nat Genet	Multiple loci identified in a genome-wide association study of prostate cancer.	Prostate cancer	1,172 European ancestry cases, 1,157 European ancestry controls	3,941 European ancestry cases, 3,964 European ancestry controls	17q12	HNF1B	rs4430796-A	0.54	1E-9		1.18	[1.04-1.32]	Illumina [527869]	N
860	chr17	36098039	36098040	rs4430796	17603485	Gudmundsson J	2007-07-01	Nat Genet	Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.	Prostate cancer	1,501 European ancestry cases, 11,290 European ancestry controls	1,992 European ancestry cases, 3,058 European ancestry controls	17q12	TCF2	rs4430796-A	0.49	1E-11		1.22	[1.15-1.30]	Illumina [310520]	N
860	chr17	36101155	36101156	rs7501939	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	17q12	NR	rs7501939-C	0.6	4E-15		1.17	[1.13-1.22]	Affymetrix [up to 19977088] (imputed)	N
860	chr17	36101155	36101156	rs7501939	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	17q12	NR	rs7501939-C	0.6	1E-14	(European)	1.19	[1.14-1.24]	Affymetrix [up to 19977088] (imputed)	N
860	chr17	36101155	36101156	rs7501939	25877299	Kristiansen W	2015-04-15	Hum Mol Genet	Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.	Testicular germ cell tumor	1,326 European ancestry cases, 6,687 European ancestry controls	710 European ancestry case-parent triads, 289 European ancestry cases, 290 European ancestry controls	17q12	HNF1B	rs7501939-C	0.624	1E-9		1.28	[1.19-1.39]	Illumina [610240]	N
860	chr17	36101155	36101156	rs7501939	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	17q12	TCF2	rs7501939-C	NR	2E-6		1.19	[1.11-1.28]	Illumina [571243]	N
860	chr17	36101155	36101156	rs7501939	20676098	Takata R	2010-08-01	Nat Genet	Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.	Prostate cancer	1,583 Japanese ancestry cases, 3,386 Japanese ancestry controls	3,001 Japanese ancestry cases, 5,415 Japanese ancestry controls	17q12	HNF1B	rs7501939-?	NR	1E-12				Illumina [510687]	N
860	chr17	36101155	36101156	rs7501939	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	17q12	NR	rs7501939-?	NR	3E-18				Illumina [541129]	N
860	chr17	36101155	36101156	rs7501939	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	17q12	HNF1B	rs7501939-C	0.57	9E-12		1.41	[NR]	Illumina [541129]	N
860	chr17	36101585	36101586	rs8064454	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	17q12	HNF1B	rs8064454-C	0.52	8E-29		1.24	[1.19-1.29]	Illumina [1531807] (imputed)	N
860	chr17	36103564	36103565	rs11263763	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	17q12	NR	rs11263763-A	0.519	5E-24		1.22	[1.18-1.28]	Affymetrix [up to 19977088] (imputed)	N
866	chr17	36922195	36922196	rs1043515	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q12	PIP4K2B	rs1043515-A	0.45	3E-10		0.023	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
868	chr17	37101379	37101380	rs9906595	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q12	FBXO47	rs9906595-A	0.041	4E-6	(Light activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
869	chr17	37331344	37331345	rs523516	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q12	NR	rs523516-T	0.176237627398483	4E-6	(IGP56)	0.1916	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
869	chr17	37332962	37332963	rs626657	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q12	NR	rs626657-C	0.861032878949711	2E-6	(IGP55)	0.2321	[0.14-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
870	chr17	37401050	37401051	rs11078895	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	17q12	LOC101929578	rs11078895-A	0.259	5E-6		0.00201	[0.0011-0.0029] unit decrease	Affymetrix [1219546] (imputed)	N
871	chr17	37543448	37543449	rs7208487	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	17q12	ORMDL3	rs7208487-T	0.84	8E-7		1.32	[1.18-1.48]	Illumina [507467]	N
871	chr17	37610122	37610123	rs11655550	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	17q12	MED1	rs11655550-C	0.16	7E-7		1.475	[1.368-1.59]	Illumina [NR]	N
872	chr17	37740160	37740161	rs1877030	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	17q12	MED1	rs1877030-C	0.83	2E-8		1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
873	chr17	37813855	37813856	rs11869286	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	17q12	STARD3	rs11869286-G	0.35	3E-17		0.032	[NR] unit decrease	NR [NR] (imputed)	N
873	chr17	37813855	37813856	rs11869286	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	17q12	STARD3	rs11869286-C	0.34	3E-14		0.51	[0.35-0.67] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
874	chr17	37912376	37912377	rs12946510	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q12	NR	rs12946510-A	0.4675	1E-25	(EA)	1.141072	[1.12-1.17]	Affymetrix, Illumina [~ 9000000] (imputed)	N
874	chr17	37912376	37912377	rs12946510	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q12	NR	rs12946510-A	0.4675	2E-39	(EA)	1.1405234	[1.12-1.16]	Affymetrix, Illumina [~ 9000000] (imputed)	N
874	chr17	37912376	37912377	rs12946510	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q12	NR	rs12946510-A	0.4675	2E-24	(EA)	1.1311512	[1.11-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
874	chr17	37912376	37912377	rs12946510	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	17q12	GSDMB, IKZF3, GSDMA, ZPBP2, ORMDL3	rs12946510-T	0.465	4E-38		1.157	[1.124-1.19]	Affymetrix, Illumina [1230000] (imputed)	N
874	chr17	37922258	37922259	rs907092	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	17q12	IKZF3	rs907092-A	0.45	8E-6		1.29	[1.15-1.44]	Illumina [305724]	N
874	chr17	37972707	37972708	rs12450323	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	17q21.1	IKZF3	rs12450323-T		4E-7		1.16	[1.1-1.22]	Illumina [up to 4972397] (imputed)	N
874	chr17	37976468	37976469	rs9303277	23740937	Martin JE	2013-06-10	Hum Mol Genet	A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.	Systemic lupus erythematosus and Systemic sclerosis	up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls	up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls	17q21.1	IKZF3	rs9303277-?	NR	7E-6	(ACA)	1.191	[NR]	Illumina [NR]	N
874	chr17	37976468	37976469	rs9303277	23000144	Nakamura M	2012-09-18	Am J Hum Genet	Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.	Primary biliary cirrhosis	487 Japanese ancestry cases, 476 Japanese ancestry controls	787 Japanese ancestry cases, 615 Japanese ancestry controls	17q21.1	GSDMB, IKZF3, ZPBP2, ORMDL3	rs9303277-T	NR	4E-9		1.44	[1.28-1.63]	Affymetrix [421245]	N
874	chr17	37976468	37976469	rs9303277	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	17q21.1	GSDMB, IKZF3, ZPBP2, ORMDL3	rs9303277-T	0.51	2E-9		1.38	[NR]	Illumina [276459]	N
875	chr17	38023744	38023745	rs4795397	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q21.1	NR	rs4795397-?	NR	8E-44	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
875	chr17	38040762	38040763	rs2872507	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	17q21.1	ORMDL3	rs2872507-A	NR	2E-6	(T1D)	1.1	[NR]	Affymetrix, Illumina [NR]	N
875	chr17	38040762	38040763	rs2872507	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	17q21.1	GSDML, IKZF3, ZPBP2, ORMDL3, PNMT	rs2872507-A	0.46	5E-11		1.15	[1.10-1.19]	Affymetrix, Illumina [~ 1100000] (imputed)	N
875	chr17	38040762	38040763	rs2872507	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	17q21.1	IKZF3, GSMDL, ZPBP2, ORMDL3	rs2872507-A	0.458	2E-9		1.14	[1.09-1.19]	Affymetrix, Illumina [953241] (imputed)	N
875	chr17	38040762	38040763	rs2872507	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	17q21.1	IKZF3	rs2872507-A	0.47	9E-7		1.1	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
875	chr17	38040762	38040763	rs2872507	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	17q21.1	ORMDL3	rs2872507-A	0.47	5E-9		1.12	[NR]	Affymetrix, Illumina [635547] (imputed)	N
875	chr17	38051347	38051348	rs8067378	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	17q21.1	GSDMB	rs8067378-G	0.22	9E-10	(Matched)	1.19	[1.13-1.26]	Affymetrix [563339]	N
875	chr17	38057196	38057197	rs8069176	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	17q21.1	GSDMB, ZPBP2	rs8069176-A	0.45	5E-6	(EA)	0.066	[0.039-0.093] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
875	chr17	38057196	38057197	rs8069176	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	17q21.1	GSDMB, ZPBP2	rs8069176-A	0.43	2E-8		0.066	[0.042-0.09] unit decrease	Affymetrix, Illumina [2253077] (imputed)	N
875	chr17	38062195	38062196	rs2305480	24241537	Bonnelykke K	2013-11-17	Nat Genet	A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.	Asthma (childhood onset)	1,173 European ancestry cases, 2,511 European ancestry controls	395 European ancestry cases, 2,663 European ancestry controls, 63 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry cases, 917 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry controls, 6,783 cases, 7,720 controls	17q21.1	GSDMB	rs2305480-G	0.6	6E-23		1.32	[1.23-1.39]	Affymetrix, Illumina [124514]	N
875	chr17	38062195	38062196	rs2305480	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	17q21.1	GSDMB	rs2305480-G	0.55	1E-7		1.18	[1.11-1.23]	Illumina [582892]	N
875	chr17	38062195	38062196	rs2305480	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	17q21.1	GSDML, ORMDL3, STAC2, FBXL20, MED1, CRKRS, PPP1R1B, STARD3, TCAP, PNMT, PERLD1, ERBB2, C17orf37, GRB7, IKZF3, ZPBP2, NEUROD2	rs2305480-T	NR	3E-8		1.25	[NR]	Illumina [266047]	N
875	chr17	38064404	38064405	rs11078927	21804549	Torgerson DG	2011-07-31	Nat Genet	Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.	Asthma	2,088 European ancestry cases, 1,612 African American and African Caribbean cases, 1,688 Hispanic cases	2,727 European ancestry cases, 2,147 African American and African Caribbean cases, 2,299 Hispanic cases	17q21.1	GSDMB	rs11078927-?	NR	2E-16				Affymetrix, Illumina [> 2000000] (imputed)	N
875	chr17	38066239	38066240	rs2290400	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	17q21.1	ORMDL3	rs2290400-?	0.50	6E-13		1.15	[1.08-1.22]	Affymetrix, Illumina [841622] (imputed)	N
875	chr17	38069948	38069949	rs7216389	17611496	Moffatt MF	2007-07-26	Nature	Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.	Asthma	994 European ancestry cases, 1,243 European ancestry controls	200 European ancestry cases, 2,120 European ancestry controls	17q21.1	ORMDL3	rs7216389-T	0.52	9E-11		1.45	[1.17-1.81]	Illumina [307328]	N
875	chr17	38074030	38074031	rs9303280	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	17q21.1	GSDMB, IKZF3	rs9303280-T	0.4805	9E-9		0.0687	[0.045-0.092] unit decrease	Illumina [2400000] (imputed)	N
875	chr17	38089343	38089344	rs4794820	22561531	Wan YI	2012-05-05	Thorax	Genome-wide association study to identify genetic determinants of severe asthma.	Asthma	933 European ancestry cases, 3,346 European ancestry controls	231 European ancestry cases, 1,345 European ancestry controls	17q21.1	ORMDL3	rs4794820-?	NR	1E-8		1.33	[1.20-1.45]	Illumina [6103628] (imputed)	N
875	chr17	38095173	38095174	rs6503525	21150878	Ferreira MA	2010-12-08	Eur J Hum Genet	Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.	Asthma	986 European ancestry cases, 1,846 European ancestry controls	391 European ancestry cases, 213 European ancestry controls	17q21.1	ORMDL3	rs6503525-C	0.43	5E-7		1.33	[NR]	Illumina [~ 2380000] (imputed)	N
875	chr17	38110688	38110689	rs17609240	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	17q21.1	GSDMA, ORMDL3	rs17609240-G	NR	9E-9	(WBC)	0.02	[0.01-0.03] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
875	chr17	38121992	38121993	rs3894194	24241537	Bonnelykke K	2013-11-17	Nat Genet	A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.	Asthma (childhood onset)	1,173 European ancestry cases, 2,511 European ancestry controls	395 European ancestry cases, 2,663 European ancestry controls, 63 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry cases, 917 Turkish, Surinamese, Dutch Antillean, Moroccan, Cape Verdian and other ancestry controls, 6,783 cases, 7,720 controls	17q21.1	GSDMA	rs3894194-A	NR	3E-21		1.59	[1.44-1.76]	Affymetrix, Illumina [124514]	N
875	chr17	38121992	38121993	rs3894194	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	17q21.1	GSDMA	rs3894194-A	0.45	5E-9		1.17	[1.11-1.23]	Illumina [582892]	N
875	chr17	38122679	38122680	rs7212938	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	17q21.1	GSDMA	rs7212938-G	0.46	4E-10		1.16	[1.11-1.20]	Illumina [up to 4972397] (imputed)	N
875	chr17	38128647	38128648	rs3859192	22037903	Crosslin DR	2011-10-30	Hum Genet	Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.	White blood cell count	12,046 European ancestry individuals, 1,487 African ancestry individuals	NA	17q21.1	GSDMA, PSMD3, MED24	rs3859192-A	0.47	2E-12	(EA)	0.14	[0.10-0.18] K/ul increase	Illumina [532566]	N
876	chr17	38143547	38143548	rs4065321	22037903	Crosslin DR	2011-10-30	Hum Genet	Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.	White blood cell count	12,046 European ancestry individuals, 1,487 African ancestry individuals	NA	17q21.1	GSDMA, PSMD3, MED24	rs4065321-G	0.44	1E-12		0.14	[0.10-0.18] K/ul increase	Illumina [532566]	N
876	chr17	38143547	38143548	rs4065321	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	17q21.1	CSF3, PSMD3, MED24, GSDMA	rs4065321-T	0.32	3E-14		0.094	[0.070-0.118] unit decrease	Illumina [561583]	N
876	chr17	38156711	38156712	rs4794822	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	17q21.1	PSMD3	rs4794822-C	0.586	3E-23	(EA)	0.028	[0.022-0.034] unit decrease	Illumina [NR] (imputed)	N
876	chr17	38156711	38156712	rs4794822	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	17q21.1	PSMD3	rs4794822-C	0.481	3E-12	(Japanese)	0.019	[0.013-0.025] unit decrease	Illumina [NR] (imputed)	N
876	chr17	38156711	38156712	rs4794822	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	17q21.1	PSMD3	rs4794822-?	NR	3E-19		0.0158	[0.012-0.019] unit increase	Illumina [NR] (imputed)	N
876	chr17	38156711	38156712	rs4794822	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	17q21.1	PSMD3	rs4794822-C	0.586	4E-23	(EA)	0.043	[0.035-0.051] unit decrease	Illumina [NR] (imputed)	N
876	chr17	38156711	38156712	rs4794822	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	17q21.1	PSMD3	rs4794822-C	0.481	7E-11	(Japanese)	0.032	[0.022-0.042] unit decrease	Illumina [NR] (imputed)	N
876	chr17	38156711	38156712	rs4794822	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	17q21.1	PSMD3	rs4794822-?	NR	9E-25		0.0312	[0.025-0.037] unit increase	Illumina [NR] (imputed)	N
876	chr17	38156711	38156712	rs4794822	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	17q21.1	CSF3, GSDMB, PSMD3, GSDM1, MED24, GSDMA, SNORD124, THRA, NR1D1, ORMDL3	rs4794822-T		9E-35	(WBC)	0.0218	[0.018-0.025] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
876	chr17	38156711	38156712	rs4794822	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	17q21.1	CSF3, PSMD3	rs4794822-T	0.52	4E-16	(neutrophil count)	0.093	[0.07-0.11] unit increase	Illumina [2178645] (imputed)	N
876	chr17	38156711	38156712	rs4794822	20172861	Okada Y	2010-02-18	Hum Mol Genet	Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count.	Neutrophil count	5,771 Japanese ancestry individuals	1,894 Japanese ancestry individuals	17q21.1	CSF3, PSMD3	rs4794822-C	0.48	6E-10		0.1	[0.07-0.13] unit decrease	Illumina [486091]	N
876	chr17	38166878	38166879	rs8078723	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	17q21.1	MED24, CSF3	rs8078723-C	0.626	3E-23	(EA)	0.043	[0.035-0.051] unit increase	Illumina [NR] (imputed)	N
876	chr17	38166878	38166879	rs8078723	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	17q21.1	CSF3, MED24	rs8078723-C	0.519	1E-10	(Japanese)	0.032	[0.022-0.042] unit increase	Illumina [NR] (imputed)	N
876	chr17	38166878	38166879	rs8078723	22788528	Kong M	2012-07-13	Int J Immunogenet	Genetic associations with C-reactive protein level and white blood cell count in the KARE study.	C-reactive protein and white blood cell count	8,722 individuals	NA	17q21.1	intergenic	rs8078723-C	0.468	3E-9	(WBC)	0.163	[NR] 10^3/ul increase	Affymetrix [1701735] (imputed)	N
876	chr17	38166878	38166879	rs8078723	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	17q21.1	CSF3, GSDMB, PSMD3, MED24, GSDMA, SNORD124, THRA, NR1D1, ORMDL3	rs8078723-T		2E-31	(Neutrophils)	0.0407	[0.034-0.048] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
876	chr17	38179491	38179492	rs2302777	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		17q21.1	NR	rs2302777-A	0.62	8E-7	(HD vs. controls)	1.31	[1.18-1.46]	Illumina [414804]	N
877	chr17	38393150	38393151	rs75041531	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	17q21.2	WIPF2	rs75041531-?	NR	9E-7				Affymetrix [5486770] (imputed)	N
879	chr17	38599171	38599172	rs584438	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	17q21.2	IGFBP4	rs584438-C	0.62	5E-12		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
880	chr17	38770285	38770286	rs7221109	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	17q21.2	intergenic	rs7221109-?	0.65	1E-9		1.05	[0.99-1.12]	Affymetrix, Illumina [841622] (imputed)	N
882	chr17	38957001	38957002	rs7219451	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	17q21.2	KRT28, KRT10	rs7219451-?		4E-6	(SI+M)	0.17	[0.052-0.288] unit decrease	Illumina [693128]	N
882	chr17	39039240	39039241	rs9912181	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	17q21.2	NR	rs9912181-?	NR	2E-6	(Latino)	0.6894	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
882	chr17	39046880	39046881	rs2315504	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	17q21.2	KRT23, KRT20	rs2315504-C	0.01	8E-6		1.9	[NR] cm increase	Affymetrix [334546]	N
884	chr17	39250638	39250639	rs4006360	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	17q21.2	NR	rs4006360-?	NR	4E-6		1.2328	[NR]	Affymetrix [722112]	N
889	chr17	39897263	39897264	rs6503659	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer (squamous cell)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	17q21.2	HAP1	rs6503659-A	0.13	3E-16		1.27	[1.20-1.34]	NR [NR]	N
889	chr17	39953960	39953961	rs191392302	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	17q21.2	LEPREL4	rs191392302-?	NR	3E-8				Affymetrix [5486770] (imputed)	N
890	chr17	39987129	39987130	rs4796712	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	17q21.2	NT5C3B	rs4796712-?	NR	3E-6		0.052	[NR] unit increase	Illumina [522636]	N
890	chr17	39987129	39987130	rs4796712	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	17q21.2	NT5C3B	rs4796712-?	NR	2E-6	(Males only)	0.055	[NR] unit increase	Illumina [522636]	N
890	chr17	39987129	39987130	rs4796712	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	17q21.2	NT5C3B	rs4796712-?	NR	2E-6	(FEV1/FVC < 80%)	0.057	[NR] unit increase	Illumina [522636]	N
893	chr17	40481528	40481529	rs2293152	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	17q21.2	STAT3	rs2293152-C	0.62	4E-8		1.22	[NR]	Affymetrix, Illumina [2529394]	N
893	chr17	40499532	40499533	rs6503695	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q21.2	NR	rs6503695-?	NR	1E-14	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
894	chr17	40507979	40507980	rs9891119	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	17q21.2	STAT3	rs9891119-A	NR	2E-15		1.37	[1.27-1.48]	Illumina [4929034] (imputed)	N
894	chr17	40507979	40507980	rs9891119	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	17q21.2	STAT3	rs9891119-C	NR	2E-10		1.11	[1.09-1.12]	Illumina [465434]	N
894	chr17	40514200	40514201	rs744166	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q21.2	NR	rs744166-?	NR	1E-22	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
894	chr17	40514200	40514201	rs744166	20159113	Jakkula E	2010-02-12	Am J Hum Genet	Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.	Multiple sclerosis	68 Finland founder cases, 136 Finland founder controls	83 Finland founder cases, 365 Finland founder controls 3,285 European ancestry cases, 6,379 European ancestry controls, 1,202 cases, 3,399 controls	17q21.2	STAT3	rs744166-G	0.41	3E-10		1.15	[1.10-1.20]	Illumina [297343]	N
894	chr17	40514200	40514201	rs744166	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	17q21.2	STAT3	rs744166-A	0.57	7E-12		1.18	[NR]	Affymetrix, Illumina [635547] (imputed)	N
894	chr17	40527543	40527544	rs12942547	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q21.2	NR	rs12942547-A	0.58	7E-11	(EA)	1.0883672		Affymetrix, Illumina [~ 9000000] (imputed)	N
894	chr17	40527543	40527544	rs12942547	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q21.2	NR	rs12942547-G	0.58	1E-16	(EA)	1.1087568		Affymetrix, Illumina [~ 9000000] (imputed)	N
894	chr17	40527543	40527544	rs12942547	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	17q21.2	STAT3, STAT5B, STAT5A	rs12942547-A	0.58	6E-22		1.103	[1.072-1.136]	Affymetrix, Illumina [1230000] (imputed)	N
894	chr17	40542209	40542210	rs4796793	25865352	Schaarschmidt H	2015-04-10	J Allergy Clin Immunol	A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.	Atopic dermatitis	870 European ancestry cases, 5,293 European ancestry controls	1,383  European ancestry cases, 1,728 European ancestry controls	17q21.2	NR	rs4796793-C	0.748	8E-6		1.08	[NR]	Affymetrix [1623390] (imputed)	N
894	chr17	40565034	40565035	rs56364076	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	17q21.2	PTRF, STAT3	rs56364076-C	0.313	6E-7		1.16	[1.09-1.23]	Illumina [up to 4778154] (imputed)	N
894	chr17	40570771	40570772	rs11871801	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	17q21.2	STAT3, MLX	rs11871801-A	0.756	3E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [953241] (imputed)	N
898	chr17	41119568	41119569	rs188757965	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	17q21.31	NR	rs188757965-?	NR	9E-6				Affymetrix [5486770] (imputed)	N
903	chr17	41798823	41798824	rs4792909	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	17q21.31	SOST	rs4792909-T	0.37	2E-11	(FNBMD)	0.04	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
903	chr17	41807330	41807331	rs1513670	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (hip)	6,865 European ancestry individuals	8,510 European ancestry individuals	17q21.31	SOST	rs1513670-A	0.37	2E-8		0.08	[0.05-0.10] s.d. decrease	Illumina [305051]	N
904	chr17	41840848	41840849	rs77697917	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	17q21.31	SOST, DUSP3	rs77697917-T	0.03	8E-13		0.163	[0.12-0.21] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
904	chr17	41840848	41840849	rs77697917	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	17q21.31	SOST, DUSP3	rs77697917-C	0.97	1E-14		0.176	[0.13-0.22] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
904	chr17	41878165	41878166	rs8077889	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	17q21.31	MPP3	rs8077889-C	0.22	1E-8		0.025	[NR] mg/dL increase	NR [NR] (imputed)	N
905	chr17	41965199	41965200	rs231513	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	17q21.31	MPP2	rs231513-C	0.1384	8E-6	(Phonemic Fluency)	4.3471	[2.45-6.24] unit increase	Affymetrix [> 371951] (imputed)	N
905	chr17	42064986	42064987	rs9895585	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	17q21.31	PYY	rs9895585-?	NR	9E-6				Affymetrix, Illumina [~ 1300000]	N
906	chr17	42193184	42193185	rs228769	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	17q21.31	HDAC5	rs228769-G	0.20	4E-6		0.07	[0.04-0.10] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
906	chr17	42193184	42193185	rs228769	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	17q21.31	HDAC5	rs228769-G	0.20	2E-8		0.08	[0.05-0.11] s.d. increase	Affymetrix, Illumina [2543686] (imputed)	N
907	chr17	42225546	42225547	rs227584	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	17q21.31	C17orf53	rs227584-A	0.7	3E-24	(FNBMD)	0.06	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
907	chr17	42225546	42225547	rs227584	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (hip)	6,865 European ancestry individuals	8,510 European ancestry individuals	17q21.31	C17orf53	rs227584-T	0.73	9E-7		0.07	[0.04-0.10] s.d. decrease	Illumina [305051]	N
907	chr17	42241928	42241929	rs12602486	24244560	Chen P	2013-11-07	PLoS One	A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.	Glycated hemoglobin levels	3,427 Chinese ancestry individuals, 1,735 Malay ancestry individuals, 1,520 Asian Indian ancestry individuals	NA	17q21.31	G6PC3	rs12602486-G	0.03	1E-24	(HbA1c, Malay)	0.362	[0.29-0.43] unit decrease	Illumina [up to 2400000] (imputed)	N
907	chr17	42330728	42330729	rs5023	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q21.31	SLC4A1	rs5023-G	0.046	1E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
908	chr17	42442343	42442344	rs708382	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	17q21.31	FAM171A2, ITGA2B	rs708382-T	NR	2E-8		2.439	[1.59-3.28] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
912	chr17	42989087	42989088	rs2289681	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	17q21.31	GFAP	rs2289681-?	NR	5E-6		0.038	[0.022-0.054] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
913	chr17	43038208	43038209	rs1007190	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	17q21.31	C1QL1	rs1007190-T	0.13	2E-6	(IGF2-DMR)			Illumina [515966]	N
913	chr17	43059070	43059071	rs962888	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	17q21.31	C1QL1	rs962888-G	0.71	2E-7	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
913	chr17	43059070	43059071	rs962888	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	17q21.31	C1QL1	rs962888-G	0.71	1E-6				Affymetrix, Illumina [14227402] (imputed)	N
914	chr17	43208120	43208121	rs12946454	19430483	Newton-Cheh C	2009-05-10	Nat Genet	Genome-wide association study identifies eight loci associated with blood pressure.	Systolic blood pressure	34,433 European ancestry individuals	Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals	17q21.31	ACBD4, PLCD3, HEXIM1, HEXIM2	rs12946454-T	0.28	1E-8		0.57	[0.37-0.77] mm Hg increase	Affymetrix, Illumina [2497993] (imputed)	N
914	chr17	43212962	43212963	rs2291447	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences	9,617 European ancestry individuals	NA	17q21.31	ACBD4	rs2291447-T	NR	2E-6	(Risk)	0.114	[0.067-0.161] unit increase	Illumina [628922]	N
914	chr17	43216280	43216281	rs4986172	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	17q21.31	ACBD4	rs4986172-T	0.44	3E-6		0.025	[0.013-0.037] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
914	chr17	43216280	43216281	rs4986172	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17q21.31	ACBD4	rs4986172-T	0.346	8E-27		0.034	[0.028-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
914	chr17	43216280	43216281	rs4986172	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q21.31	ACBD4	rs4986172-T	0.35	2E-16		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
916	chr17	43403004	43403005	rs4792814	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	17q21.31	MAP3K14	rs4792814-G	NR	3E-6		1.08	[1.06-1.09]	Illumina [465434]	N
916	chr17	43513440	43513441	rs11012	20070850	Edwards TL	2010-01-13	Ann Hum Genet	Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.	Parkinson's disease	1,752 European ancestry cases, 1,745 European ancestry controls	NA	17q21.31	MAPT, PLEKHM1, IMP5	rs11012-T	NR	6E-8		1.43	[1.27-1.61]	Illumina [495715] (imputed)	N
917	chr17	43516401	43516402	rs17631303	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Ovarian cancer in BRCA1 mutation carriers	683 European ancestry cases, 2,044 European ancestry controls	1,706 European ancestry cases, 10,258 European ancestry controls	17q21.31	intergenic	rs17631303-G	0.19	1E-8		1.27	[1.17-1.38]	Illumina [2568349] (imputed)	N
917	chr17	43516401	43516402	rs17631303	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Ovarian cancer in BRCA1 mutation carriers	683 European ancestry cases, 2,044 European ancestry controls	1,706 European ancestry cases, 10,258 European ancestry controls	17q21.31	NR	rs17631303-?	NR	1E-8				Illumina [2568349] (imputed)	N
918	chr17	43714849	43714850	rs2942168	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	17q21.31	MAPT	rs2942168-G	0.78	1E-28		1.27	[1.23-1.31]	Illumina [7689524] (imputed)	N
918	chr17	43719142	43719143	rs393152	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 3,111 controls	67 cases, 457 controls	17q21.31	MAPT	rs393152-?	NR	1E-12		3.7	[NR]	Illumina [533898] (imputed)	N
918	chr17	43719142	43719143	rs393152	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	17q21.31	MAPT, C17orf69, KIAA1267, LOC644246	rs393152-A	0.82	2E-16		1.3	[NR]	Illumina [463185]	N
919	chr17	43795432	43795433	rs11655470	22504419	Taal HR	2012-04-15	Nat Genet	Common variants at 12q15 and 12q24 are associated with infant head circumference.	Head circumference (infant)	10,768 European ancestry infants	8,321 European ancestry infants	17q21.31	MAPT, CRHR1	rs11655470-T	0.49	4E-6		0.048	[0.028-0.068] SD increase	Affymetrix, Illumina [~ 2400000] (imputed)	N
919	chr17	43805193	43805194	rs9303521	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	17q21.31	CRHR1	rs9303521-T	0.46	1E-8		0.07	[0.05-0.09] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
919	chr17	43805193	43805194	rs9303521	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	17q21.31	CRHR1	rs9303521-T	0.46	4E-6		0.06	[0.04-0.07] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
919	chr17	43824359	43824360	rs7207400	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	17q21.31	CRHR1	rs7207400-T	0.75	5E-6		1.1363636	[1.08-1.2]	NR [NR]	N
919	chr17	43893715	43893716	rs8072451	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	17q21.31	MAPT, GRN, CRHR1, STH	rs8072451-?	NR	1E-8	(Intracranial volume, EA)	14489.99	[9539.28-19440.70] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
919	chr17	43906827	43906828	rs17689882	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	17q21.31	CRHR1	rs17689882-A	0.22	8E-9	(Intracranial volume, EA)	13460.47	[8891.61-18029.33] mm3 decrease	Affymetrix, Illumina [NR] (imputed)	N
920	chr17	43923682	43923683	rs12185268	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 1,986 controls	NA	17q21.31	MAPT	rs12185268-?	NR	1E-9		3.46	[2.27-5.28]	Illumina [533898] (imputed)	N
920	chr17	43923682	43923683	rs12185268	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	17q21.31	MAPT	rs12185268-A	0.79	3E-14		1.3	[1.22-1.39]	Illumina [522782]	N
920	chr17	43924218	43924219	rs12373124	22693459	Li R	2012-05-31	PLoS Genet	Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.	Male-pattern baldness	3,891 European ancestry cases, 8,915 European ancestry controls	NA	17q21.31	intergenic	rs12373124-T	0.438	5E-10		1.33	[1.21-1.45]	Affymetrix, Illumina [2391230] (imputed)	N
920	chr17	43925296	43925297	rs17690703	24429156	Noth I	2013-04-17	Lancet Respir Med	Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.	Idiopathic pulmonary fibrosis	542 European ancestry cases, 542 European ancestry controls	868 European ancestry cases, 1,389 European ancestry controls	17q21.31	SPPL2C, KANSL1, MAPT, CRHR1, STH	rs17690703-C	0.76	6E-9		1.43	[1.27-1.61]	Affymetrix [10601812] (imputed)	N
920	chr17	43977826	43977827	rs1864325	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	17q21.31	MAPT	rs1864325-T	0.22	5E-11	(LSBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
920	chr17	43994647	43994648	rs17649553	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	17q21.31	MAPT	rs17649553-C	0.774	2E-48		1.3	[1.27-1.34]	Illumina [7893274] (imputed)	N
920	chr17	44019711	44019712	rs242557	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	17q21.31	MAPT	rs242557-?	0.35	9E-18	(controlling for rs8070723)	1.43	[1.32-1.54]	Illumina [531451]	N
921	chr17	44056766	44056767	rs1981997	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	17q21.31	MAPT	rs1981997-G	0.77	9E-14		1.41	[1.28-1.56]	Illumina [439828]	N
921	chr17	44081063	44081064	rs8070723	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	17q21.31	MAPT	rs8070723-?	0.23	2E-118		5.11	[4.43-5.91]	Illumina [531451]	N
921	chr17	44081063	44081064	rs8070723	21044948	Spencer CC	2010-11-02	Hum Mol Genet	Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.	Parkinson's disease	1,705 European ancestry cases, 5,175 European ancestry controls	1,039 European ancestry cases, 1,984 European ancestry controls	17q21.31	MAPT	rs8070723-?	0.76	7E-12		1.3	[1.19-1.43]	Illumina [532616]	N
922	chr17	44187256	44187257	rs9303525	22504418	Ikram MA	2012-04-15	Nat Genet	Common variants at 6q22 and 17q21 are associated with intracranial volume.	Intracranial volume	8,175 European ancestry individuals	1,752 European ancestry individuals	17q21.31	MAPT, GRN, CRHR1, STH	rs9303525-G	0.22	8E-15		14.9	[NR] ml decrease	Affymetrix, Illumina [2229753] (imputed)	N
922	chr17	44187491	44187492	rs17577094	24842889	Vacic V	2014-05-19	Hum Mol Genet	Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.	Parkinson's disease	1,130 Ashkenazi Jewish cases, 2,611 Ashkenazi Jewish controls	306 Ashkenazi Jewish cases, 2,583 Ashkenazi Jewish controls	17q21.31	MAPT	rs17577094-?	0.74	8E-9		1.56	[1.39-1.79]	Affymetrix, Illumina [1069161] (imputed)	N
923	chr17	44334706	44334707	rs2458179	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	17q21.31	intergenic	rs2458179-?	NR	7E-6	(SF9)			Affymetrix [5476100] (imputed)	N
923	chr17	44353221	44353222	rs2732703	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	17q21.31	KANSL1, LRRC27A, MAPT	rs2732703-T	0.87	6E-9		1.369863	[1.23-1.54]	NR [NR]	N
926	chr17	44788309	44788310	rs183211	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	17q21.31	PLEKHM1	rs183211-A	0.24	2E-13		1.11	[1.07-1.16]	Illumina [up to 10962898] (imputed)	N
926	chr17	44788309	44788310	rs183211	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Ovarian cancer in BRCA1 mutation carriers	683 European ancestry cases, 2,044 European ancestry controls	1,706 European ancestry cases, 10,258 European ancestry controls	17q21.31	intergenic	rs183211-A	0.23	3E-8		1.25	[1.16-1.35]	Illumina [2568349] (imputed)	N
926	chr17	44788309	44788310	rs183211	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Ovarian cancer in BRCA1 mutation carriers	683 European ancestry cases, 2,044 European ancestry controls	1,706 European ancestry cases, 10,258 European ancestry controls	17q21.31	NR	rs183211-?	NR	3E-8				Illumina [2568349] (imputed)	N
926	chr17	44788309	44788310	rs183211	21812969	Liu X	2011-08-03	BMC Med Genet	Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population.	Parkinson's disease	268 Ashkenazi Jewish cases, 178 Ashkenazi Jewish controls	1,782 European ancestry cases, 1,658 European ancestry controls	17q21.31	NSF	rs183211-T	0.24	3E-7				Illumina [525124]	N
927	chr17	44828930	44828931	rs199533	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	17q21.31	MAPT	rs199533-C	0.78	1E-6		1.35	[1.19-1.52]	Illumina [811597]	N
927	chr17	44828930	44828931	rs199533	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	17q21.31	NSF	rs199533-C	0.83	1E-14		1.28	[NR]	Illumina [463185]	N
927	chr17	44856640	44856641	rs199515	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	17q21.31	WNT3	rs199515-?	NR	3E-17		1.32	[NR]	Illumina [2500000] (imputed)	N
927	chr17	44859143	44859144	rs415430	21812969	Liu X	2011-08-03	BMC Med Genet	Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population.	Parkinson's disease	268 Ashkenazi Jewish cases, 178 Ashkenazi Jewish controls	1,782 European ancestry cases, 1,658 European ancestry controls	17q21.31	WNT3	rs415430-T	0.786	7E-7				Illumina [525124]	N
927	chr17	44865438	44865439	rs2074404	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	17q21.31	intergenic	rs2074404-?	0.75	1E-6		1.11	[1.06-1.16]	Illumina [292387]	N
927	chr17	44865497	44865498	rs199499	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	17q21.31	WNT3	rs199499-C	0.81	6E-6		1.1627907	[1.09-1.23]	NR [NR]	N
927	chr17	44865602	44865603	rs199498	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	17q21.31	MAPT	rs199498-T	0.764	8E-7	(Familial)	1.69	[1.57-1.81]	Illumina [811597]	N
927	chr17	44865602	44865603	rs199498	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	17q21.31	MAPT	rs199498-T	0.764	2E-6		1.35	[1.25-1.45]	Illumina [811597]	N
927	chr17	44949099	44949100	rs11079740	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	17q21.32	WNT9B	rs11079740-?	NR	9E-6		1.1	[NR]	Affymetrix [NR]	N
928	chr17	45013270	45013271	rs17608766	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	17q21.32	GOSR2	rs17608766-T	0.86	1E-10		0.556	[NR] mmHg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
928	chr17	45013270	45013271	rs17608766	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	17q21.32	GOSR2	rs17608766-T	0.91	6E-15	(Pulse Pressure)	0.534	[0.40-0.67] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
928	chr17	45013270	45013271	rs17608766	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	17q21.32	GOSR2	rs17608766-T	0.91	2E-7	(Mean Arterial Pressure)	0.364	[0.23-0.50] mmHg decrease	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
928	chr17	45013270	45013271	rs17608766	21076409	Sotoodehnia N	2010-11-14	Nat Genet	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	QRS duration	39,717 European ancestry individuals, 690 Orcadian individuals	7,170 European ancestry individuals	17q21.32	GOSR2	rs17608766-C	0.16	5E-10		0.53	[0.33-0.73] ms increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
929	chr17	45195849	45195850	rs11079757	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Erythema nodosum in inflammatory bowel disease	103 European ancestry cases, 5,653 European ancestry controls	NA	17q21.32	JTGB3, MYL4, CCD27	rs11079757-A	NR	8E-6		2.2	[1.60-3.10]	Illumina [2017629] (imputed)	N
930	chr17	45309692	45309693	rs11079764	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q21.32	NR	rs11079764-G	0.51337114610245	5E-6	(IGP63)	0.1833	[0.1-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
930	chr17	45323124	45323125	rs4144743	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q21.32	ITGB3	rs4144743-C	0.164	5E-6		0.022	[0.013-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
930	chr17	45323124	45323125	rs4144743	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q21.32	ITGB3	rs4144743-C	0.162	5E-6	(EA)	0.023	[0.013-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
931	chr17	45351117	45351118	rs7209700	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q21.32	NR	rs7209700-G	0.308782806263982	4E-7	(IGP59)	0.1681	[0.1-0.23] unit decrease	Illumina [~ 2500000] (imputed)	N
931	chr17	45425114	45425115	rs7206971	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	17q21.32	OSBPL7	rs7206971-A	0.51	4E-10		0.038	[0.026-0.05] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
931	chr17	45425114	45425115	rs7206971	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	17q21.32	OSBPL7	rs7206971-A	0.51	4E-13		0.043	[0.031-0.055] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
931	chr17	45425114	45425115	rs7206971	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	17q21.32	OSBPL7	rs7206971-A	0.49	3E-7		0.029	[NR] unit increase	NR [NR] (imputed)	N
931	chr17	45425114	45425115	rs7206971	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	17q21.32	OSBPL7	rs7206971-A	0.49	1E-7		0.03	[NR] unit increase	NR [NR] (imputed)	N
931	chr17	45425114	45425115	rs7206971	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	17q21.32	OSBPL7	rs7206971-T	0.35	4E-9		0.87	[0.52-1.22] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
931	chr17	45425114	45425115	rs7206971	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	17q21.32	OSBPL7	rs7206971-A	0.49	1E-8		1.01	[0.62-1.4] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
932	chr17	45607571	45607572	rs2935183	24234648	Goris A	2013-11-13	Hum Mol Genet	No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.	Multiple sclerosis or amyotrophic lateral sclerosis	4,088 Multiple sclerosis cases, 3,762 Amyotrophic lateralsclerosis cases, 12,030 controls	NA	17q21.32	NPEPPS	rs2935183-?	NR	5E-7				NR [5440446] (imputed)	N
933	chr17	45674686	45674687	rs8072100	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	17q21.32	ITGB3, C17orf57, TBKBP1, KPNB1, NPEPPS	rs8072100-A	NR	4E-7		5.059	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
933	chr17	45732604	45732605	rs11870935	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	17q21.32	KPNB1	rs11870935-G	0.47	2E-8	(EA)	0.015	[0.0091-0.0209] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
933	chr17	45732604	45732605	rs11870935	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	17q21.32	KPNB1	rs11870935-G	0.47	2E-8		0.013	[0.0091-0.0169] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
934	chr17	45768835	45768836	rs8070463	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	17q21.32	KPNB1, TBX21, TBKBP1	rs8070463-T	0.50	1E-7		1.15	[NR]	Affymetrix, Illumina [2529394]	N
934	chr17	45768835	45768836	rs8070463	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	17q21.32	TBKBP1	rs8070463-C	0.51	5E-8				Illumina [2223620] (imputed)	N
934	chr17	45830947	45830948	rs12950390	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q21.32	NR	rs12950390-C	0.252525314541387	3E-6	(IGP59)	0.1687	[0.098-0.239] unit decrease	Illumina [~ 2500000] (imputed)	N
934	chr17	45835277	45835278	rs11651000	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q21.32	NR	rs11651000-G	0.840287136139722	8E-6	(IGP11)	0.1911	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
934	chr17	45835277	45835278	rs11651000	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q21.32	NR	rs11651000-G	0.840144331241596	8E-6	(IGP51)	0.1906	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
934	chr17	45835277	45835278	rs11651000	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q21.32	NR	rs11651000-G	0.83992863016158	9E-6	(IGP46)	0.1897	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
935	chr17	45930538	45930539	rs4794202	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		17q21.32	OSBPL7, SP6, MRPL10	rs4794202-?	0.08	8E-8		0.19	unit decrease	Illumina [NR] (imputed)	N
936	chr17	46047655	46047656	rs2597167	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	17q21.32	CDK5RAP3	rs2597167-C		6E-6		0.14	[0.08-0.2] unit decrease	Affymetrix [~ 2500000] (imputed)	N
936	chr17	46123003	46123004	rs72823592	22949513	EPICURE Consortium	2012-09-04	Hum Mol Genet	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32	Epilepsy (generalized)	702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls	347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls	17q21.32	SNX11, SKAP1, CDK5RAP3, PNPO, ATAD4, COPZ2, hsa-mir-152, NFE2L1, CBX1	rs72823592-G	0.753	9E-9	(All GGE)	1.3	[1.20-1.41]	Affymetrix [4560000] (imputed)	N
936	chr17	46123931	46123932	rs3764400	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	17q21.32	CBX1	rs3764400-C	0.14	4E-7				Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
938	chr17	46292922	46292923	rs6504108	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q21.32	SKAP1	rs6504108-C	0.285	9E-6	(EA, women)	0.019	[0.011-0.028] kg/m2 increase	Affymetrix, Illumina [2550021]	N
938	chr17	46292922	46292923	rs6504108	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q21.32	SKAP1	rs6504108-C	0.284	4E-7	(EA)	0.017	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
938	chr17	46292922	46292923	rs6504108	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q21.32	SKAP1	rs6504108-C	0.284	1E-7		0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
938	chr17	46297514	46297515	rs79169085	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17q21.32	NR	rs79169085-C	NR	4E-6		1.2195122	[NR]	Illumina [7158791] (imputed)	N
938	chr17	46357119	46357120	rs2084881	20852632	Goode EL	2010-09-19	Nat Genet	A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.	Ovarian cancer	1,768 European ancestry cases, 2,354 European ancestry controls	8,709 European ancestry cases, 51,764 European ancestry controls	17q21.32	NR	rs2084881-?	NR	2E-6		1.12	[1.07-1.18]	Illumina [2056878] (imputed)	N
939	chr17	46411499	46411500	rs9303542	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	17q21.32	SKAP1	rs9303542-G	0.27	5E-15		1.14	[1.10-1.19]	Illumina [up to 10962898] (imputed)	N
939	chr17	46411499	46411500	rs9303542	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	17q21.32	NR	rs9303542-?	0.27	6E-9	(All invasive)	1.12	[1.08-1.16]	Illumina [2508744] (imputed)	N
939	chr17	46411499	46411500	rs9303542	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	17q21.32	NR	rs9303542-?	0.27	3E-10	(Serious invasive)	1.14	[1.09-1.18]	Illumina [2508744] (imputed)	N
939	chr17	46411499	46411500	rs9303542	20852632	Goode EL	2010-09-19	Nat Genet	A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.	Ovarian cancer	1,768 European ancestry cases, 2,354 European ancestry controls	8,709 European ancestry cases, 51,764 European ancestry controls	17q21.32	SKAP1	rs9303542-G	NR	1E-6		1.11	[1.06-1.16]	Illumina [2056878] (imputed)	N
940	chr17	46617018	46617019	rs6504340	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (number of teeth)	5,752 European ancestry related individuals	NA	17q21.32	HOXB1, HOXB2	rs6504340-G	0.22	6E-7		0.44	% variance	Illumina [300766]	N
940	chr17	46644676	46644677	rs9906289	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	17q21.32	HOXB	rs9906289-T	0.046	6E-11		0.083	[0.058-0.108] unit increase	Illumina [7428049] (imputed)	N
941	chr17	46669429	46669430	rs9299	22484627	Bradfield JP	2012-04-08	Nat Genet	A genome-wide association meta-analysis identifies new childhood obesity loci.	Obesity	5,530 European ancestry cases, 8,318 European ancestry controls	2,214 European ancestry cases, 2,674 European ancestry controls	17q21.32	HOXB5	rs9299-?	NR	4E-9		1.144	[1.094-1.196]	Affymetrix, Illumina [2700000] (imputed)	N
941	chr17	46720564	46720565	rs2326017	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in non-asthmatics	6,025 European ancestry children, 567 children,  6,334 European ancestry adult individuals, 2,050 adult individuals	NA	17q21.32	intergenic	rs2326017-T	0.28	2E-6	(Children)			Illumina [up to 527642]	N
941	chr17	46720564	46720565	rs2326017	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	17q21.32	AC103702.3	rs2326017-?	0.2985	3E-7	(SWM strategy)			Illumina [475971]	N
941	chr17	46738882	46738883	rs9890514	22550155	Edelstein LC	2012-05-01	Circulation	Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress.	Platelet thrombus formation	125 European ancestry individuals, 116 African American individuals	NA	17q21.32	intergenic	rs9890514-?	NR	4E-6	(AA)	0.012391	[0.0071-0.0176] unit increase	Illumina [at least 620901]	N
941	chr17	46749790	46749791	rs8074700	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in non-asthmatics	6,025 European ancestry children, 567 children,  6,334 European ancestry adult individuals, 2,050 adult individuals	NA	17q21.32	intergenic	rs8074700-A	0.26	1E-6	(Children)			Illumina [up to 527642]	N
941	chr17	46757574	46757575	rs3096644	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	17q21.32	LOC729146	rs3096644-G		6E-6		0.08	[0.04-0.11] unit increase	Affymetrix [~ 2500000] (imputed)	N
942	chr17	46840540	46840541	rs7219021	24280982	Ruderfer DM	2013-11-26	Mol Psychiatry	Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.	Schizophrenia or bipolar disorder	Up to 4,528 European ancestry schizophrenia cases, up to 4,841 schizophrenia cases, up to 7,362 European ancestry bipolar disorder cases, up to 3,048 bipolar disorder cases, up to 11,637 European ancestry controls, up to 7,786 controls	NA	17q21.32	NR	rs7219021-?		1E-7	(SCZ vs. BP)			Affymetrix, Illumina [~ 1100000] (imputed)	N
943	chr17	46974733	46974734	rs318095	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17q21.32	ATP5G1	rs318095-T	0.463	2E-16		0.024	[0.018-0.03] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
943	chr17	46988596	46988597	rs46522	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	17q21.32	SNF8, GIP, UBE2Z, ATP5G1	rs46522-T	0.53	2E-8		1.06	[1.04-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
944	chr17	47080430	47080431	rs1994969	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		17q21.32	IGF2BP1	rs1994969-T	NR	2E-14		0.027	[-0.02592-0.07992] unit decrease	Illumina [2446724] (imputed)	N
944	chr17	47080430	47080431	rs1994969	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		17q21.32	IGF2BP1	rs1994969-T	NR	7E-16		0.19	[0.14-0.24] unit increase	Illumina [2446724] (imputed)	N
944	chr17	47084710	47084711	rs9674544	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (time to first tooth eruption)	5,919 European ancestry related individuals	NA	17q21.32	IGF2BP1	rs9674544-G	0.46	8E-7		0.25	[NR] % variance	Illumina [300766]	N
944	chr17	47084710	47084711	rs9674544	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (number of teeth)	5,752 European ancestry related individuals	NA	17q21.32	IGF2BP1	rs9674544-G	0.46	2E-8		0.27	% variance	Illumina [300766]	N
945	chr17	47290794	47290795	rs627386	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q21.32	NR	rs627386-G	0.974019461024499	4E-6	(IGP9)	0.5473	[0.32-0.78] unit increase	Illumina [~ 2500000] (imputed)	N
946	chr17	47345185	47345186	rs11650494	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	17q21.32	NGFR, PHB, PHOSPHO1, HOXB13, PRAC, SPOP, ZNF652, ABI3, B4GALNT2, FLJ40194, GNGT2, IGF2BP1	rs11650494-A	0.08	2E-9		1.15	[1.09-1.22]	Illumina [~ 2600000] (imputed)	N
946	chr17	47390013	47390014	rs2072153	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q21.33	ZNF652	rs2072153-C	0.3	4E-8		0.021	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
946	chr17	47402806	47402807	rs12940887	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	17q21.33	ZNF652	rs12940887-T	0.42	2E-7	(Mean Arterial Pressure)	0.252	[0.16-0.35] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
946	chr17	47436748	47436749	rs7210100	21602798	Haiman CA	2011-05-22	Nat Genet	Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21.	Prostate cancer	3,425 African American cases, 3,290 African American controls	1,500 African American/Afro-Caribbean cases, 1,908 African American/Afro-Caribbean controls, 344 Sub-Saharan African ancestry cases, 1,361 Sub-Saharan African ancestry controls	17q21.33	ZNF652	rs7210100-?	0.05	3E-13		1.51	[1.35-1.69]	Illumina [10471986]	N
946	chr17	47440465	47440466	rs16948048	19430483	Newton-Cheh C	2009-05-10	Nat Genet	Genome-wide association study identifies eight loci associated with blood pressure.	Diastolic blood pressure	34,433 European ancestry individuals	Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals	17q21.33	PHB, ZNF652	rs16948048-G	0.39	5E-9		0.31	[0.21-0.41] mm Hg increase	Affymetrix, Illumina [2497993] (imputed)	N
946	chr17	47445750	47445751	rs2411984	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17q21.33	ZNF652	rs2411984-A	0.28	4E-14	(Men + Women)	0.033	[0.024-0.042] umol/L increase	Affymetrix, Illumina [2543887] (imputed)	N
946	chr17	47445750	47445751	rs2411984	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	17q21.33	ZNF652	rs2411984-A	0.28	2E-10	(Men)	0.034	[0.023-0.045] umol/L increase	Affymetrix, Illumina [2543887] (imputed)	N
947	chr17	47564011	47564012	rs1035050	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	17q21.33	NR	rs1035050-T	0.40	9E-6		1.17	[1.09-1.25]	Affymetrix, Illumina [2366197] (imputed)	N
947	chr17	47566311	47566312	rs16948200	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	17q21.33	NGFR	rs16948200-A		2E-8	(AA)			Illumina [NR]	N
949	chr17	47818820	47818821	rs9898058	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Milk allergy	291 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 614 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	NA	17q21.33	FAM117A	rs9898058-?	NR	1E-6				Illumina [6459842] (imputed)	N
951	chr17	47978985	47978986	rs271674	24578207	Opherk C	2014-02-27	Stroke	Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.	White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy	466 European ancestry individuals	NA	17q21.33	NR	rs271674-T	NR	6E-6		0.0267	[NR] unit increase	Affymetrix [583499]	N
953	chr17	48274290	48274291	rs2075555	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Breast cancer	58 cases, 665 controls	NA	17q21.33	COL1A1	rs2075555-?	NR	8E-8				Affymetrix [70897]	N
953	chr17	48289069	48289070	rs2586502	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	17q21.33	COL1A1	rs2586502-?	NR	1E-6				Affymetrix, Illumina [~ 1300000]	N
955	chr17	48591208	48591209	rs6504663	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	17q21.33	MYCBPAP	rs6504663-A	0.76	9E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
956	chr17	48692081	48692082	rs117964204	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		17q21.33	CACNA1G	rs117964204-?	0.04	1E-9		0.28	unit decrease	Illumina [NR] (imputed)	N
960	chr17	49244746	49244747	rs4605213	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q21.33	NME2	rs4605213-C	0.34	3E-8		0.021	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
963	chr17	49613784	49613785	rs9635759	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	17q21.33	CA10	rs9635759-A	0.32	2E-24		0.05	[0.04-0.06] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
963	chr17	49613784	49613785	rs9635759	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	17q21.33	CA10	rs9635759-A	0.32	7E-13		3.0	[2.22-3.78] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
968	chr17	50204455	50204456	rs1503059	25317112	Oh S	2014-09-30	Genomics Inform	Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.	Gastritis	977 Korean ancestry female cases, 3,622 Korean ancestry female controls, 804 Korean ancestry male cases, 3,335 Korean ancestry male controls	NA	17q22	CA10	rs1503059-?	NR	2E-6	(Females)	1.2764871	[NR]	NR [349184]	N
968	chr17	50293637	50293638	rs16951120	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	17q22	CA10	rs16951120-T	0.15	6E-6	(AA-glucose response)	4.49	[2.55-6.43] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
975	chr17	51237940	51237941	rs8073783	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	17q22	intergenic	rs8073783-C	0.49	8E-6	(int, MW)	1.76	[NR] unit decrease	Perlegen [429901]	N
985	chr17	52548124	52548125	rs6504909	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q22	TOM1L1	rs6504909-G	0.166	3E-6	(Urinary free dopamine )	0.05	[NR] nmol/d increase	Illumina [899892]	N
989	chr17	53056470	53056471	rs6504950	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	17q22	COX11	rs6504950-G	0.72	2E-13		1.06	[1.04-1.09]	Affymetrix, Illumina [~ 2600000] (imputed)	N
991	chr17	53230721	53230722	rs244293	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	17q22	STXBP4	rs244293-G	0.6	4E-11		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
992	chr17	53356125	53356126	rs4617927	24236485	Cornejo-Garcia JA	2013-11-01	Pharmacogenomics	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	112 European ancestry cases, 124 European ancestry controls, 120 Han Chinese ancestry cases, 101 Han Chinese ancestry controls	NA	17q22	HLF	rs4617927-?		4E-6				Affymetrix [up to 644046]	N
992	chr17	53364787	53364788	rs7224610	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	17q22	HLF	rs7224610-A	0.58	5E-17		0.042	[0.032-0.052] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
992	chr17	53404724	53404725	rs11079160	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	17q22	HLF	rs11079160-T	0.17	6E-6		0.09	[0.051-0.129] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
993	chr17	53519843	53519844	rs11653011	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q22	MMD	rs11653011-G	0.473	3E-6	(Urinary free dopamine: creatinine)	0.04	[NR] unit increase	Illumina [899892]	N
995	chr17	53757786	53757787	rs1549519	22021425	Carty CL	2011-10-21	Hum Mol Genet	Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).	Height	8,149 African American female individuals	Up to 20,809 African American and African ancestry individuals	17q22	TMEM100, PCTP	rs1549519-T	0.20	6E-9		0.048	[0.024-0.072] unit decrease	Affymetrix [855034]	N
997	chr17	54123972	54123973	rs2060070	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q22	NR	rs2060070-G	0.76230421875	9E-7	(IGP36)	0.1789	[0.11-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
997	chr17	54123972	54123973	rs2060070	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q22	NR	rs2060070-G	0.761979803659081	2E-6	(IGP37)	0.1745	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
997	chr17	54123972	54123973	rs2060070	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q22	NR	rs2060070-G	0.761965887650468	2E-6	(IGP38)	0.1748	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
998	chr17	54192522	54192523	rs1431318	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	17q22	intergenic	rs1431318-?	NR	9E-7		1.41	[1.23-1.62]	Illumina [948142]	N
998	chr17	54203359	54203360	rs8065311	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	17q22	intergenic	rs8065311-?	NR	2E-6		1.43	[1.23-1.66]	Illumina [948142]	N
999	chr17	54278714	54278715	rs1019238	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	17q22	ANKFN1	rs1019238-?	NR	6E-7		1.45	[1.25-1.68]	Illumina [948142]	N
1000	chr17	54430154	54430155	rs12449568	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	17q22	ANKFN1	rs12449568-C	0.47	2E-6		0.25	[0.15-0.35] cm increase	Affymetrix, Illumina [2260683] (imputed)	N
1001	chr17	54611290	54611291	rs17760268	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	17q22	ANKFN1, NOG	rs17760268-C		4E-6				Illumina [944512] (imputed)	N
1001	chr17	54615616	54615617	rs17760296	20023658	Mangold E	2009-12-20	Nat Genet	Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.	Orofacial clefts	399 European ancestry cases, 1,318 European ancestry controls	655 European ancestry triads	17q22	NOG	rs17760296-G	0.16	7E-6		1.5	[1.32-1.69]	Illumina [521288]	N
1001	chr17	54638947	54638948	rs8072843	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	17q22	intergenic	rs8072843-A	0.002	6E-6	(Continous PC20)	0.511	[NR] unit decrease	Illumina [546355]	N
1002	chr17	54773237	54773238	rs227731	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	17q22	NR	rs227731-C	NR	2E-8	(Meta-All, NSCL/P)	1.228	[1.078-1.400]	NR [497084]	N
1002	chr17	54773237	54773238	rs227731	20023658	Mangold E	2009-12-20	Nat Genet	Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.	Orofacial clefts	399 European ancestry cases, 1,318 European ancestry controls	655 European ancestry triads	17q22	NOG	rs227731-C	0.42	1E-8		1.38	[1.21-1.56]	Illumina [521288]	N
1002	chr17	54778816	54778817	rs227724	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q22	NOG	rs227724-A	0.65	7E-15		0.03	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1003	chr17	54839651	54839652	rs1401795	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17q22	C17orf67	rs1401795-A	0.508	1E-23		0.03	[0.024-0.036] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1003	chr17	54839758	54839759	rs1401796	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q22	NOG	rs1401796-?	NR	2E-8	(Conditioned on rs227724)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1003	chr17	54850328	54850329	rs4794665	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	17q22	C17orf67	rs4794665-A	0.17	6E-6		0.019	[0.0053-0.0327] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1003	chr17	54850328	54850329	rs4794665	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	17q22	COIL, RISK, NOG, DGKE, TRIM25	rs4794665-A	0.48	1E-7		3.6	[2.23-4.97] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1003	chr17	54868624	54868625	rs7224488	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	17q22	NOG	rs7224488-?		2E-6				Illumina [859311]	N
1003	chr17	54880992	54880993	rs3853824	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q22	NR	rs3853824-G	0.64	8E-10	(EA)	1.0661255		Affymetrix, Illumina [~ 9000000] (imputed)	N
1003	chr17	54880992	54880993	rs3853824	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q22	intergenic	rs3853824-A	0.64	1E-10	(EA)	1.0847627		Affymetrix, Illumina [~ 9000000] (imputed)	N
1005	chr17	55108733	55108734	rs6503782	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	17q22	intergenic	rs6503782-?	0.51	2E-6		1.41	[1.22-1.61]	Affymetrix [2543887] (imputed)	N
1005	chr17	55119993	55119994	rs8073390	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	17q22	intergenic	rs8073390-?	NR	7E-6	(SF3)			Affymetrix [5476100] (imputed)	N
1010	chr17	55743276	55743277	rs12938078	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17q22	NR	rs12938078-A	NR	2E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
1010	chr17	55747415	55747416	rs11079321	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	17q22	MSI2	rs11079321-A	0.28	8E-6	(AA)	0.16	[0.082-0.238] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1010	chr17	55823551	55823552	rs8077059	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Sex hormone-binding globulin levels	1,598 European ancestry female individuals	NA	17q22	intergenic	rs8077059-C	0.25	5E-6		0.081	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
1011	chr17	55866286	55866287	rs12938916	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	17q22	NR	rs12938916-?	NR	5E-7	(dominant)			Affymetrix [NR]	N
1012	chr17	56010959	56010960	rs8074980	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	17q22	intergenic	rs8074980-A	0.1716	1E-6		0.5238	[0.31-0.73] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1012	chr17	56010959	56010960	rs8074980	20802204	Baranzini SE	2010-09-01	Brain	Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.	Multiple sclerosis--Brain Glutamate Levels	382 cases	NA	17q22	CUEDC1	rs8074980-?	NR	2E-6				Illumina [~ 500000]	N
1014	chr17	56313903	56313904	rs8067912	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q22	NR	rs8067912-C	0.0307230178539626	5E-7	(IGP31)	0.4565	[0.28-0.63] unit increase	Illumina [~ 2500000] (imputed)	N
1014	chr17	56313903	56313904	rs8067912	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q22	NR	rs8067912-C	0.0305423055728934	1E-6	(IGP35)	0.4386	[0.26-0.62] unit increase	Illumina [~ 2500000] (imputed)	N
1015	chr17	56369848	56369849	rs12940923	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (plasma)	9,260 European ancestry individuals		17q22	MPO, RNF43, PPM1E	rs12940923-A	0.84	4E-9		0.07	[0.050-0.090] unit decrease	Affymetrix, Illumina [2421770]	N
1015	chr17	56448296	56448297	rs2257205	20686608	Low SK	2010-07-29	PLoS One	Genome-wide association study of pancreatic cancer in Japanese population.	Pancreatic cancer	991 Japanese ancestry cases, 5,209 Japanese ancestry controls	NA	17q22	RNF43	rs2257205-A	0.33	8E-6	(dominant)	1.38	[1.20-1.59]	Illumina [420236]	N
1016	chr17	56501419	56501420	rs2429369	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	17q22	SKA2, MTMR4, SEPT4, LOC101927688, TEX14, PPM1E, TRIM37, RAD51C, RNF43, HSF5	rs2429369-?	NR	3E-7		0.0295	[0.018-0.041] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
1016	chr17	56584204	56584205	rs2302189	21940522	Shaffer JR	2011-09-21	J Dent Res	Genome-wide association scan for childhood caries implicates novel genes.	Dental caries	1,305 European ancestry children	1,695 European ancestry children	17q22	intergenic	rs2302189-?	NR	8E-6		1.33	[-0.76720-3.42720]	Illumina [1450678] (imputed)	N
1016	chr17	56584507	56584508	rs2302190	25208829	Anderson D	2014-09-11	Genes Immun	Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.	Vitamin D levels	645 European ancestry age 6 individuals, 28 age 6 individuals, 1,073 European ancestry age 14 individuals, 67 age 14 individuals	NA	17q22	HSF5, RNF43, MTMR4	rs2302190-C	0.2	1E-6	(Age 6)	0.94	[0.92-0.96] unit increase	Illumina [2461244] (imputed)	N
1017	chr17	56632542	56632543	rs9905704	25877299	Kristiansen W	2015-04-15	Hum Mol Genet	Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.	Testicular germ cell tumor	1,326 European ancestry cases, 6,687 European ancestry controls	710 European ancestry case-parent triads, 289 European ancestry cases, 290 European ancestry controls	17q22	TEX14	rs9905704-T	0.708	4E-6		1.23	[NR]	Illumina [610240]	N
1017	chr17	56632542	56632543	rs9905704	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	17q22	RAD51C, TEX14	rs9905704-T	0.67	3E-9		1.21	[1.10-1.34]	Illumina [307291]	N
1017	chr17	56632542	56632543	rs9905704	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	17q22	C17orf47, RAD51C, PPM1E, SEPT4, TRIM37, SKA2, TEX14	rs9905704-T	0.68	4E-13		1.27	[1.18-1.33]	Illumina [NR]	N
1017	chr17	56709033	56709034	rs411988	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (ferritin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	17q22	TEX14	rs411988-A	0.564	2E-10		0.044	[0.03-0.058] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
1017	chr17	56709057	56709058	rs412000	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		17q22	RAD51C, TEX14	rs412000-C	NR	2E-9		0.1641	[0.11-0.22] unit decrease	Illumina [2446724] (imputed)	N
1018	chr17	56847944	56847945	rs9303401	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	17q22	PPM1E	rs9303401-?	NR	5E-6	(NAM)			Affymetrix [70897]	N
1022	chr17	57287453	57287454	rs6503905	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (plasma)	9,260 European ancestry individuals		17q22	C17orf71	rs6503905-A	0.37	3E-12		0.06	[0.040-0.080] unit decrease	Affymetrix, Illumina [2421770]	N
1023	chr17	57466503	57466504	rs728478	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	17q22	YPEL2	rs728478-G	0.445	8E-6		0.4	[0.22-0.58] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1023	chr17	57502827	57502828	rs4968361	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17q22	NR	rs4968361-A	NR	9E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
1026	chr17	57850250	57850251	rs11650106	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity and mass	6,851 European ancestry individuals	13,664 European ancestry individuals	17q23.1	TMEM49	rs11650106-C	0.48	3E-9	(activity)	0.0092	[0.0039-0.0145] ng/ml decrease	Illumina [796174]	N
1027	chr17	57963536	57963537	rs1292053	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q23.1	NR	rs1292053-G	0.442	1E-12	(EA)	1.0726192	[1.05-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1027	chr17	57963536	57963537	rs1292053	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q23.1	NR	rs1292053-G	0.442	2E-14	(EA)	1.0954721	[1.07-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1027	chr17	57963536	57963537	rs1292053	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	17q23.1	RPS6KB1, TUBD1	rs1292053-G	0.446	9E-13		1.076	[1.045-1.106]	Affymetrix, Illumina [1230000] (imputed)	N
1027	chr17	58024274	58024275	rs180515	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	17q23.1	RPS6KB1	rs180515-G	NR	9E-8		1.09	[1.08-1.11]	Illumina [465434]	N
1027	chr17	58024323	58024324	rs1051424	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q23.1	RPS6KB1, NDUFB8P2, TUBD1, RNFT1	rs1051424-G	0.127	3E-6	(Urinary free epinephrine )	0.03	[NR] nmol/d increase	Illumina [899892]	N
1034	chr17	58966537	58966538	rs7224438	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-2)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	17q23.2	BCAS3	rs7224438-G		4E-7	(AA)			Illumina [NR]	N
1036	chr17	59239220	59239221	rs11868441	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	17q23.2	BCAS3	rs11868441-G	0.75	2E-9		0.0059	[0.0039-0.0079] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
1037	chr17	59286262	59286263	rs11651885	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	17q23.2	BCAS3	rs11651885-G	0.23	4E-11		0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1037	chr17	59286262	59286263	rs11651885	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	17q23.2	BCAS3	rs11651885-G	0.23	2E-12	(EA)	0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1037	chr17	59286643	59286644	rs8068952	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Vertical cup-disc ratio	7,360 European ancestry individuals	4,455 European ancestry individuals	17q23.2	BCAS3	rs8068952-G	0.23	3E-8		0.01	[0.008-0.016] mm2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1037	chr17	59292435	59292436	rs72832584	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		17q23.2	BCAS3	rs72832584-?	0.05	1E-11		0.3	unit decrease	Illumina [NR] (imputed)	N
1037	chr17	59323042	59323043	rs17513268	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q23.2	BCAS3	rs17513268-G	0.084	7E-6	(Eotaxin )	0.03	[NR] pg/mL increase	Illumina [899892]	N
1038	chr17	59379737	59379738	rs3785859	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	17q23.2	BCAS3	rs3785859-T	0.4378	1E-6	(O'Connor Slope)	0.029	[NR] unit increase	Illumina [546355]	N
1038	chr17	59391378	59391379	rs3785856	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	17q23.2		rs3785856-?,rs10853029-?	NR	8E-6	(Haplotype-?????)			Illumina [1006480]	N
1038	chr17	59396448	59396449	rs10853029	23468962	Song C	2013-02-28	PLoS One	A genome-wide scan for breast cancer risk haplotypes among African American women.	Breast cancer	3,016 African American cases, 2,745 African American controls	NA	17q23.2		rs3785856-?,rs10853029-?	NR	8E-6	(Haplotype-?????)			Illumina [1006480]	N
1038	chr17	59447368	59447369	rs11653176	25967671	Li C	2015-05-13	Nat Commun	Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.	Gout	1,255 Han Chinese ancestry male cases, 1,848 Han Chinese ancestry male controls	3,020 Han Chinese ancestry male cases, 4,424 Han Chinese ancestry male controls	17q23.2	BCAS3	rs11653176-?	0.528	1E-13		1.27	[NR]	Affymetrix [603505]	N
1038	chr17	59456588	59456589	rs9895661	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	17q23.2	BCAS3	rs9895661-C	0.52	7E-11		0.0045	[0.0031-0.0059] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
1038	chr17	59456588	59456589	rs9895661	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	17q23.2	BCAS3	rs9895661-C	0.52	5E-11		0.0051	[0.0035-0.0067] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
1038	chr17	59456588	59456589	rs9895661	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	17q23.2	BCAS3, TBX2, C17orf82	rs9895661-C	0.19	1E-15	(eGFRcrea)	0.01	[0.007-0.015] ml/min/1.73 m2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1038	chr17	59465696	59465697	rs2079742	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	17q23.2	BCAS3, C17orf82	rs2079742-T	0.85	1E-8		0.043	[0.027-0.059] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1038	chr17	59483765	59483766	rs8068318	20383145	Chambers JC	2010-04-11	Nat Genet	Genetic loci influencing kidney function and chronic kidney disease.	Creatinine levels	23,812 European ancestry individuals	16,626 European ancestry individuals	17q23.2	TBX2	rs8068318-G	0.27	3E-10		0.8	[0.6-1.0] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1038	chr17	59494573	59494574	rs882367	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	17q23.2	TBX2	rs882367-C	0.334	8E-14	(EA)	0.078	[0.058-0.098] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1038	chr17	59496648	59496649	rs2079795	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	17q23.2	C17orf82	rs2079795-T	0.33	1E-15		0.088	[0.066-0.11] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
1038	chr17	59496648	59496649	rs2079795	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17q23.2	C17orf82	rs2079795-T	0.328	2E-46		0.045	[0.039-0.051] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1038	chr17	59496648	59496649	rs2079795	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	17q23.2	C17orf82	rs2079795-T	0.32	1E-18		1.2	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1038	chr17	59496648	59496649	rs2079795	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q23.2	TBX2	rs2079795-T	0.33	2E-24		0.04	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1038	chr17	59496648	59496649	rs2079795	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	17q23.2	TBX4, TBX2, C17orf82	rs2079795-T	0.33	3E-6		0.4	[NR] cm increase	Affymetrix [334546]	N
1038	chr17	59497276	59497277	rs757608	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	17q23.2	TBX4	rs757608-A	0.29	2E-17		0.042	[0.028-0.056] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1038	chr17	59497276	59497277	rs757608	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	17q23.2	BCAS3, TBX4, TBX2, NACA2	rs757608-T	0.35	6E-8		4.4	[2.83-5.97] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1040	chr17	59638622	59638623	rs2378870	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17q23.2	NACA2	rs2378870-T	0.372	4E-10		0.02	[0.014-0.026] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1040	chr17	59667952	59667953	rs17610181	23989986	Evangelou E	2013-08-29	Ann Rheum Dis	A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.	Osteoarthritis (hip)	up to 4,734 European ancestry cases, up to 46,903 European ancestry controls	up to 6,928 European ancestry cases, up to 20,570 European ancestry controls	17q23.2	NACA2	rs17610181-A	0.14	8E-6		1.12	[1.06-1.18]	Illumina [2567279] (imputed)	N
1041	chr17	59880645	59880646	rs34289250	21964575	Rafnar T	2011-10-02	Nat Genet	Mutations in BRIP1 confer high risk of ovarian cancer.	Ovarian cancer	640 European ancestry cases, 41,607 European ancestry controls	NA	17q23.2	BRIP1	rs34289250-C	0.0089	6E-13		7.95	[NR]	Illumina [15957390] (imputed)	N
1041	chr17	59897454	59897455	rs12453935	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	17q23.2	NR	rs12453935-?		9E-6	(AA)			Illumina [up to 524000]	N
1047	chr17	60593815	60593816	rs12949468	25918517	Yashin AI	2015-04-13	Front Genet	Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.	Lifespan	679 female individuals	432 male individuals	17q23.2	TLK2	rs12949468-?	0.157	5E-20	(females)	9.226	[NR] unit decrease	Affymetrix [429783]	N
1048	chr17	60778931	60778932	rs2251393	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	17q23.2	intergenic	rs2251393-?	0.15	4E-7	(Additive)	1.13	[1.08-1.18]	Affymetrix [319222]	N
1054	chr17	61548475	61548476	rs4968782	25340798	Kauwe JS	2014-10-23	PLoS Genet	Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.	Cerebrospinal fluid levels of Alzheimer's disease-related proteins	574 individuals	NA	17q23.3	CYB561, ACE	rs4968782-G	NR	4E-12	(Angiotensin-converting enzyme)			Illumina [5815690] (imputed)	N
1054	chr17	61563457	61563458	rs4329	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	17q23.3	ACE	rs4329-G	0.465	8E-20	(aspartylphenylalanine)	0.134	[NR] unit decrease	Affymetrix, Illumina [534665]	N
1054	chr17	61566030	61566031	rs4343	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	17q23.3	ACE	rs4343-A	0.47	1E-37	(aspartylphenylalanine/X-14450--phenylalanylleucine)	0.059	[0.049-0.069] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr17	61566030	61566031	rs4343	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	17q23.3	ACE	rs4343-G	0.42	8E-14	(Threonylphenylalanine)	0.21	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1054	chr17	61566030	61566031	rs4343	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	17q23.3	ACE	rs4343-G	0.25	9E-25	(Aspartylphenylalanine)	0.22	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1054	chr17	61566030	61566031	rs4343	24625756	Yu B	2014-03-13	PLoS Genet	Genetic determinants influencing human serum metabolome among African Americans.	Serum metabolite levels	1,260 African American individuals	NA	17q23.3	ACE	rs4343-A	0.75	1E-18	([H]HWESASLLR[OH])	0.35	[NR] unit increase	Affymetrix [2341704] (imputed)	N
1054	chr17	61566030	61566031	rs4343	20066004	Chung CM	2010-01-12	Pharmacogenomics J	A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.	Angiotensin-converting enzyme activity	400 Han Chinese ancestry hypertensive cases	623 Han Chinese ancestry hypertensive cases	17q23.3	ACE	rs4343-G	0.31	3E-25		16.2	[NR] % variance	Illumina [~ 550000]	N
1054	chr17	61569731	61569732	rs4351	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17q23.3	ACE	rs4351-A	0.48	4E-22	(X-14189--leucylalanine)	0.058	[0.046-0.07] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr17	61569731	61569732	rs4351	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17q23.3	ACE	rs4351-A	0.48	1E-19	(aspartylphenylalanine)	0.046	[0.036-0.056] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr17	61569731	61569732	rs4351	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17q23.3	ACE	rs4351-A	0.47	1E-14	(X-14205--alpha-glutamyltyrosine)	0.044	[0.032-0.056] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr17	61569731	61569732	rs4351	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17q23.3	ACE	rs4351-A	0.46	3E-17	(X-14304--leucylalanine)	0.053	[0.041-0.065] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1054	chr17	61569731	61569732	rs4351	23281178	Hong MG	2013-03-01	Hum Mutat	A genome-wide assessment of variability in human serum metabolism.	Metabolite levels	214 European ancestry prostate cancer cases, 188 European ancestry controls	489 European ancestry prostate cancer cases	17q23.3	ACE	rs4351-A	NR	9E-13	(Unknown)			Affymetrix [333722]	N
1054	chr17	61573760	61573761	rs4362	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17q23.3	ACE	rs4362-T	0.53	1E-21	(X-14208--phenylalanylserine)	0.061	[0.049-0.073] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1055	chr17	61712963	61712964	rs7209435	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	17q23.3	MAP3K3, WDR68, LYK5, MT1F	rs7209435-C	0.27	7E-7		4.8	[2.84-6.76] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
1056	chr17	61763030	61763031	rs11658329	22021425	Carty CL	2011-10-21	Hum Mol Genet	Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).	Height	8,149 African American female individuals	Up to 20,809 African American and African ancestry individuals	17q23.3	MAP3K3	rs11658329-G	0.30	5E-10		0.049	[0.029-0.069] unit decrease	Affymetrix [855034]	N
1056	chr17	61763030	61763031	rs11658329	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	17q23.3	MAP3K3	rs11658329-C	0.70	6E-10		0.053	[0.035-0.071] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
1056	chr17	61763184	61763185	rs3785574	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	17q23.3	MAP3K3	rs3785574-T	0.46	9E-14		0.036	[0.024-0.048] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
1057	chr17	61893397	61893398	rs7223966	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q23.3	DDX42	rs7223966-G	0.725	1E-6	(EA)	0.017	[0.01-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1057	chr17	61893397	61893398	rs7223966	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q23.3	DDX42	rs7223966-G	0.722	1E-7		0.017	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1057	chr17	61947106	61947107	rs2854207	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17q23.3	CSH2	rs2854207-C	0.727	1E-42		0.046	[0.04-0.052] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1057	chr17	61966464	61966465	rs2665838	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q23.3	CSH1/GH1	rs2665838-C	0.73	5E-25		0.042	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1057	chr17	61977247	61977248	rs2854160	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	17q23.3	CSH1	rs2854160-T	0.54	2E-12		0.036	[0.024-0.048] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1057	chr17	61977247	61977248	rs2854160	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	17q23.3	intergenic	rs2854160-T	0.21	5E-8		0.053	[0.033-0.073] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
1057	chr17	61978547	61978548	rs2941551	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	17q23.3	CSH1	rs2941551-G	0.27	3E-14		1.19	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1058	chr17	62007497	62007498	rs2070776	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	17q23.3	CD79B	rs2070776-A	0.346	6E-41		0.042	[0.036-0.048] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1058	chr17	62007497	62007498	rs2070776	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q23.3	GH region	rs2070776-?	NR	9E-9	(Conditioned on rs2665838)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
1061	chr17	62408298	62408299	rs6504218	21378988	The Coronary Artery Disease (C4D) Genetics Consortium	2011-03-06	Nat Genet	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.	Coronary heart disease	8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls	18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls	17q23.3	intergenic	rs6504218-?	NR	1E-6				Illumina [574919]	N
1061	chr17	62506279	62506280	rs57166100	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	17q23.3	NR	rs57166100-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1062	chr17	62600934	62600935	rs111854052	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	17q24.1	SMURF2	rs111854052-A	0.99	9E-6	(Age 20-60 years)	0.3228	[0.18-0.47] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1065	chr17	62998022	62998023	rs10853057	24736177	Sprooten E	2014-04-13	Neuroimage	Common genetic variants and gene expression associated with white matter microstructure in the human brain.	White matter microstructure (global fractional anisotropy)	727 Mexican American individuals from 65 families, 49 Mexican American individuals	NA	17q24.1	GNA13	rs10853057-?		3E-10				Illumina [929187]	N
1070	chr17	63642541	63642542	rs8074751	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	17q24.1	CCDC46	rs8074751-?	0.61	1E-6		1.45	[NR]	Illumina [835136]	N
1074	chr17	64098544	64098545	rs2319125	23279374	Athanasiadis G	2013-01-02	J Thromb Haemost	Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.	&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels	306 European ancestry individuals	NA	17q24.1	CEP112	rs2319125-C	0.46	1E-6		0.42	unit increase	Illumina [283437]	N
1074	chr17	64133725	64133726	rs7209395	23279374	Athanasiadis G	2013-01-02	J Thromb Haemost	Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.	&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels	306 European ancestry individuals	NA	17q24.1	CEP112	rs7209395-T	0.34	7E-7		0.44	unit increase	Illumina [283437]	N
1074	chr17	64133725	64133726	rs7209395	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Weight	Up to 3,925 European individuals	NA	17q24.1	NR	rs7209395-G	0.23	3E-6	(females + males)	1.75	[NR] kg increase	Illumina [318237]	N
1074	chr17	64210579	64210580	rs1801689	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	17q24.2	APOH, PRXCA	rs1801689-C	0.04	1E-11		0.103	[NR] unit increase	NR [NR] (imputed)	N
1075	chr17	64227362	64227363	rs11867410	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	17q24.2	APOH	rs11867410-C	0.02	3E-7	(MAP, during intervention)	4.21	[2.58-5.84] mmHg decrease	Affymetrix [2216774] (imputed)	N
1075	chr17	64227362	64227363	rs11867410	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (high sodium and potassium intervention)	1,836 Han Chinese ancestry individuals	654 Han Chinese ancestry individuals	17q24.2	APOH	rs11867410-C	0.02	3E-7	(DBP, during intervention)	3.96	[2.43-5.49] mmHg decrease	Affymetrix [2216774] (imputed)	N
1075	chr17	64236317	64236318	rs10048158	23279374	Athanasiadis G	2013-01-02	J Thromb Haemost	Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.	&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels	306 European ancestry individuals	NA	17q24.2	APOH	rs10048158-C	0.5	1E-6		0.41	unit decrease	Illumina [283437]	N
1075	chr17	64303792	64303793	rs9892651	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	17q24.2	PRKCA	rs9892651-C	0.429	3E-14		0.74	[0.54-0.94] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1076	chr17	64447164	64447165	rs7207499	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	17q24.2	PRKCA	rs7207499-?	NR	5E-6	(Whole cohort; AA)			Illumina [up to 871502]	N
1077	chr17	64517312	64517313	rs11651708	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	17q24.2	PRKCA	rs11651708-A	0.33	3E-6	(AA)	0.16	[0.1-0.22] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1077	chr17	64538330	64538331	rs4791051	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	17q24.2	PRKCA	rs4791051-A	0.52	2E-6	(Right HG area)	4.04	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
1079	chr17	64779429	64779430	rs3889237	22021425	Carty CL	2011-10-21	Hum Mol Genet	Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).	Height	8,149 African American female individuals	Up to 20,809 African American and African ancestry individuals	17q24.2	PRKCA	rs3889237-C	0.14	3E-8		0.056	[0.029-0.083] unit decrease	Affymetrix [855034]	N
1080	chr17	64917032	64917033	rs17645023	21057379	Curtis D	2010-11-04	Psychiatr Genet	Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.	Bipolar disorder and schizophrenia	506 European ancestry bipolar 1 disorder cases, 523 European ancestry schizophrenia cases, 505 European ancestry controls	NA	17q24.2	CACNG5	rs17645023-?	NR	6E-7				Affymetrix [302482]	N
1083	chr17	65386213	65386214	rs7224314	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	17q24.2	PITPNC1, LOC729822, NOL11	rs7224314-C	0.223	6E-7		2.37	[1.68-3.36]	Illumina [1556551]	N
1084	chr17	65410933	65410934	rs7224000	24503447	Nelson D	2014-02-06	Antivir Ther	Genome-wide association study to characterize serum bilirubin elevations in patients with HCV treated with GS-9256, an HCV NS3 serine protease inhibitor.	Response to protease inhibitor treatment in hepatitis c (peak serum total bilirubin levels)	176 European ancestry individuals	NA	17q24.2	PITPNC1	rs7224000-?	NR	3E-6		0.12	[NR] unit increase	Illumina [4466593]	N
1084	chr17	65488020	65488021	rs2017854	23932459	Yao TC	2013-08-06	J Allergy Clin Immunol	Genome-wide association study of lung function phenotypes in a founder population.	Pulmonary function	1,144 Hutterite individuals	NA	17q24.2	PITPNC1	rs2017854-?	NR	3E-6	(FEV1/FVC)			Affymetrix [246010]	N
1087	chr17	65898808	65898809	rs7216064	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	17q24.2	BPTF	rs7216064-A	0.63	7E-6		1.16	[1.09-1.25]	Illumina [596032]	N
1087	chr17	65898808	65898809	rs7216064	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	17q24.2	BPTF	rs7216064-A	0.707	7E-11		1.2	[1.13-1.26]	Illumina [538166]	N
1091	chr17	66344702	66344703	rs9910816	25781172	Avramopoulos D	2015-03-17	PLoS One	Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.	Bipolar disorder (inflammation and infection response interaction)	397 Ashkenazi Jewish bipolar disorder cases, 241  Ashkenazi Jewish controls	NA	17q24.2	intergenic	rs9910816-?		2E-6	(anti-CMV)			Affymetrix [516638]	N
1091	chr17	66346555	66346556	rs143323161	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	17q24.2	NR	rs143323161-?	NR	3E-6	(Japanese)	0.6027	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1091	chr17	66382208	66382209	rs11655081	24375517	Lohmann K	2013-12-26	Mov Disord	Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?	Musician's dystonia	127 European ancestry cases, 984 European ancestry controls	116 European ancestry cases, 125 European ancestry controls	17q24.2	ARSG	rs11655081-?	0.02	4E-9		4.33	[2.66-7.05]	Affymetrix [557620]	N
1092	chr17	66575116	66575117	rs12453524	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	17q24.2	NR	rs12453524-?	NR	4E-6	(Japanese)	0.6306	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1093	chr17	66625793	66625794	rs77325336	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	17q24.2	NR	rs77325336-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
1095	chr17	66875293	66875294	rs4148008	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	17q24.2	ABCA8	rs4148008-G	0.33	1E-12		0.028	[NR] unit decrease	NR [NR] (imputed)	N
1095	chr17	66875293	66875294	rs4148008	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	17q24.2	ABCA8	rs4148008-G	0.32	2E-10		0.42	[0.26-0.58] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1096	chr17	67081277	67081278	rs77542162	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	17q24.2	ABCA6, ABCA8	rs77542162-G	0.02	2E-18		0.22	[0.17-0.27] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1096	chr17	67081277	67081278	rs77542162	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	17q24.2	ABCA6, ABCA68	rs77542162-G	0.02	2E-13		0.179	[0.13-0.23] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1097	chr17	67117687	67117688	rs997781	26183928	Leng S	2015-07-16	Cancer Res	Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.	MGMT methylation in smokers	296  European ancestry individuals with MGMT methylation, 867 European ancestry individuals without MGMT methylation	107 European and Hispanic individuals with MGMT methylation, 323 European and Hispanic individuals without MGMT methylation	17q24.3	ABCA6, ABCA10	rs997781-A	0.29	2E-7		1.63	[1.36-1.95]	Illumina [1599980]	N
1099	chr17	67432384	67432385	rs817565	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	17q24.3	MAP2K6	rs817565-?		3E-6	(EA)	3.779	[NR]	Illumina [936149]	N
1102	chr17	67802351	67802352	rs11870477	22569225	Krintel SB	2012-05-06	Pharmacogenet Genomics	Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis.	Response to TNF-alpha inhibitors in rheumatoid arthritis	196 European ancestry cases	NA	17q24.3	MAP2K6	rs11870477-?	NR	3E-6	(Change in DAS28)			Illumina [486450]	N
1102	chr17	67850900	67850901	rs2366017	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitoleic acid (16:1n-7) plasma levels	8,961 European ancestry individuals		17q24.3	KCNJ16	rs2366017-A	NR	3E-7		0.0938	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1104	chr17	68090206	68090207	rs11867479	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	17q24.3	KCNJ16/KCNJ2	rs11867479-T	0.34	2E-10		0.025	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
1104	chr17	68108416	68108417	rs12936361	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	17q24.3	KCNJ16	rs12936361-T	0.83	5E-6	(Age 20-60 years)	0.2338	[0.13-0.33] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
1105	chr17	68185585	68185586	rs8080944	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (time to first tooth eruption)	11,118 European ancestry individuals		17q24.3	KCNJ16, KCNJ2	rs8080944-A	NR	8E-34		0.341	[0.29-0.4] unit decrease	Illumina [2446724] (imputed)	N
1105	chr17	68185585	68185586	rs8080944	23704328	Fatemifar G	2013-05-23	Hum Mol Genet	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Primary tooth development (number of teeth)	11,513 European ancestry individuals		17q24.3	KCNJ16, KCNJ2	rs8080944-A	NR	2E-19		0.221	[0.17-0.27] unit increase	Illumina [2446724] (imputed)	N
1105	chr17	68190825	68190826	rs8079702	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (time to first tooth eruption)	5,919 European ancestry related individuals	NA	17q24.3	KCNJ2	rs8079702-G	0.39	4E-22		1.62	[NR] % variance	Illumina [300766]	N
1105	chr17	68190825	68190826	rs8079702	20195514	Pillas D	2010-02-26	PLoS Genet	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	Primary tooth development (number of teeth)	5,752 European ancestry related individuals	NA	17q24.3	KCNJ2	rs8079702-G	0.39	1E-14		1.15	% variance	Illumina [300766]	N
1105	chr17	68203545	68203546	rs236586	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	17q24.3	KCNJ2	rs236586-G	0.466	6E-11		0.64	[0.44-0.84] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1105	chr17	68206396	68206397	rs72863877	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	17q24.3	NR	rs72863877-?	NR	2E-6	(Japanese)	0.7501	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1105	chr17	68259445	68259446	rs623011	22399142	Jongjaroenprasert W	2012-03-08	J Hum Genet	A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis.	Thyrotoxic hypokalemic periodic paralysis	78 Thai ancestry cases, 74 Thai ancestry controls	28 Thai ancestry cases, 48 Thai ancestry controls	17q24.3	KCNJ2	rs623011-A	0.45	4E-12		5.47	[3.04-9.83]	Illumina [508393]	N
1106	chr17	68291132	68291133	rs6501384	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	17q24.3	NR	rs6501384-T	0.33	6E-6		1.41	[1.13-1.76]	Illumina [~ 550000]	N
1106	chr17	68325867	68325868	rs10775360	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	17q24.3	KCNJ2	rs10775360-T	0.292	1E-12		0.76	[0.54-0.98] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1106	chr17	68326337	68326338	rs312691	22863731	Cheung CL	2012-08-05	Nat Genet	Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.	Thyrotoxic hypokalemic periodic paralysis	69 Chinese ancestry cases, 1,170 East Asian ancestry controls	54 Chinese ancestry cases, 400 Taiwanese ancestry controls	17q24.3	KCNJ16, KCNJ2	rs312691-C	0.76	8E-14		3.2	[2.40-4.40]	Illumina [486782]	N
1107	chr17	68430992	68430993	rs1396515	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	17q24.3	KCNJ2	rs1396515-C	0.521	2E-25		0.98	[0.8-1.16] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1107	chr17	68453344	68453345	rs8066985	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	17q24.3	KCNJ2	rs8066985-A	0.5094	1E-7	(EA)	0.0178	[0.011-0.024] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1107	chr17	68453344	68453345	rs8066985	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	17q24.3	KCNJ2	rs8066985-A	0.5045	4E-9	(EA, women)	0.0263	[0.017-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1107	chr17	68453344	68453345	rs8066985	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	17q24.3	KCNJ2	rs8066985-A	0.4999	3E-8		0.0183	[0.012-0.025] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1107	chr17	68453344	68453345	rs8066985	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	17q24.3	KCNJ2	rs8066985-A	0.4965	1E-9	(women)	0.0266	[0.018-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1107	chr17	68494991	68494992	rs17779747	19305409	Pfeufer A	2009-03-22	Nat Genet	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	QT interval	15,842 European ancestry individuals	up to 13,602 individuals	17q24.3	KCNJ2	rs17779747-T	0.35	6E-12		1.02	[0.53-1.51] ms decrease	Affymetrix, Illumina [2557000] (imputed)	N
1107	chr17	68521860	68521861	rs7219669	22342860	Marjamaa A	2012-02-15	Heart Rhythm	A common variant near the KCNJ2 gene is associated with T-peak to T-end interval.	Cardiac repolarization	1,870 European ancestry individuals	3,745 European ancestry individuals	17q24.3	KCNJ2	rs7219669-T	0.38	6E-14		1.7	ms decrease	Illumina [541864]	N
1108	chr17	68560788	68560789	rs17763769	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	17q24.3	KCNJ2	rs17763769-A	0.146	5E-11		0.89	[0.62-1.16] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1108	chr17	68634064	68634065	rs16975985	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q24.3	KCNJ2	rs16975985-G	0.079	5E-6	(LDL )	0.02	[NR] mg/dL increase	Illumina [899892]	N
1108	chr17	68644188	68644189	rs17718586	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	17q24.3	intergenic	rs17718586-?	0.10	2E-8	(Recessive)	1.53	[1.32-1.78]	Affymetrix [319222]	N
1108	chr17	68661634	68661635	rs12602300	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	17q24.3	NR	rs12602300-?	NR	1E-7	(Latino)	0.7551	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1109	chr17	68718733	68718734	rs4793501	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	17q24.3	KCNJ2	rs4793501-C	0.42	3E-8		0.08	[0.053-0.107] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1110	chr17	68828088	68828089	rs1990193	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q24.3	KCNJ2	rs1990193-C	0.385	9E-6	(Vitamin B12 )	0.03	[NR] pmol/L increase	Illumina [899892]	N
1110	chr17	68878486	68878487	rs1015657	22648509	Wang KS	2012-05-31	J Mol Neurosci	PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.	Formal thought disorder in schizophrenia	835 European ancestry cases, 2,694 European ancestry controls	NA	17q24.3	KCNJ2	rs1015657-?	0.54	2E-6		1.32	[NR]	Affymetrix [729454]	N
1110	chr17	68913505	68913506	rs2079515	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	17q24.3	CASC17	rs2079515-C	0.47	4E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
1111	chr17	68976414	68976415	rs6501431	24929828	Loth DW	2014-06-15	Nat Genet	Genome-wide association analysis identifies six new loci associated with forced vital capacity.	Forced vital capacity	52,253 European ancestry indiviudals	32,917 European ancestry individuals, 6,070 African American individuals, 849 Hispanic individuals, 8,637 East Asian ancestry individuals	17q24.3	KCNJ2	rs6501431-T	0.798	3E-9	(EA)	23.053	[15.44-30.67] ml increase	Affymetrix, Illumina [2762059] (imputed)	N
1112	chr17	69106873	69106874	rs17765344	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	17q24.3	BC039327, CASC17	rs17765344-A	0.48	4E-21		1.19	[1.15-1.23]	Illumina [1531807] (imputed)	N
1112	chr17	69107672	69107673	rs8071558	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	17q24.3	NR	rs8071558-C	0.483	7E-11		1.14	[1.09-1.18]	Affymetrix [up to 19977088] (imputed)	N
1112	chr17	69108752	69108753	rs1859962	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	17q24.3	NR	rs1859962-G	0.48	8E-9	(European)	1.13	[1.09-1.18]	Affymetrix [up to 19977088] (imputed)	N
1112	chr17	69108752	69108753	rs1859962	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	17q24.3	NR	rs1859962-G	0.48	2E-9		1.13	[1.08-1.17]	Affymetrix [up to 19977088] (imputed)	N
1112	chr17	69108752	69108753	rs1859962	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	17q24.3	intergenic	rs1859962-G	NR	3E-11		1.27	[1.18-1.37]	Illumina [571243]	N
1112	chr17	69108752	69108753	rs1859962	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	17q24.3	NR	rs1859962-?	NR	2E-16				Illumina [541129]	N
1112	chr17	69108752	69108753	rs1859962	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	17q24.3	intergenic	rs1859962-G	0.46	1E-6		1.26	[NR]	Illumina [541129]	N
1112	chr17	69108752	69108753	rs1859962	17603485	Gudmundsson J	2007-07-01	Nat Genet	Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.	Prostate cancer	1,501 European ancestry cases, 11,290 European ancestry controls	1,992 European ancestry cases, 3,058 European ancestry controls	17q24.3	intergenic	rs1859962-G	0.46	3E-10		1.2	[1.14-1.27]	Illumina [310520]	N
1112	chr17	69118635	69118636	rs4793529	24753544	Knipe DW	2014-04-21	Cancer Epidemiol Biomarkers Prev	Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.	Prostate cancer	1,146 European ancestry cases, 1,804 European ancestry controls	1,854 European ancestry cases, 1,437 European ancestry controls	17q24.3	SOX9, CALM2P1	rs4793529-T		2E-13		0.28	[0.20-0.35] unit increase	Illumina [514432] (imputed)	N
1112	chr17	69125605	69125606	rs11654749	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	17q24.3	SOX9, KCNJ2	rs11654749-T	0.39	7E-8	(FEV1, Pack-years)	0.0	[-0.00008-0.00018] unit increase	NR [~ 2500000] (imputed)	N
1112	chr17	69125605	69125606	rs11654749	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	17q24.3	SOX9, KCNJ2	rs11654749-T	0.39	1E-8	(FEV1, Ever-smoking)	0.017	[-0.00848-0.04248] unit decrease	NR [~ 2500000] (imputed)	N
1113	chr17	69236997	69236998	rs12946942	24023777	Miyake A	2013-09-04	PLoS One	Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.	Adolescent idiopathic scoliosis (severe)	554 Japanese ancestry cases, 1,474 Japanese ancestry controls	839 East Asian ancestry cases, 10,149 East Asian ancestry controls	17q24.3	SOX9, KCNJ2	rs12946942-T	0.213	6E-12		2.21	[1.76-2.77]	Illumina [455121]	N
1113	chr17	69281765	69281766	rs11871847	25781172	Avramopoulos D	2015-03-17	PLoS One	Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.	Schizophrenia (inflammation and infection response interaction)	460 Ashkenazi Jewish schizophrenia cases, 241  Ashkenazi Jewish controls	NA	17q24.3	CASC17	rs11871847-?		6E-6	(anti-CMV)			Affymetrix [516638]	N
1115	chr17	69490072	69490073	rs9907236	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	17q24.3	SOX9	rs9907236-A	0.06	2E-6	(AA)	0.51	[0.29-0.73] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
1116	chr17	69729924	69729925	rs74976893	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	17q24.3	NR	rs74976893-T	NR	4E-6	(phenotype 1)	4.18	[NR]	Illumina [> 8000000] (imputed)	N
1116	chr17	69729924	69729925	rs74976893	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	17q24.3	NR	rs74976893-T	NR	4E-6	(phenotype 3)	4.18	[NR]	Illumina [> 8000000] (imputed)	N
1118	chr17	69949015	69949016	rs7217932	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	17q24.3	SOX9	rs7217932-A	0.46	2E-11	(FNBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1119	chr17	70098160	70098161	rs9913711	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	17q24.3	FLJ37644, SOX9	rs9913711-C	0.65	1E-9		2.4	[1.80-3.00] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1120	chr17	70127535	70127536	rs9915657	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	17q24.3	SOX9	rs9915657-T	0.541	8E-13	(TSH)	0.064	[0.046-0.082] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1120	chr17	70127535	70127536	rs9915657	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	17q24.3	SOX9	rs9915657-T	0.541	2E-7	(TSH - Males)	0.068	[0.043-0.093] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1120	chr17	70127535	70127536	rs9915657	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	17q24.3	SOX9	rs9915657-T	0.541	1E-7	(TSH - Females)	0.063	[0.039-0.087] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1121	chr17	70359773	70359774	rs61457372	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	17q24.3	intergenic	rs61457372-?	NR	9E-6		0.56	unit increase	NR [at least 1978803] (imputed)	N
1121	chr17	70363394	70363395	rs12941150	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	17q24.3	SOX9	rs12941150-?	NR	7E-6	(FEV1/FVC decline in asthmatics)	0.2239	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
1122	chr17	70400165	70400166	rs11655237	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	17q24.3	LINC00673	rs11655237-T	0.11	1E-14		1.26	[1.19-1.34]	Illumina [866891] (imputed)	N
1123	chr17	70584264	70584265	rs718073	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill in reading disability	728 European ancestry individuals with reading disability	NA	17q24.3	LOC100499467, SLC39A11, LINC00511	rs718073-?	0.84	5E-6		0.35	[0.20-0.50] unit increase	Illumina [2095209]	N
1123	chr17	70594628	70594629	rs11077614	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	17q24.3	SLC39A11	rs11077614-G	0.49	3E-6	(EA-glucose response)	3.25	[1.92-4.58] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1123	chr17	70641697	70641698	rs7210086	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	17q24.3	intergenic	rs7210086-A	0.797	2E-9		1.111	[1.062-1.163]	Affymetrix, Illumina [1230000] (imputed)	N
1123	chr17	70642922	70642923	rs17780256	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q24.3	NR	rs17780256-A	0.81	6E-13	(EA)	1.1223103		Affymetrix, Illumina [~ 9000000] (imputed)	N
1123	chr17	70642922	70642923	rs17780256	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q24.3	NR	rs17780256-A	0.81	3E-11	(EA)	1.0870057		Affymetrix, Illumina [~ 9000000] (imputed)	N
1124	chr17	70696102	70696103	rs8066857	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	17q24.3	SLC39A11	rs8066857-C	NR	8E-6	(site of onset)	1.48	[NR]	Illumina [288357]	N
1124	chr17	70713538	70713539	rs891684	23698163	Gong J	2013-05-21	Nutrients	Genome-wide association study of serum selenium concentrations.	Serum selenium levels	582 European ancestry individuals	621 European ancestry individuals	17q24.3	SLC39A11	rs891684-A	0.05	4E-7		0.093	[0.058-0.128] mg/dL decrease	Illumina [2474333]	N
1125	chr17	70788405	70788406	rs2567519	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	17q24.3	SLC39A11	rs2567519-?		1E-7	(males)			Illumina [1211988] (imputed)	N
1125	chr17	70826403	70826404	rs12943829	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	17q24.3	SLC39A11	rs12943829-C	0.01	2E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
1126	chr17	71000939	71000940	rs4969049	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	17q25.1	SLC39A11	rs4969049-C	0.17	1E-6	(Hispanic, Smoking, ever/never)	0.004	[.002-0.01] unit increase	Affymetrix [706791]	N
1127	chr17	71061933	71061934	rs903107	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	17q25.1	SLC39A11	rs903107-G	0.052	6E-6		0.104	[0.059-0.149] unit increase	Illumina [747076]	N
1129	chr17	71335259	71335260	rs3816995	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	17q25.1	SDK2	rs3816995-?	0.03	2E-7				Affymetrix [253903]	N
1130	chr17	71528079	71528080	rs1872085	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	17q25.1	SDK2	rs1872085-?	NR	2E-6	(Recessive model)	0.69	unit increase	Illumina [542562]	N
1132	chr17	71735484	71735485	rs899596	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	17q25.1	intergenic	rs899596-?		3E-6	(AIRg)	2.2	[1.32-3.08] unit increase	Illumina [693128]	N
1132	chr17	71784374	71784375	rs116885154	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	17q25.1	NR	rs116885154-?	NR	4E-7		0.4672	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1132	chr17	71807712	71807713	rs12451840	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.1	NR	rs12451840-C	0.0417941590759076	3E-6	(IGP23)	0.7321	[0.42-1.04] unit increase	Illumina [~ 2500000] (imputed)	N
1134	chr17	72042519	72042520	rs7206961	25387706	Vaidyanathan U	2014-12-01	Psychophysiology	Heritability and molecular genetic basis of electrodermal activity: A genome-wide association study.	Electrodermal activity	Up to 4,424 European ancestry twins and their parents	NA	17q25.1	intergenic	rs7206961-?	NR	3E-6	(SCL)	0.058	[0.034-0.082] unit increase	Illumina [527829]	N
1136	chr17	72268207	72268208	rs7219585	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	17q25.1	DNAI2	rs7219585-A	0.13	1E-6	(inspection time)	0.2	[0.12-0.28] unit increase	Illumina [~ 610000]	N
1139	chr17	72699832	72699833	rs10512597	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	17q25.1	CD300LF	rs10512597-T	0.18	1E-8	(EA)	0.008	[0.006-0.01] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
1139	chr17	72699832	72699833	rs10512597	20031577	Danik JS	2009-04-01	Circ Cardiovasc Genet	Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.	Fibrinogen	17,686 European ancestry female individuals	NA	17q25.1	CD300LF, SLC9A3R1, NAT9	rs10512597-A	0.18	8E-11		6.45	[NR] mg/dl decrease	Illumina [337343]	N
1141	chr17	72975747	72975748	rs71380849	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	17q25.1	C17orf28, CDR2L	rs71380849-A	0.05	9E-7		1.47	[1.26-1.71]	NR [NR]	N
1142	chr17	73032318	73032319	rs12949451	26256467	Wojczynski MK	2015-07-03	Metabolism	Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).	Postprandial triglyceride response to high fat diet meal	872 European ancestry individuals	843 Old Order Amish individuals	17q25.1	intergenic	rs12949451-A	0.9152	5E-7	(AUC)	0.439	[0.27-0.61] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1142	chr17	73060072	73060073	rs11077773	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	17q25.1	KCTD2	rs11077773-T	0.06	8E-6	(4-choice RT)	0.24	[0.14-0.34] unit increase	Illumina [~ 610000]	N
1145	chr17	73418861	73418862	rs9896052	26188370	Burdon KP	2015-07-19	Diabetologia	Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene.	Sight-threatening diabetic retinopathy in type 2 diabetes	336 European ancestry cases with retinopathy, 508 European ancestry cases without retinopathy	263 European ancestry cases with retinopathy, 320 European ancestry cases without retinopathy, 334 South Asian ancestry cases with retinopathy, 365 South Asian ancestry cases without retinopathy	17q25.1	KIAA0195, CASKIN2, TSEN54, LLGL2	rs9896052-A	0.294	7E-7	(EA)	1.67	[1.30-2.15] (Discovery)	Illumina [602755]	N
1147	chr17	73687494	73687495	rs820218	26350878	Tashjian RZ	2015-09-05	J Shoulder Elbow Surg	Genome-wide association study for rotator cuff tears identifies two significant single-nucleotide polymorphisms.	Rotator cuff tears	311 European ancestry cases, 2,641 European ancestry controls	NA	17q25.1	SAP30BP	rs820218-?	NR	4E-9				Illumina [257558]	N
1148	chr17	73872947	73872948	rs1055129	21681796	Fornage M	2011-06-16	Ann Neurol	Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium.	White matter hyperintensity burden	9,361 European ancestry individuals	3,024 European ancestry individuals	17q25.1	TRIM47	rs1055129-G	0.30	3E-11				Affymetrix, Illumina [2153274] (imputed)	N
1148	chr17	73882147	73882148	rs7214628	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	17q25.1	TRIM65, ACOX1, UNC13D, TRIM47, FBF1	rs7214628-G	0.19	5E-19				Affymetrix, Illumina [14227402] (imputed)	N
1148	chr17	73882147	73882148	rs7214628	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	17q25.1	TRIM65, ACOX1, UNC13D, TRIM47, FBF1	rs7214628-G	0.19	3E-19	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
1148	chr17	73888671	73888672	rs3744028	21681796	Fornage M	2011-06-16	Ann Neurol	Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium.	White matter hyperintensity burden	9,361 European ancestry individuals	3,024 European ancestry individuals	17q25.1	TRIM65	rs3744028-C	0.18	4E-15				Affymetrix, Illumina [2153274] (imputed)	N
1151	chr17	74283668	74283669	rs164009	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	17q25.1	QRICH2, PRPSAP1	rs164009-A	0.61	2E-7		0.028	[0.018-0.038] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1152	chr17	74414558	74414559	rs447921	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	17q25.1	UBE2O	rs447921-?	NR	9E-6			[NR]	Illumina [283437]	N
1155	chr17	74733402	74733403	rs3744061	23776548	Sim X	2013-06-12	PLoS One	Genetic loci for retinal arteriolar microcirculation.	Retinal arteriolar caliber	18,722 European ancestry individuals	3,939 European ancestry individuals	17q25.1	SFRS2, MFSD11, JMJD6, MXRA7	rs3744061-G	0.44	2E-10		0.86	[0.61-1.11] unit decrease	Illumina [2137729] (imputed)	N
1157	chr17	74988443	74988444	rs7221059	24383474	Manichaikul A	2014-01-02	Am J Respir Crit Care Med	Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.	Pulmonary emphysema	2,587 European ancestry individuals, 2,510 African American individuals, 2,113 Hispanic individuals, 704 Chinese ancestry individuals	6,023 European ancestry individuals	17q25.2	MGAT5B	rs7221059-C	0.974	3E-8	(Chinese)	0.328	[0.21-0.44] unit decrease	Affymetrix [897981]	N
1157	chr17	74997896	74997897	rs4789400	22823124	Verweij KJ	2012-07-24	Addict Biol	The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.	Cannabis use (initiation)	10,091 individuals from 4,622 families	NA	17q25.2	MGAT5B	rs4789400-A	0.08	5E-6		0.069	unit decrease	Illumina [~ 2400000] (imputed)	N
1157	chr17	75004212	75004213	rs11653989	22683750	Sinner MF	2012-06-06	Heart Rhythm	A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.	Cardiac repolarization	7,482 European ancestry individuals	7,151 European ancestry individuals	17q25.2	MGAT5B, SEC14L	rs11653989-T	0.917	3E-6		1.61	[1.32-2.0]	Affymetrix, Illumina [2523555] (imputed)	N
1158	chr17	75114704	75114705	rs17533156	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	17q25.2	SEC14L1	rs17533156-T	NR	8E-6		4.475	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1158	chr17	75211207	75211208	rs3744064	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	17q25.3	SEC14L1	rs3744064-?	0.03053	7E-7	(PAL6)			Illumina [475971]	N
1159	chr17	75257986	75257987	rs12953285	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	17q25.3	NR	rs12953285-C	NR	3E-6	(phenotype 1)	5.88	[NR]	Illumina [> 8000000] (imputed)	N
1159	chr17	75313334	75313335	rs4788985	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Illicit drug use	7,188 European ancestry individuals	NA	17q25.3	SEPT9	rs4788985-G	0.492	9E-6		8.347	[NR] unit increase	Illumina [527829]	N
1160	chr17	75400099	75400100	rs892961	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	17q25.3	SEPT9	rs892961-?	0.59	9E-6	(no asthma)	1.18		Affymetrix, Illumina [up to 2500000] (imputed)	N
1162	chr17	75701696	75701697	rs9906155	20966902	Croteau-Chonka DC	2010-10-21	Obesity (Silver Spring)	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Body mass index	1,780 Filipino ancestry females	NA	17q25.3	SEPT9	rs9906155-T	0.91	9E-6		0.05	[0.02-0.07] unit increase	Affymetrix [2073674] (imputed)	N
1164	chr17	75944649	75944650	rs16970672	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	17q25.3	AC015804.1	rs16970672-?	0.29	2E-6		1.29	[NR]	Illumina [1847262] (imputed)	N
1165	chr17	76110517	76110518	rs2613514	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	17q25.3	TNRC6C	rs2613514-G	0.22	3E-6	(AA-triglyceride response)	20.12	[11.65-28.59] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
1166	chr17	76219590	76219591	rs2071214	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	17q25.3	NR	rs2071214-G	0.054	8E-6	(Non-substance related behavioral disinhibition)			Illumina [527829]	N
1166	chr17	76219944	76219945	rs17879146	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	17q25.3	BIRC5	rs17879146-T	0.99	1E-6	(Age 20-60 years)	0.2549	[0.15-0.36] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1166	chr17	76280559	76280560	rs9302874	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	17q25.3	RP11-219G17.4	rs9302874-?	NR	2E-7	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
1167	chr17	76304509	76304510	rs8081523	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	17q25.3	BIRC5, SOCS3	rs8081523-?	NR	5E-6		0.13	[0.075-0.185] unit increase	Illumina [> 2500000] (imputed)	N
1167	chr17	76311990	76311991	rs4789580	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	NR	rs4789580-G	0.203878510467706	9E-6	(IGP49)	0.2275	[0.13-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
1167	chr17	76382790	76382791	rs12948394	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	17q25.3	PGS1	rs12948394-C	0.55	4E-8		0.034	[0.022-0.046] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1167	chr17	76403983	76403984	rs4129767	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	17q25.3	PGS1	rs4129767-G	0.48	2E-11		0.024	[NR] unit decrease	NR [NR] (imputed)	N
1167	chr17	76403983	76403984	rs4129767	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	17q25.3	PGS1	rs4129767-G	0.48	5E-9		0.4	[0.24-0.56] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1168	chr17	76439360	76439361	rs72925845	24886709	Ko A	2014-06-02	Nat Commun	Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.	Triglycerides	1,678 Mexican ancestry high triglyceride cases, 1,645 Mexican ancestry low triglyceride controls	2,129 Mexican ancestry high triglyceride cases, 2,985 Mexican ancestry low triglyceride controls, 903 Mexican ancestry individuals from 73 dyslipidemic families	17q25.3	DNAH17	rs72925845-?	NR	7E-9		1.64	[1.3-2.08]	Illumina [1661241] (imputed)	N
1169	chr17	76633964	76633965	rs4796827	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety and major depressive disorder	1,080 European ancestry cases, 1,588 European ancestry controls	NA	17q25.3	CYTH1	rs4796827-A	0.409	2E-6		1.326	[NR]	Illumina [471581]	N
1170	chr17	76737117	76737118	rs17736589	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	17q25.3	intergenic	rs17736589-G	0.2075	4E-8	(EA)	1.0858142	[1.06-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1171	chr17	76868613	76868614	rs9900972	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q25.3	TIMP2	rs9900972-A	0.139	8E-6	(Head circumference )	0.02	[NR] cm increase	Illumina [899892]	N
1171	chr17	76870580	76870581	rs2009196	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	17q25.3	TIMP2	rs2009196-C	0.23	2E-6	(Age 20-81 years)	1.41	[1.22-1.62]	Affymetrix, Illumina [up to 17585496] (imputed)	N
1171	chr17	76881702	76881703	rs4789939	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	17q25.3	AC100788.1, TIMP2	rs4789939-?	0.86	6E-7		1.22	[1.11-1.35]	Illumina [234939]	N
1171	chr17	76893134	76893135	rs3744790	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	17q25.3	NR	rs3744790-?	0.8	8E-7		1.54	[NR]	Illumina [1468075]	N
1172	chr17	76988784	76988785	rs11891	25886283	Chang X	2015-04-17	PLoS One	Genome-wide association study of serum minerals levels in children of different ethnic background.	Magnesium levels	2,317 European ancestry children, 1,283 African-American ancestry children	NA	17q25.3	NR	rs11891-T	NR	7E-6		0.0322	[NR] mg/dl decrease	Illumina [up to 509150]	N
1174	chr17	77265877	77265878	rs1000791	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	17q25.3	RBFOX3	rs1000791-T	0.91	4E-7	(women)	0.209	[0.13-0.29] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1174	chr17	77273512	77273513	rs898534	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	up to 15,007 European ancestry male individuals, up to 16,943 European ancestry female individuals	NA	17q25.3	RBFOX3	rs898534-G	0.88	2E-6	(Women)	0.016758949	[0.0098-0.0237] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1174	chr17	77273512	77273513	rs898534	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	28,610 European ancestry individuals	13,959 European ancestry individuals	17q25.3	RBFOX3	rs898534-G	0.88	3E-8	(Combined gender)	0.014	[0.0081-0.0199] unit decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
1174	chr17	77305202	77305203	rs79211555	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	17q25.3	NR	rs79211555-?	NR	3E-8	(AA)	1.6521	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1174	chr17	77305202	77305203	rs79211555	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	17q25.3	NR	rs79211555-?	NR	3E-9	(AA)	1.5956	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1175	chr17	77410858	77410859	rs1316453	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	17q25.3	intergenic	rs1316453-C	0.3466	7E-6		0.0624	[0.035-0.090] unit increase	Illumina [2400000] (imputed)	N
1175	chr17	77449094	77449095	rs12450239	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q25.3	RBFOX3	rs12450239-A	0.258	4E-6	(EA, women)	0.026	[0.015-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1178	chr17	77804839	77804840	rs9747992	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	17q25.3	CBX4	rs9747992-?	0.086	2E-7	(S-DCT concentration)			Illumina [7537437] (imputed)	N
1178	chr17	77839810	77839811	rs4889911	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	17q25.3	intergenic	rs4889911-?	NR	6E-6	(Alpha peak frequency, occipital	0.095	[0.054-0.136] unit decrease	Illumina [527829]	N
1179	chr17	77889054	77889055	rs1663189	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	17q25.3	NR	rs1663189-T	NR	6E-6	(phenotype 2)	1.79	[NR]	Illumina [> 8000000] (imputed)	N
1180	chr17	78060742	78060743	rs1467979	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	NR	rs1467979-C	0.823196467468806	3E-6	(IGP28)	0.186	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1180	chr17	78060742	78060743	rs1467979	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	NR	rs1467979-C	0.82313228539626	2E-6	(IGP15)	0.1923	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
1180	chr17	78066616	78066617	rs2361701	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	NR	rs2361701-G	0.823049887254902	4E-6	(IGP28)	0.1856	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
1182	chr17	78324258	78324259	rs12051723	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity change in response to statin therapy	2,673 European ancestry cases, 2,656 European ancestry controls	NA	17q25.3	RNF213	rs12051723-T	0.14	3E-6	(percent change)	2.2	[1.22-3.18] percent increase	Illumina [796174]	N
1182	chr17	78348493	78348494	rs6565681	21048783	Kamada F	2010-11-04	J Hum Genet	A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.	Moyamoya disease	72 Japanese ancestry cases, 45 Japanese ancestry controls	63 Japanese ancestry cases, 45 Japanese ancestry controls	17q25.3	RNF213	rs6565681-A	0.37	2E-8		4.82	[2.73-8.49]	Illumina [785720]	N
1183	chr17	78511326	78511327	rs28587833	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17q25.3	NR	rs28587833-G	NR	8E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1184	chr17	78591110	78591111	rs7503807	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	17q25.3	RPTOR	rs7503807-A	0.57	2E-8	(Overweight)	1.04	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1184	chr17	78615570	78615571	rs12940622	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q25.3	RPTOR	rs12940622-G	0.577	5E-7	(EA, men)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1184	chr17	78615570	78615571	rs12940622	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q25.3	RPTOR	rs12940622-G	0.575	2E-9	(EA)	0.018	[0.012-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1184	chr17	78615570	78615571	rs12940622	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	17q25.3	RPTOR	rs12940622-G	0.572	4E-10		0.018	[0.013-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1184	chr17	78625755	78625756	rs8066384	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	17q25.3	NR	rs8066384-C	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
1185	chr17	78737286	78737287	rs7215564	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		17q25.3	KIAA1303	rs7215564-?	0.1	2E-6			[NR]	Affymetrix, Illumina [152234]	N
1186	chr17	78781650	78781651	rs2672886	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	17q25.3	RPTOR	rs2672886-C	0.457	9E-6	(Continous PC20)	0.051	[NR] unit increase	Illumina [546355]	N
1187	chr17	79024636	79024637	rs8067235	24392092	Luksys G	2014-01-02	PLoS One	BAIAP2 is related to emotional modulation of human memory strength.	Memory performance	1,241 European ancestry individuals	NA	17q25.3	BAIAP2	rs8067235-?	NR	6E-8				Affymetrix [587111]	N
1188	chr17	79118572	79118573	rs7220048	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	17q25.3	AATK	rs7220048-G	0.496	9E-6	(RQmax)	0.04	[NR] increase	Illumina [899892]	N
1189	chr17	79168267	79168268	rs2279913	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	NR	rs2279913-C	0.439263302273741	4E-7	(IGP35)	0.1579	[0.097-0.219] unit increase	Illumina [~ 2500000] (imputed)	N
1189	chr17	79173461	79173462	rs906175	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	ENTHD2, C17orf89, CEP131	rs906175-T,rs2659030-A,rs2725391-T,rs969413-A,rs1048775-C,rs9319617-T,rs2255166-C	0.43	4E-6		1.45	[1.23-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79173461	79173462	rs906175	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79173461	79173462	rs906175	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs2725391-?,rs969413-?,rs1048775-?,rs9319617-?,rs2255166-?	NR	8E-7		1.49	[1.27-1.72]	Illumina [2292247] (imputed)	N
1189	chr17	79173461	79173462	rs906175	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	C17orf89, CEP131, ENTHD2	rs906175-T	0.48	1E-7		1.58	[1.33-1.87]	Illumina [2292247] (imputed)	N
1189	chr17	79177973	79177974	rs2659030	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	ENTHD2, C17orf89, CEP131	rs906175-T,rs2659030-A,rs2725391-T,rs969413-A,rs1048775-C,rs9319617-T,rs2255166-C	0.43	4E-6		1.45	[1.23-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79177973	79177974	rs2659030	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79177973	79177974	rs2659030	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs2725391-?,rs969413-?,rs1048775-?,rs9319617-?,rs2255166-?	NR	8E-7		1.49	[1.27-1.72]	Illumina [2292247] (imputed)	N
1189	chr17	79178195	79178196	rs9912789	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79191725	79191726	rs9896850	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79192429	79192430	rs2725391	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	ENTHD2, C17orf89, CEP131	rs906175-T,rs2659030-A,rs2725391-T,rs969413-A,rs1048775-C,rs9319617-T,rs2255166-C	0.43	4E-6		1.45	[1.23-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79192429	79192430	rs2725391	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79192429	79192430	rs2725391	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs2725391-?,rs969413-?,rs1048775-?,rs9319617-?,rs2255166-?	NR	8E-7		1.49	[1.27-1.72]	Illumina [2292247] (imputed)	N
1189	chr17	79192445	79192446	rs9319617	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	ENTHD2, C17orf89, CEP131	rs906175-T,rs2659030-A,rs2725391-T,rs969413-A,rs1048775-C,rs9319617-T,rs2255166-C	0.43	4E-6		1.45	[1.23-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79192445	79192446	rs9319617	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79192445	79192446	rs9319617	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs2725391-?,rs969413-?,rs1048775-?,rs9319617-?,rs2255166-?	NR	8E-7		1.49	[1.27-1.72]	Illumina [2292247] (imputed)	N
1189	chr17	79194004	79194005	rs12939525	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79195020	79195021	rs8073077	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79195813	79195814	rs969413	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	ENTHD2, C17orf89, CEP131	rs906175-T,rs2659030-A,rs2725391-T,rs969413-A,rs1048775-C,rs9319617-T,rs2255166-C	0.43	4E-6		1.45	[1.23-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79195813	79195814	rs969413	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79195813	79195814	rs969413	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs2725391-?,rs969413-?,rs1048775-?,rs9319617-?,rs2255166-?	NR	8E-7		1.49	[1.27-1.72]	Illumina [2292247] (imputed)	N
1189	chr17	79202328	79202329	rs1048775	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	ENTHD2, C17orf89, CEP131	rs906175-T,rs2659030-A,rs2725391-T,rs969413-A,rs1048775-C,rs9319617-T,rs2255166-C	0.43	4E-6		1.45	[1.23-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79202328	79202329	rs1048775	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79202328	79202329	rs1048775	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs2725391-?,rs969413-?,rs1048775-?,rs9319617-?,rs2255166-?	NR	8E-7		1.49	[1.27-1.72]	Illumina [2292247] (imputed)	N
1189	chr17	79213561	79213562	rs2255166	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	ENTHD2, C17orf89, CEP131	rs906175-T,rs2659030-A,rs2725391-T,rs969413-A,rs1048775-C,rs9319617-T,rs2255166-C	0.43	4E-6		1.45	[1.23-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79213561	79213562	rs2255166	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79213561	79213562	rs2255166	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs2725391-?,rs969413-?,rs1048775-?,rs9319617-?,rs2255166-?	NR	8E-7		1.49	[1.27-1.72]	Illumina [2292247] (imputed)	N
1189	chr17	79218713	79218714	rs2659005	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	17q25.3	CEP131, ENTHD2, C17orf89	rs906175-?,rs2659030-?,rs9912789-?,rs9896850-?,rs2725391-?,rs9319617-?,rs12939525-?,rs8073077-?,rs969413-?,rs1048775-?,rs2255166-?,rs2659005-?	NR	7E-6		1.44	[1.22-1.69]	Illumina [2292247] (imputed)	N
1189	chr17	79218713	79218714	rs2659005	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	NR	rs2659005-C	0.517358149665924	3E-7	(IGP24)	0.1648	[0.1-0.23] unit decrease	Illumina [~ 2500000] (imputed)	N
1189	chr17	79218713	79218714	rs2659005	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	NR	rs2659005-C	0.517323975066785	4E-7	(IGP26)	0.1653	[0.1-0.23] unit decrease	Illumina [~ 2500000] (imputed)	N
1189	chr17	79218713	79218714	rs2659005	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	NR	rs2659005-C	0.517316186025812	2E-6	(IGP17)	0.1537	[0.09-0.217] unit decrease	Illumina [~ 2500000] (imputed)	N
1189	chr17	79218713	79218714	rs2659005	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	NR	rs2659005-C	0.517261684187082	9E-6	(IGP29)	0.1441	[0.08-0.208] unit decrease	Illumina [~ 2500000] (imputed)	N
1189	chr17	79235787	79235788	rs7224668	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	17q25.3	SLC38A10	rs7224668-C	0.524575415405165	3E-8	(IGP31)	0.1729	[0.11-0.23] unit increase	Illumina [~ 2500000] (imputed)	N
1189	chr17	79261808	79261809	rs10445407	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	17q25.3	SLC38A10	rs10445407-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1192	chr17	79596810	79596811	rs9894429	20463881	Liu F	2010-05-16	PLoS Genet	Digital quantification of human eye color highlights genetic association of three new loci.	Eye color traits	5,951 European ancestry individuals	3,543 European ancestry individuals	17q25.3	NPLOC4, HGS	rs9894429-T	NR	9E-14	(CHS1)	0.12	[NR] % increase	Illumina [2543887] (imputed)	N
1192	chr17	79682050	79682051	rs3204270	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	17q25.3	SLC25A10	rs3204270-?	NR	5E-6	(Comparatively Older)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1196	chr17	80086394	80086395	rs4625783	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	17q25.3	CCDC57	rs4625783-T	0.43	4E-13	(3-(4-hydroxyphenyl)lactate)	0.019	[0.013-0.025] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1197	chr17	80242122	80242123	rs8072599	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	17q25.3	NR	rs8072599-?	NR	2E-6	(Japanese)	0.7355	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1198	chr17	80405551	80405552	rs3751913	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	17q25.3	C17orf62	rs3751913-C	0.121	2E-7		1.23	[1.14-1.33]	Illumina [up to 21554489]	N
1198	chr17	80408814	80408815	rs9303029	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	17q25.3	C17orf62	rs9303029-?	0.08	4E-7	(Free IGF1)			Illumina [496032]	N
1199	chr17	80524183	80524184	rs78461346	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	17q25.3	NR	rs78461346-?	NR	8E-6	(AA)	1.2145	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1200	chr17	80685425	80685426	rs1046875	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	17q25.3	FN3K	rs1046875-A	0.49	4E-17		0.08	[0.060-0.100] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
1200	chr17	80685532	80685533	rs1046896	24244560	Chen P	2013-11-07	PLoS One	A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.	Glycated hemoglobin levels	3,427 Chinese ancestry individuals, 1,735 Malay ancestry individuals, 1,520 Asian Indian ancestry individuals	NA	17q25.3	FN3K	rs1046896-T	0.47	2E-7	(HbA1c)	0.031	[0.019-0.043] unit increase	Illumina [up to 2400000] (imputed)	N
1200	chr17	80685532	80685533	rs1046896	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	17q25.3	FN3K	rs1046896-T	0.31	2E-26		0.04	[0.03-0.05] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1202	chr17	80898087	80898088	rs9896933	26025128	Park HW	2015-05-27	J Allergy Clin Immunol	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.	Bone mineral accretion in asthma (oral corticosteroid dose interaction)	489 European ancestry children	NA	17q25.3	TBCD	rs9896933-?		3E-8				Illumina [NR]	N
585	chr18	120295	120296	rs57440971	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	18p11.32	ROCK1P1	rs57440971-T	0.06	4E-6	(Age 20-60 years)	0.1413	[0.082-0.201] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
587	chr18	278795	278796	rs7226677	20351715	Liu Y	2010-03-30	Mol Psychiatry	Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.	Bipolar disorder or major depressive disorder (combined)	4,387 European ancestry bipolar cases, 1,695 European ancestry major depressive disorder cases, 7,970 European ancestry controls	NA	18p11.32	COLEC12, THOC1	rs7226677-?	NR	4E-6				Affymetrix, Perlegen [1472580] (imputed)	N
587	chr18	278795	278796	rs7226677	18711365	Ferreira MA	2008-08-17	Nat Genet	Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.	Bipolar disorder	4,387 European ancestry cases, 6,209 European ancestry controls	NA	18p11.32	NR	rs7226677-G	0.12	7E-6		1.24	[NR]	Affymetrix [1769948] (imputed)	N
587	chr18	322521	322522	rs621636	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.32	COLEC12	rs621636-A	0.131	3E-6	(Hcy )	0.03	[NR] umol/L increase	Illumina [899892]	N
587	chr18	355943	355944	rs644435	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.32	COLEC12	rs644435-G	0.326	4E-6	(Bike energy expenditure )	0.03	[NR] kcal/min increase	Illumina [899892]	N
589	chr18	618123	618124	rs518471	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	18p11.32	CLUL1	rs518471-?	NR	6E-6	(Alpha power, occipital)	0.125	[0.072-0.178] unit decrease	Illumina [527829]	N
591	chr18	807367	807368	rs11664027	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.32	YES1	rs11664027-?	NR	3E-7				Affymetrix [5486770] (imputed)	N
591	chr18	849177	849178	rs1291183	23541324	Li X	2013-03-27	J Allergy Clin Immunol	Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.	Pulmonary function in asthmatics	1,544 European ancestry individuals		18p11.32	YES1	rs1291183-T	0.30	4E-6	(ppFEV1)	0.18	[NR] unit decrease	Illumina [369771]	N
591	chr18	905124	905125	rs1893154	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.32	ADCYAP1	rs1893154-A	0.401	3E-6	(HDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
594	chr18	1206983	1206984	rs1826508	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Dihydroxy docosatrienoic acid)	1,260 African American individuals	NA	18p11.32	LOC100130247	rs1826508-C		4E-6		0.08	[0.04-0.11] unit increase	Affymetrix [~ 2500000] (imputed)	N
595	chr18	1366300	1366301	rs1146075	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.32	NR	rs1146075-?	NR	5E-7				Affymetrix [5486770] (imputed)	N
596	chr18	1471412	1471413	rs1876449	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	18p11.32	ADCYAP1	rs1876449-A	NR	9E-6		4.438	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
597	chr18	1595020	1595021	rs8097348	19727025	De Moor MH	2009-09-02	Med Sci Sports Exerc	Genome-wide association study of exercise behavior in Dutch and American adults.	Exercise (leisure time)	2,622 European ancestry individuals	NA	18p11.32	C18orf2	rs8097348-G	NR	7E-6		1.36	[1.19-1.56]	Affymetrix, Perlegen [~ 1600000] (imputed)	N
598	chr18	1807673	1807674	rs9964595	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.32	NR	rs9964595-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
598	chr18	1818384	1818385	rs2345595	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.32	NR	rs2345595-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
599	chr18	1850770	1850771	rs7226371	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18p11.32	LINC00470	rs7226371-G	0.184	4E-6		0.019	[0.011-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
599	chr18	1850770	1850771	rs7226371	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18p11.32	LINC00470	rs7226371-G	0.158	3E-6	(EA, men)	0.026	[0.015-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
599	chr18	1850770	1850771	rs7226371	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18p11.32	LINC00470	rs7226371-G	0.158	2E-6	(EA)	0.021	[0.012-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
599	chr18	1872316	1872317	rs1992269	26049409	Hirano A	2015-06-05	Psychiatr Genet	A genome-wide association study of late-onset Alzheimer's disease in a Japanese population.	Alzheimer's disease (late onset)	489 Japanese ancestry APOE-?4 noncarrier cases, 6,463 Japanese ancestry APOE-?4 noncarrier controls, 323 Japanese ancestry APOE-?4 carrier cases, 1,484 Japanese ancestry APOE-?4 carrier controls, 4 Japanese ancestry cases, 45 Japanese ancestry controls	528 Japanese ancestry APOE-?4 noncarrier cases, 5,824 Japanese ancestry APOE-?4 noncarrier controls, 480 Japanese ancestry APOE-?4 carrier cases, 1,364 Japanese ancestry APOE-?4 carrier controls, 3 Japanese ancestry cases, 24 Japanese ancestry controls	18p11.32	intergenic	rs1992269-A	0.076	1E-6		1.66	[1.35-2.03]	Illumina [561143]	N
600	chr18	1971192	1971193	rs7239865	25742292	Aschebrook-Kilfoy B	2015-03-05	PLoS One	Genome-wide association study of parity in bangladeshi women.	Number of children (6+ vs. 0 or 1)	1,686 Bangladeshi women	NA	18p11.32	NR	rs7239865-?		6E-6		0.08	unit increase	Illumina [1211988] (imputed)	N
600	chr18	1977712	1977713	rs6505987	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.32	NR	rs6505987-?	NR	3E-8				Affymetrix [5486770] (imputed)	N
600	chr18	1984420	1984421	rs56728521	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	18p11.32	METTL4	rs56728521-A	0.92	7E-6	(Right HG area)	8.65	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
603	chr18	2452176	2452177	rs3914785	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.32	NR	rs3914785-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
604	chr18	2498053	2498054	rs1879352	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	18p11.32	intergenic	rs1879352-C	0.16	9E-6		1.53	[1.20-1.80]	Affymetrix [307944]	N
604	chr18	2507424	2507425	rs4797996	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18p11.32	NR	rs4797996-?	NR	2E-6	(AA)	0.3058	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
604	chr18	2614474	2614475	rs182046301	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.32	NR	rs182046301-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
605	chr18	2739732	2739733	rs11872184	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	18p11.32	SMCHD1	rs11872184-?		4E-6	(EA, Inherited)	4.08	[2.15-7.74]	Illumina [2421290] (imputed)	N
606	chr18	2865504	2865505	rs28877609	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.32	NR	rs28877609-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
607	chr18	2946290	2946291	rs643507	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in asthmatics	1,881 European ancestry children, 810 children, 2,643 European ancestry adult individuals, 817 adult individuals	979 European ancestry children, 921 Hispanic children, 120 children	18p11.31	LPIN2	rs643507-C	0.01	8E-9	(adult)			Illumina [up to 536451]	N
607	chr18	2948028	2948029	rs10460009	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	18p11.31	LPIN2	rs10460009-C	0.60	9E-6	(Malay)	1.35	[1.18-1.54]	Illumina [~ 2000000] (imputed)	N
607	chr18	2967844	2967845	rs8087073	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.31	NR	rs8087073-?	NR	1E-9				Affymetrix [5486770] (imputed)	N
608	chr18	3041396	3041397	rs78192384	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	18p11.31	NR	rs78192384-A	0.03	7E-6		0.27	[0.15-0.39] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
610	chr18	3328745	3328746	rs1623523	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	18p11.31	MRLC2	rs1623523-?	NR	3E-6				Affymetrix [NR]	N
610	chr18	3394448	3394449	rs6506122	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	18p11.31	TGIF1, MYL12B	rs6506122-C	NR	5E-6	(LJC)	1.82	[1.06-2.58] unit increase	Illumina [586062]	N
611	chr18	3415830	3415831	rs12457997	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	18p11.31	TGIF1	rs12457997-T	0.67	5E-6	(Age 20-60 years)	0.1663	[0.096-0.237] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
611	chr18	3465131	3465132	rs58882377	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.31	NR	rs58882377-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
611	chr18	3512215	3512216	rs17724172	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	18p11.31	DLGAP1	rs17724172-C	NR	9E-6	(Dichotomous variable)	2.04	[1.49-2.78]	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr18	3522005	3522006	rs8083633	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	18p11.31	DLGAP1	rs8083633-T	NR	1E-6		0.154	[0.091-0.217] unit increase	Illumina [628922]	N
614	chr18	3814147	3814148	rs3786431	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.31	NR	rs3786431-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
614	chr18	3817133	3817134	rs12607903	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	18p11.31	DLGAP1	rs12607903-C	0.3	5E-11		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
614	chr18	3879738	3879739	rs76205593	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.31	DLGAP1	rs76205593-C	0.07	7E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
618	chr18	4395499	4395500	rs146408330	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	18p11.31	NR	rs146408330-?		7E-7	(PCB194)	1.53	[0.92-2.14] unit decrease	Illumina [8736858] (imputed)	N
619	chr18	4539084	4539085	rs7228133	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)	294 Japanese ancestry cases, 2,249 Japanese ancestry controls	NA	18p11.31	LOC284215	rs7228133-C	0.686	2E-6	(Recessive model)	1.255	[1.034-1.522]	Illumina [733202]	N
621	chr18	4721358	4721359	rs1557305	22911880	Boraska V	2012-08-22	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.	Eating disorders	Up to 2,567 European ancestry individuals	Up to 767 European ancestry cases, up to 486  European ancestry controls	18p11.31	DLGAP1	rs1557305-C	0.628	5E-6	(OCPD)	1.11	[1.06-1.16]	Illumina [283744]	N
621	chr18	4773109	4773110	rs7237848	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	18p11.31	intergenic	rs7237848-T	0.33	2E-7	(lymphocyte count)	0.067	[0.04-0.10] unit increase	Illumina [2178645] (imputed)	N
622	chr18	4980407	4980408	rs8099121	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18p11.31	NR	rs8099121-A	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
623	chr18	5030022	5030023	rs6506284	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	18p11.31	C18orf42	rs6506284-?	NR	3E-6		0.32	[0.18-0.46] unit increase	Illumina [1075436] (imputed)	N
627	chr18	5529674	5529675	rs1539809	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	18p11.31	EPB41L3	rs1539809-T	0.04	2E-6	(Age 17)	0.33	[0.19-0.47] unit increase	Illumina [2293137] (imputed)	N
627	chr18	5578981	5578982	rs11664536	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	18p11.31	EPB41L3	rs11664536-?	NR	6E-6	(EA)	3.19	[1.82-4.56] unit decrease	Affymetrix, Illumina [2033301]	N
628	chr18	5762617	5762618	rs11662748	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.31	LOC645355	rs11662748-A	0.114	1E-6	(Sleep duration )	0.03	[NR] min/d increase	Illumina [899892]	N
629	chr18	5857090	5857091	rs11662763	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	18p11.31	L3MBTL4	rs11662763-?	0.85	5E-6		1.56	[1.30-1.89]	Illumina [2057134] (imputed)	N
630	chr18	5978930	5978931	rs1539808	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep time	2,322 European ancestry individuals	NA	18p11.31	L3MBTL4	rs1539808-T	0.01	4E-6		44.44	[25.55-63.33] unit increase	Illumina [2380486] (imputed)	N
634	chr18	6522755	6522756	rs7506840	26025128	Park HW	2015-05-27	J Allergy Clin Immunol	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.	Bone mineral accretion in asthma (oral corticosteroid dose interaction)	489 European ancestry children	NA	18p11.31	LOC100130480	rs7506840-?		9E-8				Illumina [NR]	N
635	chr18	6567181	6567182	rs948426	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	18p11.31	LOC100130480	rs948426-A	0.602	1E-6		1.14	[1.08-1.19]	Illumina [870065]	N
635	chr18	6668049	6668050	rs11662297	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.31	ARHGAP28	rs11662297-G	0.369	4E-6	(Leptin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
637	chr18	6894474	6894475	rs77741790	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18p11.31	NR	rs77741790-?	NR	4E-6	(Native Hawaiian)	0.3788	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
637	chr18	6939946	6939947	rs597503	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	18p11.31	intergenic	rs597503-?	0.13	2E-8	(Recessive)	1.45	[1.27-1.65]	Affymetrix [319222]	N
637	chr18	6941107	6941108	rs4398173	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	18p11.31	LAMA1	rs4398173-G	NR	4E-6	(EA - Overall tolerability)			Affymetrix [421789]	N
637	chr18	6941661	6941662	rs3810046	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	18p11.31	LAMA1	rs3810046-T	0.456	5E-7	(EA + AA - Overall tolerability)			Affymetrix [421789]	N
638	chr18	7042910	7042911	rs16951095	20876614	Yoon KA	2010-09-28	Hum Mol Genet	A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population.	Non-small cell lung cancer	621 Korean ancestry cases, 1,541 Korean ancestry controls	804 Korean ancestry cases, 1,470 Korean ancestry controls	18p11.31	NR	rs16951095-C	0.78	7E-6		1.3	[1.10-1.54]	Affymetrix [246758]	N
638	chr18	7068461	7068462	rs8090011	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	18p11.31	LAMA1	rs8090011-G	0.38	8E-9	(Lean)	1.13	[1.09-1.18]	NR [NR]	N
639	chr18	7172522	7172523	rs9675861	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	18p11.31	NR	rs9675861-?	NR	1E-6	(Japanese)	0.395	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
644	chr18	7755770	7755771	rs7243299	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	18p11.23	PTPRM	rs7243299-?	0.10	8E-6		1.63	[1.31-2.03]	Affymetrix [832357]	N
646	chr18	8043660	8043661	rs9950590	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	18p11.23	PTPRM	rs9950590-?		5E-6	(AIRg)	11.99	[6.66-17.32] unit increase	Illumina [693128]	N
647	chr18	8209268	8209269	rs8098064	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	18p11.23	PTPRM	rs8098064-?	0.26	4E-6		1.42	[1.22-1.65]	Affymetrix [832357]	N
648	chr18	8275856	8275857	rs6506569	24583629	Senapati S	2014-02-27	Pharmacogenet Genomics	Genome-wide analysis of methotrexate pharmacogenomics in rheumatoid arthritis shows multiple novel risk variants and leads for TYMS regulation.	Response to methotrexate in rheumatoid arthritis	281 Indian ancestry good responder cases, 157 Indian ancestry poor responder cases	NA	18p11.23	PTPRM	rs6506569-G	0.54	7E-6		1.98	[1.46-2.67]	Illumina [432662]	N
648	chr18	8321896	8321912	rs140449984	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	18p11.23	PTPRM	rs140449984-T	0.075	7E-7	(EA)	0.104	[0.067-0.141] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
648	chr18	8323983	8323984	rs681383	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	18p11.23	NR	rs681383-T	0.078	5E-8	(EA)	0.099	[0.064-0.134] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
649	chr18	8479684	8479685	rs12185468	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18p11.23	NR	rs12185468-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
650	chr18	8536115	8536116	rs9961574	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	18p11.22	NR	rs9961574-G	NR	3E-6	(phenotype 1)	2.33	[NR]	Illumina [> 8000000] (imputed)	N
650	chr18	8536115	8536116	rs9961574	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	18p11.22	NR	rs9961574-G	NR	3E-6	(phenotype 3)	2.33	[NR]	Illumina [> 8000000] (imputed)	N
651	chr18	8667060	8667061	rs12458130	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	18p11.22	RP11-674N23.1	rs12458130-?	NR	4E-16	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
651	chr18	8716320	8716321	rs2111836	25824743	Haryono SJ	2015-01-01	Asian Pac J Cancer Prev	A Pilot Genome-wide Association Study of Breast Cancer Susceptibility Loci in Indonesia.	Breast cancer	89 Indonesian ancestry cases, 46 Indonesian ancestry controls	NA	18p11.22	SOGA2	rs2111836-G	0.22	7E-6		1.32	[1.17-1.44]	Affymetrix [292887]	N
653	chr18	8931651	8931652	rs7244245	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	18p11.22	intergenic	rs7244245-?		1E-6	(EA)	5.365	[NR]	Illumina [936149]	N
653	chr18	8966143	8966144	rs10502386	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.22	RPS4XP19	rs10502386-A	0.373	7E-6	(Sitting height )	0.01	[NR] cm increase	Illumina [899892]	N
653	chr18	8966143	8966144	rs10502386	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.22	RPS4XP19	rs10502386-A	0.373	6E-6	(Height )	0.02	[NR] cm increase	Illumina [899892]	N
653	chr18	8966143	8966144	rs10502386	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.22	RPS4XP19	rs10502386-A	0.373	5E-6	(Sleep energy expenditure )	0.03	[NR] kcal/d increase	Illumina [899892]	N
653	chr18	8966143	8966144	rs10502386	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18p11.22	RPS4XP19	rs10502386-A	0.373	1E-6	(Bone mineral content )	0.03	[NR] kg increase	Illumina [899892]	N
653	chr18	9027913	9027914	rs11663316	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	18p11.22	NDUFV2	rs11663316-?	0.07	6E-7		4.2	[NR]	Affymetrix [4893794] (imputed)	N
655	chr18	9288455	9288456	rs2864527	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	18p11.22	TWSG1	rs2864527-?	NR	4E-6	(DMFS2)			Illumina [518997]	N
655	chr18	9296523	9296524	rs12605822	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	18p11.22	ANKRD12	rs12605822-A	NR	4E-7	(Perc15, Cases)	3.3	[0.56-6.04] unit decrease	Illumina [7600000] (imputed)	N
655	chr18	9296523	9296524	rs12605822	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	18p11.22	ANKRD12	rs12605822-A	NR	4E-7	(%LAA-950, Cases)	0.17	[0.029-0.311] unit increase	Illumina [7600000] (imputed)	N
659	chr18	9784913	9784914	rs7233332	24954895	Simino J	2014-06-19	Am J Hum Genet	Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.	Blood pressure (age interaction)	55,796 European ancestry individuals	43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals	18p11.22	RAB31	rs7233332-G	0.61	6E-6	(EA, PP)	0.0232	[0.013-0.033] mmHg increase per 1 year increase in age	Affymetrix, Illumina [~ 2500000] (imputed)	N
661	chr18	10078070	10078071	rs8089099	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	18p11.22	TXNDC2, VAPA	rs8089099-A	NR	4E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
661	chr18	10078070	10078071	rs8089099	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	18p11.22	TXNDC2, VAPA	rs8089099-A	NR	3E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
663	chr18	10321346	10321347	rs206626	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels (Pyroglutamine)	1,260 African American individuals	NA	18p11.22	APCDD1	rs206626-A		2E-6		0.13	[0.07-0.18] unit increase	Affymetrix [~ 2500000] (imputed)	N
664	chr18	10382882	10382883	rs206548	23999434	Ho JE	2013-09-03	J Clin Invest	Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.	Serum protein levels (sST2)	2,797 individuals	NA	18p11.22	APCDD1	rs206548-T	0.48	9E7				Affymetrix [2500000] (imputed)	N
664	chr18	10443692	10443693	rs7239679	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	18p11.22	intergenic	rs7239679-T	0.45	4E-6	(Primary)	0.2971	[0.17-0.42] unit increase	Affymetrix, Illumina [NR] (imputed)	N
665	chr18	10592712	10592713	rs8098600	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18p11.22	NR	rs8098600-?	NR	8E-6	(AA)	0.3827	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
666	chr18	10695156	10695157	rs8093481	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	18p11.22	PIEZO2	rs8093481-A	0.656	1E-6	(Trend model)	1.79	[1.16-2.77]	Illumina [508761]	N
667	chr18	10766424	10766425	rs2865126	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (5-HIAA/ MHPG Ratio)	up to 398 European ancestry individuals	NA	18p11.22	PIEZO2	rs2865126-A		8E-6		0.2663	unit increase	Illumina [5767231] (imputed)	N
668	chr18	10899027	10899028	rs11080466	21866343	Ahn MJ	2011-08-25	Hum Genet	The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations.	Non-small cell lung cancer	445 Korean ancestry cases, 497 Korean ancestry controls	396 Korean ancestry cases, 998 Korean ancestry controls	18p11.22	APCDD1, NAPG, FAM38B	rs11080466-C	NR	1E-6		1.47	[1.27-1.72]	Affymetrix [474503]	N
668	chr18	10923807	10923808	rs264272	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	18p11.21	FAM38B	rs264272-T	0.4874733	3E-6	(% improvement - SSRI treated - 12 weeks)	0.1712	[0.099-0.243] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
668	chr18	10923807	10923808	rs264272	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	18p11.21	FAM38B	rs264272-G	0.52	4E-6	(% improvement - 12 weeks)	1.144	[1.09-1.2]	Affymetrix, Illumina [1200000] (imputed)	N
669	chr18	11064408	11064409	rs12455924	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	18p11.21	FAM38B	rs12455924-T	0.36	3E-7	(AA-triglyceride response)	17.88	[11.04-24.72] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
671	chr18	11282318	11282319	rs7243066	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	18p11.21	C18orf58	rs7243066-?	NR	9E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
672	chr18	11494198	11494199	rs1455244	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	18p11.21	intergenic	rs1455244-?	NR	3E-6	(Negative/disorganized symptoms)	0.0605	[NR] unit decrease	Affymetrix [696491]	N
673	chr18	11583446	11583447	rs4797559	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (total eye scanning length)	128 Han Chinese ancestry cases	NA	18p11.21	NR	rs4797559-?		6E-6		79.27	[41.62-116.92] unit increase	Illumina [498648]	N
674	chr18	11712921	11712922	rs75433892	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	18p11.21	GNAL	rs75433892-A	0.01	2E-6		3.7037036	[3.17-4.23]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
674	chr18	11737230	11737231	rs77292326	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Tandem gait	2,946 individuals	NA	18p11.21	GNAL	rs77292326-A	0.06	4E-7		0.294	[0.18-0.41] unit decrease	Illumina [6200000] (imputed)	N
674	chr18	11759431	11759432	rs9947295	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	18p11.21	GNAL	rs9947295-T	0.11	8E-6	(UAZ Cert)			Affymetrix, Illumina [~ 2500000] (imputed)	N
676	chr18	11987271	11987272	rs7506045	17434096	Matarin M	2007-05-06	Lancet Neurol	A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.	Stroke	259 European ancestry cases, 269 European ancestry controls	NA	18p11.21	IMPA2	rs7506045-?	0.10	7E-7		5.39	[2.77-10.5]	Illumina [408803]	N
680	chr18	12550746	12550747	rs1940973	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	18p11.21	SPIRE1	rs1940973-?		8E-7	(AA)			Illumina [NR]	N
681	chr18	12606462	12606463	rs9959145	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	18p11.21	SPIRE1	rs9959145-?		3E-8	(AA)			Illumina [NR]	N
682	chr18	12777324	12777325	rs7237497	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	18p11.21	RP11-973H7.1	rs7237497-?	NR	2E-7	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
682	chr18	12778714	12778715	rs2847278	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	18p11.21	NR	rs2847278-?	NR	8E-28	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
682	chr18	12779946	12779947	rs2542151	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	18p11.21	PTPN2	rs2542151-G	NR	4E-13	(T1D)	1.3	[NR]	Affymetrix, Illumina [NR]	N
682	chr18	12779946	12779947	rs2542151	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	18p11.21	PTPN2	rs2542151-C	NR	9E-8				Affymetrix [up to 335565]	N
682	chr18	12779946	12779947	rs2542151	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	18p11.21	PTPN2	rs2542151-G	0.15	5E-17		1.35	[NR]	Affymetrix, Illumina [635547] (imputed)	N
682	chr18	12779946	12779947	rs2542151	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	18p11.21	PTPN2	rs2542151-G	0.16	2E-7		1.3	[1.14-1.48]	Affymetrix [469557]	N
682	chr18	12779946	12779947	rs2542151	17554261	Parkes M	2007-06-06	Nat Genet	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.	Crohn's disease	1,748 cases, 2,938 controls	1,182 European ancestry cases, 2,024 European ancestry controls	18p11.21	PTPN2	rs2542151-?	0.18	3E-8		1.15	[1.00-1.32]	Affymetrix [see WTCCC]	N
682	chr18	12779946	12779947	rs2542151	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	18p11.21	PTPN2	rs2542151-C	0.16	1E-14		1.3	[1.22-1.40]	Affymetrix [NR]	N
682	chr18	12780463	12780464	rs9952991	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	18p11.21	RP11-973H7.1	rs9952991-?	NR	1E-7	(Shared)			Affymetrix, Illumina [~ 5200000]	N
682	chr18	12797693	12797694	rs2847297	22446963	Okada Y	2012-03-25	Nat Genet	Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.	Rheumatoid arthritis	4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls	5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls	18p11.21	PTPN2	rs2847297-G	0.33	2E-8		1.1	[1.07-1.14]	Affymetrix, Illumina [1948139]	N
682	chr18	12809339	12809340	rs1893217	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	18p11.21	NR	rs1893217-G	0.1602	3E-13	(EA)	1.1283141	[1.1-1.16]	Affymetrix, Illumina [~ 9000000] (imputed)	N
682	chr18	12809339	12809340	rs1893217	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	18p11.21	NR	rs1893217-G	0.1602	1E-27	(EA)	1.1539862	[1.13-1.18]	Affymetrix, Illumina [~ 9000000] (imputed)	N
682	chr18	12809339	12809340	rs1893217	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	18p11.21	NR	rs1893217-G	0.1602	6E-25	(EA)	1.1773959	[1.15-1.21]	Affymetrix, Illumina [~ 9000000] (imputed)	N
682	chr18	12809339	12809340	rs1893217	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	18p11.21	intergenic	rs1893217-G	0.157	3E-26		1.171	[1.127-1.216]	Affymetrix, Illumina [1230000] (imputed)	N
682	chr18	12809339	12809340	rs1893217	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	18p11.21	PTPN2	rs1893217-G	NR	5E-12				Illumina [472854]	N
682	chr18	12809339	12809340	rs1893217	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	18p11.21	PTPN2	rs1893217-G	0.153	1E-14		1.25	[1.18-1.32]	Affymetrix, Illumina [953241] (imputed)	N
682	chr18	12809339	12809340	rs1893217	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	18p11.21	PTPN2	rs1893217-G	0.17	3E-10		1.17	[1.12-1.23]	Illumina [292387]	N
682	chr18	12809339	12809340	rs1893217	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	18p11.21	PTPN2	rs1893217-?	NR	4E-15				Affymetrix, Illumina [841622] (imputed)	N
682	chr18	12821592	12821593	rs2847281	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer (squamous cell)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	18p11.21	PTPN2	rs2847281-C	0.16	2E-11		1.2	[1.14-1.26]	NR [NR]	N
682	chr18	12821592	12821593	rs2847281	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	18p11.21	PTPN2	rs2847281-A	NR	2E-8		0.031	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
683	chr18	12881360	12881361	rs8083786	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	18p11.21	PTPN2	rs8083786-G	0.34	2E-11	(East Asian)	1.18	[1.13-1.24]	Affymetrix, Illumina [up to 9739303] (imputed)	N
683	chr18	12881360	12881361	rs8083786	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	18p11.21	PTPN2	rs8083786-G	0.21	6E-18		1.14	[1.11-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
683	chr18	12881360	12881361	rs8083786	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	18p11.21	PTPN2	rs8083786-G	0.16	8E-9	(EA)	1.12	[1.08-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
683	chr18	12904398	12904399	rs12961799	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18p11.21	PTPN2	rs12961799-C	0.268	8E-6	(EA)	0.016	[0.0091-0.0237] kg/m2 increase	Affymetrix, Illumina [2550021]	N
683	chr18	12904398	12904399	rs12961799	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18p11.21	PTPN2	rs12961799-C	0.264	4E-6		0.017	[0.0095-0.0237] kg/m2 increase	Affymetrix, Illumina [2550021]	N
683	chr18	12909503	12909504	rs144653651	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	18p11.21	PTPN2, SEH1L	rs144653651-A	0.075	2E-7		0.265	[0.17-0.36] unit increase	Illumina [6391392] (imputed)	N
686	chr18	13298942	13298943	rs62097350	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	18p11.21	NR	rs62097350-?	NR	2E-6	(Japanese)	0.3644	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
686	chr18	13366861	13366862	rs12456874	23180869	Wu C	2012-11-24	Gut	Genome-wide association study of survival in patients with pancreatic adenocarcinoma.	Pancreatic cancer	642 European ancestry cases	363 Chinese ancestry cases	18p11.21	c18orf1	rs12456874-G	0.25	6E-7		1.38	[1.22-1.57]	Illumina [2731086] (imputed)	N
689	chr18	13708573	13708574	rs4796995	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	18p11.21	C18orf19	rs4796995-A	0.63	5E-8	(FNBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
691	chr18	14010930	14010931	rs71363185	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18p11.21	NR	rs71363185-?	NR	5E-6	(EA)	0.3871	[0.22-0.55] unit decrease	Illumina [up to 11892802] (imputed)	N
731	chr18	19261412	19261413	rs11662721	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	18q11.2	ABHD3	rs11662721-?	NR	1E-8	(proportions)	0.0	[0.70-0.80] % increase	Illumina [NR] (imputed)	N
734	chr18	19654136	19654137	rs4800353	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	18q11.2	NR	rs4800353-T	0.864	3E-7		1.22	[1.14-1.32]	Illumina [922031]	N
736	chr18	19907769	19907770	rs79588679	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	18q11.2	GATA6	rs79588679-T	0.17	4E-8		0.049	[0.031-0.067] s.d. decrease	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
737	chr18	20015974	20015975	rs10502431	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	18q11.2	CTAGE1	rs10502431-C	0.21	2E-6	(men)	0.087	[0.052-0.122] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
738	chr18	20084673	20084674	rs473518	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	18q11.2	intergenic	rs473518-?	0.88	9E-6		1.2	[1.11-1.32]	Affymetrix, Illumina [~ 2300000] (imputed)	N
739	chr18	20190794	20190795	rs4331426	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls, (see Thye 2010)	NA	18q11.2	NR	rs4331426-?	NR	2E-8	(binary model)			Affymetrix [1009364] (imputed)	N
739	chr18	20190794	20190795	rs4331426	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	18q11.2	RBBP8, CABLES1, GATA6, CTAGE1	rs4331426-G	0.48	7E-9		1.19	[1.10-1.30]	Affymetrix [> 333754] (imputed)	N
739	chr18	20223694	20223695	rs11661542	20364137	Yasuno K	2010-04-04	Nat Genet	Genome-wide association study of intracranial aneurysm identifies three new risk loci.	Intracranial aneurysm	2,780 European ancestry cases, 12,515 European ancestry controls	3,111 Japanese ancestry cases, 1,666 Japanese ancestry controls	18q11.2	RBBP8	rs11661542-C	0.49	1E-12		1.22	[1.15-1.28]	Illumina [831534] (imputed)	N
742	chr18	20672554	20672555	rs8098316	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	18q11.2	RBBP8	rs8098316-T	0.18	7E-23		0.052	[0.038-0.066] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
743	chr18	20720972	20720973	rs11082304	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Platelet count	13,582 European ancestry individuals	NA	18q11.2	CABLES1	rs11082304-T	NR	5E-6		3.49	[NR] unit decrease	Illumina [476395]	N
743	chr18	20720972	20720973	rs11082304	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	18q11.2	CABLES1	rs11082304-T	0.5	5E-15		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
743	chr18	20720972	20720973	rs11082304	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	18q11.2	CABLES1	rs11082304-G	NR	5E-11		2.48	[1.74-3.22] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
743	chr18	20720972	20720973	rs11082304	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	18q11.2	CABLES1	rs11082304-?	0.49	6E-6	(SMKAGE)	0.03	[NR] years decrease	Illumina [~ 518000]	N
743	chr18	20724327	20724328	rs4800148	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	18q11.2	RBBP8, CABLES1, C18orf45	rs4800148-A	0.79	4E-9		6.4	[4.24-8.56] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
743	chr18	20727610	20727611	rs4800452	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	18q11.2	CABLES1	rs4800452-T	0.79	4E-30		0.051	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
743	chr18	20735407	20735408	rs4369779	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	18q11.2	CABLES1	rs4369779-C	0.79	7E-7		0.06	[0.036-0.084] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
743	chr18	20735407	20735408	rs4369779	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	18q11.2	CABLES1	rs4369779-T	0.17	5E-24		0.53	[0.52-0.54] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
743	chr18	20735407	20735408	rs4369779	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	18q11.2	CABLES1	rs4369779-T	0.207	2E-53		0.056	[0.048-0.064] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
743	chr18	20735407	20735408	rs4369779	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	18q11.2	CABLES1	rs4369779-T	0.20	3E-6		0.06	[0.04-0.08] cm decrease	Illumina [420885]	N
743	chr18	20735460	20735461	rs4308051	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	18q11.2	NR	rs4308051-G	0.795	5E-6	(EA)	0.055	[0.031-0.079] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
743	chr18	20776650	20776651	rs11082321	25038754	Cai Q	2014-07-20	Nat Genet	Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.	Breast cancer	2,867 Chinese ancestry cases, 2,285 Chinese ancestry controls, 2,246 Korean ancestry cases, 2,052 Korean ancestry controls	5,029 Chinese ancestry cases, 5,302 Chinese ancestry controls, 6,066 Korean ancestry cases, 8,003 Korean ancestry controls, 6,572 Japanese ancestry cases, 6,539 Japanese ancestry controls, 16,003 European ancestry cases, 41,335 European ancestry controls	18q11.2	NR	rs11082321-A	0.21	7E-7	(East Asian)	1.08	[NR]	Affymetrix [up to 1930412] (imputed)	N
744	chr18	20879216	20879217	rs9949617	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	Hypertriglyceridemia	1,122 Mexican ancestry cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry cases, 1,054 Mexican ancestry controls	18q11.2	CABLES1, C18orf45	rs9949617-?	0.53	2E-8		1.28	[1.18-1.38]	Illumina [1361436] (imputed)	N
746	chr18	21104887	21104888	rs1808579	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q11.2	C18orf8	rs1808579-C	0.534	4E-8	(EA)	0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
746	chr18	21104887	21104888	rs1808579	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q11.2	C18orf8	rs1808579-C	0.534	4E-8		0.016	[0.01-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
746	chr18	21104887	21104888	rs1808579	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q11.2	C18orf8	rs1808579-C	0.534	1E-8	(EA, women)	0.022	[0.015-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
746	chr18	21140431	21140432	rs1805081	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	18q11.2	NPC1	rs1805081-A	0.6	8E-8	(adults)	1.41	[1.19-1.61]	Illumina [308846]	N
746	chr18	21140431	21140432	rs1805081	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	18q11.2	NPC1	rs1805081-A	0.56	3E-7				Illumina [308846]	N
747	chr18	21244036	21244037	rs1788776	24256812	Fogh I	2013-11-20	Hum Mol Genet	A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis (sporadic)	6,100 European ancestry cases, 7,125 European ancestry controls	2,074 European ancestry cases, 2,556 European ancestry controls	18q11.2	ANKRD29	rs1788776-A	NR	8E-6		1.11	[1.06-1.16]	Illumina [~ 7000000] (imputed)	N
748	chr18	21365852	21365853	rs11082762	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	18q11.2	LAMA3	rs11082762-A	0.36	7E-7	(Joint)	1.16	[1.09-1.24]	Illumina [254145]	N
748	chr18	21430743	21430744	rs7237244	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	18q11.2	LAMA3	rs7237244-?	NR	4E-7		1.72	[1.39-2.13]	Affymetrix, Illumina [NR] (imputed)	N
750	chr18	21744431	21744432	rs12604324	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	18q11.2	OSBPL1A	rs12604324-A	0.0201	1E-6	(Primary)	1.8953	[1.13-2.66] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
750	chr18	21749614	21749615	rs9635963	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	18q11.2	OSBPL1A	rs9635963-?	0.18	2E-7	(SHBG)			Illumina [496032]	N
751	chr18	21839151	21839152	rs275856	25483131	Ghassibe-Sabbagh M	2014-12-08	Sci Rep	T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.	Type 2 diabetes	1,384 Lebanese ancestry cases, 1,902 Lebanese ancestry controls	NA	18q11.2	OSBPL1A	rs275856-T	0.11	1E-6		1.51	[1.28-1.77]	Illumina [5891794] (imputed)	N
752	chr18	21938657	21938658	rs7227401	20548944	Hsu YH	2010-06-10	PLoS Genet	An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.	Osteoporosis-related phenotypes	2,038 European ancestry female individuals, 1,531 European ancestry male individuals	5,595 European ancestry female individuals, 2,126 European ancestry male individuals	18q11.2	OSBPL1A	rs7227401-T	0.39	4E-7	(NW, men)	0.17	[NR] cm increase	Affymetrix [433510]	N
753	chr18	22106775	22106776	rs7235440	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q11.2	LOC390843	rs7235440-G	0.46	6E-6	(IL6 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
753	chr18	22136568	22136569	rs12954803	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	18q11.2	HRH4	rs12954803-?	NR	8E-6				Affymetrix, Illumina [~ 1300000]	N
757	chr18	22674659	22674660	rs72881251	25524241	Richter HE	2014-12-15	J Urol	Genetic Contributions to Urgency Urinary Incontinence in Women.	Urgency urinary incontinence	1,102 European ancestry cases, 405 European ancestry controls	1,133 European ancestry cases, 371 European ancestry controls	18q11.2	ZNF521	rs72881251-?	NR	2E-7		1.5	[1.29-1.75]	Illumina [9077347] (imputed)	N
758	chr18	22731359	22731360	rs8083432	22379998	McCormack M	2012-03-01	Pharmacogenomics	Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.	Adverse response to lamotrigine and phenytoin	34 European ancestry lamotrigine-induced hypersensitivity cases, 42 European ancestry phenytoin-induced hypersensitivity cases, 1,296 European ancestry controls	NA	18q11.2	ZNF521	rs8083432-?	NR	6E-6	(PHT)			Illumina [NR]	N
759	chr18	22812507	22812508	rs4133168	25240745	Lopez S	2014-09-18	Mitochondrion	A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.	Mitochondrial DNA levels	173 European ancestry males and 213 European ancestry females from 21 families	NA	18q11.2	ZNF521	rs4133168-?	NR	3E-6			[NR]	Illumina [283437]	N
760	chr18	22958782	22958783	rs185818984	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	18q11.2	NR	rs185818984-?		9E-7	(PCB194)	1.03	[0.62-1.44] unit decrease	Illumina [8736858] (imputed)	N
760	chr18	22971856	22971857	rs6508367	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	18q11.2	ZNF521, SS18	rs6508367-T	0.96	8E-6		0.04	[0.022-0.058] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
761	chr18	23106222	23106223	rs34777351	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q11.2	NR	rs34777351-C	NR	4E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
762	chr18	23257185	23257186	rs1840440	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Weight	Up to 3,925 European individuals	NA	18q11.2	NR	rs1840440-G	0.61	3E-7	(females)	2.16	[NR] kg increase	Illumina [318237]	N
763	chr18	23393103	23393104	rs7231041	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q11.2	SS18	rs7231041-G	0.174	5E-6	(Moderate activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
763	chr18	23393103	23393104	rs7231041	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q11.2	SS18	rs7231041-G	0.174	3E-6	(Moderate&vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
763	chr18	23393103	23393104	rs7231041	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q11.2	SS18	rs7231041-G	0.174	2E-6	(Moderate activity )	0.04	[NR] min/d increase	Illumina [899892]	N
763	chr18	23405187	23405188	rs9966832	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	18q11.2	SS18	rs9966832-A	0.98	5E-6	(Age 20-81 years)	0.1502	[0.086-0.215] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
765	chr18	23614702	23614703	rs12960119	23585552	Kirin M	2013-04-11	Hum Mol Genet	Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.	Rhegmatogenous retinal detachment	867 European ancestry cases, 1,953 European ancestry controls	1,966 European ancestry cases, 5,918 European ancestry controls	18q11.2	TAF4B, SS18, PSMA8	rs12960119-G	0.075	2E-6		1.26	[1.14-1.39]	Illumina [299737]	N
766	chr18	23764234	23764235	rs11877878	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	18q11.2	PSMA8	rs11877878-A	0.93	5E-6	(Age 20-81 years)	0.0906	[0.052-0.129] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
766	chr18	23785647	23785648	rs8097810	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	18q11.2	PSMA8	rs8097810-A	0.94	4E-6	(Age 20-60 years)	0.105	[0.060-0.150] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
767	chr18	23892671	23892672	rs1791780	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	18q11.2	TAF4B	rs1791780-G	0.54	4E-7	(men)			Affymetrix, Illumina [2500000] (imputed)	N
769	chr18	24156424	24156425	rs16942421	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	18q11.2	KCTD1	rs16942421-?	0.08	8E-10	(Recessive)	1.68	[1.43-1.98]	Affymetrix [319222]	N
770	chr18	24337423	24337424	rs527616	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	18q11.2	intergenic	rs527616-G	0.62	2E-10		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
772	chr18	24570666	24570667	rs1436904	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	18q11.2	CHST9	rs1436904-T	0.6	3E-8		1.04	[1.02-1.06]	Affymetrix, Illumina [~ 2600000] (imputed)	N
773	chr18	24687323	24687324	rs9961915	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	18q11.2	CHST9	rs9961915-?	NR	5E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
773	chr18	24687370	24687371	rs9953270	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	18q11.2	CHST9	rs9953270-G	0.31	3E-6		1.3333	[0.66-0.85]	Illumina [1795103]	N
774	chr18	24866048	24866049	rs78788148	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q11.2	intergenic	rs78788148-A	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
776	chr18	25070354	25070355	rs4800279	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	18q11.2	AK127888	rs4800279-?	0.06	5E-6				Illumina [565404]	N
777	chr18	25167944	25167945	rs1420956	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q12.1	RBM22P1	rs1420956-A	0.332	5E-6	(Height z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
780	chr18	25569057	25569058	rs2298574	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	18q12.1	CDH2	rs2298574-G	0.08	6E-6	(vWF levels)	0.27	[0.15-0.39] IU/dL decrease	Illumina [442728]	N
781	chr18	25700790	25700791	rs11564386	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q12.1	CDH2	rs11564386-G	0.017	8E-6	(Total T3 )	0.03	[NR] ng/dL increase	Illumina [899892]	N
781	chr18	25773015	25773016	rs4800843	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	18q12.1	intergenic	rs4800843-?	NR	3E-6	(SF7)			Affymetrix [5476100] (imputed)	N
781	chr18	25786879	25786880	rs11659841	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	18q12.1	CDH2	rs11659841-?	0.13	9E-6	(PD1)	2.48	[NR]	Illumina [~ 1400000] (imputed)	N
782	chr18	25926058	25926059	rs11083271	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (lobular)	236 European ancestry cases	NA	18q12.1	intergenic	rs11083271-A	0.34	8E-6		0.61	[NR] unit increase	Illumina [324623]	N
783	chr18	26059111	26059112	rs4131805	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Hip geometry	Up to 1,094 individuals from 241 families	NA	18q12.1	intergenic	rs4131805-?	NR	2E-6	(NSAm)			Affymetrix [70897]	N
784	chr18	26124687	26124688	rs879500	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	18q12.1	CDH2	rs879500-?		5E-6	(EA)			Illumina [up to 524000]	N
787	chr18	26606646	26606647	rs2155929	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	18q12.1	CDH2	rs2155929-?	NR	5E-6	(Dysthymic)	1.01	[NR] unit increase	Affymetrix [703012]	N
788	chr18	26676671	26676672	rs4145170	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	18q12.1	AC105245.4	rs4145170-?	NR	3E-6	(Animals)			Illumina [up to 563855]	N
792	chr18	27184880	27184881	rs7505784	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	18q12.1	intergenic	rs7505784-C	0.9481	2E-6		0.09291562	[0.054-0.131] unit decrease	Illumina [1632371] (imputed)	N
798	chr18	27956442	27956443	rs6508673	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q12.1	DSC3	rs6508673-A	0.013	3E-6	(Urinary nitrogen )	0.04	[NR] g/d increase	Illumina [899892]	N
798	chr18	27985478	27985479	rs4799964	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	18q12.1	MIR302F	rs4799964-G	0.02	1E-6	(EA, 25 years or older)	1.267	[1.152-1.394]	Affymetrix, Illumina [NR] (imputed)	N
799	chr18	28141687	28141688	rs2729409	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	18q12.1	DSC3	rs2729409-?	0.26	3E-6	(Parathyroid hormone)			Illumina [496032]	N
803	chr18	28639547	28639548	rs1126214	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	18q12.1	DSC2, DSC3	rs1126214-G	0.41	7E-6	(Dominant model)	1.25	[NR]	Illumina [1795103]	N
804	chr18	28789724	28789725	rs2920001	23412934	Gourraud PA	2013-02-13	Brain	A genome-wide association study of brain lesion distribution in multiple sclerosis.	Multiple sclerosis	284 European ancestry individuals		18q12.1	DSC1	rs2920001-?		1E-6	(Cluxel minimum distance)			Illumina [208975]	N
805	chr18	28902321	28902322	rs7236477	20208534	Rothenberg ME	2010-03-07	Nat Genet	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Eosinophilic esophagitis (pediatric)	181 European ancestry cases, 1,974 European ancestry controls	170 European ancestry cases, 1,130 European ancestry controls	18q12.1	DSG1	rs7236477-G	0.03	7E-6		2.22	[1.39-3.55]	Illumina [~ 550000]	N
806	chr18	29038122	29038123	rs1941184	19772629	Latourelle JC	2009-09-22	BMC Med Genet	Genomewide association study for onset age in Parkinson disease.	Parkinson's disease (age of onset)	857 European ancestry familial cases, 440 idiopathic cases	747 European ancestry idiopathic cases	18q12.1	DSG3	rs1941184-C	NR	4E-6		2.28	[NR] years decrease	Illumina, Perlegen [1861750] (imputed)	N
806	chr18	29041733	29041734	rs3794924	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	18q12.1	DSG3	rs3794924-?		4E-6	(overall survival)	2.37	[1.65-3.43]	Illumina [729737]	N
807	chr18	29187278	29187279	rs1667255	21878437	Mondul AM	2011-08-30	Hum Mol Genet	Genome-wide association study of circulating retinol levels.	Retinol levels	5,006 European ancestry individuals	1,124 European ancestry individuals, 3,764 individuals	18q12.1	TTR	rs1667255-C	0.31	6E-14		0.03	[0.02-0.04] ug/L increase	Illumina [562105]	N
808	chr18	29273128	29273129	rs10438933	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	18q12.1	B4GALT6	rs10438933-G	0.12	1E-6	(susceptibilty)	1.3	[NR]	Illumina [288357]	N
808	chr18	29336590	29336591	rs10502575	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	18q12.1	MCART2	rs10502575-A	0.83	1E-7	(AA)	0.22	[0.14-0.3] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
813	chr18	29979574	29979575	rs58263042	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	18q12.1	NOL4	rs58263042-C	0.061	9E-6		0.165	[0.092-0.238] cup size decrease	Illumina [7422970] (imputed)	N
814	chr18	30032524	30032525	rs17744182	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	PR interval	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	18q12.1	GAREM	rs17744182-A	0.39	6E-8		1.43	[NR] unit increase	Affymetrix [2100000] (imputed)	N
820	chr18	30927774	30927775	rs6507016	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	18q12.1	C18orf34	rs6507016-?	NR	4E-6	(rs5945619)	1.2821	[1.15-1.41]	Affymetrix, Illumina [1117531] (imputed)	N
821	chr18	30998130	30998131	rs6507022	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	18q12.1	C18orf34	rs6507022-C		9E-6		0.04	[0.02-0.06] unit decrease	Affymetrix [~ 2500000] (imputed)	N
822	chr18	31088077	31088078	rs76650652	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q12.1	intergenic	rs76650652-A	0.011	2E-6		5.86	[2.59-13.3]	Illumina [1556551]	N
823	chr18	31246243	31246244	rs55916387	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18q12.1	NR	rs55916387-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
823	chr18	31266740	31266741	rs4799710	23932459	Yao TC	2013-08-06	J Allergy Clin Immunol	Genome-wide association study of lung function phenotypes in a founder population.	Pulmonary function	1,144 Hutterite individuals	NA	18q12.1	ASXL3	rs4799710-?	NR	7E-6	(FVC)			Affymetrix [246010]	N
823	chr18	31321993	31321994	rs16964886	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q12.1	ASXL3, C18orf34, NOL4	rs16964886-A	0.007	5E-6		6.77	[2.62-17.46]	Illumina [1556551]	N
824	chr18	31390867	31390868	rs60241046	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q12.1	ASXL3, NOL4	rs60241046-A	0.018	7E-6		4.48	[2.19-9.17]	Illumina [1556551]	N
824	chr18	31420009	31420010	rs1013696	20360315	Uher R	2010-04-01	Am J Psychiatry	Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.	Response to antidepressants	706 European ancestry individuals	NA	18q12.1	intergenic	rs1013696-?	0.22	4E-6	(genotype x drug)	17.8	[NR] unit decrease	Illumina [539391]	N
824	chr18	31441919	31441920	rs142429341	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18q12.1	NR	rs142429341-?	NR	4E-6	(EA)	0.3124	[0.18-0.44] unit decrease	Illumina [up to 11892802] (imputed)	N
826	chr18	31595532	31595533	rs1941342	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q12.1	NR	rs1941342-A	NR	1E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
826	chr18	31645378	31645379	rs7239368	19846067	Garriock HA	2009-10-19	Biol Psychiatry	A genomewide association study of citalopram response in major depressive disorder.	Response to citalopram treatment	Up to 659 European ancestry responders, up to 121 African American responders, up to 103 Hispanic responders, 408 European ancestry non-responders, 120 African American non-responders, 80 Hispanic non-responders	NA	18q12.1	NOL4	rs7239368-?	0.42	9E-6	(remission)	1.45	[1.22-1.69]	Affymetrix [430198]	N
828	chr18	31929246	31929247	rs72963233	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q12.1	NR	rs72963233-C	NR	4E-6		1.1235955	[NR]	Illumina [7158791] (imputed)	N
829	chr18	32015227	32015228	rs2049186	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in overweight individuals	up to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals	NA	18q12.1	NOL4, DTNA	rs2049186-T	0.45	8E-6	(women)	0.075	[0.042-0.108] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
836	chr18	32956930	32956931	rs116303449	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18q12.2	ZNF396	rs116303449-?	NR	6E-7				Affymetrix [5486770] (imputed)	N
836	chr18	32986599	32986600	rs1362858	26227905	Hu Y	2015-07-31	Mol Neurobiol	A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.	Parkinson's disease	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	18q12.2	ZNF396, INO80C	rs1362858-?	NR	1E-6		2.68	[1.92-3.73]	Illumina [862198]	N
837	chr18	33097959	33097960	rs9953852	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	18q12.2	intergenic	rs9953852-?	NR	3E-6				NR [~ 2000000]	N
841	chr18	33557465	33557466	rs2276314	24223155	Behr ER	2013-11-06	PLoS One	Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.	Drug-induced torsades de pointes	216 European ancestry cases, 386 European ancestry drug-exposed controls, 385 European ancestry population controls	NA	18q12.2	C18orf21, RPRD1A, MIR187, GALNT1	rs2276314-?	0.19	4E-7	(all controls combined)	2.0	[1.5-2.6]	Illumina [3542142] (imputed)	N
842	chr18	33694119	33694120	rs1050631	23644492	Wu C	2013-05-05	Nat Genet	Genome-wide association study identifies common variants in SLC39A6 associated with length of survival in esophageal squamous-cell carcinoma.	Esophageal squamous cell cancer (length of survival)	1,331 Chinese ancestry cases	1,062 Chinese ancestry individuals	18q12.2	SLC39A6	rs1050631-T	0.18	4E-8		1.3	[1.19-1.43]	Affymetrix [665999]	N
845	chr18	34107451	34107452	rs17651157	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	18q12.2	FHOD3	rs17651157-?	0.068	1E-7	(perphenazine-triglycerides)			Affymetrix [492900]	N
846	chr18	34252748	34252749	rs8094794	24347629	Shaffer JR	2013-12-17	G3 (Bethesda)	Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.	Periodontal disease-related phenotypes	93 European ancestry cases, 83 European ancestry individuals, 497 European ancestry controls	NA	18q12.2	FHOD3, KIAA1328, TPGS2	rs8094794-?	0.79	6E-6	(PD1)	2.17	[NR]	Illumina [~ 1400000] (imputed)	N
847	chr18	34371860	34371861	rs7226408	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q12.2	FHOD3, TPGS2	rs7226408-A	0.181	5E-6	(Adiponectin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
851	chr18	34928638	34928639	rs4799915	18521091	Volpi S	2008-06-03	Mol Psychiatry	Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.	Response to iloperidone treatment (QT prolongation)	91 African American Schizophrenia cases, 69 European ancestry Schizophrenia cases, 16 Asian ancestry Schizophrenia cases, 7 Schizophrenia cases	NA	18q12.2	BRUNOL4	rs4799915-T	NR	3E-6				Affymetrix [339272]	N
852	chr18	35036829	35036830	rs79828856	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18q12.2	NR	rs79828856-?	NR	8E-8	(Japanese)	0.6584	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
852	chr18	35078681	35078682	rs17750321	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	18q12.2	BRUNOL4	rs17750321-A	0.03	5E-6	(Age 8)	0.3	[0.18-0.42] unit increase	Illumina [2293137] (imputed)	N
852	chr18	35085732	35085733	rs41475954	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18q12.2	NR	rs41475954-?	NR	4E-9	(Japanese)	0.6178	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
852	chr18	35085732	35085733	rs41475954	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	18q12.2	NR	rs41475954-?	NR	1E-6	(Japanese)	0.4614	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
853	chr18	35146205	35146206	rs150664883	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18q12.2	NR	rs150664883-?	NR	5E-9	(Japanese)	0.4318	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
853	chr18	35198295	35198296	rs10502675	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	18q12.2	intergenic	rs10502675-?	NR	3E-6	(SF9)			Affymetrix [5476100] (imputed)	N
853	chr18	35214005	35214006	rs2162440	19359265	Mangino M	2009-04-08	J Med Genet	A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length.	Telomere length	1,625 European ancestry females	1,165 European ancestry individuals	18q12.2	BRUNOL4, PIKC3C	rs2162440-G	NR	3E-6		106.0	[62.88-149.12] base pairs decrease	Illumina [~ 314075]	N
854	chr18	35307819	35307820	rs12458491	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18q12.2	NR	rs12458491-?	NR	2E-9	(Japanese)	0.8417	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
854	chr18	35351725	35351726	rs1187220	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	18q12.2	CELF4	rs1187220-T	0.323	3E-7		0.024	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
861	chr18	36198731	36198732	rs11082098	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	18q12.2	intergenic	rs11082098-A	0.0558	2E-6		1.138	[NR] unit increase	Illumina [1216189] (imputed)	N
861	chr18	36198731	36198732	rs11082098	24556642	Zeng Z	2014-02-18	Caries Res	Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.	Pit-and-Fissure caries	979 European ancestry individuals	NA	18q12.2	intergenic	rs11082098-A	0.0558	3E-7		1.032	[NR] unit increase	Illumina [1216074] (imputed)	N
863	chr18	36532975	36532976	rs4327120	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q12.2	LOC647946	rs4327120-T	0.895	9E-7	(EA, men)	0.04	[0.024-0.056] kg/m2 increase	Affymetrix, Illumina [2550021]	N
864	chr18	36680498	36680499	rs12165098	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	18q12.2	BRUNOL4	rs12165098-?	NR	5E-6	(EA)	3.18	[1.81-4.55] unit decrease	Affymetrix, Illumina [2033301]	N
865	chr18	36738195	36738196	rs4570936	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	18q12.2	intergenic	rs4570936-T	0.22	6E-6	(EA)	0.05	[0.03-0.07] unit decrease	Illumina [up to 905285]	N
868	chr18	37165304	37165305	rs7226835	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q12.3	RPL7AP66	rs7226835-A	0.041	8E-6	(Snack intake )	0.04	[NR] kcal increase	Illumina [899892]	N
872	chr18	37619938	37619939	rs307120	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	18q12.3	intergenic	rs307120-?	NR	5E-6		0.0277	[0.016-0.040] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
876	chr18	38220098	38220099	rs10502739	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	18q12.3	KC6	rs10502739-C		8E-6		0.04	[0.02-0.06] unit decrease	Affymetrix [~ 2500000] (imputed)	N
877	chr18	38383482	38383483	rs4368243	26025128	Park HW	2015-05-27	J Allergy Clin Immunol	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.	Bone mineral accretion in asthma (oral corticosteroid dose interaction)	489 European ancestry children	NA	18q12.3	intergenic	rs4368243-?		6E-8				Illumina [NR]	N
880	chr18	38765658	38765659	rs17697518	22484627	Bradfield JP	2012-04-08	Nat Genet	A genome-wide association meta-analysis identifies new childhood obesity loci.	Obesity	5,530 European ancestry cases, 8,318 European ancestry controls	2,214 European ancestry cases, 2,674 European ancestry controls	18q12.3	KC6	rs17697518-?	NR	7E-7		1.167	[1.098-1.241]	Affymetrix, Illumina [2700000] (imputed)	N
883	chr18	39187169	39187170	rs16975050	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	18q12.3	KC6	rs16975050-?		5E-7				Illumina [859311]	N
884	chr18	39228309	39228310	rs9958032	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Zn levels)	2,603 European ancestry individuals	NA	18q12.3	PIK3C3	rs9958032-?	NR	3E-6		1.467	[0.85-2.08] unit increase	Illumina [> 2500000] (imputed)	N
889	chr18	39937508	39937509	rs9304270	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q12.3	PIK3C3	rs9304270-A	0.122	2E-6	(C-peptide )	0.03	[NR] ng/mL increase	Illumina [899892]	N
889	chr18	39940965	39940966	rs346452	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	18q12.3	PIK3C3	rs346452-?	0.54	2E-6	(Age 20-81 years)	1.32	[1.18-1.47]	Affymetrix, Illumina [up to 17585496] (imputed)	N
890	chr18	40023305	40023306	rs346221	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	18q12.3	RIT2	rs346221-A	0.64	4E-6	(Age 20-81 years)	1.31	[1.17-1.47]	Affymetrix, Illumina [up to 17585496] (imputed)	N
890	chr18	40023781	40023782	rs12606301	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	18q12.3	intergenic	rs12606301-G	NR	5E-6		0.171	[0.098-0.244] unit increase	Illumina [628922]	N
890	chr18	40058881	40058882	rs7235528	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	18q12.3	intergenic	rs7235528-T	NR	4E-6		0.167	[0.096-0.238] unit increase	Illumina [628922]	N
890	chr18	40059620	40059621	rs16976171	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	18q12.3	RIT2	rs16976171-T	0.11	4E-6	(AA)	0.2	[0.12-0.28] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
890	chr18	40075955	40075956	rs8090196	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	18q12.3	intergenic	rs8090196-T	NR	3E-6		0.179	[0.1-0.25] unit decrease	Illumina [628922]	N
890	chr18	40102640	40102641	rs1346987	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	18q12.3	intergenic	rs1346987-C	NR	2E-6		0.18	[0.11-0.25] unit increase	Illumina [628922]	N
890	chr18	40105656	40105657	rs7231412	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	18q12.3	intergenic	rs7231412-T	NR	6E-6		0.17	[0.097-0.243] unit increase	Illumina [628922]	N
891	chr18	40147670	40147671	rs7239883	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q12.3	LOC284260	rs7239883-G	0.394	3E-7		0.015	[0.0093-0.0211] kg/m2 increase	Affymetrix, Illumina [2550021]	N
891	chr18	40147670	40147671	rs7239883	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q12.3	LOC284260	rs7239883-G	0.393	2E-7	(EA)	0.016	[0.01-0.022] kg/m2 increase	Affymetrix, Illumina [2550021]	N
891	chr18	40147670	40147671	rs7239883	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q12.3	LOC284260	rs7239883-G	0.391	2E-8	(EA, women)	0.023	[0.015-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
892	chr18	40288292	40288293	rs8085804	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	18q12.3	RIT2	rs8085804-?	0.3695	8E-6	(VRM)			Illumina [475971]	N
893	chr18	40437650	40437651	rs16977065	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	18q12.3	intergenic	rs16977065-?	0.044	1E-7	(CSJC , EA, RF+)	33.72	[NR] unit increase	Illumina [534053]	N
894	chr18	40591083	40591084	rs9958208	23007406	Yang JJ	2012-09-24	Blood	Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases	18q12.3	RIT2	rs9958208-A	0.099	5E-6		1.62	[1.32-1.99]	Affymetrix [444044]	N
895	chr18	40673379	40673380	rs12456492	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	18q12.3	RIT2	rs12456492-G	0.307	8E-12		1.11	[1.08-1.14]	Illumina [7893274] (imputed)	N
895	chr18	40673379	40673380	rs12456492	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	18q12.3	RIT2	rs12456492-?	NR	2E-10		1.19	[NR]	Illumina [2500000] (imputed)	N
895	chr18	40678234	40678235	rs4130047	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	18q12.3	RIT2, SYT4	rs4130047-C	0.31	2E-7		1.16	[1.10-1.23]	Illumina [522782]	N
895	chr18	40699201	40699202	rs12607055	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Pyoderma gangrenosum in inflammatory bowel disease	92 European ancestry cases, 5,664 European ancestry controls	NA	18q12.3	RIT2, SYT4	rs12607055-C	NR	2E-6		3.5	[2.10-5.90]	Illumina [2017629] (imputed)	N
896	chr18	40808797	40808798	rs17664267	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Conduct disorder (interaction)	909 European ancestry trios	NA	18q12.3	intergenic	rs17664267-T	0.19	7E-6	(int, MW)	1.39	[NR] unit increase	Perlegen [429901]	N
896	chr18	40872272	40872273	rs12457996	21042317	Wray NR	2010-11-02	Mol Psychiatry	Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.	Major depressive disorder	2,431 European ancestry cases, 3,673 European ancestry controls	3,332 European ancestry cases, 3,228 European ancestry controls	18q12.3	intergenic	rs12457996-T	0.77	6E-6		1.15	[NR]	Affymetrix, Illumina [1251157] (imputed)	N
897	chr18	40992697	40992698	rs555267	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q12.3	SYT4	rs555267-T	0.32	8E-7		0.016	[0.0093-0.0219] kg/m2 increase	Affymetrix, Illumina [2550021]	N
897	chr18	40992697	40992698	rs555267	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q12.3	SYT4	rs555267-T	0.317	1E-6	(EA)	0.016	[0.0096-0.0226] kg/m2 increase	Affymetrix, Illumina [2550021]	N
901	chr18	41480526	41480527	rs1380836	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q12.3	KRT8P5	rs1380836-G	0.292	2E-6	(sICAM-1 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
905	chr18	42002738	42002739	rs182599614	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	18q12.3	NR	rs182599614-?	NR	7E-8	(AA)	1.4306	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
906	chr18	42090666	42090667	rs2048485	22885689	Levinson DF	2012-09-01	Am J Psychiatry	Genome-wide association study of multiplex schizophrenia pedigrees.	Schizophrenia	1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls	NA	18q12.3	intergenic	rs2048485-?	NR	8E-6	(EA)	1.4	[NR]	Illumina [up to 531195]	N
907	chr18	42329075	42329076	rs17783459	22550155	Edelstein LC	2012-05-01	Circulation	Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress.	Platelet thrombus formation	125 European ancestry individuals, 116 African American individuals	NA	18q12.3	SETBP1	rs17783459-?	NR	3E-6	(AA)	0.032067	[0.019-0.046] unit increase	Illumina [at least 620901]	N
908	chr18	42431243	42431244	rs4890489	25035420	Hong KW	2014-07-17	Hum Mol Genet	Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.	QRS duration	6,085 Korean ancestry individuals	7,295 Japanese ancestry individuals	18q12.3	SETBP1	rs4890489-A	0.32	2E-8		0.97	[0.64-1.30] unit increase	Affymetrix [2100000] (imputed)	N
910	chr18	42725661	42725662	rs998124	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	18q12.3	MIR4319	rs998124-?	NR	5E-6	(rs10934853)	1.33	[1.18-1.51]	Affymetrix, Illumina [1117531] (imputed)	N
911	chr18	42800147	42800148	rs10502861	22693459	Li R	2012-05-31	PLoS Genet	Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.	Male-pattern baldness	3,891 European ancestry cases, 8,915 European ancestry controls	NA	18q12.3	SETBP1	rs10502861-C	0.775	3E-9		1.28	[1.18-1.39]	Affymetrix, Illumina [2391230] (imputed)	N
912	chr18	42865209	42865210	rs11082438	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	18q12.3	SLC14A2	rs11082438-G	0.936	4E-7		1.33	[1.19-1.48]	Illumina [up to 21554489]	N
912	chr18	42956671	42956672	rs2243803	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	18q12.3	SLC14A2	rs2243803-A	0.40	3E-7		2.0	[1.22-2.78] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
912	chr18	42968533	42968534	rs73431975	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	18q12.3	SLC14A2	rs73431975-?		2E-6		0.573	[NR] unit decrease	Illumina [5970354] (imputed)	N
914	chr18	43153948	43153949	rs10502868	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	18q12.3	SLC14A2	rs10502868-G	0.08	7E-6	(albumin)	0.04	[0.21-0.51] g/L decrease	Illumina [316730]	N
914	chr18	43187129	43187130	rs7227483	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	18q12.3	SLC14A2	rs7227483-G	0.80	7E-18		0.0083	[0.0063-0.0103] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
914	chr18	43202403	43202404	rs7232775	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	18q12.3	SLC14A2	rs7232775-C	0.20	8E-14	(BUN)	0.0148	[0.011-0.019] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
914	chr18	43231621	43231622	rs4890568	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	18q12.3	SLC14A2	rs4890568-G	0.24	2E-10	(BUN)	0.087	[0.06-0.114] unit decrease	Illumina [561583]	N
915	chr18	43309910	43309911	rs17674580	21750109	Rafnar T	2011-07-12	Hum Mol Genet	European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.	Bladder cancer	2,234 European ancestry cases, 41,603 European ancestry controls	3,371 European ancestry cases, 10,261 European ancestry controls, 269 Iranian ancestry cases, 246 Iranian ancestry controls	18q12.3	SLC14A1	rs17674580-T	0.33	8E-11		1.17	[1.11-1.22]	Illumina [5340737] (imputed)	N
915	chr18	43316965	43316966	rs7238033	21824976	Garcia-Closas M	2011-08-08	Hum Mol Genet	A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3.	Bladder cancer	4,501 European ancestry cases, 6,076 European ancestry controls	1,382 European ancestry cases, 2,201 European ancestry controls	18q12.3	SLC14A1	rs7238033-?		9E-9		1.2	[1.13-1.28]	Illumina [555912]	N
915	chr18	43317281	43317282	rs10775480	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	18q12.3	SLC14A2	rs10775480-T	0.43	6E-8		1.13	[1.08-1.19]	Illumina [462190]	N
918	chr18	43688575	43688576	rs11874712	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	18q21.1	intergenic	rs11874712-A	0.41	2E-7		1.15	[1.09-1.20]	Affymetrix, Illumina [~ 2300000] (imputed)	N
925	chr18	44585419	44585420	rs2576037	21173776	de Moor MH	2010-12-21	Mol Psychiatry	Meta-analysis of genome-wide association studies for personality.	Personality dimensions	17,375 European ancestry individuals	3,294 European ancestry individuals	18q21.1	KATNAL2	rs2576037-T	NR	1E-7	(conscientiousness)	0.41	[0.27-0.55] unit decrease	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
925	chr18	44631772	44631773	rs16958432	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	18q21.1	NR	rs16958432-A	0.074	4E-6	(EA)	0.085	[0.05-0.12] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
925	chr18	44632883	44632884	rs16958440	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	18q21.1	NR	rs16958440-G	0.074	4E-6	(EA)	0.085	[0.05-0.12] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
926	chr18	44736335	44736336	rs2635047	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	18q21.1	intergenic	rs2635047-T	0.483	6E-6		0.02	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
926	chr18	44752124	44752125	rs2137289	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	18q21.1	SKOR2	rs2137289-A	0.59	8E-20		0.05	[0.04-0.06] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
926	chr18	44752237	44752238	rs1398217	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	18q21.1	FUSSEL18	rs1398217-G	0.43	2E-13		2.7	[1.92-3.48] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
927	chr18	44860263	44860264	rs9947662	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	18q21.1	intergenic	rs9947662-?	0.73	3E-6		1.06	[1.03-1.09]	Affymetrix, Illumina [~ 2300000] (imputed)	N
934	chr18	45815416	45815417	rs1944582	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	18q21.1	KIAA0427	rs1944582-?	NR	4E-6				Affymetrix, Illumina [~ 1300000]	N
934	chr18	45865596	45865597	rs11082671	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	18q21.1	C18orf12	rs11082671-G	0.79	2E-8		0.107	[0.07-0.144] unit increase	Affymetrix [1532051] (imputed)	N
937	chr18	46227443	46227444	rs16949825	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q21.1	NR	rs16949825-C	0.902274750778816	7E-6	(IGP55)	0.2457	[0.14-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
937	chr18	46227443	46227444	rs16949825	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q21.1	NR	rs16949825-C	0.902274750778816	3E-6	(IGP43)	0.2547	[0.15-0.36] unit increase	Illumina [~ 2500000] (imputed)	N
937	chr18	46240710	46240711	rs9947954	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q21.1	NR	rs9947954-C	0.425160203096539	8E-6	(IGP41)	0.1398	[0.078-0.201] unit decrease	Illumina [~ 2500000] (imputed)	N
938	chr18	46317087	46317088	rs12455557	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	18q21.1	NR	rs12455557-?		6E-6	(AA)			Illumina [up to 524000]	N
938	chr18	46336701	46336702	rs7227892	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	18q21.1	intergenic	rs7227892-?	0.72	2E-6		1.14	[1.08-1.19]	Affymetrix, Illumina [~ 2300000] (imputed)	N
938	chr18	46395021	46395022	rs7240004	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	18q21.1	NR	rs7240004-A	0.62	3E-10	(EA)	1.0858526		Affymetrix, Illumina [~ 9000000] (imputed)	N
938	chr18	46395021	46395022	rs7240004	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	18q21.1	NR	rs7240004-A	0.62	1E-10	(EA)	1.068784		Affymetrix, Illumina [~ 9000000] (imputed)	N
938	chr18	46395021	46395022	rs7240004	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	18q21.1	SMAD7	rs7240004-A	0.616	1E-9		1.057	[1.026-1.088]	Affymetrix, Illumina [1230000] (imputed)	N
939	chr18	46450975	46450976	rs7229639	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	18q21.1	SMAD7	rs7229639-A	0.16	2E-8	(East Asian)	1.2	[1.16-1.25]	Affymetrix, Illumina [2400000] (imputed)	N
939	chr18	46450975	46450976	rs7229639	24448986	Zhang B	2014-01-21	Int J Cancer	Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.	Colorectal cancer	1,773 East Asian ancestry cases, 2,642 East Asian ancestry controls	6,902 East Asian ancestry cases, 7,862 East Asian ancestry controls	18q21.1	SMAD7	rs7229639-A	0.145	3E-11		1.22	[1.15-1.29]	Affymetrix, Illumina [1695815] (imputed)	N
939	chr18	46453462	46453463	rs4939827	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	18q21.1	SMAD7	rs4939827-T	0.54	2E-15		1.13	[1.1-1.16]	Affymetrix, Illumina [~ 2500000] (imputed)	N
939	chr18	46453462	46453463	rs4939827	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	18q21.1	SMAD7	rs4939827-?	0.52	2E-10		1.12	[1.09-1.16]	Affymetrix, Illumina [2708280] (imputed)	N
939	chr18	46453462	46453463	rs4939827	21761138	Peters U	2011-07-15	Hum Genet	Meta-analysis of new genome-wide association studies of colorectal cancer risk.	Colorectal cancer	2,906 European ancestry cases, 3,416 European ancestry controls	8,161 European ancestry cases, 9,101 European ancestry controls	18q21.1	SMAD7	rs4939827-?	0.51	1E-7		1.14	[1.08-1.18]	Illumina [378739]	N
939	chr18	46453462	46453463	rs4939827	18372905	Tomlinson IP	2008-03-30	Nat Genet	A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.	Colorectal cancer	922 European ancestry cases, 927 European ancestry controls	17,089 European ancestry cases, 16,862 European ancestry controls, 783 cases, 664 controls	18q21.1	SMAD7	rs4939827-?	0.53	2E-6		1.18	[1.10-1.25]	Illumina [547647]	N
939	chr18	46453462	46453463	rs4939827	18372901	Tenesa A	2008-03-30	Nat Genet	Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.	Colorectal cancer	981 European ancestry cases, 1,002 European ancestry controls	10,287 European ancestry cases, 10,401 European ancestry controls, 4,400 Japanese ancestry cases, 3,179 Japanese ancestry controls, 1,789 cases, 1,771 controls	18q21.1	SMAD7	rs4939827-T	0.52	8E-28		1.2	[1.16-1.24]	Illumina [541628]	N
939	chr18	46453462	46453463	rs4939827	17934461	Broderick P	2007-10-14	Nat Genet	A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.	Colorectal cancer	930 European ancestry cases, 960 European ancestry controls	7,473 European ancestry cases, 5,984 European ancestry controls	18q21.1	SMAD7	rs4939827-T	0.52	1E-12		1.16	[1.09-1.27]	Illumina [547647]	N
939	chr18	46454047	46454048	rs7226855	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	18q21.1	SMAD7	rs7226855-A	0.55	4E-23		1.25	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
940	chr18	46559718	46559719	rs10853575	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q21.1	NR	rs10853575-T	NR	3E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
940	chr18	46579969	46579970	rs357894	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	18q21.1	SMAD7	rs357894-?	NR	4E-6	(DMFS5max)			Illumina [518997]	N
940	chr18	46582358	46582359	rs16950303	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	18q21.1	DYM	rs16950303-A	0.73	5E-16		0.042	[0.03-0.054] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
940	chr18	46587653	46587654	rs1787200	22021425	Carty CL	2011-10-21	Hum Mol Genet	Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).	Height	8,149 African American female individuals	Up to 20,809 African American and African ancestry individuals	18q21.1	DYM	rs1787200-T	0.37	7E-10		0.044	[0.024-0.064] unit increase	Affymetrix [855034]	N
940	chr18	46587653	46587654	rs1787200	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	18q21.1	DYM	rs1787200-A	0.37	1E-10		0.053	[0.037-0.069] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
941	chr18	46683753	46683754	rs72923818	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18q21.1	NR	rs72923818-?	NR	1E-6	(EA)	0.4612	[0.28-0.65] unit increase	Illumina [up to 11892802] (imputed)	N
943	chr18	46959499	46959500	rs9967417	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	18q21.1	DYM	rs9967417-G	0.42	5E-9		1.13	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
943	chr18	46959499	46959500	rs9967417	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	18q21.1	DYM	rs9967417-C	0.58	9E-25		0.038	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
943	chr18	46991159	46991160	rs8099594	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	18q21.1	DYM	rs8099594-A	0.65	3E-7		0.05	[0.02-0.08] s.d. increase (males)	Affymetrix [402951]	N
944	chr18	47106027	47106028	rs149615216	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	18q21.1	LIPG	rs149615216-T	0.01	1E-12		0.229	[0.17-0.29] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
944	chr18	47109692	47109693	rs9951026	23666239	Chung CC	2013-05-12	Nat Genet	Meta-analysis identifies four new loci associated with testicular germ cell tumor.	Testicular germ cell tumor	582 European ancestry male cases, 1,056 European ancestry male controls	3,560 European ancestry male cases, 8,510 European ancestry male controls	18q21.1	LIPG	rs9951026-?	NR	5E-6		1.22	[1.12-1.33]	Illumina [NR]	N
944	chr18	47121315	47121316	rs17798991	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q21.1	LIPG	rs17798991-A	0.387	7E-6	(Light activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
944	chr18	47158185	47158186	rs10438978	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	18q21.1	LIPG	rs10438978-C	0.81	8E-36		0.095	[0.079-0.111] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
944	chr18	47159089	47159090	rs7240405	20031538	Heid IM	2008-10-01	Circ Cardiovasc Genet	Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.	HDL cholesterol	Up to 4,274 European ancestry individuals	Up to 15,873 European ancestry individuals	18q21.1	LIPG	rs7240405-A	0.15	5E-10		2.27	[NR] mg/dl decrease	Affymetrix [up to 2557253] (imputed)	N
944	chr18	47160813	47160814	rs7228085	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	18q21.1	LIPG	rs7228085-?	NR	7E-11	(XL-HDL-TG)	0.11	[0.071-0.149] unit increase	Illumina [~ 7700000] (imputed)	N
944	chr18	47160952	47160953	rs7241918	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	18q21.1	LIPG	rs7241918-G	0.19	1E-44		0.09	[NR] unit decrease	NR [NR] (imputed)	N
944	chr18	47160952	47160953	rs7241918	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	18q21.1	LIPG	rs7241918-G	0.19	4E-18		0.058	[NR] unit decrease	NR [NR] (imputed)	N
944	chr18	47160952	47160953	rs7241918	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	18q21.1	LIPG	rs7241918-G	0.17	3E-49		1.31	[1.11-1.51] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
944	chr18	47160952	47160953	rs7241918	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	18q21.1	LIPG	rs7241918-A	0.17	2E-19		1.94	[1.43-2.45] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
944	chr18	47167213	47167214	rs4939883	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	18q21.1	LIPG	rs4939883-?	NR	7E-16	(HDL-C.by.NMR, whole)	1.513	[NR] unit decrease	Illumina [335603]	N
944	chr18	47167213	47167214	rs4939883	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	18q21.1	LIPG	rs4939883-?	NR	6E-14	(APOA1.assay, whole)	2.529	[NR] unit decrease	Illumina [335603]	N
944	chr18	47167213	47167214	rs4939883	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	18q21.1	LIPG	rs4939883-?	NR	5E-13	(HDL-C.by.NMR, fasting)	1.591	[NR] unit decrease	Illumina [335603]	N
944	chr18	47167213	47167214	rs4939883	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	18q21.1	LIPG	rs4939883-?	NR	4E-10	(HDL.large, whole)	0.312	[NR] unit decrease	Illumina [335603]	N
944	chr18	47167213	47167214	rs4939883	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	18q21.1	LIPG	rs4939883-?	NR	2E-8	(HDL-C.assay, fasting)	1.33	[NR] unit decrease	Illumina [335603]	N
944	chr18	47167213	47167214	rs4939883	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	18q21.1	LIPG	rs4939883-?	NR	2E-11	(APOA1.assay, fasting)	2.616	[NR] unit decrease	Illumina [335603]	N
944	chr18	47167213	47167214	rs4939883	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	18q21.1	LIPG	rs4939883-?	NR	1E-9	(HDL.large, fasting)	0.353	[NR] unit decrease	Illumina [335603]	N
944	chr18	47167213	47167214	rs4939883	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	18q21.1	LIPG	rs4939883-?	NR	1E-9	(HDL-C.assay, whole)	1.238	[NR] unit decrease	Illumina [335603]	N
944	chr18	47167213	47167214	rs4939883	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	18q21.1	LIPG	rs4939883-G	0.83	2E-11		0.1	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
944	chr18	47167213	47167214	rs4939883	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	18q21.1	LIPG	rs4939883-G	0.83	2E-11		0.07	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
944	chr18	47167213	47167214	rs4939883	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	18q21.1	LIPG	rs4939883-T	0.17	7E-15		0.14	[0.10-0.18] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
944	chr18	47172282	47172283	rs2187375	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	18q21.1	LIPG	rs2187375-A	0.17	3E-17	(X-03094)	0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
944	chr18	47181667	47181668	rs2156552	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	HDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	18q21.1	LIPG	rs2156552-T	0.81	2E-12		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
944	chr18	47181667	47181668	rs2156552	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	HDL cholesterol	2,758 individuals	18,544 individuals	18q21.1	LIPG, ACAA2	rs2156552-A	0.18	2E-7		0.07	[0.05-0.09] percentage SD decrease	Affymetrix [389878]	N
944	chr18	47181667	47181668	rs2156552	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	HDL cholesterol	8,656 European ancestry individuals	11,437 European ancestry individuals	18q21.1	LIPG	rs2156552-T	0.84	6E-12		1.2	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
945	chr18	47289048	47289049	rs75116816	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	18q21.1	ACAA2	rs75116816-C	0.79	2E-6	(Right HG area)	7.99	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
951	chr18	48008439	48008440	rs9960150	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	18q21.1	intergenic	rs9960150-?		5E-6				NR [~ 3000000] (imputed)	N
951	chr18	48016886	48016887	rs77990856	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18q21.1	NR	rs77990856-?	NR	5E-11	(AA)	1.9734	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
951	chr18	48016886	48016887	rs77990856	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	18q21.1	NR	rs77990856-?	NR	4E-11	(AA)	1.7919	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
953	chr18	48317158	48317159	rs2586731	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q21.2	MAPK4, MRO	rs2586731-C	0.008	1E-6		6.67	[2.75-16.17]	Illumina [1556551]	N
954	chr18	48378233	48378234	rs732528	21116278	Furney SJ	2010-11-30	Mol Psychiatry	Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.	Entorhinal cortical thickness	424 European ancestry mild cognitive impairment cases, 236 European ancestry Alzheimer's disease cases, 279 European ancestry controls	NA	18q21.2	ME2	rs732528-?	NR	7E-6		0.111	[NR] unit decrease	Illumina [478011]	N
955	chr18	48524160	48524161	rs9807334	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	18q21.2	ELAC1, SMAD4	rs9807334-?	NR	8E-7		1.52	[1.28-1.79]	NR [485522]	N
955	chr18	48524160	48524161	rs9807334	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	18q21.2	ELAC1	rs9807334-A		2E-7	(AA)			Illumina [NR]	N
956	chr18	48690618	48690619	rs7230711	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	18q21.2	SMAD4, MEX3C	rs7230711-C	NR	1E-6		0.162	[0.097-0.227] unit decrease	Affymetrix [736996]	N
956	chr18	48713039	48713040	rs8096445	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune response to smallpox vaccine (IL-6)	Up to 512 European ancestry individuals, 199 African American individuals	NA	18q21.2	MEX3C	rs8096445-A		9E-9	(AA)			Illumina [NR]	N
960	chr18	49190643	49190644	rs1619249	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Folding of antihelix	4,919 Latin American individuals	NA	18q21.2	LOC100287225	rs1619249-A	0.81	1E-8		0.091	unit increase	Illumina [671038]	N
960	chr18	49190643	49190644	rs1619249	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Ear morphology	4,919 Latin American individuals	NA	18q21.2	LOC100287225	rs1619249-A	0.81	4E-8				Illumina [671038]	N
961	chr18	49404963	49404964	rs1351435	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q21.2	LOC100287225	rs1351435-A	0.0050	5E-6	(Birth weight )	0.04	[NR] kg increase	Illumina [899892]	N
966	chr18	49940972	49940973	rs9956738	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	18q21.2	NR	rs9956738-?	0.01	4E-7		2.472	[NR]	Illumina [1468075]	N
966	chr18	49957254	49957255	rs2339345	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	18q21.2	DCC	rs2339345-?		8E-6	(MCRI)	0.25	[0.13-0.37] unit decrease	Illumina [693128]	N
967	chr18	50192395	50192396	rs4940203	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q21.2	DCC	rs4940203-A	0.294	5E-7	(RQmax)	0.05	[NR] unit increase	Illumina [899892]	N
968	chr18	50215411	50215412	rs1460196	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (everolimus)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	18q21.2	DCC	rs1460196-?	NR	9E-6		0.27	[NR] unit increase	Affymetrix, Illumina [1348798]	N
968	chr18	50285397	50285398	rs768048	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol use disorder factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	18q21.2	DCC	rs768048-C	0.12	8E-6		0.11	[NR] unit increase	Illumina [~ 300000]	N
970	chr18	50517775	50517776	rs7504990	22318345	Cha PC	2012-02-09	J Hum Genet	A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.	Gallbladder cancer	41 Japanese ancestry cases, 866 Japanese ancestry controls	30 Japanese ancestry cases, 898 Japanese ancestry controls	18q21.2	DCC	rs7504990-A	0.21	7E-8		6.95	[3.43-14.08]	Illumina [425706] (imputed)	N
972	chr18	50746747	50746748	rs4632195	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q21.2	NR	rs4632195-T	NR	4E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
972	chr18	50818826	50818827	rs62097986	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	18q21.2	DCC	rs62097986-A	0.44	1E-13	(Putamen, EA)	30.28	[22.30-38.26] mm3 increase	Affymetrix, Illumina [NR] (imputed)	N
973	chr18	50906030	50906031	rs11876941	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	18q21.2	DCC	rs11876941-A	NR	5E-6	(Smoking, ever/never)	0.003	[NR] unit decrease	Affymetrix [706791]	N
978	chr18	51526567	51526568	rs1995138	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	18q21.2	MBD2	rs1995138-A	0.08	4E-6	(Age 20-60 years)	0.0957	[0.055-0.136] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
980	chr18	51797331	51797332	rs3730682	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	18q21.2	POL1, STARD6	rs3730682-G	0.189	2E-7		1.16	[1.1-1.23]	Illumina [up to 4778154] (imputed)	N
980	chr18	51816393	51816394	rs144098432	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	18q21.2	POLI	rs144098432-?	NR	6E-11	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
987	chr18	52750687	52750688	rs11874716	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q21.2	NR	rs11874716-T	NR	6E-11		1.07	[NR]	Illumina [7158791] (imputed)	N
987	chr18	52752016	52752017	rs12966547	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	18q21.2	CCDC68	rs12966547-?	0.588	3E-10	(Modelling analysis)			NR [1252901] (imputed)	N
987	chr18	52752016	52752017	rs12966547	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	18q21.2	CCDC68	rs12966547-G	0.58	3E-8		1.4	[1.28-1.52]	Affymetrix, Illumina [1252901] (imputed)	N
987	chr18	52752699	52752700	rs4801131	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	18q21.2	TCF4	rs4801131-C	0.582	1E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [9871789]	N
987	chr18	52821123	52821124	rs9951150	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	18q21.2	intergenic	rs9951150-A		6E-7	(Modelling analysis)	1.06	[1.04-1.09]	NR [1252901] (imputed)	N
988	chr18	52863107	52863108	rs1970671	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	18q21.2	CCDC68, TCF4	rs1970671-G	0.29	3E-6		1.37	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
988	chr18	52949656	52949657	rs1261117	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	18q21.2	TCF4	rs1261117-T	0.06	3E-10	(EA)	1.6	[NR]	NR [1085772] (imputed)	N
989	chr18	53026356	53026357	rs1631486	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	18q21.2	TCF4	rs1631486-A	0.31	4E-6		1.18	[1.10-1.26]	Affymetrix [~ 2000000] (imputed)	N
989	chr18	53050645	53050646	rs72926932	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q21.2	NR	rs72926932-A	NR	2E-6		1.1	[NR]	Illumina [7158791] (imputed)	N
989	chr18	53058237	53058238	rs17594526	19571811	Purcell SM	2009-07-01	Nature	Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.	Schizophrenia	3,322 European ancestry cases, 3,587 European ancestry controls	4,692 European ancestry cases, 15,493 European ancestry controls	18q21.2	TCF4	rs17594526-T	0.03	1E-7		1.44		Affymetrix [739995]	N
989	chr18	53066327	53066328	rs11152369	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	18q21.2	TCF4	rs11152369-A	NR	2E-7	(Modelling analysis)	1.19	[1.12-1.28]	NR [1252901] (imputed)	N
990	chr18	53155001	53155002	rs9960767	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	18q21.2	TCF4	rs9960767-C	0.06	4E-9		1.23	[NR]	Illumina [314868]	N
990	chr18	53194960	53194961	rs17512836	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	18q21.2	TCF4	rs17512836-C	0.02	1E-6		1.23	[1.14-1.31]	Affymetrix, Illumina [1252901] (imputed)	N
990	chr18	53200116	53200117	rs9636107	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q21.2	NR	rs9636107-G	NR	1E-12		1.0752687	[NR]	Illumina [7158791] (imputed)	N
990	chr18	53200116	53200117	rs9636107	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	18q21.2	TCF4	rs9636107-G	0.497	3E-12		1.0752687	[1.05-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
990	chr18	53207206	53207207	rs1452787	22821403	Ellinghaus D	2012-07-23	Hepatology	Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.	Sclerosing cholangitis and ulcerative colitis (combined)	Up to 389 European ancestry primary sclerosing cholangitis cases, 987 European ancestry ulcerative colitis cases, 2,968 European ancestry controls	1,012 European ancestry primary sclerosing cholangitis cases, 4,444 European ancestry ulcerative colitis cases, 11,659 European ancestry controls	18q21.2	TCF4	rs1452787-A	0.72	3E-8	(PSC)	1.33	[1.20-1.47]	Affymetrix [up to 1279891] (imputed)	N
990	chr18	53210301	53210302	rs613872	20825314	Baratz KH	2010-09-09	N Engl J Med	E2-2 protein and Fuchs's corneal dystrophy.	Fuchs's corneal dystrophy	130 European ancestry cases, 260 European ancestry controls	150 cases, 150 controls	18q21.2	TCF4	rs613872-G	0.15	1E-18		5.47	[3.75-7.99]	Illumina [~ 370000]	N
992	chr18	53410911	53410912	rs12458596	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	18q21.2	NR	rs12458596-A	0.638	8E-6	(EA)	0.045	[0.025-0.065] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
993	chr18	53533188	53533189	rs72934570	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q21.2	NR	rs72934570-C	NR	7E-13		1.1627907	[NR]	Illumina [7158791] (imputed)	N
993	chr18	53533188	53533189	rs72934570	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	18q21.2	TCF4	rs72934570-C	0.9203	2E-11		1.1454753	[1.1-1.19]	Affymetrix, Illumina [9005918] (imputed)	N
994	chr18	53664281	53664282	rs1978503	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Breast cancer	58 cases, 665 controls	NA	18q21.2	intergenic	rs1978503-?	NR	1E-6				Affymetrix [70897]	N
995	chr18	53795513	53795514	rs715170	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q21.2	NR	rs715170-C	NR	1E-8		1.0752687	[NR]	Illumina [7158791] (imputed)	N
995	chr18	53855524	53855525	rs12604483	21160409	Petrovski S	2010-12-14	AIDS	Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.	HIV-1 susceptibility	531 Sub-Saharan African ancestry cases, 848 Sub-Saharan African ancestry controls	NA	18q21.2	AC009271.7	rs12604483-?	0.30	7E-6				Illumina [~ 800000]	N
999	chr18	54333583	54333584	rs12959570	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	18q21.31	TXNL1, WDR7	rs12959570-G	0.23	4E-6		1.2	[NR]	Illumina [7659573] (imputed)	N
1000	chr18	54397621	54397622	rs17750015	22064162	Edwards AC	2011-11-05	Psychiatr Genet	Genome-wide association study of comorbid depressive syndrome and alcohol dependence.	Depression and alcohol dependence	467 European ancestry cases, 407 European ancestry controls	NA	18q21.31	WDR7	rs17750015-?	NR	8E-6		1.68	[1.34-2.11]	Illumina [876476]	N
1002	chr18	54752313	54752314	rs1557351	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (age of onset)	978 European ancestry cases, 883 European ancestry controls	NA	18q21.31	WDR7	rs1557351-?	0.22	4E-6			[NR]	Illumina [551642]	N
1004	chr18	54983553	54983554	rs1120787	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	18q21.31	intergenic	rs1120787-?	NR	7E-6	(progression)			Illumina [NR]	N
1005	chr18	55175142	55175143	rs10503015	26105758	Adhikari K	2015-06-24	Nat Commun	A genome-wide association study identifies multiple loci for variation in human ear morphology.	Helix rolling	4,919 Latin American individuals	NA	18q21.31	NR	rs10503015-?	NR	6E-7	(FDR adjusted)			Illumina [671038]	N
1007	chr18	55322501	55322502	rs12968116	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	18q21.31	ATP8B1	rs12968116-C	0.87	9E-10		4.8	[2.80-6.70] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1007	chr18	55434201	55434202	rs7236632	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	18q21.31	ATP8B1	rs7236632-A	0.86	6E-6				Perlegen [378332]	N
1008	chr18	55454376	55454377	rs10503019	19890347	Birlea SA	2009-11-05	J Invest Dermatol	Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.	Vitiligo	32 Romanian founder cases, 44 European ancestry controls	NA	18q21.31	ATP8B1	rs10503019-?	0.28	3E-6				Illumina [297342]	N
1008	chr18	55491964	55491965	rs2187324	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	18q21.31	ATP8B1	rs2187324-T	NR	4E-6		4.614	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1008	chr18	55496304	55496305	rs62094879	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	18q21.31	intergenic	rs62094879-T		6E-6		0.2917	unit decrease	Illumina [5767231] (imputed)	N
1009	chr18	55627839	55627840	rs11875185	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	18q21.31	intergenic	rs11875185-?	NR	7E-6				Affymetrix [NR]	N
1009	chr18	55637711	55637712	rs12457254	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	18q21.31	intergenic	rs12457254-?		5E-6				NR [~ 3000000] (imputed)	N
1010	chr18	55783496	55783497	rs529445	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	18q21.31	NEDD4L	rs529445-?		3E-6				Illumina [859311]	N
1010	chr18	55810732	55810733	rs549476	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	18q21.31	NEDD4L	rs549476-?	NR	3E-6	(SF5)			Affymetrix [5476100] (imputed)	N
1011	chr18	55910522	55910523	rs158856	22754043	Byrne EM	2012-07-01	Sleep	A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.	Insomnia (caffeine-induced)	2,402 European ancestry individuals from 1,470 families	NA	18q21.31	NEDD4L	rs158856-?	0.66	7E-6		1.41	[1.20-1.61]	Illumina [2380486] (imputed)	N
1012	chr18	56009603	56009604	rs12454023	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	18q21.31	intergenic	rs12454023-?	0.5	8E-7		1.12	[1.08-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1012	chr18	56020508	56020509	rs9963330	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q21.31	NEDD4L, LOC100132992, ALPK2	rs9963330-A	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
1012	chr18	56084053	56084054	rs4503880	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	18q21.31	NEDD4L	rs4503880-T	0.21	3E-12		3.6	[2.50-4.70] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1013	chr18	56109858	56109859	rs8099014	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Platelet count	115 African ancestry HIV-negative individuals	NA	18q21.31	AC105105.1	rs8099014-?	NR	6E-6				Illumina [874956]	N
1013	chr18	56213389	56213390	rs12456021	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	18q21.31	ALPK2	rs12456021-A	NR	4E-6		1.1	[1.08-1.12]	Illumina [465434]	N
1015	chr18	56384191	56384192	rs7238078	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	18q21.32	MALT1	rs7238078-A	NR	3E-9		1.12	[1.1-1.14]	Illumina [465434]	N
1016	chr18	56602701	56602702	rs73439953	26121980	Chauhan L	2015-06-30	BMC Genomics	Genome-wide association analysis identified splicing single nucleotide polymorphism in CFLAR predictive of triptolide chemo-sensitivity.	Triptolide cytotoxicity	55 European ancestry lymphoblastoid cell lines	NA	18q21.32	ZNF532	rs73439953-?	NR	8E-7		0.61	unit decrease	NR [at least 1978803] (imputed)	N
1017	chr18	56752053	56752054	rs1037757	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	18q21.32	LOC390958, Sec11C	rs1037757-?	NR	8E-6		4.5618	unit decrease	Illumina [2543888] (imputed)	N
1018	chr18	56878273	56878274	rs1517037	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	18q21.32	NR	rs1517037-?	NR	8E-7	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1018	chr18	56878273	56878274	rs1517037	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	18q21.32	GRP	rs1517037-C	0.818	3E-7		1.1494253	[1.09-1.2]	Illumina [866891] (imputed)	N
1018	chr18	56883318	56883319	rs7243357	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q21.32	GRP	rs7243357-T	0.813	9E-9		0.022	[0.014-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1018	chr18	56883318	56883319	rs7243357	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q21.32	GRP	rs7243357-T	0.812	4E-8	(EA)	0.022	[0.014-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1018	chr18	56883318	56883319	rs7243357	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q21.32	GRP	rs7243357-T	0.81	1E-6	(EA, men)	0.025	[0.015-0.036] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1021	chr18	57152037	57152038	rs12955474	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	18q21.32	CCBE1	rs12955474-?		4E-7	(PC3)	0.099	[NR] unit decrease	Illumina [4167292] (imputed)	N
1022	chr18	57314806	57314807	rs11152166	23857890	Power RA	2013-07-15	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association analysis accounting for environmental factors through propensity-score matching: application to stressful live events in major depressive disorder.	Major depressive disorder	805 European ancestry cases, 805 European ancestry controls	NA	18q21.32	CCBE1	rs11152166-?	0.58	3E-6		1.41	[1.22-1.61]	Illumina [457670]	N
1023	chr18	57503377	57503378	rs8093763	21106707	Gu J	2010-11-24	Hum Mol Genet	A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity.	Response to bleomycin (chromatid breaks)	673 European ancestry individuals	834 European ancestry individuals	18q21.32	PMAIP, Noxa	rs8093763-A	0.25	3E-8		0.18	[0.12-0.24] unit increase	Illumina [539437]	N
1024	chr18	57622286	57622287	rs4368253	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	18q21.32	PMAIP1	rs4368253-C	0.69	3E-8		1.19	[1.12-1.27]	Illumina [549934]	N
1025	chr18	57673798	57673799	rs12964056	24348519	Namjou B	2013-12-03	Front Genet	EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.	Body mass index	up to 2,860 European ancestry children	NA	18q21.32	MC4R	rs12964056-A	0.24	7E-7		4.98	[NR] z score decrease	Affymetrix, Illumina [up to 583824] (imputed)	N
1025	chr18	57734856	57734857	rs7234864	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	18q21.32	MC4R, PMAIP1	rs723486-T	0.26	4E-17		0.081	[0.061-0.101] unit increase	Affymetrix, Illumina [557887] (imputed)	N
1025	chr18	57751013	57751014	rs12957347	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	18q21.32	PMAIP1	rs12957347-?	0.36	7E-6	(Metabolic syndrome)			Illumina [308011]	N
1026	chr18	57811981	57811982	rs17700144	20421936	Scherag A	2010-04-22	PLoS Genet	Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.	Obesity (early onset extreme)	1,138 European ancestry cases, 1,120 European ancestry normal or lean controls	1,181 European ancestry cases, 1,960 European ancestry normal or lean controls, 981 European ancestry cases  and 1,430 European ancestry controls from 715 families	18q21.32	MC4R	rs17700144-A	NR	6E-11		1.22	[1.09-1.37]	Affymetrix, Illumina [1596878] (imputed)	N
1026	chr18	57828636	57828637	rs2331841	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	18q21.32	MC4R	rs2331841-A	0.25	2E-11		0.046	[0.032-0.060] unit increase	Illumina [2178018] (imputed)	N
1026	chr18	57829134	57829135	rs6567160	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q21.32	MC4R	rs6567160-C	0.237	5E-34	(EA, women)	0.056	[0.047-0.065] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1026	chr18	57829134	57829135	rs6567160	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q21.32	MC4R	rs6567160-C	0.236	7E-59		0.056	[0.049-0.063] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1026	chr18	57829134	57829135	rs6567160	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q21.32	MC4R	rs6567160-C	0.236	4E-53	(EA)	0.056	[0.049-0.063] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1026	chr18	57829134	57829135	rs6567160	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q21.32	MC4R	rs6567160-C	0.234	5E-30	(EA, men)	0.055	[0.045-0.064] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1026	chr18	57829134	57829135	rs6567160	24064335	Pei YF	2013-10-08	Hum Mol Genet	Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.	Fat body mass	6,433 European ancestry individuals, 709 African American individuals, 408 Hispanic individuals, 1,622 Han Chinese ancestry individuals	4,967 European ancestry individuals, 2,740 Han Chinese ancestry individuals	18q21.32	MC4R	rs6567160-C	NR	3E-11		0.09	[0.07-0.11] unit increase	Affymetrix, Illumina [4325550] (imputed)	N
1026	chr18	57829134	57829135	rs6567160	24064335	Pei YF	2013-10-08	Hum Mol Genet	Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.	Body mass index	8,463 European ancestry individuals, 7,478 African American individuals, 3,348 Hispanic individuals, 1,624 Han Chinese ancestry individuals	4,979 European ancestry individuals, 2,740 Han Chinese ancestry individuals	18q21.32	MC4R	rs6567160-C	NR	8E-19		0.09	[0.070-0.110] kg/m2 increase	Affymetrix, Illumina [4325550] (imputed)	N
1026	chr18	57839768	57839769	rs571312	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index (age interaction)	9,377 children and adolescents	3,918 European ancestry children and adolescents	18q21.32	MC4R	rs571312-A	0.234	5E-9				Illumina [~ 2200000] (imputed)	N
1026	chr18	57839768	57839769	rs571312	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index	9,377 children and adolescents	3,918 European ancestry children and adolescents	18q21.32	MC4R	rs571312-A	0.234	5E-7	(age 8)	0.14	[0.14-0.14] unit increase	Illumina [~ 2200000] (imputed)	N
1026	chr18	57839768	57839769	rs571312	25953783	Warrington NM	2015-05-07	Int J Epidemiol	A genome-wide association study of body mass index across early life and childhood.	Body mass index	9,377 children and adolescents	3,918 European ancestry children and adolescents	18q21.32	MC4R	rs571312-A	0.234	4E-9	(age 1-17)			Illumina [~ 2200000] (imputed)	N
1026	chr18	57839768	57839769	rs571312	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	18q21.32	MC4R	rs571312-A	0.24	6E-42		0.23	[0.17-0.29] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
1026	chr18	57841588	57841589	rs591166	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	18q21.32	MC4R	rs591166-A	0.24	7E-14		0.0464	[0.034-0.059] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1026	chr18	57849022	57849023	rs12967135	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	18q21.32	MC4R	rs12967135-A	0.25	4E-8		0.026	[NR] unit decrease	NR [NR] (imputed)	N
1026	chr18	57849022	57849023	rs12967135	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	18q21.32	MC4R, RPS3A	rs12967135-A	0.23	7E-9		0.42	[0.24-0.6] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1026	chr18	57850421	57850422	rs538656	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	18q21.32	MC4R	rs538656-T	0.24	2E-36	(Obesity class I)	1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1026	chr18	57851096	57851097	rs17782313	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	18q21.32	MC4R	rs17782313-T	0.79	2E-8		0.039	[0.025-0.053] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
1026	chr18	57851096	57851097	rs17782313	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	18q21.32	MC4R	rs17782313-T	0.76	4E-11		0.028	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
1026	chr18	57851096	57851097	rs17782313	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	18q21.32	MC4R	rs17782313-C	0.24	4E-9	(adults)	1.26	[1.09-1.43]	Illumina [308846]	N
1026	chr18	57851096	57851097	rs17782313	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	18q21.32	MC4R	rs17782313-C	0.18	5E-15				Illumina [308846]	N
1026	chr18	57851096	57851097	rs17782313	19151714	Meyre D	2009-01-18	Nat Genet	Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.	Obesity	695 European ancestry adult cases, 731 European ancestry adult controls, 685 European ancestry child cases, 685 European ancestry child controls	1,171 European ancestry adult cases, 1,114 European ancestry adult controls, 4,417 European ancestry adults, 896 European ancestry child cases, 1,297 European ancestry child and young adult controls, 5,291 European ancestry children	18q21.32	MC4R	rs17782313-C	0.18	2E-8	(children)	1.22	[1.05-1.40]	Illumina [308846]	N
1026	chr18	57851096	57851097	rs17782313	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	18q21.32	MC4R	rs17782313-C	0.21	5E-18		0.2	[0.12-0.28] kg/m2 increase	Affymetrix, Illumina [2399588] (imputed)	N
1026	chr18	57851096	57851097	rs17782313	18454148	Loos RJ	2008-05-04	Nat Genet	Common variants near MC4R are associated with fat mass, weight and risk of obesity.	Body mass index	16,876 European ancestry adult individuals	60,352 European ancestry adult individuals, 5,988 European ancestry children	18q21.32	MC4R	rs17782313-C	0.24	3E-15		0.05	[0.04-0.06] unit increase	Affymetrix [344883]	N
1026	chr18	57851762	57851763	rs10871777	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	18q21.32	MC4R	rs10871777-G	0.24	2E-27	(Overweight)	1.1	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1026	chr18	57852586	57852587	rs476828	23563609	Wheeler E	2013-04-07	Nat Genet	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.	Obesity (early onset extreme)	1,509 European ancestry cases, 5,380 European ancestry controls	971 European ancestry cases, 1,990 European ancestry controls	18q21.32	MC4R	rs476828-C	0.24	9E-14		1.33	[1.23-1.43]	Affymetrix [~ 2000000] (imputed)	N
1026	chr18	57852947	57852948	rs11152213	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	18q21.32	MC4R	rs11152213-A	0.755	7E-13		0.025	[0.017-0.033] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
1026	chr18	57852947	57852948	rs11152213	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	18q21.32	MC4R	rs11152213-C	0.24	3E-22	(Obesity class II)	1.19	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1026	chr18	57858828	57858829	rs8089364	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Body mass index	7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals	4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals	18q21.32	MC4R	rs8089364-C	0.27	4E-21		1.24	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
1026	chr18	57872988	57872989	rs12955983	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	18q21.32	MC4R	rs12955983-A	0.73	2E-6	(women)	0.036	[0.022-0.051] mg/dl decrease	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
1026	chr18	57882786	57882787	rs489693	22566560	Malhotra AK	2012-05-07	Arch Gen Psychiatry	Association between common variants near the melanocortin 4 receptor gene and severe antipsychotic drug-induced weight gain.	Antipsychotic drug-induced weight gain	77 European ancestry individuals, 32 African American individuals, 30 individuals	183 European ancestry individuals, 22 African American individuals	18q21.32	MC4R	rs489693-?	0.34	6E-12				Illumina [803582]	N
1026	chr18	57882786	57882787	rs489693	19557197	Heard-Costa NL	2009-06-26	PLoS Genet	NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.	Waist circumference	31,373 European ancestry individuals	38,641 individuals	18q21.32	MC4R	rs489693-?	NR	4E-7				Affymetrix, Illumina [up to 512349]	N
1026	chr18	57884749	57884750	rs12970134	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	18q21.32	MC4R	rs12970134-A	0.27	3E-8		1.08	[1.03-1.12]	Affymetrix, Illumina [2500000] (imputed)	N
1026	chr18	57884749	57884750	rs12970134	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	18q21.32	MC4R	rs12970134-A	0.3	5E-13		4.66	[3.41-5.91] percentage SD increase	Illumina [305846]	N
1026	chr18	57884749	57884750	rs12970134	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	18q21.32	MC4R	rs12970134-A	0.3	1E-12		4.38	[3.16-5.60] % SD increase	Illumina [305846]	N
1026	chr18	57884749	57884750	rs12970134	18454146	Chambers JC	2008-05-04	Nat Genet	Common genetic variation near MC4R is associated with waist circumference and insulin resistance.	Waist circumference and related phenotypes	2,684 Indian Asian ancestry male individuals	7,394 Indian Asian ancestry individuals, 4,561 European ancestry individuals	18q21.32	MC4R	rs12970134-A	0.36	2E-9	(waist circumference)	0.88	[0.59-1.17] cm increase	Illumina [308067]	N
1027	chr18	57963116	57963117	rs17773430	22013104	Melka MG	2011-10-19	J Clin Endocrinol Metab	Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.	Obesity-related traits	598 French Canadian founder adolescent individuals	NA	18q21.32	MC4R	rs17773430-?		6E-6	(BMI)			Illumina [530011]	N
1028	chr18	58109189	58109190	rs4257308	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	18q21.32	NR	rs4257308-?	0.04	6E-6		1.55	[1.30-1.90]	Affymetrix [> 333754] (imputed)	N
1030	chr18	58375933	58375934	rs2168303	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Gout	2,115 European ancestry cases, 67,259 European ancestry controls	1,036 European ancestry cases	18q21.32	NR	rs2168303-A	0.9953	2E-7		1.9403	[1.21-2.67] unit decrease	Affymetrix, Illumina [2538056] (imputed)	N
1033	chr18	58826021	58826022	rs142981069	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (age at onset)	5,148 European ancestry users	NA	18q21.32	NR	rs142981069-G		7E-7		0.47	[0.29-0.65] unit increase	NR [5896100] (imputed)	N
1037	chr18	59266370	59266371	rs2032366	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q21.33	CDH20	rs2032366-G	0.488	6E-6	(Energy balance )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1041	chr18	59838918	59838919	rs62096106	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	18q21.33	NR	rs62096106-G	NR	9E-6	(phenotype 1)	3.57	[NR]	Illumina [> 8000000] (imputed)	N
1041	chr18	59838918	59838919	rs62096106	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to abacavir-containing treatment in HIV-1 infection (virologic failure)	Up 346 European ancestry individuals, Up to 265 Black individuals, Up to 175 Hispanic individuals	NA	18q21.33	NR	rs62096106-G	NR	9E-6	(phenotype 3)	3.57	[NR]	Illumina [> 8000000] (imputed)	N
1042	chr18	60016232	60016233	rs4263037	25643325	Renton AE	2015-04-01	JAMA Neurol	A Genome-wide Association Study of Myasthenia Gravis.	Myasthenia gravis	972 European ancestry cases, 1,977 European ancestry controls	423 European ancestry cases, 467 European ancestry controls	18q21.33	TNFRSF11A	rs4263037-G	0.38	1E-8		1.26	[NR]	Illumina [8114394] (imputed)	N
1043	chr18	60054856	60054857	rs884205	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	18q21.33	TNFRSF11A	rs884205-C	NR	2E-7	(EA)	0.1033	[0.064-0.143] unit increase	Illumina [~ 2500000] (imputed)	N
1043	chr18	60054856	60054857	rs884205	24945404	Kemp JP	2014-06-19	PLoS Genet	Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.	Bone mineral density (paediatric, skull)	7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children	NA	18q21.33	TNFRSF11A	rs884205-C	0.75	2E-8		0.104	[0.069-0.139] unit increase	Illumina [~ 2500000] (imputed)	N
1043	chr18	60054856	60054857	rs884205	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	18q21.33	TNFRSF11A	rs884205-A	0.27	2E-17	(LSBMD)	0.05	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1043	chr18	60054856	60054857	rs884205	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	18q21.33	TNFRSF11A	rs884205-A	0.27	9E-9		0.08	[0.05-0.11] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
1043	chr18	60060734	60060735	rs2957128	20436471	Albagha OM	2010-05-02	Nat Genet	Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.	Paget's disease	692 European ancestry cases, 1,001 European ancestry controls	256 European ancestry cases, 488 European ancestry controls	18q21.33	TNFRSF11A	rs2957128-A	0.38	2E-11		1.46	[1.30-1.63]	Illumina [294663]	N
1043	chr18	60080111	60080112	rs2980976	23241943	Clark SL	2012-12-12	Pharmacogenet Genomics	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	Response to antipsychotic treatment	Up to 421 European ancestry Schizophrenia cases, up to 214 African American individuals, up to 103 individuals	NA	18q21.33	TNFRSF11A	rs2980976-A	0.168	3E-7	(Effect of Risperidone on CGI-S)			Affymetrix [492900]	N
1043	chr18	60082092	60082093	rs3018362	21623375	Albagha OM	2011-05-29	Nat Genet	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.	Paget's disease	741 European ancestry cases, 2,699 European ancestry controls	1,474 European ancestry cases, 1,671 European ancestry controls	18q21.33	TNFRSF11A	rs3018362-A	0.36	8E-21		1.45	[1.34-1.56]	Illumina [2487078] (imputed)	N
1043	chr18	60082092	60082093	rs3018362	20436471	Albagha OM	2010-05-02	Nat Genet	Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.	Paget's disease	692 European ancestry cases, 1,001 European ancestry controls	256 European ancestry cases, 488 European ancestry controls	18q21.33	TNFRSF11A	rs3018362-A	0.34	5E-13		1.52	[1.36-1.70]	Illumina [294663]	N
1043	chr18	60082092	60082093	rs3018362	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (hip)	5,861 European ancestry individuals	7,925 European ancestry individuals	18q21.33	RANK	rs3018362-A	0.35	1E-6		0.07	[0.04-0.10] s.d. decrease	Illumina [301019]	N
1043	chr18	60126111	60126112	rs694419	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	18q21.33	TNFRSF11A, ZCCHC2	rs694419-T	0.52	4E-9		0.0095	[0.0064-0.0126] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1043	chr18	60126111	60126112	rs694419	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	18q21.33	TNFRSF11A, ZCCHC2	rs694419-T	0.52	1E-8	(EA)	0.0093	[0.0062-0.0124] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1044	chr18	60269355	60269356	rs9807759	25475840	Colodro-Conde L	2014-12-05	Twin Res Hum Genet	A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan.	Breastfeeding duration	1,521 mothers from 1,073 families	NA	18q21.33	ZCCHC2	rs9807759-?	NR	1E-6		0.401	[0.24-0.56] unit decrease	Illumina [6590000] (imputed)	N
1048	chr18	60783210	60783211	rs17749561	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	18q21.33	BCL2	rs17749561-G	0.91	8E-10		1.34	[1.22-1.47]	Illumina [up to 21554489]	N
1048	chr18	60793548	60793549	rs4987855	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	18q21.33	BCL2	rs4987855-G	0.91	3E-12		1.47	[1.32-1.61]	Illumina [549934]	N
1048	chr18	60793920	60793921	rs4987852	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	18q21.33	BCL2	rs4987852-?	NR	8E-11		1.41	[NR]	Illumina [549934]	N
1049	chr18	60845883	60845884	rs12454712	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q21.33	BCL2	rs12454712-C	0.397	6E-6		0.017	[0.0095-0.0241] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1049	chr18	60845883	60845884	rs12454712	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	18q21.33	BCL2	rs12454712-T	0.6149	3E-9	(women)	0.0329	[0.022-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1049	chr18	60845883	60845884	rs12454712	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	18q21.33	BCL2	rs12454712-T	0.6089	1E-9	(EA, women)	0.0347	[0.024-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
1049	chr18	60859320	60859321	rs899967	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	18q21.33	BCL2	rs899967-C	NR	7E-6	(Continous Variable)	0.04	[0.02-0.05] ug/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1050	chr18	60994120	60994121	rs139419907	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	18q21.33	NR	rs139419907-?	NR	3E-6	(Japanese)	0.762	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1051	chr18	61145706	61145707	rs79285331	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18q21.33	NR	rs79285331-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
1051	chr18	61176265	61176266	rs2032224	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)	119 Japanese ancestry cases, 105 Japanese ancestry controls	NA	18q21.33	SERPINB5	rs2032224-A	0.62	9E-6	(Recessive)	2.16	[1.42-3.27]	Illumina [555600]	N
1051	chr18	61202254	61202255	rs17770334	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Pyoderma gangrenosum in inflammatory bowel disease	92 European ancestry cases, 5,664 European ancestry controls	NA	18q21.33	SERP1NB3/4/5J7J11J13, BCL2, VPS4B, KDSR	rs17770334-C	NR	2E-6		3.1	[1.90-4.80]	Illumina [2017629] (imputed)	N
1057	chr18	61877155	61877156	rs4534959	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	18q22.1	SERPINB8	rs4534959-?	0.03	7E-7	(FEV1 65%)	1.7241	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
1059	chr18	62169091	62169092	rs10469266	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	18q22.1	NR	rs10469266-A	0.9837	2E-8	(Trans/trans-18:2, EA)	0.007	[0.0046-0.0094] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1059	chr18	62170725	62170726	rs4553720	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)	147 Japanese ancestry cases, 233 Japanese ancestry controls	NA	18q22.1	LOC284294	rs4553720-T	0.281	7E-6	(Recessive model)	1.547	[1.131-2.116]	Illumina [733202]	N
1061	chr18	62418443	62418444	rs17073641	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (smoking status interaction)	548 European ancestry ever smoking cases, 278 European ancestry ever smoking controls, 346 European ancestry never smoking cases, 247 European ancestry never smoking controls	NA	18q22.1	intergenic	rs17073641-C	0.45	1E-7				Affymetrix [2543887] (imputed)	N
1064	chr18	62884917	62884918	rs605920	23247143	Yu B	2012-12-16	Circ Cardiovasc Genet	Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.	Cardiac Troponin-T levels	9,491 European ancestry individuals, up to 2,053 African American individuals	NA	18q22.1	CDH7	rs605920-C	NR	6E-6	(Continous Variable)	0.04	[0.02-0.05] ug/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1064	chr18	62898665	62898666	rs637644	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)	64 Japanese ancestry cases, 27 Japanese ancestry controls	NA	18q22.1	CDH7	rs637644-G	0.80	7E-6	(Allelic)	32.5	[4.08-259]	Illumina [555600]	N
1065	chr18	62998774	62998775	rs8083346	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	18q22.1	intergenic	rs8083346-G	0.346	6E-6		0.0278	[NR] % decrease	Affymetrix, Illumina [2522393] (imputed)	N
1065	chr18	63031235	63031236	rs470490	21041692	Denny JC	2010-11-01	Circulation	Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.	Atrioventricular conduction	2,334 European ancestry individuals	NA	18q22.1	C18orf20, LOC643448	rs470490-G	0.39	5E-6		2.45	[1.41-3.49] ms increase	Illumina [514999]	N
1077	chr18	64570384	64570385	rs7234531	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	18q22.1	DSEL, CDH19	rs7234531-?	NR	3E-7	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1078	chr18	64699973	64699974	rs73963343	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	18q22.1	NR	rs73963343-?	NR	9E-8				Affymetrix [5486770] (imputed)	N
1080	chr18	64952212	64952213	rs8099213	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		18q22.1	NR	rs8099213-A	0.35	5E-6	(non t11;14 and t4;14 IgH translocations vs. controls)	1.52	[1.27-1.81]	Illumina [414804] (imputed)	N
1081	chr18	65017099	65017100	rs2124349	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	18q22.1	C18orf4, DSEL	rs2124349-?	0.04926	4E-6	(IED)			Illumina [475971]	N
1083	chr18	65285278	65285279	rs17077540	20125088	Shi J	2010-02-02	Mol Psychiatry	Genome-wide association study of recurrent early-onset major depressive disorder.	Major depressive disorder	1,020 European ancestry cases, 1,636 European ancestry controls	NA	18q22.1	DSEL	rs17077540-G	0.11	2E-7		1.61		Affymetrix [671424]	N
1083	chr18	65400424	65400425	rs13353224	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	18q22.1	intergenic	rs13353224-?	NR	9E-6	(count)			Perlegen [429981]	N
1084	chr18	65470133	65470134	rs11660238	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	18q22.1	NR	rs11660238-?	NR	2E-6				NR [up to 8466825] (imputed)	N
1084	chr18	65470748	65470749	rs114535501	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	18q22.1	NR	rs114535501-?	NR	6E-6				NR [up to 8466825] (imputed)	N
1084	chr18	65471517	65471518	rs74789784	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	18q22.1	NR	rs74789784-?	NR	2E-6				NR [up to 8466825] (imputed)	N
1084	chr18	65472042	65472043	rs75687134	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	18q22.1	NR	rs75687134-?	NR	2E-6				NR [up to 8466825] (imputed)	N
1084	chr18	65483811	65483812	rs11661646	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	18q22.1	NR	rs11661646-?	NR	6E-6				NR [up to 8466825] (imputed)	N
1086	chr18	65718955	65718956	rs12964323	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	18q22.1	NR	rs12964323-?	NR	2E-6		3.419	[NR]	Illumina [4196861] (imputed)	N
1086	chr18	65723000	65723001	rs8087995	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	18q22.1	intergenic	rs8087995-?	NR	2E-6		3.4	[2.05-5.62]	Illumina [4196861] (imputed)	N
1090	chr18	66214695	66214696	rs7244261	25917933	Zai CC	2014-11-20	J Psychiatr Res	A genome-wide association study of suicide severity scores in bipolar disorder.	Suicide in bipolar disorder	959 European ancestry individuals	NA	18q22.1	TMX3	rs7244261-T		4E-6	(suicide attempt)	4.606	z score increase	Affymetrix, Illumina [2659407] (imputed)	N
1090	chr18	66292258	66292259	rs17232800	23728934	Yang L	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.	Attention deficit hyperactivity disorder	1,040 Han Chinese ancestry cases, 963 Han Chinese ancestry controls	NA	18q22.1	TMX3	rs17232800-?	NR	3E-6				Affymetrix [656051]	N
1090	chr18	66314071	66314072	rs1704734	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	18q22.1	NR	rs1704734-?	NR	6E-6		1.3235	[NR]	Affymetrix [722112]	N
1092	chr18	66544754	66544755	rs1539893	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	18q22.1	CCDC102B	rs1539893-G	0.188	3E-6		0.06	[0.035-0.085] unit increase	Illumina [747076]	N
1097	chr18	67142856	67142857	rs17184557	20548944	Hsu YH	2010-06-10	PLoS Genet	An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.	Osteoporosis-related phenotypes	2,038 European ancestry female individuals, 1,531 European ancestry male individuals	5,595 European ancestry female individuals, 2,126 European ancestry male individuals	18q22.2	DOK6	rs17184557-A	0.23	9E-7	(LS BMD, women)	0.13	[NR] g/cm2 increase	Affymetrix [433510]	N
1098	chr18	67283140	67283141	rs10513968	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	18q22.2	DOK6	rs10513968-?		1E-6				Affymetrix, Illumina [1348798]	N
1100	chr18	67530438	67530439	rs727088	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	18q22.2	NR	rs727088-G	0.4822	1E-6	(EA)	1.0637558	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1100	chr18	67530438	67530439	rs727088	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	18q22.2	CD226	rs727088-G	0.484	5E-9		1.077	[1.046-1.108]	Affymetrix, Illumina [1230000] (imputed)	N
1100	chr18	67531641	67531642	rs763361	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	18q22.2	CD226	rs763361-C	NR	1E-9	(T1D)	1.12	[NR]	Affymetrix, Illumina [NR]	N
1100	chr18	67531641	67531642	rs763361	17554260	Todd JA	2007-06-06	Nat Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Type 1 diabetes	2,000 European ancestry cases, 3,000 European ancestry controls	2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls	18q22.2	CD226	rs763361-A	0.47	1E-8		1.16	[1.10-1.22]	Affymetrix [NR]	N
1100	chr18	67536495	67536496	rs12969657	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	18q22.2	CD226	rs12969657-T	NR	3E-11		0.007	[0.005-0.009] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1100	chr18	67537350	67537351	rs17207042	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	18q22.2	NR	rs17207042-?	NR	2E-9	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1100	chr18	67544045	67544046	rs2469434	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	18q22.2	CD226	rs2469434-C	0.4	9E-10		1.07	[1.05-1.10]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1100	chr18	67544045	67544046	rs2469434	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	18q22.2	CD226	rs2469434-C	0.37	1E-8	(East Asian)	1.11	[1.07-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
1104	chr18	68142413	68142414	rs8092443	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	18q22.2	intergenic	rs8092443-?	0.225	1E-6	(risperidone-hemoglobin A1c)			Affymetrix [492900]	N
1104	chr18	68153619	68153620	rs11663206	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	18q22.2	intergenic	rs11663206-?	0.289	2E-6	(risperidone-hemoglobin A1c)			Affymetrix [492900]	N
1108	chr18	68628077	68628078	rs2660917	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	18q22.2	intergenic	rs2660917-?	NR	8E-6	(serum ferritin)			Illumina [315887]	N
1110	chr18	68842242	68842243	rs17083844	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	18q22.3	SOCS6	rs17083844-A	0.03	6E-6				Illumina [502033]	N
1112	chr18	69096397	69096398	rs17084405	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	18q22.3	LOC100505776	rs17084405-A	0.01	1E-7		12.1	[NR]	Affymetrix [4893794] (imputed)	N
1113	chr18	69248594	69248595	rs1539909	22569225	Krintel SB	2012-05-06	Pharmacogenet Genomics	Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis.	Response to TNF-alpha inhibitors in rheumatoid arthritis	196 European ancestry cases	NA	18q22.3	CBLN2	rs1539909-?	NR	4E-6	(Relative change in DAS28)			Illumina [486450]	N
1113	chr18	69274570	69274571	rs35815903	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18q22.3	NR	rs35815903-?	NR	3E-7		0.3674	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1114	chr18	69365299	69365300	rs11665307	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q22.3	NR	rs11665307-C	0.173309217119929	3E-7	(IGP61)	0.2071	[0.13-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
1114	chr18	69379389	69379390	rs2887004	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q22.3	NR	rs2887004-G	0.181545600983021	2E-6	(IGP58)	0.193	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
1114	chr18	69379389	69379390	rs2887004	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q22.3	NR	rs2887004-G	0.180826079677708	6E-6	(IGP6)	0.1862	[0.11-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
1114	chr18	69439072	69439073	rs17085106	19656524	Grant SF	2009-08-03	J Pediatr	A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.	Orofacial clefts	111 European ancestry cases, 5,951 European ancestry controls	NA	18q22.3	intergenic	rs17085106-?	0.018	4E-8		4.07	[2.37-7.00]	Illumina [495858]	N
1115	chr18	69479920	69479921	rs970510	26220383	Jang HW	2015-06-02	Epilepsy Res	GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.	Epilepsy and lamotrigine-induced maculopapular eruptions	34 Korean ancestry cases, 1,080 Korean ancestry healthy controls	NA	18q22.3	LOC101927537	rs970510-?	0.02	7E-7		6.5	[NR]	Affymetrix [4893794] (imputed)	N
1117	chr18	69774277	69774278	rs337718	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q22.3	NR	rs337718-T	NR	4E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
1117	chr18	69774277	69774278	rs337718	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	18q22.3	CBLN2	rs337718-?	0.29	9E-6			[NR]	Illumina [551642]	N
1118	chr18	69926756	69926757	rs8088832	24700089	Miura K	2014-04-04	J Med Virol	Genome-wide association study of HPV-associated cervical cancer in Japanese women.	Cervical cancer	226 Japanese ancestry cases, 186 Japanese ancestry controls	NA	18q22.3	intergenic	rs8088832-C	0.508	4E-6		1.94	[1.46-2.57]	Affymetrix [556045]	N
1120	chr18	70129471	70129472	rs117120368	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	18q22.3	NR	rs117120368-?		8E-7	(PCB118)	0.8	[0.49-1.11] unit increase	Illumina [8736858] (imputed)	N
1120	chr18	70150938	70150939	rs2217560	23502781	Germain M	2013-03-17	Nat Genet	Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.	Pulmonary arterial hypertension (without BMPR2 mutations)	340 European ancestry cases, 1,068 European ancestry controls	285 cases, 457 controls	18q22.3	CBLN2	rs2217560-G	0.069	7E-10		1.97	[1.59-2.45]	Illumina [462499]	N
1120	chr18	70227020	70227021	rs17086172	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	18q22.3	CBLN	rs17086172-?	0.06	7E-6	(no asthma)	1.35		Affymetrix, Illumina [up to 2500000] (imputed)	N
1121	chr18	70285456	70285457	rs8093502	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	18q22.3	NR	rs8093502-?		2E-6	(females)			Illumina [1211988] (imputed)	N
1122	chr18	70442067	70442068	rs41418949	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	18q22.3	NETO1	rs41418949-T	NR	6E-7		0.358	[0.22-0.50] unit decrease	Illumina [628922]	N
1123	chr18	70546469	70546470	rs2156107	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	18q22.3	NETO1	rs2156107-C	0.05	3E-6		0.144	[0.083-0.205] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
1123	chr18	70546469	70546470	rs2156107	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	18q22.3	NETO1	rs2156107-C	0.03	1E-6	(EA)	0.203	[0.12-0.29] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
1124	chr18	70669245	70669246	rs2469054	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	18q22.3	NR	rs2469054-A	0.0211	5E-6	(Trans/trans-18:2, EA)	0.0053	[0.0029-0.0077] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1127	chr18	71058621	71058622	rs1943816	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal P-tau181p levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	18q22.3	intergenic	rs1943816-C	NR	1E-7	(Controls)			Illumina [498205]	N
1127	chr18	71167751	71167752	rs7240777	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	18q22.3	NETO1, FBXO15	rs7240777-A	0.5632	3E-8	(FT4-Females)	0.083	[0.054-0.112] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1128	chr18	71211744	71211745	rs1942771	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	18q22.3	intergenic	rs1942771-?	NR	8E-6		0.0295	[0.017-0.042] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
1128	chr18	71266518	71266519	rs7231996	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Psychotic symptoms in prion disease	Up to 170 cases	NA	18q22.3	LOC100505817	rs7231996-?	0.131	3E-6		5.56	[2.59-11.95]	Illumina [518938]	N
1128	chr18	71267053	71267054	rs12959200	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	18q22.3	intergenic	rs12959200-?	0.141	2E-6		1.68	[NR]	Illumina [3922209] (imputed)	N
1130	chr18	71476132	71476133	rs17088339	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	18q22.3	FBXO15	rs17088339-A	0.02	6E-6	(AA)	0.68	[0.39-0.97] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
1130	chr18	71522090	71522091	rs17088439	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	18q22.3	FBXO15	rs17088439-T	0.0434	3E-6		2.2772	[NR] unit decrease	Illumina [1216189] (imputed)	N
1131	chr18	71581505	71581506	rs2278331	23728906	Byrne EM	2013-05-31	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of sleep habits and insomnia.	Sleep duration	2,278 European ancestry individuals	NA	18q22.3	FBXO15	rs2278331-A	NR	5E-6		0.14	[0.081-0.199] unit increase	Illumina [2380486] (imputed)	N
1132	chr18	71705191	71705192	rs1943940	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Mean arterial pressure (alcohol consumption interaction)	up to 6,882 individuals	NA	18q22.3	FBXO15	rs1943940-C	0.47	8E-7	(drinks/week)	0.106	[0.053-0.159] unit increase	Affymetrix [2500000] (imputed)	N
1132	chr18	71705191	71705192	rs1943940	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Diastolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	18q22.3	FBXO15	rs1943940-C	0.47	6E-7	(drinks/week)	0.1	[0.053-0.147] unit increase	Affymetrix [2500000] (imputed)	N
1133	chr18	71878516	71878517	rs9951925	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	18q22.3	AC090398.2	rs9951925-C	0.47	2E-6	(FG)			Illumina [588352]	N
1135	chr18	72174022	72174023	rs12971120	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	18q22.3	CNDP2	rs12971120-G	0.23	2E-7		0.099	[0.062-0.136] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
1138	chr18	72492688	72492689	rs9947276	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	18q22.3	NR	rs9947276-T	0.72	9E-6		1.39	[1.25-1.53]	Illumina [4058415] (imputed)	N
1140	chr18	72787045	72787046	rs17056274	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Estradiol levels	1,583 European ancestry female individuals	NA	18q22.3	ZNF407	rs17056274-G	0.01	4E-6		0.658	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
1141	chr18	72897160	72897161	rs9948784	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q22.3	NR	rs9948784-G	0.9873229	2E-6	(IGP41)	1.7711	[1.04-2.5] unit decrease	Illumina [~ 2500000] (imputed)	N
1141	chr18	72897160	72897161	rs9948784	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q22.3	NR	rs9948784-G	0.9873089	1E-6	(IGP1)	1.8106	[1.08-2.54] unit decrease	Illumina [~ 2500000] (imputed)	N
1142	chr18	73050333	73050334	rs62090893	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Anorexia nervosa	237 European ancestry female cases, 2,287 European ancestry female controls	NA	18q22.3	TSHZ1, C18orf62	rs62090893-G	0.921	3E-7		0.085	[0.052-0.118] unit decrease	Illumina [6150213] (imputed)	N
1142	chr18	73089376	73089377	rs17194666	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	18q22.3	C18orf62	rs17194666-C	0.33	5E-6		0.04	unit increase	Illumina [~ 6300000] (imputed)	N
1142	chr18	73098948	73098949	rs10514168	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	18q22.3	TSHZ1	rs10514168-C	0.854	3E-9		0.047	[0.031-0.062] unit decrease	Illumina [7428049] (imputed)	N
1143	chr18	73192445	73192446	rs1865721	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	18q23	C18orf62	rs1865721-?	NR	5E-6	(High intelligence)	3.9	[2.25-5.55] unit increase	Illumina [795637]	N
1145	chr18	73401649	73401650	rs9952762	26031901	Dahlin A	2015-06-02	Pharmacogenomics J	Genome-wide association study of leukotriene modifier response in asthma.	Response to zileuton treatment in asthma (FEV1 change interaction)	160 European and other ancestry zileuton-treated cases, 144 European and other ancestry placebo-controlled cases	149 European and other ancestry zileuton-treated cases, 73 European and other ancestry placebo-controlled cases	18q23	intergenic	rs9952762-?	NR	5E-7	(Dominant model)	0.64	unit increase	Illumina [542562]	N
1145	chr18	73462853	73462854	rs1943199	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	18q23	SMIM21	rs1943199-?		2E-8		1.94	[NR]	Illumina [452367]	N
1145	chr18	73498527	73498528	rs11150911	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	18q23	LOC339298	rs11150911-A	0.296	7E-6	(EA)	0.015	[0.0084-0.0218] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1145	chr18	73507568	73507569	rs12326088	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q23	intergenic	rs12326088-C	0.467	6E-6	(QUICKl)	0.04	[NR] unit increase	Illumina [899892]	N
1145	chr18	73527635	73527636	rs1017745	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	18q23	intergenic	rs1017745-?	NR	6E-6	(SF6)			Affymetrix [5476100] (imputed)	N
1146	chr18	73536710	73536711	rs9956878	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q23	intergenic	rs9956878-A	0.427	8E-6	(TC )	0.02	[NR] mg/dL increase	Illumina [899892]	N
1146	chr18	73536710	73536711	rs9956878	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q23	intergenic	rs9956878-A	0.427	2E-6	(LDL )	0.02	[NR] mg/dL increase	Illumina [899892]	N
1146	chr18	73549962	73549963	rs9959259	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q23	intergenic	rs9959259-A	0.207	9E-6	(Total glutathione )	0.02	[NR] umol/L increase	Illumina [899892]	N
1146	chr18	73605344	73605345	rs17058466	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	18q23	BC037384	rs17058466-G	0.013	1E-6	(HRTSE)	3.73	[2.22-5.24] unit decrease	Illumina [799713]	N
1147	chr18	73725199	73725200	rs7235840	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Hippocampal sclerosis	310 cases, 2,576 controls	NA	18q23	intergenic	rs7235840-T	0.1476	7E-6		0.5571	[0.31-0.8] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1150	chr18	74101940	74101941	rs4891159	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	18q23	ZNF516	rs4891159-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1150	chr18	74182974	74182975	rs6565887	23432519	O'Brien RP	2013-02-21	Clin Transplant	A genome-wide association study of recipient genotype and medium-term kidney allograft function.	Renal transplant outcome	263 European ancestry individuals		18q23	ZNF516	rs6565887-G	NR	4E-8	(Five-year creatinine)	0.2924	[NR] unit increase	Illumina [511662]	N
1150	chr18	74183561	74183562	rs7505290	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	18q23	ZNF516	rs7505290-T	NR	6E-6		4.54	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1152	chr18	74318609	74318610	rs13381277	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	18q23	ZNF516	rs13381277-?	NR	4E-6	(DMFS3)			Illumina [518997]	N
1153	chr18	74450639	74450640	rs7240382	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	18q23	ZNF236, MBP	rs7240382-A	0.7	2E-6	(DWRT-dr)	0.0931	[0.055-0.131] unit increase	Affymetrix, Illumina [NR] (imputed)	N
1153	chr18	74488279	74488280	rs2406342	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)	176 Japanese ancestry cases, 471 Japanese ancestry controls	NA	18q23	ZNF236	rs2406342-T	0.475	2E-6	(Dominant model)	1.697	[1.323-2.177]	Illumina [733202]	N
1155	chr18	74735134	74735135	rs11663697	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	18q23	NR	rs11663697-G	0.74	9E-6		13.71	[7.75-19.67] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
1156	chr18	74859043	74859044	rs1789110	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	18q23	MBP	rs1789110-?	0.375	4E-7		1.33	[1.19-1.49]	Affymetrix, Illumina [6036699] (imputed)	N
1156	chr18	74952757	74952758	rs8084125	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q23	GALR1	rs8084125-G	0.133	7E-6	(Sitting height )	0.03	[NR] cm increase	Illumina [899892]	N
1157	chr18	74987631	74987632	rs2717128	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	18q23	intergenic	rs2717128-G	0.14	1E-6		0.19	[0.11-0.27] unit decrease	Illumina [~ 318327]	N
1158	chr18	75110359	75110360	rs10469074	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	18q23	NR	rs10469074-?		2E-7	(PCB99)	0.29	[0.17-0.41] unit decrease	Illumina [8736858] (imputed)	N
1160	chr18	75373446	75373447	rs356150	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q23	BDP1P, LOC100132713	rs356150-C	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1160	chr18	75451076	75451077	rs11877305	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q23	BDP1P, LOC100132713	rs11877305-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
1161	chr18	75605398	75605399	rs9961113	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)	80 Japanese ancestry cases, 226 Japanese ancestry controls	NA	18q23	LOC100421527	rs9961113-C	0.403	1E-6	(Allelic model)	2.473	[1.706-3.584]	Illumina [733202]	N
1162	chr18	75638022	75638023	rs12455580	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q23	NR	rs12455580-C	0.662723558771149	2E-6	(IGP65)	0.1716	[0.1-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
1162	chr18	75638022	75638023	rs12455580	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	18q23	NR	rs12455580-C	0.662638724030317	7E-6	(IGP61)	0.1605	[0.091-0.23] unit increase	Illumina [~ 2500000] (imputed)	N
1162	chr18	75653522	75653523	rs11661856	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	18q23	intergenic	rs11661856-?	NR	1E-6	(Interleukin-2 soluble receptor-a)			Affymetrix [2543887] (imputed)	N
1164	chr18	75912921	75912922	rs4798896	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	18q23	intergenic	rs4798896-?	NR	4E-6	(Mood symptoms)	0.0917	[NR] unit increase	Affymetrix [696491]	N
1167	chr18	76409596	76409597	rs2002842	18668548	Julia A	2008-08-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.	Rheumatoid arthritis	400 European ancestry cases, 400 European ancestry controls	410 European ancestry cases, 394 European ancestry controls	18q23	SALL3	rs2002842-A	0.49	6E-6		1.61	[NR]	Illumina [299918]	N
1168	chr18	76415449	76415450	rs66591657	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	18q23	intergenic	rs66591657-?	NR	4E-6	(SF7)			Affymetrix [5476100] (imputed)	N
1168	chr18	76494591	76494592	rs4573996	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	18q23	intergenic	rs4573996-?	NR	9E-9	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
1168	chr18	76494591	76494592	rs4573996	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	18q23	intergenic	rs4573996-?	NR	3E-7	(SBP,CPD)			Affymetrix [2485435] (imputed)	N
1169	chr18	76591634	76591635	rs12967884	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	18q23	SALL3	rs12967884-A	0.89	7E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
1169	chr18	76657778	76657779	rs9951602	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	18q23	intergenic	rs9951602-A	0.189	9E-6	(IGF1 bound )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1169	chr18	76662954	76662955	rs28498503	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	18q23	SALL3	rs28498503-T	0.158	7E-6	(HRTSE)	1.03	[0.58-1.48] unit increase	Illumina [799713]	N
1170	chr18	76698026	76698027	rs113740863	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q23	intergenic	rs113740863-G	0.016	3E-6		4.82	[2.34-9.92]	Illumina [1556551]	N
1170	chr18	76773972	76773973	rs7241993	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	18q23	SALL3, ATP9B	rs7241993-G	0.7	2E-9		1.09	[1.05-1.12]	Illumina [~ 2600000] (imputed)	N
1173	chr18	77172315	77172316	rs116989867	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	18q23	NR	rs116989867-?	NR	2E-6	(Latino)	1.4136	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1174	chr18	77220615	77220616	rs7236492	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	18q23	NFATC1, TST	rs7236492-G	0.85	1E-8	(EA)	1.0835682		Affymetrix, Illumina [~ 9000000] (imputed)	N
1174	chr18	77220615	77220616	rs7236492	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	18q23	NFATC1, TST	rs7236492-A	0.85	9E-9	(EA)	1.1047964		Affymetrix, Illumina [~ 9000000] (imputed)	N
1174	chr18	77328614	77328615	rs75000611	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	18q23	NR	rs75000611-?	NR	7E-7	(Native Hawaiian)	0.995	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1175	chr18	77374320	77374321	rs9949526	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	18q23	LOC100127987, FLJ25715	rs9949526-A	0.001	1E-6		34.03	[3.52-329.29]	Illumina [1556551]	N
1175	chr18	77392378	77392379	rs7233060	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	18q23	CTDP1, CTD	rs7233060-?	NR	3E-7	(Positive symptoms)	0.1225	[NR] unit increase	Affymetrix [696491]	N
1176	chr18	77573547	77573548	rs4799088	20801717	Shatunov A	2010-10-01	Lancet Neurol	Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.	Amyotrophic lateral sclerosis	4,857 European ancestry cases, 8,987 European ancestry controls	NA	18q23	NR	rs4799088-?	NR	9E-6		1.15	[NR]	Illumina [227475]	N
1176	chr18	77575612	77575613	rs56775891	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	18q23	NR	rs56775891-T	NR	9E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
1177	chr18	77624478	77624479	rs62103177	24143882	Gelernter J	2013-10-19	Biol Psychiatry	Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways.	Opioid sensitivity	1,383 European ancestry cases, 996 European ancestry controls, 683 African American cases, 2,635 African American controls	2,116 European ancestry individuals, 4,496 African American individuals	18q23	KCNG2	rs62103177-?	0.06	4E-10	(AA)			Illumina [988306]	N
1177	chr18	77716170	77716171	rs11662586	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	18q23	NR	rs11662586-?	NR	9E-6		3.632	[2.1-5.17] unit decrease	Illumina [498648]	N
587	chr19	348742	348743	rs6510725	23144319	Lee Y	2012-11-08	Carcinogenesis	Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.	Non-small cell lung cancer	348 Korean ancestry cases	NA	19p13.3	MIER2	rs6510725-?	NR	3E-6	(Dominant model)			Affymetrix [271817]	N
588	chr19	406933	406934	rs12978500	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19p13.3	C2CD4C	rs12978500-C	0.274	1E-6	(Estradiol )	0.03	[NR] pg/mL increase	Illumina [899892]	N
592	chr19	950379	950380	rs2159128	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Vertical cup-disc ratio	7,360 European ancestry individuals	4,455 European ancestry individuals	19p13.3	ARID3A	rs2159128-G	0.13	3E-7		0.02	[0.01-0.03] mm2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
592	chr19	1046519	1046520	rs3764650	21460840	Hollingworth P	2011-04-03	Nat Genet	Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.	Alzheimer's disease	6,688 European ancestry cases, 13,685 European ancestry controls	13,182 European ancestry cases, 26,161 European ancestry controls	19p13.3	ABCA7	rs3764650-?	0.10	5E-17		1.23	[1.18-1.30]	Affymetrix, Illumina [496763]	N
593	chr19	1050419	1050420	rs115550680	23571587	Reitz C	2013-04-10	JAMA	Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E &#x000cf;&#x000b5;4,and the risk of late-onset Alzheimer disease in African Americans.	Alzheimer's disease (late onset)	1,968 African American cases, 3,928 African American controls		19p13.3	ABCA7, HMHA1, GRIN3B	rs115550680-G	0.07	2E-9		1.79	[1.47-2.12]	Illumina [17332474] (imputed)	N
593	chr19	1056491	1056492	rs3752246	21460841	Naj AC	2011-04-03	Nat Genet	Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	8,309 European ancestry cases, 7,366 European ancestry controls	10,523 European ancestry cases, 28,231 European ancestry controls	19p13.3	ABCA7	rs3752246-G	0.19	6E-7		1.15	[1.09-1.21]	Affymetrix, Illumina [2324889] (imputed)	N
593	chr19	1063442	1063443	rs4147929	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	19p13.3	ABCA7	rs4147929-A	0.19	1E-15		1.15	[1.11-1.19]	Illumina [7055881] (imputed)	N
593	chr19	1124030	1124031	rs2024092	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	19p13.3	NR	rs2024092-A	0.2162	1E-18	(EA)	1.1127257	[1.09-1.14]	Affymetrix, Illumina [~ 9000000] (imputed)	N
593	chr19	1124030	1124031	rs2024092	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	19p13.3	NR	rs2024092-A	0.2162	7E-25	(EA)	1.159123	[1.13-1.19]	Affymetrix, Illumina [~ 9000000] (imputed)	N
593	chr19	1124030	1124031	rs2024092	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	19p13.3	GPX4, HMHA1	rs2024092-A	0.215	8E-22		1.156	[1.112-1.201]	Affymetrix, Illumina [1230000] (imputed)	N
593	chr19	1124834	1124835	rs740495	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	19p13.3	GPX4, SBNO2	rs740495-G	0.247	8E-12		1.16	[1.10-1.21]	Affymetrix, Illumina [953241] (imputed)	N
594	chr19	1205888	1205889	rs147615524	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	19p13.3	NR	rs147615524-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
594	chr19	1207237	1207238	rs3764640	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis in Alzheimer's disease	1,039 European ancestry cases with psychosis, 610 European ancestry cases without psychosis, 260 European, African American and Native American ancestry cases with psychosis and 125 European, African American and Native American ancestry cases without psychosis from 264 families	NA	19p13.3	STK11	rs3764640-?	0.79	8E-6		1.4705882	[NR]	Illumina [1882172] (imputed)	N
595	chr19	1423198	1423199	rs4807927	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Word reading	6,649 European ancestry children and adolescents		19p13.3	DAZAP1	rs4807927-A	0.94	6E-6		0.147	[0.084-0.21] unit increase	Illumina [~ 2400000] (imputed)	N
595	chr19	1423198	1423199	rs4807927	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Reading and spelling	6,649 European ancestry children and adolescents	NA	19p13.3	DAZAP1	rs4807927-A	0.94	1E-6		0.207	[0.12-0.29] unit increase	Illumina [~ 2400000] (imputed)	N
597	chr19	1650133	1650134	rs1860661	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	19p13.3	TCF3	rs1860661-?	NR	4E-10		1.23	[1.16-1.32]	Affymetrix, Illumina [1004829] (imputed)	N
598	chr19	1803581	1803582	rs7253430	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19p13.3	ATP8B3	rs7253430-A	0.132	7E-6	(TSH )	0.02	[NR] uIU/mL increase	Illumina [899892]	N
598	chr19	1811602	1811603	rs7250872	19416921	Scott LJ	2009-05-05	Proc Natl Acad Sci U S A	Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.	Bipolar disorder	3,683 European ancestry cases, 14,507 European ancestry controls	NA	19p13.3	NR	rs7250872-T	0.69	2E-6		1.21	[1.12-1.31]	Affymetrix, Illumina [2366197] (imputed)	N
599	chr19	1937192	1937193	rs11672550	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19p13.3	CSNK1G2	rs11672550-T	0.577	3E-7	(EA)	0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
599	chr19	1937192	1937193	rs11672550	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19p13.3	CSNK1G2	rs11672550-T	0.575	2E-6	(EA, women)	0.024	[0.014-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
599	chr19	1937192	1937193	rs11672550	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19p13.3	CSNK1G2	rs11672550-T	0.575	1E-7		0.021	[0.013-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
601	chr19	2160528	2160529	rs3803915	24916648	Hirokawa M	2014-06-11	Eur J Hum Genet	A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.	Myocardial infarction	1,666 Japanese ancestry cases, 3,198 Japanese ancestry controls	11,412 Japanese ancestry cases, 28,397 Japanese ancestry controls	19p13.3	AP3D1, SF3A2, DOT1L	rs3803915-C	0.19	4E-9		1.12	[1.09-1.16]	Illumina [455781]	N
601	chr19	2160528	2160529	rs3803915	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	19p13.3	NR	rs3803915-C	0.89	5E-6	(females + males)	0.13	[NR] kg decrease	Illumina [318237]	N
601	chr19	2170953	2170954	rs12986413	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	19p13.3	DOT1L	rs12986413-T	0.45	3E-8		0.31	[0.21-0.46] cm increase	Affymetrix, Illumina [2260683] (imputed)	N
601	chr19	2176402	2176403	rs11880992	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	19p13.3	DOT1L	rs11880992-A	0.398	7E-28		0.033	[0.027-0.039] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
601	chr19	2176402	2176403	rs11880992	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	19p13.3	DOT1L	rs11880992-A	0.39	2E-12		1.15	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
601	chr19	2177192	2177193	rs12982744	22566624	Castano Betancourt MC	2012-05-07	Proc Natl Acad Sci U S A	Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.	Osteoarthritis	6,523 European ancestry individuals	4,442 European ancestry individuals	19p13.3	DOT1L	rs12982744-G	0.39	1E-11		0.09	[NR] mm increase	Illumina [2455290] (imputed)	N
601	chr19	2177192	2177193	rs12982744	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	19p13.3	DOT1L	rs12982744-C	0.6	3E-16		0.03	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
602	chr19	2275078	2275079	rs2523178	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	19p13.3	C19orf35	rs2523178-A	0.67	8E-6		0.055	[0.031-0.079] unit increase	Affymetrix, Illumina [3310998] (imputed)	N
603	chr19	2363318	2363319	rs62120679	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	19p13.3	SPPL2B	rs62120679-T	0.314	6E-7		1.097	[1.06-1.13]	Illumina [7893274] (imputed)	N
603	chr19	2410483	2410484	rs4806846	23229837	Aragam N	2012-12-11	J Mol Neurosci	TMPRSS9 and GRIN2B are associated with neuroticism: a genome-wide association study in a European sample.	Neuroticism	2,748 European ancestry cases	NA	19p13.3	TMPRSS9	rs4806846-A	0.14	8E-6				Perlegen [437547]	N
604	chr19	2522670	2522671	rs74407240	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	19p13.3	NR	rs74407240-?	NR	9E-6	(Native Hawaiian)	0.705	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
604	chr19	2547014	2547015	rs6510683	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	19p13.3	NR	rs6510683-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
605	chr19	2687650	2687651	rs57549656	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	19p13.3	NR	rs57549656-G	NR	5E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
605	chr19	2714169	2714170	rs185543003	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Ejection fraction in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	19p13.3	NR	rs185543003-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
607	chr19	2920704	2920705	rs8105265	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	19p13.3	intergenic	rs8105265-A	0.1173	4E-6	(Complete)	0.5203	[0.3-0.74] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
609	chr19	3150417	3150418	rs2302063	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	19p13.3	GNA15	rs2302063-?		7E-8	(MCRI)	0.29	[0.15-0.43] unit decrease	Illumina [693128]	N
609	chr19	3159768	3159769	rs11880198	20445134	Smith NL	2010-05-05	Circ Cardiovasc Genet	Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.	Heart failure	20,926 European ancestry individuals, 2,895 African ancestry individuals	NA	19p13.3	GNA15	rs11880198-?	0.13	6E-6	(EA)	1.23	[0.98-1.54]	Affymetrix, Illumina [2478304] (imputed)	N
609	chr19	3251218	3251219	rs17764205	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	19p13.3	NR	rs17764205-?	NR	5E-6		1.3597	[NR]	Affymetrix [722112]	N
610	chr19	3318509	3318510	rs11669592	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	19p13.3	intergenic	rs11669592-A	0.45	4E-6	(NAS)	1.31	[NR] unit decrease	Illumina [324623]	N
611	chr19	3428833	3428834	rs7507204	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	19p13.3	NFIC	rs7507204-C	0.24	4E-16		0.036	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
611	chr19	3434027	3434028	rs2074977	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	19p13.3	NFIC	rs2074977-A	0.637	2E-20		0.029	[0.023-0.035] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
611	chr19	3435544	3435545	rs72974768	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	QRS duration in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	19p13.3	NR	rs72974768-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
612	chr19	3613471	3613472	rs12977510	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19p13.3	C19orf29	rs12977510-A	0.046	6E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
613	chr19	3797099	3797100	rs12104221	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19p13.3	MATK	rs12104221-A	0.381	3E-8	(Total energy expenditure adj for weight )	0.05	[NR] kcal/d increase	Illumina [899892]	N
614	chr19	3927770	3927771	rs10412199	21782286	Walter S	2011-07-20	Neurobiol Aging	A genome-wide association study of aging.	Aging (time to event)	16,995 European ancestry individuals	NA	19p13.3	ATCAY	rs10412199-G	0.67	3E-6		1.1	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
615	chr19	3944239	3944240	rs10406174	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	19p13.3	DAPK3, ITGB1BP3	rs10406174-A	0.11	7E-6		1.24	[1.12-1.36]	Affymetrix, Illumina [~ 2500000] (imputed)	N
615	chr19	3944239	3944240	rs10406174	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	19p13.3	DAPK3, ITGB1BP3	rs10406174-A	0.11	6E-6	(EA)	1.24	[1.13-1.36]	Affymetrix, Illumina [~ 2500000] (imputed)	N
615	chr19	3970682	3970683	rs1654584	25226531	St Pourcain B	2014-09-16	Nat Commun	Common variation near ROBO2 is associated with expressive vocabulary in infancy.	Expressive vocabulary in infants	6,851 European ancestry 15-18-month-old children, 6,299 European ancestry 24-30-month-old children	2,038 European ancestry 15-18-month-old children, 4,520 European ancestry 24-30-month-old children	19p13.3	DAPK3	rs1654584-G	0.23	3E-7	(15-18 months)	0.091	[0.056-0.126] unit decrease	Illumina [2449665] (imputed)	N
620	chr19	4717671	4717672	rs12610495	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	19p13.3	DPP9	rs12610495-G	0.29	2E-12		1.29	[1.18-1.41]	Illumina [439828]	N
621	chr19	4768916	4768917	rs879564	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	19p13.3	NR	rs879564-A		1E-7		1.15	[1.09-1.22]	Affymetrix, Illumina [up to 3437411] (imputed)	N
621	chr19	4830627	4830628	rs6510827	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	19p13.3	TICAM1	rs6510827-T	0.41	9E-8		1.19	[NR]	Illumina [495821]	N
622	chr19	4883740	4883741	rs35967093	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	19p13.3	NR	rs35967093-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
622	chr19	4965403	4965404	rs34232444	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	19p13.3	NR	rs34232444-T	NR	9E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
623	chr19	5022603	5022604	rs263063	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	19p13.3	JMJD2B	rs263063-T	0.08	6E-6	(Age 20-81 years)	1.63	[1.32-2.01]	Affymetrix, Illumina [up to 17585496] (imputed)	N
623	chr19	5080646	5080647	rs11673509	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	19p13.3	KDM4B	rs11673509-T	0.08	6E-6	(Age 20-60 years)	1.66	[1.34-2.07]	Affymetrix, Illumina [up to 17585496] (imputed)	N
627	chr19	5582534	5582535	rs732505	21810271	Antoni G	2011-08-02	BMC Med Genet	Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.	vWF and FVIII levels	1,624 European ancestry individuals	NA	19p13.3	SAFB2	rs732505-A	0.09	9E-6	(vWF levels)	0.25	[0.13-0.37] IU/dL increase	Illumina [442728]	N
629	chr19	5834211	5834212	rs17271883	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	19p13.3	FUT6	rs17271883-G	0.38	5E-132	(CA19-9)	0.282	[0.20-0.37] U/ml increase	Affymetrix, Illumina [NR] (imputed)	N
629	chr19	5839745	5839746	rs3760776	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	19p13.3	FUT6	rs3760776-T	0.20	2E-56	(CA19-9)	0.169	[0.11-0.22] U/ml decrease	Affymetrix, Illumina [NR] (imputed)	N
629	chr19	5839745	5839746	rs3760776	22367966	Lin X	2012-02-24	Hum Mol Genet	Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.	Vitamin B12 levels	1,999 Han Chinese ancestry individuals	1,496 Chinese ancestry individuals	19p13.3	FUT6	rs3760776-?	NR	4E-13		49.78	[36.41-63.15] pg/ml increase	Illumina [1940245] (imputed)	N
629	chr19	5839745	5839746	rs3760776	21203500	Lauc G	2010-12-23	PLoS Genet	Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation.	N-glycan levels	2,559 European ancestry individuals	NA	19p13.3	NRTN, FUT6, FUT3	rs3760776-A	0.11	9E-10	(DG12)	0.3	[0.20-0.40] unit decrease	Illumina [~ 300000]	N
629	chr19	5839745	5839746	rs3760776	21203500	Lauc G	2010-12-23	PLoS Genet	Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation.	N-glycan levels	2,559 European ancestry individuals	NA	19p13.3	NRTN, FUT6, FUT3	rs3760776-A	0.11	4E-17	(DG9)	0.41	[0.31-0.51] unit decrease	Illumina [~ 300000]	N
629	chr19	5839745	5839746	rs3760776	21203500	Lauc G	2010-12-23	PLoS Genet	Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation.	N-glycan levels	2,559 European ancestry individuals	NA	19p13.3	NRTN, FUT6, FUT3	rs3760776-A	0.11	3E-12	(DG7)	0.34	[0.24-0.44] unit decrease	Illumina [~ 300000]	N
629	chr19	5839745	5839746	rs3760776	21203500	Lauc G	2010-12-23	PLoS Genet	Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation.	N-glycan levels	2,559 European ancestry individuals	NA	19p13.3	NRTN, FUT6, FUT3	rs3760776-A	0.11	1E-12	(FUC-A)	0.34	[0.24-0.44] unit decrease	Illumina [~ 300000]	N
629	chr19	5841355	5841356	rs3760775	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19p13.3	FUT6	rs3760775-?		8E-19				Illumina [709211] (imputed)	N
629	chr19	5841355	5841356	rs3760775	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	19p13.3	FUT6	rs3760775-T	0.33	3E-290	(CA19-9)	0.481	[0.44-0.52] U/ml decrease	Affymetrix, Illumina [NR] (imputed)	N
629	chr19	5841355	5841356	rs3760775	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	19p13.3	FUT6	rs3760775-T	0.33	1E-35	(CEA)	0.073	[0.048-0.098] ng/ml increase	Affymetrix, Illumina [NR] (imputed)	N
629	chr19	5851800	5851801	rs2306969	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19p13.3	FUT3	rs2306969-?	NR	3E-8				Illumina [709211] (imputed)	N
631	chr19	6080481	6080482	rs11880706	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	19p13.3	NR	rs11880706-?	NR	2E-6		1.4393	[NR]	Affymetrix [722112]	N
634	chr19	6475612	6475613	rs3745571	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide)	168 Japanese ancestry cases, 335 Japanese ancestry controls	NA	19p13.3	DENND1C	rs3745571-T	0.67	8E-6	(Dominant model)	1.73	[1.276-2.345]	Illumina [733202]	N
635	chr19	6668971	6668972	rs1077667	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	19p13.3	TNFSF14	rs1077667-G	NR	9E-14		1.16	[1.14-1.18]	Illumina [465434]	N
636	chr19	6690770	6690771	rs3745567	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	19p13.3	C3	rs3745567-T	0.06	2E-9	(Serum level of C3)	0.09	[0.070-0.110] g/L increase	Illumina [1940245] (imputed)	N
636	chr19	6718386	6718387	rs2230199	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	19p13.3	C3	rs2230199-C	0.2	1E-41		1.42	[1.37-1.47]	Affymetrix, Illumina [2442884] (imputed)	N
636	chr19	6718386	6718387	rs2230199	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	19p13.3	C3	rs2230199-C	.19	5E-13		1.83	[1.56-2.14]	Affymetrix, Illumina [6036699] (imputed)	N
636	chr19	6718386	6718387	rs2230199	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	19p13.3	C3	rs2230199-C	0.193	1E-12		1.61	[1.40-1.85]	Affymetrix, Illumina [6036699] (imputed)	N
636	chr19	6718386	6718387	rs2230199	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	19p13.3	C3	rs2230199-C	0.19	5E-29		1.53	[NR]	Affymetrix [6036699] (imputed)	N
636	chr19	6718386	6718387	rs2230199	20861866	Kopplin LJ	2010-09-23	Genes Immun	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Age-related macular degeneration	684 European ancestry cases, 188 European ancestry controls	1,896 European ancestry cases, 1,866 European ancestry controls	19p13.3	C3, R102G	rs2230199-C	NR	1E-8		1.44	[NR]	Affymetrix [> 361556] (imputed)	N
636	chr19	6718386	6718387	rs2230199	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	19p13.3	C3	rs2230199-?	NR	2E-8				Affymetrix [632932]	N
636	chr19	6718386	6718387	rs2230199	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	19p13.3	C3	rs2230199-C	0.163	1E-10		1.74	[1.47-2.06]	Illumina [~ 2500000] (imputed)	N
637	chr19	6887735	6887736	rs3826782	23459936	Divaris K	2013-03-04	Hum Mol Genet	Exploring the genetic basis of chronic periodontitis: a genome-wide association study.	Periodontitis	4,504 European ancestry individuals	656 European ancestry and African American individuals	19p13.3	EMR1, VAV1	rs3826782-?	NR	8E-7	(Moderate CPd)	2.01	[1.52-2.65]	Affymetrix [2135236] (imputed)	N
638	chr19	6992243	6992244	rs183353539	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	19p13.2	EMR4P	rs183353539-?	NR	8E-6		1.37	[0.76-1.98] unit decrease	Illumina [1075436] (imputed)	N
639	chr19	7166108	7166109	rs2059807	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	19p13.2	INSR	rs2059807-G	1.24	1E-8		1.14	[NR]	Affymetrix [NR] (imputed)	N
639	chr19	7184761	7184762	rs891088	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	19p13.2	INSR	rs891088-A	0.738	7E-18		0.029	[0.023-0.035] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
639	chr19	7184761	7184762	rs891088	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	19p13.2	INSR	rs891088-A	0.74	2E-12		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
639	chr19	7196564	7196565	rs2115386	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	19p13.2	INSR, LOC100131165, LOC100128567	rs2115386-C	0.55	3E-6		1.12	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
639	chr19	7199802	7199803	rs1035942	23263486	Kottgen A	2012-12-23	Nat Genet	Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.	Urate levels	49,825 European ancestry males, 60,522 European ancestry females	Up to 32,813 European ancestry individuals	19p13.2	INSR	rs1035942-A	0.27	1E-7		0.029	[0.017-0.041] mg/dl increase	Affymetrix, Illumina, Perlegen [2450547] (imputed)	N
640	chr19	7223847	7223848	rs4804416	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	19p13.2	INSR	rs4804416-T	0.569	3E-10	(TSH)	0.057	[0.039-0.075] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
640	chr19	7223847	7223848	rs4804416	23408906	Porcu E	2013-02-07	PLoS Genet	A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.	Thyroid hormone levels	up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males	NA	19p13.2	INSR	rs4804416-T	0.569	2E-6	(TSH - Females)	0.058	[0.034-0.082] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
640	chr19	7223847	7223848	rs4804416	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	19p13.2	INSR	rs4804416-G	0.423	5E-6		1.125	[1.07-1.18]	Illumina [870065]	N
640	chr19	7224430	7224431	rs7248104	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	19p13.2	INSR	rs7248104-A	0.42	5E-10		0.022	[NR] mg/dL decrease	NR [NR] (imputed)	N
641	chr19	7424527	7424528	rs6603109	22445761	Kurose K	2012-03-23	Psychiatry Res	Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.	Sexual dysfunction (SSRI/SNRI-related)	201 Japanese ancestry individuals	NA	19p13.2	AC119396.1	rs6603109-A	0.017	2E-6		5.13	[2.22-11.76]	Affymetrix [186320]	N
644	chr19	7734510	7734511	rs3745367	22843503	Qi Q	2012-07-26	Hum Mol Genet	Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.	Resistin levels	3,248 European ancestry individuals	659 European ancestry individuals	19p13.2	RETN	rs3745367-A	0.23	3E-6		0.04	[0.020-0.060] unit increase	Affymetrix, Illumina [2543887] (imputed)	N
644	chr19	7739176	7739177	rs1423096	24123702	Chung CM	2014-03-03	Diabetes Metab Res Rev	Common quantitative trait locus downstream of RETN gene identified by genome-wide association study is associated with risk of type 2 diabetes mellitus in Han Chinese: a Mendelian randomization effect.	Resistin levels	382 Han Chinese ancestry indiviudals	559 Han Chinese ancestry indiviudals	19p13.2	RETN	rs1423096-G	0.78	1E-7		0.322	[0.25-0.40] ug/mL increase	Illumina [NR]	N
645	chr19	7900561	7900562	rs652260	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	19p13.2	EVI5L, RETN	rs652260-T	0.54	1E-8		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
645	chr19	7909882	7909883	rs558718	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	19p13.2	EVI5L	rs558718-?	0.11	4E-6				Illumina [1212217]	N
648	chr19	8271720	8271721	rs7258249	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	19p13.2	LASS4	rs7258249-?	NR	1E-34	(levels)	0.0	[0.80-3.70] % increase	Illumina [NR] (imputed)	N
648	chr19	8271720	8271721	rs7258249	19798445	Hicks AA	2009-10-02	PLoS Genet	Genetic determinants of circulating sphingolipid concentrations in European populations.	Sphingolipid levels	4,110 European ancestry individuals	NA	19p13.2	LASS4	rs7258249-G	0.48	2E-27	(SM 18:1Mol%)	0.0	[0.0007-0.001] mol % increase	Illumina [318237]	N
648	chr19	8277712	8277713	rs12610250	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Sphingolipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	19p13.2	CERS4, CCL25	rs12610250-A	0.4744	1E-21	(Sphingomyeline C18:1)	0.0559	[0.044-0.067] unit decrease	Affymetrix, Illumina [up to 296619] (imputed)	N
648	chr19	8277712	8277713	rs12610250	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Sphingolipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	19p13.2	CCL25, CERS4	rs12610250-A	0.4741	1E-25	(Sphingomyeline C18:0)	0.0585	[0.048-0.069] unit decrease	Affymetrix, Illumina [up to 296619] (imputed)	N
648	chr19	8281634	8281635	rs2100944	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 24:0)	7,915 European ancestry individuals	NA	19p13.2	LASS4, CERS4	rs2100944-A	NR	3E-21		9.456	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
648	chr19	8281634	8281635	rs2100944	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	19p13.2	LASS4	rs2100944-A	NR	4E-26		10.567	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
648	chr19	8281634	8281635	rs2100944	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	19p13.2	LASS4	rs2100944-A	NR	3E-40		13.29	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
648	chr19	8285729	8285730	rs11666913	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 24:0)	7,915 European ancestry individuals	NA	19p13.2	LASS4, CERS4	rs11666913-C	NR	1E-17		8.547	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
648	chr19	8285729	8285730	rs11666913	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 22:0)	10,129 European ancestry individuals	NA	19p13.2	LASS4	rs11666913-C	NR	4E-16		8.163	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
648	chr19	8285729	8285730	rs11666913	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	19p13.2	LASS4	rs11666913-C	NR	2E-28		11.041	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
649	chr19	8429322	8429323	rs116843064	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	19p13.2	ANGPTL4	rs116843064-G	0.97	4E-15		0.183	[0.14-0.23] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
649	chr19	8429322	8429323	rs116843064	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	19p13.2	ANGPTL4	rs116843064-A	0.03	2E-14		0.178	[0.13-0.22] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
649	chr19	8433195	8433196	rs7255436	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	19p13.2	ANGPTL4	rs7255436-C	0.47	2E-8		0.032	[NR] unit decrease	NR [NR] (imputed)	N
649	chr19	8433195	8433196	rs7255436	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	19p13.2	ANGPTL4	rs7255436-C	0.47	3E-8		0.45	[0.29-0.61] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
649	chr19	8469737	8469738	rs2967605	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	19p13.2	ANGPTL4	rs2967605-T	0.16	1E-8		0.12	[0.04-0.20] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
650	chr19	8644030	8644031	rs4072910	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	19p13.2	ADAMTS10	rs4072910-C	0.442	1E-18		0.032	[0.024-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
650	chr19	8644030	8644031	rs4072910	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	19p13.2	ADAMTS10	rs4072910-C	0.46	4E-13		0.031	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
651	chr19	8671999	8672000	rs7249094	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	19p13.2	MYO1F, PRAM1, OR2Z1, ADAMTS10	rs7249094-G	0.59	1E-6		4.3	[2.54-6.06] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
652	chr19	8789380	8789381	rs2164983	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	19p13.2	ACTL9	rs2164983-A	0.15	7E-9		1.16	[1.10-1.22]	Affymetrix, Illumina [~ 2500000] (imputed)	N
660	chr19	9959013	9959014	rs2287838	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	19p13.2	PIN1	rs2287838-?	NR	1E-7	(EA)	2.21	[1.41-3.01] unit decrease	Affymetrix, Illumina [2033301]	N
661	chr19	9995866	9995867	rs889122	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	19p13.2	OLFM2, RDH8	rs889122-G	0.72	2E-13		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
661	chr19	10000321	10000322	rs1862471	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	19p13.2	OLFM2	rs1862471-G	0.47	2E-7		2.0	[1.22-2.78] week increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
662	chr19	10213153	10213154	rs8109578	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	19p13.2	ANGPTL6	rs8109578-?	0.08	4E-7	(TSH)			Illumina [496032]	N
662	chr19	10218029	10218030	rs1551570	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy	1,189 Chinese ancestry cases, 1,997 Chinese ancestry controls	2,693 European ancestry cases, 11,495 European ancestry controls	19p13.2	P2RY11, DNMT1	rs1551570-?	0.458	4E-10		1.32	[1.2-1.43]	Affymetrix [603382]	N
663	chr19	10310391	10310392	rs2116940	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	19p13.2	UBL5, ANGPTL6	rs2116940-G	0.19	3E-6	(AA-triglyceride response)	19.71	[11.4-28.02] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
664	chr19	10394791	10394792	rs1799969	21533024	Pare G	2011-04-21	PLoS Genet	Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.	Soluble ICAM-1	22,435 European ancestry female individuals	9,813 individuals	19p13.2	ICAM1	rs1799969-A	0.11	1E-120		24.9	[NR] ng/mL decrease	Illumina [334295]	N
664	chr19	10394791	10394792	rs1799969	18604267	Pare G	2008-07-04	PLoS Genet	Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.	Soluble ICAM-1	4,570 European ancestry female individuals	2,008 European ancestry female individuals	19p13.2	ICAM1	rs1799969-A	0.12	4E-47		28.19	[NR] umol/L decrease	Illumina [336108]	N
664	chr19	10395682	10395683	rs5498	21533024	Pare G	2011-04-21	PLoS Genet	Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.	Soluble ICAM-1	22,435 European ancestry female individuals	9,813 individuals	19p13.2	ICAM1	rs5498-G	0.43	6E-89		13.8	[NR] ng/mL increase	Illumina [334295]	N
664	chr19	10395682	10395683	rs5498	18604267	Pare G	2008-07-04	PLoS Genet	Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.	Soluble ICAM-1	4,570 European ancestry female individuals	2,008 European ancestry female individuals	19p13.2	ICAM1	rs5498-A	0.43	5E-25		13.22	[NR] umol/L increase	Illumina [336108]	N
664	chr19	10397237	10397238	rs281437	18604267	Pare G	2008-07-04	PLoS Genet	Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.	Soluble ICAM-1	4,570 European ancestry female individuals	2,008 European ancestry female individuals	19p13.2	ICAM1	rs281437-?	0.30	3E-10		10.1	[NR] umol/L increase	Illumina [336108]	N
664	chr19	10397402	10397403	rs3093030	20167578	Barbalic M	2010-02-18	Hum Mol Genet	Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.	Soluble levels of adhesion molecules	Up to 9,813 European ancestry individuals	NA	19p13.2	ICAM-1	rs3093030-T	NR	4E-23	(ICAM)	4.15	[3.33-4.97] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
664	chr19	10406430	10406431	rs12972990	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	19p13.2	ICAM5	rs12972990-?	NR	3E-7	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
664	chr19	10416443	10416444	rs73510898	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	19p13.2	ZGLP1, FDX1L	rs73510898-?	NR	8E-8	(Shared)			Affymetrix, Illumina [~ 5200000]	N
664	chr19	10463117	10463118	rs34536443	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	19p13.2	TYK2	rs34536443-G	0.95	5E-16	(EA)	1.46	[1.33-1.60]	Affymetrix, Illumina [up to 9739303] (imputed)	N
664	chr19	10469974	10469975	rs12720356	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	19p13.2	NR	rs12720356-C	0.08572	2E-11	(EA)	1.1656502	[1.12-1.21]	Affymetrix, Illumina [~ 9000000] (imputed)	N
664	chr19	10469974	10469975	rs12720356	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	19p13.2	NR	rs12720356-C	0.08572	4E-16	(EA)	1.1598983	[1.12-1.2]	Affymetrix, Illumina [~ 9000000] (imputed)	N
664	chr19	10469974	10469975	rs12720356	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	19p13.2	NR	rs12720356-C	0.08572	3E-11	(EA)	1.154103	[1.11-1.2]	Affymetrix, Illumina [~ 9000000] (imputed)	N
664	chr19	10469974	10469975	rs12720356	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	19p13.2	ICAM3, TYK2, ICAM1	rs12720356-G	0.084	1E-12		1.12	[1.06-1.19]	Affymetrix, Illumina [953241] (imputed)	N
664	chr19	10469974	10469975	rs12720356	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	19p13.2	TYK2	rs12720356-A	0.90	4E-11		1.4	[1.23-1.61]	Illumina [535475]	N
664	chr19	10472932	10472933	rs280519	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	19p13.2	TYK2	rs280519-A	0.47	4E-9		1.13	[1.05-1.21]	Illumina [535475]	N
664	chr19	10475651	10475652	rs2304256	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	19p13.2	TYK2	rs2304256-?	NR	1E-10	(T1D)			Affymetrix, Illumina [NR]	N
664	chr19	10475651	10475652	rs2304256	19966805	Wallace C	2009-12-06	Nat Genet	The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.	Type 1 diabetes	7,514 European ancestry cases, 9,045 European ancestry controls	4,840 European ancestry cases, 2,670 European ancestry controls, 5,766 European ancestry familial triads	19p13.2	TYK2	rs2304256-C	0.71	4E-9		1.16	[1.11-1.22]	Affymetrix, Illumina [~ 2600000] (imputed)	N
665	chr19	10512910	10512911	rs11879191	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	19p13.2	NR	rs11879191-A	0.8	5E-20	(EA)	1.1537393		Affymetrix, Illumina [~ 9000000] (imputed)	N
665	chr19	10512910	10512911	rs11879191	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	19p13.2	PPAN-P2RY11, TYK2, ICAM1	rs11879191-G	0.797	2E-18		1.136	[1.096-1.177]	Affymetrix, Illumina [1230000] (imputed)	N
665	chr19	10520063	10520064	rs8112449	25317112	Oh S	2014-09-30	Genomics Inform	Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.	Gastritis	977 Korean ancestry female cases, 3,622 Korean ancestry female controls, 804 Korean ancestry male cases, 3,335 Korean ancestry male controls	NA	19p13.2	intergenic	rs8112449-T	NR	2E-6	(Males)	1.304	[NR]	NR [349184]	N
665	chr19	10520063	10520064	rs8112449	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	19p13.2	CDC37, TYK2	rs8112449-G	NR	1E-6		1.08	[1.07-1.1]	Illumina [465434]	N
665	chr19	10525180	10525181	rs35164067	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	19p13.2	NR	rs35164067-?	NR	3E-20	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
665	chr19	10577842	10577843	rs1051738	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	19p13.2	PDE4A	rs1051738-?	NR	3E-14	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
666	chr19	10742169	10742170	rs2288904	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls	19p13.2	SLC44A2	rs2288904-G	0.785	3E-15		1.21	[1.16-1.28]	Affymetrix, Illumina [6751884] (imputed)	N
667	chr19	10765818	10765819	rs7250071	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	19p13.2	ILF3	rs7250071-T	0.63	2E-16		0.042	[0.03-0.054] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
667	chr19	10798903	10798904	rs2569507	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19p13.2	ILF3	rs2569507-G	0.406	7E-6	(TG )	0.02	[NR] mg/dL increase	Illumina [899892]	N
667	chr19	10801184	10801185	rs8102380	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	19p13.2	ILF3	rs8102380-A	0.686	8E-11		0.02	[0.014-0.026] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
667	chr19	10817655	10817656	rs9807841	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	19p13.2	QTRT1	rs9807841-?	NR	1E-10	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
667	chr19	10818091	10818092	rs892085	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	19p13.2	ILF3, QTRT1	rs892085-A	0.566	2E-6		1.16	[1.09-1.23]	Illumina [up to 4778154] (imputed)	N
667	chr19	10818091	10818092	rs892085	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	19p13.2	ILF3, CARM1	rs892085-A	NR	3E-7		1.172	[1.103-1.245]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
667	chr19	10838485	10838486	rs11671653	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	19p13.2	DNM2	rs11671653-A	0.11	9E-7		0.1075	[0.065-0.15] unit increase	Affymetrix [~ 2740000] (imputed)	N
667	chr19	10859507	10859508	rs12459943	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	19p13.2	DNM2	rs12459943-A	0.36	5E-11		0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
668	chr19	10990328	10990329	rs12710258	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	19p13.2	NR	rs12710258-?	NR	6E-7		0.1876	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
669	chr19	11092138	11092139	rs11669133	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	19p13.2	SMARCA4	rs11669133-A	0.06	1E-8		0.1671	[0.11-0.22] unit decrease	Affymetrix [~ 2740000] (imputed)	N
670	chr19	11163600	11163601	rs1122608	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or large artery stroke	2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls	NA	19p13.2	LDLR, SMARCA4	rs1122608-?		2E-11				Affymetrix, Illumina [up to 2500000] (imputed)	N
670	chr19	11163600	11163601	rs1122608	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease or ischemic stroke	12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls	NA	19p13.2	LDLR, SMARCA4	rs1122608-?		3E-12				Affymetrix, Illumina [up to 2500000] (imputed)	N
670	chr19	11163600	11163601	rs1122608	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	19p13.2	LDLR, SMARCA4	rs1122608-T	NR	3E-11		1.1364	[1.09-1.18]	Illumina [575000] (imputed)	N
670	chr19	11163600	11163601	rs1122608	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	19p13.2	LDLR	rs1122608-G	0.77	1E-9		1.14	[1.09-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
670	chr19	11163600	11163601	rs1122608	19198609	Kathiresan S	2009-02-08	Nat Genet	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Myocardial infarction (early onset)	2,967 European ancestry cases, 3,075 European ancestry controls	9,746 European ancestry cases, 9,746 European ancestry controls	19p13.2	LDLR	rs1122608-G	0.75	2E-9		1.15	[1.10-1.20]	Affymetrix [~ 2500000] (imputed)	N
670	chr19	11174624	11174625	rs8099996	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	19p13.2	SMARCA4	rs8099996-?	NR	3E-6	(Atopic dermatitis)			Affymetrix, Illumina [~ 5200000]	N
670	chr19	11188152	11188153	rs55791371	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	19p13.2	LDLR	rs55791371-?	NR	8E-17	(M-LDL-C/M-LDL-PL)	0.26	[0.2-0.32] unit decrease	Illumina [~ 7700000] (imputed)	N
670	chr19	11188898	11188899	rs112374545	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	19p13.2	LDLR	rs112374545-C	0.89	7E-142		0.25	[0.23-0.27] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
670	chr19	11188898	11188899	rs112374545	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	19p13.2	LDLR	rs112374545-C	0.89	2E-113		0.217	[0.2-0.24] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
670	chr19	11195029	11195030	rs11668477	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	LDL cholesterol	4,763 Northern Finnish founder individuals	NA	19p13.2	LDLR	rs11668477-G	0.18	2E-7		0.13	[0.08-0.17] mmol/l decrease	Illumina [329091]	N
670	chr19	11200007	11200008	rs17249141	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	LDL cholesterol	7,861 African American individuals, 3,425 Hispanic individuals	7,138 African American individuals	19p13.2	LDLR	rs17249141-T	0.0126	2E-17	(AA)	32.93	[NR] unit decrease	Affymetrix [NR]	N
670	chr19	11202305	11202306	rs6511720	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	up to 4,420 African ancestry individuals	19p13.2	LDLR	rs6511720-?	0.13	3E-115				NR [NR] (imputed)	N
670	chr19	11202305	11202306	rs6511720	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	19p13.2	LDLR	rs6511720-T	0.12	4E-262		0.221	[NR] unit decrease	NR [NR] (imputed)	N
670	chr19	11202305	11202306	rs6511720	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	19p13.2	LDLR	rs6511720-T	0.12	5E-202		0.185	[NR] unit decrease	NR [NR] (imputed)	N
670	chr19	11202305	11202306	rs6511720	24046328	Bradley DT	2013-09-17	Circ Cardiovasc Genet	A variant in LDLR is associated with abdominal aortic aneurysm.	Abdominal aortic aneurysm	1,755 European ancestry cases, 5,314 European ancestry controls	1,658 European ancestry cases, 28,962 European ancestry controls, 1,725 cases, 3,791 controls	19p13.2	LDLR	rs6511720-?	0.901	2E-10		1.32	[1.20-1.43]	Illumina [503892]	N
670	chr19	11202305	11202306	rs6511720	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	19p13.2	LDLR	rs6511720-?	0.10	4E-9				Illumina [~ 2000000] (imputed)	N
670	chr19	11202305	11202306	rs6511720	22003152	Grallert H	2011-10-14	Eur Heart J	Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.	Lipoprotein-associated phospholipase A2 activity and mass	12,126 European ancestry individuals, 1,538 individuals	NA	19p13.2	LDLR	rs6511720-T	0.10	3E-11	(Activity concentrations)	0.045	[0.031-0.059] unit decrease	Affymetrix, Illumina [2661766] (imputed)	N
670	chr19	11202305	11202306	rs6511720	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	19p13.2	LDLR	rs6511720-T	0.11	5E-11	(LDL)	0.148	[0.10-0.19] mmol/l decrease	Illumina [NR] (imputed)	N
670	chr19	11202305	11202306	rs6511720	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	19p13.2	LDLR	rs6511720-T	NR	1E-7	(Plaque)	0.1778	[0.11-0.25] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
670	chr19	11202305	11202306	rs6511720	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	LDL cholesterol	7,565 African American individuals	3,789 African American and Afro-Caribbean individuals	19p13.2	LDLR	rs6511720-T	0.144	7E-8		0.208	[0.13-0.28] unit decrease	Affymetrix [~ 2740000] (imputed)	N
670	chr19	11202305	11202306	rs6511720	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	19p13.2	LDLR	rs6511720-T	0.11	4E-117		6.99	[6.4-7.58] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
670	chr19	11202305	11202306	rs6511720	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	19p13.2	LDLR	rs6511720-T	0.11	7E-97		7.09	[6.42-7.76] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
670	chr19	11202305	11202306	rs6511720	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	19p13.2	LDLR	rs6511720-?	NR	5E-25	(APOB.assay, whole)	4.516	[NR] unit decrease	Illumina [335603]	N
670	chr19	11202305	11202306	rs6511720	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	19p13.2	LDLR	rs6511720-?	NR	3E-18	(APOB.assay, fasting)	4.492	[NR] unit decrease	Illumina [335603]	N
670	chr19	11202305	11202306	rs6511720	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	19p13.2	LDLR	rs6511720-?	NR	2E-31	(LDL-C.assay, whole)	6.532	[NR] unit decrease	Illumina [335603]	N
670	chr19	11202305	11202306	rs6511720	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	19p13.2	LDLR	rs6511720-?	NR	1E-25	(LDL-C.assay, fasting)	6.892	[NR] unit decrease	Illumina [335603]	N
670	chr19	11202305	11202306	rs6511720	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	19p13.2	LDLR	rs6511720-T	0.10	2E-26		0.26	[0.18-0.34] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
670	chr19	11202305	11202306	rs6511720	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	LDL cholesterol	2,758 European ancestry individuals	18,544 European ancestry individuals	19p13.2	LDLR	rs6511720-T	0.1	2E-51		0.26	[0.22-0.30] percentage SD decrease	Affymetrix [389878]	N
670	chr19	11202305	11202306	rs6511720	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	19p13.2	LDLR	rs6511720-G	0.90	4E-26		9.17	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
670	chr19	11210911	11210912	rs2228671	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	19p13.2	LDLR	rs2228671-G	0.88	4E-14		0.14	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
670	chr19	11210911	11210912	rs2228671	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	19p13.2	LDLR	rs2228671-G	0.88	9E-24		0.16	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
670	chr19	11227325	11227326	rs2738446	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	19p13.2	LDLR	rs2738446-C	0.14	2E-12	(LDL)	2.9507	[2.13-3.77] mg/dL increase	Affymetrix [~ 2200000] (imputed)	N
670	chr19	11238472	11238473	rs2738459	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	19p13.2	LDLR	rs2738459-C	0.48	7E-6		0.02	[0.01-0.03] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
670	chr19	11256175	11256176	rs4804146	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	19p13.2	SPC24	rs4804146-C	0.26	7E-6	(LDL)	0.053	mmol/L decrease	Affymetrix, Illumina [up to 2249917] (imputed)	N
671	chr19	11330941	11330942	rs17699030	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	19p13.2	NR	rs17699030-?	NR	8E-6		1.7062	[NR]	Affymetrix [722112]	N
671	chr19	11334294	11334295	rs4804155	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	HDL cholesterol	7,813 African American individuals	4,323 African American and Afro-Caribbean individuals	19p13.2	DOCK6	rs4804155-C	0.69	5E-6		0.0751	[0.043-0.107] unit increase	Affymetrix [~ 2740000] (imputed)	N
671	chr19	11342702	11342703	rs12979813	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	HDL cholesterol	7,917 African American individuals, 3,506 Hispanic individuals	7,138 African American individuals	19p13.2	LOC55908	rs12979813-T	0.495	2E-9	(AA)	0.0235	[NR] unit decrease	Affymetrix [NR]	N
671	chr19	11347492	11347493	rs737337	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	19p13.2	ANGPTL8	rs737337-C	0.11	5E-17		0.056	[NR] unit decrease	NR [NR] (imputed)	N
671	chr19	11347492	11347493	rs737337	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	19p13.2	DOCK6, LOC55908	rs737337-C	0.08	3E-9		0.64	[0.37-0.91] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
671	chr19	11350487	11350488	rs2278426	23505323	Weissglas-Volkov D	2013-03-15	J Med Genet	Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.	HDL cholesterol	1,122 Mexican ancestry hypertriglyceridemia cases, 1,118 Mexican ancestry controls	1,067 Mexican ancestry hypertriglyceridemia cases, 1,054 Mexican ancestry controls	19p13.2	TSPAN16, SPC24, RAB3D, KANK2, DOCK6, LOC55908	rs2278426-?	0.3	3E-9		0.14	[0.1-0.18] unit decrease	Illumina [1361436] (imputed)	N
673	chr19	11655009	11655010	rs11880637	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	19p13.2	NR	rs11880637-T	0.011251	6E-6	(IGP65)	3.9206	[2.22-5.62] unit decrease	Illumina [~ 2500000] (imputed)	N
673	chr19	11655009	11655010	rs11880637	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	19p13.2	NR	rs11880637-T	0.011251	6E-6	(IGP62)	3.8696	[2.2-5.54] unit decrease	Illumina [~ 2500000] (imputed)	N
673	chr19	11655009	11655010	rs11880637	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	19p13.2	NR	rs11880637-T	0.011251	6E-6	(IGP61)	3.9379	[2.24-5.64] unit decrease	Illumina [~ 2500000] (imputed)	N
674	chr19	11682494	11682495	rs7253363	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	19p13.2	ACP5	rs7253363-?	0.05	9E-6			[NR]	Illumina [551642]	N
674	chr19	11734625	11734626	rs187568415	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	19p13.2	NR	rs187568415-?	NR	2E-8	(Japanese)	0.9328	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
675	chr19	11849735	11849736	rs72986630	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	19p13.2	NR	rs72986630-T	NR	2E-8		1.16	[NR]	Illumina [7158791] (imputed)	N
677	chr19	12146369	12146370	rs3745672	20598377	Nischwitz S	2010-06-30	J Neuroimmunol	Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.	Multiple sclerosis	590 European ancestry cases, 825 European ancestry controls	NA	19p13.2	ZNF433	rs3745672-?	NR	1E-6		7.39	[3.32-16.47]	Illumina [~ 300000]	N
678	chr19	12225371	12225372	rs17638629	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	19p13.2	CTC-359D24.2	rs17638629-?	NR	7E-6	(TrailsA)			Illumina [up to 563855]	N
681	chr19	12691184	12691185	rs7247513	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	19p13.2	NR	rs7247513-?	NR	2E-6	(addtive)			Affymetrix [NR]	N
682	chr19	12752424	12752425	rs10411619	24383474	Manichaikul A	2014-01-02	Am J Respir Crit Care Med	Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.	Pulmonary emphysema	2,587 European ancestry individuals, 2,510 African American individuals, 2,113 Hispanic individuals, 704 Chinese ancestry individuals	6,023 European ancestry individuals	19p13.13	MAN2B1	rs10411619-T	0.956	1E-9	(Hispanic)	0.177	[0.12-0.23] unit decrease	Affymetrix [897981]	N
683	chr19	12932268	12932269	rs7255045	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	19p13.13	RTBDN	rs7255045-A	NR	2E-12		0.0	[0.002-0.004] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
684	chr19	13001546	13001547	rs11085824	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	19p13.13	GCDH	rs11085824-G	NR	1E-11		0.0	[0.003-0.005] pg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
684	chr19	13010519	13010520	rs8012	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19p13.13	GCDH	rs8012-A	0.44	6E-45	(glutaroyl carnitine)	0.037	[0.031-0.043] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
684	chr19	13024249	13024250	rs741702	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	19p13.13	SYCE2, CALR, FARSA	rs741702-A	0.35	8E-20	(EA, MCH)	0.006	[-0.00184-0.01384] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
684	chr19	13037733	13037734	rs62109865	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	19p13.13	NR	rs62109865-?	NR	8E-6				Affymetrix [5486770] (imputed)	N
684	chr19	13062426	13062427	rs45495792	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	19p13.13	DNASE2, KLF1, GCDH, SYCE2, FARSA, CALR, RAD23A, GADD45GIP1, DAND5, NFIX	rs45495792-G	0.1706	1E-6		2.11	[1.81-2.41]	Illumina [8809853] (imputed)	N
685	chr19	13179661	13179662	rs8113263	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19p13.13	NFIX	rs8113263-A	0.05	2E-6	(EA, men)	0.059	[0.034-0.083] kg/m2 increase	Affymetrix, Illumina [2550021]	N
686	chr19	13245967	13245968	rs10408126	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19p13.13	NACC1	rs10408126-A	0.034	4E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
687	chr19	13374912	13374913	rs4926244	25706626	Aung T	2015-02-23	Nat Genet	A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.	Exfoliation syndrome	1,484 Japanese ancestry cases, 1,188 Japanese ancestry controls	1,530 East Asian ancestry cases, 6,230 East Asian ancestry controls, 1,064 Southern Indian ancestry cases, 3,536 Southern Indian ancestry controls, 140 Hispanic cases, 233 Hispanic controls, 347 Middle Eastern ancestry cases, 1,108 Middle Eastern ancestry controls, 3,588 European ancestry cases, 9,012 European ancestry controls, 102 South African Black cases, 379 South African Black controls, 50 Uighur cases, 49 Uighur controls, 80 cases, 180 controls	19p13.13	CACNA1A	rs4926244-G	0.27	7E-6	(Asian)	1.14	[NR]	Illumina [581023]	N
687	chr19	13374912	13374913	rs4926244	25706626	Aung T	2015-02-23	Nat Genet	A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.	Exfoliation syndrome	1,484 Japanese ancestry cases, 1,188 Japanese ancestry controls	1,530 East Asian ancestry cases, 6,230 East Asian ancestry controls, 1,064 Southern Indian ancestry cases, 3,536 Southern Indian ancestry controls, 140 Hispanic cases, 233 Hispanic controls, 347 Middle Eastern ancestry cases, 1,108 Middle Eastern ancestry controls, 3,588 European ancestry cases, 9,012 European ancestry controls, 102 South African Black cases, 379 South African Black controls, 50 Uighur cases, 49 Uighur controls, 80 cases, 180 controls	19p13.13	CACNA1A	rs4926244-G	0.16	3E-11		1.16	[NR]	Illumina [581023]	N
692	chr19	14139920	14139921	rs12327666	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19p13.12	RLN3	rs12327666-A	0.031	9E-6	(Diet fat )	0.03	[NR] %energy increase	Illumina [899892]	N
694	chr19	14351573	14351574	rs4528684	20400778	Morrison AC	2010-04-17	Circ Cardiovasc Genet	Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.	Mortality in heart failure	1,645 European ancestry cases, 881 European ancestry controls, 281 African ancestry cases, 185 African ancestry controls	NA	19p13.12	LPHN1	rs4528684-T	0.094	1E-6	(EA)	1.42	[0.99-2.03]	Affymetrix [up to 2366858] (imputed)	N
697	chr19	14713492	14713493	rs7254215	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	19p13.12	NR	rs7254215-A		7E-6	(Modelling analysis)	1.09	[1.05-1.13]	NR [1252901] (imputed)	N
704	chr19	15677709	15677710	rs1273516	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	19p13.12	intergenic	rs1273516-?	0.39	9E-7	(CSJC , EA, RF-)	4.26	[NR] unit decrease	Illumina [534053]	N
704	chr19	15724202	15724203	rs3764563	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	19p13.12	CYP4F8	rs3764563-?	NR	3E-7	(MCP1-TNF-a pattern prefenofibrate)			Affymetrix [2543887] (imputed)	N
706	chr19	15990430	15990431	rs2108622	25411281	Dashti HS	2014-10-08	Am J Clin Nutr	Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations.	Circulating phylloquinone levels	2,138 European ancestry individuals	NA	19p13.12	CYP4F2	rs2108622-T	0.3	3E-7	(Model 2)	0.16	[0.10-0.22] unit increase	Affymetrix, Illumina [2543887] (imputed)	N
706	chr19	15990430	15990431	rs2108622	23281178	Hong MG	2013-03-01	Hum Mutat	A genome-wide assessment of variability in human serum metabolism.	Metabolite levels	214 European ancestry prostate cancer cases, 188 European ancestry controls	489 European ancestry prostate cancer cases	19p13.12	CYP4F2	rs2108622-T	NR	9E-24	(Glycerolphosphocholine)			Affymetrix [333722]	N
706	chr19	15990430	15990431	rs2108622	22437554	Major JM	2012-03-21	J Nutr	Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.	Response to Vitamin E supplementation	2,112 European ancestry individuals	NA	19p13.12	CYP4F2, LOC729645	rs2108622-T	0.19	2E-7	(alpha-TOH)	0.04	[0.020-0.060] mg/L increase	Illumina [549989]	N
706	chr19	15990430	15990431	rs2108622	21729881	Major JM	2011-07-05	Hum Mol Genet	Genome-wide association study identifies common variants associated with circulating vitamin E levels.	Vitamin E levels	2,402 European ancestry cases, 1612 European ancestry controls	475 European ancestry cases, 517 European ancestry controls, 1,416 cases, 1,359 controls	19p13.12	CYP4F2	rs2108622-T	0.21	1E-10		0.03	[0.01-0.05] unit increase	Illumina [NR]	N
706	chr19	15990430	15990431	rs2108622	20833655	Cha PC	2010-09-10	Hum Mol Genet	Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese.	Warfarin maintenance dose	807 Japanese ancestry low dose individuals, 701 Japanese ancestry high dose individuals	444 Japanese ancestry individuals	19p13.12	CYP4F2	rs2108622-T	NR	3E-8				Illumina [485227]	N
706	chr19	15990430	15990431	rs2108622	19578179	Teichert M	2009-07-04	Hum Mol Genet	A genome-wide association study of acenocoumarol maintenance dosage.	Acenocoumarol maintenance dosage	1,451 European ancestry individuals	287 individuals	19p13.12	CYP4F2	rs2108622-?	NR	3E-10				Illumina [~ 550000]	N
706	chr19	15990430	15990431	rs2108622	19300499	Takeuchi F	2009-03-20	PLoS Genet	A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.	Warfarin maintenance dose	1,053 European ancestry individuals	588 European ancestry individuals	19p13.12	CYP4F2	rs2108622-?	0.24	3E-10		0.21	[0.14-0.27] mg/week increase	Illumina [325997]	N
708	chr19	16185558	16185559	rs8109288	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	19p13.12	TPM4	rs8109288-G	0.097	5E-10	(Platelet Count)	8.72	[5.98-11.46] 10^9 L decrease	Affymetrix, Illumina [~ 2200000] (imputed)	N
708	chr19	16185558	16185559	rs8109288	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	19p13.12	TPM4	rs8109288-G	0.084	3E-9	(Mean Platelet Volume)	0.26	[0.18-0.34] fL increase	Affymetrix, Illumina [~ 2200000] (imputed)	N
708	chr19	16185558	16185559	rs8109288	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	19p13.12	TPM4	rs8109288-G	NR	3E-10		11.945	[8.24-15.65] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
708	chr19	16185558	16185559	rs8109288	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	19p13.12	TPM4	rs8109288-A	NR	1E-11		0.029	[0.021-0.037] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
710	chr19	16467758	16467759	rs875622	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	19p13.11	EPS15L1	rs875622-?	0.19	4E-6				Illumina [565404]	N
711	chr19	16548374	16548375	rs10411936	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	19p13.11	EPS15L1	rs10411936-A	0.30	2E-7		1.16	[NR]	Affymetrix, Illumina [2529394]	N
711	chr19	16548374	16548375	rs10411936	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	19p13.11	EPS15L1, C19orf44, CALR3	rs10411936-A		3E-12	(Lymphocytes)	0.0152	[0.011-0.020] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
715	chr19	17118432	17118433	rs11666377	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Brain lesion load	791 European ancestry cases, 883 European ancestry controls	NA	19p13.11	CPAMD8	rs11666377-?	0.14	7E-6			[NR]	Illumina [551642]	N
716	chr19	17232498	17232499	rs11667918	24647736	Chen P	2014-03-19	Diabetes	Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.	Glycated hemoglobin levels	17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals	up to 13,585 East Asian ancestry individuals	19p13.11	MYO9B	rs11667918-C	0.62	9E-12		0.06	[0.040-0.080] unit increase	Affymetrix, Illumina [up to 2400000] (imputed)	N
716	chr19	17283302	17283303	rs2279008	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	19p13.11	MYO9B	rs2279008-T	0.74	3E-8		0.025	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
716	chr19	17295001	17295002	rs188493101	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	19p13.11	NR	rs188493101-?	NR	1E-6		0.6195	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
717	chr19	17389703	17389704	rs8170	25581431	Kuchenbaecker KB	2015-01-12	Nat Genet	Identification of six new susceptibility loci for invasive epithelial ovarian cancer.	Epithelial ovarian cancer	4,368 European ancestry cases, 9,123 European ancestry controls,	2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry serous cases, 1,442 European ancestry non-serous cases, 21,722 European ancestry controls	19p13.11	BABAM1	rs8170-A	0.19	5E-14		1.18	[1.13-1.23]	Illumina [up to 10962898] (imputed)	N
717	chr19	17389703	17389704	rs8170	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Breast Cancer in BRCA1 mutation carriers	1,426 European ancestry cases, 1,301 European ancestry controls	6,031 European ancestry cases, 5,933 European ancestry controls	19p13.11	intergenic	rs8170-G	0.48	4E-13		1.19	[1.14-1.25]	Illumina [2568349] (imputed)	N
717	chr19	17389703	17389704	rs8170	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	19p13.11	MERIT40	rs8170-A	0.191	9E-13		1.15	[1.11-1.20]	Illumina [NR]	N
717	chr19	17389703	17389704	rs8170	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	19p13.11	NR	rs8170-?	0.19	3E-14	(Serious invasive)	1.19	[1.14-1.25]	Illumina [2508744] (imputed)	N
717	chr19	17389703	17389704	rs8170	23535730	Pharoah PD	2013-04-01	Nat Genet	GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.	Ovarian cancer	3,769 European ancestry cases, 4,396 European ancestry controls	211 East Asian ancestry cases, 972 East Asian ancestry controls, 39,674 European ancestry individuals, 106 Malaysian ancestry cases, 106 Malaysian ancestry controls	19p13.11	NR	rs8170-?	0.19	2E-7	(All invasive)	1.11	[1.07-1.15]	Illumina [2508744] (imputed)	N
717	chr19	17389703	17389704	rs8170	20852633	Bolton KL	2010-09-19	Nat Genet	Common variants at 19p13 are associated with susceptibility to ovarian cancer.	Ovarian cancer	1,768 European ancestry cases, 2,353 European ancestry controls	8,739 European ancestry cases, 10,831 European ancestry controls	19p13.11	C19orf62, MERIT40	rs8170-T	NR	4E-6	(Susceptibility)	1.12	[1.07-1.17]	Illumina [540573]	N
717	chr19	17389703	17389704	rs8170	20852631	Antoniou AC	2010-09-19	Nat Genet	A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.	Breast cancer	1,193 European ancestry cases, 1,190 European ancestry controls	2,974 European ancestry cases, 3,012 European ancestry controls	19p13.11	ANKLE1, C19orf62, ABHD8	rs8170-A	0.17	2E-9		1.26	[1.17-1.35]	Illumina [555616]	N
717	chr19	17392893	17392894	rs8100241	22976474	Siddiq A	2012-09-13	Hum Mol Genet	A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.	Breast cancer	3,666 European ancestry cases, 28,864 European ancestry controls, 1,004 African American cases, 2,744 African American controls	562 European ancestry cases, 6,410 European ancestry controls, 84 Japanese ancestry cases, 830 Japanese ancestry controls, 300 Latino cases, 1,164 Latino controls	19p13.11	NR	rs8100241-G	NR	4E-8		1.14	[NR]	Illumina [2608509] (imputed)	N
717	chr19	17394123	17394124	rs2363956	24325915	Purrington KS	2013-12-09	Carcinogenesis	Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.	Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative)	1,529 European ancestry cases, 3,399 European ancestry controls	2,148 European ancestry cases, 1,309 European ancestry controls	19p13.11	intergenic	rs2363956-C		2E-8		1.2195	[1.14-1.3]	Illumina [NR] (imputed)	N
717	chr19	17394123	17394124	rs2363956	20852633	Bolton KL	2010-09-19	Nat Genet	Common variants at 19p13 are associated with susceptibility to ovarian cancer.	Ovarian cancer	1,768 European ancestry cases, 2,353 European ancestry controls	8,739 European ancestry cases, 10,831 European ancestry controls	19p13.11	ANKLE1	rs2363956-T	NR	1E-7	(Susceptibility)	1.1	[1.06-1.15]	Illumina [540573]	N
717	chr19	17420288	17420289	rs2303745	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	19p13.11	DDA1	rs2303745-A	0.39	1E-6		1.07		Illumina [2100739] (imputed)	N
718	chr19	17434092	17434093	rs77331626	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	19p13.11	ANKRD55	rs77331626-G	0.71	7E-24		1.21	[1.17-1.26]	Affymetrix, Illumina [up to 9739303] (imputed)	N
719	chr19	17590280	17590281	rs11666579	20360315	Uher R	2010-04-01	Am J Psychiatry	Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.	Response to antidepressants	706 European ancestry individuals	NA	19p13.11	SLC27A1	rs11666579-?	0.48	3E-6	(genotype x drug)	14.4	[NR] unit increase	Illumina [539391]	N
720	chr19	17752688	17752689	rs12608932	24931836	Diekstra FP	2014-06-27	Ann Neurol	C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.	Frontotemporal dementia	435 European ancestry cases, 1,414 European ancestry controls	NA	19p13.11	UNC13A	rs12608932-C	0.35	7E-6		1.46	[NR]	Illumina [~ 1400000] (imputed)	N
720	chr19	17752688	17752689	rs12608932	24931836	Diekstra FP	2014-06-27	Ann Neurol	C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.	Amyotrophic lateral sclerosis	4,377 European ancestry cases, 13,017 European ancestry controls	NA	19p13.11	UNC13A	rs12608932-C	0.35	2E-8		1.18	[NR]	Illumina [~ 1400000] (imputed)	N
720	chr19	17752688	17752689	rs12608932	24256812	Fogh I	2013-11-20	Hum Mol Genet	A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis (sporadic)	6,100 European ancestry cases, 7,125 European ancestry controls	2,074 European ancestry cases, 2,556 European ancestry controls	19p13.11	UNC13A	rs12608932-?	0.335	6E-6				Illumina [~ 7000000] (imputed)	N
720	chr19	17752688	17752689	rs12608932	22959728	Ahmeti KB	2012-09-05	Neurobiol Aging	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.	Amyotrophic lateral sclerosis	4,243 European ancestry cases, 5,112 European ancestry controls	NA	19p13.11	UNC13A	rs12608932-C	0.34	5E-8	(Meta)	1.37	[1.21-1.56]	Illumina [254145]	N
720	chr19	17752688	17752689	rs12608932	19734901	van Es MA	2009-09-06	Nat Genet	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	2,323 European ancestry cases, 9,013 European ancestry controls	2,532 European ancestry cases, 5,940 European ancestry controls	19p13.11	UNC13A	rs12608932-?	0.34	3E-14		1.25	[NR]	Illumina [292768]	N
720	chr19	17762889	17762890	rs10416963	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19p13.11	UNC13A	rs10416963-G	0.487	8E-6	(RQmax)	0.04	[NR] increase	Illumina [899892]	N
721	chr19	17902333	17902334	rs265548	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	19p13.11	B3GNT3	rs265548-C	0.26	1E-13	(CA19-9)	0.072	[0.029-0.115] U/ml decrease	Affymetrix, Illumina [NR] (imputed)	N
723	chr19	18132539	18132540	rs12984174	23541324	Li X	2013-03-27	J Allergy Clin Immunol	Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.	Pulmonary function in asthmatics	1,544 European ancestry individuals		19p13.11	IL12RB1	rs12984174-T	0.87	9E-6	(ppFVC)	0.26	[NR] unit decrease	Illumina [369771]	N
724	chr19	18304699	18304700	rs874628	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	19p13.11	MPV17L2	rs874628-A	NR	1E-8		1.11	[1.09-1.12]	Illumina [465434]	N
725	chr19	18389134	18389135	rs12608504	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19p13.11	JUND	rs12608504-A	0.355	9E-10	(EA)	0.0219	[0.015-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
725	chr19	18389134	18389135	rs12608504	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19p13.11	JUND	rs12608504-A	0.3547	5E-10		0.0218	[0.015-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
725	chr19	18389134	18389135	rs12608504	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19p13.11	JUND	rs12608504-A	0.354	1E-7	(EA, men)	0.0275	[0.017-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
725	chr19	18389134	18389135	rs12608504	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19p13.11	JUND	rs12608504-A	0.3532	3E-7	(men)	0.0258	[0.016-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
725	chr19	18454824	18454825	rs17724992	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19p13.11	PGPEP1	rs17724992-A	0.748	1E-6	(EA, men)	0.023	[0.014-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
725	chr19	18454824	18454825	rs17724992	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19p13.11	PGPEP1	rs17724992-A	0.746	3E-8	(EA)	0.019	[0.013-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
725	chr19	18454824	18454825	rs17724992	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19p13.11	PGPEP1	rs17724992-A	0.743	8E-9		0.02	[0.013-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
725	chr19	18467885	18467886	rs7248363	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	19p13.11	NR	rs7248363-?	NR	1E-6		1.296	[NR]	Affymetrix [722112]	N
726	chr19	18487666	18487667	rs78015699	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	19p13.11	PGPEP1	rs78015699-T	0.02	7E-6	(Age 20-60 years)	0.2155	[0.12-0.31] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
726	chr19	18567038	18567039	rs731945	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	19p13.11	intergenic	rs731945-T	0.3154	6E-6		0.0582	[0.033-0.083] unit increase	Illumina [2400000] (imputed)	N
726	chr19	18571140	18571141	rs4808801	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	19p13.11	SSBP4, ISYNA1, ELL	rs4808801-A	0.65	5E-15		1.08	[1.05-1.1]	Affymetrix, Illumina [~ 2600000] (imputed)	N
727	chr19	18618866	18618867	rs4808136	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19p13.11	ISYNA1	rs4808136-A	0.34	5E-14	(myo-inositol)	0.013	[0.0091-0.0169] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
728	chr19	18747604	18747605	rs3764628	22419666	Shi M	2012-03-14	Am J Med Genet A	Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.	Orofacial clefts	1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads	NA	19p13.11	intergenic	rs3764628-?	0.12	4E-6	(CL)	1.89	[2.5-1.43]	Illumina [NR]	N
728	chr19	18803171	18803172	rs10419226	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Esophageal adenocarcinoma	1,516 European ancestry cases, 3,209 European ancestry controls	874 European ancestry cases, 6,911 European ancestry controls	19p13.11	CRTC1	rs10419226-A	0.456	8E-7		1.19	[1.11-1.27]	Illumina [922031]	N
728	chr19	18803171	18803172	rs10419226	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	19p13.11	CRTC1	rs10419226-A	0.456	4E-10		1.18	[1.12-1.24]	Illumina [922031]	N
728	chr19	18803171	18803172	rs10419226	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Barrett's esophagus	2,416 European ancestry cases, 3,206 European ancestry controls	759 European ancestry cases, 6,911 European ancestry controls	19p13.11	CRTC1	rs10419226-A	0.456	6E-8		1.19	[1.12-1.26]	Illumina [922031]	N
728	chr19	18817902	18817903	rs10423674	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	19p13.11	CRTC1	rs10423674-A	0.34	9E-12		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
728	chr19	18817902	18817903	rs10423674	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	19p13.11	CRTC1	rs10423674-A	0.35	6E-9		2.3	[1.52-3.08] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
729	chr19	18892727	18892728	rs10038	25057126	Ramos YF	2014-07-23	J Med Genet	Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.	Osteoarthritis biomarkers	up to 4,654 European ancestry individuals	964 European ancestry individuals	19p13.11	COMP	rs10038-A	0.334	7E-6	(sCOMP)	0.11	[NR] unit increase	Illumina [up to 1961964] (imputed)	N
732	chr19	19276358	19276359	rs7249142	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	19p13.11	NR	rs7249142-G	0.619273395452519	9E-6	(IGP30)	0.1523	[0.085-0.219] unit increase	Illumina [~ 2500000] (imputed)	N
732	chr19	19361734	19361735	rs1064395	21353194	Cichon S	2011-02-23	Am J Hum Genet	Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder.	Bipolar disorder	682 European ancestry cases, 1,300 European ancestry controls	7,759 European ancestry cases, 34,062 European ancestry controls	19p13.11	NCAN	rs1064395-A	0.16	2E-9		1.17	[NR]	Illumina [511978]	N
732	chr19	19379548	19379549	rs58542926	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	19p13.11	CILP2	rs58542926-C	0.92	2E-25		0.116	[0.094-0.138] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
732	chr19	19379548	19379549	rs58542926	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	19p13.11	CILP2	rs58542926-C	0.92	8E-29		0.122	[0.1-0.14] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
733	chr19	19407717	19407718	rs10401969	25246029	DiStefano JK	2014-09-23	Acta Diabetol	Genome-wide analysis of hepatic lipid content in extreme obesity.	Hepatic lipid content in extreme obesity	1,868 European ancestry cases	NA	19p13.11	SUGP1	rs10401969-?	NR	3E-7				Illumina [605718]	N
733	chr19	19407717	19407718	rs10401969	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	19p13.11	CILP2	rs10401969-C	0.09	1E-69		0.121	[NR] mg/dL decrease	NR [NR] (imputed)	N
733	chr19	19407717	19407718	rs10401969	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	19p13.11	CILP2	rs10401969-C	0.09	3E-54		0.118	[NR] unit decrease	NR [NR] (imputed)	N
733	chr19	19407717	19407718	rs10401969	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	19p13.11	CILP2	rs10401969-C	0.09	4E-77		0.137	[NR] unit decrease	NR [NR] (imputed)	N
733	chr19	19407717	19407718	rs10401969	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	19p13.11	SF4, CILP2	rs10401969-T	0.91	1E-11		0.05	[0.04-0.06] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
733	chr19	19407717	19407718	rs10401969	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	19p13.11	CSPG3, CILP2, PBX4	rs10401969-C	0.07	2E-29		7.83	[6.22-9.44] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
733	chr19	19407717	19407718	rs10401969	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	19p13.11	CSPG3, CILP2, PBX4	rs10401969-C	0.07	7E-22		3.11	[2.37-3.85] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
733	chr19	19407717	19407718	rs10401969	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	19p13.11	CSPG3, CILP2, PBX4	rs10401969-C	0.07	3E-38		4.74	[3.92-5.56] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
733	chr19	19407717	19407718	rs10401969	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	19p13.11	NCAN, CILP2, PBX4	rs10401969-C	0.06	2E-8		0.05	[-0.03-0.13] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
733	chr19	19443985	19443986	rs2011503	24618891	Muhleisen	2014-03-11	Nat Commun	Genome-wide association study reveals two new risk loci for bipolar disorder.	Bipolar disorder	9,747 European ancestry cases, 14,278 European ancestry controls	NA	19p13.11	NCAN	rs2011503-?	NR	9E-8		1.15	[NR]	Illumina [2267487] (imputed)	N
733	chr19	19460540	19460541	rs73001065	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	19p13.11	CILP2	rs73001065-G	0.93	3E-23		0.114	[0.09-0.138] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
733	chr19	19473444	19473445	rs2905424	23974872	Ripke S	2013-08-25	Nat Genet	Genome-wide association analysis identifies 13 new risk loci for schizophrenia.	Schizophrenia	5,001 European ancestry cases, 6,243 European ancestry controls, 8,832 cases, 12,067 controls	4,801 European ancestry cases, 4,741 European ancestry controls, 2,612 European and unknown ancestry cases, 15,021 European and unknown ancestry controls, 581 trios	19p13.11	CILP2, PBX4, MAU2, GMIP, LPAR2, MIR640, NCAN, GATAD2A, HAPLN4, YJEFN3, NDUFA13, SUGP1, TM6SF2, TSSK6	rs2905424-T	0.348	3E-9		1.092	[1.06-1.12]	Affymetrix, Illumina [9871789]	N
733	chr19	19478021	19478022	rs2905426	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	19p13.11	NR	rs2905426-G	NR	5E-9		1.0638298	[NR]	Illumina [7158791] (imputed)	N
733	chr19	19478021	19478022	rs2905426	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	19p13.11	CILP2, GATAD2A, HAPLN4, MAU2, NCAN, NDUFA13, PBX4, SUGP1, TM6SF2, TSSK6	rs2905426-G	0.372	4E-10		1.0706638	[1.05-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
734	chr19	19591065	19591066	rs10401193	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	19p13.11	GATAD2A	rs10401193-A	0.819	9E-14		0.028	[0.02-0.036] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
734	chr19	19658471	19658472	rs16996148	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	LDL cholesterol	2,758 European ancestry individuals	18,544 European ancestry individuals	19p13.11	CILP2, PBX4	rs16996148-T	0.1	3E-8		0.1	[0.06-0.14] percentage SD decrease	Affymetrix [389878]	N
734	chr19	19658471	19658472	rs16996148	18193044	Kathiresan S	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	Triglycerides	2,758 individuals	18,544 individuals	19p13.11	CILP2, PBX4	rs16996148-T	0.10	4E-9		0.1	[0.06-0.14] percentage SD decrease	Affymetrix [389878]	N
734	chr19	19658471	19658472	rs16996148	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	Triglycerides	8,684 European ancestry individuals	9,741 European ancestry individuals	19p13.11	CILP2, NCAN	rs16996148-G	0.92	3E-9		6.1	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
734	chr19	19658471	19658472	rs16996148	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	19p13.11	NCAN, CILP2	rs16996148-G	0.89	3E-9		3.32	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
735	chr19	19662219	19662220	rs17216525	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	19p13.11	NCAN, CILP2, PBX4	rs17216525-T	0.07	4E-11		0.11	[0.05-0.17] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
735	chr19	19721721	19721722	rs12610185	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19p13.11	PBX4	rs12610185-A	0.053	4E-6	(TG )	0.03	[NR] mg/dL increase	Illumina [899892]	N
735	chr19	19789527	19789528	rs2304130	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19p13.11	ZNF101	rs2304130-A	0.914	5E-6	(EA)	0.027	[0.015-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
735	chr19	19789527	19789528	rs2304130	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19p13.11	ZNF101	rs2304130-A	0.906	5E-7		0.028	[0.017-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
735	chr19	19789527	19789528	rs2304130	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	19p13.11	LPAR2	rs2304130-?	NR	6E-9	(proportions)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
735	chr19	19789527	19789528	rs2304130	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Triglycerides	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	19p13.11	CILP2, ZNF101	rs2304130-G	0.09	4E-8		0.07	[0.04-0.10] unit decrease	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
735	chr19	19789527	19789528	rs2304130	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Triglycerides	17,100 European ancestry individuals, 715 Orcadian individuals	NA	19p13.11	NCAN	rs2304130-G	0.07	3E-6		0.1	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
735	chr19	19789527	19789528	rs2304130	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	19p13.11	NCAN	rs2304130-G	0.07	3E-6		0.12	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
735	chr19	19789527	19789528	rs2304130	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	19p13.11	NCAN	rs2304130-G	0.07	2E-15		0.15	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
736	chr19	19829100	19829101	rs2163813	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Toenail selenium levels	4,162 European ancestry individuals	NA	19p13.11	ZNF14, ZNF101, ATP13A1	rs2163813-T	0.74	5E-6		0.018	[0.01-0.026] unit decrease	Affymetrix, Illumina [2378986] (imputed)	N
737	chr19	20036175	20036176	rs10411195	19247474	Caporaso N	2009-02-27	PLoS One	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Smoking behavior	2,617 European ancestry smokers, 1,725 European ancestry controls	NA	19p12	ZNF505	rs10411195-?	0.03	6E-6	(CPD)	0.21	[NR] cigarettes per day decrease	Illumina [~ 518000]	N
738	chr19	20059492	20059493	rs10405744	25944848	Athanasiu L	2015-05-05	J Psychopharmacol	Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs.	Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio)	Up to 290 European ancestry cases	NA	19p12	intergenic	rs10405744-A	NR	2E-7		0.5736	[NR] unit decrease	Affymetrix [686595]	N
740	chr19	20329110	20329111	rs1654260	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)	184 Japanese ancestry cases, 459 Japanese ancestry controls	NA	19p12	LOC100421704	rs1654260-A	0.488	8E-6	(Allelic model)	1.749	[1.365-2.24]	Illumina [733202]	N
742	chr19	20635290	20635291	rs117403524	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	19p12	NR	rs117403524-?	NR	5E-6	(Native Hawaiian)	1.3757	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
744	chr19	20846270	20846271	rs4808260	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	19p12	ZNF626	rs4808260-C	0.3	7E-6	(AA-glucose response)	3.71	[2.08-5.34] mg/dL decrease	Affymetrix, Illumina [> 2000000] (imputed)	N
750	chr19	21666209	21666210	rs2562456	19207018	Kim H	2009-02-01	Pharmacogenomics	Genome-wide association study of acute post-surgical pain in humans.	Pain	112 European ancestry individuals	NA	19p12	LOC400680, ZNF429	rs2562456-?	NR	2E-10	(onset time of analgesia)			Affymetrix [374975]	N
752	chr19	21956135	21956136	rs8101143	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	19p12	intergenic	rs8101143-?	NR	2E-7				NR [~ 2000000]	N
753	chr19	22135269	22135270	rs2262909	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	19p12	NR	rs2262909-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
754	chr19	22215456	22215457	rs8105895	25378290	McQueen MB	2014-11-07	Behav Genet	The National Longitudinal Study of Adolescent to Adult Health (Add Health) Sibling Pairs Genome-Wide Data.	Body mass index (change over time)	917 European ancestry individuals, 677 African American individuals, 209 Hispanic individuals, 73 Asian ancestry individuals, 8 Native American ancestry individuals, 2 individuals	NA	19p12	ZNF208, ZNF257	rs8105895-T	0.14	3E-6		1.26	[0.73-1.79] unit increase	Illumina [717411]	N
755	chr19	22359439	22359440	rs412658	23001564	Mangino M	2012-09-25	Hum Mol Genet	Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.	Telomere length	9,190 European ancestry individuals	2,226 individuals	19p12	ZNF676	rs412658-T	0.3564	1E-8		0.0497	[0.032-0.067] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
756	chr19	22515250	22515251	rs1975174	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	19p12	ZNF676	rs1975174-T	NR	2E-6		0.05	[0.03-0.07] kb increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
757	chr19	22554853	22554854	rs1865075	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	19p12	LOC342994	rs1865075-?	NR	6E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
757	chr19	22608373	22608374	rs10404998	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	19p12	ZNF98	rs10404998-?	NR	3E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
757	chr19	22614121	22614122	rs931608	23064961	Shaffer JR	2012-10-11	J Dent Res	GWAS of dental caries patterns in the permanent dentition.	Dental caries	920 European ancestry individuals	NA	19p12	ZNF98	rs931608-?	NR	1E-6	(DMFS5mand)			Illumina [518997]	N
757	chr19	22614121	22614122	rs931608	22331829	Chasman DI	2012-02-13	Circ Cardiovasc Genet	Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.	Response to statin therapy (LDL-C)	6,989 European ancestry individuals	NA	19p12	LOC342994, ZNF98	rs931608-?	NR	3E-7	(absolute LDL-C reduction)	4.2	[2.44-5.96] mg/dL increase	Illumina [814418]	N
758	chr19	22741674	22741675	rs8111998	21979947	Li X	2011-10-06	Hum Mol Genet	A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.	Corneal structure	222 European ancestry cases, 3,324 European ancestry controls	304 European ancestry cases, 518 European ancestry controls, 146 European ancestry cases and 161 European ancestry controls from 70 families	19p12	intergenic	rs8111998-?	NR	8E-7		1.71		Illumina [~ 290000]	N
758	chr19	22794685	22794686	rs11671104	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	19p12	VN1R86P, ZNF492	rs11671104-?	0.89-0.94	4E-6	(Fruit)	1.25	[1.13-1.37]	Affymetrix, Illumina [> 2700000] (imputed)	N
760	chr19	23056345	23056346	rs7246967	23897914	Wang H	2013-07-29	Pediatrics	A genome-wide association study (GWAS) for bronchopulmonary dysplasia.	Bronchopulmonary dysplasia	117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn controls, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls	371 newborn cases, 424 newborn controls	19p12	LOC646864, ZNF728	rs7246967-C	0.16	4E-6	(Dominant model)	1.4	[NR]	Illumina [1795103]	N
769	chr19	24149544	24149545	rs2195987	25877299	Kristiansen W	2015-04-15	Hum Mol Genet	Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.	Testicular germ cell tumor	1,326 European ancestry cases, 6,687 European ancestry controls	710 European ancestry case-parent triads, 289 European ancestry cases, 290 European ancestry controls	19p12	intergenic	rs2195987-T	0.782	3E-8		1.32	[1.19-1.45]	Illumina [610240]	N
769	chr19	24222785	24222786	rs7260598	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	19p12	ZNF254	rs7260598-?	NR	6E-6				Affymetrix, Illumina [~ 1300000]	N
770	chr19	24355492	24355493	rs11668609	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	19p12	ZNF254	rs11668609-?	NR	3E-6				Affymetrix, Illumina [~ 1300000]	N
805	chr19	28866595	28866596	rs995834	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)	150 Japanese ancestry cases, 166 Japanese ancestry controls	NA	19q12	LOC100420587	rs995834-C	0.425	1E-6	(Dominant model)	1.871	[1.364-2.566]	Illumina [733202]	N
806	chr19	29012920	29012921	rs8113142	23593202	Ran S	2013-04-04	PLoS One	Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche.	Femoral neck bone geometry and menarche (age at onset)	1,728 European ancestry individuals	501 European ancestry individuals, 826 Chinese ancestry individuals	19q12	LOC148145	rs8113142-?	NR	5E-6	(AAM-CT, Chinese)			Affymetrix [760794]	N
806	chr19	29035555	29035556	rs4141232	23593202	Ran S	2013-04-04	PLoS One	Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche.	Femoral neck bone geometry and menarche (age at onset)	1,728 European ancestry individuals	501 European ancestry individuals, 826 Chinese ancestry individuals	19q12	LOC148145	rs4141232-?	NR	9E-6	(AAM-BR, Chinese)			Affymetrix [760794]	N
806	chr19	29035555	29035556	rs4141232	23593202	Ran S	2013-04-04	PLoS One	Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche.	Femoral neck bone geometry and menarche (age at onset)	1,728 European ancestry individuals	501 European ancestry individuals, 826 Chinese ancestry individuals	19q12	LOC148145	rs4141232-?	NR	2E-7	(AAM-CT, EA)			Affymetrix [760794]	N
809	chr19	29489041	29489042	rs8102754	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	19q12	intergenic	rs8102754-A	0.454	8E-6	(Temperament)	0.12	[NR] unit increase	Affymetrix [677643]	N
811	chr19	29736341	29736342	rs11083866	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	19q12	intergenic	rs11083866-A	0.26	5E-6		114.77	[NR] unit increase	Illumina [2380200] (imputed)	N
813	chr19	29903676	29903677	rs12986207	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	19q12	VSTM2B	rs12986207-G	0.817	4E-6		0.044	[0.024-0.064] unit decrease	Illumina [6150213] (imputed)	N
813	chr19	29908106	29908107	rs10425935	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q12	LOC284395	rs10425935-G	0.099	3E-6	(GLU )	0.02	[NR] mg/dL increase	Illumina [899892]	N
813	chr19	29912293	29912294	rs892073	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q12	LOC284395	rs892073-A	0.044	8E-6	(CRP )	0.03	[NR] ng/mL increase	Illumina [899892]	N
814	chr19	30079603	30079604	rs10403021	21441570	Grassi MA	2011-03-26	Hum Mol Genet	Genome-wide meta-analysis for severe diabetic retinopathy.	Diabetic retinopathy	973 European ancestry cases, 1,856 European ancestry controls	NA	19q12	VSTM2B	rs10403021-C	0.66	2E-6		1.01	[NR]	Affymetrix, Illumina [2543887] (imputed)	N
814	chr19	30086006	30086007	rs10414410	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	19q12	NR	rs10414410-?		5E-6	(males)			Illumina [1211988] (imputed)	N
816	chr19	30286821	30286822	rs17513613	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q12	CCNE1	rs17513613-C	0.331	5E-6	(EA)	0.015	[0.0085-0.0215] kg/m2 increase	Affymetrix, Illumina [2550021]	N
816	chr19	30286821	30286822	rs17513613	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q12	CCNE1	rs17513613-C	0.326	3E-6		0.015	[0.0088-0.0214] kg/m2 increase	Affymetrix, Illumina [2550021]	N
816	chr19	30296852	30296853	rs8102137	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	19q12	CCNE1	rs8102137-C	0.33	1E-11		1.13	[1.09-1.17]	Illumina [462190]	N
816	chr19	30296852	30296853	rs8102137	20972438	Rothman N	2010-10-24	Nat Genet	A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.	Bladder cancer	3,532 European ancestry cases, 5,120 European ancestry controls	8,381 cases, 48,275 controls	19q12	CCNE1	rs8102137-C	0.33	2E-11		1.13	[1.09-1.17]	Illumina [589299]	N
818	chr19	30554950	30554951	rs6509942	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	19q12	NR	rs6509942-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
821	chr19	30937842	30937843	rs33428	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)	428 Japanese ancestry cases, 743 Japanese ancestry controls	NA	19q12	ZNF536	rs33428-G	0.403	3E-6	(Dominant model)	1.375	[1.160-1.629]	Illumina [733202]	N
821	chr19	30943676	30943677	rs33436	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q12	ZNF536	rs33436-A	0.442	5E-6	(Height z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
821	chr19	30945170	30945171	rs33439	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q12	ZNF536	rs33439-T	0.608	2E-6	(EA, women)	0.023	[0.014-0.033] kg/m2 increase	Affymetrix, Illumina [2550021]	N
821	chr19	30945170	30945171	rs33439	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q12	ZNF536	rs33439-T	0.606	1E-6	(EA)	0.019	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
821	chr19	30945170	30945171	rs33439	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q12	ZNF536	rs33439-T	0.604	8E-7		0.018	[0.011-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
821	chr19	30987422	30987423	rs2053079	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	19q12	NR	rs2053079-G	NR	2E-9		1.0752687	[NR]	Illumina [7158791] (imputed)	N
821	chr19	30987422	30987423	rs2053079	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	19q12	ZNF536	rs2053079-G	0.231	4E-9		1.0741138	[1.05-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
821	chr19	30990699	30990700	rs3786800	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		19q12	ZNF536	rs3786800-?	.803	3E-12			[NR]	Affymetrix, Illumina [152234]	N
821	chr19	30995199	30995200	rs55655041	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	19q12	ZNF536	rs55655041-?		7E-6	(PC1)	0.1336	[NR] unit decrease	Illumina [4167292] (imputed)	N
821	chr19	31035685	31035686	rs10418356	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	19q12	intergenic	rs10418356-G	0.03	7E-6		0.257	[0.15-0.37] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
822	chr19	31099889	31099890	rs746961	17903293	Benjamin EJ	2007-09-19	BMC Med Genet	Genome-wide association with select biomarker traits in the Framingham Heart Study.	Select biomarker traits	1,012 European ancestry individuals	NA	19q12	ZNF536	rs746961-?	NR	8E-7	(CRP6)			Affymetrix [70897]	N
824	chr19	31379108	31379109	rs7245959	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	19q12	TSHZ3	rs7245959-C	0.44	6E-6	(EA)	0.069	[0.04-0.098] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
824	chr19	31379108	31379109	rs7245959	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	19q12	TSHZ3	rs7245959-C	0.43	3E-6		0.059	[0.034-0.084] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
826	chr19	31596777	31596778	rs12459897	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	19q12	TSHZ3	rs12459897-T	NR	8E-7	(EPA)	0.09	[NR] % decrease	Affymetrix, Illumina [NR]	N
827	chr19	31801129	31801130	rs1078373	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	19q12	TSHZ3	rs1078373-?	0.3707	6E-6	(SSP)			Illumina [475971]	N
828	chr19	31911128	31911129	rs11880316	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Estradiol levels	1,583 European ancestry female individuals	NA	19q12	intergenic	rs11880316-A	0.01	4E-6		0.414	[NR] unit increase	Illumina [~ 2500000] (imputed)	N
830	chr19	32158463	32158464	rs16966122	23496005	Luca G	2013-03-18	J Sleep Res	Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.	Narcolepsy with cataplexy	585 European ancestry cases	387 European ancestry cases	19q12	NR	rs16966122-?	NR	2E-6	(ESS)	1.601	[NR] unit decrease	NR [NR]	N
836	chr19	32917454	32917455	rs2111504	19488044	Smith EN	2009-06-02	Mol Psychiatry	Genome-wide association study of bipolar disorder in European American and African American individuals.	Bipolar disorder	1,001 European ancestry cases, 1,033 European ancestry controls, 345 African American cases, 670 African American controls	1,550 European ancestry individuals from 250 families, 1,263 European ancestry cases, 431 European ancestry controls	19q13.11	DPY19L3	rs2111504-T	0.23	2E-6	(AA)	1.74	[NR]	Affymetrix [702044]	N
837	chr19	33089430	33089431	rs17692896	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	19q13.11	PDCD5, ANKRD27, RGS9BP, NUDT19	rs17692896-A	0.0739179	7E-7	(% improvement - SSRI treated - 2 weeks)	0.4395	[0.27-0.61] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
837	chr19	33093251	33093252	rs3815700	25407941	Sleiman PM	2014-11-19	Nat Commun	GWAS identifies four novel eosinophilic esophagitis loci.	Eosinophilic esophagitis	603 European ancestry cases, 3,637 European ancestry controls	333 European ancestry cases, 675 European ancestry controls	19q13.11	ANKRD27	rs3815700-C	0.14	2E-9		1.618	[1.46-1.78]	Illumina [~ 2300000] (imputed)	N
838	chr19	33181483	33181484	rs3892630	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	19q13.11	NUDT19	rs3892630-T	0.18	1E-10	(EA, MCV)	0.176	[0.11-0.24] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
839	chr19	33356890	33356891	rs12460876	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	19q13.11	CCDC123, ECAT8, SLC7A9	rs12460876-C	0.39	3E-15	(eGFRcrea)	0.01	[0.006-0.01] ml/min/1.73 m2 increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
839	chr19	33364627	33364628	rs8101881	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.11	SLC7A9	rs8101881-T	0.61	1E-16	(homocitrulline)	0.033	[0.025-0.041] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
839	chr19	33364627	33364628	rs8101881	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	19q13.11	SLC7A9	rs8101881-T	0.42	2E-33	(1.9025, Lysine)	0.44	[NR] unit increase	Illumina [713870] (imputed)	N
839	chr19	33364627	33364628	rs8101881	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	19q13.11	SLC7A9	rs8101881-T	0.42	1E-33	(3.0325, Lysine)	0.45	[NR] unit increase	Illumina [713870] (imputed)	N
839	chr19	33364627	33364628	rs8101881	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	19q13.11	SLC7A9	rs8101881-T	0.42	1E-33	(1.7325, Lysine)	0.45	[NR] unit increase	Illumina [713870] (imputed)	N
839	chr19	33364627	33364628	rs8101881	21572414	Suhre K	2011-05-15	Nat Genet	A genome-wide association study of metabolic traits in human urine.	Urinary metabolites	862 European ancestry male individuals	1,862 European ancestry individuals	19q13.11	SLC7A9	rs8101881-C	0.35	6E-27	(Lysine/valine ratio)			Affymetrix [645249]	N
840	chr19	33453658	33453659	rs4805834	20383145	Chambers JC	2010-04-11	Nat Genet	Genetic loci influencing kidney function and chronic kidney disease.	Creatinine levels	23,812 European ancestry individuals	16,626 European ancestry individuals	19q13.11	SLC7A9	rs4805834-A	0.13	5E-11		1.0	[0.7-1.3] % decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
840	chr19	33524918	33524919	rs73039434	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.11	RHPN2	rs73039434-C	0.123	3E-6	(Urinary free epinephrine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
840	chr19	33527887	33527888	rs13343954	24737748	Whiffin N	2014-04-15	Hum Mol Genet	Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.	Colorectal cancer	5,626 European ancestry cases, 7,817 European ancestry controls	14,037 European ancestry cases, 15,937 European ancestry controls	19q13.11	GPATCH1, RHPN2	rs13343954-T	0.857	7E-8		1.183	[NR]	Illumina [NR] (imputed)	N
840	chr19	33532299	33532300	rs10411210	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	19q13.11	RHPN2	rs10411210-C	0.82	3E-6	(East Asian)	1.12	[1.07-1.17]	Affymetrix, Illumina [2400000] (imputed)	N
840	chr19	33532299	33532300	rs10411210	19011631	Houlston RS	2008-11-16	Nat Genet	Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.	Colorectal cancer	1,902 European ancestry cases, 1,929 European ancestry controls	18,284 European ancestry cases, 18,926 European ancestry controls	19q13.11	RHPN2	rs10411210-C	0.90	5E-9		1.15	[1.10-1.20]	Illumina [up to 548586]	N
841	chr19	33599126	33599127	rs10416218	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	19q13.11	GPATCH1	rs10416218-T	0.73	7E-11	(LSBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
841	chr19	33605299	33605300	rs10416265	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	730 East Asian ancestry individuals, 2,380 European ancestry individuals, 11,150 individuals	11,058 European ancestry individuals, 2,870 European and other ancestry individuals, 21,439 individuals	19q13.11	GPATCH1	rs10416265-G	0.28	2E-13	(BUA)	0.06	[0.05-0.08] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
841	chr19	33605299	33605300	rs10416265	24430505	Moayyeri A	2014-01-14	Hum Mol Genet	Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.	Bone properties (heel)	2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals	10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals	19q13.11	GPATCH1	rs10416265-G	0.35	4E-12	(VOS)	0.06	[0.04-0.08] unit increase	Affymetrix, Illumina [up to 2609590] (imputed)	N
842	chr19	33713927	33713928	rs8106493	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	19q13.11	SLC7A10	rs8106493-T	0.20	5E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
842	chr19	33713927	33713928	rs8106493	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	19q13.11	SLC7A10	rs8106493-T	0.20	1E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
842	chr19	33731550	33731551	rs17694108	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.11	NR	rs17694108-A	0.2797	6E-12	(EA)	1.1005878	[1.07-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
842	chr19	33731550	33731551	rs17694108	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.11	NR	rs17694108-A	0.2797	1E-14	(EA)	1.089548	[1.07-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
842	chr19	33731550	33731551	rs17694108	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.11	NR	rs17694108-A	0.2797	3E-9	(EA)	1.0828425	[1.06-1.11]	Affymetrix, Illumina [~ 9000000] (imputed)	N
842	chr19	33731550	33731551	rs17694108	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	19q13.11	CEBPG	rs17694108-A	0.282	6E-15		1.1	[1.065-1.135]	Affymetrix, Illumina [1230000] (imputed)	N
842	chr19	33750313	33750314	rs10500264	19915574	Imielinski M	2009-11-15	Nat Genet	Common variants at five new loci associated with early-onset inflammatory bowel disease.	Inflammatory bowel disease (early onset)	2,413 European ancestry cases, 6,158 European ancestry controls	1,013 European ancestry cases, 5,805 European ancestry controls	19q13.11	intergenic	rs10500264-?	0.18	4E-10		1.21	[1.11-1.31]	Illumina [~ 500000]	N
842	chr19	33757061	33757062	rs736289	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	19q13.11	intergenic	rs736289-T	0.612	9E-9		1.06	[1.02-1.11]	Affymetrix, Illumina [953241] (imputed)	N
843	chr19	33824945	33824946	rs4081724	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19q13.11	CEBPA	rs4081724-G	0.8536	3E-7	(men)	0.0378	[0.023-0.052] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
843	chr19	33824945	33824946	rs4081724	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19q13.11	CEBPA	rs4081724-G	0.8529	5E-12		0.0347	[0.025-0.044] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
843	chr19	33824945	33824946	rs4081724	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19q13.11	CEBPA	rs4081724-G	0.8522	1E-7	(EA, men)	0.0391	[0.025-0.054] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
843	chr19	33824945	33824946	rs4081724	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19q13.11	CEBPA	rs4081724-G	0.8512	7E-12	(EA)	0.0347	[0.025-0.045] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
843	chr19	33824945	33824946	rs4081724	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19q13.11	CEBPA	rs4081724-G	0.8504	5E-7	(women)	0.0334	[0.02-0.047] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
843	chr19	33824945	33824946	rs4081724	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	19q13.11	CEBPA	rs4081724-G	0.8488	9E-7	(EA, women)	0.0327	[0.02-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
843	chr19	33884340	33884341	rs16968074	25820613	Warrington NM	2015-03-27	Hum Mol Genet	Genome-wide association study of blood lead shows multiple associations near ALAD.	Lead levels in blood	5,433 individuals	NA	19q13.11	PEPD	rs16968074-A	0.686	9E-7		0.101	[0.046-0.156] unit increase	Illumina [6391392] (imputed)	N
843	chr19	33888999	33889000	rs889140	24105470	Wu Y	2013-10-14	Hum Mol Genet	A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.	Adiponectin levels	7,827 East Asian ancestry individuals	10,252 East Asian ancestry individuals	19q13.11	PEPD	rs889140-A	0.450	4E-12		0.08	[0.060-0.100] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
843	chr19	33893007	33893008	rs3786897	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	19q13.11	PEPD	rs3786897-A	0.56	1E-8		1.1	[1.07-1.14]	Affymetrix, Illumina [2626356] (imputed)	N
843	chr19	33897933	33897934	rs10425465	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	19q13.11	PEPD, CEBPG	rs10425465-T	NR	3E-8		1.07	[NR]	Illumina [7158791] (imputed)	N
843	chr19	33899064	33899065	rs731839	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	19q13.11	PEPD	rs731839-G	0.35	3E-9		0.022	[NR] mg/dL increase	NR [NR] (imputed)	N
843	chr19	33899064	33899065	rs731839	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	19q13.11	PEPD	rs731839-G	0.35	3E-9		0.022	[NR] unit decrease	NR [NR] (imputed)	N
843	chr19	33899064	33899065	rs731839	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals	10,536 European ancestry individuals	19q13.11	PEPD	rs731839-G	0.35	8E-12		0.03	[0.022-0.038] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
843	chr19	33906122	33906123	rs4805885	22479202	Dastani Z	2012-03-29	PLoS Genet	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	Adiponectin levels	29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals	NA	19q13.11	PEPD	rs4805885-T	0.39	2E-8		0.03	[0.020-0.040] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
843	chr19	33909709	33909710	rs8182584	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting insulin-related traits (interaction with BMI)	Up to 51,750 European ancestry individuals	Up to 33,823 European ancestry individuals	19q13.11	PEPD	rs8182584-?		9E-8				Affymetrix, Illumina [~ 2400000] (imputed)	N
845	chr19	34130335	34130336	rs2059876	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	19q13.11	CHST8	rs2059876-?	NR	4E-7	(Shared)			Affymetrix, Illumina [~ 5200000]	N
845	chr19	34168272	34168273	rs4805924	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (working memory)	738 European ancestry, African American, and other ancestry cases	NA	19q13.11	CHST8	rs4805924-?	0.02	6E-7	(olanzapine)			Affymetrix [492900]	N
846	chr19	34309531	34309532	rs29941	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.11	KCTD15	rs29941-G	0.67	2E-8		0.018	[0.011-0.024] kg/m2 increase	Affymetrix, Illumina [2550021]	N
846	chr19	34309531	34309532	rs29941	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.11	KCTD15	rs29941-G	0.669	8E-6	(EA, women)	0.019	[0.01-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
846	chr19	34309531	34309532	rs29941	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.11	KCTD15	rs29941-G	0.669	2E-8	(EA)	0.018	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
846	chr19	34309531	34309532	rs29941	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	19q13.11	KCTD15	rs29941-G	0.67	3E-9		0.06	[0.02-0.10] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
846	chr19	34309531	34309532	rs29941	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	19q13.11	KCTD15, CHST8	rs29941-C	0.69	5E-9		3.73	[2.48-4.98] percentage SD increase	Illumina [305846]	N
846	chr19	34309531	34309532	rs29941	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Body mass index	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	19q13.11	KCTD15, CHST8	rs29941-C	0.69	7E-12		4.18	[2.98-5.38] % SD increase	Illumina [305846]	N
846	chr19	34320853	34320854	rs2546057	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	19q13.11	KCTD15	rs2546057-A	0.52	3E-7	(% improvement - 12 weeks)	1.183	[1.12-1.24]	Affymetrix, Illumina [1200000] (imputed)	N
846	chr19	34321257	34321258	rs398426	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	19q13.11	KCTD15, CHST8	rs398426-T	0.2588456	5E-6	(% improvement - SSRI treated - 12 weeks)	0.2513	[0.14-0.36] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
846	chr19	34322136	34322137	rs11084753	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	19q13.11	KCTD15	rs11084753-G	0.67	2E-8		0.06	[-0.01-0.13] kg/m2 increase	Affymetrix, Illumina [2399588] (imputed)	N
846	chr19	34333913	34333914	rs166988	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.11	KCTD15	rs166988-G	0.386	1E-6	(Energy balance )	0.04	[NR] kcal/d increase	Illumina [899892]	N
850	chr19	34766587	34766588	rs10407640	20215924	Liu X	2010-01-01	J Am Acad Child Adolesc Psychiatry	A genome-wide association study of amygdala activation in youths with and without bipolar disorder.	Functional MRI	36 European ancestry BD cases, 21 European ancestry controls, 1 African American BD case, 5 African American controls, 2 BD cases, 3 controls	NA	19q13.11	KIAA0355	rs10407640-?	NR	7E-6	(hostility, left amygdala)	31.0	[NR] % variance	Illumina [104043]	N
853	chr19	35147182	35147183	rs35917943	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	19q13.11	NR	rs35917943-C	NR	2E-7		0.77	[0.48-1.06] unit increase	NR [5896100] (imputed)	N
854	chr19	35282180	35282181	rs11084786	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels (BMI interaction)	28,610 European ancestry individuals	13,959 European ancestry individuals	19q13.11	ZNF599, LOC400685	rs11084786-G	0.43	9E-7	(Combined gender)	0.008	[0.0041-0.0119] unit increase	Affymetrix, Illumina [at least 188473] (imputed)	N
856	chr19	35555189	35555190	rs4806073	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	19q13.11	HPN, SCN1B	rs4806073-C	0.93	4E-18		0.0272	[0.021-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
856	chr19	35555189	35555190	rs4806073	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	19q13.11	HPN, SCN1B	rs4806073-C	0.93	3E-15	(EA)	0.0257	[0.019-0.032] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
856	chr19	35559473	35559474	rs11671010	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	19q13.11	HPN, SCN1B	rs11671010-?	NR	2E-13	(EA)			Affymetrix, Illumina [~ 2500000] (imputed)	N
859	chr19	35973288	35973289	rs6510489	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	19q13.12	intergenic	rs6510489-?	NR	8E-6	(NSM vs. Control)	1.92	[NR]	Affymetrix [703012]	N
864	chr19	36642883	36642884	rs17879437	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	19q13.12	COX7A1	rs17879437-C	0.7681	6E-7	(Case/control)	0.4789	[0.29-0.67] unit increase	Affymetrix, Illumina [NR] (imputed)	N
872	chr19	37684965	37684966	rs11673344	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.12	ZNF585B	rs11673344-G	0.411	5E-6	(Diet carbohydrate )	0.03	[NR] %energy increase	Illumina [899892]	N
872	chr19	37747107	37747108	rs7246657	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	19q13.12	ZNF383	rs7246657-T	0.53	7E-6	(AA)	0.16	[0.082-0.238] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
877	chr19	38325535	38325536	rs16975963	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	19q13.13	AC016582.2	rs16975963-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
880	chr19	38735612	38735613	rs8102476	19767754	Gudmundsson J	2009-09-20	Nat Genet	Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.	Prostate cancer	Up to 1,968 European ancestry cases, 35,382 European ancestry controls	Up to 11,806 European ancestry cases, 12,387 European ancestry controls	19q13.2	intergenic	rs8102476-C	0.54	2E-11		1.12	[1.08-1.15]	Illumina [310520]	N
881	chr19	38912763	38912764	rs892055	21182207	Salyakina D	2010-12-01	Autism Res	Variants in several genomic regions associated with asperger disorder.	Asperger disorder	848 individuals from 232 families	NA	19q13.2	ODF3L2	rs892055-?	0.33	5E-6				Illumina [439282] (imputed)	N
882	chr19	38975448	38975449	rs73030953	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	19q13.2	RYR1, RASGRP4, MAP4K1	rs73030953-G	0.02	5E-6		4.32	[2.18-8.55]	Illumina [1556551]	N
883	chr19	39174331	39174332	rs973009	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	19q13.2	intergenic	rs973009-?	0.87	4E-6		1.18	[1.1-1.27]	Affymetrix, Illumina [~ 2300000] (imputed)	N
883	chr19	39188111	39188112	rs11083475	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	19q13.2	ACTN4	rs11083475-G	0.537	2E-6				Affymetrix, Illumina [2516789] (imputed)	N
886	chr19	39580736	39580737	rs472265	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	19q13.2	FLJ16165	rs472265-G	0.22	9E-6	(Indian)	1.39	[1.20-1.61]	Illumina [~ 2000000] (imputed)	N
888	chr19	39731782	39731783	rs12980275	22497812	Clark PJ	2012-02-22	J Viral Hepat	Interleukin 28B polymorphisms are the only common genetic variants associated with low-density lipoprotein cholesterol (LDL-C) in genotype-1 chronic hepatitis C and determine the association between LDL-C and treatment response.	Lipid levels in hepatitis C treatment	1,017 European ancestry cases, 207 African American cases, 95 Hispanic cases	NA	19q13.2	IL28B	rs12980275-?	NR	5E-17				Illumina [565759]	N
888	chr19	39732751	39732752	rs688187	26075790	Kelemen LE	2015-06-15	Nat Genet	Genome-wide significant risk associations for mucinous ovarian carcinoma.	Mucinous ovarian carcinoma	1,003 European ancestry invasive cases, 641 European ancestry low malignant potential cases, 21,693 European ancestry controls	NA	19q13.2	IFNL3, IFNL4	rs688187-?	0.68	7E-13		1.4925373	[1.33-1.67]	Illumina [15504273] (imputed)	N
888	chr19	39732751	39732752	rs688187	26075790	Kelemen LE	2015-06-15	Nat Genet	Genome-wide significant risk associations for mucinous ovarian carcinoma.	Mucinous ovarian carcinoma	1,003 European ancestry invasive cases, 641 European ancestry low malignant potential cases, 21,693 European ancestry controls	NA	19q13.2	IFNL3, IFNL4	rs688187-?	0.68	1E-8	(Invasive Only)	1.4084507	[1.25-1.59]	Illumina [15504273] (imputed)	N
888	chr19	39738786	39738787	rs12979860	23420232	Duggal P	2013-02-19	Ann Intern Med	Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.	Chronic hepatitis C infection	1,482 chronic HCV cases, 919 spontaneously cleared HCV cases	461 chronic HCV cases, 284 spontaneously cleared HCV cases	19q13.2	IL-28B	rs12979860-?	NR	2E-30		2.2		Illumina [792721] (imputed)	N
888	chr19	39738786	39738787	rs12979860	19684573	Ge D	2009-08-16	Nature	Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance.	Response to hepatitis C treatment	871 European ancestry cases, 191 African American cases, 75 Hispanic cases	NA	19q13.2	IL28B	rs12979860-C	0.72	1E-28	(combined, EA)	2.0	[1.8-2.3]	Illumina [565759]	N
888	chr19	39743164	39743165	rs8099917	21228123	Ochi H	2011-01-12	J Gen Virol	IL-28B predicts response to chronic hepatitis C therapy--fine-mapping and replication study in Asian populations.	Response to hepatitis C treatment	2,101 East Asian ancestry cases, 282 Japanese ancestry controls	NA	19q13.2	IL28B	rs8099917-G	0.083	1E-20		3.0	[2.4-3.8]	Illumina [510537]	N
888	chr19	39743164	39743165	rs8099917	20060832	Rauch A	2010-01-07	Gastroenterology	Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study.	Chronic hepatitis C infection	1,015 European ancestry chronic HCV carriers, 347 European ancestry spontaneously cleared HCV individuals	NA	19q13.2	IL29, IL28B, IL28A	rs8099917-G	0.24	6E-9		2.31	[1.74-3.06]	Illumina [~ 500000]	N
888	chr19	39743164	39743165	rs8099917	19749758	Suppiah V	2009-09-13	Nat Genet	IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy.	Response to hepatitis C treatment	131 European ancestry responders, 162 European ancestry non-responders	261 European ancestry responders, 294 European ancestry non-responders	19q13.2	IL28A, IL28B	rs8099917-G	NR	9E-9		1.98	[1.57-2.52]	Illumina [311159]	N
888	chr19	39743164	39743165	rs8099917	19749757	Tanaka Y	2009-09-13	Nat Genet	Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C.	Response to hepatitis C treatment	64 Japanese ancestry responders, 78 Japanese ancestry non-responders	122 Japanese ancestry responders, 50 Japanese ancestry non-responders	19q13.2	IL28B	rs8099917-G	0.12	3E-32		27.1	[14.6-50.3]	Affymetrix [621220]	N
889	chr19	39849788	39849789	rs562638	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.2	SAMD4B	rs562638-G	0.117	6E-6	(Sedentary&light activity )	0.02	[NR] min/d increase	Illumina [899892]	N
891	chr19	40170052	40170053	rs8103033	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.2	LGALS17A	rs8103033-G	0.458	8E-6	(Urinary nitrogen )	0.04	[NR] g/d increase	Illumina [899892]	N
891	chr19	40229408	40229409	rs12611334	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	19q13.2	LGALS17A, CLC	rs12611334-G	0.70	2E-6	(EA)	1.4	[NR]	NR [1085772] (imputed)	N
897	chr19	41015964	41015965	rs6508941	25758998	Rubicz R	2015-03-11	Eur J Hum Genet	Genome-wide genetic investigation of serological measures of common infections.	Antibody level in response to infection	1,932 Mexican-American individuals	NA	19q13.2	SPTBN4	rs6508941-T	0.217	8E-7	(Influenza A)	0.26	[NR] unit increase	Illumina [944565]	N
899	chr19	41224203	41224204	rs28493229	22081228	Khor CC	2011-11-13	Nat Genet	Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.	Kawasaki disease	405 European ancestry cases, 6,252 European ancestry controls	605 European ancestry cases and 1,349 European ancestry controls from 740 families, 135 cases and 270 controls from 135 families, 1,028 East Asian ancestry cases, 1,512 East Asian ancestry controls	19q13.2	ITPKC, MIA, RAB4B	rs28493229-?	0.13	2E-12		1.52	[1.35-1.70]	Illumina [494236]	N
899	chr19	41281015	41281016	rs2233152	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	19q13.2	NUMBL, MIA	rs2233152-A	0.158	4E-10		1.52	[1.28-1.81]	Illumina [463793]	N
900	chr19	41302705	41302706	rs7937	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	19q13.2	MIA, RAB4B	rs7937-T	NR	2E-6	(%LAA-950, All)	0.08	[0.049-0.111] unit decrease	Illumina [7600000] (imputed)	N
900	chr19	41302705	41302706	rs7937	22080838	Cho MH	2011-11-11	Hum Mol Genet	A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.	Chronic obstructive pulmonary disease	3,499 European ancestry cases, 1,922 European ancestry controls	983 cases, 1,876 sibling controls	19q13.2	RAB4B, EGLN2, CYP2A6	rs7937-?	NR	3E-9		1.37	[1.20-1.59]	Illumina [797983]	N
900	chr19	41310570	41310571	rs3733829	20418890	The Tobacco and Genetics Consortium	2010-04-25	Nat Genet	Genome-wide meta-analyses identify multiple loci associated with smoking behavior.	Smoking behavior	Up to 74,035 European ancestry individuals	Up to 68,988 participants	19q13.2	EGLN2, CYP2A6	rs3733829-G	0.36	1E-8	(CPD)	0.33	[0.22-0.44] CPD increase	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
900	chr19	41353106	41353107	rs56113850	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	19q13.2	CYP2A6	rs56113850-T	0.40	1E-9	(Moderate Centrilobular)	0.02	[0.012-0.028] unit decrease	Illumina [6942916] (imputed)	N
900	chr19	41353106	41353107	rs56113850	25006744	Castaldi PJ	2014-07-09	Am J Respir Crit Care Med	Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.	Local histogram emphysema pattern	3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases	NA	19q13.2	CYP2A6	rs56113850-T	0.4	1E-6	(Moderate Centrilobular, EA)	0.02	[0.012-0.028] unit decrease	Illumina [6942916] (imputed)	N
900	chr19	41354532	41354533	rs1801272	23049750	Kumasaka N	2012-09-25	PLoS One	Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population.	Smoking behavior	11,696 Japanese ancestry smokers	5,462 Japanese ancestry smokers	19q13.2	NR	rs1801272-T	0.012	5E-6		9.4	[5.48-13.32] unit decrease	Illumina [2312503] (imputed)	N
900	chr19	41358623	41358624	rs4105144	20418888	Thorgeirsson TE	2010-04-25	Nat Genet	Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.	Smoking behavior	31,266 European ancestry individuals	54,731 European ancestry individuals	19q13.2	CYP2A6, RAB4D	rs4105144-C	0.70	2E-12		0.39	[0.27-0.51] CPD increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
900	chr19	41363764	41363765	rs8102683	23049750	Kumasaka N	2012-09-25	PLoS One	Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population.	Smoking behavior	11,696 Japanese ancestry smokers	5,462 Japanese ancestry smokers	19q13.2	CYP2A6	rs8102683-?	NR	4E-42		2.76	[2.36-3.16] unit increase	Illumina [2312503] (imputed)	N
901	chr19	41521637	41521638	rs7260329	20418888	Thorgeirsson TE	2010-04-25	Nat Genet	Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.	Smoking behavior	31,266 European ancestry individuals	54,731 European ancestry individuals	19q13.2	CYP2B6	rs7260329-G	0.69	6E-6		0.2	[0.12-0.28] CPD increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
901	chr19	41522068	41522069	rs8109848	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	19q13.2	CYP2B6	rs8109848-?		4E-13	(PCB99)	0.34	[0.24-0.44] unit increase	Illumina [8736858] (imputed)	N
901	chr19	41522068	41522069	rs8109848	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	19q13.2	CYP2B6	rs8109848-?		3E-8	(PCB138)	0.26	[0.16-0.36] unit increase	Illumina [8736858] (imputed)	N
901	chr19	41523015	41523016	rs3181842	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	19q13.2	CYP2B6	rs3181842-?	NR	1E-7	(PCB153)	0.23	[0.15-0.31] unit increase	Illumina [8736858] (imputed)	N
902	chr19	41673847	41673848	rs8105815	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	19q13.2	NR	rs8105815-?	NR	8E-6		1.3918	[NR]	Illumina [NR] (imputed)	N
904	chr19	41851508	41851509	rs4803455	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine	23,285 European ancestry cases, 95,425 European ancestry controls	NA	19q13.2	intergenic	rs4803455-?	0.5	8E-7		1.05	[1.03-1.08]	Affymetrix, Illumina [~ 2300000] (imputed)	N
904	chr19	41860295	41860296	rs1800469	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	19q13.2	TGFB1, B9D2	rs1800469-G	0.48	1E-8	(East Asian)	1.09	[1.06-1.12]	Affymetrix, Illumina [2400000] (imputed)	N
904	chr19	41922351	41922352	rs4803468	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	19q13.2	BCKDHA	rs4803468-A	0.419	2E-21		0.03	[0.024-0.036] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
904	chr19	41937094	41937095	rs17318596	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	19q13.2	ATP5SL	rs17318596-A	0.36	5E-16		0.032	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
905	chr19	41985586	41985587	rs11672691	23065704	Amin Al Olama A	2012-10-12	Hum Mol Genet	A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.	Prostate cancer	5,132 European ancestry non-aggressive cases, 5,953 European ancestry aggressive cases, 11,463 European ancestry controls	22,387 European ancestry non-aggressive cases, 2,008 European ancestry aggressive cases, up to 24,726 European ancestry controls	19q13.2	ATP5SL, CEACAM21	rs11672691-G	NR	2E-12	(All)	1.08	[1.04-1.12]	Illumina [~ 2600000] (imputed)	N
905	chr19	41985586	41985587	rs11672691	23065704	Amin Al Olama A	2012-10-12	Hum Mol Genet	A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.	Prostate cancer	5,132 European ancestry non-aggressive cases, 5,953 European ancestry aggressive cases, 11,463 European ancestry controls	22,387 European ancestry non-aggressive cases, 2,008 European ancestry aggressive cases, up to 24,726 European ancestry controls	19q13.2	ATP5SL, CEACAM21	rs11672691-G	NR	1E-8	(Aggressive)	1.11	[1.02-1.20]	Illumina [~ 2600000] (imputed)	N
905	chr19	42066278	42066279	rs4803480	21682944	Alkelai A	2011-06-20	Int J Neuropsychopharmacol	DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population.	Schizophrenia	155 Jewish-Israeli ancestry cases and 176 Jewish-Israeli ancestry controls from 107 families	99 Arab-Israeli ancestry cases and 99 Arab-Israeli ancestry controls from 57 families	19q13.2	ATP5SL, CEACAM21	rs4803480-A	0.13	1E-7				Illumina [311517]	N
907	chr19	42303946	42303947	rs140520053	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	19q13.2	NR	rs140520053-?	NR	5E-7	(AA)	1.6277	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
909	chr19	42521107	42521108	rs8099939	21771265	Yosifova A	2011-07-19	Genes Brain Behav	Genome-wide association study on bipolar disorder in the Bulgarian population.	Bipolar disorder	188 Bulgarian ancestry cases, 376 Bulgarian ancestry controls	122 Bulgarian ancestry cases, 328 Bulgarian ancestry controls	19q13.2	GRIK5	rs8099939-T	0.39	2E-6		1.95	[1.43-2.67]	Illumina [497732]	N
920	chr19	43933724	43933725	rs34705275	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	19q13.31	TEX101, LYPD3	rs34705275-A	NR	4E-8		0.0337	[NR] unit increase	Illumina [11892802] (imputed)	N
921	chr19	44072801	44072802	rs12611088	24535457	Chouraki V	2014-02-18	Mol Psychiatry	A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly.	Plasma amyloid beta peptide concentrations (ABx-42)	3,528 European ancestry individuals	NA	19q13.31	XRCC1	rs12611088-A	0.371	1E-6		0.07	[0.031-0.109] unit increase	Illumina [2316178] (imputed)	N
922	chr19	44286512	44286513	rs3760982	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	19q13.31	C19orf61, KCNN4, LYPD5, ZNF283	rs3760982-A	0.46	2E-10		1.06	[1.04-1.08]	Affymetrix, Illumina [~ 2600000] (imputed)	N
922	chr19	44299891	44299892	rs349045	25003214	Davis OS	2014-07-08	Nat Commun	The correlation between reading and mathematics ability at age twelve has a substantial genetic component.	Reading or mathematical ability	up to 2,794 European ancestry unrelated members of twin pairs	2,153 European ancestry individuals	19q13.31	LYPD5, ZNF45, ZNF404	rs349045-T	0.52	8E-9	(reading)	0.132	[0.087-0.177] unit decrease	Affymetrix [1588650] (imputed)	N
924	chr19	44511388	44511389	rs2191566	19684603	Trevino LR	2009-08-16	Nat Genet	Germline genomic variants associated with childhood acute lymphoblastic leukemia.	Acute lymphoblastic leukemia (childhood)	317 European ancestry cases, 17,958 European ancestry controls	NA	19q13.31	ZNF230	rs2191566-G	0.28	4E-7		1.52	[1.20-1.70]	Affymetrix [307944]	N
925	chr19	44614207	44614208	rs2061333	19118814	Beecham GW	2009-01-03	Am J Hum Genet	Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.	Alzheimer's disease	492 European ancestry cases, 496 European ancestry controls	238 European ancestry cases, 220 European ancestry controls	19q13.31	ZNF224	rs2061333-?	NR	2E-6				Illumina [~ 2500000] (imputed)	N
927	chr19	44888275	44888276	rs4142248	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		19q13.31	ZNF285A	rs4142248-?	0.058	3E-15			[NR]	Affymetrix, Illumina [152234]	N
927	chr19	44906022	44906023	rs17657696	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	19q13.31	NR	rs17657696-?	NR	4E-7	(AA)	1.0923	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
927	chr19	44932971	44932972	rs1434579	20694014	Thye T	2010-08-08	Nat Genet	Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.	Tuberculosis	2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls	1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls	19q13.31	NR	rs1434579-?	0.06	4E-6		1.46	[1.20-1.70]	Affymetrix [> 333754] (imputed)	N
928	chr19	44970934	44970935	rs644148	18957941	Terracciano A	2008-11-24	Mol Psychiatry	Genome-wide association scan for five major dimensions of personality.	Personality dimensions	3,972 Sardinian individuals	3,903 individuals	19q13.31	ZNF180	rs644148-G	0.50	9E-7	(openness)	0.15	[NR] s.d. increase	Affymetrix [362129]	N
928	chr19	44970934	44970935	rs644148	18957941	Terracciano A	2008-11-24	Mol Psychiatry	Genome-wide association scan for five major dimensions of personality.	Personality dimensions	3,972 Sardinian individuals	3,903 individuals	19q13.31	ZNF180	rs644148-G	0.50	8E-6	(extraversion)	0.14	[NR] s.d. increase	Affymetrix [362129]	N
928	chr19	45046351	45046352	rs1661178	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	19q13.31	NR	rs1661178-?	NR	3E-6		2.528	[1.51-3.54] unit decrease	Illumina [498648]	N
929	chr19	45146102	45146103	rs7255066	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	19q13.31	PVR	rs7255066-G	NR	1E-6		1.09	[1.07-1.11]	Illumina [465434]	N
930	chr19	45242106	45242107	rs2927438	24121790	Levine DM	2013-10-13	Nat Genet	A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.	Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	3,928 European ancestry cases, 3,207 European ancestry controls	1,636 European ancestry cases, 6,911 European ancestry controls	19q13.32	NR	rs2927438-C	0.778	2E-6		1.1628	[1.1-1.25]	Illumina [922031]	N
930	chr19	45247626	45247627	rs4803750	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	19q13.32	2-APOE, APOC1	rs4803750-?	NR	3E-51	(APOB.assay, whole)	8.495	[NR] unit decrease	Illumina [335603]	N
930	chr19	45247626	45247627	rs4803750	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	19q13.32	2-APOE, APOC1	rs4803750-?	NR	1E-37	(LDL-C.assay, whole)	9.284	[NR] unit decrease	Illumina [335603]	N
930	chr19	45247626	45247627	rs4803750	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	19q13.32	2-APOE, APOC1	rs4803750-?	NR	1E-27	(LDL-C.assay, fasting)	9.276	[NR] unit decrease	Illumina [335603]	N
930	chr19	45326767	45326768	rs1871045	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Waist-to-hip circumference ratio (interaction)	8,203 African American females, 3,484 Hispanic females	NA	19q13.32	BCAM, PVRL2	rs1871045-T	0.39	4E-6	(Hispanic, Smoking, Years)	0.52	[0.30-0.74] unit increase	Affymetrix [706791]	N
931	chr19	45376283	45376284	rs519113	23565137	Miyashita A	2013-04-02	PLoS One	SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.	Alzheimer's disease (late onset)	891 Japanese ancestry cases, 844 Japanese ancestry controls	1,224 East Asian ancestry cases, 2,114 East Asian ancestry controls, 11,840 European ancestry cases, 10,931 European ancestry controls	19q13.32	APOE, CEACAM16, BCL3, PVRL2, TOMM40, PPP1R37	rs519113-G	0.29	5E-39	(Japanese)	2.09	[1.87-2.34]	Affymetrix [5877918] (imputed)	N
931	chr19	45376283	45376284	rs519113	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	HDL cholesterol	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	19q13.32	APOE, PVRL2, TOMM40	rs519113-C	0.15	8E-11		0.0179	[0.012-0.023] mg/dL decrease	Affymetrix [~ 2200000] (imputed)	N
931	chr19	45382033	45382034	rs6859	22159054	Logue MW	2011-12-01	Arch Neurol	A comprehensive genetic association study of Alzheimer disease in African Americans.	Alzheimer's disease	513 African American cases, 496 African American controls	NA	19q13.32	PVRL2	rs6859-A	NR	5E-7		1.58	[NR]	Illumina [2505093] (imputed)	N
931	chr19	45382033	45382034	rs6859	20885792	Naj AC	2010-09-23	PLoS Genet	Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.	Alzheimer's disease (late onset)	931 cases, 1,104 controls	1,338 cases, 2,003 controls	19q13.32	PVRL2	rs6859-A	0.46	1E-7		1.41	[1.24-1.60]	Illumina [483399]	N
931	chr19	45382033	45382034	rs6859	18823527	Abraham R	2008-09-29	BMC Med Genomics	A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.	Alzheimer's disease	1,082 European ancestry cases, 1,239 European ancestry controls	1,400 controls	19q13.32	APOE, PVRL2, TOMM40	rs6859-A	NR	6E-14				Illumina [561494]	N
931	chr19	45392253	45392254	rs6857	26154020	Ferrari R	2015-06-12	Neurobiol Aging	A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.	Frontotemporal dementia	530 European ancestry cases, 926 European ancestry controls	NA	19q13.32	PVRL2	rs6857-T	0.13	8E-6		1.7	[1.46-1.94]	Illumina [2292247] (imputed)	N
931	chr19	45392253	45392254	rs6857	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	19q13.32	PVRL2, TOMM40	rs6857-T	0.16	4E-13	(PAR-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45392253	45392254	rs6857	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	19q13.32	PVRL2, TOMM40	rs6857-T	0.16	4E-13	(PAR-dr)			Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45392253	45392254	rs6857	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	19q13.32	PVRL2	rs6857-T	0.3285	5E-47	(Ordinal I)	0.6632	[0.57-0.75] unit increase	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45392253	45392254	rs6857	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	19q13.32	PVRL2	rs6857-T	0.3219	5E-44	(Ordinal II)	0.7871	[0.68-0.9] unit increase	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45392253	45392254	rs6857	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	19q13.32	PVRL2	rs6857-T	0.3155	3E-47	(Ordinal)	0.9467	[0.82-1.08] unit increase	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45392253	45392254	rs6857	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA	19q13.32	PVRL2	rs6857-T	0.2661	2E-27	(Case/control)	1.2932	[1.06-1.53] unit increase	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45392253	45392254	rs6857	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	19q13.32	PVRL2	rs6857-T	0.2883	2E-62	(Primary)	1.6136	[1.42-1.8] unit increase	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45392253	45392254	rs6857	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	19q13.32	PVRL2	rs6857-T	0.2864	3E-38	(Complete)	1.501	[1.27-1.73] unit increase	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45392253	45392254	rs6857	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Cerebral amyloid angiopathy	1,673 cases, 1,134 controls	NA	19q13.32	PVRL2	rs6857-T	0.3429	3E-21		0.6708	[0.53-0.81] unit increase	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45392253	45392254	rs6857	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	19q13.32	PVRL2	rs6857-T	0.28	1E-10	(Cortical Ab)			Illumina [6108668] (imputed)	N
931	chr19	45392253	45392254	rs6857	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	19q13.32	PVRL2	rs6857-?	0.85	1E-6	(EA)	1.23	[1.14-1.35]	Affymetrix, Illumina [~ 2500000] (imputed)	N
931	chr19	45392253	45392254	rs6857	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	19q13.32	APOE, PVRL2, TOMM40	rs6857-?	0.85	1E-6		1.23	[1.14-1.35]	Affymetrix, Illumina [~ 2500000] (imputed)	N
931	chr19	45395265	45395266	rs157580	21627779	Antunez C	2011-05-31	Genome Med	The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.	Alzheimer's disease	319 European ancestry cases, 769 European ancestry controls, 2,690 cases, 2,237 controls	4,982 European ancestry cases, 7,961 European ancestry controls, 2,190 cases, 3,374 controls	19q13.32	APOE	rs157580-?	NR	8E-89		1.69	[NR]	Affymetrix, Illumina [696707] (imputed)	N
931	chr19	45395265	45395266	rs157580	21123754	Kim S	2010-12-01	Neurology	Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.	Alzheimer's disease biomarkers	96 European ancestry Alzheimer disease cases, 176 European ancestry individuals with mild cognitive impairment, 102 European ancestry controls	NA	19q13.32	TOMM40	rs157580-?	NR	1E-6	(AB1-42)			Illumina [322557]	N
931	chr19	45395265	45395266	rs157580	19125160	Feulner TM	2009-01-07	Mol Psychiatry	Examination of the current top candidate genes for AD in a genome-wide association study.	Alzheimer's disease	491 European ancestry cases, 479 European ancestry controls	NA	19q13.32	APOE, TOMM40	rs157580-?	NR	1E-40				Illumina [~ 550000]	N
931	chr19	45395265	45395266	rs157580	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	LDL cholesterol	17,083 European ancestry individuals, 714 Orcadian individuals	NA	19q13.32	APOE, TOMM40	rs157580-G	0.33	2E-19		0.11	[NR] s.d. decrease	Affymetrix, Illumina [up to 600000]	N
931	chr19	45395265	45395266	rs157580	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	HDL cholesterol	20,697 European ancestry individuals, 715 Orcadian individuals	NA	19q13.32	APOE, TOMM40	rs157580-G	0.33	4E-7		0.06	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
931	chr19	45395265	45395266	rs157580	19060910	Sabatti C	2008-12-07	Nat Genet	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	LDL cholesterol	4,763 Northern Finnish founder individuals	NA	19q13.32	APO cluster	rs157580-G	0.29	5E-8		0.11	[0.07-0.15] mmol/l decrease	Illumina [329091]	N
931	chr19	45395618	45395619	rs2075650	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	TOMM40	rs2075650-A	0.85	3E-9		0.026	[0.017-0.034] kg/m2 increase	Affymetrix, Illumina [2550021]	N
931	chr19	45395618	45395619	rs2075650	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	TOMM40	rs2075650-A	0.849	1E-7	(EA, women)	0.031	[0.02-0.042] kg/m2 increase	Affymetrix, Illumina [2550021]	N
931	chr19	45395618	45395619	rs2075650	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	TOMM40	rs2075650-A	0.848	1E-8	(EA)	0.026	[0.017-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
931	chr19	45395618	45395619	rs2075650	24770881	Nelson PT	2014-04-27	Acta Neuropathol	ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.	Alzheimer's disease	1443 cases and 99 controls	NA	19q13.32	APOE, TOMM40	rs2075650-?	NR	4E-13				NR [4913579] (imputed)	N
931	chr19	45395618	45395619	rs2075650	24755620	Perez-Palma E	2014-04-22	PLoS One	Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.	Alzheimer's disease	2,540 European ancestry cases, 2,029 European ancestry controls	NA	19q13.32	APOE, BCAM, PVR, EXOC3L2, TOMM40, PVRL2, BCL3, APOC1	rs2075650-G		9E-116		4.48	[NR]	Affymetrix, Illumina [1216213] (imputed)	N
931	chr19	45395618	45395619	rs2075650	23844046	Dorajoo R	2013-07-02	PLoS One	Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?	C-reactive protein	2,179 Chinese ancestry individuals, 2,275 Malay ancestry individuals, 2,238 Asian Indian ancestry individuals	NA	19q13.32	APOE	rs2075650-G	0.122	2E-21		0.116	[NR] unit increase	Illumina [up to 1745429] (imputed)	N
931	chr19	45395618	45395619	rs2075650	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	19q13.32	APOE, TOMM40	rs2075650-A	0.86	3E-6		1.21	[1.11 - 1.32]	Affymetrix, Illumina [~ 2500000] (imputed)	N
931	chr19	45395618	45395619	rs2075650	23326517	Holliday EG	2013-01-11	PLoS One	Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.	Age-related macular degeneration	3,772 European ancestry cases, 16,033 European ancestry controls	264 Asian ancestry cases, 3,926 Asian ancestry controls	19q13.32	APOE, TOMM40	rs2075650-A	0.86	1E-6	(EA)	1.23	[1.13-1.34]	Affymetrix, Illumina [~ 2500000] (imputed)	N
931	chr19	45395618	45395619	rs2075650	23207651	Davies G	2012-12-04	Mol Psychiatry	A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.	Cognitive decline	3,280 European ancestry individuals	1,367 European ancestry individuals	19q13.32	TOMM40	rs2075650-G	NR	2E-8		0.2	[0.12-0.28] unit decrease	Illumina [549692]	N
931	chr19	45395618	45395619	rs2075650	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	19q13.32	TOMM40	rs2075650-A	0.851	8E-8		1.37	[1.22-1.54]	Illumina [2272849] (imputed)	N
931	chr19	45395618	45395619	rs2075650	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	19q13.32	TOMM40	rs2075650-G	0.15	4E-8	(CRP)	0.116	[0.075-0.157] unit decrease	Illumina [NR] (imputed)	N
931	chr19	45395618	45395619	rs2075650	21943158	Middelberg RP	2011-09-24	BMC Med Genet	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	Cardiovascular disease risk factors	11,683 European ancestry individuals	NA	19q13.32	TOMM40	rs2075650-G	0.15	2E-14	(LDL)	0.153	[0.11-0.19] mmol/l increase	Illumina [NR] (imputed)	N
931	chr19	45395618	45395619	rs2075650	21418511	Deelen J	2011-03-21	Aging Cell	Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.	Longevity	403 European ancestry cases, 1,670 European ancestry controls	1,578 European ancestry cases, 1,997 European ancestry controls, 2,168 cases, 3,915 controls	19q13.32	APOE, TOMM40	rs2075650-?	0.855	3E-17		1.41	[1.30-1.54]	Illumina [516721]	N
931	chr19	45395618	45395619	rs2075650	21123754	Kim S	2010-12-01	Neurology	Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.	Alzheimer's disease biomarkers	96 European ancestry Alzheimer disease cases, 176 European ancestry individuals with mild cognitive impairment, 102 European ancestry controls	NA	19q13.32	TOMM40	rs2075650-?	NR	1E-6	(p-tau181p/AB1-42, t-tau/AB1-42)			Illumina [322557]	N
931	chr19	45395618	45395619	rs2075650	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal AB1-42 levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	19q13.32	TOMM40	rs2075650-G	NR	3E-7	(Controls)			Illumina [498205]	N
931	chr19	45395618	45395619	rs2075650	20885792	Naj AC	2010-09-23	PLoS Genet	Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.	Alzheimer's disease (late onset)	931 cases, 1,104 controls	1,338 cases, 2,003 controls	19q13.32	APOE, TOMM40	rs2075650-G	0.20	5E-36		2.94	[2.48-3.47]	Illumina [483399]	N
931	chr19	45395618	45395619	rs2075650	20460622	Seshadri S	2010-05-12	JAMA	Genome-wide analysis of genetic loci associated with Alzheimer disease.	Alzheimer's disease	973 incident AD cases, 2,033 prevalent AD cases, 22,604  controls of European and Hispanic ancestry	6,505 European ancestry cases, 13,532 European ancestry controls	19q13.32	APOE	rs2075650-G	0.14	1E-295		2.53	[2.41-2.66]	Affymetrix, Illumina [~ 2500000] (imputed)	N
931	chr19	45395618	45395619	rs2075650	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	19q13.32	TOMM40	rs2075650-?	NR		<1 x 10-6 (multiple phenotypes)			Illumina [530992]	N
931	chr19	45395618	45395619	rs2075650	20061627	Heinzen EL	2009-09-11	J Alzheimers Dis	Genome-wide scan of copy number variation in late-onset Alzheimer's disease.	Alzheimer's disease	331 European ancestry cases, 368 European ancestry controls	NA	19q13.32	APOE, TOMM40	rs2075650-?	0.15	3E-11				Illumina [~ 550000]	N
931	chr19	45395618	45395619	rs2075650	19734903	Lambert JC	2009-09-06	Nat Genet	Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.	Alzheimer's disease	2,032 European ancestry cases, 5,328 European ancestry controls	3,978 European ancestry cases, 3,297 European ancestry controls	19q13.32	APOE	rs2075650-?	0.90	2E-16				Illumina [537029]	N
931	chr19	45395618	45395619	rs2075650	19734902	Harold D	2009-09-06	Nat Genet	Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.	Alzheimer's disease	3,941 European ancestry cases, 7,848 European ancestry controls	2,023 European ancestry cases, 2,340 European ancestry controls	19q13.32	APOE, TOMM40	rs2075650-?	0.15	2E-157		2.53	[2.37-2.71]	Illumina [529205]	N
931	chr19	45395618	45395619	rs2075650	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Cholesterol, total	21,848 European ancestry individuals, 714 Orcadian individuals	NA	19q13.32	APOE, TOMM40	rs2075650-G	0.15	3E-19		0.14	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
931	chr19	45395618	45395619	rs2075650	18439552	Reiner AP	2008-04-24	Am J Hum Genet	Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.	C-reactive protein	909 European ancestry individuals	5,106 European ancestry individuals	19q13.32	APOE	rs2075650-?	NR	1E-7				Illumina [317000]	N
931	chr19	45396218	45396219	rs157582	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	19q13.32	APOE, TOMM40	rs157582-T	0.22	1E-8	(TG)	0.1	[NR] mmol/l increase	Illumina [1257079] (imputed)	N
931	chr19	45396218	45396219	rs157582	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis and Alzheimer's disease	1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families	NA	19q13.32	APOE	rs157582-?	0.26	9E-52		2.3	[NR]	Illumina [1847262] (imputed)	N
931	chr19	45396664	45396665	rs59007384	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	19q13.32	TOMM40	rs59007384-T	0.32	7E-9	(Cortical Ab)			Illumina [6108668] (imputed)	N
931	chr19	45403215	45403216	rs115881343	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	19q13.32	TOMM40	rs115881343-?	0.026	4E-9	(EA)	0.044	[.02931-.0585] unit decrease	Illumina [1530316]	N
931	chr19	45403411	45403412	rs1160985	24386095	Zhou L	2013-12-30	PLoS One	A genome wide association study identifies common variants associated with lipid levels in the Chinese population.	Lipid traits	3,451 Han Chinese ancestry individuals	8,830 Han Chinese ancestry individuals	19q13.32	TOMM40	rs1160985-T	0.37	4E-13	(LDL)	0.127	[0.084-0.170] mmol/L decrease	Affymetrix, Illumina [up to 2249917] (imputed)	N
931	chr19	45403411	45403412	rs1160985	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	LDL cholesterol	7,861 African American individuals, 3,425 Hispanic individuals	7,138 African American individuals	19q13.32	APOE	rs1160985-C	0.365	2E-21	(AA)	6.772	[NR] unit increase	Affymetrix [NR]	N
931	chr19	45403411	45403412	rs1160985	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	19q13.32	TOMM40	rs1160985-C	0.366	4E-13	(AA women)	0.1343	[NR] unit decrease	Affymetrix [up to 2203609] (imputed)	N
931	chr19	45404578	45404579	rs394819	26339675	Tosto G	2015-06-18	Ann Clin Transl Neurol	F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease.	Alzheimer's disease (late onset)	2,451 Caribbean Hispanic cases, 2,063 Caribbean Hispanic controls	550 Caribbean Hispanic cases, 236 Caribbean Hispanic controls	19q13.32	TOMM40, APOE	rs394819-T	0.07	8E-11		1.89	[1.55-2.3]	Affymetrix, Illumina [8837542] (imputed)	N
931	chr19	45406672	45406673	rs10119	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	19q13.32	TOMM40	rs10119-?	NR	6E-9		0.0446	[0.030-0.059] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
931	chr19	45410001	45410002	rs769449	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	19q13.32	APOE	rs769449-?	0.116	5E-19	(EA)	0.0315	[0.02457-0.03835] unit decrease	Illumina [1530316]	N
931	chr19	45410001	45410002	rs769449	23562540	Cruchaga C	2013-04-04	Neuron	GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.	Alzheimer's disease biomarkers	591 European ancestry cases, 687 European ancestry controls		19q13.32	APOE, TOMM40	rs769449-A	NR	2E-18	(ptau)	0.091	[NR] unit increase	Illumina [5815690] (imputed)	N
931	chr19	45410001	45410002	rs769449	23562540	Cruchaga C	2013-04-04	Neuron	GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.	Alzheimer's disease biomarkers	591 European ancestry cases, 687 European ancestry controls		19q13.32	APOE, TOMM40	rs769449-A	NR	2E-16	(tau)	0.082	[NR] unit increase	Illumina [5815690] (imputed)	N
931	chr19	45410001	45410002	rs769449	18439548	Ridker PM	2008-04-24	Am J Hum Genet	Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.	C-reactive protein	6,345 European ancestry female individuals	NA	19q13.32	APOE	rs769449-?	NR	9E-21		0.26	[NR] mg/dl decrease	Illumina [336108]	N
931	chr19	45411940	45411941	rs429358	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	19q13.32	APOE	rs429358-T	0.84	1E-14		0.066	[0.048-0.084] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
931	chr19	45411940	45411941	rs429358	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	19q13.32	APOE, LOC100129500	rs429358-C	0.7347	5E-12	(Ordinal II)	0.508	[0.36-0.65] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45411940	45411941	rs429358	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	19q13.32	APOE, LOC100129500	rs429358-C	0.7344	3E-11	(Case/control)	0.4905	[0.35-0.63] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45411940	45411941	rs429358	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	19q13.32	APOE, LOC100129500	rs429358-C	0.732	1E-12	(Ordinal I)	0.4997	[0.36-0.64] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45411940	45411941	rs429358	25027320	Ramirez A	2014-07-15	Hum Mol Genet	SUCLG2 identified as both a determinator of CSF Ass1-42-levels and an attenuator of cognitive decline in Alzheimer's disease.	Cerebrospinal AB1-42 levels in Alzheimer's disease dementia	363 European ancestry individuals	515 individuals	19q13.32	APOE	rs429358-?	0.442	4E-17		0.4	[0.30-0.50] unit decrease	Illumina [6812394] (imputed)	N
931	chr19	45411940	45411941	rs429358	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	19q13.32	APOE	rs429358-C	0.28	5E-14	(Cortical Ab)			Illumina [6108668] (imputed)	N
931	chr19	45411940	45411941	rs429358	21123754	Kim S	2010-12-01	Neurology	Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.	Alzheimer's disease biomarkers	96 European ancestry Alzheimer disease cases, 176 European ancestry individuals with mild cognitive impairment, 102 European ancestry controls	NA	19q13.32	APOE	rs429358-?	NR	1E-6	(AB1-42, p-tau181p, p-tau181p/AB1-42, t-tau/AB1-42)			Illumina [322557]	N
931	chr19	45411940	45411941	rs429358	20100581	Shen L	2010-01-22	Neuroimage	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Brain imaging	175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls	NA	19q13.32	APOE	rs429358-?	NR		<1 x 10-6 (multiple phenotypes)			Illumina [530992]	N
931	chr19	45412078	45412079	rs7412	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	19q13.32	APOE	rs7412-C	0.93	8E-239		0.413	[0.39-0.44] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
931	chr19	45412078	45412079	rs7412	24023260	Wu Y	2013-09-10	J Lipid Res	Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.	Lipid traits	1,782 Filipino ancestry mothers	1,719 Filipino ancestry offsprings	19q13.32	APOE	rs7412-T	0.12	3E-53	(LDL-C)	0.48	[0.42-0.54] unit decrease	Affymetrix [~ 3700000] (imputed)	N
931	chr19	45412078	45412079	rs7412	24023260	Wu Y	2013-09-10	J Lipid Res	Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.	Lipid traits	1,782 Filipino ancestry mothers	1,719 Filipino ancestry offsprings	19q13.32	APOE	rs7412-T	0.12	2E-30	(TC)	0.09	[0.070-0.110] unit decrease	Affymetrix [~ 3700000] (imputed)	N
931	chr19	45412078	45412079	rs7412	23067351	Rasmussen-Torvik LJ	2012-08-23	Clin Transl Sci	High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE.	LDL cholesterol	1,249 African American individuals	NA	19q13.32	APOE	rs7412-?	0.10	2E-9		12.3	[8.4-16.3] mg/dL decrease	Illumina [910341]	N
931	chr19	45412078	45412079	rs7412	22331829	Chasman DI	2012-02-13	Circ Cardiovasc Genet	Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.	Response to statin therapy (LDL-C)	6,989 European ancestry individuals	NA	19q13.32	APOE	rs7412-?	NR	2E-47	(baseline LDL-C)	6.2	[5.42-6.98] mg/dL decrease	Illumina [814418]	N
931	chr19	45412078	45412079	rs7412	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	19q13.32	APOC2, APOE, APOC1	rs7412-?	NR	3E-58	(L-LDL-FC)	0.75	[0.65-0.85] unit decrease	Illumina [~ 7700000] (imputed)	N
931	chr19	45413232	45413233	rs1065853	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	19q13.32	APOE	rs1065853-G	0.93	5E-324		0.603	[0.58-0.63] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
931	chr19	45414450	45414451	rs439401	21386085	Kraja AT	2011-03-08	Diabetes	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	HDL Cholesterol - Triglycerides (HDLC-TG)	22,161 European ancestry individuals	NA	19q13.32	LOC100129500	rs439401-C	NR	1E-8		0.24	[0.16-0.32] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
931	chr19	45414450	45414451	rs439401	21123754	Kim S	2010-12-01	Neurology	Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.	Alzheimer's disease biomarkers	96 European ancestry Alzheimer disease cases, 176 European ancestry individuals with mild cognitive impairment, 102 European ancestry controls	NA	19q13.32	LOC100129500	rs439401-?	NR	1E-6	(AB1-42)			Illumina [322557]	N
931	chr19	45414450	45414451	rs439401	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	19q13.32	APOC2, APOE, APOC1	rs439401-T	0.36	1E-30		5.5	[4.64-6.36] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
931	chr19	45414450	45414451	rs439401	19060911	Aulchenko YS	2008-12-07	Nat Genet	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.	Triglycerides	17,100 European ancestry individuals, 715 Orcadian individuals	NA	19q13.32	APOE, TOMM40	rs439401-G	0.68	2E-9		0.09	[NR] s.d. increase	Affymetrix, Illumina [up to 600000]	N
931	chr19	45415639	45415640	rs445925	25350695	Postmus I	2014-10-28	Nat Commun	Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.	Response to statins (LDL cholesterol change)	18,596 European ancestry individuals	23,279 European ancestry individuals	19q13.32	APOE	rs445925-A	0.157	9E-29		0.051	[0.041-0.061] unit decrease	Affymetrix, Illumina, Perlegen [at least 2500000] (imputed)	N
931	chr19	45415639	45415640	rs445925	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	19q13.32	APOE	rs445925-A	0.08	5E-23	(X-11820/cholesterol)	0.089	[0.071-0.107] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
931	chr19	45415639	45415640	rs445925	23118302	Chu AY	2012-11-01	Circ Cardiovasc Genet	Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.	Lipoprotein-associated phospholipase A2 activity and mass	6,851 European ancestry individuals	13,664 European ancestry individuals	19q13.32	APOE, APOC1	rs445925-T	0.11	1E-56	(activity)	0.071	[0.049-0.093] ng/ml decrease	Illumina [796174]	N
931	chr19	45415639	45415640	rs445925	23031429	Surakka I	2012-10-03	Twin Res Hum Genet	A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.	Apolipoprotein Levels	1,720 European ancestry monozygotic twins	NA	19q13.32	APOE/APOC1	rs445925-G	NR	4E-11	(APOE)	0.229	[0.16-0.30] unit decrease	Illumina [~ 2500000] (imputed)	N
931	chr19	45415639	45415640	rs445925	23031429	Surakka I	2012-10-03	Twin Res Hum Genet	A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.	Apolipoprotein Levels	1,720 European ancestry monozygotic twins	NA	19q13.32	APOE, APOC1	rs445925-G	NR	2E-14	(APOB)	0.149	[0.11-0.19] unit increase	Illumina [~ 2500000] (imputed)	N
931	chr19	45415639	45415640	rs445925	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	19q13.32	APOEC1, APOEC2, APOE	rs445925-?	0.06	6E-42				Illumina [~ 2000000] (imputed)	N
931	chr19	45415639	45415640	rs445925	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	19q13.32	APOC1	rs445925-G	0.89	4E-6	(plaque)	1.22	[1.12-1.32]	Affymetrix, Illumina [~ 2500000] (imputed)	N
931	chr19	45415639	45415640	rs445925	21909108	Bis JC	2011-09-11	Nat Genet	Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.	Carotid intima media thickness	Up to 31,211 European ancestry individuals	10,553 European ancestry individuals, 687 Orcadian individuals	19q13.32	APOC1	rs445925-A	0.11	2E-8	(cIMT)	0.0156	[0.01-0.03] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
931	chr19	45415639	45415640	rs445925	20838585	Smith EN	2010-09-09	PLoS Genet	Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.	Cardiovascular disease risk factors	525 European ancestry individuals	2,265 European ancestry individuals	19q13.32	APOE	rs445925-G	NR	9E-19	(LDL-cholesterol)	11.96	[9.33-14.59] % SD increase	Illumina [545821]	N
931	chr19	45416740	45416741	rs438811	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	19q13.32	APOE	rs438811-T	0.24	9E-37		0.096	[0.08-0.112] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
931	chr19	45422586	45422587	rs12721054	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	Triglycerides	7,601 African American individuals, 3,335 Hispanic individuals	7,138 African American individuals	19q13.32	APOC1	rs12721054-G	0.1137	3E-19	(AA)	0.101	[NR] unit decrease	Affymetrix [NR]	N
931	chr19	45422845	45422846	rs56131196	23419831	Ramanan VK	2013-02-19	Mol Psychiatry	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	Alzheimer's disease biomarkers	555 European ancestry individuals	NA	19q13.32	APOC1	rs56131196-A	0.29	4E-12	(Cortical Ab)			Illumina [6108668] (imputed)	N
931	chr19	45422945	45422946	rs4420638	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	19q13.32	APOC1, APOE	rs4420638-G	0.18	6E-13	(ALL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45422945	45422946	rs4420638	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	19q13.32	APOC1, APOE	rs4420638-G	0.18	2E-12	(ALL-dr)			Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45422945	45422946	rs4420638	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	19q13.32	APOC1, APOE	rs4420638-G	0.18	1E-16	(PAR-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45422945	45422946	rs4420638	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	19q13.32	APOC1, APOE	rs4420638-G	0.18	1E-16	(PAR-dr)			Affymetrix, Illumina [NR] (imputed)	N
931	chr19	45422945	45422946	rs4420638	24688116	Deelen J	2014-03-31	Hum Mol Genet	Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.	Longevity (90 years and older)	5,406 European ancestry cases, 15,112 European ancestry controls	7,330 European ancestry cases, 61,156 European ancestry controls	19q13.32	APOE	rs4420638-?	0.798	3E-36		1.39	[1.32-1.47]	Illumina [2470825] (imputed)	N
931	chr19	45422945	45422946	rs4420638	24688116	Deelen J	2014-03-31	Hum Mol Genet	Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.	Longevity (85 years and older)	7,729 European ancestry cases, 16,121 European ancestry controls	13,060 European ancestry cases, 61,156 European ancestry controls	19q13.32	APOE	rs4420638-?	0.798	2E-26		1.22	[1.18-1.27]	Illumina [2480356] (imputed)	N
931	chr19	45422945	45422946	rs4420638	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	19q13.32	APOE	rs4420638-G	0.19	2E-178		0.225	[NR] unit increase	NR [NR] (imputed)	N
931	chr19	45422945	45422946	rs4420638	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	19q13.32	APOE	rs4420638-G	0.19	2E-21		0.067	[NR] unit decrease	NR [NR] (imputed)	N
931	chr19	45422945	45422946	rs4420638	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	19q13.32	APOE	rs4420638-G	0.19	1E-149		0.197	[NR] unit increase	NR [NR] (imputed)	N
931	chr19	45422945	45422946	rs4420638	24023261	Keller M	2013-09-10	J Lipid Res	THOC5: a novel gene involved in HDL-cholesterol metabolism.	Lipid traits	839 European ancestry individuals	up to 5,248 European ancestry individuals	19q13.32	APOC1	rs4420638-G	0.17	1E-14	(LDL-C)	0.25	unit increase	Affymetrix [390619]	N
931	chr19	45422945	45422946	rs4420638	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	19q13.32	APOE	rs4420638-A	0.83	2E-20		1.3	[1.24-1.36]	Affymetrix, Illumina [2442884] (imputed)	N
931	chr19	45422945	45422946	rs4420638	22832961	Kamboh MI	2012-05-15	Transl Psychiatry	Genome-wide association study of Alzheimer's disease.	Alzheimer's disease	1,291 European ancestry cases, 938 European ancestry controls	509 European ancestry cases, 753 European ancestry controls, 2,218 cases, 2,583 controls	19q13.32	APOE, TOMM40, APOC1	rs4420638-?	NR	8E-149		3.45	[NR]	Illumina [2543888] (imputed)	N
931	chr19	45422945	45422946	rs4420638	22054870	De Jager PL	2011-11-03	Neurobiol Aging	A genome-wide scan for common variants affecting the rate of age-related cognitive decline.	Cognitive decline	749 European ancestry individuals	1,562 European ancestry individuals, 717 cases	19q13.32	APOE, TOMM40	rs4420638-?	NR	4E-27				Affymetrix [672266]	N
931	chr19	45422945	45422946	rs4420638	22005931	Kamboh MI	2011-10-18	Mol Psychiatry	Genome-wide association analysis of age-at-onset in Alzheimer's disease.	Alzheimer's disease (age of onset)	1,190 European ancestry cases, 1,032 cases	NA	19q13.32	APOE, TOMM40, APOC1, PVRL2	rs4420638-?	NR	1E-12		2.2018	unit increase	Illumina [2543888] (imputed)	N
931	chr19	45422945	45422946	rs4420638	22003152	Grallert H	2011-10-14	Eur Heart J	Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.	Lipoprotein-associated phospholipase A2 activity and mass	12,126 European ancestry individuals, 1,538 individuals	NA	19q13.32	APOC1	rs4420638-A	0.84	5E-30	(Activity concentrations)	0.054	[0.044-0.064] unit decrease	Affymetrix, Illumina [2661766] (imputed)	N
931	chr19	45422945	45422946	rs4420638	21740922	Nebel A	2011-06-29	Mech Ageing Dev	A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals.	Longevity	763 European ancestry individuals, 1,058 European ancestry individuals	754 European ancestry individuals, 860 European ancestry individuals	19q13.32	APOC1	rs4420638-?	0.81	2E-16				Affymetrix [664472]	N
931	chr19	45422945	45422946	rs4420638	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	19q13.32	APOC1	rs4420638-A	NR	9E-139		0.236	[0.22-0.26] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
931	chr19	45422945	45422946	rs4420638	21196492	Okada Y	2010-12-31	Hum Mol Genet	Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.	C-reactive protein	10,112 Japanese ancestry individuals	2,742 Japanese ancestry individuals	19q13.32	APOE-CI-CII cluster	rs4420638-A	0.90	3E-7		0.136	[0.09-0.19] unit increase	Illumina [477784]	N
931	chr19	45422945	45422946	rs4420638	20864672	Waterworth DM	2010-09-23	Arterioscler Thromb Vasc Biol	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	LDL cholesterol	up to 17,723 European ancestry individuals	up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals	19q13.32	APOC2, APOE, APOC4, APOC1	rs4420638-G	0.18	2E-40		0.06	[0.05-0.07] unit increase	Affymetrix, Illumina, Perlegen [2155369] (imputed)	N
931	chr19	45422945	45422946	rs4420638	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	19q13.32	APOC2, APOE, APOC1	rs4420638-G	0.17	9E-147		7.14	[6.57-7.71] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
931	chr19	45422945	45422946	rs4420638	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	19q13.32	APOC2, APOE, APOC1	rs4420638-G	0.17	4E-21		1.06	[0.82-1.3] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
931	chr19	45422945	45422946	rs4420638	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	19q13.32	APOC2, APOE, APOC1	rs4420638-G	0.17	5E-111		6.83	[6.2-7.46] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
931	chr19	45422945	45422946	rs4420638	20442857	Suchindran S	2010-04-29	PLoS Genet	Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.	Lipoprotein-associated phospholipase A2 activity and mass	6,668 European ancestry individuals	NA	19q13.32	APOC1	rs4420638-G	0.16	6E-24	(activity)	8.0	[NR] nmol/ml/min increase	Affymetrix [360811]	N
931	chr19	45422945	45422946	rs4420638	19567438	Elliott P	2009-07-01	JAMA	Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.	C-reactive protein	17,967 European ancestry and Indian Asian ancestry individuals	13,615 European ancestry and Indian Asian ancestry Individuals	19q13.32	APOE, APOCII, APOC1	rs4420638-G	NR	5E-27		21.8	[18.1-25.3] % decrease	Affymetrix, Illumina, Perlegen [~ 1400000] (imputed)	N
931	chr19	45422945	45422946	rs4420638	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	19q13.32	APOC2, APOE, APOC4, TOMM40, APOC1	rs4420638-G	0.21	5E-6	(TG)	0.22	[NR] mg/dL increase	Affymetrix [408775]	N
931	chr19	45422945	45422946	rs4420638	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	19q13.32	APOC2, APOE, APOC4, TOMM40, APOC1	rs4420638-G	0.21	3E-7	(TC)	0.28	[NR] mg/dL increase	Affymetrix [408775]	N
931	chr19	45422945	45422946	rs4420638	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	19q13.32	APOC2, APOE, APOC4, TOMM40, APOC1	rs4420638-G	0.21	2E-6	(CRP)	0.28	[NR] mg/L decrease	Affymetrix [408775]	N
931	chr19	45422945	45422946	rs4420638	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	19q13.32	APOC2, APOE, APOC4, APOC1	rs4420638-G	0.16	4E-27		0.29	[0.17-0.41] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
931	chr19	45422945	45422946	rs4420638	18802019	Burkhardt R	2008-09-18	Arterioscler Thromb Vasc Biol	Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.	LDL cholesterol	2,346 Micronesian ancestry individuals	NA	19q13.32	APOC2, APOE, APOC4, APOC1	rs4420638-?	NR	2E-7				Affymetrix [~ 500000]	N
931	chr19	45422945	45422946	rs4420638	18262040	Sandhu MS	2008-02-09	Lancet	LDL-cholesterol concentrations: a genome-wide association study.	LDL cholesterol	11,685 European ancestry individuals	Up to 4,979 European ancestry individuals	19q13.32	APOC1	rs4420638-G	0.18	1E-20		0.06	[0.04-0.08] mmol/L increase	Affymetrix, Illumina [up to 461986]	N
931	chr19	45422945	45422946	rs4420638	18193044	Kathiresan S DUP	2008-01-13	Nat Genet	Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.	LDL cholesterol	2,758 European ancestry individuals	18,544 European ancestry individuals	19q13.32	APOC2, APOE, APOC4, APOC1	rs4420638-G	0.2	1E-60		0.19	[0.15-0.23] percentage SD increase	Affymetrix [389878]	N
931	chr19	45422945	45422946	rs4420638	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	19q13.32	APOE, APOC4, APOC1	rs4420638-G	0.18	3E-43		6.61	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
931	chr19	45422945	45422946	rs4420638	17998437	Li H	2007-11-12	Arch Neurol	Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.	Alzheimer's disease	753 European ancestry cases, 736 European ancestry controls	418 European ancestry cases, 249 European ancestry controls	19q13.32	APOE, APOC1	rs4420638-?	NR	2E-44				Affymetrix [469438]	N
931	chr19	45422945	45422946	rs4420638	17975299	Webster JA	2007-11-01	Neurodegener Dis	Sorl1 as an Alzheimer's disease predisposition gene?	Alzheimer's disease	664 cases, 422 controls	NA	19q13.32	APOE	rs4420638-?	NR	1E-39				Affymetrix [~ 502627]	N
931	chr19	45422945	45422946	rs4420638	17474819	Coon KD	2007-04-01	J Clin Psychiatry	A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	664 European ancestry cases, 422 European ancestry controls	NA	19q13.32	APOE	rs4420638-?	NR	1E-39		4.01	[NR]	Affymetrix [~ 502627]	N
931	chr19	45422945	45422946	rs4420638	17463246	Saxena R	2007-04-26	Science	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Triglycerides	Up to 5,217 European ancestry individuals	NA	19q13.32	APOE cluster	rs4420638-G	0.22	3E-13	(LDL)	2.4	% variance	Affymetrix [386731]	N
931	chr19	45432556	45432557	rs7259004	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Sphingolipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	19q13.32	APOE	rs7259004-C	0.119	2E-10	(Sphingomyeline C24:0)	0.0906	[0.063-0.119] unit decrease	Affymetrix, Illumina [up to 296619] (imputed)	N
931	chr19	45432556	45432557	rs7259004	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	19q13.32	APOE-C1, APOE-C2, APOE-C4	rs7259004-?	NR	5E-10	(levels)	0.0	[0.80-1.0] % increase	Illumina [NR] (imputed)	N
931	chr19	45449198	45449199	rs2288912	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	19q13.32	APOC2, CLPTM1, APOE, APOC4	rs2288912-C	NR	4E-6		4.617	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
933	chr19	45695737	45695738	rs2159324	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	19q13.32	MGC2650, BLOC1S3, XTP7	rs2159324-T	0.44	4E-7	(LDL-C)	0.21	[NR] mg/dL decrease	Affymetrix [408775]	N
933	chr19	45695737	45695738	rs2159324	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	19q13.32	MGC2650, BLOC1S3, XTP7	rs2159324-T	0.44	2E-6	(CRP)	0.19	[NR] mg/L decrease	Affymetrix [408775]	N
933	chr19	45740770	45740771	rs17356664	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	19q13.32	EXOC3L2	rs17356664-C	NR	4E-10		2.599	[1.79-3.41] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
934	chr19	45821182	45821183	rs11559024	25214527	Dube MP	2014-09-11	Circ Cardiovasc Genet	CKM and LILRB5 Are Associated with Serum Levels of Creatine Kinase.	Creatine kinase in statin users	3,412 European ancestry individuals	3,389 European ancestry individuals	19q13.32	CKM	rs11559024-G	0.010	4E-16		0.501	[0.38-0.62] unit decrease	Illumina [3232779] (imputed)	N
934	chr19	45854918	45854919	rs13181	23108145	Wang LE	2012-10-29	Cancer Res	Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer.	Lung Cancer (DNA repair capacity)	914 European ancestry non-small cell lung cancer cases, 860 European ancestry controls	679 European ancestry ancestry non-small cell lung cancer cases, 695 European ancestry controls	19q13.32	ERCC2, XPD	rs13181-C	0.3613	9E-7				Illumina [303669]	N
936	chr19	46034557	46034558	rs8111589	22064162	Edwards AC	2011-11-05	Psychiatr Genet	Genome-wide association study of comorbid depressive syndrome and alcohol dependence.	Depression and alcohol dependence	467 European ancestry cases, 407 European ancestry controls	NA	19q13.32	OPA3	rs8111589-?	NR	4E-6		1.64	[1.33-2.03]	Illumina [876476]	N
937	chr19	46158512	46158513	rs8108269	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	19q13.32	GIPR	rs8108269-G	0.3	5E-6		1.06	[1.02-1.11]	Affymetrix, Illumina [2500000] (imputed)	N
937	chr19	46172277	46172278	rs11671664	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	19q13.32	GIPR, QPCTL	rs11671664-G	0.49	3E-12		0.0406	[0.029-0.052] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
937	chr19	46172277	46172278	rs11671664	22344221	Okada Y	2012-02-19	Nat Genet	Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.	Body mass index	26,620 Japanese ancestry individuals	35,625 East Asian ancestry individuals	19q13.32	GIPR	rs11671664-G	0.45	7E-14		0.046	[0.034-0.058] unit increase	Illumina [2178018] (imputed)	N
937	chr19	46172277	46172278	rs11671664	22344219	Wen W	2012-02-19	Nat Genet	Meta-analysis identifies common variants associated with body mass index in east Asians.	Body mass index	22,762 East Asian ancestry individuals, 2,522 Malay ancestry individuals, 2,431 Chinese, Malay and Asian Indian ancestry individuals	53,215 East Asian ancestry results, 2,118 Malay ancestry individuals	19q13.32	GIPR, QPCTL	rs11671664-G	0.50	6E-14		4.22	[2.73-5.71] % increase	Affymetrix, Illumina [2474474] (imputed)	N
937	chr19	46181391	46181392	rs1800437	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	19q13.32	GIPR	rs1800437-G	0.78	3E-14	(Obesity class I)	1.1	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
937	chr19	46182303	46182304	rs10423928	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	19q13.32	GIPR	rs10423928-T	0.77	4E-13	(Obesity class II)	1.16	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
937	chr19	46182303	46182304	rs10423928	20081857	Saxena R	2010-01-17	Nat Genet	Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.	Two-hour glucose challenge	15,234 individuals	up to 30,620 European ancestry individuals	19q13.32	GIPR	rs10423928-A	NR	3E-12		0.09	[0.07-0.11] mmol/L increase	Affymetrix, Illumina [NR]	N
937	chr19	46195755	46195756	rs7245708	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	19q13.32	FBXO46, QPTCL, EML2, SNRPD2, GIPR	rs7245708-C	0.04	2E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
937	chr19	46195755	46195756	rs7245708	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	19q13.32	FBXO46, EML2, SNRPD2, GIPR, QPCTL	rs7245708-C	0.04	1E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
937	chr19	46202171	46202172	rs2287019	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	QPCTL	rs2287019-C	0.806	2E-18		0.035	[0.028-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
937	chr19	46202171	46202172	rs2287019	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	QPCTL	rs2287019-C	0.804	9E-10	(EA, women)	0.032	[0.022-0.043] kg/m2 increase	Affymetrix, Illumina [2550021]	N
937	chr19	46202171	46202172	rs2287019	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	QPCTL	rs2287019-C	0.804	5E-18	(EA)	0.036	[0.028-0.044] kg/m2 increase	Affymetrix, Illumina [2550021]	N
937	chr19	46202171	46202172	rs2287019	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	QPCTL	rs2287019-C	0.804	3E-12	(EA, men)	0.039	[0.028-0.049] kg/m2 increase	Affymetrix, Illumina [2550021]	N
937	chr19	46202171	46202172	rs2287019	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	19q13.32	GIPR, QPCTL	rs2287019-C	0.80	2E-16		0.15	[0.09-0.21] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
938	chr19	46307405	46307406	rs8111071	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	19q13.32	RSHL1	rs8111071-?	0.09	4E-6	(Recessive)	2.01	[1.50-2.70]	Affymetrix [319222]	N
942	chr19	46800432	46800433	rs3826795	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	19q13.32	HIF3A	rs3826795-?		3E-6	(Hispanic)	12.8	[NR]	Illumina [936149]	N
942	chr19	46849805	46849806	rs4802307	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.32	NR	rs4802307-C	0.7	2E-8	(EA)	1.0630091		Affymetrix, Illumina [~ 9000000] (imputed)	N
942	chr19	46849805	46849806	rs4802307	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.32	NR	rs4802307-A	0.7	9E-12	(EA)	1.0939962		Affymetrix, Illumina [~ 9000000] (imputed)	N
942	chr19	46849805	46849806	rs4802307	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	19q13.32	intergenic	rs4802307-G	0.706	2E-10		1.099	[1.06-1.139]	Affymetrix, Illumina [1230000] (imputed)	N
943	chr19	46974002	46974003	rs7248888	24743840	Figueiredo JC	2014-04-17	PLoS Genet	Genome-wide diet-gene interaction analyses for risk of colorectal cancer.	Colorectal cancer (diet interaction)	9,287 European ancestry cases, 9,117 European ancestry controls	NA	19q13.32	PNMAL1	rs7248888-?	0.93-0.97	5E-6	(Fruit)	1.37	[1.19-1.56]	Affymetrix, Illumina [> 2700000] (imputed)	N
944	chr19	47119909	47119910	rs11083840	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.32	NR	rs11083840-C	0.4025	3E-8	(EA)	1.0715772	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
944	chr19	47119909	47119910	rs11083840	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.32	NR	rs11083840-C	0.4025	2E-6	(EA)	1.0484828	[1.03-1.07]	Affymetrix, Illumina [~ 9000000] (imputed)	N
944	chr19	47123782	47123783	rs1126510	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	19q13.32	CALM3	rs1126510-G	0.363	2E-9		1.075	[1.037-1.113]	Affymetrix, Illumina [1230000] (imputed)	N
945	chr19	47207653	47207654	rs11083846	18758461	Di Bernardo MC	2008-08-31	Nat Genet	A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	505 European ancestry cases, 1,438 European ancestry controls	1,024 European ancestry cases, 1,677 European ancestry controls	19q13.32	PRKD2, STRN4	rs11083846-A	0.22	4E-9		1.35	[1.22-1.49]	Illumina [345665]	N
945	chr19	47208480	47208481	rs425105	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	19q13.32	intergenic	rs425105-?	0.84	3E-11		1.16	[1.08-1.27]	Affymetrix, Illumina [841622] (imputed)	N
947	chr19	47483921	47483922	rs10164289	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	19q13.32	GRLF1	rs10164289-?		7E-6				NR [~ 3000000] (imputed)	N
947	chr19	47569002	47569003	rs3810291	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	ZC3H4	rs3810291-A	0.667	7E-9	(EA, men)	0.028	[0.018-0.037] kg/m2 increase	Affymetrix, Illumina [2550021]	N
947	chr19	47569002	47569003	rs3810291	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	ZC3H4	rs3810291-A	0.666	5E-15	(EA)	0.028	[0.021-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
947	chr19	47569002	47569003	rs3810291	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	ZC3H4	rs3810291-A	0.666	3E-10	(EA, women)	0.03	[0.02-0.039] kg/m2 increase	Affymetrix, Illumina [2550021]	N
947	chr19	47569002	47569003	rs3810291	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	19q13.32	ZC3H4	rs3810291-A	0.654	6E-16		0.029	[0.022-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
947	chr19	47569002	47569003	rs3810291	24861553	Wen W	2014-05-26	Hum Mol Genet	Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.	Body mass index	82,438 East Asian ancestry individuals, 4,301 South East Asian ancestry individuals	Up to 47,352 East Asian ancestry individuals	19q13.32	TMEM160	rs3810291-A	0.24	9E-7		0.0333	[0.02-0.047] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
947	chr19	47569002	47569003	rs3810291	20935630	Speliotes EK	2010-10-10	Nat Genet	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Body mass index	Up to 123,865 European ancestry individuals	Up to 125,931 European ancestry individuals	19q13.32	TMEM160, ZC3H4	rs3810291-A	0.67	2E-12		0.09	[0.05-0.13] kg/m2 increase	Affymetrix, Illumina, Perlegen [~ 2800000] (imputed)	N
947	chr19	47575715	47575716	rs3745618	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.32	ZC3H4	rs3745618-A	0.06	2E-6	(Free T3 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
948	chr19	47661492	47661493	rs307896	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	19q13.32	SAE1	rs307896-G	NR	5E-7		1.09	[1.08-1.11]	Illumina [465434]	N
949	chr19	47796799	47796800	rs7254232	25008200	Feng P	2014-07-09	BMC Oral Health	Genome wide association scan for chronic periodontitis implicates novel locus.	Chronic periodontitis	63 European ancestry cases, 543 European ancestry controls, up to 32 African American cases, up to 158 African American controls, up to 4 cases, up to 66 controls	495 European ancestry cases, 981 European ancestry controls, 118 African ancestry cases, 225 African ancestry controls	19q13.32	C5AR1	rs7254232-?	NR	3E-6				Illumina [473514]	N
952	chr19	48205724	48205725	rs3745760	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 susceptibility	496 African ancestry cases and 302 African ancestry exposed controls from serodiscordant couples	NA	19q13.33	GLTSCR1	rs3745760-?	NR	8E-7				Illumina [990115]	N
953	chr19	48348362	48348363	rs11668505	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	19q13.33	NR	rs11668505-?		2E-6	(AA)			Illumina [up to 524000]	N
953	chr19	48365522	48365523	rs296396	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.33	SULT2A1	rs296396-T	0.17	1E-92	(4-androsten-3beta,17beta-diol disulfate 1)	0.175	[0.16-0.19] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
953	chr19	48365522	48365523	rs296396	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.33	SULT2A1	rs296396-T	0.16	1E-12	(dehydroisoandrosterone sulfate (DHEA-S))	0.046	[0.032-0.06] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
954	chr19	48371101	48371102	rs296381	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.33	SULT2A1	rs296381-T	0.83	5E-143	(X-11440)	0.164	[0.15-0.18] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
954	chr19	48371101	48371102	rs296381	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.33	SULT2A1	rs296381-T	0.83	1E-10	(X-13429)	0.053	[0.037-0.069] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
954	chr19	48372194	48372195	rs182420	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.33	SULT2A1	rs182420-T	0.76	6E-12	(androsterone sulfate)	0.051	[0.037-0.065] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
954	chr19	48385056	48385057	rs2547231	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	19q13.33	SULT2A1	rs2547231-A	0.83	3E-191	(X-11440/4-androsten-3beta,17beta-diol disulfate 2)	0.141	[0.13-0.15] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
954	chr19	48385056	48385057	rs2547231	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.33	SULT2A1	rs2547231-A	0.83	4E-16	(X-12850)	0.059	[0.045-0.073] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
954	chr19	48385056	48385057	rs2547231	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.33	SULT2A1	rs2547231-A	0.83	3E-22	(5alpha-androstan-3beta,17beta-diol disulfate)	0.081	[0.065-0.097] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
954	chr19	48385056	48385057	rs2547231	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.33	SULT2A1	rs2547231-A	0.83	3E-11	(X-12456)	0.041	[0.029-0.053] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
954	chr19	48401892	48401893	rs2637125	26014426	Ruth KS	2015-05-27	Eur J Hum Genet	Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.	Sex hormone levels	up to 2913 European ancestry individuals	NA	19q13.33	SULT2A1	rs2637125-?	NR	2E-6	(DHEAS)	0.089	[NR] unit increase	Illumina [7879351] (imputed)	N
954	chr19	48401892	48401893	rs2637125	21533175	Zhai G	2011-04-14	PLoS Genet	Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.	Dehydroepiandrosterone sulphate levels	14,846 European ancestry individuals	NA	19q13.33	SULT2A1	rs2637125-A	0.15	3E-19		0.09	[0.07-0.11] umol/L decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
955	chr19	48522868	48522869	rs3815908	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	19q13.33	ELSPBP1	rs3815908-?,rs2303690-?,rs3936340-?,rs2560966-?	NR	3E-8				Illumina [795637]	N
955	chr19	48525506	48525507	rs2303690	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	19q13.33	ELSPBP1	rs3815908-?,rs2303690-?,rs3936340-?,rs2560966-?	NR	3E-8				Illumina [795637]	N
955	chr19	48527581	48527582	rs3936340	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	19q13.33	ELSPBP1	rs3936340-?	NR	2E-6	(High intelligence)	6.8	[4.06-9.54] unit increase	Illumina [795637]	N
955	chr19	48527581	48527582	rs3936340	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	19q13.33	ELSPBP1	rs3815908-?,rs2303690-?,rs3936340-?,rs2560966-?	NR	3E-8				Illumina [795637]	N
955	chr19	48531215	48531216	rs2560966	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	19q13.33	ELSPBP1	rs3815908-?,rs2303690-?,rs3936340-?,rs2560966-?	NR	3E-8				Illumina [795637]	N
959	chr19	49095277	49095278	rs3786749	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19q13.33	SULT2B1	rs3786749-?		1E-10				Illumina [709211] (imputed)	N
959	chr19	49117103	49117104	rs433852	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19q13.33	FAM83E	rs433852-?		5E-8				Illumina [709211] (imputed)	N
959	chr19	49118370	49118371	rs2292342	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19q13.33	RPL18	rs2292342-?		7E-12				Illumina [709211] (imputed)	N
959	chr19	49136650	49136651	rs12608544	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19q13.33	DBP	rs12608544-?		2E-12				Illumina [709211] (imputed)	N
959	chr19	49144789	49144790	rs11880333	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19q13.33	CA11	rs11880333-?		5E-12				Illumina [709211] (imputed)	N
960	chr19	49152954	49152955	rs8111500	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19q13.33	intergenic	rs8111500-?	NR	4E-9				Illumina [709211] (imputed)	N
960	chr19	49206171	49206172	rs516246	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.33	NR	rs516246-A	0.4652	1E-13	(EA)	1.0784879	[1.06-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
960	chr19	49206171	49206172	rs516246	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.33	NR	rs516246-A	0.4652	1E-20	(EA)	1.1213977	[1.1-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
960	chr19	49206171	49206172	rs516246	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.33	FUT2	rs516246-A	0.272	2E-6	(Vitamin B12 )	0.03	[NR] pmol/L increase	Illumina [899892]	N
960	chr19	49206171	49206172	rs516246	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	19q13.33	FUT2, SPHK2, IZUMO1, DBP	rs516246-T	0.483	1E-15		1.107	[1.071-1.143]	Affymetrix, Illumina [1230000] (imputed)	N
960	chr19	49206171	49206172	rs516246	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	19q13.33	FUT2	rs516246-T	0.47	8E-10		2.3	[1.80-2.90] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
960	chr19	49206416	49206417	rs492602	25147783	Keene KL	2014-08-06	Front Public Health	Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.	Vitamin B levels in ischemic stroke	1,725 European ancestry cases, 258 African ancestry cases, 117 cases	NA	19q13.33	FUT2	rs492602-C	0.482	2E-7	(Vitamin B12)	0.143	[NR] unit increase	Illumina [737081]	N
960	chr19	49206416	49206417	rs492602	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	19q13.33	FLJ36070	rs492602-G	0.47	1E-16		0.031	[NR] unit increase	NR [NR] (imputed)	N
960	chr19	49206416	49206417	rs492602	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	19q13.33	FUT2, FLJ36070	rs492602-G	0.49	2E-10		1.27	[0.86-1.68] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
960	chr19	49206416	49206417	rs492602	18776911	Hazra A	2008-09-07	Nat Genet	Common variants of FUT2 are associated with plasma vitamin B12 levels.	Vitamin B12 levels	1,658 European ancestry female individuals	1,059 European ancestry female individuals	19q13.33	FUT2	rs492602-G	0.49	5E-17		0.09	[0.07-0.11] pg/ml decrease	Illumina [528134]	N
960	chr19	49206602	49206603	rs281377	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	19q13.33	FUT2	rs281377-T	0.43	1E-15		1.8	[0.80-2.80] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
960	chr19	49206630	49206631	rs1047781	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	19q13.33	FUT2	rs1047781-C	NR	4E-8		1.183432	[1.15-1.22]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
960	chr19	49206630	49206631	rs1047781	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19q13.33	FUT2	rs1047781-?		1E-56				Illumina [709211] (imputed)	N
960	chr19	49206630	49206631	rs1047781	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	19q13.33	FUT2, CA11	rs1047781-T	0.46	8E-176	(CA19-9)	0.444	[0.41-0.48] U/ml increase	Affymetrix, Illumina [NR] (imputed)	N
960	chr19	49206630	49206631	rs1047781	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	19q13.33	FUT2	rs1047781-T	0.46	6E-209	(CEA)	0.238	[0.21-0.26] ng/ml increase	Affymetrix, Illumina [NR] (imputed)	N
960	chr19	49206630	49206631	rs1047781	22367966	Lin X	2012-02-24	Hum Mol Genet	Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.	Vitamin B12 levels	1,999 Han Chinese ancestry individuals	1,496 Chinese ancestry individuals	19q13.33	FUT2	rs1047781-?	NR	4E-36		70.21	[59.37-81.05] pg/ml increase	Illumina [1940245] (imputed)	N
960	chr19	49206673	49206674	rs601338	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	19q13.33	FUT2	rs601338-A	0.43	2E-20	(ADSGEGDFXAEGGGVR/ADpSGEGDFXAEGGGVR)	0.055	[0.043-0.067] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
960	chr19	49206673	49206674	rs601338	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.33	FUT2	rs601338-A	0.43	3E-11	(ADpSGEGDFXAEGGGVR)	0.041	[0.029-0.053] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
960	chr19	49206984	49206985	rs602662	19744961	Hazra A	2009-09-10	Hum Mol Genet	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	Folate pathway vitamin levels	3,305 European ancestry females, 1,458 European ancestry males	NA	19q13.33	FUT2	rs602662-?	0.44	2E-15	(Plasma Vitamin B12)	0.07	[0.050-0.090] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
960	chr19	49206984	49206985	rs602662	19303062	Tanaka T	2009-03-18	Am J Hum Genet	Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.	Folate pathway vitamin levels	2,934 European ancestry individuals	686 European ancestry individuals	19q13.33	FUT2	rs602662-A	0.53	3E-20	(vitamin B12)	49.77	[37.09-62.45] pg/ml increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
960	chr19	49208864	49208865	rs504963	20570966	McGovern DP	2010-06-22	Hum Mol Genet	Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.	Crohn's disease	896 European ancestry cases, 3,204 European ancestry controls	1,174 European ancestry cases, 357 European ancestry controls	19q13.33	FUT2	rs504963-A	0.431	2E-8				Illumina [304825]	N
960	chr19	49208977	49208978	rs632111	25028398	Weiss FU	2014-07-15	Gut	Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study.	Serum lipase activity	3,966 European ancestry individuals	1,444 European ancestry individuals	19q13.33	FUT2	rs632111-G	0.43	6E-9		0.04	[0.026-0.054] unit increase	Affymetrix [NR] (imputed)	N
960	chr19	49209009	49209010	rs503279	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	19q13.33	FUT2	rs503279-T	0.53	1E-13	(DSGEGDFXAEGGGVR/ADpSGEGDFXAEGGGVR)	0.045	[0.033-0.057] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
960	chr19	49209009	49209010	rs503279	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	19q13.33	FUT2	rs503279-C	0.464	4E-20	(SM-11 + 2 other traits)	0.129	[NR] unit increase	Affymetrix, Illumina [534665]	N
960	chr19	49214273	49214274	rs281379	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	7,161 European ancestry males, 6,879 European ancestry females	5,133 European ancestry males, 4,577 European ancestry females	19q13.33	MAMSTR	rs281379-G	0.52	5E-8	(Single Height-males)	0.07	[0.043-0.097] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
960	chr19	49214273	49214274	rs281379	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	19q13.33	FUT2, RASIP1	rs281379-A	0.487	7E-12		1.07	[1.04-1.11]	Affymetrix, Illumina [953241] (imputed)	N
960	chr19	49214469	49214470	rs281380	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	19q13.33	MAMSTR	rs281380-G	NR	2E-6	(Conditioned on rs2303759)	1.08	[1.07-1.09]	Illumina [465434]	N
960	chr19	49228271	49228272	rs2287921	25147783	Keene KL	2014-08-06	Front Public Health	Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.	Vitamin B levels in ischemic stroke	1,725 European ancestry cases, 258 African ancestry cases, 117 cases	NA	19q13.33	RASIP1	rs2287921-C	0.471	9E-7	(Vitamin B12)	0.14	[NR] unit increase	Illumina [737081]	N
960	chr19	49228271	49228272	rs2287921	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	19q13.33	FUT2	rs2287921-C	0.48	7E-19	(5.2825, Fucose)	0.37	[NR] unit increase	Illumina [713870] (imputed)	N
960	chr19	49228271	49228272	rs2287921	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	19q13.33	FUT2	rs2287921-C	0.48	3E-36	(5.2125, Fucose)	0.48	[NR] unit increase	Illumina [713870] (imputed)	N
960	chr19	49228271	49228272	rs2287921	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	19q13.33	FUT2	rs2287921-C	0.48	1E-12	(5.2275, Fucose)	0.3	[NR] unit increase	Illumina [713870] (imputed)	N
960	chr19	49228271	49228272	rs2287921	21926972	Sklar P	2011-09-18	Nat Genet	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.	Bipolar disorder	7,481 European ancestry cases, 9,250 European ancestry controls	4,496 European ancestry cases, 42,422 European ancestry controls	19q13.33	SPHK2, SEC1, RPL18, NTN5, FAM83E, DBP, FUT2, IZUMO1, FUT1, CA11, MAMSTR, FGF21, RASIP1	rs2287921-C	NR	3E-6		1.1	[NR]	Affymetrix, Illumina [2415422] (imputed)	N
960	chr19	49228271	49228272	rs2287921	21060863	Ikram MK	2010-10-28	PLoS Genet	Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.	Retinal vascular caliber	15,358 European ancestry individuals	6,652 European ancestry individuals	19q13.33	FUT2, IZUMO1, FUT1, CA11, FGF21, FLJ36070, RASIP1	rs2287921-T	0.47	2E-25	(Retinal venular caliber)	2.1	[1.71-2.49] um decrease	Affymetrix, Illumina [2194468] (imputed)	N
960	chr19	49233405	49233406	rs281408	24586186	Rueedi R	2014-02-20	PLoS Genet	Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.	Urinary metabolites (H-NMR features)	835 European ancestry individuals	601 Brazilian individuals	19q13.33	FUT2	rs281408-C	0.45	4E-32	(1.2575, Fucose)	0.42	[NR] unit increase	Illumina [713870] (imputed)	N
960	chr19	49241013	49241014	rs380743	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	19q13.33	RASIP1	rs380743-?	NR	4E-22	(Opposed)			Affymetrix, Illumina [~ 5200000]	N
960	chr19	49246865	49246866	rs838147	23636237	Tanaka T	2013-05-01	Am J Clin Nutr	Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.	Dietary macronutrient intake	37,537 European ancestry individuals	33,533 European ancestry individuals	19q13.33	NR	rs838147-A	0.48	7E-7	(Carbohydrate)	0.22	[0.14-0.3] % increase	Affymetrix, Illumina [2500000] (imputed)	N
960	chr19	49248729	49248730	rs838145	23636237	Tanaka T	2013-05-01	Am J Clin Nutr	Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.	Dietary macronutrient intake	37,537 European ancestry individuals	33,533 European ancestry individuals	19q13.33	FGF21	rs838145-G	0.46	4E-10	(Fat)	0.22	[0.14-0.3] % decrease	Affymetrix, Illumina [2500000] (imputed)	N
960	chr19	49248729	49248730	rs838145	23636237	Tanaka T	2013-05-01	Am J Clin Nutr	Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.	Dietary macronutrient intake	37,537 European ancestry individuals	33,533 European ancestry individuals	19q13.33	FGF21	rs838145-G	0.46	3E-7	(Carbohydrate)	0.23	[0.15-0.31] % increase	Affymetrix, Illumina [2500000] (imputed)	N
960	chr19	49254503	49254504	rs2071699	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	19q13.33	FUT1	rs2071699-?		3E-10				Illumina [709211] (imputed)	N
960	chr19	49259528	49259529	rs838133	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	19q13.33	FUT2	rs838133-A	0.45	7E-9		0.0422	[0.028-0.056] unit increase	Affymetrix, Illumina [2090256] (imputed)	N
960	chr19	49259528	49259529	rs838133	23372041	Chu AY	2013-01-30	Hum Mol Genet	Novel locus including FGF21 is associated with dietary macronutrient intake.	Dietary macronutrient intake	33,533 European ancestry individuuals	38,360 European ancestry individuuals	19q13.33	FUT2, IZUMO1, FUT1, FGF21, RASIP1	rs838133-A	0.45	8E-9	(Protein - model 2)	0.11	[0.071-0.149] percent decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
962	chr19	49497154	49497155	rs3764618	24049095	Chen Z	2013-09-18	J Med Genet	Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.	Follicule stimulating hormone	1,999 Han Chinese ancestry individuals	1,496 East Asian ancestry individuals	19q13.33	NR		0.08	4E-8	(FSH)			Illumina [709211]	N
965	chr19	49869050	49869051	rs2303759	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	19q13.33	DKKL1	rs2303759-C	NR	5E-9		1.11	[1.09-1.13]	Illumina [465434]	N
966	chr19	50000008	50000009	rs2280401	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	19q13.33	FCGRT, RPS11	rs2280401-A	0.16	7E-8	(Japanese)	0.05	[0.032-0.068] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
966	chr19	50000008	50000009	rs2280401	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	19q13.33	FCGRT, RPS11	rs2280401-A	0.16	3E-6		0.021	[0.012-0.030] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
966	chr19	50000008	50000009	rs2280401	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	19q13.33	FCGRT, RPS11	rs2280401-A	0.17	8E-7	(EA)	0.0121	[0.0074-0.0168] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
966	chr19	50000008	50000009	rs2280401	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum albumin level	Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals	NA	19q13.33	FCGRT, RPS11	rs2280401-A	0.17	6E-9		0.0134	[0.0089-0.0179] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
966	chr19	50000008	50000009	rs2280401	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	19q13.33	RPS11	rs2280401-A	0.17	9E-13	(ALB)	0.0293	[0.021-0.037] g/dL increase	Affymetrix [~ 2200000] (imputed)	N
966	chr19	50000008	50000009	rs2280401	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	19q13.33	FCGRT, RPL13A, RPS11, RCN3	rs2280401-A	0.16	3E-8	(TP)	0.107	[0.07-0.144] unit increase	Illumina [561583]	N
967	chr19	50091198	50091199	rs56873913	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	19q13.33	NR	rs56873913-T	NR	3E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
967	chr19	50091198	50091199	rs56873913	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	19q13.33	NOSIP, PRR12, PRRG2, RCN3, RRAS, SCAF1	rs56873913-T	0.766	5E-8		1.071	[1.045-1.098]	Affymetrix, Illumina [9005918] (imputed)	N
968	chr19	50223265	50223266	rs3810265	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	19q13.33	intergenic	rs3810265-?	0.07	4E-6				Affymetrix [253903]	N
968	chr19	50230326	50230327	rs8102150	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	19q13.33	CTB-33G10.1	rs8102150-?	0.028	7E-7	(S-DCT concentration, adjusted for CYP2C19)			Illumina [7537437] (imputed)	N
969	chr19	50338235	50338236	rs2017698	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	19q13.33	MED25	rs2017698-?	NR	1E-7		0.492	[0.31-0.67] unit increase	Illumina [> 2500000] (imputed)	N
971	chr19	50721073	50721074	rs4802666	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	19q13.33	MYH14	rs4802666-A	0.27	5E-6		0.13	[0.073-0.187] unit decrease	Affymetrix, Illumina [2552511] (imputed)	N
972	chr19	50778542	50778543	rs788338	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	19q13.33	MYH14	rs788338-?		2E-6	(SG)	0.17	[0.092-0.248] unit decrease	Illumina [693128]	N
973	chr19	50909764	50909765	rs2230245	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.33	POLD1	rs2230245-A	0.057	6E-6	(Urinary nitrogen )	0.04	[NR] g/d increase	Illumina [899892]	N
973	chr19	50926741	50926742	rs3745516	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	19q13.33	SPIB	rs3745516-A	0.23	2E-13		1.38	[1.32-1.44]	Illumina [507467]	N
973	chr19	50926741	50926742	rs3745516	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	19q13.33	SPIB	rs3745516-A	0.23	8E-11		1.46	[NR]	Illumina [276459]	N
974	chr19	51004753	51004754	rs1298062	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Age of smoking initiation	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	19q13.33	NR	rs1298062-?		7E-6				Illumina [1211988] (imputed)	N
975	chr19	51186080	51186081	rs12460584	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	19q13.33	SHANK1	rs12460584-?	NR	9E-6	(AUC)			NR [2092490]	N
976	chr19	51345567	51345568	rs2659051	25434496	Kim S	2014-11-27	Gene	Genetic variants at 1q32.1, 10q11.2 and 19q13.41 are associated with prostate-specific antigen for prostate cancer screening in two Korean population-based cohort studies.	Prostate-specific antigen levels	554 Korean ancestry individuals	1,575 Korean ancestry individuals	19q13.33	KLK3, KLK15	rs2659051-G	0.66	9E-21		0.2	[0.16-0.24] unit decrease	Affymetrix [2163106] (imputed)	N
976	chr19	51349089	51349090	rs266849	21160077	Gudmundsson J	2010-12-15	Sci Transl Med	Genetic correction of PSA values using sequence variants associated with PSA levels.	Serum prostate-specific antigen levels	7,538 European ancestry individuals	2,373 European ancestry individuals	19q13.33	NR	rs266849-A	0.83	6E-10				Illumina [304070]	N
976	chr19	51354596	51354597	rs2659124	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	19q13.33	KLK3	rs2659124-T	0.854	1E-13		1.18	[1.13-1.24]	Affymetrix [up to 19977088] (imputed)	N
976	chr19	51360839	51360840	rs62113212	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer aggressiveness	4,545 European ancestry cases	7,973 European ancestry cases	19q13.33	KLK3	rs62113212-T	0.061	6E-9		0.138	[0.091-0.185] unit increase	Illumina [1531807] (imputed)	N
976	chr19	51361756	51361757	rs17632542	24753544	Knipe DW	2014-04-21	Cancer Epidemiol Biomarkers Prev	Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.	Prostate cancer	1,146 European ancestry cases, 1,804 European ancestry controls	1,854 European ancestry cases, 1,437 European ancestry controls	19q13.33	KLK3	rs17632542-T		2E-28		0.73	[0.60-0.86] unit increase	Illumina [514432] (imputed)	N
976	chr19	51361756	51361757	rs17632542	24740154	Lange EM	2014-04-16	PLoS One	Genome-wide association scan for variants associated with early-onset prostate cancer.	Prostate cancer (early onset)	931 European ancestry cases, 4,120 European ancestry controls	2,571 European ancestry cases, 921 European ancestry controls	19q13.33	KLK3	rs17632542-T	0.92	1E-7		1.85	[1.61-2.09]	Illumina [2639562] (imputed)	N
976	chr19	51361756	51361757	rs17632542	21160077	Gudmundsson J	2010-12-15	Sci Transl Med	Genetic correction of PSA values using sequence variants associated with PSA levels.	Serum prostate-specific antigen levels	7,538 European ancestry individuals	2,373 European ancestry individuals	19q13.33	KLK3	rs17632542-T	0.91	3E-46		39.1	[NR] % increase	Illumina [304070]	N
976	chr19	51363397	51363398	rs1058205	24919509	Terao C	2014-06-11	J Med Genet	A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population.	Prostate-specific antigen levels	1,086 Japanese ancestry males	1,302 Japanese ancestry males	19q13.33	KLK3	rs1058205-?	NR	8E-21		0.085	[0.067-0.103] unit increase	Illumina [303283]	N
976	chr19	51364622	51364623	rs2735839	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	19q13.33	NR	rs2735839-G	0.85	6E-9		1.17	[1.11-1.24]	Affymetrix [up to 19977088] (imputed)	N
976	chr19	51364622	51364623	rs2735839	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	19q13.33	NR	rs2735839-G	0.85	2E-8	(European)	1.2	[1.13-1.28]	Affymetrix [up to 19977088] (imputed)	N
976	chr19	51364622	51364623	rs2735839	23269536	Sun J	2012-12-27	Hum Genet	Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population.	Prostate-specific antigen levels	1,999 Chinese ancestry males	1,496 Chinese ancestry males	19q13.33	KLK3	rs2735839-G	0.58	6E-37		0.19	[NR] % increase	Illumina [> 709211] (imputed)	N
976	chr19	51364622	51364623	rs2735839	18264097	Eeles RA	2008-02-10	Nat Genet	Multiple newly identified loci associated with prostate cancer susceptibility.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	3,268 European ancestry cases, 3,366 European ancestry controls	19q13.33	KLK3	rs2735839-G	0.85	2E-18		1.2	[1.10-1.33]	Illumina [541129]	N
976	chr19	51374966	51374967	rs10424878	23555189	Chen Z	2013-04-01	Neoplasia	Genome-wide association study identifies genetic determinants of urine PCA3 levels in men.	PCA3 expression level	1,371 European ancestry individuals	NA	19q13.33	KLK3, KLK2	rs10424878-A	0.40	1E-8		1.24	[1.17-1.31] unit increase	Illumina [3076666] (imputed)	N
976	chr19	51377162	51377163	rs2664156	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	19q13.33	KLK15, KLK3, KLK2, KLKP1, KLK4	rs2664156-C		6E-6				Illumina [944512] (imputed)	N
977	chr19	51383199	51383200	rs80050017	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Tandem gait	2,946 individuals	NA	19q13.33	KLK2	rs80050017-T	0.06	4E-7	(Sum sidestep distance)	5.213	[3.19-7.23] unit increase	Illumina [6200000] (imputed)	N
977	chr19	51393117	51393118	rs1354774	23359319	Jin G	2013-01-01	Neoplasia	Genome-wide association study identifies loci at ATF7IP and KLK2 associated with percentage of circulating free PSA.	Prostate-specific antigen levels	3,192 European ancestry individuals	1,722 European ancestry individuals	19q13.33	KLK2, KLKP1	rs1354774-G	0.343	6E-20		0.058	% increase	Illumina [642584]	N
977	chr19	51398426	51398427	rs116520962	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	19q13.33	intergenic	rs116520962-A	0.002	2E-6		15.23	[3.38-68.72]	Illumina [1556551]	N
977	chr19	51419545	51419546	rs1701930	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.41	KLK4	rs1701930-A	0.241	2E-6	(Urinary free epinephrine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
977	chr19	51430595	51430596	rs7245858	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		19q13.41	LOC390956	rs7245858-?	0.04	2E-6		0.28	unit decrease	Illumina [NR] (imputed)	N
979	chr19	51713742	51713743	rs3987765	25786224	Johnson EO	2015-03-18	PLoS One	Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.	HIV-1 susceptibility	628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls	1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls	19q13.41	SIGLEC17P, CD33	rs3987765-T	0.19	5E-6		1.35	[1.14-1.61] (AA)	Illumina [~ 8000000] (imputed)	N
979	chr19	51726612	51726613	rs3826656	18976728	Bertram L	2008-10-29	Am J Hum Genet	Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.	Alzheimer's disease	941 European ancestry cases and 404 European ancestry controls from 410 families	1,767 European ancestry cases and 838 European ancestry controls from 875 families	19q13.41	CD33	rs3826656-?	NR	6E-6				Affymetrix [484522]	N
979	chr19	51727961	51727962	rs3865444	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	19q13.41	CD33	rs3865444-C	0.693	3E-6		1.06	[1.04-1.1]	Illumina [7055881] (imputed)	N
979	chr19	51727961	51727962	rs3865444	21460841	Naj AC	2011-04-03	Nat Genet	Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.	Alzheimer's disease (late onset)	8,309 European ancestry cases, 7,366 European ancestry controls	10,523 European ancestry cases, 28,231 European ancestry controls	19q13.41	CD33	rs3865444-?	0.70	2E-9		1.1	[1.08-1.14]	Affymetrix, Illumina [2324889] (imputed)	N
980	chr19	51773801	51773802	rs1878047	19851299	Johansson A	2009-10-22	Obesity (Silver Spring)	Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.	Body mass index	1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individuals	NA	19q13.41	NR	rs1878047-G	0.37	5E-6	(females + males)	0.06	[NR] kg decrease	Illumina [318237]	N
980	chr19	51796298	51796299	rs10414689	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		19q13.41	FLJ40235	rs10414689-T	NR	9E-7		0.7818	unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
980	chr19	51879033	51879034	rs3116139	25027321	Hoffmann TJ	2014-07-15	Hum Mol Genet	Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.	Glaucoma	658 African American prevalent cases, 1,062 African American incident cases, 6,067 African American controls, 153 Hispanic prevalent cases, 336 Hispanic incident cases, 2,685 Hispanic controls	NA	19q13.41	NR	rs3116139-C	0.066	3E-8	(AA, prevalent)	1.75	[1.43-2.13]	Affymetrix [up to 15784307] (imputed)	N
982	chr19	52084835	52084836	rs1543922	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	19q13.41	intergenic	rs1543922-?	0.036	3E-7	(CSJC, EA, RF-)	34.48	[NR] unit increase	Illumina [534053]	N
982	chr19	52127743	52127744	rs10414149	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	19q13.41	SIGLEC5	rs10414149-A	0.835	3E-9		1.2048193	[NR]	Illumina [4577171] (imputed)	N
982	chr19	52154904	52154905	rs10412972	25208887	Ma Q	2014-09-10	Blood	Genetic variants in PLG, LPA and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.	Plasma plasminogen levels	up to 3,244 European ancestry individuals	NA	19q13.41	SIGLEC14	rs10412972-A	0.16	8E-9		0.026	[0.014-0.038] unit increase	Illumina [up to 4514079] (imputed)	N
984	chr19	52324215	52324216	rs17695224	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	19q13.41	HAS1	rs17695224-A	0.26	2E-13		0.029	[NR] unit decrease	NR [NR] (imputed)	N
984	chr19	52338640	52338641	rs62110082	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	19q13.41	NR	rs62110082-?	NR	1E-6				NR [up to 8466825] (imputed)	N
984	chr19	52372975	52372976	rs10411161	21424380	Sehrawat B	2011-03-19	Hum Genet	Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility.	Breast cancer	302 European ancestry female cases, 321 European ancestry female controls	1,153 European ancestry female cases, 1,215 European ancestry female controls	19q13.41	ZNF577	rs10411161-T	0.13	7E-6		1.42	[1.22-1.65]	Affymetrix [782838]	N
985	chr19	52445385	52445386	rs8113308	25964295	Khan S	2015-05-11	Clin Cancer Res	Polymorphism at 19q13.41 predicts breast cancer survival specifically after endocrine therapy.	Survival in endocrine treated breast cancer (estrogen-receptor positive)	352 European ancestry cases with endocrine therapy, 254 European ancestry cases without endocrine therapy, 597 European ancestry controls	3,330 European ancestry cases with endocrine therapy, 42 European ancestry cases without endocrine therapy, 1,351 European ancestry controls	19q13.41	ZNF613	rs8113308-G	0.152	6E-7		1.69	[1.37-2.07]	Illumina [486478]	N
985	chr19	52532270	52532271	rs2288884	24280104	Wu AC	2013-11-23	J Allergy Clin Immunol	Inhaled corticosteroid treatment modulates ZNF432 gene variant's effect on bronchodilator response in asthmatics.	Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)	172 European ancestry cases, 409 European ancestry controls	227 European ancestry cases	19q13.41	ZNF614	rs2288884-T	0.34	5E-8				Illumina [449540]	N
986	chr19	52586918	52586919	rs12460587	24280104	Wu AC	2013-11-23	J Allergy Clin Immunol	Inhaled corticosteroid treatment modulates ZNF432 gene variant's effect on bronchodilator response in asthmatics.	Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)	172 European ancestry cases, 409 European ancestry controls	227 European ancestry cases	19q13.41	ZNF841, ZNF432	rs12460587-G	0.33	2E-9				Illumina [449540]	N
986	chr19	52601398	52601399	rs11666341	24280104	Wu AC	2013-11-23	J Allergy Clin Immunol	Inhaled corticosteroid treatment modulates ZNF432 gene variant's effect on bronchodilator response in asthmatics.	Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)	172 European ancestry cases, 409 European ancestry controls	227 European ancestry cases	19q13.41	ZNF841	rs11666341-A	0.45	1E-9				Illumina [449540]	N
986	chr19	52607764	52607765	rs10411428	24280104	Wu AC	2013-11-23	J Allergy Clin Immunol	Inhaled corticosteroid treatment modulates ZNF432 gene variant's effect on bronchodilator response in asthmatics.	Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)	172 European ancestry cases, 409 European ancestry controls	227 European ancestry cases	19q13.41	NR	rs10411428-T	0.41	1E-9				Illumina [449540]	N
987	chr19	52787470	52787471	rs2434422	25987507	Minica CC	2015-05-19	Behav Genet	Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.	Cannabis use (initiation)	1,357 European ancestry users, 5,387 European ancestry never users	NA	19q13.41	MIR643, ZNF766	rs2434422-C	NR	4E-6		0.47	[0.27-0.67] unit decrease	NR [5896100] (imputed)	N
989	chr19	53013798	53013799	rs1984450	26081443	Adkins DE	2015-06-17	Twin Res Hum Genet	Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood.	Longitudinal alcohol consumption	2,126 adolescents and early adults	NA	19q13.41	ZNF578	rs1984450-A	0.1	3E-7	(trajectory)	5.15	z-score decrease	Illumina [866099] (imputed)	N
991	chr19	53284134	53284135	rs10404486	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	19q13.41	ZNF600	rs10404486-?	NR	9E-9	(proportions)	0.8	[NR] % increase	Illumina [NR] (imputed)	N
992	chr19	53384184	53384185	rs6509701	22005930	Hollingworth P	2011-10-18	Mol Psychiatry	Genome-wide association study of Alzheimer's disease with psychotic symptoms.	Psychosis in Alzheimer's disease	1,039 European ancestry cases with psychosis, 610 European ancestry cases without psychosis, 260 European, African American and Native American ancestry cases with psychosis and 125 European, African American and Native American ancestry cases without psychosis from 264 families	NA	19q13.41	ZNF320	rs6509701-?	0.7	5E-6		1.4084507	[NR]	Illumina [1882172] (imputed)	N
992	chr19	53451290	53451291	rs9304742	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	19q13.41	ZNF816A	rs9304742-T	0.643	6E-7		1.17	[1.1-1.25]	Illumina [up to 4778154] (imputed)	N
992	chr19	53454788	53454789	rs12459008	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	19q13.41	ZNF816A	rs12459008-A	NR	4E-6		1.162	[1.090-1.238]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
994	chr19	53666659	53666660	rs1133146	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	19q13.42	ZNF665	rs1133146-A	0.956	5E-6	(Allele model)	1.52	[1.01-2.29]	Illumina [508761]	N
994	chr19	53682041	53682042	rs16984547	22561531	Wan YI	2012-05-05	Thorax	Genome-wide association study to identify genetic determinants of severe asthma.	Asthma	933 European ancestry cases, 3,346 European ancestry controls	231 European ancestry cases, 1,345 European ancestry controls	19q13.42	ZNF665	rs16984547-?	NR	4E-6		1.43	[1.23-1.66]	Illumina [6103628] (imputed)	N
995	chr19	53780025	53780026	rs2965260	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	19q13.42	NR	rs2965260-C	0.898395713962946	9E-6	(IGP44)	0.2293	[0.13-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
1001	chr19	54604821	54604822	rs10423754	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA		OSCAR	rs10423754-?	NR	9E-6				Affymetrix, Illumina [~ 1300000]	N
1001	chr19	54612627	54612628	rs254262	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.42	TFPT	rs254262-A	0.468	8E-6	(Weight z-score change )	0.03	[NR] SD/y increase	Illumina [899892]	N
1001	chr19	54612627	54612628	rs254262	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.42	TFPT	rs254262-A	0.468	8E-6	(Energy storage )	0.03	[NR] kcal/d increase	Illumina [899892]	N
1001	chr19	54612627	54612628	rs254262	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.42	TFPT	rs254262-A	0.468	3E-6	(Weight change )	0.03	[NR] kg/y increase	Illumina [899892]	N
1002	chr19	54676432	54676433	rs2576452	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	19q13.42	MBOAT7	rs2576452-T	0.44	2E-29	(arachidonate (20:4n6)/1-arachidonoylglycerophosphoinositol)	0.028	[0.022-0.034] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
1002	chr19	54677188	54677189	rs8736	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	19q13.42	MBOAT7	rs8736-T	0.44	8E-18	(1-arachidonoylglycerophosphoinositol)	0.023	[0.017-0.029] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
1002	chr19	54753542	54753543	rs2361797	25214527	Dube MP	2014-09-11	Circ Cardiovasc Genet	CKM and LILRB5 Are Associated with Serum Levels of Creatine Kinase.	Creatine kinase in statin users	3,412 European ancestry individuals	3,389 European ancestry individuals	19q13.42	LILRB5	rs2361797-T	0.443	2E-10		0.08	[0.055-0.105] unit increase	Illumina [3232779] (imputed)	N
1003	chr19	54792760	54792761	rs386000	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	19q13.42	LILRA3	rs386000-C	0.26	3E-23		0.048	[NR] unit increase	NR [NR] (imputed)	N
1003	chr19	54792760	54792761	rs386000	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	19q13.42	LILRA3, LILRB2	rs386000-C	0.2	4E-16		0.83	[0.61-1.05] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
1003	chr19	54797847	54797848	rs103294	23023329	Xu J	2012-09-30	Nat Genet	Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 and 19q13.4.	Prostate cancer	1,417 Han Chinese ancestry cases, 1,008 Han Chinese ancestry controls	3,067 Han Chinese ancestry cases, 7,926 Han Chinese ancestry controls	19q13.42	LILRA3	rs103294-C	0.238	5E-16		1.28	[1.21-1.36]	Illumina [587294]	N
1003	chr19	54815576	54815577	rs759819	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	19q13.42	LILRA3, LILRA5	rs759819-C	0.33	6E-13		0.046	[0.034-0.058] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1003	chr19	54916103	54916104	rs11084337	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	19q13.42	TTYH1	rs11084337-?	NR	9E-7		0.134	[0.081-0.187] unit increase	Illumina [> 2500000] (imputed)	N
1005	chr19	55161521	55161522	rs139806220	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	19q13.42	NR	rs139806220-?	NR	5E-8	(Native Hawaiian)	1.187	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
1005	chr19	55171747	55171748	rs425283	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	19q13.42	LILRB1, LILRB4, LILRP2	rs425283-A	0.1616	9E-6		1.9644	[1.67-2.26]	Illumina [8809853] (imputed)	N
1005	chr19	55178777	55178778	rs11574583	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	19q13.42	LILRB4	rs11574583-?		6E-6				NR [~ 3000000] (imputed)	N
1006	chr19	55222806	55222807	rs270776	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	19q13.42	NR	rs270776-G	NR	9E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1007	chr19	55380213	55380214	rs17771967	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.42	NR	rs17771967-G	0.424	5E-8	(EA)	1.073007	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1007	chr19	55380213	55380214	rs17771967	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	19q13.42	NR	rs17771967-G	0.424	6E-6	(EA)	1.0475605	[1.03-1.07]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1007	chr19	55383050	55383051	rs11672983	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	19q13.42	KIR2DL1, LILRB4, NLRP7, NLRP2	rs11672983-A	0.392	7E-11		1.087	[1.055-1.119]	Affymetrix, Illumina [1230000] (imputed)	N
1010	chr19	55819844	55819845	rs1172822	19448621	He C	2009-05-17	Nat Genet	Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.	Menarche and menopause (age at onset)	17,438 European ancestry female individuals	NA	19q13.42	BRSK1	rs1172822-T	0.37	2E-19	(age at natural menopause)	0.49	[0.38-0.60] years decrease	Illumina [317759]	N
1010	chr19	55819844	55819845	rs1172822	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	19q13.42	BRSK1, TMEM224, SUV420H2	rs1172822-T	0.39	6E-11		0.39	[0.27-0.51] years decrease	Illumina [315418]	N
1010	chr19	55833663	55833664	rs11668344	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	19q13.42	NR	rs11668344-A	0.636	5E-26		0.3043	[0.25-0.36] years decrease	NR [NR]	N
1010	chr19	55833663	55833664	rs11668344	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	19q13.42	TMEM150B	rs11668344-G	0.363	1E-59		0.416	[0.37-0.47] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
1011	chr19	55879871	55879872	rs1126757	20360315	Uher R	2010-04-01	Am J Psychiatry	Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.	Response to antidepressants	706 European ancestry individuals	NA	19q13.42	IL11	rs1126757-?	0.48	3E-6	(escitalopram)	10.4	[NR] unit increase	Illumina [539391]	N
1012	chr19	56091331	56091332	rs149546760	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	19q13.42	ZNF579	rs149546760-C	0.01	5E-6	(Age 20-60 years)	0.339	[0.19-0.48] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1013	chr19	56111074	56111075	rs140900046	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	19q13.42	FIZ1	rs140900046-A	0.01	4E-6	(Age 20-60 years)	0.3405	[0.20-0.49] unit decrease	Affymetrix, Illumina [up to 17585496] (imputed)	N
1013	chr19	56173376	56173377	rs79546472	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	19q13.42	NR	rs79546472-?	NR	10E-7		0.375	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1014	chr19	56265663	56265664	rs17634917	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	19q13.42	RFPL4A	rs17634917-A	0.94	3E-6	(% improvement - 12 weeks)	1.371	[1.23-1.51]	Affymetrix, Illumina [1200000] (imputed)	N
1014	chr19	56265663	56265664	rs17634917	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	19q13.42	EPN1, NLRP9, NLRP11, RFPL4A	rs17634917-G	0.0573945	6E-6	(% improvement - SSRI treated - 12 weeks)	0.3761	[0.21-0.54] unit decrease	Affymetrix, Illumina [1200000] (imputed)	N
1014	chr19	56313527	56313528	rs299175	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis (severity)	794 European ancestry cases, 883 European ancestry controls	NA	19q13.43	NLRP11	rs299175-?	0.46	4E-6			[NR]	Illumina [551642]	N
1014	chr19	56320662	56320663	rs12461110	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	19q13.43	NR	rs12461110-A	0.3594	9E-8		0.1553	[0.098-0.212] years increase	NR [NR]	N
1014	chr19	56320662	56320663	rs12461110	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	19q13.43	NLRP11	rs12461110-A	0.356	9E-10		0.158	[0.11-0.21] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
1015	chr19	56451048	56451049	rs2043599	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	128 Han Chinese ancestry cases	NA	19q13.43	NR	rs2043599-?	NR	6E-6		3.748	[2.19-5.3] unit decrease	Illumina [498648]	N
1015	chr19	56451048	56451049	rs2043599	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)	128 Han Chinese ancestry cases	NA	19q13.43	NR	rs2043599-?	NR	5E-6		10.48	[6.17-14.79] unit decrease	Illumina [498648]	N
1015	chr19	56451048	56451049	rs2043599	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	19q13.43	NLRP13, NLRP8	rs2043599-G		5E-7	(AA)			Illumina [NR]	N
1016	chr19	56497959	56497960	rs16986856	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.43	NLRP8	rs16986856-A	0.454	8E-6	(Moderate activity )	0.03	[NR] %awake time increase	Illumina [899892]	N
1020	chr19	57089834	57089835	rs34863160	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.43	ZNF470	rs34863160-G	0.0020	9E-6	(Birth weight )	0.02	[NR] kg increase	Illumina [899892]	N
1020	chr19	57132237	57132238	rs10404342	23967269	Kim JH	2013-08-13	PLoS One	A genome-wide association study of total serum and mite-specific IgEs in asthma patients.	IgE levels in asthmatics	877 Korean ancestry cases	NA	19q13.43	ZNF71	rs10404342-?		8E-6				Illumina [442089]	N
1023	chr19	57417913	57417914	rs7249211	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	19q13.43	PEG3, USP29	rs7249211-G	0.29	6E-6	(men)	0.104	[0.059-0.149] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
1025	chr19	57678193	57678194	rs11672517	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	19q13.43	DUXA, ZNF264	rs11672517-A	0.28	7E-14		1.34	[1.25-1.45]	Illumina [234939]	N
1025	chr19	57760017	57760018	rs2014572	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	19q13.43	LOC390980	rs2014572-?	NR	7E-6	(count)			Perlegen [429981]	N
1026	chr19	57802910	57802911	rs36032958	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	19q13.43	NR	rs36032958-?	NR	5E-6	(AA)	1.1962	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1029	chr19	58249642	58249643	rs12973620	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	19q13.43	ZNF776	rs12973620-?	NR	5E-8	(Latino)	1.56	[1.40-1.72]	Affymetrix, Illumina [NR] (imputed)	N
1031	chr19	58469015	58469016	rs8106858	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.43	C19orf18	rs8106858-A	0.0050	9E-6	(Birth weight )	0.02	[NR] kg increase	Illumina [899892]	N
1032	chr19	58671266	58671267	rs12983728	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	19q13.43	ZNF274	rs12983728-A	0.16	5E-8		0.046	[0.03-0.062] s.d. decrease	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1032	chr19	58681860	58681861	rs117492019	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	19q13.43	ZNF274	rs117492019-T	0.19	1E-8		0.047	[0.031-0.063] s.d. decrease	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
1033	chr19	58770882	58770883	rs260461	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	19q13.43	ZNF544	rs260461-?	NR	8E-6	(binary)			Perlegen [429981]	N
1035	chr19	58992000	58992001	rs58632700	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	19q13.43	ZNF446	rs58632700-A	0.077	1E-7	(Free T3 )	0.05	[NR] pg/mL increase	Illumina [899892]	N
586	chr20	168019	168020	rs13036722	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p13	DEFB128	rs13036722-G	0.067	7E-7	(Sleep duration )	0.04	[NR] min/d increase	Illumina [899892]	N
586	chr20	191796	191797	rs6074578	25310821	Kim JH	2014-10-13	PLoS One	A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.	Hirschsprung disease	123 Korean ancestry cases, 432 Korean ancestry controls	NA	20p13	DEFB129	rs6074578-?	NR	4E-6	(Conditioned on rs2435357, rs1800860, rs7078220 and rs16879552)			Illumina [757260]	N
587	chr20	351943	351944	rs6051520	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	20p13	TRIB3	rs6051520-T	0.21	2E-7	(speed factor)	0.18	[0.12-0.24] unit increase	Illumina [~ 610000]	N
589	chr20	532804	532805	rs204664	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20p13	NR	rs204664-?	NR	9E-8	(Japanese)	0.5462	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
589	chr20	549917	549918	rs6084946	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p13	NR	rs6084946-C	0.233844371161549	5E-6	(IGP45)	0.2176	[0.12-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
589	chr20	594779	594780	rs1533087	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	20p13	NR	rs1533087-T		9E-6	(Modelling analysis)	1.06	[1.03-1.09]	NR [1252901] (imputed)	N
590	chr20	759314	759315	rs6117615	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel)	62 Japanese ancestry cases, 42 Japanese ancestry controls	NA	20p13	C20orf54	rs6117615-C	0.24	7E-6	(Dominant)	3.89	[2.1-7.18]	Illumina [555600]	N
591	chr20	819661	819662	rs6108038	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p13	FAM110A	rs6108038-A	0.04	7E-6	(Waist:height)	0.03	[NR] unit increase	Illumina [899892]	N
592	chr20	926396	926397	rs502716	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	20p13	RSP04	rs502716-?		3E-8	(Hispanic)	28.0	[NR]	Illumina [936149]	N
592	chr20	926396	926397	rs502716	24554482	Leger PD	2014-02-20	J Neurovirol	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)	40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls	NA	20p13	RSP04	rs502716-?		4E-6	(Hispanic)	14.0	[NR]	Illumina [936149]	N
594	chr20	1205885	1205886	rs397020	19010793	Baranzini SE	2008-11-14	Hum Mol Genet	Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.	Multiple sclerosis	978 European ancestry cases, 883 European ancestry controls	NA	20p13	C20orf46	rs397020-?	0.52	8E-7		1.41	[NR]	Illumina [551642]	N
594	chr20	1221170	1221171	rs970084	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	20p13	SNPH	rs970084-?		5E-6				Affymetrix, Illumina [1348798]	N
595	chr20	1401490	1401491	rs73584251	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	20p13	NR	rs73584251-?	NR	4E-7		0.4242	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
596	chr20	1459059	1459060	rs6042507	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		20p13	SIRPB2	rs6042507-A	0.11	4E-8		0.09	[0.051-0.129] unit decrease	Affymetrix, Illumina [2397181]	N
597	chr20	1610550	1610551	rs2281808	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	20p13	intergenic	rs2281808-?	0.64	1E-11		1.11	[1.05-1.19]	Affymetrix, Illumina [841622] (imputed)	N
598	chr20	1759589	1759590	rs6080550	22197933	Hu Z	2011-12-25	Nat Genet	A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.	Non-obstructive azoospermia	981 Han Chinese ancestry cases, 1,657 Han Chinese ancestry controls	1,946 Han Chinese ancestry cases, 4,077 Han Chinese ancestry controls	20p13	LOC100289473	rs6080550-?	NR	2E-9		1.27	[1.17-1.37]	Affymetrix [587347]	N
599	chr20	1923733	1923734	rs6136489	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	20p13	SIRPA	rs6136489-T	NR	8E-11		0.01	[0.006-0.014] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
599	chr20	1924706	1924707	rs13042885	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	20p13	SIRPA	rs13042885-C	NR	6E-14		0.008	[0.006-0.01] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
599	chr20	1929541	1929542	rs6035126	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	20p13	SIRPA	rs6035126-A	0.019	5E-6		0.176	[0.1-0.25] unit increase	Illumina [747076]	N
599	chr20	1941170	1941171	rs6045676	21223598	Wineinger NE	2011-01-11	BMC Med Genomics	Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.	Aortic root size	1,086 African American individuals	NA	20p13	PDYN, SIRPA	rs6045676-?	0.36	3E-8		0.1147	[0.070-0.159] cm increase	Affymetrix [NR]	N
600	chr20	1995533	1995534	rs6081597	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	20p13	PDYN	rs6081597-?		7E-7	(Hispanic)			Illumina [NR]	N
600	chr20	2074322	2074323	rs6112821	24811271	Kennedy RB	2014-05-09	Immunogenetics	Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.	Immune response to measles-mumps-rubella vaccine	883 European ancestry individuals	NA	20p13	STK35, PDYN	rs6112821-?		3E-7	(IFN gamma response)			Illumina [NR]	N
601	chr20	2220309	2220310	rs59586681	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	20p13	TGM3	rs59586681-T	0.61	3E-9		1.16	[1.11-1.22]	Illumina [38500000] (imputed)	N
602	chr20	2281969	2281970	rs214782	25855136	Stacey SN	2015-04-09	Nat Commun	New basal cell carcinoma susceptibility loci.	Basal cell carcinoma	4,572 European ancestry cases, 266,358 European ancestry controls	up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls	20p13	TGM3	rs214782-G	0.171	2E-13		1.28	[NR]	Illumina [24988228] (imputed)	N
602	chr20	2281969	2281970	rs214782	24403052	Stacey SN	2014-01-08	Hum Mol Genet	Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.	Basal cell carcinoma	4,208 European ancestry cases, 109,408 European ancestry controls	up to 1,480 European ancestry cases, up to 4,610 European ancestry controls	20p13	TGM3	rs214782-G	0.17	6E-17		1.29	[1.22-1.37]	Illumina [38500000] (imputed)	N
602	chr20	2306311	2306312	rs1012621	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	20p13	TGM3	rs1012621-?	NR	5E-6	(Shared)			Affymetrix, Illumina [~ 5200000]	N
603	chr20	2384971	2384972	rs34972666	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		20p13	TGM6	rs34972666-?	0.11	3E-8		0.23	unit decrease	Illumina [NR] (imputed)	N
604	chr20	2518564	2518565	rs6049839	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	20p13	TMC2	rs6049839-T	0.40	8E-6	(case-only)	1.37	[1.19-1.58]	Illumina [421318] (imputed)	N
604	chr20	2575368	2575369	rs6050469	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p13	TMC2	rs6050469-A	0.011	2E-6	(Height change )	0.03	[NR] cm/y increase	Illumina [899892]	N
606	chr20	2755487	2755488	rs6138892	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	20p13	intergenic	rs6138892-?	0.15	3E-7	(CTJC , EA, RF-)	10.93	[NR] unit increase	Illumina [534053]	N
606	chr20	2800800	2800801	rs7360412	23218918	Sprooten E	2012-12-04	Psychiatry Res	White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.	White matter integrity	70 unaffected relatives of cases with bipolar disorder, 80 controls	NA	20p13	TMEM239, C20orf141	rs7360412-?	0.06	7E-6				Illumina [565404]	N
609	chr20	3168165	3168166	rs8118008	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	20p13	DDRGK1	rs8118008-A	0.657	3E-11		1.111	[1.08-1.14]	Illumina [7893274] (imputed)	N
609	chr20	3185122	3185123	rs11697186	21659334	Tanaka Y	2011-06-09	Hum Mol Genet	Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.	Response to hepatitis C treatment	303 Japanese ancestry cases	391 Japanese ancestry cases	20p13	DDRGK1	rs11697186-T	0.15	5E-17	(Decrease of PLT)	4.5	[3.10-6.50]	Affymetrix [595052]	N
609	chr20	3185122	3185123	rs11697186	21659334	Tanaka Y	2011-06-09	Hum Mol Genet	Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.	Response to hepatitis C treatment	303 Japanese ancestry cases	391 Japanese ancestry cases	20p13	DDRGK1	rs11697186-A	0.85	9E-25	(Change in Hb)	33.33	[12.50-100]	Affymetrix [595052]	N
609	chr20	3187732	3187733	rs6139030	21659334	Tanaka Y	2011-06-09	Hum Mol Genet	Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.	Response to hepatitis C treatment	303 Japanese ancestry cases	391 Japanese ancestry cases	20p13	ITPA	rs6139030-T	0.83	2E-25	(Change of Hb)	25.0	[11.11-50.0]	Affymetrix [595052]	N
609	chr20	3187732	3187733	rs6139030	21659334	Tanaka Y	2011-06-09	Hum Mol Genet	Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.	Response to hepatitis C treatment	303 Japanese ancestry cases	391 Japanese ancestry cases	20p13	ITPA	rs6139030-C	0.17	1E-15	(Decrease of PLT)	3.9	[2.80-5.50]	Affymetrix [595052]	N
609	chr20	3193841	3193842	rs1127354	20637204	Ochi H	2010-07-13	Gastroenterology	ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients.	Ribavirin-induced anemia	453 Japanese ancestry individuals	470 Japanese ancestry individuals	20p13	DDRGK1, ITPA	rs1127354-A	NR	4E-44				Illumina [510537]	N
609	chr20	3193841	3193842	rs1127354	20173735	Fellay J	2010-02-21	Nature	ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.	Chronic hepatitis C infection	988 European ancestry cases, 198 African American cases, 100 Hispanic cases	NA	20p13	ITPA	rs1127354-A	0.069	2E-58				Illumina [565759]	N
609	chr20	3193892	3193893	rs7270101	20173735	Fellay J	2010-02-21	Nature	ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.	Chronic hepatitis C infection	988 European ancestry cases, 198 African American cases, 100 Hispanic cases	NA	20p13	ITPA	rs7270101-C	0.11	9E-76				Illumina [565759]	N
610	chr20	3381548	3381549	rs965469	21703177	Thompson AJ	2011-05-20	J Hepatol	Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients.	IFN-related cytopenia	984 European ancestry with genotype 1 HCV cases, 201 African American genotype 1 HCV cases, 99 Hispanic genotype 1 HCV cases	NA	20p13	ITPA	rs965469-?	NR	1E-9	(IFN-related thrombocytopenia at wk 4)			Illumina [565759]	N
611	chr20	3457615	3457616	rs171165	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	20p13	ATRN, C20orf194, LOC100131194	rs171165-A	0.003	1E-6		11.49	[3.29-40.16]	Illumina [1556551]	N
613	chr20	3737494	3737495	rs658495	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	20p13	C20orf27	rs658495-?		7E-6	(disease-free survival)	2.53	[1.69-3.78]	Illumina [729737]	N
613	chr20	3756596	3756597	rs13043330	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	20p13	HSPA12B	rs13043330-C	0.63	7E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
613	chr20	3776174	3776175	rs3761218	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	20p13	NR	rs3761218-?	NR	1E-6	(dominant)			Affymetrix [NR]	N
613	chr20	3776174	3776175	rs3761218	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	20p13	NR	rs3761218-C	0.64	7E-6		1.03	[1.15-1.23]	Affymetrix [469557]	N
614	chr20	3827308	3827309	rs4815617	20159242	Li X	2010-02-01	J Allergy Clin Immunol	Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.	Asthma	607 European ancestry cases, 3,294 European ancestry controls	NA	20p13	KIAA1271	rs4815617-?	NR	8E-6				Illumina [292443]	N
616	chr20	4098566	4098567	rs7273787	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	20p13	SMOX	rs7273787-A	0.651	3E-12		0.022	[0.016-0.028] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
616	chr20	4101799	4101800	rs1741344	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	20p13	SMOX	rs1741344-T	0.63	3E-9		0.023	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
616	chr20	4144576	4144577	rs1741309	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	20p13	SMOX	rs1741309-A	0.3847	9E-7	(Primary)	0.3232	[0.19-0.45] unit increase	Affymetrix, Illumina [NR] (imputed)	N
616	chr20	4169078	4169079	rs16989303	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	20p13	SMOX	rs16989303-?	0.21	6E-6				Affymetrix [253903]	N
617	chr20	4215556	4215557	rs1556832	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	20p13	ADRA1D	rs1556832-?	NR	9E-6	(Afro-Caribbean)	4.33	[2.27-8.27]	Illumina [2485249] (imputed)	N
618	chr20	4352103	4352104	rs159788	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	20p13	intergenic	rs159788-G	NR	7E-6	(5 degree of freedom test)	1.012	[0.97-1.05]	NR [1252901] (imputed)	N
618	chr20	4387133	4387134	rs586446	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p13	NR	rs586446-C	0.118307047833935	5E-6	(IGP52)	0.2226	[0.13-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr20	4387133	4387134	rs586446	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p13	NR	rs586446-C	0.118161679262258	2E-6	(IGP12)	0.2296	[0.13-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
619	chr20	4501874	4501875	rs297755	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Current cigarettes per day in chronic obstructive pulmonary disease	1,113 European ancestry cases	NA	20p13	intergenic	rs297755-G	0.17	5E-6		0.291	unit increase	Illumina [~ 6300000] (imputed)	N
620	chr20	4611876	4611877	rs6052699	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	20p13	PRNP	rs6052699-A	0.507	2E-6	(epinephrine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
620	chr20	4677091	4677092	rs6107516	25918841	Sanchez-Juan P	2015-04-28	PLoS One	A genome wide association study links glutamate receptor pathway to sporadic creutzfeldt-jakob disease risk.	Creutzfeldt-Jakob disease (sporadic)	434 European ancestry cases, 1,939 European ancestry controls	1,109 European ancestry cases, 2,264 European ancestry controls	20p13	PRNP	rs6107516-C	0.759	8E-9		1.35	[1.22-1.50]	Affymetrix [279389]	N
620	chr20	4677091	4677092	rs6107516	22137330	Sanchez-Juan P	2011-11-30	Neurobiol Aging	Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.	Creutzfeldt-Jakob disease (variant)	93 European ancestry cases, 1,504 European ancestry controls	42 European ancestry cases	20p13	PRNP	rs6107516-?	NR	3E-18				Affymetrix [287554]	N
620	chr20	4680250	4680251	rs1799990	22210626	Mead S	2011-12-30	Hum Mol Genet	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.	Prion diseases	1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls	NA	20p13	PRNP	rs1799990-?	NR	7E-7		1.3	[NR]	Illumina [NR] (imputed)	N
620	chr20	4680250	4680251	rs1799990	19081515	Mead S	2008-12-11	Lancet Neurol	Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.	Creutzfeldt-Jakob disease	117 European ancestry cases, 3,083 European ancestry controls	2 European ancestry vCJD cases, 506 Oceania ancestry sCJD cases, 28 Oceania ancestry iCJD cases, 151 Oceania ancestry Kuru cases, 125 Oceania ancestry Kuru resistant cases, 3,608 European ancestry controls, 562 Oceania ancestry controls	20p13	PRNP	rs1799990-A	NR	2E-21				Affymetrix [288908]	N
620	chr20	4698625	4698626	rs6116492	22137330	Sanchez-Juan P	2011-11-30	Neurobiol Aging	Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.	Creutzfeldt-Jakob disease (variant)	93 European ancestry cases, 1,504 European ancestry controls	42 European ancestry cases	20p13	PRNP	rs6116492-?	NR	5E-7				Affymetrix [287554]	N
621	chr20	4742704	4742705	rs6084875	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	20p13	RASSF2	rs6084875-A	0.34	2E-6		1.356	[1.273-1.44]	Illumina [NR]	N
623	chr20	5037773	5037774	rs261360	19896111	Medland SE	2009-11-04	Am J Hum Genet	Common variants in the trichohyalin gene are associated with straight hair in Europeans.	Hair morphology	4,845 European ancestry individuals from 2,892 families, 16,140 European ancestry individuals	NA	20p13	AL121890.2	rs261360-A	NR	3E-6				Illumina [~ 1000000] (imputed)	N
627	chr20	5588448	5588449	rs238295	22343285	Bakken TE	2012-02-16	Proc Natl Acad Sci U S A	Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.	Cortical structure (interaction)	421 European ancestry individuals	760 European ancestry individuals	20p12.3	GPCPD1	rs238295-?	NR	6E-9	(Scaling between occipital and total cortical surface area)			Affymetrix [597198]	N
629	chr20	5840538	5840539	rs4815868	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	20p12.3	C20orf196	rs4815868-A	0.19	8E-6	(2-choice RT)	0.16	[0.08-0.24] unit increase	Illumina [~ 610000]	N
630	chr20	5935384	5935385	rs236114	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	20p12.3	MCM8	rs236114-A	0.21	1E-10		0.5	[0.34-0.65] years increase	Illumina [315418]	N
630	chr20	5943692	5943693	rs454422	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	20p12.3	MCM8	rs454422-?	0.26	1E-6				Illumina [1212217]	N
630	chr20	5948226	5948227	rs16991615	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	20p12.3	NR	rs16991615-A	0.0785	5E-12		0.4608	[0.33-0.59] years decrease	NR [NR]	N
630	chr20	5948226	5948227	rs16991615	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	20p12.3	MCM8	rs16991615-A	0.069	1E-73		0.948	[0.85-1.05] years increase	Affymetrix, Illumina [2551160] (imputed)	N
630	chr20	5948226	5948227	rs16991615	19448621	He C	2009-05-17	Nat Genet	Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.	Menarche and menopause (age at onset)	17,438 European ancestry female individuals	NA	20p12.3	MCM8, TRMT6	rs16991615-A	0.06	1E-21	(age at natural menopause)	1.07	[0.85-1.29] years increase	Illumina [317759]	N
630	chr20	5949533	5949534	rs4815879	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	20p12.3	MCM8	rs4815879-?	NR	2E-6	(Afro-Caribbean)	14.57	[4.81-44.17]	Illumina [2485249] (imputed)	N
631	chr20	6035227	6035228	rs2326679	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	20p12.3	NR	rs2326679-?	NR	2E-6		0.32	[0.19-0.45] years increase	Illumina [315418]	N
632	chr20	6186156	6186157	rs6076960	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	20p12.3	FERMT1	rs6076960-A	0.475	6E-6		1.2722	[NR] unit increase	Illumina [1216189] (imputed)	N
633	chr20	6375459	6375460	rs6085533	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	20p12.3	LOC149844	rs6085533-A		1E-6		0.04	[0.03-0.06] unit increase	Affymetrix [~ 2500000] (imputed)	N
633	chr20	6404280	6404281	rs961253	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	20p12.3	BMP2	rs961253-A	0.37	1E-7		1.09	[1.06-1.12]	Affymetrix, Illumina [~ 2500000] (imputed)	N
633	chr20	6404280	6404281	rs961253	19011631	Houlston RS	2008-11-16	Nat Genet	Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.	Colorectal cancer	1,902 European ancestry cases, 1,929 European ancestry controls	18,284 European ancestry cases, 18,926 European ancestry controls	20p12.3	intergenic	rs961253-A	0.36	2E-10		1.12	[1.08-1.16]	Illumina [up to 548586]	N
634	chr20	6469595	6469596	rs17721822	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	20p12.3	BMP2	rs17721822-A	0.372	3E-29		0.035	[0.029-0.041] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
635	chr20	6578555	6578556	rs6054374	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	20p12.3	BMP2	rs6054374-T	NR	2E-7		0.007	[0.0050-0.0090] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
635	chr20	6582161	6582162	rs6140038	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	20p12.3	AL121911.1	rs6140038-?	0.011	1E-6	(EA, Inherited)	5.24	[2.50-10.99]	Illumina [2421290] (imputed)	N
635	chr20	6584603	6584604	rs6054383	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	20p12.3	BMP2	rs6054383-T	0.42	2E-9	(EA)	0.016	[0.010-0.022] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
635	chr20	6584603	6584604	rs6054383	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	20p12.3	BMP2	rs6054383-T	0.42	2E-10		0.015	[0.011-0.019] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
635	chr20	6609876	6609877	rs6107853	23669352	Graff M	2013-05-12	Hum Mol Genet	Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.	Body mass index	Up to 13,627 European ancestry individuals	Up to 16,253 European ancestry individuals	20p12.3	BMP2	rs6107853-A	0.45	2E-6		0.04	[0.022-0.058] unit increase	Affymetrix, Illumina [557887] (imputed)	N
635	chr20	6612831	6612832	rs1884897	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20p12.3	BMP2	rs1884897-G	0.639	7E-7	(EA)	0.016	[0.0095-0.0217] kg/m2 increase	Affymetrix, Illumina [2550021]	N
635	chr20	6612831	6612832	rs1884897	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20p12.3	BMP2	rs1884897-G	0.635	1E-6		0.015	[0.0088-0.0206] kg/m2 increase	Affymetrix, Illumina [2550021]	N
635	chr20	6612831	6612832	rs1884897	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	20p12.3	BMP2	rs1884897-A	0.364	1E-48		0.044	[0.038-0.05] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
635	chr20	6620892	6620893	rs967417	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	20p12.3	BMP2	rs967417-C	0.53	2E-8		4.3	[2.73-5.87] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
635	chr20	6621684	6621685	rs2145270	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	20p12.3	BMP2	rs2145270-C	0.37	5E-18		1.2	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
635	chr20	6621684	6621685	rs2145270	19079261	Willer CJ	2008-12-14	Nat Genet	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.	Body mass index	32,387 European ancestry individuals	59,082 European ancestry individuals	20p12.3	BMP2	rs2145270-T	0.65	6E-6				Affymetrix, Illumina [2399588] (imputed)	N
635	chr20	6623373	6623374	rs979012	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20p12.3	BMP2	rs979012-T	0.3453	1E-7	(EA, women)	0.0255	[0.016-0.035] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
635	chr20	6623373	6623374	rs979012	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20p12.3	BMP2	rs979012-T	0.3443	2E-7	(women)	0.0245	[0.015-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
635	chr20	6623373	6623374	rs979012	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20p12.3	BMP2	rs979012-T	0.3426	3E-14		0.0266	[0.02-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
635	chr20	6623373	6623374	rs979012	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20p12.3	BMP2	rs979012-T	0.3425	3E-14	(EA)	0.0273	[0.02-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
635	chr20	6623373	6623374	rs979012	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20p12.3	BMP2	rs979012-T	0.3413	3E-8	(men)	0.0282	[0.018-0.038] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
635	chr20	6623373	6623374	rs979012	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20p12.3	BMP2	rs979012-T	0.3396	7E-8	(EA, men)	0.0284	[0.018-0.039] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
635	chr20	6626217	6626218	rs2145272	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	20p12.3	BMP2	rs2145272-A	0.88	9E-15		0.063	[0.041-0.085] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
635	chr20	6626217	6626218	rs2145272	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	20p12.3	BMP2	rs2145272-A	0.65	2E-24		0.039	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
635	chr20	6632900	6632901	rs6140050	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	20p12.3	NR	rs6140050-C	0.363	5E-6	(EA)	0.047	[0.027-0.067] unit decrease	Affymetrix, Illumina [up to 10250422] (imputed)	N
636	chr20	6690100	6690101	rs1015563	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	20p12.3	BMP2	rs1015563-T	0.35	2E-6		1.12	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
636	chr20	6699594	6699595	rs4813802	23266556	Peters U	2012-12-21	Gastroenterology	Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.	Colorectal cancer	12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls	958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls	20p12.3	BMP2	rs4813802-G	0.34	7E-6		1.1	[1.05-1.14]	Affymetrix, Illumina [2708280] (imputed)	N
636	chr20	6751088	6751089	rs2273074	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p12.3	BMP2	rs2273074-A	0.043	1E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
636	chr20	6761511	6761512	rs6054512	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	20p12.3	BMP2	rs6054512-T	0.6391	4E-7		0.0589	[0.036-0.082] unit decrease	Illumina [2500000] (imputed)	N
636	chr20	6761764	6761765	rs235770	23396134	Verhoeven VJ	2013-02-10	Nat Genet	Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.	Refractive error	37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals	NA	20p12.3	BMP2	rs235770-T	0.39	2E-8		0.089	[0.058-0.12] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
638	chr20	6980634	6980635	rs6085820	22881374	Cummings AC	2012-09-01	Ann Hum Genet	Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.	Alzheimer's disease (late onset)	109 Amish cases, 689 Amish controls	NA	20p12.3	intergenic	rs6085820-A	0.09	9E-6				Affymetrix [614963]	N
639	chr20	7106288	7106289	rs1884302	23160099	Justice CM	2012-11-18	Nat Genet	A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.	Sagittal craniosynostosis	130 European ancestry trios	172 cases, 548 controls	20p12.3	BMP2	rs1884302-C	0.30	1E-39		4.38	[3.51-5.45]	Illumina [915307]	N
639	chr20	7180055	7180056	rs6085920	18759275	McArdle PF	2008-09-01	Arthritis Rheum	Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.	Uric acid levels	408 Old Order Amish female individuals, 460 Old Order Amish male individuals	Framingham Heart Study (Sample size NR)	20p12.3	NR	rs6085920-?	NR	6E-6		0.4	[NR] mg/dl decrease in uric acid levels	Affymetrix [361034]	N
640	chr20	7294902	7294903	rs6054906	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	20p12.3	intergenic	rs6054906-?	NR	3E-6	(SF4)			Affymetrix [5476100] (imputed)	N
641	chr20	7385957	7385958	rs6054973	23829686	Ding L	2013-07-05	Hum Genomics	Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.	Asthma (childhood onset)	429 European ancestry affected offspring trios	52 African American affected offspring trios, 46 Hispanic affected offspring trios	20p12.3	intergenic	rs6054973-?	NR	1E-7				Affymetrix [786195]	N
642	chr20	7552503	7552504	rs6108011	17903294	Yang Q	2007-09-19	BMC Med Genet	Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.	Hemostatic factors and hematological phenotypes	Up to 1,062 European ancestry individuals	NA	20p12.3	intergenic	rs6108011-?	0.28	6E-6	(RBCC)			Affymetrix [70897]	N
644	chr20	7752365	7752366	rs6077251	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)	176 Japanese ancestry cases, 471 Japanese ancestry controls	NA	20p12.3	SFRS13AP2	rs6077251-T	0.153	3E-6	(Allelic model)	2.065	[1.537-2.773]	Illumina [733202]	N
644	chr20	7812349	7812350	rs2423279	24836286	Zhang B	2014-05-18	Nat Genet	Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.	Colorectal cancer	2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls	12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls	20p12.3	HAO1	rs2423279-C	0.31	3E-12	(East Asian)	1.13	[1.09-1.17]	Affymetrix, Illumina [2400000] (imputed)	N
644	chr20	7812349	7812350	rs2423279	23263487	Jia WH	2012-12-23	Nat Genet	Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.	Colorectal cancer	2,098 East Asian ancestry cases, 5,749 East Asian ancestry controls	5,358 East Asian ancestry cases, 5,922 East Asian ancestry controls, 26,060 European ancestry individuals	20p12.3	PLCB1, HAO1	rs2423279-C	0.302	2E-7	(East Asian)	1.14	[1.08-1.19]	Affymetrix, Illumina [1636380] (imputed)	N
644	chr20	7812349	7812350	rs2423279	23263487	Jia WH	2012-12-23	Nat Genet	Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.	Colorectal cancer	2,098 East Asian ancestry cases, 5,749 East Asian ancestry controls	5,358 East Asian ancestry cases, 5,922 East Asian ancestry controls, 26,060 European ancestry individuals	20p12.3	PLCB1, HAO1	rs2423279-C	0.252	7E-9		1.1	[1.06-1.14]	Affymetrix, Illumina [1636380] (imputed)	N
644	chr20	7819767	7819768	rs2423294	25064007	Nakajima M	2014-07-27	Nat Genet	A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.	Ossification of the posterior longitudinal ligament of the spine	1,112 Japanese ancestry cases, 6,810 Japanese ancestry controls	548 Japanese ancestry cases, 6,469 Japanese ancestry controls	20p12.3	HAO1	rs2423294-T	0.155	1E-13		1.41	[1.29-1.55]	Illumina [5163786] (imputed)	N
646	chr20	8114703	8114704	rs6118083	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	20p12.3	PLCB1	rs6118083-?	NR	7E-6	(Colorword)			Illumina [up to 563855]	N
647	chr20	8213785	8213786	rs6055685	26079190	Galfalvy H	2015-06-16	Am J Med Genet B Neuropsychiatr Genet	A genome-wide association study of suicidal behavior.	Suicide ideation score in major depressive disorder	358 European ancestry individuals	NA	20p12.3	PLCB1	rs6055685-A	0.18	8E-7		3.568	Suicidal ideation score increase	Illumina [794207]	N
648	chr20	8275644	8275645	rs62195918	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20p12.3	NR	rs62195918-?	NR	5E-6	(AA)	0.3458	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
648	chr20	8277942	8277943	rs2745761	22664479	Han JY	2012-06-05	Pharmacogenomics J	A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer.	Response to irinotecan in non-small-cell lung cancer	101 non-small-cell lung cancer cases	146 non-small-cell lung cancer cases	20p12.3	PLCB1	rs2745761-C	0.072	6E-6	(G3D)	4.8	[2.30-10.0]	Affymetrix [312230]	N
651	chr20	8704551	8704552	rs6077414	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	20p12.3	NR	rs6077414-?	0.092	1E-6		1.466	[1.257-1.711] unit increase	Illumina [563945]	N
652	chr20	8836770	8836771	rs6056209	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	20p12.3	PLCB1	rs6056209-?	0.4347	2E-6	(RVP)			Illumina [475971]	N
652	chr20	8865717	8865718	rs3761168	24564958	St Pourcain B	2014-02-24	Mol Autism	Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.	Social communication problems	Up to 5,628 European ancestry individuals	NA	20p12.3	PLCB1	rs3761168-A	0.05	8E-8	(Age 17)	0.32	[0.2-0.44] unit increase	Illumina [2293137] (imputed)	N
652	chr20	8895775	8895776	rs115205687	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20p12.3	NR	rs115205687-?	NR	1E-6		0.4923	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
652	chr20	8895775	8895776	rs115205687	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	20p12.3	NR	rs115205687-?	NR	4E-8		0.4891	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
656	chr20	9365302	9365303	rs2072910	20172861	Okada Y	2010-02-18	Hum Mol Genet	Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count.	Neutrophil count	5,771 Japanese ancestry individuals	1,894 Japanese ancestry individuals	20p12.2	PLCB4	rs2072910-C	0.30	3E-10		0.11	[0.07-0.15] unit decrease	Illumina [486091]	N
658	chr20	9631386	9631387	rs2224610	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20p12.2	NR	rs2224610-?	NR	3E-7	(Latino)	1.3171	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
659	chr20	9762447	9762448	rs6056869	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	20p12.2	PAK7	rs6056869-A	0.294	1E-6	EA	1.12	[1.07-1.17]	Illumina [up to 4778154] (imputed)	N
659	chr20	9778728	9778729	rs6056891	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p12.2	PAK7	rs6056891-G	0.268	8E-6	(Height z-score )	0.03	[NR] SD increase	Illumina [899892]	N
662	chr20	10183516	10183517	rs6039763	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide)	54 Japanese ancestry cases, 39 Japanese ancestry controls	NA	20p12.2	LOC100131208	rs6039763-A	0.09	2E-6	(Dominant model)	5.966	[2.502-14.23]	Illumina [733202]	N
663	chr20	10271366	10271367	rs116940963	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	20p12.2	intergenic	rs116940963-G	0.007	2E-6		7.39	[2.82-19.36]	Illumina [1556551]	N
663	chr20	10277451	10277452	rs362987	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	20p12.2	intergenic	rs362987-A	0.522	8E-6		0.02	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
666	chr20	10639542	10639543	rs2273061	20096396	Kung AW	2010-01-20	Am J Hum Genet	Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.	Bone mineral density	785 Han Chinese ancestry extreme high and low BMD female individuals	264 Han Chinese ancestry High BMD individuals, 456 Han Chinese ancestry Low BMD individuals, 3,465 Han Chinese ancestry individuals, 13,913 European ancestry individuals	20p12.2	JAG1	rs2273061-A	0.31	5E-8	(lumbar spine)	0.07	[NR] s.d. increase	Illumina [488853]	N
666	chr20	10639987	10639988	rs3790160	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	20p12.2	JAG1	rs3790160-T	0.5	3E-19	(LSBMD)	0.05	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
667	chr20	10850463	10850464	rs1884136	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	20p12.2	RP4-697P8.2	rs1884136-T	0.09	9E-6	(inspection time)	0.2	[0.10-0.30] unit increase	Illumina [~ 610000]	N
668	chr20	10961934	10961935	rs62185668	24861552	Rafnar T	2014-05-26	Hum Mol Genet	Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.	Urinary bladder cancer	1,670 European ancestry cases, 90,180 European ancestry controls	5,241 European ancestry cases, 10,456 European ancestry controls	20p12.2	JAG1	rs62185668-A	0.236	2E-11		1.19	[1.13-1.26]	Illumina [34200000] (imputed)	N
668	chr20	10965997	10965998	rs1887320	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	20p12.2	JAG1	rs1887320-A	0.53	1E-8		0.78	[0.51-1.05] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
668	chr20	10965997	10965998	rs1887320	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	20p12.2	JAG1	rs1887320-A	0.53	2E-8		0.43	[0.27-0.59] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
668	chr20	10969029	10969030	rs1327235	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	20p12.2	JAG1	rs1327235-G	0.46	2E-8		0.34	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
668	chr20	10969029	10969030	rs1327235	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	20p12.2	JAG1	rs1327235-G	0.46	1E-15		0.302	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
668	chr20	10969029	10969030	rs1327235	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	20p12.2	JAG1	rs1327235-G	0.58	4E-8	(Mean Arterial Pressure)	0.259	[0.17-0.35] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
668	chr20	10988098	10988099	rs6104690	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	6,911 European ancestry cases, 11,818 European ancestry controls	801 cases, 1,307 controls	20p12.2	C20orf187, LOC339593	rs6104690-A	0.56	7E-7		1.1236	[1.08-1.18]	Illumina [462190]	N
668	chr20	10996910	10996911	rs6104691	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	20p12.2	C20orf187	rs6104691-A	0.34	1E-6				Affymetrix, Illumina [~ 2500000] (imputed)	N
670	chr20	11157010	11157011	rs6040399	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	20p12.2	intergenic	rs6040399-T	NR	1E-6	(AA - Dizziness)			Affymetrix [421789]	N
670	chr20	11157010	11157011	rs6040399	22760553	Adkins DE	2012-07-03	Transl Psychiatry	Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.	Response to citalopram treatment	1,392 European ancestry depression cases, 264 African American depression cases, 106 depression cases	NA	20p12.2	intergenic	rs6040399-T	0.308	7E-7	(EA + AA - Dizziness)			Affymetrix [421789]	N
670	chr20	11174902	11174903	rs2207418	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	20p12.2	C20orf94, BTBD3, SNAP25, MKK5, JAG1	rs2207418-?	NR	9E-6	(dominant)			Affymetrix [361034]	N
670	chr20	11209521	11209522	rs6040449	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill	2,666 European ancestry individuals	NA	20p12.2	LOC339593	rs6040449-?	0.63	4E-6		0.14	[0.081-0.199] unit increase	Illumina [NR]	N
677	chr20	12082641	12082642	rs11907106	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p12.1	BTBD3	rs11907106-A	0.0030	4E-6	(Sleep duration )	0.01	[NR] min/d increase	Illumina [899892]	N
678	chr20	12222164	12222165	rs6134479	25060954	Wolber LE	2014-07-24	Hum Mol Genet	Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.	Hearing function	1,022 European ancestry individuals, 280 Carlantino individuals, 1,097 Friuli Venezia Giulia individuals, 804 Korkula individuals, 497 Split individuals, 421 Cilento individuals, 470 Talana individuals, 348 Silk Road individuals	NA	20p12.1	BTBD3, PA2G4P2	rs6134479-G	NR	5E-7	(PC3)			Affymetrix, Illumina [> 2300000] (imputed)	N
680	chr20	12506344	12506345	rs6041428	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	20p12.1	intergenic	rs6041428-G	0.9842	6E-6		1.256	[0.71-1.8] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
681	chr20	12689600	12689601	rs35548558	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	20p12.1	NR	rs35548558-T	NR	4E-6		0.027	[0.015-0.039] unit increase	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
682	chr20	12730041	12730042	rs1413020	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	20p12.1	PA2G4P2, SPTLC3	rs1413020-G	NR	3E-6	(Recreational physical activity)	0.02	[NR] unit increase	Affymetrix [706791]	N
683	chr20	12874584	12874585	rs2073233	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	20p12.1	intergenic	rs2073233-?	0.43	1E-6				Illumina [448293]	N
683	chr20	12945962	12945963	rs3903703	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 24:0)	7,915 European ancestry individuals	NA	20p12.1	SPTLC3	rs3903703-A	NR	6E-6		4.524	[NR] Z score decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
683	chr20	12959397	12959398	rs4814176	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Sphingolipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	20p12.1	SPTLC3	rs4814176-T	0.3758	4E-13	(Hydroxysphingomyeline C16:1)	0.0369	[0.027-0.047] unit increase	Affymetrix, Illumina [up to 296619] (imputed)	N
683	chr20	12959397	12959398	rs4814176	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Sphingolipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	20p12.1	SPTLC3	rs4814176-T	0.3752	2E-32	(Hydroxysphingomyeline C24:1)	0.062	[0.052-0.072] unit increase	Affymetrix, Illumina [up to 296619] (imputed)	N
683	chr20	12959397	12959398	rs4814176	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	20p12.1	SPTLC3	rs4814176-T	0.4	7E-33	(X-10510/palmitoyl sphingomyelin)	0.021	[0.017-0.025] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
683	chr20	12959397	12959398	rs4814176	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	20p12.1	SPTLC3	rs4814176-T	0.39	3E-17	(X-08402)	0.022	[0.016-0.028] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
683	chr20	12962717	12962718	rs364585	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	20p12.1	SPTLC3	rs364585-A	0.38	4E-10		0.025	[NR] unit decrease	NR [NR] (imputed)	N
683	chr20	12969399	12969400	rs680379	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Glycerophospholipid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	20p12.1	SPTLC3	rs680379-A	0.365	2E-21	(Phosphatidylcholine acyl-alkyl C40:2)	0.0441	[0.035-0.053] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
683	chr20	12969399	12969400	rs680379	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	20p12.1	SPTLC3	rs680379-A	NR	6E-13		7.205	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
683	chr20	12969399	12969400	rs680379	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Sphingolipid levels	4,034 European ancestry individuals	NA	20p12.1	SPTLC3	rs680379-?	NR	2E-16	(levels)	0.0	[0.80-1.70] % increase	Illumina [NR] (imputed)	N
683	chr20	12969399	12969400	rs680379	19798445	Hicks AA	2009-10-02	PLoS Genet	Genetic determinants of circulating sphingolipid concentrations in European populations.	Sphingolipid levels	4,110 European ancestry individuals	NA	20p12.1	SPTLC3	rs680379-A	0.34	8E-15	(Cer24:0)	0.1	[0.08-0.13] mol % increase	Illumina [318237]	N
685	chr20	13123732	13123733	rs17190927	21368711	Alliey-Rodriguez N	2011-03-02	Psychiatr Genet	Genome-wide association study of personality traits in bipolar patients.	Personality traits in bipolar disorder	1,951 European ancestry cases	NA	20p12.1	SPTLC3	rs17190927-?	NR	8E-7	(SPTLC3)			Affymetrix [702866]	N
685	chr20	13148151	13148152	rs2144134	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	20p12.1	LOC100130692, SPTLC3	rs2144134-G	NR	4E-6	(Alcohol intake)	0.09	[NR] unit decrease	Affymetrix [706791]	N
685	chr20	13222857	13222858	rs1407335	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	20p12.1	C20orf82	rs1407335-A		7E-6		0.04	[0.02-0.05] unit increase	Affymetrix [~ 2500000] (imputed)	N
685	chr20	13229325	13229326	rs6105057	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	20p12.1	ISM1	rs6105057-?		2E-6	(overall survival)	2.2	[1.59-3.04]	Illumina [729737]	N
686	chr20	13296911	13296912	rs1223271	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	20p12.1	C20orf82	rs1223271-G	0.87	5E-6		1.18	[NR]	Illumina [463185]	N
689	chr20	13696128	13696129	rs6042314	23358156	Benyamin B	2013-01-29	Mol Psychiatry	Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.	Intelligence (childhood)	12,441 European ancestry children	5,548 European ancestry children	20p12.1	NR	rs6042314-C	0.748	7E-6		0.058	[0.033-0.083] unit increase	Affymetrix, Illumina [138093] (imputed)	N
694	chr20	14309951	14309952	rs761998	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Mood disorder in prion disease	Up to 170 cases	NA	20p12.1	FLRT3	rs761998-?	0.352	7E-6		2.86	[1.82-4.55]	Illumina [518938]	N
694	chr20	14327898	14327899	rs6079395	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	20p12.1	MACROD2	rs6079395-A	0.49	7E-6	(Fibrosis)	0.92	[NR] unit increase	Illumina [324623]	N
694	chr20	14388214	14388215	rs6110278	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Mean platelet volume	4,627 European ancestry individuals	9,316 European ancestry individuals	20p12.1	NR	rs6110278-T	NR	4E-7		0.01	[0.005-0.013] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
697	chr20	14747470	14747471	rs4141463	20663923	Anney R	2010-07-27	Hum Mol Genet	A genome-wide scan for common alleles affecting risk for autism.	Autism	1,385 child cases from 1,369 families	1,086 child cases from 595 families, 1,965 European, African American and other ancestry controls	20p12.1	MACROD2	rs4141463-?	0.57	4E-8	(Str)	1.37	[1.22-1.52]	Illumina [842348]	N
699	chr20	14967078	14967079	rs430086	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	20p12.1	MACROD2	rs430086-A	NR	3E-7	(Cases)	0.16	[-0.1536-0.4736] unit increase	Illumina [6900000] (imputed)	N
700	chr20	15120743	15120744	rs11087123	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Eating disorders	543 European ancestry female cases, 1,116 European ancestry female controls	NA	20p12.1	MACROD2	rs11087123-A	0.738	4E-6		0.12	[0.069-0.171] unit decrease	Illumina [6150213] (imputed)	N
700	chr20	15177579	15177580	rs199307	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p12.1	MACROD2	rs199307-G	0.241	8E-6	(IGF1 free )	0.03	[NR] ng/mL increase	Illumina [899892]	N
701	chr20	15227635	15227636	rs7267421	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	20p12.1	MACROD2	rs7267421-?		8E-6				Illumina [859311]	N
701	chr20	15323281	15323282	rs2423942	22633400	Kosova G	2012-05-23	Am J Hum Genet	Genome-wide association study identifies candidate genes for male fertility traits in humans.	Male fertility	269 Hutterite males	NA	20p12.1	MACROD2	rs2423942-T	0.33	9E-6	(Family size, recessive model)			Affymetrix [248210]	N
702	chr20	15335753	15335754	rs6110577	19553259	Cotsapas C	2009-06-24	Hum Mol Genet	Common body mass index-associated variants confer risk of extreme obesity.	Obesity (extreme)	775 European ancestry cases, 3,197 European ancestry controls	NA	20p12.1	C20orf133	rs6110577-C	0.16	5E-6		1.4	[1.21-1.61]	Illumina [457251]	N
704	chr20	15599530	15599531	rs200752	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	20p12.1	MACROD2	rs200752-?,rs200759-?	(TA)	7E-9				Affymetrix [405022]	N
704	chr20	15606420	15606421	rs200759	21626137	Slavin TP	2011-05-28	Hum Genet	Two-marker association tests yield new disease associations for coronary artery disease and hypertension.	Hypertension	~2,000 European ancestry cases, ~3,000 European ancestry controls	NA	20p12.1	MACROD2	rs200752-?,rs200759-?	(TA)	7E-9				Affymetrix [405022]	N
705	chr20	15819494	15819495	rs8123881	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20p12.1	MACROD2	rs8123881-G	0.163	4E-7		0.022	[0.013-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
705	chr20	15819494	15819495	rs8123881	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20p12.1	MACROD2	rs8123881-G	0.149	4E-7	(EA)	0.023	[0.014-0.032] kg/m2 increase	Affymetrix, Illumina [2550021]	N
707	chr20	16003405	16003406	rs6080100	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	20p12.1	MACROD2	rs6080100-?	0.2655	7E-6	(anti-B2 GPI)	2.086	[NR]	Affymetrix [906600]	N
707	chr20	16054981	16054982	rs16997087	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		20p12.1	MACROD2	rs16997087-?	NR	2E-9	(Efficiency - R-paracentral)			Illumina [428287]	N
707	chr20	16054981	16054982	rs16997087	23471985	Jahanshad N	2013-03-05	Proc Natl Acad Sci U S A	Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.	Brain connectivity	331 European ancestry individuals		20p12.1	MACROD2	rs16997087-?	NR	1E-10	(Strength - R paracentral)			Illumina [428287]	N
708	chr20	16144344	16144345	rs871913	26169365	Huang KC	2015-07-14	BMC Complement Altern Med	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Yu-Zhi constitution type in type 2 diabetes	539 non-aboriginal Taiwanese ancestry low Yu-Zhi score individuals, 408 non-aboriginal Taiwanese ancestry high Yu-Zhi score individuals	NA	20p12.1	Intergenic	rs871913-A	0.045	8E-6	(Trend model)	1.86	[0.78-4.44]	Illumina [508761]	N
708	chr20	16197509	16197510	rs6110969	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	20p12.1	MACROD2, PPIAP17	rs6110969-T	0.08	3E-6		1.2	[1.11-1.29]	NR [NR]	N
709	chr20	16277629	16277630	rs6080212	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	20p12.1	KIF16B	rs6080212-A	NR	1E-6	(Perc15, All)	2.2	[1.32-3.08] unit decrease	Illumina [7600000] (imputed)	N
709	chr20	16311309	16311310	rs2208059	21139019	Walsh KM	2010-12-07	Endocr Relat Cancer	A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.	Ileal carcinoids	239 European ancestry cases, 107 European ancestry controls	NA	20p12.1	KIF16B	rs2208059-?	NR	4E-7		2.42	[1.72-3.42]	Illumina [308330]	N
710	chr20	16451641	16451642	rs6043979	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	20p12.1	KIF16B	rs6043979-?,rs932541-?,rs6044001-?,rs6044003-?	NR	1E-8	(Synaptic signaling, transport)			Illumina [795637]	N
710	chr20	16455773	16455774	rs932541	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	20p12.1	KIF16B	rs6043979-?,rs932541-?,rs6044001-?,rs6044003-?	NR	1E-8	(Synaptic signaling, transport)			Illumina [795637]	N
710	chr20	16459308	16459309	rs6044001	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	20p12.1	KIF16B	rs6043979-?,rs932541-?,rs6044001-?,rs6044003-?	NR	1E-8	(Synaptic signaling, transport)			Illumina [795637]	N
710	chr20	16460714	16460715	rs6044003	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	20p12.1	KIF16B	rs6043979-?,rs932541-?,rs6044001-?,rs6044003-?	NR	1E-8	(Synaptic signaling, transport)			Illumina [795637]	N
711	chr20	16536413	16536414	rs6044112	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (docetaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	20p12.1	C20orf23	rs6044112-?	NR	7E-7				Affymetrix, Illumina [~ 1300000]	N
712	chr20	16740824	16740825	rs4491792	23726511	Xie P	2013-05-28	Biol Psychiatry	Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.	Post-traumatic stress disorder (asjusted for relatedness)	up to 308 European ancestry cases, up to 1,538 European ancestry controls, up to 456 African American cases, up to 2,936 African American controls	NA	20p12.1	OTOR	rs4491792-?	NR	4E-6	(Whole cohort; EA)			Illumina [up to 871502]	N
715	chr20	17122592	17122593	rs852069	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	20p12.1	PCSK2	rs852069-G	0.64	1E-13		0.04	[0.03-0.05] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
715	chr20	17122592	17122593	rs852069	21102462	Elks CE	2010-11-21	Nat Genet	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Menarche (age at onset)	86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals	Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals	20p12.1	PCSK2	rs852069-A	0.37	3E-8		2.1	[1.32-2.88] week decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
717	chr20	17357572	17357573	rs4814615	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	20p12.1	PCSK2	rs4814615-?	0.19	5E-6		1.59	[1.30-1.95]	Affymetrix [832357]	N
717	chr20	17368541	17368542	rs6044777	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	20p12.1	PCSK2	rs6044777-A	0.17	8E-6	(fibrinogen)	0.23	[0.13-0.33] g/L increase	Illumina [316730]	N
717	chr20	17421977	17421978	rs2021786	24839885	Benke KS	2014-02-19	J Am Acad Child Adolesc Psychiatry	A genome-wide association meta-analysis of preschool internalizing problems.	Preschool internalizing problems	3,121 European ancestry individuals, 1,475 children from 1,031 families	NA	20p12.1	PCSK2	rs2021786-T	0.3356	7E-6		0.1	[0.058-0.15] unit decrease	Affymetrix, Illumina [2403520] (imputed)	N
718	chr20	17436472	17436473	rs6044834	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p12.1	PCSK2	rs6044834-C	0.069	8E-8	(Total antioxidants )	0.04	[NR] mM increase	Illumina [899892]	N
719	chr20	17566068	17566069	rs17791782	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	20p12.1	DSTN	rs17791782-?	0.07867	6E-6	(LAC)	2.628	[NR]	Affymetrix [906600]	N
719	chr20	17592299	17592300	rs12480819	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	20p12.1	intergenic	rs12480819-G	0.24	3E-6		1.15	[1.08-1.22]	Affymetrix, Illumina [~ 2300000] (imputed)	N
720	chr20	17825142	17825143	rs2077147	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p12.1	NR	rs2077147-C	0.336549315178571	3E-6	(IGP10)	0.1568	[0.091-0.223] unit decrease	Illumina [~ 2500000] (imputed)	N
721	chr20	17829279	17829280	rs2745851	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p12.1	NR	rs2745851-G	0.63954583935743	1E-6	(IGP39)	0.1562	[0.093-0.22] unit increase	Illumina [~ 2500000] (imputed)	N
721	chr20	17829279	17829280	rs2745851	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p12.1	NR	rs2745851-G	0.639296878396437	9E-7	(IGP9)	0.1593	[0.096-0.223] unit increase	Illumina [~ 2500000] (imputed)	N
721	chr20	17829279	17829280	rs2745851	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p12.1	NR	rs2745851-G	0.639234834372217	6E-7	(IGP68)	0.1618	[0.098-0.225] unit increase	Illumina [~ 2500000] (imputed)	N
721	chr20	17829279	17829280	rs2745851	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p12.1	NR	rs2745851-G	0.639172889630619	9E-6	(IGP71)	0.1435	[0.08-0.207] unit increase	Illumina [~ 2500000] (imputed)	N
721	chr20	17829279	17829280	rs2745851	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p12.1	NR	rs2745851-G	0.639172889630619	9E-6	(IGP70)	0.1435	[0.08-0.207] unit increase	Illumina [~ 2500000] (imputed)	N
721	chr20	17829279	17829280	rs2745851	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p12.1	NR	rs2745851-G	0.639172889630619	4E-6	(IGP40)	0.1483	[0.085-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
721	chr20	17829279	17829280	rs2745851	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p12.1	NR	rs2745851-G	0.639172889630619	2E-6	(IGP66)	0.1529	[0.089-0.216] unit increase	Illumina [~ 2500000] (imputed)	N
721	chr20	17843967	17843968	rs2618568	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	20p12.1	SNX5	rs2618568-C	0.37	7E-15		0.049	[0.037-0.061] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
721	chr20	17843967	17843968	rs2618568	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	20p12.1	SNX5	rs2618568-C	0.37	2E-12		0.044	[0.032-0.056] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
721	chr20	17845920	17845921	rs2328223	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	20p12.1	SNX5	rs2328223-C	0.21	6E-9		0.03	[NR] unit increase	NR [NR] (imputed)	N
722	chr20	18079130	18079131	rs17725255	21079607	Wang K	2010-11-16	Mol Psychiatry	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	Anorexia nervosa	1,033 European ancestry cases, 3,733 European ancestry controls	NA	20p11.23	CSRP2BP	rs17725255-?	0.11	2E-6				Illumina [~ 598000]	N
729	chr20	18885737	18885738	rs742731	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Homeostasis model assessment of insulin resistance (interaction)	820 European ancestry individuals	NA	20p11.23	C20orf79, LOC100130062	rs742731-A	0.407	5E-6	(Carbohydrate)			Affymetrix [590000]	N
729	chr20	18885737	18885738	rs742731	24204828	Zheng JS	2013-10-28	PLoS One	Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.	Fasting insulin (interaction)	820 European ancestry individuals	NA	20p11.23	C20orf79, LOC100130062	rs742731-A	0.407	2E-6	(Carbohydrate)			Affymetrix [590000]	N
731	chr20	19212889	19212890	rs6081541	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	20p11.23	SLC24A3	rs6081541-?		1E-6				Affymetrix [545513]	N
732	chr20	19363978	19363979	rs2424234	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	20p11.23	SLC24A3	rs2424234-?	NR	3E-6	(FEV1/FVC decline in non-asthmatics)	0.2113	[0.12-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
734	chr20	19571580	19571581	rs3790268	20031604	Cheng YC	2009-08-01	Circ Cardiovasc Genet	Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels.	Matrix metalloproteinase levels	778 Old Order Amish individuals	NA	20p11.23	SLC24A3	rs3790268-?	NR	3E-7				Affymetrix [338079]	N
735	chr20	19674217	19674218	rs6136813	21685187	Siedlinski M	2011-06-16	Thorax	Genome-wide association study of smoking behaviours in patients with COPD.	Age at smoking initiation in chronic obstructive pulmonary disease	3,397 European ancestry cases	NA	20p11.23	SLC24A3	rs6136813-T	0.26	3E-6		0.043	unit increase	Illumina [~ 6300000] (imputed)	N
736	chr20	19802187	19802188	rs6046346	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p11.23	RIN2	rs6046346-A	0.0090	5E-6	(Ft4 )	0.04	[NR] ng/dL increase	Illumina [899892]	N
736	chr20	19852249	19852250	rs6046393	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	20p11.23	RIN2, NAT5	rs6046393-T	0.2	2E-6	(CERAD-dr)	0.2954	[0.17-0.42] unit increase	Affymetrix, Illumina [NR] (imputed)	N
736	chr20	19852502	19852503	rs6046396	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	20p11.23	RIN2	rs6046396-?	NR	4E-7		1.2815	[NR]	Affymetrix [722112]	N
736	chr20	19865955	19865956	rs4814920	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	20p11.23	NR	rs4814920-?	NR	3E-6				NR [up to 8466825] (imputed)	N
737	chr20	20044758	20044759	rs35829183	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	White wine liking	381 Carlantino individuals, 744 Friuli Venezia Giulia individuals, 1,115 Val Borbera individuals	1,261 Erasmus Rucphen Family individuals, 335 Silk Road individuals	20p11.23	NR	rs35829183-C	NR	2E-6		0.081	[NR] unit decrease	Illumina [9969492] (imputed)	N
740	chr20	20339309	20339310	rs721424	26242244	Ma Y	2015-08-05	Sci Rep	Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia.	Exploratory eye movement dysfunction in schizophrenia (total eye scanning length)	128 Han Chinese ancestry cases	NA	20p11.23	NR	rs721424-?		7E-6		90.94	[51.09-130.79] unit decrease	Illumina [498648]	N
742	chr20	20634105	20634106	rs6132333	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p11.23	NR	rs6132333-C	0.0251507142920947	1E-6	(IGP23)	0.5267	[0.31-0.74] unit decrease	Illumina [~ 2500000] (imputed)	N
742	chr20	20634105	20634106	rs6132333	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p11.23	NR	rs6132333-C	0.0251061037895675	8E-6	(IGP34)	0.4924	[0.28-0.71] unit increase	Illumina [~ 2500000] (imputed)	N
742	chr20	20634105	20634106	rs6132333	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p11.23	NR	rs6132333-C	0.0251061037895675	7E-7	(IGP33)	0.5397	[0.33-0.75] unit increase	Illumina [~ 2500000] (imputed)	N
742	chr20	20634105	20634106	rs6132333	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p11.23	NR	rs6132333-C	0.0250948889928699	1E-6	(IGP25)	0.5296	[0.31-0.75] unit decrease	Illumina [~ 2500000] (imputed)	N
742	chr20	20634105	20634106	rs6132333	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p11.23	NR	rs6132333-C	0.0250837167483296	3E-6	(IGP32)	0.5085	[0.29-0.72] unit decrease	Illumina [~ 2500000] (imputed)	N
742	chr20	20634105	20634106	rs6132333	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20p11.23	NR	rs6132333-C	0.0250725390917186	5E-6	(IGP27)	0.5005	[0.29-0.72] unit decrease	Illumina [~ 2500000] (imputed)	N
743	chr20	20735576	20735577	rs6035684	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	20p11.23	NR	rs6035684-C	NR	3E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
744	chr20	20848967	20848968	rs6047116	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	20p11.23	RALGAPA2	rs6047116-G	0.351	2E-6	(DSST)	3.7872	[2.25-5.32] unit decrease	Affymetrix [> 371951] (imputed)	N
745	chr20	21081487	21081488	rs2236176	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20p11.23	PLK1S1	rs2236176-T	0.185	4E-6		0.019	[0.011-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
745	chr20	21081487	21081488	rs2236176	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20p11.23	PLK1S1	rs2236176-T	0.151	3E-6	(EA)	0.02	[0.012-0.029] kg/m2 increase	Affymetrix, Illumina [2550021]	N
746	chr20	21142812	21142813	rs2236178	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	20p11.23	PLK1S1, C20orf19, XRN2, NKX2-4, NKX2-2	rs2236178-?	NR	5E-6	(Additive)	1.4706	[1.27-1.72]	Affymetrix, Illumina [1621689] (imputed)	N
746	chr20	21180258	21180259	rs6137287	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	20p11.23	C20orf19	rs6137287-T	0.309	4E-10		0.02	[0.014-0.026] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
751	chr20	21853099	21853100	rs2180439	22032556	Brockschmidt FF	2011-10-27	Br J Dermatol	Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness.	Male-pattern baldness	581 European ancestry male cases, 617 European ancestry male controls	461 European ancestry male cases, 151 European ancestry male controls	20p11.22	intergenic	rs2180439-?	NR	4E-17		2.08	[1.76-2.47]	Illumina [560387]	N
751	chr20	21853099	21853100	rs2180439	18849994	Hillmer AM	2008-10-12	Nat Genet	Susceptibility variants for male-pattern baldness on chromosome 20p11.	Male-pattern baldness	296 European ancestry cases, 347 European ancestry controls	319 European ancestry cases, 234 European ancestry controls	20p11.22	BQ013595, PAX1, BE789145	rs2180439-C	0.43	3E-15		1.82	[1.45-2.30]	Illumina [531695]	N
751	chr20	21884692	21884693	rs6137473	25784220	Sharma S	2015-03-18	Nat Commun	A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.	Adolescent idiopathic scoliosis	371 European ancestry female cases, 76 European ancestry male cases, 533 European ancestry female controls, 204 European ancestry male controls	715 European, Black, Hispanic and other ancestry trios, 216 European ancestry cases, 336 European ancestry controls, 1,050 Japanese ancestry female cases, 1,474 Japanese ancestry female controls	20p11.22	FOXA2, PAX1	rs6137473-G	0.39	3E-8		1.3	[1.19-1.41]	Illumina [727670]	N
753	chr20	22037574	22037575	rs6047844	22693459	Li R	2012-05-31	PLoS Genet	Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.	Male-pattern baldness	3,891 European ancestry cases, 8,915 European ancestry controls	NA	20p11.22	PAX1, FOXA2	rs6047844-T	0.460	2E-39		1.6	[1.49-1.72]	Affymetrix, Illumina [2391230] (imputed)	N
753	chr20	22050502	22050503	rs1160312	18849991	Richards JB	2008-10-12	Nat Genet	Male-pattern baldness susceptibility locus at 20p11.	Male-pattern baldness	578 European ancestry cases, 547 European ancestry controls	1,351 European ancestry cases, 2,485 European ancestry controls	20p11.22	PAX1	rs1160312-A	0.43	1E-14	(males)	1.6	[1.42-1.80]	Affymetrix [370102]	N
754	chr20	22267057	22267058	rs1028444	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	20p11.22	intergenic	rs1028444-?		5E-6	(M)	26.33	[14.1-38.56] unit increase	Illumina [693128]	N
757	chr20	22559600	22559601	rs6048205	22581228	Manning AK	2012-05-13	Nat Genet	A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.	Fasting glucose-related traits (interaction with BMI)	Up to 58,074 European ancestry individuals	Up tp 38,422 European ancestry individuals	20p11.21	FOXA2	rs6048205-?		2E-12				Affymetrix, Illumina [~ 2400000] (imputed)	N
757	chr20	22567941	22567942	rs1209523	20152958	Xing C	2010-02-11	Am J Hum Genet	A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels.	Fasting plasma glucose	2,029 African American individuals, 7,428 European ancestry individuals	1,571 African American individuals, 3,825 European ancestry individuals	20p11.21	FOXA2	rs1209523-?	0.043	2E-11				Affymetrix [814004]	N
757	chr20	22581267	22581268	rs6048216	25187374	Hwang JY	2014-09-03	Diabetes	Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.	Fasting plasma glucose	24,740 East Asian ancestry individuals	21,345 East Asian ancestry individuals	20p11.21	FOXA2	rs6048216-?	NR	2E-12		0.095	[0.070-0.120] unit increase	Affymetrix, Illumina [up to 2315813] (imputed)	N
757	chr20	22672419	22672420	rs6137726	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	20p11.21	SSTR4	rs6137726-?		9E-7				Illumina [859311]	N
758	chr20	22740896	22740897	rs2424460	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Age of smoking initiation	1,837 Bangladeshi ancestry males, 198 Bangladeshi ancestry females	NA	20p11.21	NR	rs2424460-?		3E-6				Illumina [1211988] (imputed)	N
759	chr20	22887256	22887257	rs6075982	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p11.21	SSTR4	rs6075982-A	0.303	3E-6	(Diet protein )	0.04	[NR] g/d increase	Illumina [899892]	N
760	chr20	23031655	23031656	rs3176130	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	20p11.21	THBD	rs3176130-?	NR	2E-7				Affymetrix [5486770] (imputed)	N
761	chr20	23097879	23097880	rs1320561	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p11.21	LOC200261, CD93	rs1320561-G	0.395	1E-6	(Leptin )	0.03	[NR] ng/mL increase	Illumina [899892]	N
761	chr20	23141654	23141655	rs844917	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (alanine transaminase)	484 Korean ancestry children	NA	20p11.21	CD93	rs844917-A	0.041	6E-6		0.111	[0.064-0.158] unit increase	Illumina [747076]	N
762	chr20	23268636	23268637	rs4815191	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20p11.21	NXT1	rs4815191-A	0.202	6E-6	(Free T3 )	0.03	[NR] pg/mL increase	Illumina [899892]	N
764	chr20	23578188	23578189	rs1158167	17903292	Hwang SJ	2007-09-19	BMC Med Genet	A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.	Cystatin C	981 individuals	NA	20p11.21	CST9, CST3, CST9L	rs1158167-?	NR	9E-9				Affymetrix [70897]	N
765	chr20	23612736	23612737	rs911119	20383146	Kottgen A	2010-04-11	Nat Genet	New loci associated with kidney function and chronic kidney disease.	Chronic kidney disease	Up to 67,093 European ancestry individuals	Up to 22,982 European ancestry individuals	20p11.21	CST9, CST3, CST4	rs911119-?	0.21	2E-138	(eGFRcys)			Affymetrix, Illumina [~ 2500000] (imputed)	N
765	chr20	23616468	23616469	rs35610040	24952865	Akerblom A	2014-04-04	Am Heart J	Polymorphism of the cystatin C gene in patients with acute coronary syndromes: Results from the PLATelet inhibition and patient Outcomes study.	Plasma cystastin c levels in acute coronary syndrome	9,801 European ancestry cases, 57 Black cases, 90 Oriental ancestry cases, 30 cases	NA	20p11.21	CST3	rs35610040-G	0.205443	1E-26		0.0562	[NR] mg/L decrease	Illumina [619657]	N
765	chr20	23642426	23642427	rs16985615	24952865	Akerblom A	2014-04-04	Am Heart J	Polymorphism of the cystatin C gene in patients with acute coronary syndromes: Results from the PLATelet inhibition and patient Outcomes study.	Plasma cystastin c levels in acute coronary syndrome	9,801 European ancestry cases, 57 Black cases, 90 Oriental ancestry cases, 30 cases	NA	20p11.21	CST3, CST4	rs16985615-?	NR	4E-7	(Conditioned on rs6048952)			Illumina [619657]	N
766	chr20	23847008	23847009	rs6138150	18615156	Liu C	2008-07-10	Mol Med	Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.	Response to TNF antagonist treatment	89 European ancestry cases	NA	20p11.21	CST5	rs6138150-T	0.84	3E-6				Illumina [283348]	N
767	chr20	23898994	23898995	rs1741629	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20p11.21	NR	rs1741629-?	NR	2E-7		0.389	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
768	chr20	24058406	24058407	rs6049375	20932654	Kerns SL	2010-10-05	Int J Radiat Oncol Biol Phys	Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.	Erectile dysfunction and prostate cancer treatment	27 African American cases, 52 African American controls	NA	20p11.21	GGTLC1	rs6049375-?	0.28	8E-6		4.84	[NR]	Affymetrix [512497]	N
773	chr20	24717084	24717085	rs2424635	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	20p11.21	NR	rs2424635-?	NR	7E-6		1.2261	[NR]	Affymetrix [722112]	N
775	chr20	25019098	25019099	rs6050267	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	20p11.21	ACSS1	rs6050267-?	NR	9E-6	(Colorword)			Illumina [up to 563855]	N
777	chr20	25206653	25206654	rs1044573	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	Allergic rhinitis	3,933 European ancestry cases, 8,965 European ancestry controls	NA	20p11.21	ENTPD6	rs1044573-A	0.51	1E-6		1.15	[1.09-1.21]	Affymetrix, Illumina [2217510] (imputed)	N
777	chr20	25225944	25225945	rs7344105	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	20p11.21	ENTPD6, PYGB	rs7344105-G	0.002	2E-6		15.21	[3.37-68.63]	Illumina [1556551]	N
777	chr20	25240188	25240189	rs2281558	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	20p11.21	PYGB	rs2281558-T	0.25	5E-6		0.015	[0.0091-0.0209] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
777	chr20	25266899	25266900	rs139672965	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Asymmetrical dimethylarginine levels	5110 European ancestry individuals	NA	20p11.21	intergenic	rs139672965-A	0.01	8E-6		0.654	[0.37-0.94] unit increase	Affymetrix, Illumina [10085758] (imputed)	N
778	chr20	25298086	25298087	rs7267979	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alkaline phosphatase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	20p11.21	ABHD12, GINS1, PYGB	rs7267979-G	0.57	7E-10		1.5	[0.90-2.0] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
783	chr20	26082756	26082757	rs193078978	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	20p11.1	NR	rs193078978-?	NR	2E-6	(EA)	0.3087	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
785	chr20	26255995	26255996	rs816535	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	20p11.1	intergenic	rs816535-C	0.811	1E-6		1.8	[NR]	Illumina [3922209] (imputed)	N
816	chr20	30294033	30294034	rs6060821	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	20q11.21	BCL2L1, COX4I2, TPX2, MYLK2, TTLL9, FOXS1	rs6060821-?	NR	4E-6				Perlegen [1871025] (imputed)	N
816	chr20	30306723	30306724	rs6087771	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	20q11.21	BCL2L1	rs6087771-T	0.71	1E-12	(Putamen, EA)	33.58	[24.31-42.85] mm3 increase	Affymetrix, Illumina [NR] (imputed)	N
816	chr20	30394516	30394517	rs6060960	26184070	Aebi M	2015-07-16	Am J Med Genet B Neuropsychiatr Genet	Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder.	Oppositional defiant disorder in attention-deficit hyperactivity disorder	750 European ancestry individuals	NA	20q11.21	BCL2L1, COX4I2, TPX2, MYLK2, TTLL9, FOXS1	rs6060960-?	NR	3E-6				Perlegen [1871025] (imputed)	N
819	chr20	30725647	30725648	rs6142618	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	20q11.21	HCK	rs6142618-G	0.564	6E-10		1.072	[1.041-1.103]	Affymetrix, Illumina [1230000] (imputed)	N
820	chr20	30849516	30849517	rs4243971	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q11.21	NR	rs4243971-C	0.56	9E-7	(EA)	1.0498904		Affymetrix, Illumina [~ 9000000] (imputed)	N
820	chr20	30849516	30849517	rs4243971	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q11.21	NR	rs4243971-A	0.56	3E-6	(EA)	1.0574708		Affymetrix, Illumina [~ 9000000] (imputed)	N
823	chr20	31313736	31313737	rs13036344	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Type 2 diabetes	89 Martu Australian Aboriginal ancestry cases, 302 Martu Australian Aboriginal ancestry controls	NA	20q11.21	COMMD7	rs13036344-?	NR	9E-6		0.2	[0.12-0.28] unit increase	Illumina [1075436] (imputed)	N
824	chr20	31348749	31348750	rs6058869	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q11.21	NR	rs6058869-?	NR	3E-8	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
824	chr20	31349907	31349908	rs6087990	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q11.21	NR	rs6087990-G	0.4056	6E-6	(EA)	1.0586283	[1.03-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
824	chr20	31376281	31376282	rs4911259	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	20q11.21	DNMT3B	rs4911259-G	0.383	1E-9		1.075	[1.044-1.106]	Affymetrix, Illumina [1230000] (imputed)	N
824	chr20	31376994	31376995	rs6119285	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs6119285-T		4E-6				Illumina [2373249] (imputed)	N
824	chr20	31384879	31384880	rs6057648	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs6057648-A		4E-6				Illumina [2373249] (imputed)	N
824	chr20	31395476	31395477	rs6119286	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs6119286-A		4E-6				Illumina [2373249] (imputed)	N
824	chr20	31410336	31410337	rs6057651	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs6057651-A		7E-6				Illumina [2373249] (imputed)	N
824	chr20	31410336	31410337	rs6057651	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs6057651-A		4E-6				Illumina [2373249] (imputed)	N
824	chr20	31419808	31419809	rs6057652	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs6057652-A		7E-6				Illumina [2373249] (imputed)	N
824	chr20	31419808	31419809	rs6057652	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs6057652-A		4E-6				Illumina [2373249] (imputed)	N
824	chr20	31437606	31437607	rs7270085	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs7270085-A		4E-6				Illumina [2373249] (imputed)	N
824	chr20	31445146	31445147	rs6057659	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs6057659-A		5E-6				Illumina [2373249] (imputed)	N
824	chr20	31446857	31446858	rs8123073	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs8123073-A		5E-6				Illumina [2373249] (imputed)	N
824	chr20	31447367	31447368	rs17123726	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q11.21	NR	rs17123726-A		5E-6				Illumina [2373249] (imputed)	N
825	chr20	31531543	31531544	rs13045180	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	20q11.21	intergenic	rs13045180-T	0.19	9E-6	(ESRD)	1.28	[1.15-1.43]	Affymetrix, Illumina [~ 2500000] (imputed)	N
826	chr20	31718652	31718653	rs6059101	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	20q11.21	C20orf71, C20orf70	rs6059101-A	NR	4E-6	(Analysis II)			Illumina [313720]	N
827	chr20	31768654	31768655	rs6120141	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	20q11.21	BPIFA2, C20orf70	rs6120141-T	0.0252	3E-6		5.0772	[NR] unit decrease	Illumina [1216189] (imputed)	N
827	chr20	31798436	31798437	rs17124372	24556642	Zeng Z	2014-02-18	Caries Res	Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.	Smooth-surface caries	1006 European ancestry individuals	NA	20q11.21	BASE, PLUNC, BPIFA4P	rs17124372-T	0.0241	2E-6		5.1975	[NR] unit decrease	Illumina [1216189] (imputed)	N
828	chr20	31950844	31950845	rs291671	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Hair color	9,126 European ancestry individuals	NA	20q11.21	ASIP	rs291671-G	0.10	2E-15	(red hair)	0.22	[NR] unit increase	Illumina [535076]	N
831	chr20	32304652	32304653	rs1074683	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	20q11.22	PXMP4	rs1074683-C	0.757	8E-38		0.044	[0.038-0.05] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
831	chr20	32304652	32304653	rs1074683	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	20q11.22	PXMP4	rs1074683-C	0.76	1E-14		1.21	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
831	chr20	32333180	32333181	rs7274811	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	20q11.22	ZNF341	rs7274811-T	0.23	6E-22		0.041	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
832	chr20	32418367	32418368	rs2747539	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	20q11.22	NR	rs2747539-?	NR	4E-6		3.389	[NR]	Illumina [4196861] (imputed)	N
832	chr20	32482631	32482632	rs742614	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Stearic acid (18:0) plasma levels	8,961 European ancestry individuals		20q11.22	CHMP4B	rs742614-A	NR	3E-7		0.095	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
833	chr20	32556776	32556777	rs6059594	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q11.22	NR	rs6059594-G	0.962818623864648	7E-6	(IGP72)	0.4826	[0.27-0.69] unit decrease	Illumina [~ 2500000] (imputed)	N
833	chr20	32556776	32556777	rs6059594	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q11.22	NR	rs6059594-G	0.962797338540276	9E-6	(IGP66)	0.4792	[0.27-0.69] unit increase	Illumina [~ 2500000] (imputed)	N
833	chr20	32556776	32556777	rs6059594	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q11.22	NR	rs6059594-G	0.962797338540276	5E-6	(IGP70)	0.4906	[0.28-0.7] unit increase	Illumina [~ 2500000] (imputed)	N
833	chr20	32556776	32556777	rs6059594	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q11.22	NR	rs6059594-G	0.962797338540276	4E-6	(IGP71)	0.4964	[0.29-0.71] unit increase	Illumina [~ 2500000] (imputed)	N
833	chr20	32556776	32556777	rs6059594	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q11.22	NR	rs6059594-G	0.962780757212823	3E-6	(IGP62)	0.4999	[0.29-0.71] unit decrease	Illumina [~ 2500000] (imputed)	N
833	chr20	32588094	32588095	rs2284378	22976474	Siddiq A	2012-09-13	Hum Mol Genet	A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.	Breast cancer	3,666 European ancestry cases, 28,864 European ancestry controls, 1,004 African American cases, 2,744 African American controls	562 European ancestry cases, 6,410 European ancestry controls, 84 Japanese ancestry cases, 830 Japanese ancestry controls, 300 Latino cases, 1,164 Latino controls	20q11.22	RALY, EIF2S2, ASIP	rs2284378-T	0.31	1E-8		1.16	[1.10-1.22]	Illumina [2608509] (imputed)	N
834	chr20	32665747	32665748	rs6059655	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin sensitivity to sun	2,668 European ancestry individuals	NA	20q11.22	ASIP, RALY	rs6059655-A	0.0959999999999999	1E-7		0.22	[0.30232-0.13768] unit decrease	Illumina [NR] (imputed)	N
834	chr20	32665747	32665748	rs6059655	25963972	Liu F	2015-05-12	Hum Genet	Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.	Skin colour saturation	5,857 European ancestry individuals	NA	20q11.22	ASIP, RALY	rs6059655-A	0.0785385009390473	5E-13		0.01310935	[NR] unit decrease	Illumina [11155022] (imputed)	N
834	chr20	32665747	32665748	rs6059655	25705849	Jacobs LC	2015-02-23	J Invest Dermatol	A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.	Facial pigmentation	2,844 European ancestry individuals	NA	20q11.22	ASIP, RALY	rs6059655-A	0.08	3E-9		14.58	[10.05-19.11] unit increase	Illumina [6846125] (imputed)	N
834	chr20	32729443	32729444	rs4911414	23548203	Zhang M	2013-04-01	Hum Mol Genet	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.	Tanning	9,678 European ancestry individuals		20q11.22	ASIP	rs4911414-G	NR	4E-9		0.07	[0.050-0.090] unit decrease	Affymetrix, Illumina [7588169] (imputed)	N
834	chr20	32729443	32729444	rs4911414	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Skin sensitivity to sun	5,130 individuals	3,330 individuals	20q11.22	ASIP	rs1015362-G,rs4911414-T	0.08	2E-24		1.76	[1.49-2.08]	Illumina [316515]	N
834	chr20	32729443	32729444	rs4911414	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Red vs. non-red hair color	5,130 individuals	3,330 individuals	20q11.22	ASIP	rs1015362-G,rs4911414-T	0.08	3E-9		1.76	[1.34-2.31]	Illumina [316515]	N
834	chr20	32729443	32729444	rs4911414	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Freckles	5,130 individuals	3,330 individuals	20q11.22	ASIP	rs1015362-G,rs4911414-T	0.08	8E-29		1.95	[1.65-2.32]	Illumina [316515]	N
834	chr20	32729443	32729444	rs4911414	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Burning and freckling	5,130 individuals	3,330 individuals	20q11.22	ASIP	rs1015362-G,rs4911414-T	0.08	6E-37		2.56	[2.06-3.18]	Illumina [316515]	N
834	chr20	32738611	32738612	rs1015362	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Skin sensitivity to sun	5,130 individuals	3,330 individuals	20q11.22	ASIP	rs1015362-G,rs4911414-T	0.08	2E-24		1.76	[1.49-2.08]	Illumina [316515]	N
834	chr20	32738611	32738612	rs1015362	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Red vs. non-red hair color	5,130 individuals	3,330 individuals	20q11.22	ASIP	rs1015362-G,rs4911414-T	0.08	3E-9		1.76	[1.34-2.31]	Illumina [316515]	N
834	chr20	32738611	32738612	rs1015362	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Freckles	5,130 individuals	3,330 individuals	20q11.22	ASIP	rs1015362-G,rs4911414-T	0.08	8E-29		1.95	[1.65-2.32]	Illumina [316515]	N
834	chr20	32738611	32738612	rs1015362	18488028	Sulem P	2008-05-18	Nat Genet	Two newly identified genetic determinants of pigmentation in Europeans.	Burning and freckling	5,130 individuals	3,330 individuals	20q11.22	ASIP	rs1015362-G,rs4911414-T	0.08	6E-37		2.56	[2.06-3.18]	Illumina [316515]	N
838	chr20	33171771	33171772	rs910873	18488026	Brown KM	2008-05-18	Nat Genet	Common sequence variants on 20q11.22 confer melanoma susceptibility.	Melanoma	864 European ancestry cases, 864 European ancestry controls	1,230 European ancestry cases, 1,251 European ancestry controls	20q11.22	CDC91L1	rs910873-T	0.09	1E-15		1.75	[1.53-2.01]	Illumina [535150]	N
840	chr20	33545615	33545616	rs17310467	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	20q11.22	GSS, EDEM2, PROCR	rs17310467-?,rs6088735-?,rs6060278-?,rs867186-?	0.105	4E-34	(PC levels)	19.273	[16.174-22.372] iu/ml increase GCTG	Illumina [472123]	N
841	chr20	33565754	33565755	rs11906160	22216198	Athanasiadis G	2011-12-28	PLoS One	A genome-wide association study of the Protein C anticoagulant pathway.	Anticoagulant levels	397 European ancestry individuals from 21 families	NA	20q11.22	MYH7B	rs11906160-?	NR	1E-6	(PC)			Illumina [283437]	N
842	chr20	33722862	33722863	rs2295888	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Prothrombin time	2,583 European ancestry individuals	986 European ancestry individuals	20q11.22	MYH7B, EDEM2, TRPC4AP, PROCR	rs2295888-A	NR	5E-13		0.02	[0.012-0.028] unit decrease	Illumina [~ 2500000] (imputed)	N
842	chr20	33730386	33730387	rs6120849	20802025	Tang W	2010-08-27	Blood	Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.	Protein C levels	8,048 European ancestry individuals	1,376 European ancestry individuals	20q11.22	EDEM2	rs6120849-T	0.23	7E-37		0.14	[0.12-0.16] ug/ml decrease	Affymetrix [2461269]	N
842	chr20	33745675	33745676	rs6088735	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	20q11.22	GSS, EDEM2, PROCR	rs17310467-?,rs6088735-?,rs6060278-?,rs867186-?	0.105	4E-34	(PC levels)	19.273	[16.174-22.372] iu/ml increase GCTG	Illumina [472123]	N
842	chr20	33753261	33753262	rs6060278	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	20q11.22	GSS, EDEM2, PROCR	rs17310467-?,rs6088735-?,rs6060278-?,rs867186-?	0.105	4E-34	(PC levels)	19.273	[16.174-22.372] iu/ml increase GCTG	Illumina [472123]	N
842	chr20	33764553	33764554	rs867186	25376901	Munir MS	2014-11-05	Genet Epidemiol	Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.	Protein C levels	2,701 African American individuals	NA	20q11.22	PROCR	rs867186-C	0.09	1E-64		0.49	[0.43-0.55] unit increase	Affymetrix [2649157]	N
842	chr20	33764553	33764554	rs867186	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	20q11.22	PROCR	rs867186-G	0.10	2E-6	(ACVn ratio)	0.37	[0.21-0.53] unit increase	Illumina [472123]	N
842	chr20	33764553	33764554	rs867186	22443383	Oudot-Mellakh T	2012-01-16	Br J Haematol	Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.	Hemostatic factors and hematological phenotypes	951 European ancestry individuals	NA	20q11.22	GSS, EDEM2, PROCR	rs17310467-?,rs6088735-?,rs6060278-?,rs867186-?	0.105	4E-34	(PC levels)	19.273	[16.174-22.372] iu/ml increase GCTG	Illumina [472123]	N
842	chr20	33764553	33764554	rs867186	22216198	Athanasiadis G	2011-12-28	PLoS One	A genome-wide association study of the Protein C anticoagulant pathway.	Anticoagulant levels	397 European ancestry individuals from 21 families	NA	20q11.22	PROCR	rs867186-G	0.077	4E-9	(PC)	0.845	[NR] SD increase	Illumina [283437]	N
842	chr20	33764553	33764554	rs867186	21502573	Smith NL	2011-04-21	Circulation	Genetic predictors of fibrin D-dimer levels in healthy adults.	D-dimer levels	21,052 European ancestry individuals	NA	20q11.22	PROCR	rs867186-G	0.091	4E-6		0.0484	[NR] % increase	Affymetrix, Illumina [2522393] (imputed)	N
842	chr20	33764553	33764554	rs867186	20802025	Tang W	2010-08-27	Blood	Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.	Protein C levels	8,048 European ancestry individuals	1,376 European ancestry individuals	20q11.22	PROCR	rs867186-C	0.10	2E-200		0.47	[0.44-0.50] ug/ml increase	Affymetrix [2461269]	N
842	chr20	33764553	33764554	rs867186	20231535	Smith NL	2010-03-15	Circulation	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	Factor VII levels	15,422 European ancestry individuals	Up to 7,604 European ancestry individuals	20q11.22	PROCR	rs867186-?	NR	6E-37				Affymetrix, Illumina [2734954] (imputed)	N
842	chr20	33775199	33775200	rs11167260	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	20q11.22	PROCR	rs11167260-?		4E-6				Illumina [859311]	N
842	chr20	33777611	33777612	rs6087685	25772935	Germain M	2015-03-12	Am J Hum Genet	Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.	Venous thromboembolism	7,507 European ancestry cases, 52,632 European ancestry controls	3,009 European ancestry cases, 2,586 European ancestry controls	20q11.22	PROCR	rs6087685-C	0.302	2E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [6751884] (imputed)	N
842	chr20	33789141	33789142	rs8114671	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	20q11.22	PROCR	rs8114671-C	0.56	1E-15		1.17	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
842	chr20	33799279	33799280	rs6088765	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q11.22	NR	rs6088765-C	0.4467	1E-6	(EA)	1.0630414	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
842	chr20	33799279	33799280	rs6088765	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	20q11.22	UQCC, CEP250, PROCR	rs6088765-G	0.437	2E-8		1.079	[1.041-1.117]	Affymetrix, Illumina [1230000] (imputed)	N
843	chr20	33849178	33849179	rs1555322	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	20q11.22	MMP24	rs1555322-?	NR	4E-6				Affymetrix [504219]	N
843	chr20	33867696	33867697	rs619865	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Freckling	9,126 European ancestry individuals	NA	20q11.22	ASIP	rs619865-A	0.10	5E-14		0.77	[NR] unit increase	Illumina [535076]	N
843	chr20	33907160	33907161	rs6060369	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	20q11.22	UQCC	rs6060369-T	0.7	8E-32		0.064	[0.05-0.078] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
843	chr20	33907160	33907161	rs6060369	18391950	Lettre G	2008-04-06	Nat Genet	Identification of ten loci associated with height highlights new biological pathways in human growth.	Height	15,821 European ancestry individuals	Up to 17,801 European ancestry individuals	20q11.22	UQCC, GDF5	rs6060369-C	0.36	1E-16		0.44	[0.34-0.72] cm increase	Affymetrix, Illumina [2260683] (imputed)	N
843	chr20	33907160	33907161	rs6060369	18193045	Sanna S	2008-01-13	Nat Genet	Common variants in the GDF5-UQCC region are associated with variation in human height.	Height	1,084 European ancestry cases, 1,287 European ancestry controls, 4,298 European individuals	23,684 European ancestry individuals, 3,860 African American individuals	20q11.22	BFZB	rs6060369-C	0.44	2E-16		0.44	[NR] cm increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
843	chr20	33909783	33909784	rs6088792	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	20q11.22	UQCC, CEP250, GDF5, MMP24, EIF6	rs6088792-T	0.26	8E-7		4.7	[2.74-6.66] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
843	chr20	33914207	33914208	rs6060373	25848760	Sun Y	2015-04-07	PLoS One	A Common Variant Of Ubiquinol-Cytochrome c Reductase Complex Is Associated with DDH.	Developmental dysplasia of the hip	386 Han Chinese ancestry cases, 558 Han Chinese ancestry controls	755 Han Chinese ancestry cases, 944 Han Chinese ancestry controls	20q11.22	UQCC	rs6060373-A	0.72	4E-6		1.35	(1.19-1.53)	Illumina [704516]	N
843	chr20	33914207	33914208	rs6060373	23207799	Deng FY	2012-11-30	Bone	Genome-wide association study identified UQCC locus for spine bone size in humans.	Spine bone size	2,286 European ancestry individuals	2,503 European ancestry individuals, 1,627 Han Chinese ancestry individuals	20q11.22	UQCC	rs6060373-C	0.39	2E-7		0.79	cm^2 increase	Affymetrix [746709]	N
843	chr20	33914207	33914208	rs6060373	18391952	Weedon MN	2008-04-06	Nat Genet	Genome-wide association analysis identifies 20 loci that influence adult height.	Height	13,665 European ancestry individuals	16,482 European ancestry individuals	20q11.22	GDF5	rs6060373-A	0.62	2E-17		0.08	[0.05-0.11] s.d. decrease (males)	Affymetrix [402951]	N
844	chr20	33975180	33975181	rs6088813	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	20q11.22	UQCC	rs6088813-?	0.11	1E-13		0.09	[0.07-0.11] s.d. decrease	Illumina [229216]	N
844	chr20	34019578	34019579	rs224329	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	20q11.22	GDF5	rs224329-T	0.3	2E-30		0.064	[0.05-0.078] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
844	chr20	34023961	34023962	rs224333	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20q11.22	GDF5	rs224333-G	0.6232	3E-8	(EA)	0.0202	[0.013-0.027] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
844	chr20	34023961	34023962	rs224333	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20q11.22	GDF5	rs224333-G	0.6216	9E-12	(EA, men)	0.0359	[0.026-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
844	chr20	34023961	34023962	rs224333	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20q11.22	GDF5	rs224333-G	0.6119	1E-12	(men)	0.0363	[0.026-0.046] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
844	chr20	34023961	34023962	rs224333	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20q11.22	GDF5	rs224333-G	0.6102	7E-9		0.0207	[0.014-0.028] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
844	chr20	34023961	34023962	rs224333	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	20q11.22	GDF5	rs224333-A	0.36	8E-37		1.31	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
844	chr20	34025755	34025756	rs143384	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	20q11.22	GDF5	rs143384-A	0.576	1E-121		0.075	[0.016-0.134] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
844	chr20	34025755	34025756	rs143384	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	20q11.22	GDF5	rs143384-G	0.44	3E-10		0.058	[0.040-0.076] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
844	chr20	34025755	34025756	rs143384	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	20q11.22	GDF5	rs143384-A	0.58	1E-58		0.063	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
845	chr20	34097352	34097353	rs2236164	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	20q11.22	CEP250	rs2236164-T	0.7	3E-24		0.053	[0.039-0.067] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
845	chr20	34097352	34097353	rs2236164	20189936	Okada Y	2010-02-26	Hum Mol Genet	A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.	Height	19,633 Japanese ancestry individuals	NA	20q11.22	UQCC, GDF5	rs2236164-C	0.22	2E-6		0.06	[0.04-0.08] cm increase	Illumina [420885]	N
845	chr20	34125270	34125271	rs6579245	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	20q11.22	ERGIC3	rs6579245-C	0.89	1E-8		0.054	[0.036-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
845	chr20	34126826	34126827	rs6120974	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	20q11.22	ERGIC3	rs6120974-T	0.89	2E-8		0.055	[0.035-0.075] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
845	chr20	34152781	34152782	rs2277862	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	20q11.22	ERGIC3	rs2277862-T	0.15	5E-11		0.035	[NR] unit decrease	NR [NR] (imputed)	N
845	chr20	34152781	34152782	rs2277862	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	20q11.22	ERGIC3	rs2277862-T	0.15	4E-10		1.19	[0.66-1.72] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
847	chr20	34383633	34383634	rs11906854	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	20q11.22	intergenic	rs11906854-G	0.14	7E-6		1.17	[1.09-1.26]	Affymetrix, Illumina [~ 2300000] (imputed)	N
847	chr20	34432669	34432670	rs2425163	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	20q11.23	PHF20	rs2425163-A	0.82	3E-52		0.058	[0.05-0.066] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
849	chr20	34712309	34712310	rs6141600	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	20q11.23	EPB41L1	rs6141600-C	0.28	6E-12		1.21	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
851	chr20	34865239	34865240	rs8115222	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q11.23	C20orf4	rs8115222-G	0.015	4E-6	(Sedentary&light activity )	0.04	[NR] min/d increase	Illumina [899892]	N
855	chr20	35494085	35494086	rs1291101	25517131	Dijkstra AE	2015-02-27	Am J Respir Crit Care Med	Novel Genes for Airway Wall Thickness Identified with Combined Genome Wide Association and Expression Analyses.	Airway wall thickness	2,640 individuals	up to 714 individuals	20q11.23	C20orf117, C20orf118	rs1291101-?	NR	8E-6	(Males only)	0.037	[NR] unit decrease	Illumina [522636]	N
856	chr20	35637397	35637398	rs6030712	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	20q11.23	RBL1	rs6030712-A	0.39	9E-12		0.021	[0.0092-0.0328] unit decrease	Affymetrix, Illumina [2704730] (imputed)	N
857	chr20	35766336	35766337	rs8115854	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	20q11.23	C20orf132	rs8115854-?	NR	2E-6				Illumina [516645]	N
858	chr20	35809782	35809783	rs6031882	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	20q11.23	RPN2	rs6031882-?	NR	6E-6				Illumina [516645]	N
860	chr20	36068388	36068389	rs17194885	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	20q11.23	SRC	rs17194885-A	0.96	4E-6		0.61	[0.36-0.86] unit decrease	Illumina [2675979] (imputed)	N
863	chr20	36469693	36469694	rs4811196	17903296	Kiel DP	2007-09-19	BMC Med Genet	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Bone mineral density	Up to 1,141 individuals from 241 families	NA	20q11.23	CTNNBL1	rs4811196-?	NR	1E-6	(TRBMDf)			Affymetrix [70897]	N
865	chr20	36824719	36824720	rs75727053	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	20q11.23	NR	rs75727053-?	NR	1E-8				Affymetrix [5486770] (imputed)	N
866	chr20	36844037	36844038	rs6127471	23583979	den Hoed M	2013-04-14	Nat Genet	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Heart rate	85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals	88,823 European ancestry individuals	20q11.23	KIAA1755	rs6127471-C	0.54	5E-29		0.429	[0.34-0.52] unit increase	Affymetrix, Illumina [2516789] (imputed)	N
866	chr20	36957836	36957837	rs6024905	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	20q11.23	NR	rs6024905-?	NR	1E-6		1.2399	[NR]	Affymetrix [722112]	N
867	chr20	36977635	36977636	rs11536940	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	20q11.23	LBP	rs11536940-A	0.06	2E-6	(Age 20-60 years)	0.384	[0.23-0.54] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
867	chr20	36977969	36977970	rs1739654	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q11.23	NR	rs1739654-G	0.958833931431119	5E-6	(IGP33)	0.4461	[0.26-0.64] unit increase	Illumina [~ 2500000] (imputed)	N
869	chr20	37279254	37279255	rs220519	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	20q11.23	NR	rs220519-T	NR	5E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
870	chr20	37453193	37453194	rs6065094	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	20q11.23	NR	rs6065094-G	NR	3E-11		1.0752687	[NR]	Illumina [7158791] (imputed)	N
870	chr20	37453193	37453194	rs6065094	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	20q11.23	ACTR5, PPP1R16B, SLC32A1	rs6065094-G	0.678	1E-11		1.0775862	[1.05-1.1]	Affymetrix, Illumina [9005918] (imputed)	N
872	chr20	37690463	37690464	rs926392	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	20q12	DHX35, LOC339568	rs926392-?	0.29	5E-7		2.37	[1.69-3.33]	Affymetrix [832357]	N
873	chr20	37845476	37845477	rs6028335	22488850	Zuo L	2012-04-04	Am J Med Genet B Neuropsychiatr Genet	Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.	Alcohol and nictotine co-dependence	818 European ancestry cases, 1,396 European ancestry controls, 449 African American cases, 480 African American controls	NA	20q12	LOC339568	rs6028335-?	NR	5E-6				Illumina [805814]	N
873	chr20	37873609	37873610	rs932425	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	20q12	intergenic	rs932425-?	NR	5E-6	(SF4)			Affymetrix [5476100] (imputed)	N
875	chr20	38129001	38129002	rs6028466	21460395	Gu J	2011-04-02	Cancer Prev Res (Phila)	A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer.	Telomere length	459 individuals	1,160 individuals	20q12	DHX35	rs6028466-?	NR	3E-7		0.19	[NR] unit increase	Illumina [312531]	N
877	chr20	38300806	38300807	rs6016142	22675492	Prescott J	2012-06-04	PLoS One	Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.	Estradiol levels	1,583 European ancestry female individuals	NA	20q12	intergenic	rs6016142-T	0.11	6E-8		0.179	[NR] unit decrease	Illumina [~ 2500000] (imputed)	N
879	chr20	38552077	38552078	rs2224538	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	20q12	MAFB	rs2224538-T	0.646	2E-8		0.017	[0.011-0.023] unit increase	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
879	chr20	38572413	38572414	rs55734731	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	20q12	HSPEP1	rs55734731-?	0.124	4E-7	(S-CT concentration, adjusted for CYP2C19)			Illumina [7537437] (imputed)	N
879	chr20	38644557	38644558	rs8120917	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q12	MAFB	rs8120917-A	0.0040	6E-6	(Testosterone )	0.03	[NR] ng/mL increase	Illumina [899892]	N
880	chr20	38685540	38685541	rs2870137	21993531	Kuparinen T	2011-10-13	Genes Immun	Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.	Cytomegalovirus antibody response	1,485 European ancestry sero-postitive individuals, 648 European ancestry sero-negative individuals	NA	20q12	intergenic	rs2870137-A	0.12	3E-6		0.256	[0.15-0.36] unit decrease	Illumina [546677]	N
880	chr20	38725185	38725186	rs55970365	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	20q12	intergenic	rs55970365-C	NR	4E-6		1.923077	[NR]	Illumina [up to 9792010] (imputed)	N
881	chr20	38820804	38820805	rs6028945	18615156	Liu C	2008-07-10	Mol Med	Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.	Response to TNF antagonist treatment	89 European ancestry cases	NA	20q12	MAFB	rs6028945-T	0.12	2E-7				Illumina [283348]	N
882	chr20	39028435	39028436	rs8124695	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	20q12	AL049691.1, MAFB	rs8124695-A	0.1	8E-10		1.48	[1.30-1.68]	Illumina [234939]	N
882	chr20	39038827	39038828	rs6016348	21221126	Shen Y	2011-01-11	Pharmacogenomics J	Genome-wide association study of serious blistering skin rash caused by drugs.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	up to 72 European ancestry cases, up to 4,251 European ancestry controls	NA	20q12	MAFB	rs6016348-?	NR	1E-6		2.9	[1.9-4.5]	Illumina [up to 1000000]	N
883	chr20	39091486	39091487	rs2902940	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	20q12	MAFB	rs2902940-G	0.30	2E-11		0.027	[NR] unit decrease	NR [NR] (imputed)	N
883	chr20	39091486	39091487	rs2902940	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	20q12	MAFB	rs2902940-G	0.3	9E-10		0.024	[NR] unit decrease	NR [NR] (imputed)	N
883	chr20	39091486	39091487	rs2902940	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	20q12	MAFB	rs2902940-G	0.33	1E-8		0.98	[0.61-1.35] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
883	chr20	39091486	39091487	rs2902940	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	20q12	MAFB	rs2902940-G	0.29	6E-11		1.38	[0.97-1.79] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
883	chr20	39179821	39179822	rs1883711	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	LDL cholesterol	up 62,166 European ancestry individuals	NA	20q12	MAFB	rs1883711-C	0.04	4E-16		0.153	[0.12-0.19] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
883	chr20	39179821	39179822	rs1883711	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Cholesterol, total	up to 62,166 European ancestry individuals	NA	20q12	MAFB	rs1883711-C	0.04	2E-15		0.147	[0.11-0.18] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
884	chr20	39228783	39228784	rs6102059	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	LDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	20q12	MAFB	rs6102059-T	0.32	4E-9		0.06	[0.03-0.10] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
884	chr20	39269073	39269074	rs13041247	25775280	Sun Y	2015-03-16	Nat Commun	Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.	Nonsyndromic cleft lip with or without cleft palate	858 Chinese ancestry cases, 1,248 Chinese ancestry controls	1,663 Chinese ancestry cases,  1,874 Chinese ancestry controls	20q12	MAFB	rs13041247-T	NR	2E-11		1.32	[1.20-1.41]	Affymetrix [842556]	N
884	chr20	39269073	39269074	rs13041247	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	20q12	NR	rs13041247-T	NR	6E-9	(Meta-All, NSCL/P)	1.19	[1.06-1.35]	NR [497084]	N
885	chr20	39439482	39439483	rs4812466	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	20q12	intergenic	rs4812466-T		6E-6		0.2258	unit increase	Illumina [5767231] (imputed)	N
886	chr20	39471426	39471427	rs6072161	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q12	NR	rs6072161-C	0.573146759127338	3E-7	(IGP22)	0.1589	[0.098-0.22] unit decrease	Illumina [~ 2500000] (imputed)	N
886	chr20	39478532	39478533	rs6102185	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q12	NR	rs6102185-G	0.423097751558326	1E-6	(IGP27)	0.151	[0.09-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
886	chr20	39478532	39478533	rs6102185	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q12	NR	rs6102185-G	0.422812170677362	2E-6	(IGP25)	0.1489	[0.088-0.21] unit increase	Illumina [~ 2500000] (imputed)	N
886	chr20	39478532	39478533	rs6102185	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q12	NR	rs6102185-G	0.422547655372269	5E-6	(IGP34)	0.1429	[0.082-0.204] unit decrease	Illumina [~ 2500000] (imputed)	N
887	chr20	39584710	39584711	rs115299670	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20q12	NR	rs115299670-?	NR	7E-6	(AA)	0.5975	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
887	chr20	39672617	39672618	rs6029526	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	20q12	TOP1	rs6029526-A	0.47	5E-18		0.044	[NR] unit increase	NR [NR] (imputed)	N
887	chr20	39672617	39672618	rs6029526	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	20q12	TOP1	rs6029526-A	0.47	1E-16		0.04	[NR] unit increase	NR [NR] (imputed)	N
887	chr20	39672617	39672618	rs6029526	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	20q12	TOP1	rs6029526-A	0.47	3E-19		1.41	[1.08-1.74] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
888	chr20	39811274	39811275	rs4297946	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	20q12	TOP1	rs4297946-C	0.47	3E-17		1.52	[1.15-1.89] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
890	chr20	40049578	40049579	rs55864139	26098866	Helgason H	2015-06-22	Nat Genet	Loss-of-function variants in ATM confer risk of gastric cancer.	Gastric adenocarcinoma (histologically verified)	2,043 European ancestry cases, 202,533 European ancestry controls	NA	20q12	CHD6	rs55864139-A	0.0029	7E-6		3.12	[1.9-5.11]	Illumina [~ 25000000] (imputed)	N
890	chr20	40064558	40064559	rs13037749	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	20q12	CHD6	rs13037749-A	0.92	8E-6	(White matter hyperintensities)			Illumina [2131250] (imputed)	N
890	chr20	40101646	40101647	rs1010304	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	20q12	CHD6, EMILIN3	rs1010304-A	0.94	7E-6	(WL-dr, EA)			Affymetrix, Illumina [NR] (imputed)	N
890	chr20	40107313	40107314	rs6129846	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	20q12	CHD6, EMILIN3	rs6129846-C	0.94	7E-6	(WL-dr)			Affymetrix, Illumina [NR] (imputed)	N
893	chr20	40493071	40493072	rs10485681	26025128	Park HW	2015-05-27	J Allergy Clin Immunol	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.	Bone mineral accretion in asthma (oral corticosteroid dose interaction)	489 European ancestry children	NA	20q12	intergenic	rs10485681-?		1E-7				Illumina [NR]	N
896	chr20	40840778	40840779	rs7345986	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	20q12	PTPRT	rs7345986-A	0.74	9E-6	(Age 20-60 years)	0.0637	[0.036-0.092] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
897	chr20	40949830	40949831	rs4635580	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	20q12	PTPRT, LOC643172, PPIAL	rs4635580-A	0.031	2E-6		3.8	[2.11-6.84]	Illumina [1556551]	N
897	chr20	40994093	40994094	rs6030171	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q12	NR	rs6030171-C	0.359936573653761	3E-6	(IGP7)	0.148	[0.086-0.21] unit decrease	Illumina [~ 2500000] (imputed)	N
898	chr20	41072654	41072655	rs3890324	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	20q12	PTPRT	rs3890324-C	NR	2E-6	(Fixed effect)	0.06	[0.04-0.08] unit decrease	Illumina [4736131] (imputed)	N
899	chr20	41234577	41234578	rs7263077	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	20q12	PTPRT	rs7263077-G	0.17	6E-6		0.09	[0.051-0.129] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
900	chr20	41409900	41409901	rs13042473	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	20q12	PTPRT	rs13042473-G	0.19	8E-6		0.069	[0.038-0.1] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
900	chr20	41409900	41409901	rs13042473	24315451	van der Valk RJ	2013-12-05	J Allergy Clin Immunol	Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.	Fractional exhaled nitric oxide (childhood)	5,131 European ancestry individuals, 1,155 Hispanic individuals, 2,572 individuals	NA	20q12	PTPRT	rs13042473-G	0.18	2E-6	(EA)	0.09	[0.053-0.127] unit increase	Affymetrix, Illumina [2253077] (imputed)	N
905	chr20	41991600	41991601	rs2010809	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Smooth-surface caries	982 European ancestry individuals	NA	20q13.11	NR	rs2010809-C	0.9883	2E-6		14.0668	[NR] unit decrease	Illumina [1200000] (imputed)	N
906	chr20	42104938	42104939	rs4812712	25758998	Rubicz R	2015-03-11	Eur J Hum Genet	Genome-wide genetic investigation of serological measures of common infections.	Antibody level in response to infection	1,932 Mexican-American individuals	NA	20q13.11	SRSF6, L3MBTL1	rs4812712-A	0.403	5E-8	(C. pneumoniae)	0.18	[NR] unit increase	Illumina [944565]	N
909	chr20	42487203	42487204	rs6103489	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	20q13.12	intergenic	rs6103489-?	NR	4E-6	(SF7)			Affymetrix [5476100] (imputed)	N
909	chr20	42573821	42573822	rs6031252	20585324	Dick DM	2010-06-27	Mol Psychiatry	Genome-wide association study of conduct disorder symptomatology.	Conduct disorder (symptom count)	872 European, African American and other ancestry substance dependence cases, 3,091 European, African American and other ancestry controls	NA	20q13.12	TOX2	rs6031252-A	0.142	6E-6		0.11	[NR] unit decrease	Illumina [948658]	N
911	chr20	42795047	42795048	rs62204504	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	20q13.12	JPH2, C20orf111, LOC100505783	rs62204504-C	0.0355	6E-6		3.22	[2.71-3.73]	Illumina [8809853] (imputed)	N
911	chr20	42854133	42854134	rs6017291	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	20q13.12	RP5-995J12.2	rs6017291-?	NR	6E-6	(Delayed Story Recall)			Illumina [up to 563855]	N
912	chr20	42946965	42946966	rs6017317	22158537	Cho YS	2011-12-11	Nat Genet	Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.	Type 2 diabetes	5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls	18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls	20q13.12	FITM2, R3HDML, HNF4A	rs6017317-G	0.48	1E-11		1.09	[1.07-1.12]	Affymetrix, Illumina [2626356] (imputed)	N
912	chr20	42989266	42989267	rs4812829	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	20q13.12	HNF4A	rs4812829-A	0.16	5E-8		1.07	[1.01-1.12]	Affymetrix, Illumina [2500000] (imputed)	N
912	chr20	42989266	42989267	rs4812829	21874001	Kooner JS	2011-08-28	Nat Genet	Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.	Type 2 diabetes	5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls	13,170 South Asian ancestry cases, 25,398 South Asian ancestry controls	20q13.12	HNF4A	rs4812829-A	0.29	3E-10		1.09	[1.06-1.12]	Illumina [568976]	N
913	chr20	43042363	43042364	rs1800961	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	20q13.12	HNF4A	rs1800961-C	0.96	5E-20		0.149	[0.12-0.18] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
913	chr20	43042363	43042364	rs1800961	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	20q13.12	HNF4A	rs1800961-T	0.05	2E-34		0.127	[NR] unit decrease	NR [NR] (imputed)	N
913	chr20	43042363	43042364	rs1800961	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	20q13.12	HNF4A	rs1800961-T	0.05	1E-24		0.106	[NR] unit decrease	NR [NR] (imputed)	N
913	chr20	43042363	43042364	rs1800961	22939635	Reiner AP	2012-08-28	Am J Hum Genet	Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.	C-reactive protein	8,280 African American female individuals, 3,548 Hispanic female individuals	3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals	20q13.12	HNF4A	rs1800961-T	0.04	8E-6	(HA women)	0.268	[0.15-0.39] unit decrease	Affymetrix [up to 2203609] (imputed)	N
913	chr20	43042363	43042364	rs1800961	21300955	Dehghan A	2011-02-07	Circulation	Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels.	C-reactive protein levels	63,678 European ancestry individuals 1,792 Erasmus Ruchpen individuals, 715 Orcadian individuals	16,540 European ancestry individuals	20q13.12	HNF4A	rs1800961-C	NR	2E-9		0.088	[0.06-0.12] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
913	chr20	43042363	43042364	rs1800961	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	20q13.12	HNF4A	rs1800961-T	0.03	1E-15		1.88	[1.41-2.35] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
913	chr20	43042363	43042364	rs1800961	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	20q13.12	HNF4A	rs1800961-T	0.03	6E-13		4.73	[3.44-6.02] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
913	chr20	43042363	43042364	rs1800961	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	20q13.12	HNF4A	rs1800961-T	0.03	8E-10		0.19	[0.09-0.29] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
913	chr20	43065027	43065028	rs6017342	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	20q13.12	HNF4A, ADA	rs6017342-C	0.53	1E-43		1.228	[1.185-1.273]	Affymetrix, Illumina [1230000] (imputed)	N
913	chr20	43065027	43065028	rs6017342	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	20q13.12	SERINC3	rs6017342-C	0.54	1E-20		1.2	[1.15-1.26]	Affymetrix, Illumina [~ 1100000] (imputed)	N
913	chr20	43065027	43065028	rs6017342	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	20q13.12	HNF4A	rs6017342-C	0.52	9E-17		1.17	[1.09-1.26]	Affymetrix [NR]	N
913	chr20	43068995	43068996	rs4812833	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.12	NR	rs4812833-A	0.52	2E-16	(EA)	1.1088746		Affymetrix, Illumina [~ 9000000] (imputed)	N
913	chr20	43068995	43068996	rs4812833	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.12	NR	rs4812833-A	0.52	9E-6	(EA)	1.0450912		Affymetrix, Illumina [~ 9000000] (imputed)	N
913	chr20	43086647	43086648	rs6073450	26098869	Childs EJ	2015-06-22	Nat Genet	Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.	Pancreatic cancer	7,638 cases, 7,364 controls	2,287 cases, 4,205 controls	20q13.12	intergenic	rs6073450-A	0.381	9E-7		1.11	[1.06-1.15]	Illumina [866891] (imputed)	N
915	chr20	43371319	43371320	rs11696845	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.12	KCNK15, WISP2, RIMS4	rs11696845-A	0.355	5E-7	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
918	chr20	43669640	43669641	rs6065777	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	20q13.12	NR	rs6065777-T	NR	2E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
918	chr20	43721492	43721493	rs6124684	22925353	Lee HJ	2012-08-25	J Affect Disord	A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.	Bipolar disorder	2,191 European ancestry cases, 1,434 European ancestry controls	NA	20q13.12	SERINC3	rs6124684-?	NR	9E-6	(NSM vs. Control)	1.73	[NR]	Affymetrix [703012]	N
918	chr20	43773736	43773737	rs7361168	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q13.12	NR	rs7361168-C	0.758153525448028	3E-6	(IGP15)	0.3571	[0.21-0.51] unit increase	Illumina [~ 2500000] (imputed)	N
920	chr20	43980725	43980726	rs1008953	20953189	Stuart PE	2010-10-17	Nat Genet	Genome-wide association analysis identifies three psoriasis susceptibility loci.	Psoriasis	Up to 1,831 cases, up to 2,546 controls	Up to 4,064 cases, up to 4,685 controls	20q13.12	SDC4	rs1008953-C	0.79	1E-7		1.14	[NR]	Illumina, Perlegen [up to 7456344] (imputed)	N
921	chr20	44124522	44124523	rs11696501	20171287	Stein JL	2010-02-17	Neuroimage	Voxelwise genome-wide association study (vGWAS).	Brain structure	740 European ancestry individuals	NA	20q13.12	WFDC2, SPINT3	rs11696501-?	0.19	9E-7				Illumina [448293]	N
922	chr20	44290132	44290133	rs6065855	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	20q13.12	NR	rs6065855-?	NR	5E-6	(Native Hawaiian)	0.6644	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
924	chr20	44507535	44507536	rs4812973	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20q13.12	NR	rs4812973-?	NR	8E-6	(Native Hawaiian)	0.4476	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
924	chr20	44534650	44534651	rs6065904	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	20q13.12	PLTP	rs6065904-?	NR	2E-31	(L-HDL-L/M-HDL-L)	0.22	[0.18-0.26] unit decrease	Illumina [~ 7700000] (imputed)	N
924	chr20	44534650	44534651	rs6065904	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	20q13.12	PLTP	rs6065904-?	NR	4E-40	(HDL.large, fasting)	0.689	[NR] unit decrease	Illumina [335603]	N
924	chr20	44545047	44545048	rs4810479	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	20q13.12	PLTP	rs4810479-?	0.27	2E-42				Illumina [~ 2000000] (imputed)	N
924	chr20	44551854	44551855	rs6073958	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	20q13.12	PLTP	rs6073958-C	0.21	9E-21		0.068	[0.054-0.082] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
924	chr20	44554014	44554015	rs6065906	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	20q13.12	PLTP	rs6065906-C	0.19	2E-34		0.053	[NR] mg/dL increase	NR [NR] (imputed)	N
924	chr20	44554014	44554015	rs6065906	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	20q13.12	PLTP	rs6065906-C	0.19	5E-40		0.059	[NR] unit decrease	NR [NR] (imputed)	N
924	chr20	44554014	44554015	rs6065906	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	20q13.12	PLTP	rs6065906-C	0.24	5E-18		3.32	[2.5-4.14] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
924	chr20	44554014	44554015	rs6065906	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	20q13.12	PLTP	rs6065906-C	0.18	2E-22		0.93	[0.73-1.13] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
924	chr20	44554014	44554015	rs6065906	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	20q13.12	PLTP	rs6065906-?	NR	8E-37	(HDL.mean.size, fasting)	0.087	[NR] unit decrease	Illumina [335603]	N
924	chr20	44554014	44554015	rs6065906	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	20q13.12	PLTP	rs6065906-?	NR	3E-49	(HDL.large, whole)	0.693	[NR] unit decrease	Illumina [335603]	N
924	chr20	44554014	44554015	rs6065906	19936222	Chasman DI	2009-11-20	PLoS Genet	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	Lipid metabolism phenotypes	Up to 17,296 European ancestry female individuals	Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls	20q13.12	PLTP	rs6065906-?	NR	1E-45	(HDL.mean.size, whole)	0.083	[NR] unit decrease	Illumina [335603]	N
925	chr20	44576501	44576502	rs7679	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	Triglycerides	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	20q13.12	PLTP	rs7679-C	0.19	7E-11		0.07	[0.03-0.11] s.d. increase	Affymetrix, Illumina [~ 2600000] (imputed)	N
925	chr20	44576501	44576502	rs7679	19060906	Kathiresan S	2008-12-07	Nat Genet	Common variants at 30 loci contribute to polygenic dyslipidemia.	HDL cholesterol	19,840 European ancestry individuals	Up to 20,623 European ancestry individuals	20q13.12	PLTP	rs7679-C	0.19	4E-9		0.07	[0.03-0.11] s.d. decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
925	chr20	44590297	44590298	rs6073972	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	20q13.12	PLTP	rs6073972-C	0.81	9E-18		0.065	[0.049-0.081] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
926	chr20	44702119	44702120	rs2425752	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	20q13.12	NCOA5, CD40	rs2425752-A	NR	5E-10		1.11	[1.1-1.13]	Illumina [465434]	N
926	chr20	44740195	44740196	rs6074022	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.12	NR	rs6074022-G	0.2503	8E-11	(EA)	1.0770855	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
926	chr20	44740195	44740196	rs6074022	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.12	NR	rs6074022-G	0.2503	3E-12	(EA)	1.1011126	[1.07-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
926	chr20	44740195	44740196	rs6074022	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	20q13.12	CD40	rs6074022-C	0.27	5E-6		1.15	[NR]	Affymetrix, Illumina [2529394]	N
926	chr20	44740195	44740196	rs6074022	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	20q13.12	CD40	rs6074022-G	0.25	1E-7		1.2	[NR]	Illumina [302098]	N
926	chr20	44742063	44742064	rs1569723	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	20q13.12	CD40, MMP9, PLTP	rs1569723-C	0.259	1E-13		1.091	[1.056-1.126]	Affymetrix, Illumina [1230000] (imputed)	N
926	chr20	44742063	44742064	rs1569723	22446961	Lee YC	2012-03-25	Nat Genet	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.	Kawasaki disease	622 Han Chinese ancestry cases, 1,107 Han Chinese ancestry controls	261 Han Chinese ancestry cases, 550 Han Chinese ancestry controls	20q13.12	CD40	rs1569723-A	0.5480	6E-9		1.415	[1.256-1.594]	Affymetrix [716935]	N
926	chr20	44746981	44746982	rs1883832	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	20q13.12	CD40	rs1883832-T	0.37	3E-15		1.19	[1.14-1.25]	Illumina [3680900] (imputed)	N
926	chr20	44747946	44747947	rs4810485	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	20q13.12	CD40	rs4810485-T	0.25	3E-9		1.18	[1.11-1.25]	Affymetrix, Illumina [~ 2716259] (imputed)	N
926	chr20	44747946	44747947	rs4810485	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	20q13.12	CD40	rs4810485-G	0.75	8E-9		1.15	[NR]	Affymetrix, Illumina [at least 315971] (imputed)	N
926	chr20	44749250	44749251	rs4239702	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	20q13.12	CD40	rs4239702-C	0.72	1E-16	(EA)	1.14	[1.11-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
926	chr20	44749250	44749251	rs4239702	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	20q13.12	CD40	rs4239702-C	0.69	4E-18		1.13	[1.10-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
926	chr20	44761484	44761485	rs12480534	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	20q13.12	intergenic	rs12480534-?	NR	9E-6	(SF2)			Affymetrix [5476100] (imputed)	N
926	chr20	44763283	44763284	rs4813003	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	20q13.12	CD40	rs4813003-C	0.67	5E-8		1.41	[1.20-1.66]	Illumina [463793]	N
927	chr20	44921630	44921631	rs6065945	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q13.12	NR	rs6065945-C	0.470163670388566	5E-6	(IGP18)	0.141	[0.081-0.201] unit increase	Illumina [~ 2500000] (imputed)	N
930	chr20	45288452	45288453	rs6066043	24351856	Nanayakkara S	2013-12-18	J Occup Health	An integrative study of the genetic, social and environmental determinants of chronic kidney disease characterized by tubulointerstitial damages in the North Central Region of Sri Lanka.	Glomerular filtration rate	301 Sri Lankan Sinhalese ancestry cases, 276 Sri Lankan Sinhalese ancestry controls	NA	20q13.12	SLC13A3	rs6066043-A	0.38	2E-9		12.17	[NR] unit increase	Illumina [543848]	N
930	chr20	45288452	45288453	rs6066043	24351856	Nanayakkara S	2013-12-18	J Occup Health	An integrative study of the genetic, social and environmental determinants of chronic kidney disease characterized by tubulointerstitial damages in the North Central Region of Sri Lanka.	Chronic kidney disease	301 Sri Lankan Sinhalese ancestry cases, 276 Sri Lankan Sinhalese ancestry controls	NA	20q13.12	SLC13A3	rs6066043-G	0.62	2E-9		2.13	[NR]	Illumina [543848]	N
931	chr20	45460322	45460323	rs6066084	19197348	Lowe JK	2009-02-06	PLoS Genet	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Quantitative traits	2,906 Kosraen individuals	NA	20q13.12	intergenic	rs6066084-A	0.06	2E-6	(% body fat)	0.85	[NR] % increase	Affymetrix [408775]	N
932	chr20	45497722	45497723	rs6124878	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	20q13.12	EYA2	rs6124878-A	0.06	4E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
932	chr20	45558830	45558831	rs6090583	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20q13.12	EYA2	rs6090583-A	0.4907	2E-10		0.0212	[0.015-0.028] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
932	chr20	45558830	45558831	rs6090583	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20q13.12	EYA2	rs6090583-A	0.4878	6E-10	(women)	0.0275	[0.019-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
932	chr20	45558830	45558831	rs6090583	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20q13.12	EYA2	rs6090583-A	0.48	6E-11	(EA)	0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
932	chr20	45558830	45558831	rs6090583	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	20q13.12	EYA2	rs6090583-A	0.4782	3E-10	(EA, women)	0.0286	[0.02-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
933	chr20	45680501	45680502	rs878131	23400010	Del-Aguila JL	2013-02-12	Pharmacogenomics J	Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.	Thiazide-induced adverse metabolic effects in hypertensive patients	425 European ancestry cases, 342 African American cases	NA	20q13.12	EYA2	rs878131-A	0.25	4E-6	(AA-triglyceride response)	17.21	[9.92-24.5] mg/dL increase	Affymetrix, Illumina [> 2000000] (imputed)	N
934	chr20	45834278	45834279	rs7262634	24503447	Nelson D	2014-02-06	Antivir Ther	Genome-wide association study to characterize serum bilirubin elevations in patients with HCV treated with GS-9256, an HCV NS3 serine protease inhibitor.	Response to protease inhibitor treatment in hepatitis c (bilirubin toxicity)	176 European ancestry individuals	NA	20q13.12	ZMYND8	rs7262634-?	NR	1E-6		25.0	[NR]	Illumina [4466593]	N
936	chr20	46095648	46095649	rs6094710	23989986	Evangelou E	2013-08-29	Ann Rheum Dis	A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.	Osteoarthritis (hip)	up to 4,734 European ancestry cases, up to 46,903 European ancestry controls	up to 6,928 European ancestry cases, up to 20,570 European ancestry controls	20q13.12	NCOA3	rs6094710-A	0.04	2E-10		1.28	[1.18-1.39]	Illumina [2567279] (imputed)	N
937	chr20	46208604	46208605	rs6125048	19176441	Yang JJ	2009-01-28	JAMA	Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.	Response to treatment for acute lymphoblastic leukemia	356 European ancestry cases, 53 Black cases, 78 cases	NA	20q13.12	NCOA3	rs6125048-T	NR	2E-6		2.73	[1.08-6.88]	Affymetrix [476796]	N
939	chr20	46400712	46400713	rs4810685	18937294	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.	Attention deficit hyperactivity disorder (time to onset)	930 European ancestry trios	NA	20q13.12	SULF2	rs4810685-C	NR	7E-6	(earlier onset)			Perlegen [429981]	N
939	chr20	46425575	46425576	rs13038095	20173747	Ellinor PT	2010-02-21	Nat Genet	Common variants in KCNN3 are associated with lone atrial fibrillation.	Atrial fibrillation	1,335 European ancestry cases, 12,844 European ancestry controls	1,164 European ancestry cases, 3,607 European ancestry controls	20q13.12	NR	rs13038095-?	NR	2E-7		1.47	[1.39-1.54]	Affymetrix, Illumina [~ 2500000] (imputed)	N
941	chr20	46668988	46668989	rs1325765	25562672	Byrne EM	2014-12-09	J Clin Psychiatry	Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder.	Seasonality	3,269 European ancestry individuals	887 Old order Amish individuals	20q13.13	MIR1204, PVT1	rs1325765-T	NR	2E-6		0.83	[0.50-1.16] unit decrease	Affymetrix, Illumina [2354422] (imputed)	N
941	chr20	46779234	46779235	rs11086243	21441931	Okamoto K	2011-03-27	Nat Genet	Common variation in GPC5 is associated with acquired nephrotic syndrome.	Nephrotic syndrome (acquired)	195 Japanese ancestry cases, 1,546 Japanese ancestry controls	662 Japanese ancestry cases, 4,919 Japanese ancestry controls	20q13.13	SULF2, PREX1	rs11086243-T	0.23	3E-6		1.37	[1.20-1.57]	Perlegen [205203]	N
942	chr20	46801223	46801224	rs62202398	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		20q13.13	intergenic	rs62202398-?	0.06	9E-6		0.15	[0.091-0.209] unit decrease	Illumina [4058415] (imputed)	N
944	chr20	47088153	47088154	rs13043694	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs13043694-A		3E-6				Illumina [2373249] (imputed)	N
944	chr20	47088153	47088154	rs13043694	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs13043694-A		3E-6				Illumina [2373249] (imputed)	N
944	chr20	47088199	47088200	rs4810796	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs4810796-A		3E-6				Illumina [2373249] (imputed)	N
944	chr20	47088199	47088200	rs4810796	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs4810796-A		3E-6				Illumina [2373249] (imputed)	N
944	chr20	47088731	47088732	rs910191	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs910191-A		2E-6				Illumina [2373249] (imputed)	N
944	chr20	47088731	47088732	rs910191	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs910191-A		2E-6				Illumina [2373249] (imputed)	N
944	chr20	47089524	47089525	rs4402823	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs4402823-T		3E-6				Illumina [2373249] (imputed)	N
944	chr20	47089524	47089525	rs4402823	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs4402823-T		3E-6				Illumina [2373249] (imputed)	N
944	chr20	47089536	47089537	rs4458264	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs4458264-T		3E-6				Illumina [2373249] (imputed)	N
944	chr20	47089536	47089537	rs4458264	23527680	Ebejer JL	2013-04-01	Twin Res Hum Genet	Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.	Attention deficit hyperactivity disorder (combined symptoms)	1,851 individuals	155 individuals	20q13.13	NR	rs4458264-T		3E-6				Illumina [2373249] (imputed)	N
946	chr20	47340116	47340117	rs6066825	26151821	Schumacher FR	2015-07-07	Nat Commun	Genome-wide association study of colorectal cancer identifies six new susceptibility loci.	Colorectal cancer	18,299 European ancestry cases, 19,656 European ancestry controls	4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls	20q13.13	PREX1	rs6066825-A	0.64	4E-9		1.09	[1.06-1.12]	Affymetrix, Illumina [~ 2500000] (imputed)	N
946	chr20	47343058	47343059	rs6063312	17903302	Levy D	2007-09-19	BMC Med Genet	Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.	Tonometry	644 individuals	NA	20q13.13	PREX1	rs6063312-?	NR	2E-6	(RW)			Affymetrix [70897]	N
946	chr20	47379810	47379811	rs2426087	23496005	Luca G	2013-03-18	J Sleep Res	Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.	Narcolepsy with cataplexy	585 European ancestry cases	387 European ancestry cases	20q13.13	NR	rs2426087-?	NR	2E-6	(SE)	10.463	[NR] unit increase	NR [NR]	N
947	chr20	47523864	47523865	rs6095357	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	20q13.13	NR	rs6095357-C	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
947	chr20	47541599	47541600	rs6012564	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	20q13.13	ARFGEF2, STAU1, CSE1L	rs6012564-G	0.406	7E-6	(Temperament)	0.12	[NR] unit increase	Affymetrix [677643]	N
949	chr20	47772263	47772264	rs17450430	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	20q13.13	STAU1	rs17450430-A	0.761	2E-24		0.035	[0.029-0.041] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
950	chr20	47881966	47881967	rs1567865	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	20q13.13	ZNFX1	rs1567865-T	0.21	1E-9		0.063	[0.043-0.083] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
950	chr20	47903018	47903019	rs237743	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	20q13.13	ZNFX1	rs237743-A	0.21	1E-20		0.041	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
951	chr20	47982127	47982128	rs237450	23534349	Jeff JM	2013-03-28	Ann Hum Genet	Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.	QT interval	455 African American individuals	NA	20q13.13	intergenic	rs237450-A		5E-6		6.86	[NR] ms increase	Illumina [> 930000]	N
951	chr20	48019817	48019818	rs6063399	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.13	KCNB1	rs6063399-A	0.45	8E-6	(Fat oxidation )	0.03	[NR] %NPEE increase	Illumina [899892]	N
951	chr20	48042969	48042970	rs6019826	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	20q13.13	NR	rs6019826-T	NR	2E-6		1.08	[NR]	Illumina [7158791] (imputed)	N
951	chr20	48058862	48058863	rs117126031	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	20q13.13	KCNB1	rs117126031-A	0.02	6E-6				Affymetrix, Illumina [14227402] (imputed)	N
951	chr20	48058862	48058863	rs117126031	25663218	Verhaaren BF	2015-07-02	Circ Cardiovasc Genet	Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.	White matter hyperintensity burden	17,936 European ancestry individuals, 1,943 African American ancestry individuals, 795 Hispanic individuals, 204 Chinese ancestry individuals, 201 Malay ancestry individuals	NA	20q13.13	KCNB1	rs117126031-A	0.02	1E-6	(EA)			Affymetrix, Illumina [14227402] (imputed)	N
952	chr20	48131035	48131036	rs7267348	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	20q13.13	NR	rs7267348-C	NR	5E-8		1.0638298	[NR]	Illumina [7158791] (imputed)	N
952	chr20	48131035	48131036	rs7267348	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	20q13.13	KCNB1, PTGIS	rs7267348-C	0.246	5E-8		1.0672358	[1.04-1.09]	Affymetrix, Illumina [9005918] (imputed)	N
953	chr20	48283632	48283633	rs17723576	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	20q13.13	B4GALT5	rs17723576-G	0.11	6E-6		0.108	[0.061-0.155] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
953	chr20	48344310	48344311	rs1980946	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Palmitic acid (16:0) plasma levels	8,961 European ancestry individuals		20q13.13	B4GALT5	rs1980946-C	NR	4E-6		0.298	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
955	chr20	48522329	48522330	rs495337	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Psoriasis	4,212 European ancestry cases, 8,032 European ancestry controls	NA	20q13.13	SPATA2, RNF114	rs495337-A	NR	3E-9		1.1918951	[1.16-1.23]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
955	chr20	48522329	48522330	rs495337	20953189	Stuart PE	2010-10-17	Nat Genet	Genome-wide association analysis identifies three psoriasis susceptibility loci.	Psoriasis	Up to 1,831 cases, up to 2,546 controls	Up to 4,064 cases, up to 4,685 controls	20q13.13	RNF114, SLC9A8, SNAI1, SPATA2	rs495337-G	0.57	2E-7		1.21	[NR]	Illumina, Perlegen [up to 7456344] (imputed)	N
955	chr20	48522329	48522330	rs495337	18364390	Capon F	2008-03-25	Hum Mol Genet	Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.	Psoriasis	318 European ancestry cases, 288 European ancestry controls	2,361 European ancestry cases, 1,927 European ancestry controls	20q13.13	SPATA2	rs495337-?	NR	1E-8		1.25	[1.12-1.39]	Illumina [~ 408000]	N
955	chr20	48554976	48554977	rs2235617	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	20q13.13	ZNF313	rs2235617-?	NR	2E-6		1.2	[1.11-1.30]	Illumina [535475]	N
955	chr20	48566064	48566065	rs73129298	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	20q13.13	RNF114	rs73129298-?	NR	5E-11	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
955	chr20	48575314	48575315	rs11697848	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	20q13.13	RNF114	rs11697848-?	0.051	1E-11		2.115	[1.887-2.37]	Illumina [NR]	N
955	chr20	48591757	48591758	rs6020157	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	20q13.13	RNU6-147P	rs6020157-?	NR	4E-17	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
956	chr20	48632609	48632610	rs7352944	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	20q13.13	RNF114	rs7352944-T	0.5911	2E-7	(EA)	1.19	[1.11-1.27]	Illumina [up to 4778154] (imputed)	N
956	chr20	48632609	48632610	rs7352944	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	20q13.13	RNF114	rs7352944-T	0.5911	2E-6		1.15	[1.09-1.22]	Illumina [up to 4778154] (imputed)	N
958	chr20	48955423	48955424	rs913678	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.13	NR	rs913678-A	0.67	1E-8	(EA)	1.0787014		Affymetrix, Illumina [~ 9000000] (imputed)	N
958	chr20	48955423	48955424	rs913678	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.13	NR	rs913678-A	0.67	5E-11	(EA)	1.0716122		Affymetrix, Illumina [~ 9000000] (imputed)	N
958	chr20	48955423	48955424	rs913678	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	20q13.13	CEBPB	rs913678-T	0.662	5E-8		1.056	[1.024-1.088]	Affymetrix, Illumina [1230000] (imputed)	N
961	chr20	49375241	49375242	rs6122972	21771265	Yosifova A	2011-07-19	Genes Brain Behav	Genome-wide association study on bipolar disorder in the Bulgarian population.	Bipolar disorder	188 Bulgarian ancestry cases, 376 Bulgarian ancestry controls	122 Bulgarian ancestry cases, 328 Bulgarian ancestry controls	20q13.13	PARD6B	rs6122972-A	0.82	3E-6		2.02	[1.46-2.80]	Illumina [497732]	N
962	chr20	49527921	49527922	rs12480328	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	20q13.13	ADNP	rs12480328-T	0.93	5E-11		1.13	[1.10-1.17]	Affymetrix, Illumina [up to 16852405] (imputed)	N
962	chr20	49527921	49527922	rs12480328	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	20q13.13	ADNP	rs12480328-T	0.93	2E-7	(EA)	1.13	[1.08-1.17]	Affymetrix, Illumina [up to 16852405] (imputed)	N
963	chr20	49609676	49609677	rs10470013	26268530	Ramanan VK	2015-08-11	Brain	GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.	Longitudinal change in brain amyloid plaque burden	41 European ancestry Alzheimer's disease cases, 294 European ancestry Mild Cognitive Impairment cases, 160 European ancestry cognitively normal individuals	NA	20q13.13	KCNG1	rs10470013-?	0.11	7E-7		0.73	[0.46-1.00] unit increase	Illumina [6112217] (imputed)	N
963	chr20	49671434	49671435	rs4811117	23918034	Kuhnisch J	2013-08-07	Clin Oral Investig	Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).	Molar-incisor hypomineralization	88 European ancestry cases, 580 European ancestry controls	NA	20q13.13	NFATC2, KCNG1	rs4811117-T	0.124	5E-6		3.13	[1.92-5.13]	Affymetrix [2013491] (imputed)	N
964	chr20	49739859	49739860	rs230014	23459443	Avery CL	2013-03-05	Pharmacogenomics J	Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.	QT interval (interaction)	33,781 European ancestry individuals	NA	20q13.13	RPSAP1	rs230014-A	0.48	4E-6	(Sulfonylurea Hypoglycemic agents)			Affymetrix, Illumina [~ 2500000] (imputed)	N
966	chr20	50036236	50036237	rs6021191	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	20q13.2	NFATC2	rs6021191-T		4E-8		3.109		Affymetrix [NR]	N
966	chr20	50065647	50065648	rs228836	25865494	Chan Y	2015-04-09	Am J Hum Genet	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Sitting height ratio	3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men	NA	20q13.2	NFATC2	rs228836-G	0.411	8E-10	(EA)	0.061	[0.041-0.081] unit increase	Affymetrix, Illumina [up to 10250422] (imputed)	N
967	chr20	50108319	50108320	rs4809847	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	20q13.2	NFATC2	rs4809847-?		5E-6				Illumina [859311]	N
967	chr20	50141263	50141264	rs6021270	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	20q13.2	NFATC2	rs6021270-C	0.0576	7E-9		0.1517	[0.10-0.20] unit decrease	Illumina [2400000] (imputed)	N
968	chr20	50209919	50209920	rs55797066	25158072	Yu D	2014-10-31	Am J Psychiatry	Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.	Tourette's syndrome or obsessive-compulsive disorder	1,310 Ashkenazi Jewish, South African Afrikaner ancestry, and other European ancestry OCD cases, 834 Ashkenazi Jewish, French Canadian and other European ancestry Tourette's Syndrome cases, 579 Ashkenazi Jewish, South African Afrikaner ancestry, French Canadian and other European ancestry OCD and Tourette's syndrome cases, 4,975 European ancestry controls, 338 Ashkenazi Jewish controls, 196 French Canadian controls, 158 South African Afrikaner ancestry controls, 290 European ancestry OCD parent-child trios	NA	20q13.2	SALL4, NFATC2, MIR3194, ATP9A	rs55797066-C	0.06	8E-6		1.33	[NR]	Illumina [7659573] (imputed)	N
970	chr20	50559651	50559652	rs6068020	19478329	Aston KI	2009-05-28	J Androl	Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.	Male infertility	52 European ancestry oligozoospermic cases, 40 European ancestry non-obstructive azoospermic cases, 80 European ancestry controls	NA	20q13.2	SALL4	rs6068020-?	0.49	5E-7	(azoospermia)			Illumina [314776]	N
971	chr20	50637659	50637660	rs6013355	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Subcutaneous adipose tissue	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	20q13.2	ZFP64	rs6013355-A	0.84	5E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
971	chr20	50702632	50702633	rs6013382	17362836	Schymick JC	2007-02-20	Lancet Neurol	Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.	Amyotrophic lateral sclerosis	276 European ancestry cases, 271 European ancestry controls	NA	20q13.2	ZFP64	rs6013382-?	NR	5E-6		1.43	[1.11-1.67]	Illumina [549062]	N
974	chr20	51009756	51009757	rs4811340	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	20q13.2	NR	rs4811340-G		6E-7		1.13	[1.07-1.20]	Affymetrix, Illumina [up to 3437411] (imputed)	N
974	chr20	51087861	51087862	rs6091540	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20q13.2	ZFP64	rs6091540-C	0.725	2E-8		0.019	[0.012-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
974	chr20	51087861	51087862	rs6091540	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20q13.2	ZFP64	rs6091540-C	0.723	8E-8	(EA)	0.019	[0.012-0.026] kg/m2 increase	Affymetrix, Illumina [2550021]	N
974	chr20	51087861	51087862	rs6091540	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20q13.2	ZFP64	rs6091540-C	0.721	2E-11	(EA, women)	0.03	[0.021-0.038] kg/m2 increase	Affymetrix, Illumina [2550021]	N
974	chr20	51092995	51092996	rs13041126	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Obesity	93,015 European ancestry overweight individuals, 32,858 European ancestry  class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls	65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls	20q13.2	MRPS33P4	rs13041126-T	0.72	2E-8	(Obesity I)	1.06	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
976	chr20	51318350	51318351	rs6013509	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	20q13.2	TSHZ2	rs6013509-A	NR	1E-10		0.06	[0.05-0.08] g/dl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
978	chr20	51557160	51557161	rs6097169	23517042	Melen E	2013-04-01	Clin Exp Allergy	Genome-wide association study of body mass index in 23 000 individuals with and without asthma.	Body mass index in non-asthmatics	6,025 European ancestry children, 567 children,  6,334 European ancestry adult individuals, 2,050 adult individuals	NA	20q13.2	intergenic	rs6097169-A	0.10	5E-7	(Children)			Illumina [up to 527642]	N
978	chr20	51583982	51583983	rs10485813	20732625	Neale BM	2010-08-01	J Am Acad Child Adolesc Psychiatry	Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	2,064 European ancestry trios, 896 European ancestry cases, 2,455 European ancestry controls	NA	20q13.2	intergenic	rs10485813-A	NR	8E-6				Affymetrix, Illumina, Perlegen [1206462] (imputed)	N
980	chr20	51778122	51778123	rs118174081	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	20q13.2	NR	rs118174081-?	NR	3E-6				NR [up to 8466825] (imputed)	N
983	chr20	52268994	52268995	rs2041278	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.2	ZNF217	rs2041278-A	0.472	6E-6	(IGFBP-1 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
984	chr20	52349891	52349892	rs6091737	20705733	O'Seaghdha CM	2010-08-12	Hum Mol Genet	Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.	Calcium levels	20,611 European ancestry individuals	NA	20q13.2	intergenic	rs6091737-T	NR	6E-6		0.02	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
985	chr20	52447302	52447303	rs6022786	22885925	Shi Y	2012-08-12	Nat Genet	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.	Polycystic ovary syndrome	2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls	8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls	20q13.2	SUMO1P1	rs6022786-A	0.339	2E-9		1.13	[NR]	Affymetrix [NR] (imputed)	N
986	chr20	52610495	52610496	rs2276498	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	20q13.2	NR	rs2276498-?	NR	7E-6		1.3111	[NR]	Affymetrix [722112]	N
987	chr20	52701292	52701293	rs6064045	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	20q13.2	NR	rs6064045-C	0.521164665033408	7E-6	(IGP29)	0.137	[0.077-0.197] unit decrease	Illumina [~ 2500000] (imputed)	N
987	chr20	52774426	52774427	rs1570669	24068962	O'Seaghdha CM	2013-09-19	PLoS Genet	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	Calcium levels	39,400 European ancestry individuals	Up to 21,679 European ancestry individuals	20q13.2	CYP24A1	rs1570669-A	0.66	9E-12		0.018	[0.012-0.024] unit decrease	Affymetrix, Illumina [2500000] (imputed)	N
987	chr20	52791517	52791518	rs2248359	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	20q13.2	CYP24A1	rs2248359-G	NR	3E-11		1.12	[1.1-1.13]	Illumina [465434]	N
987	chr20	52807220	52807221	rs16999165	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	20q13.2	CYP24A1, PFDN4	rs16999165-T	0.692	2E-8		1.19	[1.12-1.26]	Illumina [606164]	N
988	chr20	52843798	52843799	rs2585417	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.2	PFDN4	rs2585417-A	0.337	5E-6	(Vigorous activity )	0.03	[NR] min/d increase	Illumina [899892]	N
991	chr20	53267110	53267111	rs2023454	20215924	Liu X	2010-01-01	J Am Acad Child Adolesc Psychiatry	A genome-wide association study of amygdala activation in youths with and without bipolar disorder.	Functional MRI	36 European ancestry BD cases, 21 European ancestry controls, 1 African American BD case, 5 African American controls, 2 BD cases, 3 controls	NA	20q13.2	DOK5	rs2023454-?	NR	5E-7	(hostility, right amygdala)	22.0	[NR] % variance	Illumina [104043]	N
992	chr20	53411018	53411019	rs13037755	24068947	Brandler WM	2013-09-12	PLoS Genet	Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.	Relative hand skill	2,666 European ancestry individuals	NA	20q13.2	intergenic	rs13037755-?	0.71	5E-6		0.26	[0.15-0.37] unit increase	Illumina [NR]	N
992	chr20	53414538	53414539	rs157640	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	20q13.2	DOK5	rs157640-G		5E-6				Illumina [944512] (imputed)	N
992	chr20	53462974	53462975	rs1512060	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	20q13.2	intergenic	rs1512060-T	0.0499	6E-6		0.2092	[0.12-0.3] unit decrease	Illumina [2500000] (imputed)	N
995	chr20	53801128	53801129	rs6092078	20195266	Adkins DE	2010-03-02	Mol Psychiatry	Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.	Response to antipsychotic treatment	421 European ancestry, 214 African American, and 103 cases	NA	20q13.2	intergenic	rs6092078-?	0.115	3E-6	(risperidone-hip circumference)			Affymetrix [492900]	N
997	chr20	54126508	54126509	rs11696973	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	20q13.2	intergenic	rs11696973-?	0.86	8E-6		1.15	[1.09-1.22]	Affymetrix, Illumina [~ 2300000] (imputed)	N
998	chr20	54139485	54139486	rs6069325	25628336	Hromatka BS	2015-01-26	Hum Mol Genet	Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.	Motion sickness	80,494 European ancestry individuals	NA	20q13.2	CBLN4	rs6069325-T	0.841	7E-21		0.069	[0.054-0.083] unit increase	Illumina [7428049] (imputed)	N
998	chr20	54191218	54191219	rs73625555	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20q13.2	NR	rs73625555-?	NR	2E-6	(EA)	1.0117	[0.6-1.43] unit decrease	Illumina [up to 11892802] (imputed)	N
998	chr20	54199748	54199749	rs188674761	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20q13.2	NR	rs188674761-?	NR	2E-7	(Latino)	1.1179	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1004	chr20	55018259	55018260	rs7274581	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	20q13.31	CASS4	rs7274581-T	0.917	3E-8		1.1364	[1.09-1.19]	Illumina [7055881] (imputed)	N
1004	chr20	55036546	55036547	rs428445	25367360	Li Q	2014-11-04	Hum Genet	Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.	Refractive astigmatism	8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged 25 years or older, 6,219 Asian ancestry controls aged 25 years or older, 247 Chinese ancestry cases aged less than 25 years, 670 Chinese ancestry controls aged less than 25 years	NA	20q13.31	CASS4, GCNT7	rs428445-T	0.713	2E-6	(Asian, 25 years or older)	1.314	[1.175-1.470]	Affymetrix, Illumina [NR] (imputed)	N
1005	chr20	55101316	55101317	rs28620942	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	20q13.31	FAM209A, RTFDC1, GCNT7	rs28620942-A	0.55	8E-6	(Left HG area)	10.25	unit decrease	Affymetrix, Illumina [4103035] (imputed)	N
1005	chr20	55109303	55109304	rs6024938	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.31	C20orf107	rs6024938-A	0.427	6E-6	(Urinary free norepinephrine )	0.04	[NR] nmol/d increase	Illumina [899892]	N
1006	chr20	55255053	55255054	rs6127813	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	20q13.31	intergenic	rs6127813-T	0.2985	2E-6	(Ordinal II)	0.2843	[0.17-0.4] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1006	chr20	55255053	55255054	rs6127813	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	20q13.31	intergenic	rs6127813-T	0.2984	2E-6	(Case/control)	0.282	[0.16-0.4] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1006	chr20	55255053	55255054	rs6127813	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	20q13.31	intergenic	rs6127813-T	0.2983	3E-6	(Ordinal I)	0.2697	[0.16-0.38] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1008	chr20	55454658	55454659	rs6099314	24621683	Cho MH	2014-02-07	Lancet Respir Med	Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.	Chronic obstructive pulmonary disease (moderate to severe)	5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls	2,651 cases and their relatives	20q13.31	TFAP2C	rs6099314-?	NR	4E-7	(AA)			Illumina [up to 701491] (imputed)	N
1008	chr20	55560999	55561000	rs6025281	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	20q13.31	intergenic	rs6025281-T	0.566	2E-6		0.021	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1009	chr20	55638536	55638537	rs331615	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	20q13.31	BMP7	rs331615-T	0.37	9E-7	(eosinophil count)	0.06	[0.04-0.08] unit increase	Illumina [2178645] (imputed)	N
1009	chr20	55638749	55638750	rs6127921	19846067	Garriock HA	2009-10-19	Biol Psychiatry	A genomewide association study of citalopram response in major depressive disorder.	Response to citalopram treatment	Up to 659 European ancestry responders, up to 121 African American responders, up to 103 Hispanic responders, 408 European ancestry non-responders, 120 African American non-responders, 80 Hispanic non-responders	NA	20q13.31	BMP7	rs6127921-?	0.82	3E-6	(response)	1.64	[1.33-2.04]	Affymetrix [430198]	N
1009	chr20	55638749	55638750	rs6127921	19846067	Garriock HA	2009-10-19	Biol Psychiatry	A genomewide association study of citalopram response in major depressive disorder.	Response to citalopram treatment	Up to 659 European ancestry responders, up to 121 African American responders, up to 103 Hispanic responders, 408 European ancestry non-responders, 120 African American non-responders, 80 Hispanic non-responders	NA	20q13.31	BMP7	rs6127921-?	0.81	1E-6	(remission)	1.75	[1.39-2.17]	Affymetrix [430198]	N
1009	chr20	55683995	55683996	rs11699237	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	20q13.31	intergenic	rs11699237-?	NR	3E-6	(Negative/disorganized symptoms)	0.1221	[NR] unit increase	Affymetrix [696491]	N
1011	chr20	55855792	55855793	rs78404372	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	20q13.31	NR	rs78404372-?	NR	7E-7	(AA)	0.8275	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1012	chr20	55990404	55990405	rs737092	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	20q13.31	RBM38	rs737092-C	0.49	4E-13	(EA, MCV)	0.216	[0.15-0.28] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
1012	chr20	55991694	55991695	rs6092477	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	20q13.31	RBM38	rs6092477-G	0.42	1E-8		0.068	[0.044-0.092] unit decrease	Illumina [561583]	N
1012	chr20	56029603	56029604	rs328506	23300278	Saxena R	2013-01-08	Diabetes	Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.	Type 2 diabetes	842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls	up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls	20q13.31	CTCFL, RBM38, HMG1L1, PCK1	rs328506-C	0.8	2E-6	(South Asians)	1.11	[1.06-1.15]	Illumina [1232008] (imputed)	N
1012	chr20	56044183	56044184	rs6070116	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	20q13.31	CTCFL, RBM38, HMG1L1	rs6070116-G	0.25	4E-6	(chol, sum)			Illumina [~ 2500000] (imputed)	N
1012	chr20	56058354	56058355	rs59972978	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		20q13.31	intergenic	rs59972978-?	0.2	5E-6		0.09	[0.051-0.129] unit decrease	Illumina [4058415] (imputed)	N
1012	chr20	56070504	56070505	rs6025590	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.31	CTCFL, HMG1L1	rs6025590-A	0.308	4E-8	(Sedentary&light activity )	0.04	[NR] min/d increase	Illumina [899892]	N
1012	chr20	56080048	56080049	rs11700100	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	20q13.31	CTCFL	rs11700100-?	NR	8E-6				Affymetrix, Illumina [1348798]	N
1013	chr20	56138039	56138040	rs2070755	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	20q13.31	PCK1	rs2070755-C	NR	9E-7	(Perc15, All)	2.5	[0.34-4.66] unit decrease	Illumina [7600000] (imputed)	N
1013	chr20	56138039	56138040	rs2070755	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	20q13.31	PCK1	rs2070755-C	NR	5E-7	(%LAA-950, All)	0.11	[0.018-0.202] unit increase	Illumina [7600000] (imputed)	N
1013	chr20	56190633	56190634	rs2073145	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	20q13.31	ZBP1	rs2073145-?	NR	2E-6				Illumina [516645]	N
1014	chr20	56252955	56252956	rs157093	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	20q13.31	TMEPAI, ZBP1	rs157093-T	0.26	3E-6	(CVLT-dr, EA)	0.3615	[0.21-0.51] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
1015	chr20	56428704	56428705	rs12481680	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	20q13.32	ZBP1, PMEPA1, PCK1	rs12481680-?	NR	2E-7	(Baseline)	0.22	[0.14-0.30] ng/dL increase	Affymetrix [2543887] (imputed)	N
1016	chr20	56501978	56501979	rs6099847	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.32	TMEPAI, C20orf85	rs6099847-G	0.169	7E-6	(Diet carbohydrate )	0.03	[NR] %energy increase	Illumina [899892]	N
1017	chr20	56663273	56663274	rs6070346	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	20q13.32	intergenic	rs6070346-?	NR	4E-6	(FEV1/FVC decline in asthmatics)	0.1735	[0.1-0.247] unit increase	Illumina [~ 2500000] (imputed)	N
1018	chr20	56796783	56796784	rs4811971	19893584	Kim JJ	2009-11-06	J Hum Genet	Identification of 15 loci influencing height in a Korean population.	Height	8,842 Korean ancestry individuals	NA	20q13.32	ANKRD60	rs4811971-C	0.39	6E-6		0.7	[NR] cm increase	Affymetrix [334546]	N
1021	chr20	57164854	57164855	rs127430	20838585	Smith EN	2010-09-09	PLoS Genet	Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.	Cardiovascular disease risk factors	525 European ancestry individuals	2,265 European ancestry individuals	20q13.32	APCDD1L, STX16	rs127430-G	0.86	1E-6	(waist circumference)	0.19	[0.11-0.27] % SD decrease, SNPxAGE interaction	Illumina [545821]	N
1021	chr20	57193548	57193549	rs6128386	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	20q13.32	LOC149773	rs6128386-?		1E-6				Affymetrix, Illumina [1348798]	N
1022	chr20	57408425	57408426	rs965808	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	20q13.32	GNAS, GNAS-AS1	rs965808-G	0.22	5E-9	(NESPAS-ICR)			Illumina [515966]	N
1023	chr20	57469072	57469073	rs6026584	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (BUN)	39,717 East Asian ancestry individuals	17,461 East Asian ancestry individuals	20q13.32	GNAS	rs6026584-T	0.32	9E-9		0.0052	[0.0034-0.0070] mg/dl increase	Affymetrix, Illumina [2281523] (imputed)	N
1023	chr20	57475190	57475191	rs13831	21184583	Zlojutro M	2010-11-02	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.	Event-related brain oscillations	431 European ancestry alcohol dependence cases, 340 European ancestry controls, 209 African American alcohol dependence cases, 84 African American controls	683 alcohol dependence cases and 412 controls from multiplex families	20q13.32	GNAS1	rs13831-T	0.24	6E-6		0.21	[0.11-0.31] uV decrease	Illumina [951071]	N
1024	chr20	57562101	57562102	rs2273359	23753411	Turner ST	2013-06-10	Hypertension	Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide.	Response to diuretic therapy in hypertension	424 European ancestry individuals	841 European ancestry individuals	20q13.32	TH1L, EDN3, GNAS	rs2273359-C	0.04	6E-8		8.15	[NR] mm Hg increase	Illumina [1092841] (imputed)	N
1024	chr20	57587770	57587771	rs4812048	24026423	Shameer K	2013-09-12	Hum Genet	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.	Mean platelet volume	6,291 European ancestry individuals	NA	20q13.32	CTSZ	rs4812048-C	NR	7E-6		0.09	[NR] unit increase	Illumina [476395]	N
1024	chr20	57587770	57587771	rs4812048	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Mean platelet volume	16,948 European ancestry individuals, 1,652 Val Borbera individuals	Up to 18,838 European ancestry individuals	20q13.32	TUBB1, CTSZ	rs4812048-C	NR	1E-9		0.008	[0.006-0.01] ln(fl) increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1024	chr20	57614001	57614002	rs151361	22423221	Qayyum R	2012-03-08	PLoS Genet	A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.	Mean platelet volume	16,388 African American individuals	NA	20q13.32	TUBB1, SLMO2	rs151361-A	0.257	9E-9	(Platelet Count)	4.49	[2.96-6.02] 10^9 L increase	Affymetrix, Illumina [~ 2200000] (imputed)	N
1025	chr20	57728347	57728348	rs259991	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	20q13.32	ZNF831	rs259991-G	0.05	3E-6	(HRTSE)	1.78	[1.04-2.52] unit decrease	Illumina [799713]	N
1025	chr20	57751116	57751117	rs6015450	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	20q13.32	EDN3, GNAS	rs6015450-G	0.12	4E-23		0.896	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1025	chr20	57751116	57751117	rs6015450	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	20q13.32	EDN3, GNAS	rs6015450-G	0.12	4E-14		0.11	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1025	chr20	57751116	57751117	rs6015450	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	20q13.32	EDN3, GNAS	rs6015450-G	0.12	6E-23		0.557	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
1025	chr20	57751116	57751117	rs6015450	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	20q13.32	EDN3, GNAS	rs6015450-G	0.07	2E-6	(Pulse Pressure)	0.352	[0.21-0.49] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1025	chr20	57751116	57751117	rs6015450	21909110	Wain LV	2011-09-11	Nat Genet	Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.	Blood pressure	74,064 European ancestry individuals	48,607 European ancestry individuals	20q13.32	EDN3, GNAS	rs6015450-G	0.07	2E-12	(Mean Arterial Pressure)	0.521	[0.38-0.67] mmHg increase	Affymetrix, Illumina, Perlegen [NR] (imputed)	N
1025	chr20	57758719	57758720	rs16982520	19430479	Levy D	2009-05-10	Nat Genet	Genome-wide association study of blood pressure and hypertension.	Hypertension	29,136 European ancestry individuals	34,433 European ancestry individuals	20q13.32	EDN3, ZNF831	rs16982520-A	0.88	2E-7		0.13	[0.09-0.17] log odds decrease	Affymetrix, Illumina [2533153] (imputed)	N
1025	chr20	57790435	57790436	rs12625057	19875103	Aberg K	2009-10-27	Biol Psychiatry	Genomewide association study of movement-related adverse antipsychotic effects.	Response to antipsychotic therapy (extrapyramidal side effects)	421 European ancestry schizophrenia cases, 214 African American schizophrenia cases, 103 schizophrenia cases	NA	20q13.32	ZNF831	rs12625057-?	NR	7E-6	(SAS)			Affymetrix [492000]	N
1026	chr20	57824308	57824309	rs259964	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.32	NR	rs259964-A	0.4586	4E-6	(EA)	1.0585915	[1.03-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1026	chr20	57824308	57824309	rs259964	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.32	NR	rs259964-A	0.4586	7E-12	(EA)	1.0697858	[1.05-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1026	chr20	57824308	57824309	rs259964	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.32	NR	rs259964-A	0.4586	2E-9	(EA)	1.07394	[1.05-1.1]	Affymetrix, Illumina [~ 9000000] (imputed)	N
1026	chr20	57824308	57824309	rs259964	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	20q13.32	ZNF831, CTSZ	rs259964-A	0.464	1E-12		1.085	[1.054-1.116]	Affymetrix, Illumina [1230000] (imputed)	N
1028	chr20	58177614	58177615	rs6026990	22491018	Wang J	2012-04-10	Pharmacogenomics J	Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.	Response to tocilizumab in rheumatoid arthritis	1,157 European and other ancestry rheumatoid arthritis cases	526 European and other ancestry rheumatoid arthritis cases	20q13.32	intergenic	rs6026990-?	0.086	6E-7	(CHAQ , EA, RF-)	0.63	[NR] unit increase	Illumina [534053]	N
1029	chr20	58253437	58253438	rs7266699	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	20q13.32	NR	rs7266699-C	NR	4E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
1033	chr20	58799035	58799036	rs6100794	25524916	Palmer ND	2014-12-18	Diabetes	Genetic Variants Associated with Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.	Glucose homeostasis traits	up to 4,176 Mexican American individuals	NA	20q13.33	AX747739	rs6100794-?		5E-6	(SI)	0.63	[0.16-1.1] unit decrease	Illumina [693128]	N
1034	chr20	58895845	58895846	rs11698685	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	20q13.33	RP5-1043L13.1	rs11698685-G	0.68	1E-6	(ESRD)	1.27	[1.15-1.39]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1034	chr20	58896714	58896715	rs6027506	23028342	Sandholm N	2012-09-20	PLoS Genet	New susceptibility loci associated with kidney disease in type 1 diabetes.	Type 1 diabetes nephropathy	Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy	Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy	20q13.33	RP5-1043L13.1	rs6027506-A	0.63	5E-6	(ESRD vs. non-ESRD)	1.22	[1.12-1.32]	Affymetrix, Illumina [~ 2500000] (imputed)	N
1034	chr20	58898208	58898209	rs6027511	22903471	Hibar DP	2012-08-18	Brain Imaging Behav	Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects.	Lentiform nucleus volume	162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families	NA	20q13.33	intergenic	rs6027511-C	0.17	9E-6		122.24	[NR] unit decrease	Illumina [2380200] (imputed)	N
1034	chr20	58946488	58946489	rs55681231	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (MHPG)	up to 398 European ancestry individuals	NA	20q13.33	AK309218	rs55681231-A		7E-7		0.3144	unit increase	Illumina [5767231] (imputed)	N
1037	chr20	59268709	59268710	rs6027755	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	20q13.33	intergenic	rs6027755-A	0.39	6E-6	(Fibrosis)	1.09	[NR] unit increase	Illumina [324623]	N
1038	chr20	59422970	59422971	rs4812219	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	20q13.33	intergenic	rs4812219-?		7E-7	(overall survival)	3.27	[2.05-5.23]	Illumina [729737]	N
1040	chr20	59765294	59765295	rs860148	23934736	Yu B	2013-08-11	Genet Epidemiol	Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.	Metabolite levels  (X-11787)	1,260 African American individuals	NA	20q13.33	CDH4	rs860148-C		8E-6		0.04	[0.02-0.05] unit increase	Affymetrix [~ 2500000] (imputed)	N
1041	chr20	59853937	59853938	rs1970546	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Volumetric brain MRI	705 European ancestry individuals	NA	20q13.33	CDH4	rs1970546-?	NR	4E-8	(ATCBV)			Affymetrix [70897]	N
1042	chr20	59928236	59928237	rs4468878	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	20q13.33	AL365229.1	rs4468878-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1042	chr20	59947043	59947044	rs4925189	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal T-tau levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	20q13.33	CDH4	rs4925189-G	NR	6E-7	(AD)			Illumina [498205]	N
1043	chr20	60106872	60106873	rs116896199	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	20q13.33	NR	rs116896199-?	NR	5E-6				NR [up to 8466825] (imputed)	N
1044	chr20	60212493	60212494	rs2024714	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	20q13.33	CDH4	rs2024714-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
1044	chr20	60243410	60243411	rs944260	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	20q13.33	CDH4	rs944260-?	0.24	2E-6	(Additive)	1.1	[1.06-1.14]	Affymetrix [319222]	N
1044	chr20	60258850	60258851	rs16985437	24144296	Cheng CY	2013-08-08	Am J Hum Genet	Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.	Axial length	12,531 European ancestry individuals	8,216 Asian ancestry individuals	20q13.33	CDH4	rs16985437-A	0.0092	3E-6		0.4569	[0.27-0.65] unit increase	Illumina [2500000] (imputed)	N
1044	chr20	60265852	60265853	rs16985452	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	20q13.33	NR	rs16985452-T	0.9675	3E-6	(Cis/trans-18:2, EA)	0.0137	[0.008-0.0194] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
1045	chr20	60293562	60293563	rs16985493	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine - clinic-based	5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls	NA	20q13.33	intergenic	rs16985493-A	0.04	4E-6		1.37	[1.20-1.57]	Affymetrix, Illumina [~ 2300000] (imputed)	N
1045	chr20	60381798	60381799	rs4925295	23279374	Athanasiadis G	2013-01-02	J Thromb Haemost	Genetic determinants of plasma &#x003b2;&#x02082;-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.	&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels	306 European ancestry individuals	NA	20q13.33	CDH4	rs4925295-A	0.16	2E-6		0.52	unit decrease	Illumina [283437]	N
1046	chr20	60508181	60508182	rs6061910	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.33	CDH4	rs6061910-A	0.063	4E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
1046	chr20	60508181	60508182	rs6061910	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.33	CDH4	rs6061910-A	0.063	1E-7	(IGFBP-3 )	0.04	[NR] ng/mL increase	Illumina [899892]	N
1046	chr20	60514223	60514224	rs4925325	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.33	CDH4	rs4925325-A	0.381	7E-6	(LDL )	0.03	[NR] mg/dL increase	Illumina [899892]	N
1049	chr20	60890808	60890809	rs147619472	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	20q13.33	NR	rs147619472-?	NR	4E-6	(Japanese)	0.6915	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
1049	chr20	60921043	60921044	rs4925386	20972440	Houlston RS	2010-10-24	Nat Genet	Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.	Colorectal cancer	3,334 European ancestry cases, 4,628 European ancestry controls	14,851 European ancestry cases, 15,569 European ancestry controls	20q13.33	LAMA5	rs4925386-C	NR	2E-10		1.08	[1.05-1.10]	Illumina [up to 550000] (imputed)	N
1050	chr20	60969450	60969451	rs2427308	25990418	Al-Tassan NA	2015-05-20	Sci Rep	A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.	Colorectal cancer	7,577 European ancestry cases, 9,979 European ancestry controls	NA	20q13.33	LAMA5	rs2427308-C	0.78	3E-11		1.19	[NR]	Affymetrix, Illumina [~ 10000000] (imputed)	N
1050	chr20	60969450	60969451	rs2427308	24737748	Whiffin N	2014-04-15	Hum Mol Genet	Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.	Colorectal cancer	5,626 European ancestry cases, 7,817 European ancestry controls	14,037 European ancestry cases, 15,937 European ancestry controls	20q13.33	LAMA5	rs2427308-C	0.78	3E-11		1.235	[NR]	Illumina [NR] (imputed)	N
1050	chr20	61015610	61015611	rs2427345	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	20q13.33	GTPBP5, HRH3, MIR1-1, MIR133A2, MIR4758, OSBPL2, RPS21, LAMA5, ADRM1, C20orf15, C20orf151, C20orf166, C20orf166-AS1, CABLES2, GATA5	rs2427345-G	0.63	4E-8		1.06	[1.03-1.1]	Illumina [~ 2600000] (imputed)	N
1054	chr20	61491493	61491494	rs17854409	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.33	TCFL5	rs17854409-G	0.055	9E-6	(Cortisol )	0.02	[NR] ng/mL increase	Illumina [899892]	N
1055	chr20	61669035	61669036	rs6089829	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	20q13.33	LOC63930	rs6089829-?	NR	3E-6	(rs2735839)	1.3514	[1.19-1.54]	Affymetrix, Illumina [1117531] (imputed)	N
1055	chr20	61693605	61693606	rs6062788	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20q13.33	LOC63930	rs6062788-A	0.467	4E-6	(EA, women)	0.022	[0.012-0.031] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1056	chr20	61854451	61854452	rs6011674	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytadine analogues (cytosine arabinoside)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	20q13.33	YTHDF1	rs6011674-?		2E-6				Affymetrix, Illumina [1348798]	N
1057	chr20	61895919	61895920	rs1406961	21779381	Schurks M	2011-07-14	PLoS One	Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.	Cardiovascular disease risk factors	5,122 European ancestry female migrain cases	NA	20q13.33	intergenic	rs1406961-?	NR	5E-7	(migraineurs with aura - CVD death)	12.33	[4.62-32.87]	Illumina [339596]	N
1057	chr20	61992699	61992700	rs183345681	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	20q13.33	CHRNA4	rs183345681-A	NR	5E-7	(Perc15, All)	2.4	[1.48-3.32] unit increase	Illumina [7600000] (imputed)	N
1057	chr20	61992699	61992700	rs183345681	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	20q13.33	CHRNA4	rs183345681-A	NR	2E-7	(%LAA-950, All)	0.12	[0.075-0.165] unit decrease	Illumina [7600000] (imputed)	N
1059	chr20	62155110	62155111	rs427230	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	20q13.33	NR	rs427230-T	NR	4E-8		1.12	[NR]	Illumina [7158791] (imputed)	N
1060	chr20	62269749	62269750	rs75691080	26237428	Law MH	2015-08-03	Nat Genet	Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.	Cutaneous malignant melanoma	12,874 European ancestry cases, 23,203 European ancestry controls	785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls	20q13.33	RTEL1	rs75691080-T	0.095	1E-6		0.16	[NR] unit decrease	Affymetrix, Illumina [at least 1569314] (imputed)	N
1060	chr20	62297801	62297802	rs6011002	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	20q13.33	RTEL1	rs6011002-?	NR	3E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
1060	chr20	62309838	62309839	rs6010620	24908248	Walsh KM	2014-06-08	Nat Genet	Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.	Glioma (high-grade)	1,013 European ancestry cases, 6,595 European ancestry controls	631 European ancestry cases, 1,141 European ancestry controls	20q13.33	RTEL1	rs6010620-G	0.76	5E-19		1.56	[1.42-1.72]	Affymetrix, Illumina [2362330] (imputed)	N
1060	chr20	62309838	62309839	rs6010620	22886559	Rajaraman P	2012-08-11	Hum Genet	Genome-wide association study of glioma and meta-analysis.	Glioma	1,856 European ancestry cases, 4,955 European ancestry controls	5,015 European ancestry cases, 11,601 European ancestry controls	20q13.33	TNFRSF6B, RTEL1	rs6010620-G	.771	1E-10		1.43	[1.28-1.59]	Illumina [559977]	N
1060	chr20	62309838	62309839	rs6010620	21531791	Sanson M	2011-04-29	Hum Mol Genet	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	Glioma	4,147 European ancestry cases, 7,435 European ancestry controls	NA	20q13.33	RTEL1	rs6010620-?	NR	2E-9		1.24	[NR]	Illumina [424460]	N
1060	chr20	62309838	62309839	rs6010620	19578367	Shete S	2009-07-05	Nat Genet	Genome-wide association study identifies five susceptibility loci for glioma.	Glioma	1,878 European ancestry cases, 3,670 European ancestry controls	2,545 European ancestry cases, 2,953 European ancestry controls	20q13.33	RTEL1	rs6010620-G	0.23	3E-12		1.28	[1.21-1.35]	Illumina [454576]	N
1060	chr20	62309838	62309839	rs6010620	19578366	Wrensch M	2009-07-05	Nat Genet	Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.	Glioma (high-grade)	692 European ancestry cases, 3,992 European ancestry controls	176 cases, 174 controls	20q13.33	RTEL1	rs6010620-G	0.77	3E-9		1.52	[1.32-1.75]	Illumina [326506]	N
1060	chr20	62318219	62318220	rs4809324	19578366	Wrensch M	2009-07-05	Nat Genet	Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.	Glioma (high-grade)	692 European ancestry cases, 3,992 European ancestry controls	176 cases, 174 controls	20q13.33	RTEL1	rs4809324-C	0.10	2E-9		1.6	[1.37-1.87]	Illumina [326506]	N
1060	chr20	62327581	62327582	rs2297441	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	20q13.33	TNFRSF6B, SLC2A4RG, STMN3, ZBTB46, ZGPAT, RTEL1	rs2297441-A	0.77	2E-10		1.09	[1.04-1.15]	Affymetrix, Illumina [~ 1100000] (imputed)	N
1060	chr20	62328741	62328742	rs909341	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	20q13.33	TNFRSF6B	rs909341-G	NR	8E-10		1.316	[1.205-1.429]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
1060	chr20	62329098	62329099	rs6062496	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.33	NR	rs6062496-?	NR	2E-33	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
1060	chr20	62343955	62343956	rs2315008	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	20q13.33	TNFRSF6B	rs2315008-G	0.69	9E-15		1.36	[1.05-1.76]	Illumina [NR]	N
1060	chr20	62348906	62348907	rs6062504	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.33	NR	rs6062504-G	0.69	1E-8	(EA)	1.0814869		Affymetrix, Illumina [~ 9000000] (imputed)	N
1060	chr20	62348906	62348907	rs6062504	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	20q13.33	NR	rs6062504-A	0.69	8E-17	(EA)	1.1168494		Affymetrix, Illumina [~ 9000000] (imputed)	N
1060	chr20	62348906	62348907	rs6062504	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	20q13.33	LIME1, TNFRSF6B, SLC2A4RG, ZGPAT	rs6062504-G	0.684	1E-23		1.104	[1.071-1.139]	Affymetrix, Illumina [1230000] (imputed)	N
1060	chr20	62349585	62349586	rs4809330	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	20q13.33	SLC2A4RG, TNFRS-F6B, RTEL1	rs4809330-G	0.709	3E-15		1.12	[1.06-1.18]	Affymetrix, Illumina [953241] (imputed)	N
1060	chr20	62362562	62362563	rs6062509	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	20q13.33	STMN3, ZBTB46, ZGPAT, ABHD16B, ARFRP1, C20orf195, DNAJC5, EEF1A2, GMEB2, LIME1, LOC100505815, MIR1914, MIR647, MIR941-1, MIR941-2, MIR941-3, MIR941-4, PPDPF, PRIC285, PRPF6, PTK6, RTEL1, RTEL1-TN, RTEL1-TNFRSF6B, SAMD10, SRMS, TNFRSF6B, TPD52L2, UCKL1, SLC2A4RG, UCKL1-AS1, ZNF512B	rs6062509-A	0.7	4E-16		1.12	[1.09-1.16]	Illumina [~ 2600000] (imputed)	N
1061	chr20	62409712	62409713	rs6062314	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	20q13.33	ZBTB46	rs6062314-A	NR	1E-7		1.16	[1.14-1.19]	Illumina [465434]	N
1061	chr20	62418336	62418337	rs2315656	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	20q13.33	ZBTB46	rs2315656-G	0.395	4E-6	(CRP )	0.03	[NR] ng/mL increase	Illumina [899892]	N
1063	chr20	62696023	62696024	rs6062344	25436638	Malinowski JR	2014-12-01	PLoS One	Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.	Serum thyroid-stimulating hormone levels	4,501 European ancestry individuals, 351 African American individuals	NA	20q13.33	TCEA2	rs6062344-T	0.4	4E-6	(AA)	0.18	[0.1-0.26] unit increase	Illumina [up to 905285]	N
1063	chr20	62729430	62729431	rs2229205	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	20q13.33	OPRL1	rs2229205-T	0.18	7E-6		0.04	[0.02-0.06] unit increase	Illumina [1632371] (imputed)	N
1063	chr20	62737567	62737568	rs4809401	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	20q13.33	NPBWR2	rs4809401-T	0.87	8E-6		0.021	[0.012-0.03] kg/m2 increase	Affymetrix, Illumina [2550021]	N
1064	chr20	62886503	62886504	rs6011368	25656473	de With SA	2015-02-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of lymphoblast cell viability after clozapine exposure.	Clozapine-induced cytotoxicity	90 European ancestry lymphoblast cell lines	NA	20q13.33	PCMTD2	rs6011368-?	NR	8E-7	(AUC)			NR [2092490]	N
668	chr21	10971950	10971951	rs10439884	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	21p11.2	BAGE2, TPTE, BAGE	rs10439884-A		2E-6				Illumina [944512] (imputed)	N
668	chr21	11002010	11002011	rs240444	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	21p11.2	NR	rs240444-?	NR	2E-6		1.3094	[NR]	Affymetrix [722112]	N
698	chr21	14928354	14928355	rs9975691	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neurofibrillary tangles	up to 4,707 individuals	NA	21q11.2	intergenic	rs9975691-G	0.6255	6E-6	(Ordinal I)	0.2307	[0.13-0.33] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
702	chr21	15408033	15408034	rs2822388	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	21q11.2	LIP1, ABCC13	rs2822388-A	0.98	5E-7		0.86	[0.53-1.19] unit decrease	Affymetrix, Illumina [up to 2600000] (imputed)	N
702	chr21	15408033	15408034	rs2822388	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	21q11.2	C21orf81	rs2822388-G	0.02	5E-7	(cohort study)	2.3809524	[1.69-3.33]	Affymetrix, Illumina [up to 2600000] (imputed)	N
704	chr21	15681993	15681994	rs2192161	23738518	Luciano M	2013-06-05	Genes Brain Behav	A genome-wide association study for reading and language abilities in two population cohorts.	Non-word repetition	6,649 European ancestry children and adolescents	NA	21q11.2	ABCC13	rs2192161-A	0.06	7E-8		0.198	[0.13-0.27] unit increase	Illumina [~ 2400000] (imputed)	N
705	chr21	15845051	15845052	rs1006899	19079262	Styrkarsdottir U	2008-12-14	Nat Genet	New sequence variants associated with bone mineral density.	Bone mineral density (spine)	6,865 European ancestry individuals	8,510 European ancestry individuals	21q11.2	NR	rs1006899-A	0.84	6E-6		0.09	[0.05-0.13] s.d. decrease	Illumina [305051]	N
705	chr21	15853434	15853435	rs2822687	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	21q11.2	SAMSN1	rs2822687-T	NR	7E-7		4.964	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
709	chr21	16340288	16340289	rs2229741	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	21q11.2	NRIP1	rs2229741-?	0.4726	6E-7	(SRM)			Illumina [475971]	N
710	chr21	16462267	16462268	rs2823048	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis in non-asthmatics	249 European ancestry cases, 164 Latino cases, 248 African American/Afro-Caribbean cases, 674 European ancestry controls, 588 Latino controls, 464 African American/Afro-Caribbean controls	NA	21q21.1	NR	rs2823048-?	0.19	8E-7	(EA)	1.92	[1.28-3.85]	Affymetrix, Illumina [NR] (imputed)	N
710	chr21	16465148	16465149	rs2823053	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis in non-asthmatics	249 European ancestry cases, 164 Latino cases, 248 African American/Afro-Caribbean cases, 674 European ancestry controls, 588 Latino controls, 464 African American/Afro-Caribbean controls	NA	21q21.1	NR	rs2823053-?	0.18	8E-7	(EA)	1.96	[1.28-4.35]	Affymetrix, Illumina [NR] (imputed)	N
711	chr21	16520831	16520832	rs2823093	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	21q21.1	NRIP1	rs2823093-G	0.73	7E-16		1.09	[1.06-1.11]	Affymetrix, Illumina [~ 2600000] (imputed)	N
711	chr21	16590031	16590032	rs57126985	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	21q21.1	NRIP1	rs57126985-C	0.03	6E-6		1.754386	[1.52-1.99]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
713	chr21	16805219	16805220	rs1736135	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	21q21.1	intergenic	rs1736135-T	NR	2E-7		1.06	[NR]	Illumina [266047]	N
713	chr21	16805219	16805220	rs1736135	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	21q21.1	intergenic	rs1736135-T	0.57	7E-9		1.18	[NR]	Affymetrix, Illumina [635547] (imputed)	N
713	chr21	16806708	16806709	rs1297258	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	21q21.1	NR	rs1297258-?	NR	5E-30	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
713	chr21	16812551	16812552	rs1736020	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	21q21.1	intergenic	rs1736020-C	0.579	9E-12		1.16	[1.11-1.21]	Affymetrix, Illumina [953241] (imputed)	N
713	chr21	16817050	16817051	rs1297265	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	21q21.1	intergenic	rs1297265-A	0.56	7E-13		1.11	[1.06-1.15]	Affymetrix, Illumina [~ 1100000] (imputed)	N
713	chr21	16817937	16817938	rs2823286	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	21q21.1	NR	rs2823286-G	0.71	2E-12	(EA)	1.1033705		Affymetrix, Illumina [~ 9000000] (imputed)	N
713	chr21	16817937	16817938	rs2823286	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	21q21.1	NR	rs2823286-A	0.71	1E-24	(EA)	1.1480856		Affymetrix, Illumina [~ 9000000] (imputed)	N
713	chr21	16817937	16817938	rs2823286	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	21q21.1	intergenic	rs2823286-G	0.708	9E-30		1.157	[1.121-1.194]	Affymetrix, Illumina [1230000] (imputed)	N
714	chr21	16914904	16914905	rs2823357	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	21q21.1	USP25	rs2823357-A	0.38	6E-7		1.15	[1.09-1.21]	Illumina [522782]	N
715	chr21	17069165	17069166	rs2823455	19165232	Otowa T	2009-01-23	J Hum Genet	Genome-wide association study of panic disorder in the Japanese population.	Panic disorder	200 Japanese ancestry cases, 200 Japanese ancestry controls	NA	21q21.1	USP25	rs2823455-?	0.03	9E-6				Affymetrix [253903]	N
718	chr21	17483132	17483133	rs2823615	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q21.1	C21orf34	rs2823615-A	0.178	5E-8	(Sleep RQ)	0.04	[NR] unit increase	Illumina [899892]	N
718	chr21	17562283	17562284	rs78211511	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	21q21.1	NR	rs78211511-?	NR	3E-7	(Native Hawaiian)	1.0443	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
719	chr21	17667719	17667720	rs2823743	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	21q21.1	C21orf34	rs2823743-C	0.14	1E-6	(IL6)			Illumina [588352]	N
720	chr21	17768523	17768524	rs2823779	24785509	Barnett GC	2014-04-28	Radiother Oncol	A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.	Response to radiotherapy in cancer (late toxicity)	579 European ancestry prostate cancer cases, 1,194 European ancestry breast cancer cases	516 European ancestry prostate cancer cases, 862 prostate cancer cases, 355 breast cancer cases	21q21.1	CNTNAP2	rs2823779-?	0.09	7E-6	(Prostate cancer, urine incontinence, univariable analysis)	0.1	[NR] unit increase	Illumina [2417493] (imputed)	N
721	chr21	17828290	17828291	rs2823819	20732626	Mick E	2010-05-14	J Am Acad Child Adolesc Psychiatry	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	735 trios from 732 families	NA	21q21.1	C21orf34	rs2823819-C	0.18	7E-7		1.65	[NR]	Illumina [835136]	N
722	chr21	18046231	18046232	rs2823962	19451621	Landers JE	2009-05-18	Proc Natl Acad Sci U S A	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	1,821 cases, 2,258 controls	538 cases, 556 controls	21q21.1	NR	rs2823962-?	NR	9E-6	(survival)			Illumina [288357]	N
723	chr21	18206629	18206630	rs2205299	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	21q21.1	NR	rs2205299-T	NR	6E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
733	chr21	19479730	19479731	rs982274	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	21q21.1	CHODL	rs982274-?		6E-6				Illumina [859311]	N
733	chr21	19481353	19481354	rs2055011	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)	294 Japanese ancestry cases, 2,249 Japanese ancestry controls	NA	21q21.1	CHODL	rs2055011-C	0.143	9E-6	(Recessive model)	1.347	[1.075-1.686]	Illumina [733202]	N
734	chr21	19531441	19531442	rs77600076	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	21q21.1	CHODL, TMPRSS15	rs77600076-A	0.971	1E-6		0.124	[0.075-0.173] unit decrease	Illumina [6150213] (imputed)	N
738	chr21	20128908	20128909	rs112643338	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	21q21.1	NR	rs112643338-?	NR	4E-6	(Latino)	1.1442	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
739	chr21	20238854	20238855	rs11700808	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Middle childhood and early adolescence aggressive behavior	16,311 European ancestry individuals	NA	21q21.1	LOC101927797	rs11700808-A	0.5406	1E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
741	chr21	20536648	20536649	rs2825388	18846501	Sonuga-Barke EJ	2008-10-07	Am J Med Genet B Neuropsychiatr Genet	Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.	Attention deficit hyperactivity disorder symptoms (interaction)	909 European ancestry trios	NA	21q21.1	intergenic	rs2825388-A	0.40	8E-6	(int, MC)	1.06	[NR] unit increase	Perlegen [429981]	N
751	chr21	21777729	21777730	rs1888414	19668339	Potkin SG	2009-08-07	PLoS One	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Hippocampal atrophy	162 European ancestry cases, 192 European ancestry controls, 7 African American cases, 14 African American controls, 1 Asian ancestry cases, 3 Asian ancestry controls, 2 cases	NA	21q21.1	FDPSP	rs1888414-?	NR	2E-7				Illumina [516645]	N
751	chr21	21820407	21820408	rs1735884	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q21.1	intergenic	rs1735884-G	0.214	7E-6	(Fat free mass change )	0.04	[NR] kg/y increase	Illumina [899892]	N
751	chr21	21820407	21820408	rs1735884	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q21.1	intergenic	rs1735884-G	0.214	4E-6	(Protein deposition )	0.04	[NR] kcal/d increase	Illumina [899892]	N
751	chr21	21820407	21820408	rs1735884	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q21.1	intergenic	rs1735884-G	0.214	4E-6	(Protein )	0.04	[NR] kg/y increase	Illumina [899892]	N
751	chr21	21885301	21885302	rs2826340	18951430	Anney RJ	2008-10-24	Am J Med Genet B Neuropsychiatr Genet	Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.	Attention deficit hyperactivity disorder and conduct disorder	938 European ancestry trios	NA	21q21.1	intergenic	rs2826340-T	0.17	2E-6				Perlegen [378332]	N
756	chr21	22487853	22487854	rs2826659	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	21q21.1	NR	rs2826659-A	0.75	7E-6		1.35	[1.21-1.49]	Illumina [4058415] (imputed)	N
758	chr21	22689343	22689344	rs11088859	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	21q21.1	NCAM2	rs11088859-?	NR	4E-8	(waist)			Illumina [~ 550000]	N
759	chr21	22910115	22910116	rs2826891	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	21q21.1	NCAM2	rs2826891-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
761	chr21	23141844	23141845	rs2226441	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	21q21.1	intergenic	rs2226441-?	NR	3E-6		2.45	[1.68-3.56]	Illumina [4196861] (imputed)	N
761	chr21	23144601	23144602	rs2827025	26116289	Raginis-Zborowska A	2015-06-24	Exp Gerontol	Genetic determinants of swallowing impairments among community dwelling older population.	Dysphagia	71 European ancestry older adult cases, 484 European ancestry older adult controls	NA	21q21.1	NR	rs2827025-?	NR	2E-6		2.521	[NR]	Illumina [4196861] (imputed)	N
761	chr21	23145949	23145950	rs2014791	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	21q21.1	NCAM2, C21orf74	rs2014791-A	0.379	7E-6		2.15	[1.53-3.03]	Illumina [1556551]	N
765	chr21	23631675	23631676	rs2827312	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (heaviness of drinking)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	21q21.1	intergenic	rs2827312-G	0.32	8E-6		0.089	[NR] unit increase	Illumina [~ 300000]	N
769	chr21	24198814	24198815	rs7279441	20707712	Mosing MA	2010-08-01	Twin Res Hum Genet	A genome-wide association study of self-rated health.	Self-rated health	6,706 European individuals from 2,585 independent families	NA	21q21.2	intergenic	rs7279441-G	0.14	8E-6		0.03	[NR] unit increase	Illumina [2380486] (imputed)	N
774	chr21	24789555	24789557	rs3819055	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA		NCAM2	rs3819055-G	0.27	5E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
776	chr21	25105210	25105211	rs2828478	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	21q21.2	NR	rs2828478-A	NR	4E-7		1.06	[NR]	Illumina [7158791] (imputed)	N
776	chr21	25143118	25143119	rs2828520	20125088	Shi J	2010-02-02	Mol Psychiatry	Genome-wide association study of recurrent early-onset major depressive disorder.	Major depressive disorder	1,020 European ancestry cases, 1,636 European ancestry controls	NA	21q21.2	intergenic	rs2828520-G	0.31	4E-7		1.35		Affymetrix [671424]	N
782	chr21	25913238	25913239	rs721146	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4+ carriers	10,352 cases, 9,207 controls	1,250 European ancestry cases, 536 European ancestry controls	21q21.2	VN2R20P, RPL13AP7	rs721146-A	0.21	4E-6		1.17	[1.09-1.25]	NR [NR]	N
788	chr21	26645082	26645083	rs9977253	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	21q21.2	intergenic	rs9977253-G	0.33	5E-6	(Steatosis)	0.76	[NR] unit increase	Illumina [324623]	N
789	chr21	26826513	26826514	rs8127977	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)	294 Japanese ancestry cases, 2,249 Japanese ancestry controls	NA	21q21.2	NCRNA00158	rs8127977-A	0.722	2E-6	(Dominant model)	1.587	[1.282-1.966]	Illumina [733202]	N
789	chr21	26829776	26829777	rs12483240	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	21q21.2	NR	rs12483240-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
791	chr21	27002376	27002377	rs17001239	19734545	Need AC	2009-09-04	Hum Mol Genet	A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.	Cognitive performance	Up to 1,295 individuals	NA	21q21.3	JAM2	rs17001239-?	0.1166	2E-6	(PRM)			Illumina [475971]	N
791	chr21	27064338	27064339	rs8129913	26268530	Ramanan VK	2015-08-11	Brain	GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.	Longitudinal change in brain amyloid plaque burden	41 European ancestry Alzheimer's disease cases, 294 European ancestry Mild Cognitive Impairment cases, 160 European ancestry cognitively normal individuals	NA	21q21.3	JAM2, APP	rs8129913-?	0.43	3E-6		0.43	[0.25-0.61] unit increase	Illumina [6112217] (imputed)	N
796	chr21	27716653	27716654	rs9975851	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	21q21.3	CYYR1	rs9975851-T	0.57	4E-6	(No asthma)	1.17	[NR]	Affymetrix, Illumina [up to 2500000] (imputed)	N
799	chr21	28146188	28146189	rs2830487	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	21q21.3	intergenic	rs2830487-A		5E-7		0.2494	unit increase	Illumina [5767231] (imputed)	N
799	chr21	28146188	28146189	rs2830487	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	21q21.3	intergenic	rs2830487-A	NR	2E-7		0.2543	unit increase	Illumina [5767231] (imputed)	N
803	chr21	28657948	28657949	rs457603	24124411	Park TJ	2013-09-30	Genomics Inform	Genome-wide association study of liver enzymes in korean children.	Liver enzyme levels (aspartate transaminase)	484 Korean ancestry children	NA	21q21.3	EIF4A1P1	rs457603-G	0.033	5E-6		0.07	[0.041-0.099] unit decrease	Illumina [747076]	N
803	chr21	28665346	28665347	rs2830840	19846067	Garriock HA	2009-10-19	Biol Psychiatry	A genomewide association study of citalopram response in major depressive disorder.	Response to citalopram treatment	Up to 659 European ancestry responders, up to 121 African American responders, up to 103 Hispanic responders, 408 European ancestry non-responders, 120 African American non-responders, 80 Hispanic non-responders	NA	21q21.3	EIF4A1P	rs2830840-?	0.46	5E-6	(remission)	1.47	[1.23-1.72]	Affymetrix [430198]	N
803	chr21	28696475	28696476	rs239713	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal AB1-42 levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	21q21.3	intergenic	rs239713-T	NR	5E-7	(AD)			Illumina [498205]	N
804	chr21	28734996	28734997	rs9977499	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	21q21.3	NCRNA00113, ADAMTS5	rs9977499-?	0.24	4E-6		1.57	[1.29-1.91]	Affymetrix [832357]	N
804	chr21	28744355	28744356	rs1452093	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	21q21.3	NCRNA00113, ADAMTS5	rs1452093-?	0.23	2E-6		1.59	[1.31-1.94]	Affymetrix [832357]	N
805	chr21	28946275	28946276	rs1598848	24483146	Li L	2014-02-01	BMC Genomics	Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.	Response to cytidine analogues (gemcitabine)	60 European ancestry lymphoblastoid cell lines, 54 African American lymphoblastoid cell lines, 60 Han Chinese ancestry lymphoblastoid cell lines	NA	21q21.3	intergenic	rs1598848-?		7E-7				Affymetrix, Illumina [1348798]	N
807	chr21	29182772	29182773	rs614092	26112879	Rudkowska I	2015-06-20	J Nutrigenet Nutrigenomics	Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study.	LDL peak particle diameter (total fat intake interaction)	541 European ancestry individuals	NA	21q21.3	intergenic	rs614092-A	0.597444444444444	2E-6		0.03570385	[0.021-0.05] unit decrease	Illumina [1632371] (imputed)	N
808	chr21	29275626	29275627	rs9305339	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	21q21.3	LINC00314	rs9305339-?		8E-6		0.264	[NR] unit increase	Illumina [5970354] (imputed)	N
809	chr21	29475195	29475196	rs9305354	17903292	Hwang SJ	2007-09-19	BMC Med Genet	A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.	Urinary albumin excretion	822 individuals	NA	21q21.3	intergenic	rs9305354-?	NR	8E-6				Affymetrix [70897]	N
814	chr21	30141020	30141021	rs2832077	17903297	Seshadri S	2007-09-19	BMC Med Genet	Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.	Cognitive test performance	694 European ancestry individuals	NA	21q21.3	intergenic	rs2832077-?	NR	2E-6	(F3)			Affymetrix [70897]	N
817	chr21	30489299	30489300	rs2832191	23259602	Wang X	2012-12-21	BMC Oral Health	Genome-wide association scan of dental caries in the permanent dentition.	Dental caries	1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals	NA	21q21.3	C21orf7	rs2832191-?	NR	5E-6	(Comparatively Younger)			Affymetrix, Illumina [~ 1400000] (imputed)	N
818	chr21	30594531	30594532	rs2832270	24009623	Jiang J	2013-08-30	Front Genet	Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.	Response to mTOR inhibitor (everolimus)	87 European ancestry individuals, 91 African American individuals, 94 Han Chinese ancestry individuals	NA	21q21.3	C21orf7	rs2832270-?	NR	8E-6		0.28	[NR] unit increase	Affymetrix, Illumina [1348798]	N
819	chr21	30713597	30713598	rs17744121	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	21q21.3	BACH1	rs17744121-G	0.07	6E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
819	chr21	30717736	30717737	rs372883	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	21q21.3	BACH1	rs372883-T	NR	2E-13		1.27	[1.19-1.33]	Affymetrix [666141]	N
821	chr21	31013158	31013159	rs363598	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	21q21.3	GRIK1	rs363598-C	NR	5E-6	(5 degree of freedom test)	1.006	[0.98-1.03]	NR [1252901] (imputed)	N
821	chr21	31050816	31050817	rs363512	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Hyperactive-impulsive symptoms	930 European ancestry trios	NA	21q21.3	GRIK1	rs363512-?	NR	4E-6	(binary)			Perlegen [429981]	N
822	chr21	31100796	31100797	rs933117	22446040	Wang KS	2012-03-16	Gene	A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies.	Body mass index	5,218 European ancestry individuals	762 European ancestry individuals	21q21.3	GRIK1	rs933117-A	0.08	6E-6		0.8491	[NR] unit decrease	Illumina [up to 520531]	N
822	chr21	31146168	31146169	rs455804	22807686	Li S	2012-07-12	PLoS Genet	GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.	Hepatocellular carcinoma	1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers	4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers	21q21.3	GRIK1	rs455804-C	0.66	5E-10		1.19	[1.12-1.25]	NR [523663]	N
822	chr21	31177510	31177511	rs458685	17903305	Murabito JM	2007-09-19	BMC Med Genet	A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.	Breast cancer	58 cases, 665 controls	NA	21q21.3	GRIK1	rs458685-?	NR	6E-6				Affymetrix [70897]	N
823	chr21	31244477	31244478	rs457352	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (DPAL)	up to 2,501 European ancestry individuals	NA	21q21.3	GRIK1	rs457352-T	0.13	7E-6	(Age 20-60 years)	0.2401	[0.14-0.34] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
824	chr21	31386242	31386243	rs9305406	20339536	Barber MJ	2010-03-22	PLoS One	Genome-wide association of lipid-lowering response to statins in combined study populations.	Response to statin therapy	3,928 European ancestry individuals	NA	21q21.3	CLDN17, CLDN8, GRIK1	rs9305406-G	0.2	8E-6	(Triglyceride, sum)			Illumina [~ 2500000] (imputed)	N
825	chr21	31519306	31519307	rs7283054	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	21q21.3	CLDN17	rs7283054-C	0.02	1E-6	(cohort study)	2.69	[1.81-4.00]	Affymetrix, Illumina [up to 2600000] (imputed)	N
825	chr21	31519306	31519307	rs7283054	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Stroke	up to 1,592 African American cases, up to 13,154 African American controls	NA	21q21.3	CLDN17	rs7283054-C	0.02	1E-6		0.99	[0.6-1.38] unit increase	Affymetrix, Illumina [up to 2600000] (imputed)	N
829	chr21	32060489	32060490	rs13046373	23726366	Coram MA	2013-05-29	Am J Hum Genet	Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.	HDL cholesterol	7,917 African American individuals, 3,506 Hispanic individuals	7,138 African American individuals	21q22.11	intergenic	rs13046373-C	0.391	4E-6	(AA)	0.0226	[NR] unit decrease	Affymetrix [NR]	N
830	chr21	32216252	32216253	rs7283316	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	21q22.11	KRTARP7-1	rs7283316-A	0.38	9E-6	(digit symbol)	0.37	[0.21-0.53] unit decrease	Illumina [~ 610000]	N
831	chr21	32304265	32304266	rs8134605	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	21q22.11	NR	rs8134605-?	NR	8E-7				Affymetrix [5486770] (imputed)	N
832	chr21	32401129	32401130	rs28456019	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	21q22.11	NR	rs28456019-?	NR	1E-6		0.1685	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
832	chr21	32407115	32407116	rs2833197	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	21q22.11	intergenic	rs2833197-?		9E-6				NR [~ 3000000] (imputed)	N
832	chr21	32440539	32440540	rs1475591	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Hypertension	4,069 African American cases, 3,848 African American controls	1,372 African American cases, 1,482 African American controls	21q22.11	intergenic	rs1475591-T	0.42	6E-6		1.18	[1.10-1.27]	Affymetrix [~ 2740000] (imputed)	N
833	chr21	32506283	32506284	rs61550741	25461247	Lehmann DS	2015-02-01	Pharmacogenet Genomics	Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.	Response to efavirenz-containing treatment in HIV 1 infection (virologic failure)	Up to 737 European ancestry individuals, Up to 545 Black individuals, Up to 314 Hispanic individuals	NA	21q22.11	NR	rs61550741-G	NR	1E-6	(phenotype 2)	2.27	[NR]	Illumina [> 8000000] (imputed)	N
835	chr21	32817506	32817507	rs580140	22044751	Foster MC	2011-11-01	BMC Med Genet	Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.	Renal sinus fat	2,809 European ancestry individuals	NA	21q22.11	TIAM1	rs580140-G	0.28	3E-6		0.184	[0.11-0.26] unit decrease	Affymetrix [~ 2500000] (imputed)	N
835	chr21	32884847	32884848	rs73199525	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	21q22.11	NR	rs73199525-?	NR	7E-6				Affymetrix [5486770] (imputed)	N
836	chr21	32918293	32918294	rs13048019	20801718	Laaksovirta H	2010-08-27	Lancet Neurol	Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.	Amyotrophic lateral sclerosis	405 European ancestry cases, 497 European ancestry controls	NA	21q22.11	SOD1	rs13048019-T	0.17	3E-8		2.02	[1.61-2.53]	Illumina [318167]	N
838	chr21	33214049	33214050	rs77292666	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	21q22.11	NR	rs77292666-?	NR	6E-6				Affymetrix [5486770] (imputed)	N
838	chr21	33285299	33285300	rs2833556	21107309	McClay JL	2010-11-24	Neuropsychopharmacology	Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.	Response to antipsychotic treatment in schizophrenia (reasoning)	738 European ancestry, African American, and other ancestry cases	NA	21q22.11	HUNK	rs2833556-?	0.31	5E-7	(olanzapine)			Affymetrix [492900]	N
839	chr21	33296112	33296113	rs11910494	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	21q22.11	NR	rs11910494-G	0.288747077060134	8E-6	(IGP49)	0.1483	[0.083-0.213] unit increase	Illumina [~ 2500000] (imputed)	N
839	chr21	33381039	33381040	rs2833607	19890347	Birlea SA	2009-11-05	J Invest Dermatol	Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.	Vitiligo	32 Romanian founder cases, 44 European ancestry controls	NA	21q22.11	HUNK	rs2833607-?	0.26	2E-6				Illumina [297342]	N
839	chr21	33385185	33385186	rs2833610	21490949	Sim X	2011-04-07	PLoS Genet	Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.	Type 2 diabetes	2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls	NA	21q22.11	HUNK	rs2833610-A	0.57	4E-6	(Chinese+Malay+Indian)	1.17	[1.09-1.24]	Illumina [~ 2000000] (imputed)	N
840	chr21	33552511	33552512	rs2833693	22832960	Service SK	2012-05-15	Transl Psychiatry	A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.	Temperament	Up to 12,433 European ancestry individuals	NA	21q22.11	C21orf45	rs2833693-T	0.723	4E-6	(Reward dependence)	0.17	unit decrease	Affymetrix, Illumina [1252222] (imputed)	N
843	chr21	33925530	33925531	rs11088226	25317112	Oh S	2014-09-30	Genomics Inform	Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.	Gastritis	977 Korean ancestry female cases, 3,622 Korean ancestry female controls, 804 Korean ancestry male cases, 3,335 Korean ancestry male controls	NA	21q22.11	intergenic	rs11088226-G	NR	4E-6	(Males)	1.3	[NR]	NR [349184]	N
845	chr21	34168572	34168573	rs2154427	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	21q22.11	C21orf49	rs2154427-?	0.013	1E-6		0.099	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
846	chr21	34262686	34262687	rs2833991	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	21q22.11	NR	rs2833991-C	0.0446738709390298	5E-6	(IGP14)	0.3471	[0.2-0.5] unit decrease	Illumina [~ 2500000] (imputed)	N
847	chr21	34369760	34369761	rs117124364	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	21q22.11	OLIG2	rs117124364-C	0.977	9E-6		0.16	[0.089-0.231] unit decrease	Illumina [6150213] (imputed)	N
848	chr21	34542786	34542787	rs6517147	22228203	Aslibekyan S	2012-01-05	Pharmacogenet Genomics	A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.	Inflammatory biomarkers	1,092 European ancestry individuals	NA	21q22.11	intergenic	rs6517147-?	NR	7E-7	(Interleukin-2 soluble receptor-a)			Affymetrix [2543887] (imputed)	N
849	chr21	34689252	34689253	rs2834188	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy	1,189 Chinese ancestry cases, 1,997 Chinese ancestry controls	2,693 European ancestry cases, 11,495 European ancestry controls	21q22.11	IL10RB, INFAR1	rs2834188-?	0.705	2E-8		1.3	[1.18-1.41]	Affymetrix [603382]	N
850	chr21	34734509	34734510	rs9980664	24468470	Zhang C	2013-12-26	Neurobiol Aging	Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.	Cognitive decline (age-related)	5,765 European ancestry individuals, 890 African American individuals	NA	21q22.11	intergenic	rs9980664-?	NR	3E-6	(EA)	0.0272	[0.01569-0.03866] unit increase	Illumina [1530316]	N
850	chr21	34764287	34764288	rs73194058	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	21q22.11	IFNGR2	rs73194058-C	0.87	3E-8	(EA)	1.13	[1.08-1.18]	Affymetrix, Illumina [up to 9739303] (imputed)	N
850	chr21	34764287	34764288	rs73194058	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	21q22.11	IFNGR2	rs73194058-C	0.76	1E-6		1.08	[1.05-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
850	chr21	34776694	34776695	rs2284553	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	21q22.11	NR	rs2284553-G	0.59	5E-9	(EA)	1.061271		Affymetrix, Illumina [~ 9000000] (imputed)	N
850	chr21	34776694	34776695	rs2284553	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	21q22.11	NR	rs2284553-A	0.59	6E-17	(EA)	1.1087041		Affymetrix, Illumina [~ 9000000] (imputed)	N
850	chr21	34776694	34776695	rs2284553	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	21q22.11	IFNGR2, IFNAR1, IFNAR2, IL10RB, GART, TMEM50B	rs2284553-G	0.599	2E-16		1.123	[1.086-1.162]	Affymetrix, Illumina [1230000] (imputed)	N
850	chr21	34781049	34781050	rs2268241	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q22.11	IFNGR2	rs2268241-A	0.201	5E-6	(QUICKl)	0.03	[NR] unit increase	Illumina [899892]	N
850	chr21	34796885	34796886	rs2834215	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	21q22.11	IFNGR2	rs2834215-?	0.58	3E-7		1.22	[1.12-1.32]	Illumina [508934]	N
850	chr21	34837047	34837048	rs57996174	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	21q22.11	IFNAR1	rs57996174-C	0.249	7E-6	Chinese	1.13	[1.07-1.19]	Illumina [up to 4778154] (imputed)	N
850	chr21	34837047	34837048	rs57996174	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	21q22.11	IFNAR1	rs57996174-C	0.104	5E-6		1.12	[1.06-1.17]	Illumina [up to 4778154] (imputed)	N
852	chr21	35016136	35016137	rs1892700	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	21q22.11	CRYZL1, ITSN1, GART, DNAJC28, TMEM50B, IFNGR2	rs1892700-A	0.256	3E-6		0.023	[NR] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
854	chr21	35354522	35354523	rs2032314	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	21q22.11	ATP5O	rs2032314-T	0.08	8E-10	(PCV)	0.154	[0.087-0.221] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
856	chr21	35595636	35595637	rs55706246	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	21q22.11	LINC00310	rs55706246-A	NR	1E-8	(All)	0.28	[-0.0728-0.6328] unit increase	Illumina [6900000] (imputed)	N
856	chr21	35595636	35595637	rs55706246	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	21q22.11	LINC00310	rs55706246-A		5E-6	(All, AA)	0.45	[0.26-0.64] unit increase	Illumina [6900000] (imputed)	N
856	chr21	35595636	35595637	rs55706246	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	21q22.11	LINC00310	rs55706246-A		3E-7	(Cases, AA)			Illumina [6900000] (imputed)	N
856	chr21	35599127	35599128	rs9982601	24262325	Dichgans M	2013-11-21	Stroke	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.	Coronary artery disease	33,398 cases, 75,726 controls	NA	21q22.11	KCNE2	rs9982601-T	NR	3E-10		1.18	[1.12-1.24]	Illumina [575000] (imputed)	N
856	chr21	35599127	35599128	rs9982601	21378990	Schunkert H	2011-03-06	Nat Genet	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Coronary heart disease	22,233 European ancestry cases, 64,762 European ancestry controls	56,682 European ancestry cases and controls	21q22.11	MRPS6	rs9982601-T	0.15	4E-10		1.18	[1.12-1.24]	Affymetrix, Illumina [~ 2300000] (imputed)	N
856	chr21	35599127	35599128	rs9982601	19198609	Kathiresan S	2009-02-08	Nat Genet	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Myocardial infarction (early onset)	2,967 European ancestry cases, 3,075 European ancestry controls	9,746 European ancestry cases, 9,746 European ancestry controls	21q22.11	SLC5A3, KCNE2, MRPS6	rs9982601-T	0.13	6E-11		1.2	[1.14-1.27]	Affymetrix [~ 2500000] (imputed)	N
857	chr21	35652238	35652239	rs9978142	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	21q22.11	KCNE2	rs9978142-T	0.16	3E-8	(FEV1/FVC)	0.043	[0.027-0.059] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
857	chr21	35690785	35690786	rs2834442	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	21q22.11	KCNE2	rs2834442-A	0.65	5E-12		0.026	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
857	chr21	35698389	35698390	rs1013063	23192594	Velez Edwards DR	2012-11-29	Hum Genet	Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.	Body mass index (interaction)	8,203 African American females, 3,484 Hispanic females	NA	21q22.11	KCNE2, LOC100130240	rs1013063-T	0.38	5E-6	(Hispanic, Smoking, years)	0.08	[0.04-0.11] unit decrease	Affymetrix [706791]	N
858	chr21	35821679	35821680	rs1805128	24952745	Arking DE	2014-06-22	Nat Genet	Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.	QT interval	Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals	Up to 33,316 European ancestry individuals	21q22.12	KCNE1	rs1805128-T	0.01	2E-18		7.42	[5.75-9.09] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
858	chr21	35880071	35880072	rs727957	20062063	Holm H	2010-01-10	Nat Genet	Several common variants modulate heart rate, PR interval and QRS duration.	Electrocardiographic traits	Up to 12,670 European ancestry individuals	Up to 10,352 European ancestry individuals	21q22.12	KCNE1	rs727957-T	0.19	2E-12	(QT interval)	11.7	[8.46-14.94] % s.d. increase	Illumina [306060]	N
859	chr21	36014907	36014908	rs9305556	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	21q22.12	CLIC6	rs9305556-A	0.42012	1E-6		1.1	[1.06-1.14]	Illumina [up to 4778154] (imputed)	N
860	chr21	36125817	36125818	rs2834629	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis in non-asthmatics	249 European ancestry cases, 164 Latino cases, 248 African American/Afro-Caribbean cases, 674 European ancestry controls, 588 Latino controls, 464 African American/Afro-Caribbean controls	NA	21q22.12	NR	rs2834629-?	0.12	5E-7	(AA)	5.88	[1.16-]	Affymetrix, Illumina [NR] (imputed)	N
861	chr21	36208061	36208062	rs9976946	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	21q22.12	RUNX1	rs9976946-?	NR	5E-6	(EA)	5.5	[2.65-11.39]	Illumina [2485249] (imputed)	N
861	chr21	36238506	36238507	rs2834655	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	21q22.12	RUNX1	rs2834655-?		5E-7	(AA)			Illumina [NR]	N
862	chr21	36313783	36313784	rs75030518	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	21q22.12	NR	rs75030518-?	NR	2E-7	(Latino)	1.4514	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
862	chr21	36357860	36357861	rs2014300	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	21q22.12	RUNX1	rs2014300-G	0.843	8E-9		1.28	[1.18-1.39]	Affymetrix, Illumina [7556215] (imputed)	N
862	chr21	36357860	36357861	rs2014300	21642993	Wu C	2011-06-05	Nat Genet	Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.	Esophageal cancer	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls	21q22.12	RUNX1	rs2014300-G	0.83	8E-22		1.43	[1.33-1.54]	Affymetrix [666141]	N
862	chr21	36416331	36416332	rs9983044	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	21q22.12	RUNX1	rs9983044-C	NR	2E-7	(EPA)	0.07	[NR] % increase	Affymetrix, Illumina [NR]	N
863	chr21	36470864	36470865	rs8128234	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	21q22.12	RUNX1	rs8128234-T	0.197	6E-8		1.13	[1.08-1.18]	Illumina [up to 4778154] (imputed)	N
863	chr21	36470864	36470865	rs8128234	25903422	Yin X	2015-04-23	Nat Commun	Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.	Psoriasis	3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls	5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls	21q22.12	RUNX1	rs8128234-T	0.197	4E-8	EA	1.17	[1.11-1.23]	Illumina [up to 4778154] (imputed)	N
863	chr21	36533661	36533662	rs2834812	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	21q22.12	NR	rs2834812-?	NR	9E-6	(progression)			Illumina [NR]	N
864	chr21	36688527	36688528	rs2834902	22969067	Mishra A	2012-09-13	Invest Ophthalmol Vis Sci	Genetic variants near PDGFRA are associated with corneal curvature in Australians.	Corneal curvature	1,788 European ancestry twins and family members, 1,013 European ancestry unrelated individuals	NA	21q22.12	intergenic	rs2834902-A	NR	8E-6		0.0359	[0.020-0.052] mm increase	Illumina [1704858] (imputed)	N
865	chr21	36738241	36738242	rs8133843	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	21q22.12	RUNX1, LOC100506403	rs8133843-A	0.62	2E-8	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [up to 9739303] (imputed)	N
865	chr21	36738241	36738242	rs8133843	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	21q22.12	RUNX1, LOC100506403	rs8133843-A	0.59	3E-9		1.08	[1.05-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
866	chr21	36849418	36849419	rs16993221	22788528	Kong M	2012-07-13	Int J Immunogenet	Genetic associations with C-reactive protein level and white blood cell count in the KARE study.	C-reactive protein and white blood cell count	8,722 individuals	NA	21q22.12	LOC100506403	rs16993221-A	0.034	2E-8	(WBC)	0.455	[NR] 10^3/ul decrease	Affymetrix [1701735] (imputed)	N
867	chr21	37013620	37013621	rs12483148	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q22.12	SETD4	rs12483148-G	0.038	5E-6	(DBP )	0.03	[NR] mmHg increase	Illumina [899892]	N
870	chr21	37460270	37460271	rs62229266	26301497	Dina C	2015-08-24	Nat Genet	Genetic association analyses highlight biological pathways underlying mitral valve prolapse.	Mitral valve prolapse	1,442 European ancestry cases, 2,439 European ancestry controls	1,422 European ancestry cases, 6,779 European ancestry controls	21q22.12	SETD4, CBR1	rs62229266-T	0.36	1E-8		1.22	[1.14-1.30]	Affymetrix, Illumina [~ 4800000] (imputed)	N
870	chr21	37481476	37481477	rs6517329	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	21q22.12	NR	rs6517329-A	NR	8E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
870	chr21	37485061	37485062	rs4817775	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	21q22.12	CBR3	rs4817775-A	0.59	9E-7	(LSBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
872	chr21	37623446	37623447	rs2298450	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	21q22.12	NR	rs2298450-C	NR	5E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
873	chr21	37801433	37801434	rs2835345	23932459	Yao TC	2013-08-06	J Allergy Clin Immunol	Genome-wide association study of lung function phenotypes in a founder population.	Pulmonary function	1,144 Hutterite individuals	NA	21q22.13	CHAF1B	rs2835345-?	NR	8E-6	(FEV1/FVC)			Affymetrix [246010]	N
873	chr21	37809376	37809377	rs9984974	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		21q22.13	intergenic	rs9984974-?	0.140	2E-6			[NR]	Affymetrix, Illumina [152234]	N
873	chr21	37833306	37833307	rs219780	19561606	Thorleifsson G	2009-06-28	Nat Genet	Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.	Kidney stones	1,507 European ancestry cases, 34,033 European ancestry controls	2,266 European ancestry cases, 8,477 European ancestry controls	21q22.13	CLDN14	rs219780-C	0.79	4E-12		1.25	[1.17-1.33]	Illumina [303120]	N
873	chr21	37835238	37835240	rs199565725	26272126	Oddsson A	2015-08-14	Nat Commun	Common and rare variants associated with kidney stones and biochemical traits.	Kidney stones	5,149 European ancestry cases, 279,870 European ancestry controls (includes non-array genotyped, whole-genome imputed individuals)	NA	21q22.13	CLDN14	rs199565725-AAC	0.7632	5E-13		1.2345679	[NR]	Illumina [28300000] (imputed)	N
873	chr21	37848333	37848334	rs170183	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	21q22.13	CLDN14	rs170183-G	0.53	6E-8	(FNK, female)	1.7	[NR] unit increase	Affymetrix, Illumina [5842825] (imputed)	N
873	chr21	37848333	37848334	rs170183	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	21q22.13	CLDN14	rs170183-G	0.53	4E-9	(hip, female)	1.92	[NR] unit increase	Affymetrix, Illumina [5842825] (imputed)	N
873	chr21	37848333	37848334	rs170183	24249740	Zhang L	2013-11-17	Hum Mol Genet	Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.	Bone mineral density	5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females	7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males	21q22.13	CLDN14	rs170183-G	0.53	2E-7	(hip, female, EA)			Affymetrix, Illumina [5842825] (imputed)	N
874	chr21	37935668	37935669	rs9984896	23166209	Smith JG	2012-11-19	Circ Cardiovasc Genet	Impact of ancestry and common genetic variants on QT interval in African Americans.	QT interval	13,105 African American individuals	NA	21q22.13	NR	rs9984896-A	0.85	5E-6		2.85	[1.63-4.07] unit decrease	Affymetrix, Illumina [2800000] (imputed)	N
874	chr21	38007942	38007943	rs6517368	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	21q22.13	SIM2	rs6517368-C		2E-6		1.1201	[1.07-1.17]	Illumina [up to 4972397] (imputed)	N
878	chr21	38491094	38491095	rs1003719	20463881	Liu F	2010-05-16	PLoS Genet	Digital quantification of human eye color highlights genetic association of three new loci.	Eye color traits	5,951 European ancestry individuals	3,543 European ancestry individuals	21q22.13	TTC3, DSCR9	rs1003719-A	NR	2E-10	(CHS1)	0.1	[NR] % decrease	Illumina [2543887] (imputed)	N
880	chr21	38671417	38671418	rs16994935	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	21q22.13	NR	rs16994935-?	NR	2E-6	(Latino)	0.6174	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
880	chr21	38740823	38740824	rs12483205	21364930	Bol SM	2011-02-25	PLoS One	Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages.	HIV-1 replication	191 European ancestry individuals	31 individuals	21q22.13	DYRK1A	rs12483205-?	NR	5E-6				Illumina [494656]	N
881	chr21	38817811	38817812	rs11700462	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	21q22.13	NR	rs11700462-G	0.89698245367811	5E-6	(IGP33)	0.2827	[0.16-0.4] unit decrease	Illumina [~ 2500000] (imputed)	N
882	chr21	38932777	38932778	rs2835810	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	21q22.13	DYRK1A	rs2835810-?	0.37	6E-6	(WHR)			Illumina [308011]	N
882	chr21	39027271	39027272	rs2835872	22554406	Kang SJ	2012-05-03	Genes Brain Behav	Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6.	Electroencephalographic traits in alcoholism	1,560 European ancestry individuals from 117 families	NA	21q22.13	KCNJ6	rs2835872-G	0.681	5E-10		0.145	[NR] unit decrease	Illumina [634583]	N
888	chr21	39721763	39721764	rs2836326	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA)	up to 398 European ancestry individuals	NA	21q22.2	ERG	rs2836326-G	NR	3E-6		0.2311	unit decrease	Illumina [5767231] (imputed)	N
889	chr21	39852550	39852551	rs7275212	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	21q22.2	ERG	rs7275212-T	0.08	2E-18	(basophil count)	0.197	[0.16-0.24] unit increase	Illumina [2178645] (imputed)	N
889	chr21	39865854	39865855	rs9982370	25383866	Kirkpatrick RM	2014-11-10	PLoS One	Results of a "GWAS Plus:" General Cognitive Ability Is Substantially Heritable and Massively Polygenic.	General cognitive ability	7,100 European ancestry individuals	NA	21q22.2	ERG	rs9982370-?	NR	1E-6				Illumina [2546647] (imputed)	N
890	chr21	40056422	40056423	rs743446	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	21q22.2	NCRNA00114, ERG	rs743446-?	0.49	5E-6		2.4	[1.64-3.49]	Illumina [346110]	N
891	chr21	40173527	40173528	rs1209950	21079520	Sato Y	2010-11-12	J Thorac Oncol	Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel.	Non-small cell lung cancer (survival)	105 East Asian ancestry cases	NA	21q22.2	ETS2	rs1209950-T	NR	3E-7		4.96	[2.52-9.76] (CT)	Illumina [109365]	N
892	chr21	40283732	40283733	rs9979250	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (Mean PAL)	up to 4,032 European ancestry individuals	NA	21q22.2	ETS2	rs9979250-T	0.04	4E-7	(Age 20-60 years)	0.1497	[0.092-0.208] unit increase	Affymetrix, Illumina [up to 17585496] (imputed)	N
892	chr21	40290958	40290959	rs2836751	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Inflammatory skin disease	2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls	NA	21q22.2	AF064858.6	rs2836751-?	NR	6E-6	(Psoriasis)			Affymetrix, Illumina [~ 5200000]	N
892	chr21	40291739	40291740	rs2836754	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	21q22.2	ETS2	rs2836754-C	0.614	7E-6	(EA, women)	0.019	[0.01-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
892	chr21	40291739	40291740	rs2836754	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	21q22.2	ETS2	rs2836754-C	0.612	4E-7	(EA)	0.016	[0.01-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
892	chr21	40291739	40291740	rs2836754	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	21q22.2	ETS2	rs2836754-C	0.599	2E-8		0.017	[0.011-0.023] kg/m2 increase	Affymetrix, Illumina [2550021]	N
892	chr21	40291739	40291740	rs2836754	17554261	Parkes M	2007-06-06	Nat Genet	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.	Crohn's disease	1,748 cases, 2,938 controls	1,182 European ancestry cases, 2,024 European ancestry controls	21q22.2	intergenic	rs2836754-?	0.35	5E-7		1.15	[1.03-1.28]	Affymetrix [see WTCCC]	N
892	chr21	40314703	40314704	rs2836770	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	21q22.2	FLJ45139	rs2836770-?		3E-6	(EA)			Illumina [NR]	N
893	chr21	40380248	40380249	rs2836823	17158188	Bierut LJ	2006-12-07	Hum Mol Genet	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Nicotine dependence	482 European ancestry cases, 466 European ancestry controls	568 European ancestry cases, 413 European ancestry controls	21q22.2	NR	rs2836823-T	0.40	2E-6		1.46	[1.23-1.73]	Perlegen [2400000]	N
893	chr21	40465177	40465178	rs2242944	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	21q22.2	PSMG1	rs2242944-?	0.63	8E-20		1.39	[1.28-1.49]	Illumina [288662]	N
893	chr21	40465511	40465512	rs4817986	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	21q22.2	PSMG1	rs4817986-T	0.28	2E-11	(EA)	0.008	[0.006-0.01] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
893	chr21	40466743	40466744	rs2836883	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	21q22.2	NR	rs2836883-?	NR	3E-48	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
893	chr21	40469519	40469520	rs378108	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	21q22.2	intergenic	rs378108-G	0.48	2E-11				Illumina [2223620] (imputed)	N
894	chr21	40569778	40569779	rs2150410	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	21q22.2	BRWD1	rs2150410-?	NR	4E-6	(Hyperthymic)	1.69	[NR] unit decrease	Affymetrix [703012]	N
894	chr21	40604428	40604429	rs2836950	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	21q22.2	BRWD1	rs2836950-C	0.64	6E-11		0.03	[0.02-0.04] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
895	chr21	40663180	40663181	rs2836974	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	21q22.2	BRWD1	rs2836974-?	NR	9E-7		0.0281	[0.017-0.039] unit increase	Affymetrix, Illumina [2478500] (imputed)	N
897	chr21	41020544	41020545	rs79978308	26365420	Mbarek H	2015-09-14	Am J Med Genet B Neuropsychiatr Genet	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Alcohol dependence	1,374 European ancestry cases and 6,468 European ancestry controls from 7,694 twin pairs	NA	21q22.2	B3GALT5	rs79978308-T	0.03	5E-6		1.7857143	[1.55-2.02]	Affymetrix, Illumina, Perlegen [6464174] (imputed)	N
897	chr21	41021751	41021752	rs10854398	21041247	Perlis RH	2010-11-01	Am J Psychiatry	Genome-wide association study of suicide attempts in mood disorder patients.	Suicide risk	3,117 European ancestry Bipolar disorder cases, 1,273 European ancestry Major depressive disorder cases	2,698 European ancestry Bipolar disorder cases, 1,649 Major depressive disorder cases	21q22.2	IGSF5, B3GALT5	rs10854398-C	NR	6E-6		1.178		Affymetrix [1922309] (imputed)	N
898	chr21	41123300	41123301	rs1735151	21347282	Lettre G	2011-02-10	PLoS Genet	Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.	Hypertension	4,069 African American cases, 3,848 African American controls	1,372 African American cases, 1,482 African American controls	21q22.2	IGSF5	rs1735151-T	0.58	9E-6		1.16	[1.09-1.24]	Affymetrix [~ 2740000] (imputed)	N
899	chr21	41180075	41180076	rs2410182	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	21q22.2	IGSF5	rs2410182-A	0.4	7E-7	(Oz alcohol/week)	0.452	[0.27-0.63] unit decrease	Affymetrix [2500000] (imputed)	N
899	chr21	41221255	41221256	rs2837253	24376456	Simino J	2013-12-12	Front Genet	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Systolic blood pressure (alcohol consumption interaction)	up to 6,882 European ancestry individuals	NA	21q22.2	IGSF5, PCP4	rs2837253-A	0.3	8E-7	(drinks/week)	0.182	[0.11-0.25] unit increase	Affymetrix [2500000] (imputed)	N
900	chr21	41344910	41344911	rs1734920	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	21q22.2	NR	rs1734920-?		3E-6	(females)			Illumina [1211988] (imputed)	N
900	chr21	41415043	41415044	rs9981861	21079520	Sato Y	2010-11-12	J Thorac Oncol	Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel.	Non-small cell lung cancer (survival)	105 East Asian ancestry cases	NA	21q22.2	DSCAM	rs9981861-G	NR	4E-6		1.33	[0.82-2.15] (AG)	Illumina [109365]	N
903	chr21	41702946	41702947	rs727333	23518928	Liu M	2013-03-21	Mol Endocrinol	TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.	Estradiol plasma levels (breast cancer)	700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases	NA	21q22.2	NR	rs727333-?	0.081	1E-6		1.542	[1.295-1.837] unit increase	Illumina [563945]	N
904	chr21	41886582	41886583	rs9980603	24047446	Schosser A	2013-09-19	World J Biol Psychiatry	Genome-wide association study of co-occurring anxiety in major depression.	Anxiety in major depressive disorder	1,080 European ancestry cases, 442 European ancestry controls	NA	21q22.2	DSCAM	rs9980603-?	0.58	3E-7	(Dichotomous)	1.53	[NR]	Illumina [471581]	N
905	chr21	41993706	41993707	rs3804024	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q22.2	DSCAM	rs3804024-G	0.035	9E-7	(Arm span )	0.03	[NR] cm increase	Illumina [899892]	N
905	chr21	41993706	41993707	rs3804024	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q22.2	DSCAM	rs3804024-G	0.035	3E-6	(Height z-score )	0.03	[NR] SD increase	Illumina [899892]	N
906	chr21	42174959	42174960	rs2837828	21507922	Ramsuran V	2011-05-01	Clin Infect Dis	Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.	Neutrophil count	115 African ancestry HIV-negative individuals	NA	21q22.2	DSCAM	rs2837828-?	NR	1E-6				Illumina [874956]	N
906	chr21	42202430	42202431	rs4818184	25226531	St Pourcain B	2014-09-16	Nat Commun	Common variation near ROBO2 is associated with expressive vocabulary in infancy.	Expressive vocabulary in infants	6,851 European ancestry 15-18-month-old children, 6,299 European ancestry 24-30-month-old children	2,038 European ancestry 15-18-month-old children, 4,520 European ancestry 24-30-month-old children	21q22.2	NR	rs4818184-A	0.13	7E-6	(15-18 months)	0.1	[0.057-0.143] unit decrease	Illumina [2449665] (imputed)	N
907	chr21	42216954	42216955	rs2837857	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	21q22.2	DSCAM	rs2837857-T	0.7	2E-6		3.3333	[NR]	Affymetrix [up to 4467279] (imputed)	N
909	chr21	42471627	42471628	rs16998084	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (immigration/crime)	9,617 European ancestry individuals	NA	21q22.2	intergenic	rs16998084-G	NR	5E-6		0.4	[0.23-0.57] unit decrease	Illumina [628922]	N
909	chr21	42511917	42511918	rs2837960	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	21q22.2	NR	rs2837960-G	0.17	2E-6		1.05	[0.93-1.20]	Affymetrix [469557]	N
909	chr21	42583737	42583738	rs6517656	23903356	Hayes MG	2013-07-31	Diabetes	Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.	Glycemic traits (pregnancy)	1,367 European ancestry individuals, 817 Hispanic individuals, 1,075 Afro-Caribbean individuals, 1,178 Thai ancestry individuals	2,798 European ancestry individuals, 228 French Canadian founder population individuals	21q22.3	BACE2, PLAC4, C21orf130, FAM3B	rs6517656-G	0.839	6E-16	(FCP)	0.0402	[NR] unit increase	Illumina [up to 945994] (imputed)	N
910	chr21	42619748	42619749	rs914187	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	21q22.3	BACE2	rs914187-C	0.595	6E-6		0.014	[0.0076-0.0194] kg/m2 increase	Affymetrix, Illumina [2550021]	N
910	chr21	42629894	42629895	rs4818225	25201988	Rietveld CA	2014-09-08	Proc Natl Acad Sci U S A	Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.	Educational attainment	106,736 European ancestry individuals	NA	21q22.3	intergenic	rs4818225-A	0.338	6E-6		0.021	[NR] unit increase	Affymetrix, Illumina [NR] (imputed)	N
910	chr21	42698906	42698907	rs441810	24941225	Liang Y	2014-06-18	PLoS One	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.	Elevated serum carcinoembryonic antigen levels	1,999 Chinese ancestry individuals	NA	21q22.3	FAM3B	rs441810-?		2E-8				Illumina [709211] (imputed)	N
910	chr21	42698906	42698907	rs441810	23300138	He M	2013-01-07	Gut	A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk.	Tumor biomarkers	3,451 Han Chinese ancestry individuals	10,326 Chinese ancestry individuals	21q22.3	FAM3B	rs441810-G	0.24	3E-22	(CEA)	0.069	[0.040-0.098] ng/ml increase	Affymetrix, Illumina [NR] (imputed)	N
911	chr21	42740487	42740488	rs78736162	25663231	Beecham GW	2015-02-06	Neurology	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Parkinson disease and lewy body pathology	484 European ancestry cases, 1,145 European ancestry controls	NA	21q22.3	MX2	rs78736162-?	0.042	3E-7		2.79	[NR]	Illumina [3922209] (imputed)	N
911	chr21	42746080	42746081	rs45430	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	21q22.3	MX2	rs45430-?	0.61	3E-9		1.14	[1.09-1.18]	Illumina [594997]	N
911	chr21	42793790	42793791	rs459482	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	21q22.3	NR	rs459482-C	0.594937723887375	2E-6	(IGP1)	0.1509	[0.089-0.213] unit decrease	Illumina [~ 2500000] (imputed)	N
911	chr21	42793790	42793791	rs459482	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	21q22.3	NR	rs459482-C	0.594327337431694	3E-7	(IGP41)	0.1627	[0.1-0.22] unit decrease	Illumina [~ 2500000] (imputed)	N
911	chr21	42846534	42846535	rs183026840	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	21q22.3	NR	rs183026840-?	NR	9E-6	(Native Hawaiian)	0.8436	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
912	chr21	42901420	42901421	rs1041449	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	21q22.3	TMPRSS2	rs1041449-G	0.44	3E-8		1.06	[1.04-1.08]	Affymetrix, Illumina [up to 16852405] (imputed)	N
912	chr21	42901420	42901421	rs1041449	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	21q22.3	TMPRSS2	rs1041449-G	0.44	3E-7	(EA)	1.06	[1.04-1.09]	Affymetrix, Illumina [up to 16852405] (imputed)	N
913	chr21	43036968	43036969	rs9977018	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	21q22.3	TMPRSS2	rs9977018-?	0.05	2E-9				Illumina [859311]	N
913	chr21	43092200	43092201	rs2838088	24025145	Chung S	2013-09-11	Breast Cancer Res	A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.	Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)	57 Japanese ancestry cases, 63 Japanese ancestry controls	NA	21q22.3	NCRNA00111	rs2838088-A	0.12	1E-6	(Dominant)	4.48	[2.32-8.66]	Illumina [555600]	N
914	chr21	43227914	43227915	rs7279297	19340012	Nan H	2009-04-02	J Invest Dermatol	Genome-wide association study of tanning phenotype in a population of European ancestry.	Tanning	2,287 European ancestry female individuals	870 European ancestry female individuals	21q22.3	PRDM15	rs7279297-G	NR	3E-6		0.12	[0.06-0.18] tanning ability score decrease	Illumina [528173]	N
915	chr21	43275494	43275495	rs915832	23006423	Niu N	2012-09-24	BMC Cancer	Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.	Response to taxane treatment (placlitaxel)	96 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines	NA	21q22.3	PRDM15	rs915832-?	NR	7E-6				Affymetrix, Illumina [~ 1300000]	N
915	chr21	43286351	43286352	rs2839398	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	21q22.3	PRDM15	rs2839398-?	NR	5E-6		1.23	[NR]	Illumina [2500000] (imputed)	N
915	chr21	43343509	43343510	rs451390	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	21q22.3	C2CD2	rs451390-G	0.85	2E-7		4.5455	[NR]	Affymetrix [up to 4467279] (imputed)	N
916	chr21	43421113	43421114	rs8133949	25637336	Chan JP	2015-02-01	Age (Dordr)	Genetics of hand grip strength in mid to late life.	Hand grip strength	2,088 European ancestry individuals	541 European ancestry individuals	21q22.3	ZNF295	rs8133949-T	NR	6E-7	(Model 1 - age,sex)	1.142	[0.71-1.58] unit decrease	Affymetrix [at least 549281] (imputed)	N
916	chr21	43443497	43443498	rs2839440	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	21q22.3	C21orf121	rs2839440-?	NR	1E-6	(Afro-Caribbean)	5.31	[2.70-10.42]	Illumina [2485249] (imputed)	N
916	chr21	43482045	43482046	rs220262	25839716	Ng E	2015-04-02	Environ Res	Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.	Polychlorinated biphenyl levels	922 European ancestry individuals	NA	21q22.3	NR	rs220262-?		6E-7	(PCB157)	0.22	[0.14-0.3] unit decrease	Illumina [8736858] (imputed)	N
916	chr21	43502761	43502762	rs220299	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q22.3	UMODL1	rs220299-G	0.373	4E-7	(HRmax )	0.05	[NR] bpm increase	Illumina [899892]	N
916	chr21	43513479	43513480	rs1475911	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	21q22.3	NR	rs1475911-C	0.154651563028953	9E-6	(IGP63)	0.2012	[0.11-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
918	chr21	43650775	43650776	rs4148112	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	21q22.3	ABCG1	rs4148112-?	NR	5E-7				Illumina [859311]	N
918	chr21	43707100	43707101	rs425215	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	21q22.3	NR	rs425215-?	NR	8E-7	(optimism)			Illumina [535076]	N
919	chr21	43778894	43778895	rs1547374	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	21q22.3	TFF1	rs1547374-A	NR	4E-13		1.27	[1.19-1.35]	Affymetrix [666141]	N
919	chr21	43836185	43836186	rs11203203	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	21q22.3	UBASH3A	rs11203203-A	NR	1E-8				Illumina [472854]	N
919	chr21	43836185	43836186	rs11203203	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	21q22.3	UBASH3A	rs11203203-A	0.37	4E-6		1.11	[NR]	Affymetrix, Illumina [~ 2716259] (imputed)	N
919	chr21	43836185	43836186	rs11203203	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	21q22.3	UBASH3A	rs11203203-A	0.373	1E-9		1.27	[1.18-1.38]	Illumina [520460]	N
919	chr21	43836185	43836186	rs11203203	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	21q22.3	UBASH3A	rs11203203-?	NR	2E-9				Affymetrix, Illumina [841622] (imputed)	N
919	chr21	43836389	43836390	rs9976767	18840781	Grant SF	2008-10-07	Diabetes	Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.	Type 1 diabetes	563 European ancestry cases, 1,146 European ancestry controls, 483 European ancestry trios	3,303 European ancestry cases, 4,673 European ancestry controls	21q22.3	UBASH3A	rs9976767-C	NR	2E-8		1.16	[1.10-1.22]	Illumina [up to 1000000]	N
919	chr21	43841327	43841328	rs3788013	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	21q22.3	UBASH3A	rs3788013-A	NR	1E-7	(T1D)	1.1	[NR]	Affymetrix, Illumina [NR]	N
919	chr21	43855066	43855067	rs1893592	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	21q22.3	UBASH3A	rs1893592-A	0.73	7E-12		1.11	[1.08-1.14]	Affymetrix, Illumina [up to 9739303] (imputed)	N
921	chr21	44156768	44156769	rs9979235	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	21q22.3	intergenic	rs9979235-?	NR	6E-6	(FEV1/FVC decline in asthmatics)	0.6177	[0.35-0.88] unit decrease	Illumina [~ 2500000] (imputed)	N
924	chr21	44436176	44436177	rs2839619	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	21q22.3	PKNOX1	rs2839619-G	0.40	8E-6	(total cholesterol)	0.13	[0.07-0.19] mmol/L increase	Illumina [316730]	N
924	chr21	44436176	44436177	rs2839619	19260141	Zemunik T	2009-02-01	Croat Med J	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	Biochemical measures	898 Korculan individuals	NA	21q22.3	PKNOX1	rs2839619-G	0.40	8E-6	(LDL cholesterol)	0.13	[0.08-0.18] mmol/L increase	Illumina [316730]	N
924	chr21	44445291	44445292	rs234720	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	21q22.3	PKNOX1	rs234720-?	NR	2E-7	(Digit Span Forward)			Illumina [up to 563855]	N
924	chr21	44448717	44448718	rs2839627	21130836	Luciano M	2010-12-03	Biol Psychol	Whole genome association scan for genetic polymorphisms influencing information processing speed.	Information processing speed	Up to 4,039 European ancestry individuals	NA	21q22.3	PKNOX1	rs2839627-T	0.11	6E-6	(speed factor)	0.27	[0.15-0.39] unit increase	Illumina [~ 610000]	N
924	chr21	44478496	44478497	rs6586282	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	21q22.3	CBS, PKNOX1, U2AF1, STAG3OS	rs6586282-T	0.17	4E-9				Affymetrix, Illumina [2379663] (imputed)	N
924	chr21	44478496	44478497	rs6586282	23720494	Evans DM	2013-05-29	Hum Mol Genet	Genome-wide association study identifies loci affecting blood copper, selenium and zinc.	Blood trace element (Se levels)	5477 European ancestry individuals	NA	21q22.3	CBS	rs6586282-?	NR	5E-6		0.117	[0.068-0.166] unit increase	Illumina [> 2500000] (imputed)	N
924	chr21	44478496	44478497	rs6586282	20031578	Pare G	2009-04-01	Circ Cardiovasc Genet	Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.	Homocysteine levels	13,974 European ancestry females	840 European ancestry females	21q22.3	CBS	rs6586282-?	0.18	3E-10	(WGHS)	0.03	[NR] unit decrease	Illumina [336469]	N
924	chr21	44482935	44482936	rs1789953	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	21q22.3	PKNOX1, U2AF1, CBS, WDR4	rs1789953-T	0.14	3E-8				Affymetrix, Illumina [2379663] (imputed)	N
924	chr21	44486963	44486964	rs234709	25343990	Cornelis MC	2014-10-24	Hum Mol Genet	Genome-wide association study of selenium concentrations.	Blood and toenail selenium levels	9,639 European ancestry individuals	NA	21q22.3	PKNOX1, U2AF1, CBS	rs234709-T	0.45	5E-9				Affymetrix, Illumina [2379663] (imputed)	N
924	chr21	44486963	44486964	rs234709	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	21q22.3	CBS	rs234709-T	0.45	4E-24		0.0718	[0.058-0.086] unit decrease	Affymetrix, Illumina [2090256] (imputed)	N
924	chr21	44487403	44487404	rs2851391	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	21q22.3	CBS	rs2851391-T	0.46	1E-11	(betaine)	0.012	[0.0081-0.0159] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
924	chr21	44487403	44487404	rs2851391	23824729	van Meurs JB	2013-07-03	Am J Clin Nutr	Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.	Homocysteine levels	44,147 European ancestry individuals	NA	21q22.3	CBS	rs2851391-T	0.47	2E-12		0.056	[0.04-0.072] unit increase	Affymetrix, Illumina [2090256] (imputed)	N
924	chr21	44487403	44487404	rs2851391	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	21q22.3	CBS	rs2851391-G	0.365	4E-6	(Hcy )	0.02	[NR] umol/L increase	Illumina [899892]	N
924	chr21	44488032	44488033	rs234714	24651765	Williams SR	2014-03-20	PLoS Genet	Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.	Plasma homocysteine levels (post-methionine load test)	2,710 European and other ancestry individuals, 1,725 European ancestry individuals, 258 African ancestry individuals, 117 individuals	NA	21q22.3	CBS	rs234714-T	0.20	3E-26		0.404	[0.31-0.49] unit increase	Affymetrix, Illumina [up to 11000000] (imputed)	N
925	chr21	44593139	44593140	rs11911275	24951543	Liao J	2014-06-20	Hum Mol Genet	Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.	Age-related nuclear cataracts	2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals	NA	21q22.3	CRYAA	rs11911275-G	0.44	2E-9	(Random effect)	0.08	[0.021-0.139] unit increase	Illumina [4736131] (imputed)	N
925	chr21	44615871	44615872	rs67900830	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	21q22.3	intergenic	rs67900830-A	NR	4E-6		1.4705882	[NR]	Illumina [up to 9792010] (imputed)	N
926	chr21	44768561	44768562	rs643608	20708005	Chalasani N	2010-08-10	Gastroenterology	Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.	Non-alcoholic fatty liver disease histology (other)	236 European ancestry cases	NA	21q22.3	intergenic	rs643608-G	0.38	1E-6	(Steatosis)	0.74	[NR] unit increase	Illumina [324623]	N
926	chr21	44779679	44779680	rs496300	20694148	Zabaneh D	2010-08-04	PLoS One	A genome-wide association study of the metabolic syndrome in Indian Asian men.	Metabolic syndrome	2,554 Indian Asian ancestry individuals	2,240 Indian Asian ancestry individuals	21q22.3	FLJ41733	rs496300-G	0.16	4E-7	(HDL)	0.03	[0.02-0.05] mmol/l increase	Illumina [308011]	N
928	chr21	45078555	45078556	rs17004598	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	21q22.3	HSF2BP	rs17004598-C	0.01	1E-7		2.57	[NR]	Illumina [1468075]	N
931	chr21	45404337	45404338	rs7435	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	21q22.3	AGPAT3	rs7435-A	NR	2E-7	(DPA)	0.02	[NR] % decrease	Affymetrix, Illumina [NR]	N
933	chr21	45614859	45614860	rs8127691	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	21q22.3	NR	rs8127691-?	NR	9E-30	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
933	chr21	45615022	45615023	rs2838519	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	21q22.3	ICOSLG	rs2838519-G	0.39	6E-11		1.14	[1.05-1.22]	Affymetrix, Illumina [~ 1100000] (imputed)	N
933	chr21	45615022	45615023	rs2838519	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	21q22.3	ICOSLG	rs2838519-G	0.391	2E-14		1.18	[1.13-1.23]	Affymetrix, Illumina [953241] (imputed)	N
933	chr21	45615560	45615561	rs762421	18587394	Barrett JC	2008-06-29	Nat Genet	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Crohn's disease	3,230 European ancestry cases, 4,829 European ancestry controls	1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls	21q22.3	ICOSLG	rs762421-G	0.39	1E-9		1.13	[NR]	Affymetrix, Illumina [635547] (imputed)	N
933	chr21	45615740	45615741	rs7282490	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	21q22.3	NR	rs7282490-G	0.3934	2E-15	(EA)	1.1100584	[1.09-1.13]	Affymetrix, Illumina [~ 9000000] (imputed)	N
933	chr21	45615740	45615741	rs7282490	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	21q22.3	NR	rs7282490-G	0.3934	6E-23	(EA)	1.1274672	[1.1-1.15]	Affymetrix, Illumina [~ 9000000] (imputed)	N
933	chr21	45615740	45615741	rs7282490	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	21q22.3	ICOSLG	rs7282490-G	0.391	2E-26		1.105	[1.072-1.138]	Affymetrix, Illumina [1230000] (imputed)	N
933	chr21	45647420	45647421	rs4819388	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	21q22.3	ICOSLG	rs4819388-?	0.72	2E-9		1.14	[1.09-1.19]	Illumina [292387]	N
933	chr21	45709152	45709153	rs2075876	21505073	Terao C	2011-04-19	Hum Mol Genet	The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.	Rheumatoid arthritis	1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls	4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls	21q22.3	AIRE, PFKL	rs2075876-A	0.34	4E-9		1.18	[1.11-1.24]	Illumina [241523]	N
936	chr21	46129685	46129686	rs875125	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 1,986 controls	NA	21q22.3	TSPEAR	rs875125-?	NR	4E-6		2.06	[1.51 - 2.83]	Illumina [533898] (imputed)	N
940	chr21	46570895	46570896	rs427943	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	21q22.3	ADARB1	rs427943-C	0.58	4E-7	(EA)	0.018	[0.011-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
940	chr21	46570895	46570896	rs427943	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	21q22.3	ADARB1	rs427943-C	0.58	2E-7	(EA, men)	0.025	[0.016-0.035] kg/m2 increase	Affymetrix, Illumina [2550021]	N
940	chr21	46570895	46570896	rs427943	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	21q22.3	ADARB1	rs427943-C	0.578	2E-7		0.018	[0.011-0.025] kg/m2 increase	Affymetrix, Illumina [2550021]	N
940	chr21	46629589	46629590	rs2838815	17903307	Wilk JB	2007-09-19	BMC Med Genet	Framingham Heart Study genome-wide association: results for pulmonary function measures.	Pulmonary function	Up to 1,222 individuals	NA	21q22.3	ADARB1	rs2838815-?	NR	3E-6	(meanratio)			Affymetrix [70897]	N
942	chr21	46846943	46846944	rs2838923	22745009	Melville SA	2012-05-15	Ann Neurol	Multiple loci influencing hippocampal degeneration identified by genome scan.	Hippocampal atrophy	1149 European ancestry Alzheimer disease cases, 336 European ancestry individuals with mild cognitive impairment, 188 European ancestry controls	419 African American Alzheimer disease cases	21q22.3	COL18A1	rs2838923-A	0.73	8E-7	(Hippocampal volume)			Illumina [2131250] (imputed)	N
944	chr21	47124177	47124178	rs4819143	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	21q22.3	PCBP3	rs4819143-C	0.06	1E-6	(Insulin)	17.0	[10.00 - 23.00] % decrease	Affymetrix [872243]	N
944	chr21	47165428	47165429	rs8127571	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	21q22.3	LOC100129027	rs8127571-A		2E-7	(AA)			Illumina [NR]	N
945	chr21	47211084	47211085	rs8133932	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	21q22.3	NR	rs8133932-C	NR	3E-6		1.0638298	[NR]	Illumina [7158791] (imputed)	N
946	chr21	47445790	47445791	rs4293630	21529783	Heath AC	2011-04-27	Biol Psychiatry	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Alcoholism (alcohol dependence factor score)	2,062 European ancestry alcohol dependence cases, 6,692 European ancestry controls	3,393 European ancestry individuals	21q22.3	intergenic	rs4293630-A	0.14	7E-6		0.108	[NR] unit increase	Illumina [~ 300000]	N
947	chr21	47488331	47488332	rs16978810	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking initiation	754 Bangladeshi ancestry never smoker males, 2,565 Bangladeshi ancestry never smoker females, 1,837 Bangladeshi ancestry ever smoker males, 198 Bangladeshi ancestry ever smoker females	NA	21q22.3	NR	rs16978810-?		3E-7	(females)			Illumina [1211988] (imputed)	N
948	chr21	47690067	47690068	rs2839186	25877299	Kristiansen W	2015-04-15	Hum Mol Genet	Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.	Testicular germ cell tumor	1,326 European ancestry cases, 6,687 European ancestry controls	710 European ancestry case-parent triads, 289 European ancestry cases, 290 European ancestry controls	21q22.3	MCM3AP	rs2839186-T	0.443	3E-6		1.23	[NR]	Illumina [610240]	N
948	chr21	47690067	47690068	rs2839186	23666240	Ruark E	2013-05-12	Nat Genet	Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.	Testicular germ cell tumor	986 European ancestry cases, 4,946 European ancestry controls	1,064 European ancestry cases, 10,082 European ancestry controls	21q22.3	MCM3AP	rs2839186-T	0.46	1E-9		1.26	[1.15-1.38]	Illumina [307291]	N
949	chr21	47718795	47718796	rs112591243	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	361 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 440 European ancestry current smoker individuals, 452 Latino current smoker individuals, 702 Japanese ancestry current smoker individuals	NA	21q22.3	NR	rs112591243-?	NR	3E-6	(Native Hawaiian)	0.6857	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
951	chr21	48019867	48019868	rs881827	22286170	Cusanovich DA	2012-01-27	Hum Mol Genet	The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.	Lymphocyte counts	462 Hutterite individuals	NA	21q22.3	S100B	rs881827-?	NR	9E-6				Affymetrix [279749]	N
710	chr22	16504398	16504399	rs4911642	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	22q11.1	CCT8L2, psiTPTE22	rs4911642-C		5E-6				Illumina [944512] (imputed)	N
715	chr22	17057137	17057138	rs5746647	22174851	Lingappa JR	2011-12-12	PLoS One	Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.	HIV-1 viral setpoint	496 African ancestry cases	NA	22q11.1	KB-67B5.12	rs5746647-?	NR	2E-6				Illumina [990115]	N
719	chr22	17597461	17597462	rs971768	25130324	Cai DC	2014-08-29	Genes Brain Behav	A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.	Heschl's gyrus morphology	1,778 European ancestry individuals, 1,276 individuals	NA	22q11.1	CECR6, IL17RA	rs971768-A	0.07	2E-6	(Right HG area)	13.91	unit increase	Affymetrix, Illumina [4103035] (imputed)	N
720	chr22	17718605	17718606	rs5747035	25648963	Debette S	2014-11-25	Biol Psychiatry	Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.	Verbal declarative memory	Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals	Up to 10,617 European ancestry individuals, up to 3,811 African American individuals	22q11.1	CECR1, CECR5	rs5747035-T	0.93	1E-6	(RAVLT-dr, EA)	0.6585	[0.39-0.92] unit increase	Affymetrix, Illumina [NR] (imputed)	N
724	chr22	18260703	18260704	rs10048897	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	22q11.21	MICAL3, BID	rs10048897-G	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
724	chr22	18283246	18283247	rs5992105	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	22q11.21	NR	rs5992105-?		9E-6	(AA)			Illumina [up to 524000]	N
725	chr22	18439957	18439958	rs1076540	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	22q11.21	MICAL3	rs1076540-C	0.78	1E-16		4.8	[3.50-6.10] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
725	chr22	18448112	18448113	rs1978968	23509613	Kamboh MI	2013-02-24	Autoimmune Dis	Genome-wide association study of antiphospholipid antibodies.	Presence of antiphospholipid antibodies	183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls	NA	22q11.21	MICAL3	rs1978968-?	0.2144	2E-6	(LAC)	2.235	[NR]	Affymetrix [906600]	N
729	chr22	18886813	18886814	rs144073979	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	22q11.21	NR	rs144073979-?	NR	1E-6	(AA)	0.8925	[NR] unit decrease	Illumina [up to 11892802] (imputed)	N
729	chr22	18915346	18915347	rs2238732	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Amino acid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	22q11.21	PRODH	rs2238732-T	0.0524	3E-39	(Proline)	0.1815	[0.15-0.21] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
729	chr22	18959683	18959684	rs2540641	26068415	Draisma HH	2015-06-12	Nat Commun	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Amino acid levels	up to 7,478 European ancestry individuals	1,182 European ancestry individuals	22q11.21	PRODH	rs2540641-A	0.0927	2E-59	(Proline)	0.147	[0.13-0.16] unit increase	Affymetrix, Illumina [at least 296619] (imputed)	N
729	chr22	18959683	18959684	rs2540641	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	22q11.21	PRODH	rs2540641-A	0.08	3E-59	(proline)	0.063	[0.055-0.071] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
729	chr22	18965627	18965628	rs11914070	26219847	Adams HH	2015-07-28	J Gerontol A Biol Sci Med Sci	Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants.	Gait variability	2,946 individuals	NA	22q11.21	DGCR5	rs11914070-T	0.39	2E-7		0.136	[0.085-0.187] unit decrease	Illumina [6200000] (imputed)	N
729	chr22	18966616	18966617	rs2540647	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	22q11.21	PRODH	rs2540647-A	0.09	2E-70	(valine/proline)	0.059	[0.053-0.065] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
729	chr22	18972449	18972450	rs2023634	21886157	Suhre K	2011-08-31	Nature	Human metabolic individuality in biomedical and pharmaceutical research.	Metabolic traits	2,820 European ancestry individuals	NA	22q11.21	PRODH	rs2023634-G	0.091	2E-22	(proline + 5 other traits)	0.113	[NR] unit increase	Affymetrix, Illumina [534665]	N
729	chr22	18981562	18981563	rs1210638	25897834	Biernacka JM	2015-04-21	Transl Psychiatry	The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.	Response to serotonin reuptake inhibitors in major depressive disorder	298 European ancestry cases, 567 Asian ancestry cases, 1529 European and other ancestry cases	NA	22q11.21	DGCR5	rs1210638-?	NR	6E-6	(Response)	1.33	[NR]	Illumina [~ 7000000] (imputed)	N
731	chr22	19154521	19154522	rs807669	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Metabolite levels	8,330 European ancestry individuals	NA	22q11.21	SLC25A1	rs807669-?	NR	3E-16	(Citrate)	0.14	[0.1-0.18] unit decrease	Illumina [~ 7700000] (imputed)	N
731	chr22	19156116	19156117	rs712964	22916037	Inouye M	2012-08-16	PLoS Genet	Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.	Metabolite levels	6,608 European ancestry individuals	NA	22q11.21	GSC2, CLTCL1, SLC25A1	rs712964-?	0.41	3E-11				Illumina [~ 2000000] (imputed)	N
734	chr22	19565256	19565257	rs2106139	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.21	NR	rs2106139-G	0.966774019767961	6E-6	(IGP56)	0.4353	[0.25-0.62] unit decrease	Illumina [~ 2500000] (imputed)	N
735	chr22	19691501	19691502	rs4819833	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (parent-of-origin)	1,024 European ancestry individuals	NA	22q11.21	GP1BB, AC000093.3, TBX1, SEPT5	rs4819833-C	0.34	6E-8	(IGF2-DMR CpG01)			Illumina [515966]	N
735	chr22	19757891	19757892	rs2238776	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	22q11.21	TBX1	rs2238776-G	0.8	2E-8		1.08	[1.05-1.11]	Affymetrix, Illumina [up to 16852405] (imputed)	N
735	chr22	19757891	19757892	rs2238776	25217961	Al Olama AA	2014-09-14	Nat Genet	A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.	Prostate cancer	34,379 European ancestry cases, 33,164 European ancestry controls, 5,327 African ancestry cases, 5,136 African ancestry controls, 2,563 Japanese ancestry cases, 4,391 Japanese ancestry controls, 1,034 Latino cases, 1,046 Latino controls	NA	22q11.21	TBX1	rs2238776-G	0.8	2E-7	(EA)	1.09	[1.06-1.12]	Affymetrix, Illumina [up to 16852405] (imputed)	N
735	chr22	19763977	19763978	rs41297816	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	22q11.21	TBX1, GNB1L	rs41297816-G	NR	1E-7		1.3513513	[NR]	Illumina [up to 9792010] (imputed)	N
736	chr22	19879636	19879637	rs3804047	24847357	Ye Z	2014-05-09	Front Genet	Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.	Staphylococcus aureus infection	309 European ancestry cases, 2,925 European ancestry controls	NA	22q11.21	TXNRD2	rs3804047-C	0.281143	3E-6		1.52	[1.27-1.81]	Illumina [508921]	N
736	chr22	19889824	19889825	rs3788317	22922875	Vithana EN	2012-08-26	Nat Genet	Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.	Glaucoma (primary angle closure)	1,281 East Asian ancestry cases, 1,987 East Asian ancestry controls, 337 South Indian ancestry cases, 2,538 South Indian ancestry controls, 236 South East Asian ancestry cases, 5,083 South East Asian ancestry controls	1,545 East Asian ancestry cases, 3,756 East Asian ancestry controls, 165 Saudi Arabian ancestry cases, 175 Saudi Arabian ancestry controls, 127 European ancestry cases, 4,703 European ancestry controls, 80 Indian ancestry cases, 309 Indian ancestry controls	22q11.21	TXNRD2	rs3788317-?	NR	2E-7		1.22	[NR]	Illumina [493501]	N
737	chr22	19948336	19948337	rs4646312	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	22q11.21	NR	rs4646312-C	NR	8E-6		1.25	[NR]	Illumina [up to 9792010] (imputed)	N
737	chr22	19951270	19951271	rs4680	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	22q11.21	COMT	rs4680-A	0.51	5E-178	(X-11593--O-methylascorbate)	0.049	[0.045-0.053] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
737	chr22	19951270	19951271	rs4680	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	22q11.21	COMT	rs4680-A	0.51	1E-13	(X-01911)	0.044	[0.032-0.056] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
737	chr22	19984276	19984277	rs1034566	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	22q11.21	ARVCF	rs1034566-T	NR	3E-8		2.128	[1.38-2.88] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
738	chr22	20134349	20134350	rs1974653	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q11.21	NR	rs1974653-A	NR	8E-6		1.06	[NR]	Illumina [7158791] (imputed)	N
739	chr22	20228541	20228542	rs701428	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	22q11.21	RTN4R	rs701428-G	0.472	2E-6	(MCP1 )	0.04	[NR] pg/mL increase	Illumina [899892]	N
743	chr22	20797288	20797289	rs5763911	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	22q11.21	KLHL22	rs5763911-T	0.96	6E-6		0.52	[0.3-0.74] unit decrease	Illumina [2675979] (imputed)	N
747	chr22	21321789	21321790	rs73164810	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	22q11.21	NR	rs73164810-?	NR	7E-7	(EA)	0.4181	[0.26-0.58] unit increase	Illumina [up to 11892802] (imputed)	N
748	chr22	21382481	21382482	rs2075277	25017104	Kottyan LC	2014-07-13	Nat Genet	Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.	Eosinophilic esophagitis	657 European ancestry cases, 9,296 European ancestry controls	NA	22q11.21	NR	rs2075277-?	0.09	9E-7		1.544	[NR]	Illumina [1468075]	N
748	chr22	21431053	21431054	rs400946	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Antibody status in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	22q11.21	NR	rs400946-?	NR	3E-6				Affymetrix [5486770] (imputed)	N
752	chr22	21917189	21917190	rs131654	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	22q11.21	UBE2L3, HIC2	rs131654-A	0.48	1E-16		1.28	[1.20-1.35]	Illumina [493955]	N
752	chr22	21922903	21922904	rs2266959	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	22q11.21	YDJC, UBE2L3, RIMBP3, CCDC116, MAPK1	rs2266959-T	0.186	1E-16		1.105	[1.066-1.145]	Affymetrix, Illumina [1230000] (imputed)	N
752	chr22	21925016	21925017	rs2256609	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q11.21	NR	rs2256609-G	0.1971	6E-12	(EA)	1.1082332	[1.08-1.14]	Affymetrix, Illumina [~ 9000000] (imputed)	N
752	chr22	21928596	21928597	rs2266961	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q11.21	NR	rs2266961-?	NR	3E-13	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
752	chr22	21928640	21928641	rs181359	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	22q11.21	YDJC	rs181359-T	0.203	5E-16		1.1	[1.06-1.15]	Affymetrix, Illumina [953241] (imputed)	N
752	chr22	21932067	21932068	rs181362	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	HDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	22q11.21	UBE2L3	rs181362-T	0.23	4E-18		0.038	[NR] unit decrease	NR [NR] (imputed)	N
752	chr22	21932067	21932068	rs181362	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	HDL cholesterol	99,900 European ancestry individuals	NA	22q11.21	UBE2L3	rs181362-T	0.2	1E-8		0.46	[0.28-0.64] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
752	chr22	21939674	21939675	rs5754217	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	22q11.21	UBE2L3	rs5754217-T	0.56	5E-6		1.1236		Illumina [2100739] (imputed)	N
752	chr22	21939674	21939675	rs5754217	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	22q11.21	YDJC, UBE2L3	rs5754217-G	0.83	9E-10	(EA, MCV)	0.194	[0.13-0.25] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
752	chr22	21939674	21939675	rs5754217	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	22q11.21	UBE2L3	rs5754217-T	0.19	2E-6	(anti-dsDNA +)	1.38	[1.21-1.57]	Illumina [421318] (imputed)	N
752	chr22	21963785	21963786	rs5754344	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	HDL cholesterol	up to 62,166 European ancestry individuals	NA	22q11.21	UBE2L3	rs5754344-A	0.78	2E-10		0.045	[0.031-0.059] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
752	chr22	21964760	21964761	rs4821112	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	22q11.21	UBE2L3, HIC2	rs4821112-A	0.47	1E-8		0.067	[0.043-0.091] unit decrease	Illumina [561583]	N
752	chr22	21973318	21973319	rs4821116	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	22q11.21	UBE2L3	rs4821116-G	0.59	2E-12		1.2195	[1.15-1.3]	Illumina [490610]	N
752	chr22	21979095	21979096	rs11089637	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	22q11.21	YDJC, UBE2L3	rs11089637-C	0.26	2E-9		1.08	[1.05-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
752	chr22	21979095	21979096	rs11089637	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	22q11.21	YDJC, UBE2L3	rs11089637-C	0.16	2E-7	(EA)	1.1	[1.06-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
752	chr22	21982891	21982892	rs2298428	21383967	Zhernakova A	2011-02-24	PLoS Genet	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Celiac disease or Rheumatoid arthritis	4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls	2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, 7,199 European ancestry controls	22q11.21	UBE2L3	rs2298428-T	NR	3E-10				Illumina [472854]	N
752	chr22	21982891	21982892	rs2298428	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	22q11.21	YDJC, UBE2L3	rs2298428-A	0.20	2E-7		1.13	[1.08-1.19]	Illumina [292387]	N
753	chr22	22047968	22047969	rs79384503	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	PR interval in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	22q11.21	NR	rs79384503-?	NR	2E-6				Affymetrix [5486770] (imputed)	N
753	chr22	22063336	22063337	rs5749696	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q11.22	NR	rs5749696-C	NR	7E-6		1.0526316	[NR]	Illumina [7158791] (imputed)	N
753	chr22	22131124	22131125	rs2283792	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	22q11.22	MAPK1	rs2283792-C	NR	5E-9		1.1	[1.08-1.11]	Illumina [465434]	N
755	chr22	22307518	22307519	rs412050	18839057	Lesch KP	2008-10-07	J Neural Transm	Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.	Attention deficit hyperactivity disorder	343 European ancestry cases, 250 European ancestry controls, 54 controls	NA	22q11.22	PPM1F	rs412050-?	NR	6E-6				Affymetrix [504219]	N
755	chr22	22381767	22381768	rs410285	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	22q11.22	NR	rs410285-G	0.011	1E-6		6.45	[3.04-13.67]	Illumina [7261187] (imputed)	N
756	chr22	22436318	22436319	rs16982689	26174813	Alemany S	2015-07-14	Am J Med Genet B Neuropsychiatr Genet	New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.	Attention function in attention deficit hyperactive disorder	479 European ancestry adult cases	NA	22q11.22	TOP3B	rs16982689-T	0.022	6E-6	(HRTSE)	2.67	[1.51-3.83] unit increase	Illumina [799713]	N
756	chr22	22506568	22506569	rs11089937	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (PAL4Q3)	up to 2,969 European ancestry individuals	NA	22q11.22	VPREB1	rs11089937-A	0.58	8E-6	(Age 20-60 years)	1.33	[1.17-1.51]	Affymetrix, Illumina [up to 17585496] (imputed)	N
756	chr22	22512414	22512415	rs987710	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron status biomarkers	336 European ancestry iron deficiency cases, 343 European ancestry controls	71 European ancestry iron deficiency cases, 161 European ancestry controls	22q11.22	intergenic	rs987710-G	NR	5E-7	(Body iron)	2.01	[NR] unit increase	Illumina [331060]	N
756	chr22	22512414	22512415	rs987710	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron status biomarkers	336 European ancestry iron deficiency cases, 343 European ancestry controls	71 European ancestry iron deficiency cases, 161 European ancestry controls	22q11.22	intergenic	rs987710-G	NR	1E-6	(Serum ferritin concentration)	0.44	[NR] unit increase	Illumina [331060]	N
756	chr22	22512414	22512415	rs987710	21483845	McLaren CE	2011-03-31	PLoS One	Genome-wide association study identifies genetic loci associated with iron deficiency.	Iron deficiency	336 European ancestry cases, 343 European ancestry controls	71 European ancestry cases, 161 European ancestry controls	22q11.22	intergenic	rs987710-?	NR	1E-6	(Case-control)	1.67	[NR]	Illumina [331060]	N
759	chr22	22845239	22845240	rs5751168	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	22q11.22	ZNF280B	rs5751168-?	NR	4E-6	(rs7679673)	1.44	[1.23-1.67]	Affymetrix, Illumina [1117531] (imputed)	N
764	chr22	23477969	23477970	rs4820539	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	22q11.23	RTDR1	rs4820539-A	0.42	2E-7	(FNBMD)	0.03	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
765	chr22	23593050	23593051	rs5751614	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	22q11.23	BCR, GNAZ, RTDR1, IGLL1	rs5751614-A	0.49	6E-6		4.3	[2.34-6.26] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
765	chr22	23644793	23644794	rs9608102	22542470	Ovsyannikova IG	2012-04-25	Vaccine	Genome-wide association study of antibody response to smallpox vaccine.	Immune response to smallpox vaccine (IL-6)	217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals	NA	22q11.23	BCR	rs9608102-?		8E-6	(EA)			Illumina [NR]	N
766	chr22	23765264	23765265	rs4822410	22424883	Imboden M	2012-03-15	J Allergy Clin Immunol	Genome-wide association study of lung function decline in adults with and without asthma.	Pulmonary function decline	1,441 European ancestry asthma cases, 2,677 European ancestry controls	1,160 European ancestry asthma cases, 10,858 European ancestry controls	22q11.23	intergenic	rs4822410-?	NR	3E-6	(FEV1/FVC decline in asthmatics)	0.5411	[0.32-0.77] unit decrease	Illumina [~ 2500000] (imputed)	N
767	chr22	23890835	23890836	rs131408	25009551	Kullo IJ	2014-06-25	Front Genet	The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.	Peripheral artery disease	1,641 European ancestry cases, 1,604 European ancestry controls	740 European ancestry cases, 1,501 European ancestry controls	22q11.23	LOC388882, IGLL1	rs131408-C	NR	6E-6		1.211	[1.11-1.32]	Illumina [537872]	N
767	chr22	23922982	23922983	rs140174	21448238	Ligthart L	2011-03-30	Eur J Hum Genet	Meta-analysis of genome-wide association for migraine in six population-based European cohorts.	Migraine	2,116 European ancestry cases, 7,318 European ancestry controls, 330 Dutch founder cases, 1,216 Dutch founder controls	2,957 European ancestry cases, 5,774 European ancestry controls	22q11.23	IGLL1	rs140174-G	0.26	8E-6		1.08	[NR]	Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.190211496872207	2E-8	(IGP74)	0.2357	[0.15-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189826451627285	4E-9	(IGP75)	0.2454	[0.16-0.33] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189823636647347	2E-8	(IGP69)	0.2336	[0.15-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189663332739421	4E-9	(IGP63)	0.2445	[0.16-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189660889532294	7E-16	(IGP49)	0.3363	[0.25-0.42] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189660889532294	3E-13	(IGP9)	0.304	[0.22-0.39] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189640669950739	5E-10	(IGP50)	0.2588	[0.18-0.34] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189580990204809	8E-15	(IGP68)	0.324	[0.24-0.41] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189579642030276	1E-12	(IGP62)	0.2948	[0.21-0.38] unit increase	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189518247657296	1E-10	(IGP39)	0.267	[0.19-0.35] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189496820649755	9E-17	(IGP71)	0.347	[0.27-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189496820649755	4E-6	(IGP45)	0.1924	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189496820649755	3E-8	(IGP14)	0.2294	[0.15-0.31] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189496820649755	2E-8	(IGP76)	0.2333	[0.15-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189496820649755	2E-7	(IGP54)	0.2177	[0.14-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189496820649755	2E-14	(IGP64)	0.3184	[0.24-0.4] unit increase	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189496820649755	1E-16	(IGP70)	0.3451	[0.26-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189496820649755	1E-12	(IGP67)	0.2938	[0.21-0.38] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189496820649755	1E-10	(IGP40)	0.2653	[0.18-0.35] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189377544642857	9E-10	(IGP10)	0.2557	[0.17-0.34] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-G	0.189358691006233	9E-17	(IGP72)	0.3471	[0.27-0.43] unit increase	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q11.23	NR	rs2186369-G	0.189496820649755	9E-17	(IGP66)	0.3473	[0.27-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
769	chr22	24170995	24170996	rs2186369	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	1,848 European ancestry individuals	NA	22q11.23	SMARCB1, DERL3	rs2186369-T	0.81823	2E-7	(IgG1G1N)	0.0667	[0.042-0.092] unit increase	Illumina [~ 2500000] (imputed)	N
770	chr22	24295285	24295286	rs2739330	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	22q11.23	DDT, DDTL, GSTT1, GSTT2B, MIF	rs2739330-T	0.42	2E-9		3.7	[2.70-4.60] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
772	chr22	24582040	24582041	rs8141797	23624525	Deng M	2013-04-28	Nat Genet	Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.	Amyotrophic lateral sclerosis	506 Han Chinese ancestry cases, 1,859 Han Chinese ancestry controls	706 Han Chinese ancestry cases, 1,777 Han Chinese ancestry controls	22q11.23	SUSD2, CABIN1, GGT5	rs8141797-G	0.1026	2E-9		1.52	[NR]	Illumina [473683]	N
774	chr22	24844882	24844883	rs17651189	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	22q11.23	SNRPD3, SPECC1L, TMEM211, TOP1P2, UNQ2565, UPB1, GSTT1, SUSD2, GGT5, ADORA2A, ADORA2A-AS1, BCRP3, CABIN1, DKFZp434K191, DQ570150, DQ571461, DQ576853, EU036692, FAM211B, GGT1, GSTTP2, GUCD1, LOC391322, PIWIL3, POM121L10P, POM121L9P, SGSM1	rs17651189-C	0.0507	6E-7		1.44	[1.24-1.68]	Illumina [7300000] (imputed)	N
775	chr22	24990212	24990213	rs4820599	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Gamma glutamyl transpeptidase	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	22q11.23	GGT1, C22orf36	rs4820599-G	0.24	7E-53		0.0088	[0.0076-0.0100] IU/L decrease	Affymetrix [~ 2200000] (imputed)	N
775	chr22	24990212	24990213	rs4820599	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	22q11.23	GGT1, C22orf36	rs4820599-G	0.31	4E-11	(GGT)	0.01	[0.005-0.009] U/L increase	Affymetrix, Illumina [up to 496032]	N
775	chr22	24992265	24992266	rs5751901	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	22q11.23	GGT1	rs5751901-?	0.39	2E-7	(GGT1)			Illumina [496032]	N
775	chr22	24996629	24996630	rs5751902	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	22q11.23	GGT1	rs5751902-T	0.37	8E-20	(GGT)	0.172	[0.13-0.21] unit decrease	Illumina [561583]	N
775	chr22	24999103	24999104	rs2073398	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (gamma-glutamyl transferase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	22q11.23	GGT1, GGTLC2	rs2073398-G	0.34	1E-109		12.3	[10.90-13.70] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
775	chr22	25002080	25002081	rs2330809	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	22q11.23	GGT1	rs2330809-T	0.32	2E-13	(cysteine-glutathione disulfide)	0.055	[0.041-0.069] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
778	chr22	25334976	25334977	rs5760748	25972035	Vinayagamoorthy N	2015-05-14	J Hum Genet	Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.	Calcium levels	4,558 Korean ancestry individuals	4,093 Korean ancestry individuals	22q11.23	TMEM211	rs5760748-C	0.31	9E-6		0.00179	[0.001-0.00258] unit decrease	Affymetrix [1219546] (imputed)	N
782	chr22	25875264	25875265	rs1930961	23092984	Goes FS	2012-10-23	Transl Psychiatry	Genome-wide association of mood-incongruent psychotic bipolar disorder.	Bipolar disorder with mood-incongruent psychosis	2,196 European and other ancestry cases, 8,148 European and other ancestry controls	NA	22q11.23	CRYBB2P1	rs1930961-?	NR	9E-6		1.39	[NR]	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr22	26159288	26159289	rs133885	23423138	Ludwig KU	2013-02-19	Transl Psychiatry	A common variant in myosin-18B contributes to mathematical abilities in children with dyslexia and intraparietal sulcus variability in adults.	Mathematical ability in children with dyslexia	200 European ancestry cases	510 European ancestry cases	22q12.1	MYO18B	rs133885-?	NR	8E-10		4.87	% increase	Illumina [NR]	N
784	chr22	26189656	26189657	rs5752209	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	22q12.1	NR	rs5752209-C	0.9844	3E-7	(Trans/trans-18:2, EA)	0.01	[0.0061-0.0139] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr22	26204551	26204552	rs8184969	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	22q12.1	NR	rs8184969-T	0.0153	2E-6	(Trans/trans-18:2, EA)	0.0087	[0.005-0.0124] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
784	chr22	26207909	26207910	rs5752223	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	22q12.1	NR	rs5752223-T	0.0153	3E-6	(Trans/trans-18:2, EA)	0.0087	[0.005-0.0124] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
786	chr22	26378072	26378073	rs6004862	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	22q12.1	MYO18B	rs6004862-T	0.16	6E-6	(women)	0.097	[0.056-0.138] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
786	chr22	26378072	26378073	rs6004862	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	22q12.1	MYO18B	rs6004862-T	0.16	4E-6		0.08	[0.047-0.113] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
786	chr22	26403598	26403599	rs1001021	20713499	Huang J	2010-08-16	Am J Psychiatry	Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.	Schizophrenia, bipolar disorder and depression (combined)	402 European ancestry schizophrenia cases, 1,021 European ancestry bipolar I cases, 493 European ancestry bipolar II cases, 1,210 European ancestry MDD cases, 1,060 European ancestry controls	NA	22q12.1	MYO18B	rs1001021-A	0.02	2E-6				Affymetrix, Perlegen [1574154] (imputed)	N
788	chr22	26653361	26653362	rs1207393	22837378	Wilk JB	2012-07-26	Am J Respir Crit Care Med	Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.	Airflow obstruction	up to 3,368 European ancestry cases, up to 29,507 European ancestry controls	331 European ancestry cases, 2,550 European ancestry controls	22q12.1	SEZ6L	rs1207393-?	0.64	5E-6	(FEV1 65%)	1.19		Affymetrix, Illumina [up to 2500000] (imputed)	N
788	chr22	26689634	26689635	rs688034	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Coronary heart disease	1,926 European ancestry cases, 2,938 European ancestry controls	(see Samani 2007)	22q12.1	intergenic	rs688034-T	0.31	4E-6		1.11	[0.99-1.25]	Affymetrix [469557]	N
788	chr22	26697194	26697195	rs591044	21901158	Irvin MR	2011-08-25	PLoS One	Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.	Insulin resistance/response	1,040 African American individuals	NA	22q12.1	SEZ6L	rs591044-A	0.37	6E-6	(Insulin)	9.0	[5.00 - 13.00] % increase	Affymetrix [872243]	N
788	chr22	26704560	26704561	rs2018293	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Vascular brain injury	up to 2,940 individuals	NA	22q12.1	SEZ6L	rs2018293-T	0.185	8E-6	(Ordinal)	0.3091	[0.17-0.44] unit increase	Affymetrix, Illumina [NR] (imputed)	N
789	chr22	26843989	26843990	rs5752326	26089329	Carty CL	2015-06-18	Stroke	Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.	Ischemic stroke	up to 1,365 African American cases, up to 13,154 African American controls	European ancestry individuals (see Traylor, 2012)	22q12.1	HPS4	rs5752326-T	0.79	9E-7	(AA)	0.31	[0.19-0.43] unit decrease	Affymetrix, Illumina [~ 2600000] (imputed)	N
791	chr22	27011419	27011420	rs4822752	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	22q12.1	NR	rs4822752-?	NR	9E-6		1.216	[NR]	Affymetrix [722112]	N
791	chr22	27041282	27041283	rs16982515	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q12.1	NR	rs16982515-C	0.919024750334374	3E-6	(IGP35)	0.3117	[0.18-0.44] unit decrease	Illumina [~ 2500000] (imputed)	N
791	chr22	27042105	27042106	rs744016	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	22q12.1	intergenic	rs744016-A	0.20	5E-6		0.17	[0.09-0.25] unit decrease	Illumina [~ 318327]	N
791	chr22	27051298	27051299	rs739310	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	22q12.1	MIAT	rs739310-G	0.227	7E-6	(Diet protein )	0.01	[NR] %energy increase	Illumina [899892]	N
791	chr22	27066534	27066535	rs7985	25387704	Malone SM	2014-12-01	Psychophysiology	Heritability and molecular-genetic basis of resting EEG activity: A genome-wide association study.	Electroencephalogram traits	2,383 European ancestry adolescents and 1,643 European ancestry adults from 1,613 families	NA	22q12.1	MIAT	rs7985-?	NR	3E-6	(Theta power, Cz)	0.068	[0.039-0.097] unit decrease	Illumina [527829]	N
793	chr22	27343453	27343454	rs16983214	24684796	Cox AJ	2014-03-11	Neurobiol Aging	Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study.	Cognitive function	423 type 2 diabetes cases and 127 unaffected siblings from 257 families	NA	22q12.1	intergenic	rs16983214-A	0.04	2E-6	(Stroop)	0.378	[0.23-0.53] unit decrease	Affymetrix [> 371951] (imputed)	N
794	chr22	27416824	27416825	rs4417	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	22q12.1	MIAT	rs4417-A	0.12	5E-6	(multivariate)			Illumina [319818]	N
794	chr22	27435819	27435820	rs742004	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA/MHPG ratio)	up to 398 European ancestry individuals	NA	22q12.1	AK055980	rs742004-A		3E-6		0.2973	unit increase	Illumina [5767231] (imputed)	N
797	chr22	27852182	27852183	rs6005451	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	22q12.1	MN1	rs6005451-?	NR	4E-6	(rs445114)	1.42	[1.22-1.65]	Affymetrix, Illumina [1117531] (imputed)	N
797	chr22	27915945	27915946	rs11705126	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	22q12.1	MIAT, MN1	rs11705126-C	0.02	4E-6		0.236	[0.14-0.34] kg/m2 decrease	Affymetrix, Illumina [at least 188473] (imputed)	N
798	chr22	27929852	27929853	rs926937	25352737	Ritchie MD	2014-09-19	Mol Vis	Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.	Age-related cataracts	5,503 European, Black, and other ancestry cases age 50 and older, 1,894 European, Black, and other ancestry controls age 50 and older	NA	22q12.1	MN1, LOC100130624	rs926937-?	0.955	6E-6		1.17	[NR]	Illumina [530101]	N
798	chr22	28022727	28022728	rs133980	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	22q12.1	MN1	rs133980-?	NR	2E-8	(SBP,CPD)			Affymetrix [2485435] (imputed)	N
798	chr22	28022727	28022728	rs133980	25189868	Sung YJ	2014-09-03	Am J Hypertens	Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.	Blood pressure (smoking interaction)	Up to 6,889 individuals	NA	22q12.1	MN1	rs133980-?	NR	1E-8	(SBP,Pack-years)			Affymetrix [2485435] (imputed)	N
798	chr22	28029537	28029538	rs16985179	23743675	Kapoor M	2013-06-07	Hum Genet	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Alcohol consumption	2,322 European ancestry individuals from 118 families, 2,593 European ancestry individuals		22q12.1	intergenic	rs16985179-?	0.11	6E-6		0.12	[0.061-0.179] unit decrease	Illumina [4058415] (imputed)	N
799	chr22	28090206	28090207	rs5762311	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	22q12.1	intergenic	rs5762311-?	0.09	7E-6	(Recessive)	2.03	[1.49-2.75]	Affymetrix [319222]	N
800	chr22	28206911	28206912	rs11705555	26301497	Dina C	2015-08-24	Nat Genet	Genetic association analyses highlight biological pathways underlying mitral valve prolapse.	Mitral valve prolapse	1,442 European ancestry cases, 2,439 European ancestry controls	1,422 European ancestry cases, 6,779 European ancestry controls	22q12.1	MN1, PITPNB	rs11705555-C	0.26	1E-8		1.23	[1.15-1.33]	Affymetrix, Illumina [~ 4800000] (imputed)	N
801	chr22	28378471	28378472	rs5762430	21552555	Wang K	2011-04-28	PLoS One	A genome-wide association study on obesity and obesity-related traits.	Obesity	520 European ancestry cases, 540 European ancestry controls	1,196 European ancestry individuals	22q12.1	PITPNB	rs5762430-?	NR	7E-7	(HIP)			Illumina [~ 550000]	N
807	chr22	29100710	29100711	rs1547014	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	22q12.1	CHEK2	rs1547014-T	NR	5E-20		0.013	[0.011-0.015] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
807	chr22	29100710	29100711	rs1547014	20548946	Ramdas WD	2010-06-10	PLoS Genet	A genome-wide association study of optic disc parameters.	Vertical cup-disc ratio	7,360 European ancestry individuals	4,455 European ancestry individuals	22q12.1	CHEK2	rs1547014-T	0.29	1E-8		0.01	[0.007-0.015] mm2 decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
807	chr22	29115065	29115066	rs4822983	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer (squamous cell)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	22q12.1	CHEK2	rs4822983-T	0.20	2E-22		1.27	[1.21-1.34]	NR [NR]	N
807	chr22	29121086	29121087	rs17879961	24880342	Wang Y	2014-06-01	Nat Genet	Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.	Lung cancer	3,442 European ancestry adenocarcinoma cases, 3,275 European ancestry squamous cell carcinoma cases, 4,631 cases, up to 15,861 controls	3,589 European ancestry adenocarcinoma cases, 3,202 European ancestry squamous cell carcinoma cases, 3,455 cases, up to 38,295 controls	22q12.1	CHEK2	rs17879961-A	0.9975	3E-11	(All lung cancer)	1.67	[1.43-1.92]	Illumina [8900000] (imputed)	N
807	chr22	29121086	29121087	rs17879961	24880342	Wang Y	2014-06-01	Nat Genet	Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.	Lung cancer	3,442 European ancestry adenocarcinoma cases, 3,275 European ancestry squamous cell carcinoma cases, 4,631 cases, up to 15,861 controls	3,589 European ancestry adenocarcinoma cases, 3,202 European ancestry squamous cell carcinoma cases, 3,455 cases, up to 38,295 controls	22q12.1	CHEK2	rs17879961-A	0.9975	1E-13	(Squamous cell carcinoma)	2.63	[2.04-3.33]	Illumina [8900000] (imputed)	N
807	chr22	29130011	29130012	rs738722	20729852	Abnet CC	2010-08-22	Nat Genet	A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.	Esophageal cancer and gastric cancer	1,625 Chinese ancestry gastric cancer cases, 1,898 Chinese ancestry ESCC cases, 2,100 Chinese ancestry controls	NA	22q12.1	HSCB, CHEK2	rs738722-T	0.25	1E-8	(ESCC)	1.3	[1.19-1.43]	Illumina [551152]	N
807	chr22	29130299	29130300	rs1033667	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	22q12.1	CHEK2	rs1033667-T	0.28	4E-16	(EA)	0.025	[0.019-0.031] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
807	chr22	29130299	29130300	rs1033667	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals	2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	22q12.1	CHEK2	rs1033667-T	0.28	1E-17		0.023	[0.017-0.029] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
807	chr22	29161006	29161007	rs4820792	22747683	Eriksson N	2012-06-30	BMC Med Genet	Genetic variants associated with breast size also influence breast cancer risk.	Breast size	16,175 European ancestry female individuals	NA	22q12.1	MTFP1, LOC646513, SEC14L2, SDC4P, CHEK2	rs4820792-T	.180	4E-7		0.105	[0.065-.146] cup size increase	Illumina [7422970] (imputed)	N
807	chr22	29192669	29192670	rs2239815	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	22q12.1	CHEK2, CCDC117, XBP1	rs2239815-T	0.387	4E-7		1.16	[1.1-1.23]	Affymetrix, Illumina [7556215] (imputed)	N
807	chr22	29192669	29192670	rs2239815	22960999	Wu C	2012-09-09	Nat Genet	Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.	Esophageal cancer (squamous cell)	2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls	8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls	22q12.1	XBP1	rs2239815-T	0.37	4E-15		1.18	[1.13-1.23]	NR [NR]	N
808	chr22	29300305	29300306	rs16986825	25086665	Wolpin BM	2014-08-03	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.	Pancreatic cancer	1,582 European ancestry cases, 5,203 European ancestry controls	6,101 European ancestry cases, 9,194 European ancestry controls	22q12.1	SNORD125, RHBDD3, EWSR1, CHEK2, TTC28, HSCB, CCDC117, XBP1, ZNRF3, KREMEN1, ZNRF3-AS1, C22orf31, EMID1, GAS2L1, RASL10A, AP1B1, MIR3653	rs16986825-T	0.149	1E-8		1.18	[1.12-1.25]	Illumina [608202]	N
809	chr22	29449476	29449477	rs2294239	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	22q12.1	ZNRF3, KREMEN1	rs2294239-A	0.5922	6E-12		0.0233	[0.017-0.03] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
809	chr22	29449476	29449477	rs2294239	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	22q12.1	ZNRF3, KREMEN1	rs2294239-A	0.5907	4E-9	(women)	0.0267	[0.018-0.036] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
809	chr22	29449476	29449477	rs2294239	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	22q12.1	ZNRF3, KREMEN1	rs2294239-A	0.5896	7E-6	(men)	0.0221	[0.012-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
809	chr22	29449476	29449477	rs2294239	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	22q12.1	ZNRF3, KREMEN1	rs2294239-A	0.5885	2E-6	(EA, men)	0.024	[0.014-0.034] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
809	chr22	29449476	29449477	rs2294239	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	22q12.1	ZNRF3, KREMEN1	rs2294239-A	0.5866	7E-13	(EA)	0.0252	[0.018-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
809	chr22	29449476	29449477	rs2294239	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	22q12.1	ZNRF3, KREMEN1	rs2294239-A	0.5847	7E-10	(EA, women)	0.0284	[0.019-0.037] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
809	chr22	29451670	29451671	rs4823006	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	22q12.1	ZNRF3, KREMEN1	rs4823006-A	0.57	1E-11		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
810	chr22	29621476	29621477	rs132390	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	22q12.2	EMID1, RHBDD3, EWSR1, CHEK2	rs132390-C	0.036	3E-9		1.12	[1.07-1.18]	Affymetrix, Illumina [~ 2600000] (imputed)	N
812	chr22	29793640	29793641	rs2267138	23049088	Meng W	2012-10-09	Invest Ophthalmol Vis Sci	A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.	Myopia (pathological)	187 European ancestry cases, 1064 European ancestry controls		22q12.2	intergenic	rs2267138-?	0.131	3E-6			[NR]	Affymetrix, Illumina [152234]	N
812	chr22	29847721	29847722	rs13053817	20009918	Shrestha S	2010-01-01	AIDS	A genome-wide association study of carotid atherosclerosis in HIV-infected men.	Carotid atherosclerosis in HIV infection	177 European ancestry individuals	NA	22q12.2	RFPL1, THOC5, NF2, AP1B1	rs13053817-A	0.18	2E-6	(common cIMT)			Illumina [311194]	N
813	chr22	29929238	29929239	rs8135828	24023261	Keller M	2013-09-10	J Lipid Res	THOC5: a novel gene involved in HDL-cholesterol metabolism.	Lipid traits	839 European ancestry individuals	up to 5,248 European ancestry individuals	22q12.2	THOC5	rs8135828-A	0.15	2E-7	(HDL-C)	0.11	[0.034-0.186] unit decrease	Affymetrix [390619]	N
815	chr22	30225972	30225973	rs73394838	24478790	Lee JH	2014-01-17	Front Genet	Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.	Telomere length	4,829 European ancestry individuals from 586 families with exceptional longevity	NA	22q12.2	ASCC2	rs73394838-G	0.056	9E-6			[NR]	Illumina [9250000] (imputed)	N
816	chr22	30337585	30337586	rs36600	21725308	Hu Z	2011-07-03	Nat Genet	A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.	Lung cancer	2,331 Han Chinese ancestry cases, 3,077 Han Chinese ancestry controls	6,313 Han Chinese ancestry cases, 6,409 Han Chinese ancestry controls	22q12.2	MTMR3	rs36600-A	0.09	6E-13		1.29	[1.20-1.38]	Affymetrix [906703]	N
816	chr22	30378702	30378703	rs5763662	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	22q12.2	MTMR3	rs5763662-T	0.04	1E-8		0.077	[NR] unit increase	NR [NR] (imputed)	N
817	chr22	30423459	30423460	rs12537	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	22q12.2	HORMAD2	rs12537-C	0.817	3E-9		1.407	[1.258-1.573]	Illumina [3792949] (imputed)	N
817	chr22	30423459	30423460	rs12537	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	22q12.2	MTMR3	rs12537-C	0.81	1E-11		1.28	[1.19-1.39]	Illumina [444882]	N
817	chr22	30486825	30486826	rs2412970	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	22q12.2	HORMAD2	rs2412970-G	0.43	3E-8		0.024	[0.016-0.032] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
817	chr22	30486825	30486826	rs2412970	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	22q12.2	HORMAD2	rs2412970-G	0.43	1E-6	(EA)	0.024	[0.014-0.034] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
817	chr22	30486825	30486826	rs2412970	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	22q12.2	LIF, MTMR3, OSM	rs2412970-G	0.457	3E-14		1.08	[1.049-1.111]	Affymetrix, Illumina [1230000] (imputed)	N
817	chr22	30493881	30493882	rs5763767	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q12.2	NR	rs5763767-A	0.4538	1E-6	(EA)	1.0639322	[1.04-1.09]	Affymetrix, Illumina [~ 9000000] (imputed)	N
817	chr22	30493881	30493882	rs5763767	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q12.2	NR	rs5763767-A	0.4538	6E-13	(EA)	1.0924478	[1.07-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
817	chr22	30494370	30494371	rs2412971	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	22q12.2	HORMAD2	rs2412971-G	0.67	6E-11	(East Asian)	1.35	[NR]	Illumina [> 1000000] (imputed)	N
817	chr22	30494370	30494371	rs2412971	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	22q12.2	HORMAD2	rs2412971-G	0.54	5E-12		1.2	[NR]	Illumina [> 1000000] (imputed)	N
817	chr22	30494370	30494371	rs2412971	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	22q12.2	LIF, HORMAD2, MTMR3, OSM	rs2412971-?	0.49 (EA)	2E-9		1.25	[NR]	Illumina [498322]	N
817	chr22	30529630	30529631	rs2412973	19915574	Imielinski M	2009-11-15	Nat Genet	Common variants at five new loci associated with early-onset inflammatory bowel disease.	Inflammatory bowel disease (early onset)	2,413 European ancestry cases, 6,158 European ancestry controls	1,013 European ancestry cases, 5,805 European ancestry controls	22q12.2	LIF, HORMAD2, MTMR3	rs2412973-?	0.46	2E-9		1.15	[1.01-1.31]	Illumina [~ 500000]	N
818	chr22	30570021	30570022	rs1003342	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q12.2	NR	rs1003342-?	NR	3E-15	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
818	chr22	30581721	30581722	rs5753037	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	22q12.2	intergenic	rs5753037-T	0.39	3E-16		1.1	[1.04-1.17]	Affymetrix, Illumina [841622] (imputed)	N
818	chr22	30592068	30592069	rs2412980	21546767	Murea M	2011-05-05	Am J Nephrol	Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.	Dialysis-related mortality	610 African American type 2 diabetes cases	NA	22q12.2	LOC729980	rs2412980-?	0.09	4E-6		1.65	[1.33-2.04]	Affymetrix [832357]	N
818	chr22	30592486	30592487	rs713875	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	22q12.2	MTMR3	rs713875-C	0.471	7E-12		1.08	[1.04-1.13]	Affymetrix, Illumina [953241] (imputed)	N
819	chr22	30681256	30681257	rs1043099	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	22q12.2	GATSL3	rs1043099-?	0.79	7E-9		1.19	[1.12-1.27]	Affymetrix, Illumina [1831729] (imputed)	N
819	chr22	30751626	30751627	rs4820834	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	22q12.2	CCDC157	rs4820834-A	0.02	9E-6	(AA)	0.71	[0.4-1.02] unit decrease	Affymetrix, Illumina [up to 2727966] (imputed)	N
821	chr22	31013295	31013296	rs2283873	22544364	Turnbull C	2012-04-29	Nat Genet	A genome-wide association study identifies susceptibility loci for Wilms tumor.	Wilms tumor	757 European ancestry cases, 1,879 European ancestry controls	1,488 European ancestry cases, 3,851 European ancestry controls	22q12.2	NR	rs2283873-A	0.02	5E-12		2.05	[1.57-2.69]	Illumina [599255]	N
822	chr22	31153275	31153276	rs9609078	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)	80 Japanese ancestry cases, 226 Japanese ancestry controls	NA	22q12.2	OSBP2	rs9609078-T	0.009	4E-6	(Allelic model)	10.89	[3.528-33.61]	Illumina [733202]	N
824	chr22	31438360	31438361	rs111383589	23568457	Wade TD	2013-04-09	Int J Eat Disord	Genetic variants associated with disordered eating.	Bulimia nervosa	151 European ancestry female cases, 2,291 European ancestry female controls	NA	22q12.2	SMTN	rs111383589-C	0.892	2E-6		0.087	[0.052-0.122] unit decrease	Illumina [6150213] (imputed)	N
826	chr22	31645758	31645759	rs2106294	21150874	McDonough CW	2010-12-08	Kidney Int	A genome-wide association study for diabetic nephropathy genes in African Americans.	Type 2 diabetes nephropathy	965 African American cases, 1,029 African American controls	709 African American cases, 690 African American controls	22q12.2	LIMK2	rs2106294-T	0.94	4E-6		1.75	[1.39-2.22]	Affymetrix [832357]	N
826	chr22	31665861	31665862	rs2413045	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q12.2	NR	rs2413045-A	NR	9E-6		1.07	[NR]	Illumina [7158791] (imputed)	N
826	chr22	31675184	31675185	rs4141404	23776197	Leandro-Garcia LJ	2013-06-17	J Med Genet	Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.	Paclitaxel-induced neuropathy	143 European ancestry individuals		22q12.2	PLA2G3, LIMK2, PISD	rs4141404-A	0.25	3E-6		2.41	[1.66-3.48]	Illumina [518577]	N
828	chr22	31863553	31863554	rs62236223	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	22q12.2	EIF4ENIF1	rs62236223-?		7E-6	(PC2)	0.1243	[NR] unit increase	Illumina [4167292] (imputed)	N
828	chr22	31951807	31951808	rs16989760	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	22q12.2	PISD, SFI1	rs16989760-?		3E-6	(PC2)	0.1297	[NR] unit increase	Illumina [4167292] (imputed)	N
829	chr22	32024979	32024980	rs11703808	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	22q12.2	PISD	rs11703808-?,rs761746-?,rs12627933-?,rs9621305-?	NR	7E-8				Illumina [795637]	N
829	chr22	32025912	32025913	rs761746	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	22q12.2	PISD	rs11703808-?,rs761746-?,rs12627933-?,rs9621305-?	NR	7E-8				Illumina [795637]	N
829	chr22	32027448	32027449	rs12627933	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	22q12.2	PISD	rs11703808-?,rs761746-?,rs12627933-?,rs9621305-?	NR	7E-8				Illumina [795637]	N
829	chr22	32049916	32049917	rs9621305	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	22q12.2	PISD	rs11703808-?,rs761746-?,rs12627933-?,rs9621305-?	NR	7E-8				Illumina [795637]	N
829	chr22	32093267	32093268	rs55728055	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	22q12.2	C22orf30	rs55728055-?		6E-6	(PC2)	0.1325	[NR] unit increase	Illumina [4167292] (imputed)	N
830	chr22	32138137	32138138	rs62238885	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	22q12.2	DEPDC5	rs62238885-?		2E-6	(PC2)	0.1541	[NR] unit increase	Illumina [4167292] (imputed)	N
830	chr22	32229648	32229649	rs5994434	22449649	Loo SK	2012-02-28	J Am Acad Child Adolesc Psychiatry	Genome-wide association study of intelligence: additive effects of novel brain expressed genes.	Intelligence	656 European ancestry individuals from ADHD families	NA	22q12.3	DEPDC5	rs5994434-?	NR	5E-7	(Average Intelligence)	6.29	[3.88-8.70] unit decrease	Illumina [795637]	N
831	chr22	32265902	32265903	rs1012068	21725309	Miki D	2011-07-03	Nat Genet	Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers.	Chronic hepatitis C infection	212 Japanese ancestry chronic hepatitis C with hepatocellular carcinoma cases, 765 Japanese ancestry chronic hepatitis C without hepatocellular carcinoma cases	710 Japanese ancestry chronic hepatitis C with hepatocellular carcinoma cases, 1,625 Japanese ancestry chronic hepatitis C without hepatocellular carcinoma cases	22q12.3	DEPDC5	rs1012068-G	0.12	1E-13		1.75	[1.51-2.03]	Illumina [467538]	N
834	chr22	32745915	32745916	rs5998432	20932310	Han MR	2010-10-08	BMC Neurol	Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study.	Cerebrospinal T-tau levels	172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls	NA	22q12.3	intergenic	rs5998432-T	NR	9E-7	(MCI)			Illumina [498205]	N
835	chr22	32783903	32783904	rs12530	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q12.3	NR	rs12530-C	0.18432396929239	3E-6	(IGP40)	0.1828	[0.11-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
835	chr22	32832873	32832874	rs2076054	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine with aura	5,118 European ancestry cases, 74,239 European ancestry controls	NA	22q12.3	intergenic	rs2076054-C	0.26	8E-6		1.12	[1.07-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
835	chr22	32867527	32867528	rs9609565	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	22q12.3	FBX07	rs9609565-G	NR	4E-10	(MCV)	0.37	[0.25-0.49] fl increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
835	chr22	32880584	32880585	rs5749446	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	22q12.3	FBXO7	rs5749446-T	0.62	3E-13	(EA, MCH)	0.007	[-0.00084-0.01484] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
837	chr22	33056340	33056341	rs4821083	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	22q12.3	SYN3	rs4821083-T	0.31	2E-7		0.03	[0.016-0.044] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
837	chr22	33056340	33056341	rs4821083	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	22q12.3	SYN3	rs4821083-T	0.84	3E-10		0.031	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
837	chr22	33056858	33056859	rs2413143	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	22q12.3	SYN3	rs2413143-T	0.159	2E-17		0.034	[0.026-0.042] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
837	chr22	33059664	33059665	rs5749482	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	22q12.3	TIMP3	rs5749482-G	0.74	2E-26		1.31	[1.26-1.36]	Affymetrix, Illumina [2442884] (imputed)	N
837	chr22	33059664	33059665	rs5749482	21998595	N'Diaye A	2011-10-06	PLoS Genet	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.	Height	20,427 African ancestry individuals	Up to 16,436 African American individuals	22q12.3	SYN3	rs5749482-C	0.44	5E-7		0.04	[0.024-0.056] unit decrease	Affymetrix, Illumina [3310998] (imputed)	N
837	chr22	33084344	33084345	rs3788483	21294900	Charles BA	2011-02-04	BMC Med Genomics	A genome-wide association study of serum uric acid in African Americans.	Uric acid levels	1,017 African American individuals	NA	22q12.3	Z73979.2	rs3788483-C	0.31	5E-6		0.164	[0.093-0.235] unit increase	Affymetrix [2366856] (imputed)	N
837	chr22	33084510	33084511	rs9621532	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	22q12.3	TIMP3	rs9621532-?	0.95	2E-15		1.59	[NR]	Affymetrix [6036699] (imputed)	N
837	chr22	33084510	33084511	rs9621532	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	22q12.3	TIMP3	rs9621532-A	0.96	4E-9		1.61	[1.37-1.89]	Affymetrix [632932]	N
837	chr22	33084510	33084511	rs9621532	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	22q12.3	TIMP3, SYN3	rs9621532-A	0.946	1E-11	(EA)	1.41	[1.27-1.57]	Illumina [~ 2500000] (imputed)	N
838	chr22	33183788	33183789	rs130555	24487271	Weizman A	2014-03-01	Inflamm Bowel Dis	Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.	Pyoderma gangrenosum in inflammatory bowel disease	92 European ancestry cases, 5,664 European ancestry controls	NA	22q12.3	TIMP3	rs130555-C	NR	6E-7		2.5	[1.70-3.50]	Illumina [2017629] (imputed)	N
841	chr22	33561745	33561746	rs743793	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue/subcutaneous adipose tissue ratio	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	22q12.3	LARGE	rs743793-T	0.54	6E-7	(women)			Affymetrix, Illumina [2500000] (imputed)	N
841	chr22	33566586	33566587	rs4821132	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	22q12.3	LARGE	rs4821132-C	0.56	6E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
842	chr22	33746525	33746526	rs2267193	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	22q12.3	LARGE	rs2267193-C	0.28	8E-6	(overall)			Affymetrix, Illumina [2500000] (imputed)	N
844	chr22	34078056	34078057	rs5754638	24962325	Kapoor M	2014-06-11	Drug Alcohol Depend	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Alcohol dependence (age at onset)	685 European ancestry cases, 1,103 European ancestry controls from 118 families	NA	22q12.3	NR	rs5754638-T	0.11	8E-6		1.44	[1.28-1.60]	Illumina [4058415] (imputed)	N
845	chr22	34182888	34182889	rs1811103	25993607	de Moor MH	2015-05-20	JAMA Psychiatry	Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.	Neuroticism	Up to 627 Cilento individuals, up to 2,296 Erasmus Rupchen Family individuals, up to 1,650 Orcadian individuals, up to 909 Vis individuals, up to 58,179 European ancestry individuals	Up to 9,786 European ancestry individuals	22q12.3	NR	rs1811103-A	NR	8E-6		0.039	[0.023-0.055] unit increase	Affymetrix, Illumina, Perlegen [6949614] (imputed)	N
846	chr22	34307850	34307851	rs16993271	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	22q12.3	LARGE	rs16993271-G	0.96	7E-6	(women)	0.176	[0.1-0.252] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
847	chr22	34386472	34386473	rs7286472	24165912	He J	2013-10-28	Circ Cardiovasc Genet	Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.	Blood pressure measurement (cold pressor test)	1,881 Han Chinese ancestry individuals	698 Han Chinese ancestry individuals	22q12.3	LARGE	rs7286472-G	0.02	3E-7	(DBP)	2.25	[1.39-3.11] mmHg decrease	Affymetrix [2216774] (imputed)	N
848	chr22	34602187	34602188	rs5754891	23870195	Wojczynski MK	2013-07-19	BMC Med Genet	Genetics of coronary artery calcification among African Americans, a meta-analysis.	Coronary artery calcification	5,823 African American individuals	9,992 European ancestry individuals	22q12.3	LARGE	rs5754891-A	0.7	7E-6	(AA)	0.16	[0.082-0.238] unit increase	Affymetrix, Illumina [up to 2727966] (imputed)	N
850	chr22	34823827	34823828	rs1034394	23377640	GENDEP Investigators	2013-02-01	Am J Psychiatry	Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.	Major depressive disorder	Up to 2,256 European ancestry cases	NA	22q12.3	ENOX1	rs1034394-G	0.3390146	2E-6	(% improvement - SSRI treated - 12 weeks)	0.2107	[0.12-0.3] unit increase	Affymetrix, Illumina [1200000] (imputed)	N
850	chr22	34859792	34859793	rs130575	18821565	Lasky-Su J	2008-12-05	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	Attention deficit hyperactivity disorder	930 European ancestry trios	NA	22q12.3	intergenic	rs130575-?	NR	5E-6	(binary)			Perlegen [429981]	N
851	chr22	34889096	34889097	rs738968	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted TNF-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	22q12.3	LOC441996	rs738968-C		8E-8	(EA)			Illumina [NR]	N
851	chr22	34941575	34941576	rs4821261	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	22q12.3	NR	rs4821261-A	0.132	9E-6	(Illicit drug use)			Illumina [527829]	N
853	chr22	35144410	35144411	rs4493363	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Chagas cardiomyopathy in Tripanosoma cruzi seropositivity	207 Brazilian ancestry cases, 306 Brazilian ancestry controls	NA	22q12.3	NR	rs4493363-?	NR	4E-6				Affymetrix [5486770] (imputed)	N
854	chr22	35371247	35371248	rs9619497	23319000	Luykx JJ	2013-01-15	Mol Psychiatry	Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.	Metabolite levels (HVA-5-HIAA Factor score)	up to 398 European ancestry individuals	NA	22q12.3	intergenic	rs9619497-A		5E-6		0.2273	unit increase	Illumina [5767231] (imputed)	N
857	chr22	35660874	35660875	rs1053593	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	22q12.3	HMGXB4	rs1053593-T	0.6444	5E-6	(EA, women)	0.0215	[0.012-0.031] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
857	chr22	35660874	35660875	rs1053593	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	22q12.3	HMGXB4	rs1053593-T	0.632	8E-6	(women)	0.0206	[0.012-0.03] unit decrease	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
857	chr22	35699581	35699582	rs138740	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	22q12.3	TOM1	rs138740-C	0.415	3E-7		1.16	[1.10-1.23]	Illumina [12100000] (imputed)	N
857	chr22	35699581	35699582	rs138740	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	22q12.3	TOM1	rs138740-C	0.415	6E-8		1.18	[1.11-1.25]	Illumina [12100000] (imputed)	N
857	chr22	35711097	35711098	rs138777	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	22q12.3	TOM1	rs138777-A	0.36	5E-8		0.021	[NR] unit increase	NR [NR] (imputed)	N
857	chr22	35754412	35754413	rs5755703	24665060	Argos M	2014-03-24	J Med Genet	Genome-wide association study of smoking behaviours among Bangladeshi adults.	Smoking cessation	366 Bangladeshi ancestry former smoker males, 87 Bangladeshi ancestry former smoker females, 1,471 Bangladeshi ancestry current smoker males, 111 Bangladeshi ancestry current smoker females	NA	22q12.3	NR	rs5755703-?		4E-6				Illumina [1211988] (imputed)	N
857	chr22	35777617	35777618	rs2071748	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	22q12.3	HMOX1	rs2071748-A	0.273	3E-6	(HRmax )	0.05	[NR] bpm increase	Illumina [899892]	N
860	chr22	36125263	36125264	rs2016586	24348519	Namjou B	2013-12-03	Front Genet	EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.	Body mass index	up to 2,860 European ancestry children	NA	22q12.3	APOL5	rs2016586-?	NR	3E-6		4.67	[NR] z score decrease	Affymetrix, Illumina [up to 583824] (imputed)	N
863	chr22	36517931	36517932	rs1476029	23648065	Low SK	2013-05-04	Cancer Sci	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)	150 Japanese ancestry cases, 166 Japanese ancestry controls	NA	22q12.3	APOL3	rs1476029-A	0.015	8E-6	(Allelic model)	6.426	[2.429-17.00]	Illumina [733202]	N
864	chr22	36616444	36616445	rs4821469	20532800	Bostrom MA	2010-06-08	Hum Genet	Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA.	End-stage renal disease (non-diabetic)	464 African American cases, 478 African American controls	336 African American cases, 363 African American controls	22q12.3	MYH9	rs4821469-?	0.056	2E-19		2.86	[2.27-3.57]	Illumina [~ 550000]	N
864	chr22	36661329	36661330	rs2239785	20668430	Genovese G	2010-07-28	Kidney Int	A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.	Glomerulosclerosis	56 African American cases, 61 European ancestry cases, 1,759 African American controls, 1,531 European ancestry controls	299 European ancestry cases	22q12.3	APOL1, MYH9	rs2239785-G	0.64	5E-13	(AA)			Illumina [up to 542539]	N
864	chr22	36679057	36679058	rs735854	20395239	Macgregor S	2010-04-15	Hum Mol Genet	Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.	Optic nerve measurement (rim area)	1,368 European ancestry twins from 666 families	848 European ancestry twins from 531 families	22q12.3	MYH9	rs735854-C	NR	9E-6		0.156	[0.072-0.240] unit decrease	Illumina [~ 2740000] (imputed)	N
867	chr22	36983427	36983428	rs2235682	25514360	Hansel NN	2014-12-16	Am J Respir Cell Mol Biol	Genome Wide Association Study Identifies Novel Loci Associated with Airway Responsiveness in COPD.	Airway responsiveness in chronic obstructive pulmonary disease	Up to 4,108 European American cases	NA	22q12.3	CACNG2	rs2235682-A	0.274	2E-6	(Dichotomous PC20)	1.28	[NR]	Illumina [546355]	N
868	chr22	37199805	37199806	rs2022068	23470693	Zeng Z	2013-03-07	J Dent Res	Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.	Pit-and-Fissure caries	996 European ancestry individuals		22q12.3	NR	rs2022068-A	0.3926	7E-6		1.1831	[NR] unit increase	Illumina [1200000] (imputed)	N
868	chr22	37208148	37208149	rs739031	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	22q12.3	PVALB	rs739031-C	0.205	2E-6	(Bone mineral content )	0.03	[NR] kg increase	Illumina [899892]	N
868	chr22	37209295	37209296	rs4820255	22509378	Burri A	2012-04-11	PLoS One	A genome-wide association study of female sexual dysfunction.	Sexual dysfunction (female)	1,104 European ancestry twins	NA	22q12.3	PVALB	rs4820255-C	NR	2E-6	(Overall FSD)	0.366	[0.22-0.51] unit decrease	Illumina [2287762] (imputed)	N
869	chr22	37258502	37258503	rs4821544	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	22q12.3	NCF4	rs4821544-C	0.29	6E-6		1.09	[1.05-1.13]	Affymetrix, Illumina [~ 2500000] (imputed)	N
869	chr22	37310045	37310046	rs2075726	22138694	Lin Z	2011-12-04	Nat Genet	A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.	Ankylosing spondylitis	1,837 Han Chinese ancestry cases, 4,231 Han Chinese ancestry controls	2,100 Han Chinese ancestry cases, 3,496 Han Chinese ancestry controls	22q12.3	NR	rs2075726-G	0.45	9E-6		1.14	[1.07-1.20]	Illumina [1356350] (imputed)	N
870	chr22	37462935	37462936	rs855791	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin saturation)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	22q12.3	TMPRSS6	rs855791-A	0.446	6E-137		0.19	[0.17-0.21] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
870	chr22	37462935	37462936	rs855791	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (transferrin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	22q12.3	TMPRSS6	rs855791-A	0.446	2E-9		0.044	[0.030-0.058] unit increase	Affymetrix, Illumina [~ 2100000] (imputed)	N
870	chr22	37462935	37462936	rs855791	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (iron levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	22q12.3	TMPRSS6	rs855791-A	0.446	1E-139		0.181	[0.17-0.19] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
870	chr22	37462935	37462936	rs855791	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (ferritin levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	22q12.3	TMPRSS6	rs855791-A	0.446	1E-14		0.055	[0.041-0.069] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
870	chr22	37462935	37462936	rs855791	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	22q12.3	TMPRSS6	rs855791-T	0.4408	7E-12		0.4566	[0.33-0.59] unit decrease	Illumina [544917]	N
870	chr22	37462935	37462936	rs855791	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular volume	7,943 African American children, 6,234 European ancestry children	NA	22q12.3	TMPRSS6	rs855791-T	0.4408	2E-9	(EA)	0.479	[0.32-0.64] unit decrease	Illumina [544917]	N
870	chr22	37462935	37462936	rs855791	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin concentration	7,943 African American children, 6,234 European ancestry children	NA	22q12.3	TMPRSS6	rs855791-T	0.4408	4E-7		0.0875	[0.054-0.121] unit decrease	Illumina [544917]	N
870	chr22	37462935	37462936	rs855791	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	22q12.3	TMPRSS6	rs855791-T	NR	2E-6	(AA)			Illumina [544917]	N
870	chr22	37462935	37462936	rs855791	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	22q12.3	TMPRSS6	rs855791-T	0.4408	7E-19		0.2326	[0.18-0.28] unit decrease	Illumina [544917]	N
870	chr22	37462935	37462936	rs855791	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Mean corpuscular hemoglobin	7,943 African American children, 6,234 European ancestry children	NA	22q12.3	TMPRSS6	rs855791-T	0.4408	5E-14	(EA)	0.2343	[0.17-0.3] unit decrease	Illumina [544917]	N
870	chr22	37462935	37462936	rs855791	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	22q12.3	TMPRSS6	rs855791-T	0.4408	3E-8	(HGB)	0.0896	[0.058-0.121] unit decrease	Illumina [544917]	N
870	chr22	37462935	37462936	rs855791	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	22q12.3	KCTD17, TMPRSS6	rs855791-G	0.57	1E-69	(EA, MCH)	0.012	[0.0042-0.0198] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
870	chr22	37462935	37462936	rs855791	21785125	Traglia M	2011-07-25	J Med Genet	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	Hepcidin levels	1,657 Val Borbera individuals	NA	22q12.3	TMPRSS6	rs855791-?	NR	9E-11	(Iron)	0.236	[0.17-0.31] ng/ml decrease	Illumina [343866]	N
870	chr22	37462935	37462936	rs855791	21785125	Traglia M	2011-07-25	J Med Genet	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	Hepcidin levels	1,657 Val Borbera individuals	NA	22q12.3	TMPRSS6	rs855791-?	NR	5E-7	(MCH)	0.187	[0.12-0.26] ng/ml decrease	Illumina [343866]	N
870	chr22	37462935	37462936	rs855791	21785125	Traglia M	2011-07-25	J Med Genet	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	Hepcidin levels	1,657 Val Borbera individuals	NA	22q12.3	TMPRSS6	rs855791-?	NR	4E-9	(Tf Sat)	0.215	[0.15-0.29] ng/ml decrease	Illumina [343866]	N
870	chr22	37462935	37462936	rs855791	21149283	Oexle K	2010-12-10	Hum Mol Genet	Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.	Iron status biomarkers	Up to 6,616 individuals	NA	22q12.3	TMPRSS6	rs855791-A	NR	2E-15	(sTfR)	0.019	[0.015-0.023] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
870	chr22	37462935	37462936	rs855791	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	22q12.3	TMPRSS6	rs855791-A	0.44	5E-9	(MCV)	0.62	[0.41-0.83] unit decrease	Illumina [489421]	N
870	chr22	37462935	37462936	rs855791	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	22q12.3	TMPRSS6	rs855791-A	0.44	1E-12	(MCH)	0.29	[0.21-0.37] unit decrease	Illumina [489421]	N
870	chr22	37462935	37462936	rs855791	20858683	Soranzo N	2010-09-21	Diabetes	Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways.	Glycated hemoglobin levels	up to 46,368 European ancestry individuals	NA	22q12.3	TMPRSS6	rs855791-A	0.42	3E-14		0.03	[0.02-0.04] % increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
870	chr22	37462935	37462936	rs855791	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular volume	14,364 Japanese ancestry individuals	NA	22q12.3	TMPRSS6	rs855791-G	0.44	1E-15		0.095	[0.071-0.119] unit increase	Illumina [561583]	N
870	chr22	37462935	37462936	rs855791	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin concentration	14,377 Japanese ancestry individuals	NA	22q12.3	TMPRSS6	rs855791-G	0.44	8E-14		0.089	[0.065-0.113] unit increase	Illumina [561583]	N
870	chr22	37462935	37462936	rs855791	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	22q12.3	TMPRSS6	rs855791-G	0.44	5E-25		0.122	[0.098-0.146] unit increase	Illumina [561583]	N
870	chr22	37462935	37462936	rs855791	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	22q12.3	TMPRSS6	rs855791-A	NR	3E-25		0.09	[0.07-0.11] g/dl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
870	chr22	37462935	37462936	rs855791	19820699	Benyamin B	2009-10-11	Nat Genet	Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.	Iron status biomarkers	4,818 European ancestry individuals	3,470 European ancestry individuals	22q12.3	TMPRSS6	rs855791-T	0.42	5E-7	(Hgb)	0.1	[0.06-0.14] s.d. decrease	Illumina, Perlegen [427037]	N
870	chr22	37462935	37462936	rs855791	19820699	Benyamin B	2009-10-11	Nat Genet	Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.	Iron status biomarkers	4,818 European ancestry individuals	3,470 European ancestry individuals	22q12.3	TMPRSS6	rs855791-T	0.42	1E-10	(MCV)	0.13	[0.09-0.17] s.d. decrease	Illumina, Perlegen [427037]	N
870	chr22	37462935	37462936	rs855791	19820698	Chambers JC	2009-10-11	Nat Genet	Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.	Hemoglobin	6,316 European ancestry individuals, 9,685 Indian Asian ancestry individuals	5,187 European ancestry individuals, 6,721 Indian Asian ancestry individuals	22q12.3	TMPRSS6	rs855791-A	0.53	2E-13		0.13	[0.09-0.17] g/dl decrease	Affymetrix, Illumina, Perlegen [NR]	N
870	chr22	37467269	37467270	rs5756504	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	22q12.3	TMPRSS6	rs5756504-T	0.45	2E-10	(Hb)	0.076	[0.052-0.1] unit increase	Illumina [561583]	N
870	chr22	37467391	37467392	rs5756506	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	22q12.3	TMPRSS6	rs5756506-C	NR	1E-9	(MCH)	0.14	[0.10-0.18] pg increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
870	chr22	37469590	37469591	rs4820268	21208937	Pichler I	2011-01-04	Hum Mol Genet	Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.	Iron status biomarkers	Up to 5,633 European ancestry individuals	Up to 3,457 European ancestry individuals	22q12.3	TMPRSS6	rs4820268-G	0.47	4E-11	(iron)	4.24	[2.99-5.49] ug/dl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
870	chr22	37469590	37469591	rs4820268	20927387	Kullo IJ	2010-09-28	PLoS One	A genome-wide association study of red blood cell traits using the electronic medical record.	Red blood cell traits	3,012 European ancestry individuals	NA	22q12.3	TMPRSS6	rs4820268-G	0.47	1E-12	(MCHC)	0.09	[0.07-0.11] unit decrease	Illumina [489421]	N
870	chr22	37469590	37469591	rs4820268	19880490	Tanaka T	2009-10-30	Blood	A genome-wide association analysis of serum iron concentrations.	Iron levels	1,919 European ancestry individuals	569 female indiviuals	22q12.3	TMPRSS6	rs4820268-A	0.54	5E-9		4.39	[2.90-5.88] ug/dL increase	Illumina [475322]	N
870	chr22	37469590	37469591	rs4820268	19853236	Ferreira MA	2009-10-22	Am J Hum Genet	Sequence variants in three loci influence monocyte counts and erythrocyte volume.	Hematology traits	2,538 European ancestry individuals, 3,477 individuals	1,543 individuals	22q12.3	TMPRSS6	rs4820268-A	0.53	4E-12	(MCV)	0.13	[0.09-0.17] s.d. increase	Illumina, Perlegen [~ 2500000] (imputed)	N
870	chr22	37469590	37469591	rs4820268	19853236	Ferreira MA	2009-10-22	Am J Hum Genet	Sequence variants in three loci influence monocyte counts and erythrocyte volume.	Hematology traits	2,538 European ancestry individuals, 3,477 individuals	1,543 individuals	22q12.3	TMPRSS6	rs4820268-A	0.53	3E-10	(MCH)	0.15	[0.11-0.19] s.d. increase	Illumina, Perlegen [~ 2500000] (imputed)	N
870	chr22	37469590	37469591	rs4820268	19084217	Benyamin B	2008-12-17	Am J Hum Genet	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Iron status biomarkers	459 European ancestry twin pairs	NA	22q12.3	TMPRSS6	rs4820268-?	NR	6E-6	(serum iron)			Illumina [315887]	N
870	chr22	37470223	37470224	rs2413450	23935956	Pistis G	2013-07-31	PLoS One	Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.	Red blood cell traits	1,664 Val Borbera individuals	619 Friuli Venezia Giulia individuals, 16,145 European ancestry individuals	22q12.3	TMPRSS6	rs2413450-T	0.46	9E-6	(MCV)	0.0077	[0.0044-0.0110] unit decrease	Illumina [~ 2500000] (imputed)	N
870	chr22	37470223	37470224	rs2413450	23935956	Pistis G	2013-07-31	PLoS One	Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.	Red blood cell traits	1,664 Val Borbera individuals	619 Friuli Venezia Giulia individuals, 16,145 European ancestry individuals	22q12.3	TMPRSS6	rs2413450-T	0.46	4E-7	(MCH)	0.0099	[0.0060-0.0138] unit decrease	Illumina [~ 2500000] (imputed)	N
870	chr22	37470223	37470224	rs2413450	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	22q12.3	TMPRSS6	rs2413450-T	0.59	5E-6	(Ht)	0.204	[0.116-0.291] unit decrease	Illumina [561583]	N
870	chr22	37470223	37470224	rs2413450	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	22q12.3	TMPRSS6	rs2413450-T	NR	3E-41		0.01	[0.004-0.006] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
870	chr22	37470223	37470224	rs2413450	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	22q12.3	TMPRSS6	rs2413450-T	NR	9E-34		0.01	[0.0005-0.007] pg decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
870	chr22	37470223	37470224	rs2413450	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hematocrit	24,167 European ancestry individuals	9,456 European ancestry individuals	22q12.3	TMPRSS6	rs2413450-T	NR	2E-13		0.17	[0.13-0.22] % decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
871	chr22	37505551	37505552	rs228916	25352340	Benyamin B	2014-10-29	Nat Commun	Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Iron status biomarkers (iron levels)	23,986 European ancestry individuals	Up to 24,986 European ancestry individuals	22q12.3	TMPRSS6	rs228916-T	0.875	3E-8		0.086	[0.055-0.117] unit decrease	Affymetrix, Illumina [~ 2100000] (imputed)	N
871	chr22	37534033	37534034	rs2284033	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	22q12.3	IL2RB	rs2284033-G	0.56	1E-8		1.12	[1.08-1.16]	Illumina [582892]	N
871	chr22	37544485	37544486	rs3218255	24057671	Chimusa ER	2013-09-18	Hum Mol Genet	Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.	Tuberculosis	642 South African coloured cases, 91 South African coloured controls	NA	22q12.3	IL2RB	rs3218255-G	0.69	2E-7		4.0	[NR]	Affymetrix [up to 4467279] (imputed)	N
871	chr22	37545504	37545505	rs3218251	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	22q12.3	IL2RB	rs3218251-A	0.27	6E-6	(EA)	1.08	[1.04-1.11]	Affymetrix, Illumina [up to 9739303] (imputed)	N
871	chr22	37551606	37551607	rs743777	21829393	Plagnol V	2011-08-04	PLoS Genet	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Type 1 diabetes autoantibodies	12,501 European ancestry cases	3,598 sibling cases	22q12.3	IL2RB	rs743777-G	NR	2E-6	(T1D)	1.1	[NR]	Affymetrix, Illumina [NR]	N
871	chr22	37551606	37551607	rs743777	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	22q12.3	NR	rs743777-G	0.29	1E-6		1.09	[0.97-1.24]	Affymetrix [469557]	N
871	chr22	37581421	37581422	rs229526	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	22q12.3	C1QTNF6	rs229526-C	0.221	9E-6		1.216	[1.12-1.32]	Illumina [870065]	N
871	chr22	37581484	37581485	rs229527	23612905	Zhao SX	2013-04-29	Hum Mol Genet	Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.	Graves' disease	1,442 Han Chinese ancestry cases, 1,468 Han Chinese ancestry controls	7,891 Han Chinese ancestry cases, 8,351 Han Chinese ancestry controls	22q12.3	C1QTNF6, RAC2	rs229527-?	0.71	5E-20		1.23	[1.19-1.3]	Illumina [8019905] (imputed)	N
871	chr22	37581484	37581485	rs229527	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	22q12.3	C1QTNF6	rs229527-T	0.419	2E-16		1.38	[1.28-1.50]	Illumina [520460]	N
871	chr22	37586791	37586792	rs2160908	24324551	Deng X	2013-11-20	PLoS One	Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.	Parasitemia in Tripanosoma cruzi seropositivity	580 Brazilian ancestry individuals	NA	22q12.3	NR	rs2160908-?	NR	5E-6				Affymetrix [5486770] (imputed)	N
871	chr22	37591317	37591318	rs229541	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	22q12.3	C1QTNF6	rs229541-?	NR	2E-7				Affymetrix, Illumina [841622] (imputed)	N
871	chr22	37591317	37591318	rs229541	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	22q12.3	C1QTNF6	rs229541-T	0.43	2E-8		1.11	[1.05-1.16]	Affymetrix [up to 335565]	N
871	chr22	37613308	37613309	rs13053175	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	22q13.1	RAC2	rs13053175-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
872	chr22	37679486	37679487	rs10084630	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	22q13.1	C1QTNF6, RAC2, CYTH4, ELFN2	rs10084630-G	NR	9E-6	(ParVAS)	1.13	[0.64-1.62] unit increase	Illumina [586062]	N
874	chr22	37918471	37918472	rs6000762	21307088	Khor CC	2011-02-09	Hum Mol Genet	Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.	Optic disc area	2,132 Indian ancestry individuals, 2,313 Malay ancestry individuals	9,326 European ancestry individuals	22q13.1	CARD10	rs6000762-C	0.3	1E-8	(Asian)	0.059	[0.039-0.079] mm2 increase	Illumina [551808]	N
874	chr22	37919266	37919267	rs9607469	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	22q13.1	CARD10	rs9607469-A	0.23	7E-9	(Asian)	0.053	[0.035-0.071] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
874	chr22	37919266	37919267	rs9607469	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	22q13.1	CARD10	rs9607469-A	0.15	2E-6	(EA)	0.034	[0.020-0.048] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
874	chr22	37919266	37919267	rs9607469	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic disc area	15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals	NA	22q13.1	CARD10	rs9607469-A	0.15	2E-13		0.041	[0.029-0.053] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
874	chr22	37919266	37919267	rs9607469	21307088	Khor CC	2011-02-09	Hum Mol Genet	Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.	Optic disc area	2,132 Indian ancestry individuals, 2,313 Malay ancestry individuals	9,326 European ancestry individuals	22q13.1	CARD10	rs9607469-A	0.14	3E-12		0.051	[0.036-0.066] mm2 increase	Illumina [551808]	N
874	chr22	37928185	37928186	rs6000782	24768677	de Boer YS	2014-04-23	Gastroenterology	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	Autoimmune hepatitis type-1	649 European ancestry cases, 13,436 European ancestry controls	451 European ancestry cases, 4,103 European ancestry controls	22q13.1	CARD10	rs6000782-?	0.04	3E-6		1.7	[1.40-2.10]	Illumina [254006]	N
874	chr22	37982011	37982012	rs12157904	22041458	Clark SL	2011-11-01	Psychol Med	Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.	Response to anti-depressant treatment in major depressive disorder	1,151 European ancestry cases, 288 African American cases	NA	22q13.1	LGALS2	rs12157904-G	0.07	2E-6	(Citalopram+Buspirone, Dizziness)			Affymetrix [421789]	N
875	chr22	38071042	38071043	rs4820294	21897333	Irvin MR	2011-12-01	Pharmacogenet Genomics	Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.	Fat distribution (HIV)	192 European ancestry male cases	NA	22q13.1	PDXP, LGALS1	rs4820294-A	0.35	5E-6	(multivariate)			Illumina [319818]	N
876	chr22	38175476	38175477	rs5756813	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	22q13.1	TRIOBP	rs5756813-G	0.39	5E-6	(EA)	0.012	[0.0061-0.0179] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
876	chr22	38175476	38175477	rs5756813	25631615	Springelkamp H	2015-01-28	Genet Epidemiol	Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.	Optic cup area	15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals	NA	22q13.1	TRIOBP	rs5756813-G	0.39	1E-9		0.014	[0.010-0.018] unit increase	Affymetrix, Illumina [2500000] (imputed)	N
876	chr22	38175476	38175477	rs5756813	25241763	Springelkamp H	2014-09-22	Nat Commun	Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.	Vertical cup-disc ratio	18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals	2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals	22q13.1	CARD10	rs5756813-G	NR	8E-9		0.008	[0.0060-0.0100] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
878	chr22	38476275	38476276	rs8135665	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	22q13.1	SLC16A8	rs8135665-T	0.21	2E-11		1.15	[1.11-1.19]	Affymetrix, Illumina [2442884] (imputed)	N
879	chr22	38544297	38544298	rs2284063	19578365	Falchi M	2009-07-05	Nat Genet	Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.	Cutaneous nevi	1,524 European ancestry twins	4,107 European ancestry individuals, 3,131 European ancestry cases, 4,276 European ancestry controls	22q13.1	PLA2G6	rs2284063-G	0.35	3E-8		0.08	[-0.002-0.16] log nevus count decrease	Illumina [297108]	N
879	chr22	38544297	38544298	rs2284063	19578364	Bishop DT	2009-07-05	Nat Genet	Genome-wide association study identifies three loci associated with melanoma risk.	Melanoma	1,539 European ancestry cases, 3,917 European ancestry controls	2,312 European ancestry cases, 1,867 European ancestry controls	22q13.1	intergenic	rs2284063-?	0.37	2E-9		1.2	[1.14-1.28]	Illumina [~ 317000]	N
879	chr22	38545618	38545619	rs6001027	21983787	Barrett JH	2011-10-09	Nat Genet	Genome-wide association study identifies three new melanoma susceptibility loci.	Melanoma	2,804 European ancestry cases, 7,618 European ancestry controls	5,551 European ancestry cases, 7,449 European ancestry controls	22q13.1	PLA2G6	rs6001027-?	0.65	2E-6		1.18	[1.09-1.27]	Illumina [594997]	N
879	chr22	38546032	38546033	rs5756931	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Triglycerides	94,595 European ancestry individuals	93,982 European ancestry individuals	22q13.1	PLA2G6	rs5756931-C	0.40	3E-8		0.02	[NR] mg/dL decrease	NR [NR] (imputed)	N
879	chr22	38546032	38546033	rs5756931	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	22q13.1	PLA2G6	rs5756931-C	0.4	4E-8		1.54	[0.8-2.28] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
879	chr22	38569005	38569006	rs738322	21478494	Nan H	2011-04-09	Hum Mol Genet	Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.	Cutaneous nevi	9,136 European ancestry individuals	3,581 European ancestry individuals	22q13.1	PLA2G6	rs738322-G	0.46	1E-6		0.06	[0.04-0.08] unit decrease	Affymetrix, Illumina [2318094] (imputed)	N
879	chr22	38628305	38628306	rs7289126	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Percent mammographic density	7,916 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	22q13.1	TMEM184B, PLA2G6	rs7289126-A	0.4	5E-9		0.1	[0.061-0.139] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
879	chr22	38628305	38628306	rs7289126	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	22q13.1	TMEM184B, PLA2G6	rs7289126-A	0.4	3E-8		0.11	[0.071-0.149] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
881	chr22	38832111	38832112	rs2267386	24800985	Agopian AJ	2014-05-06	PLoS One	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.	Conotruncal heart defects	537 European ancestry case-parent trios, 213 case-parent trios	348 European ancestry case-parent trios, 10 case-parent trios	22q13.1	KCNJ4	rs2267386-?	0.024	1E-6	(EA, Inherited)	3.12	[1.93-5.05]	Illumina [2421290] (imputed)	N
883	chr22	39178374	39178375	rs738144	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	NR	rs738144-G	0.204838376727597	7E-6	(IGP75)	0.1878	[0.11-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
884	chr22	39245617	39245618	rs13053505	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	22q13.1	NPTXR, CBX7	rs13053505-G	0.8	3E-8		0.04	[0.026-0.054] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
885	chr22	39332622	39332623	rs1014971	24163127	Figueroa JD	2013-10-24	Hum Mol Genet	Genome-wide association study identifies multiple loci associated with bladder cancer risk.	Bladder cancer	up to 2,305 European ancestry cases, up to 3,901 European ancestry controls	up to 13,298 cases, up to 54,535 controls	22q13.1	CBX6, APOBEC3A	rs1014971-T	0.62	1E-11		1.13	[1.09-1.17]	Illumina [462190]	N
885	chr22	39332622	39332623	rs1014971	20972438	Rothman N	2010-10-24	Nat Genet	A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.	Bladder cancer	3,532 European ancestry cases, 5,120 European ancestry controls	8,381 cases, 48,275 controls	22q13.1	CBX6, APOBEC3A	rs1014971-?	0.62	8E-12		1.18	[1.10-1.18]	Illumina [589299]	N
886	chr22	39519195	39519196	rs139371	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (hyperdiploidy)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		22q13.1	NR	rs139371-A	0.46	2E-9	(HD vs. controls)	1.37	[1.24-1.52]	Illumina [414804]	N
886	chr22	39519195	39519196	rs139371	23502783	Weinhold N	2013-03-17	Nat Genet	The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.	Multiple myeloma (IgH translocation)	up to 1,660 European ancestry cases, 7,306 European ancestry controls		22q13.1	NR	rs139371-G	0.46	9E-6	(non t11;14 and t4;14 IgH translocations vs. controls)	1.5	[1.26-1.80]	Illumina [414804] (imputed)	N
886	chr22	39542291	39542292	rs877529	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	22q13.1	CBX7	rs877529-A	0.51	8E-16		1.228	[1.17-1.29]	Illumina [414804]	N
886	chr22	39563912	39563912	rs34101942	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	22q13.1	CBX7	rs34101942-?	NR	9E-6		0.15	[NR] unit increase	Illumina [12100000] (imputed)	N
886	chr22	39563912	39563912	rs34101942	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	22q13.1	CBX7	rs34101942-?	NR	3E-7		0.18	[NR] unit increase	Illumina [12100000] (imputed)	N
887	chr22	39659772	39659773	rs2413583	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q13.1	NR	rs2413583-G	0.83	7E-15	(EA)	1.1438878		Affymetrix, Illumina [~ 9000000] (imputed)	N
887	chr22	39659772	39659773	rs2413583	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q13.1	NR	rs2413583-A	0.83	8E-34	(EA)	1.2341797		Affymetrix, Illumina [~ 9000000] (imputed)	N
887	chr22	39659772	39659773	rs2413583	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Inflammatory bowel disease	12,924 European ancestry cases, 21,442 European ancestry controls	25,683 European ancestry cases, 17,015 European ancestry controls	22q13.1	ATF4, TAB1, APOBEC3G	rs2413583-C	0.833	4E-33		1.209	[1.163-1.257]	Affymetrix, Illumina [1230000] (imputed)	N
887	chr22	39659772	39659773	rs2413583	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	22q13.1	MAP3K7IP1	rs2413583-C	0.83	1E-26		1.23	[1.17-1.29]	Affymetrix, Illumina [953241] (imputed)	N
887	chr22	39660828	39660829	rs2143178	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q13.1	NR	rs2143178-?	NR	5E-38	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
887	chr22	39670850	39670851	rs968451	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	22q13.1	MAP3K7IP1	rs968451-T	0.19	1E-9		1.27	[1.18-1.38]	Illumina [507467]	N
887	chr22	39687483	39687484	rs54211	21658281	Aouizerat BE	2011-06-10	BMC Cardiovasc Disord	GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.	Sudden cardiac arrest	88 European ancestry cases, 517 European ancestry controls	NA	22q13.1	intergenic	rs54211-?	0.13	8E-7	(Recessive)	1.57	[1.32-1.88]	Affymetrix [319222]	N
888	chr22	39721744	39721745	rs12627970	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q13.1	NR	rs12627970-G	0.2081	2E-18	(EA)	1.1155151	[1.09-1.14]	Affymetrix, Illumina [~ 9000000] (imputed)	N
888	chr22	39739637	39739638	rs137686	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	NR	rs137686-C	0.24173856626506	1E-11	(IGP39)	0.2524	[0.18-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
888	chr22	39747670	39747671	rs909685	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	22q13.1	SYNGR1	rs909685-A	0.85	2E-7	(East Asian)	1.23	[1.14-1.33]	Affymetrix, Illumina [up to 9739303] (imputed)	N
888	chr22	39747670	39747671	rs909685	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	22q13.1	SYNGR1	rs909685-A	0.45	1E-16		1.13	[1.10-1.16]	Affymetrix, Illumina [up to 9739303] (imputed)	N
888	chr22	39747670	39747671	rs909685	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	22q13.1	SYNGR1	rs909685-A	0.3	6E-12	(EA)	1.11	[1.08-1.15]	Affymetrix, Illumina [up to 9739303] (imputed)	N
888	chr22	39748853	39748854	rs137699	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	NR	rs137699-G	0.690710359535507	8E-6	(IGP18)	0.1564	[0.088-0.225] unit decrease	Illumina [~ 2500000] (imputed)	N
888	chr22	39835586	39835587	rs4821897	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	NR	rs4821897-G	0.707166482866044	4E-18	(IGP67)	0.2976	[0.23-0.36] unit decrease	Illumina [~ 2500000] (imputed)	N
888	chr22	39835586	39835587	rs4821897	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	NR	rs4821897-G	0.707128727839644	3E-12	(IGP63)	0.2388	[0.17-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
888	chr22	39840129	39840130	rs9611177	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.1	NR	rs9611177-C	NR	6E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
888	chr22	39841699	39841700	rs5757676	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	NR	rs5757676-C	0.775682419642857	1E-7	(IGP36)	0.1968	[0.12-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	NR	rs909674-C	0.299013119715176	4E-16	(IGP70)	0.2754	[0.21-0.34] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299323467231387	9E-6	(IGP69)	0.151	[0.084-0.218] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299146468388246	2E-10	(IGP62)	0.2148	[0.15-0.28] unit decrease	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299146275601069	2E-15	(IGP72)	0.2695	[0.2-0.34] unit decrease	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299100489968792	2E-6	(IGP30)	0.1606	[0.095-0.227] unit decrease	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299056983073497	3E-9	(IGP9)	0.2011	[0.13-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299056983073497	3E-9	(IGP49)	0.2003	[0.13-0.27] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299013119715176	6E-16	(IGP71)	0.2737	[0.21-0.34] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299013119715176	3E-8	(IGP64)	0.1872	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299013119715176	3E-13	(IGP45)	0.2468	[0.18-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299013119715176	1E-24	(IGP40)	0.3447	[0.28-0.41] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.299013119715176	1E-16	(IGP66)	0.281	[0.21-0.35] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.298923976402493	6E-10	(IGP68)	0.2094	[0.14-0.28] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.298923567230632	5E-10	(IGP22)	0.2099	[0.14-0.28] unit decrease	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.298923567230632	1E-10	(IGP5)	0.2178	[0.15-0.28] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.298878222915738	2E-10	(IGP34)	0.2136	[0.15-0.28] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.298476014725569	9E-24	(IGP39)	0.3388	[0.27-0.4] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	1,848 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.29096	9E-6	(IgG1G2N)	0.0651	[0.036-0.094] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	1,848 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.29096	3E-8	(IgG1G0N)	0.083	[0.054-0.112] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39859168	39859169	rs909674	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	1,848 European ancestry individuals	NA	22q13.1	MGAT3, TAB1, CACNA1I, SYNGR1	rs909674-C	0.29096	2E-10	(IgG1G1N)	0.0721	[0.050-0.094] unit increase	Illumina [~ 2500000] (imputed)	N
889	chr22	39942233	39942234	rs5757717	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.1	NR	rs5757717-C	NR	6E-10		1.0752687	[NR]	Illumina [7158791] (imputed)	N
889	chr22	39955872	39955873	rs9611198	22883433	Irish Schizophrenia Genomics Consortium & the Wellcome Trust Case Control Consortium 2	2012-08-07	Biol Psychiatry	Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.	Schizophrenia	1,606 European ancestry cases, 1,794 European ancestry controls	13,195 European ancestry cases, 31,021 European ancestry controls	22q13.1	CACNA1I	rs9611198-C	0.458	8E-6		1.22	[1.11-1.34]	Affymetrix [6212339]	N
889	chr22	39972161	39972162	rs3788556	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.1	NR	rs3788556-C	0.56038034270415	5E-8	(IGP39)	0.1799	[0.12-0.24] unit increase	Illumina [~ 2500000] (imputed)	N
890	chr22	40006034	40006035	rs3788567	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.1	NR	rs3788567-T	NR	2E-11		1.08	[NR]	Illumina [7158791] (imputed)	N
890	chr22	40075399	40075400	rs2294369	24709693	Cobb J	2014-04-08	Pharmacogenomics J	Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.	Response to methotrexate in juvenile idiopathic arthritis	694 European ancestry child cases	NA	22q13.1	CACNA1I, APOBEC3B, APOBEC3C, SYNGR1	rs2294369-A	NR	9E-8	(AJC)	2.77	[1.77-3.77] unit increase	Illumina [586062]	N
893	chr22	40436972	40436973	rs11704416	23065704	Amin Al Olama A	2012-10-12	Hum Mol Genet	A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.	Prostate cancer	5,132 European ancestry non-aggressive cases, 5,953 European ancestry aggressive cases, 11,463 European ancestry controls	22,387 European ancestry non-aggressive cases, 2,008 European ancestry aggressive cases, up to 24,726 European ancestry controls	22q13.1	TNRC6B	rs11704416-C	NR	4E-7	(All)	1.06	[1.02-1.10]	Illumina [~ 2600000] (imputed)	N
893	chr22	40436972	40436973	rs11704416	23065704	Amin Al Olama A	2012-10-12	Hum Mol Genet	A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.	Prostate cancer	5,132 European ancestry non-aggressive cases, 5,953 European ancestry aggressive cases, 11,463 European ancestry controls	22,387 European ancestry non-aggressive cases, 2,008 European ancestry aggressive cases, up to 24,726 European ancestry controls	22q13.1	TNRC6B	rs11704416-C	NR	4E-6	(Aggressive)	1.05	[0.96-1.15]	Illumina [~ 2600000] (imputed)	N
893	chr22	40452118	40452119	rs9623117	19117981	Sun J	2009-01-01	Cancer Res	Sequence variants at 22q13 are associated with prostate cancer risk.	Prostate cancer	1,235 European ancestry aggressive cases, 1,599 European ancestry controls	1,215 European ancestry aggressive cases, 2,213 European ancestry non-aggressive cases, 1,208 European ancestry controls, 1,034 aggressive cases, 921 non-aggressive cases, 2,231 controls	22q13.1	TNRC6B	rs9623117-C	0.21	5E-7		1.18	[1.11-1.26]	Affymetrix, Illumina [~ 2000000] (imputed)	N
894	chr22	40592213	40592214	rs6001832	25637336	Chan JP	2015-02-01	Age (Dordr)	Genetics of hand grip strength in mid to late life.	Hand grip strength	2,088 European ancestry individuals	541 European ancestry individuals	22q13.1	TNRC6B	rs6001832-G	NR	5E-6	(Model 1 - age, sex)	1.089	[0.66-1.51] unit decrease	Affymetrix [at least 549281] (imputed)	N
894	chr22	40604944	40604945	rs4820408	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	22q13.1	TNRC6B	rs4820408-T	0.391	7E-6	(EA, men)	0.019	[0.011-0.027] kg/m2 increase	Affymetrix, Illumina [2550021]	N
894	chr22	40604944	40604945	rs4820408	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	22q13.1	TNRC6B	rs4820408-T	0.389	4E-6	(EA)	0.015	[0.0087-0.0213] kg/m2 increase	Affymetrix, Illumina [2550021]	N
894	chr22	40604944	40604945	rs4820408	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	22q13.1	TNRC6B	rs4820408-T	0.386	2E-6		0.015	[0.009-0.0212] kg/m2 increase	Affymetrix, Illumina [2550021]	N
895	chr22	40652872	40652873	rs12484776	21460842	Cha PC	2011-04-03	Nat Genet	A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.	Uterine fibroids	1,607 Japanese ancestry cases, 1,428 Japanese ancestry controls	3,439 Japanese ancestry cases, 3,244 Japanese ancestry controls	22q13.1	TNRC6B	rs12484776-G	0.36	3E-12		1.23	[1.11-1.37]	Illumina [457044]	N
895	chr22	40654275	40654276	rs12628051	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	22q13.1	TNRC6B	rs12628051-?	NR	3E-6	(rs7127900)	1.3	[1.17-1.46]	Affymetrix, Illumina [1117531] (imputed)	N
895	chr22	40675090	40675091	rs4821941	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	22q13.1	TNRC6B	rs4821941-?	NR	4E-6	(rs7127900)	1.3	[1.16-1.46]	Affymetrix, Illumina [1117531] (imputed)	N
895	chr22	40697580	40697581	rs139909	19570815	Estrada K	2009-07-01	Hum Mol Genet	A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.	Height	10,074 European ancestry individuals	6,912 European ancestry individuals	22q13.1	TNRC6B, ADSL	rs139909-T	0.68	2E-7		0.25	[0.03-0.47] cm increase	Affymetrix, Illumina, Perlegen [2228850] (imputed)	N
896	chr22	40778230	40778231	rs17001868	25342443	Lindstrom S	2014-10-24	Nat Commun	Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.	Mammographic density (dense area)	7,600 European ancestry individuals	343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals	22q13.1	SGSM3, MKL1, TNRC6B	rs17001868-A	0.92	2E-13		0.18	[0.12-0.24] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
896	chr22	40820150	40820151	rs5757949	19570815	Estrada K	2009-07-01	Hum Mol Genet	A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.	Height	10,074 European ancestry individuals	6,912 European ancestry individuals	22q13.1	SGSM3, MKL1	rs5757949-T	NR	4E-6				Affymetrix, Illumina, Perlegen [2228850] (imputed)	N
896	chr22	40876233	40876234	rs6001930	23535733	Garcia-Closas M	2013-04-01	Nat Genet	Genome-wide association studies identify four ER negative-specific breast cancer risk loci.	Breast cancer	4,193 European ancestry cases, 35,194 European ancestry controls	6,514 European ancestry cases, 41,455 European ancestry controls	22q13.1	MKL1	rs6001930-C	0.107	2E-6		1.14	[1.08-1.20]	Illumina [NR]	N
896	chr22	40876233	40876234	rs6001930	23535729	Michailidou K	2013-04-01	Nat Genet	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Breast cancer	10,052 European ancestry cases, 12,575 European ancestry controls	45,290 European ancestry cases, 41,880 European ancestry controls	22q13.1	MKL1	rs6001930-C	0.11	9E-19		1.12	[1.09-1.16]	Affymetrix, Illumina [~ 2600000] (imputed)	N
897	chr22	40996366	40996367	rs17002034	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	22q13.2	NR	rs17002034-?	NR	4E-6		1.3976	[NR]	Affymetrix [722112]	N
898	chr22	41027818	41027819	rs133047	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.2	NR	rs133047-T	NR	7E-10		1.12	[NR]	Illumina [7158791] (imputed)	N
898	chr22	41042090	41042091	rs12159200	22310353	Man M	2012-02-07	Pharmacogenomics J	Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.	Treatment response for severe sepsis	1,446 individuals	NA	22q13.2	MKL1	rs12159200-?	NR	6E-7	(AA vs. not AA)			Illumina [856627]	N
898	chr22	41124165	41124166	rs200610334	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	22q13.2	NR	rs200610334-AT	NR	8E-6		1.34	[NR]	Illumina [up to 9792010] (imputed)	N
900	chr22	41389784	41389785	rs144960271	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.2	NR	rs144960271-T	NR	1E-6		1.14	[NR]	Illumina [7158791] (imputed)	N
900	chr22	41396352	41396353	rs7287939	25085501	Bunyavanich S	2014-08-02	BMC Med Genomics	Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.	Allergic rhinitis	872 European ancestry cases, 1,193 Latino cases, 647 African American/Afro-Caribbean cases, 1,162 European ancestry controls, 1,133 Latino controls, 626 African American/Afro-Caribbean controls	NA	22q13.2	RBX1	rs7287939-?	NR	4E-7	(Latino)	2.19	[1.89-2.50]	Affymetrix, Illumina [NR] (imputed)	N
901	chr22	41431341	41431342	rs4820425	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	22q13.2	RBX1, EP300	rs4820425-A	0.24	3E-8		1.27	[1.17-1.38]	Illumina [508934]	N
902	chr22	41587555	41587556	rs9607782	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.2	NR	rs9607782-A	NR	2E-11		1.09	[NR]	Illumina [7158791] (imputed)	N
902	chr22	41587555	41587556	rs9607782	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	22q13.2	CHADL, EP300, L3MBTL2, RANGAP1	rs9607782-A	0.232	2E-11		1.087	[1.060-1.113]	Affymetrix, Illumina [9005918] (imputed)	N
902	chr22	41661153	41661154	rs2235852	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	22q13.2	intergenic	rs2235852-T	0.3267	4E-6		0.0577	[0.033-0.082] unit increase	Illumina [2400000] (imputed)	N
903	chr22	41694387	41694388	rs9607791	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.2	NR	rs9607791-A	NR	7E-7		1.17	[NR]	Illumina [7158791] (imputed)	N
903	chr22	41757646	41757647	rs4822024	22561518	Jin Y	2012-05-06	Nat Genet	Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.	Vitiligo	418 European ancestry cases, 2,810 European ancestry controls	1,377 European ancestry cases, 1,284 European ancestry controls	22q13.2	TOB2	rs4822024-G	0.79	7E-10		1.28	[NR]	Illumina [495821]	N
904	chr22	41867376	41867377	rs727563	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Inflammatory bowel disease	12,882 European ancestry cases, 21,770 European ancestry controls	25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q13.2	TEF, NHP2L1, PMM1, L3MBTL2, CHADL	rs727563-G	0.2027	3E-6	(EA)	1.0581502	[1.03-1.08]	Affymetrix, Illumina [~ 9000000] (imputed)	N
904	chr22	41867376	41867377	rs727563	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	22q13.2	TEF, NHP2L1, PMM1, L3MBTL2, CHADL	rs727563-G	0.2027	2E-10	(EA)	1.0965022	[1.07-1.12]	Affymetrix, Illumina [~ 9000000] (imputed)	N
907	chr22	42218855	42218856	rs7364180	21123754	Kim S	2010-12-01	Neurology	Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.	Alzheimer's disease biomarkers	96 European ancestry Alzheimer disease cases, 176 European ancestry individuals with mild cognitive impairment, 102 European ancestry controls	NA	22q13.2	CCDC134	rs7364180-?	NR	1E-6	(AB1-42)			Illumina [322557]	N
907	chr22	42336171	42336172	rs5758511	23202124	Horikoshi M	2012-12-02	Nat Genet	New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.	Birth weight	Up to 26,836 European ancestry individuals	Up to 42,519 European ancestry individuals	22q13.2	CENPM	rs5758511-A	0.27	3E-6		0.027	[0.015-0.039] gram decrease	Affymetrix, Illumina [~ 2700000] (imputed)	N
908	chr22	42340843	42340844	rs1023500	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.2	NR	rs1023500-T	NR	3E-8		1.08	[NR]	Illumina [7158791] (imputed)	N
908	chr22	42392810	42392811	rs1062753	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	22q13.2	SEPT, LOC100132273, LOC388906, CYP2D6	rs1058172-?	0.155	2E-16	(S-DDCT concentration)			Illumina [7537437] (imputed)	N
909	chr22	42523527	42523528	rs1058172	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	22q13.2	SEPT, LOC100132273, LOC388906, CYP2D6	rs1058172-?	0.155	8E-16	(S-DDCT/S-DCT ratio)			Illumina [7537437] (imputed)	N
909	chr22	42526693	42526694	rs1065852	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	22q13.2	CYP2D6*4, CYP2D6*10, CYP2D6*14	rs1065852-?	0.215	8E-16	(S-DDCT/S-DCT ratio)			Illumina [7537437] (imputed)	N
909	chr22	42526693	42526694	rs1065852	24528284	Ji Y	2014-08-01	Br J Clin Pharmacol	Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	300 European ancestry Escitalpram treated individuals, 130 European ancestry Citalopram treated individuals	NA	22q13.2	CYP2D6*4, CYP2D6*10, CYP2D6*14	rs1065852-?	0.215	2E-16	(S-DDCT concentration)			Illumina [7537437] (imputed)	N
910	chr22	42603813	42603814	rs6002655	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.2	NR	rs6002655-T	NR	6E-10		1.07	[NR]	Illumina [7158791] (imputed)	N
910	chr22	42603813	42603814	rs6002655	25056061	Ripke S	2014-07-22	Nature	Biological insights from 108 schizophrenia-associated genetic loci.	Schizophrenia	32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls	1,513 European ancestry cases, 66,236 European ancestry controls	22q13.2	CENPM, CYP2D6, FAM109B, NAGA, NDUFA6, SEPT3, SHISA8, SMDT1, SREBF2, TCF20, TNFRSF13C, WBP2NL	rs6002655-T	0.443	2E-9		1.066	[1.044-1.088]	Affymetrix, Illumina [9005918] (imputed)	N
910	chr22	42622002	42622003	rs5758659	25644384	Davies G	2015-02-03	Mol Psychiatry	Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).	Cognitive function	51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals	NA	22q13.2	TCF20	rs5758659-?	NR	1E-6		0.027	[0.016-0.038] unit decrease	Affymetrix, Illumina [2478500] (imputed)	N
910	chr22	42652715	42652716	rs134871	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	22q13.2	LOC388906	rs134871-C	0.497	7E-6		0.013	[0.0075-0.0189] kg/m2 increase	Affymetrix, Illumina [2550021]	N
910	chr22	42670964	42670965	rs134882	20889312	Wang KS	2010-10-01	Schizophr Res	A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.	Bipolar disorder and schizophrenia	651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls	NA	22q13.2	NR	rs134882-?	NR	7E-6		1.2196	[NR]	Affymetrix [722112]	N
916	chr22	43435667	43435668	rs2072883	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.2	NR	rs2072883-A	NR	6E-6		1.05	[NR]	Illumina [7158791] (imputed)	N
916	chr22	43500211	43500212	rs5759167	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	22q13.2	NR	rs5759167-G	0.51	5E-9	(European)	1.14	[1.09-1.19]	Affymetrix [up to 19977088] (imputed)	N
916	chr22	43500211	43500212	rs5759167	26034056	Hoffmann TJ	2015-06-01	Cancer Discov	A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.	Prostate cancer	6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls	4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls	22q13.2	NR	rs5759167-G	0.505	2E-9		1.13	[1.09-1.18]	Affymetrix [up to 19977088] (imputed)	N
916	chr22	43500211	43500212	rs5759167	25939597	Berndt SI	2015-05-05	Nat Commun	Two susceptibility loci identified for prostate cancer aggressiveness.	Prostate cancer	4,600 European ancestry cases, 2,941 European ancestry controls	7,779 European ancestry cases, 7,623 European ancestry controls	22q13.2	BIK	rs5759167-G	0.5	1E-16		1.18	[1.12-1.22]	Illumina [1531807] (imputed)	N
916	chr22	43500211	43500212	rs5759167	19767753	Eeles RA	2009-09-20	Nat Genet	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	Prostate cancer	1,854 European ancestry cases, 1,894 European ancestry controls	19,879 cases and 18,761 controls of European, East Asian, African American, Latino, and Hawaiian ancestry	22q13.2	NR	rs5759167-?	0.53	6E-29		1.16	[1.14-1.20]	Illumina [541129]	N
917	chr22	43518274	43518275	rs742134	21743057	Schumacher FR	2011-07-08	Hum Mol Genet	Genome-wide association study identifies new prostate cancer susceptibility loci.	Prostate cancer	2,782 European ancestry cases, 4,458 European ancestry controls	7,358 European ancestry cases, 6,732 European ancestry controls	22q13.2	BIK	rs742134-G	NR	6E-6	(conditioned on rs5759167)	1.16	[1.01-1.23]	Illumina [571243]	N
917	chr22	43579048	43579049	rs13058467	23918034	Kuhnisch J	2013-08-07	Clin Oral Investig	Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).	Molar-incisor hypomineralization	88 European ancestry cases, 580 European ancestry controls	NA	22q13.2	SCUBE1, TTLL12	rs13058467-C	0.104	4E-7		4.4	[2.5-7.8]	Affymetrix [2013491] (imputed)	N
917	chr22	43624764	43624765	rs139014	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.2	NR	rs139014-C	0.167018170449488	5E-6	(IGP8)	0.1994	[0.11-0.28] unit decrease	Illumina [~ 2500000] (imputed)	N
917	chr22	43635572	43635573	rs5751452	23149075	Aslibekyan S	2012-11-10	Nutr Metab Cardiovasc Dis	Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.	Response to fenofibrate (adiponectin levels)	793 European ancestry individuals	NA	22q13.2	SCUBE1	rs5751452-?	NR	2E-6	(Baseline)	0.31	[0.19-0.43] ng/dL decrease	Affymetrix [2543887] (imputed)	N
922	chr22	44204318	44204319	rs8140172	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.31	NR	rs8140172-C	0.985708288681948	6E-6	(IGP45)	0.8795	[0.5-1.26] unit decrease	Illumina [~ 2500000] (imputed)	N
922	chr22	44248503	44248504	rs470089	23386860	Pasquale LR	2013-01-30	Front Genet	Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.	Type 2 diabetes (dietary heme iron intake interaction)	1,806 European ancestry cases, 2,965 European ancestry controls	NA	22q13.31	SULT4A1	rs470089-?	NR	9E-6		0.55	[NR] unit decrease	Affymetrix [681770]	N
922	chr22	44276170	44276171	rs470093	24847357	Ye Z	2014-05-09	Front Genet	Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.	Staphylococcus aureus infection	309 European ancestry cases, 2,925 European ancestry controls	NA	22q13.31	PNPLA5	rs470093-T	0.146838	7E-6		1.63	[1.31-2.02]	Illumina [508921]	N
923	chr22	44324726	44324727	rs738409	22719876	Kawaguchi T	2012-06-14	PLoS One	Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.	Nonalcoholic fatty liver disease	529 Japanese ancestry cases, 932 Japanese ancestry controls	NA	22q13.31	PNPLA3	rs738409-G	0.484	1E-10		1.66	[1.43-1.94]	Illumina [484751]	N
923	chr22	44324726	44324727	rs738409	22001757	Chambers JC	2011-10-16	Nat Genet	Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.	Liver enzyme levels (alanine transaminase)	Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals	NA	22q13.31	PNPLA3, SAMM50	rs738409-G	0.23	1E-45		6.0	[5.0-7.0] % increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
923	chr22	44324726	44324727	rs738409	21423719	Speliotes EK	2011-03-10	PLoS Genet	Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.	Nonalcoholic fatty liver disease	880 Amish individuals, 6,296 European ancestry individuals	592 European ancestry cases, 1,405 European ancestry controls	22q13.31	PNPLA3	rs738409-G	0.23	4E-34	(GOLD)	0.26	[0.22-0.30] unit increase	Affymetrix, Illumina [~ 2400000] (imputed)	N
923	chr22	44325995	44325996	rs12483959	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	22q13.31	PNPLA3	rs12483959-A	0.42	2E-39	(ALT)	0.001	[0.00080-0.00120] IU/L increase	Affymetrix [~ 2200000] (imputed)	N
923	chr22	44325995	44325996	rs12483959	21909109	Kim YJ	2011-09-11	Nat Genet	Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.	Metabolite levels	12,545 Korean ancestry individuals	Up to 30,395 East Asian ancestry individuals	22q13.31	PNPLA3	rs12483959-A	0.42	2E-18	(ALT)	0.0039	[0.0031-0.0047] IU/L decrease	Affymetrix [~ 2200000] (imputed)	N
923	chr22	44328729	44328730	rs4823173	25246029	DiStefano JK	2014-09-23	Acta Diabetol	Genome-wide analysis of hepatic lipid content in extreme obesity.	Hepatic lipid content in extreme obesity	1,868 European ancestry cases	NA	22q13.31	PNPLA3	rs4823173-?	NR	3E-7				Illumina [605718]	N
923	chr22	44332569	44332570	rs2281135	18940312	Yuan X	2008-10-10	Am J Hum Genet	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	Liver enzyme levels	7,751 European ancestry individuals	1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals	22q13.31	PNPLA3, SAMM50	rs2281135-T	0.18	8E-16	(ALT)	0.06	[0.046-0.074] U/L increase	Affymetrix, Illumina [up to 496032]	N
923	chr22	44333693	44333694	rs2896019	23535911	Kitamoto T	2013-03-28	Hum Genet	Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.	Non-alcoholic fatty liver disease	392 Japanese ancestry cases, 934 Japanese ancestry controls	172 Japanese ancestry cases, 1,012 Japanese ancestry controls	22q13.31	PARVB, PNPLA3, SAMM50	rs2896019-G	0.45	2E-20		2.02	[1.60-2.56]	Illumina [261540]	N
923	chr22	44333693	44333694	rs2896019	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	22q13.31	PARVB, PNPLA3, SAMM50	rs2896019-G	0.45	2E-12	(AST)	0.085	[0.061-0.109] unit decrease	Illumina [561583]	N
923	chr22	44333693	44333694	rs2896019	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Hematological and biochemical traits	Up to 14,402 Japanese individuals	NA	22q13.31	PARVB, PNPLA3, SAMM50	rs2896019-G	0.45	2E-12	(ALT)	0.085	[0.061-0.109] unit increase	Illumina [561583]	N
923	chr22	44391685	44391686	rs2143571	22719876	Kawaguchi T	2012-06-14	PLoS One	Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.	Nonalcoholic fatty liver disease	529 Japanese ancestry cases, 932 Japanese ancestry controls	NA	22q13.31	SAMM50	rs2143571-A	0.458	6E-7		1.47	[1.27-1.72]	Illumina [484751]	N
923	chr22	44394401	44394402	rs2073080	22719876	Kawaguchi T	2012-06-14	PLoS One	Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.	Nonalcoholic fatty liver disease	529 Japanese ancestry cases, 932 Japanese ancestry controls	NA	22q13.31	PARVB	rs2073080-T	0.458	8E-7		1.47	[1.26-1.71]	Illumina [484751]	N
924	chr22	44471122	44471123	rs77206040	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	22q13.31	NR	rs77206040-?	NR	4E-6	(Native Hawaiian)	1.2408	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
924	chr22	44476063	44476064	rs130318	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		22q13.31	PARVB	rs130318-?	NR	4E-7		1.7	[NR]	Illumina [up to 810372] (imputed)	N
924	chr22	44476063	44476064	rs130318	25117820	Schneider BP	2014-08-12	Br J Cancer	Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.	Response to chemotherapy in breast cancer (hypertension) (bevacizumab)	255 European ancestry cases, 387 European ancestry controls		22q13.31	PARVB	rs130318-?	NR	4E-6		1.72	[NR]	Illumina [up to 810372] (imputed)	N
924	chr22	44523161	44523162	rs133911	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Lewy body disease	up to 3,526 individuals	NA	22q13.31	PARVB	rs133911-G	0.7038	7E-6	(Ordinal I)	0.3047	[0.17-0.44] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
924	chr22	44526104	44526105	rs75617873	23535033	Sherva R	2013-03-24	Alzheimers Dement	Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.	Alzheimer's disease (cognitive decline)	303 European ancestry cases		22q13.31	PARVB	rs75617873-?	0.03	5E-7		0.17	unit decrease	Illumina [NR] (imputed)	N
924	chr22	44561286	44561287	rs5764106	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.31	NR	rs5764106-C	0.229970760801782	5E-6	(IGP9)	0.1865	[0.11-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
924	chr22	44561286	44561287	rs5764106	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.31	NR	rs5764106-C	0.229970760801782	2E-6	(IGP49)	0.1956	[0.12-0.28] unit decrease	Illumina [~ 2500000] (imputed)	N
925	chr22	44596084	44596085	rs139156	25866641	Xu W	2015-03-19	Biomark Res	A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes.	Survival in colon cancer	334 European ancestry cases	NA	22q13.31	PARVG	rs139156-?		7E-6	(overall survival)	2.76	[1.77-4.29]	Illumina [729737]	N
928	chr22	44968529	44968530	rs138597	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (time)	9,617 European ancestry individuals	NA	22q13.31	LOC388910	rs138597-G	NR	7E-6		0.123	[0.070-0.176] unit increase	Illumina [628922]	N
928	chr22	45011760	45011761	rs4823246	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (feminism/equality)	9,617 European ancestry individuals	NA	22q13.31	intergenic	rs4823246-G	NR	3E-6		0.1	[0.059-0.141] unit decrease	Illumina [628922]	N
929	chr22	45150658	45150659	rs5765956	22863734	Ludwig KU	2012-08-05	Nat Genet	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.	Orofacial clefts	Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls	up to 795 East Asian ancestry trios	22q13.31	NR	rs5765956-?	NR	2E-6	(Meta-All, NSCL/P)			NR [497084]	N
929	chr22	45183013	45183014	rs16992796	22554406	Kang SJ	2012-05-03	Genes Brain Behav	Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6.	Electroencephalographic traits in alcoholism	1,560 European ancestry individuals from 117 families	NA	22q13.31	PRR5, ARHGAP8	rs16992796-G	0.05	3E-6		0.236	[NR] unit decrease	Illumina [634583]	N
930	chr22	45253894	45253895	rs6006893	24882193	Winham SJ	2014-04-19	J Affect Disord	Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.	Binge eating behaviour in bipolar disorder	206 European ancestry cases with binge eating behavior, 723 European ancestry cases without binge eating behavior	70 European ancestry cases with binge eating behavior, 758 European ancestry cases without binge eating behavior	22q13.31	PRR5	rs6006893-?	NR	9E-7		1.99	[NR]	Affymetrix [8466825] (imputed)	N
933	chr22	45668011	45668012	rs58667	23541324	Li X	2013-03-27	J Allergy Clin Immunol	Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.	Pulmonary function in asthmatics	1,544 European ancestry individuals		22q13.31	UPK3A	rs58667-A	0.38	4E-7	(ppFEV1)	0.18	[NR] unit increase	Illumina [369771]	N
935	chr22	45961903	45961904	rs1985671	22365631	Greenwood TA	2012-02-22	Biol Psychiatry	Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.	Temperament (bipolar disorder)	1,263 European ancestry cases, 1,434 European ancestry controls	NA	22q13.31	FBLN1	rs1985671-?	NR	2E-8	(Hyperthymic)	1.06	[NR] unit decrease	Affymetrix [703012]	N
938	chr22	46353045	46353046	rs55769859	25760438	Anderson D	2015-03-11	PLoS One	First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.	Body mass index	361 Martu Australian Aboriginal ancestry individuals	NA	22q13.31	WNT7B	rs55769859-?	NR	5E-6		1.37	[0.78-1.96] unit increase	Illumina [1075436] (imputed)	N
938	chr22	46363738	46363739	rs10453441	25823570	Miyake M	2015-03-31	Nat Commun	Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia.	Corneal curvature	Up to 3,248 Japanese ancestry individuals	6,234 East Asian ancestry individuals, 2,007 European ancestry individuals	22q13.31	WNT7B	rs10453441-A	0.33	3E-40		0.051	[0.043-0.059] unit increase	Illumina [1773334] (imputed)	N
939	chr22	46421841	46421842	rs6519955	21732829	Dolmans GH	2011-07-06	N Engl J Med	Wnt signaling and Dupuytren's disease.	Dupuytren's disease	856 European ancestry cases, 2,836 European ancestry controls	1,298 European ancestry cases, 7,136 European ancestry controls	22q13.31	RP11-398F12.1, WNT7B	rs6519955-A	0.47	3E-33		1.54	[1.44-1.65]	Illumina [234939]	N
939	chr22	46473844	46473845	rs35245641	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.31	NR	rs35245641-C	NR	2E-6		1.0869565	[NR]	Illumina [7158791] (imputed)	N
940	chr22	46627602	46627603	rs4253772	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	22q13.31	PPARA	rs4253772-T	0.11	3E-8		0.031	[NR] unit increase	NR [NR] (imputed)	N
940	chr22	46627602	46627603	rs4253772	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	22q13.31	PPARA	rs4253772-T	0.11	1E-8		0.032	[NR] unit increase	NR [NR] (imputed)	N
940	chr22	46632588	46632589	rs9615264	25378659	Lemaitre RN	2014-11-06	J Lipid Res	Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.	Very long-chain saturated fatty acid levels (fatty acid 20:0)	10,129 European ancestry individuals	NA	22q13.31	PPARA	rs9615264-A	NR	1E-6		4.882	[NR] Z score increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
942	chr22	46879313	46879314	rs5767218	25763902	Draaken M	2015-03-12	PLoS Genet	Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.	Classic bladder exstrophy	208 European ancestry cases, 1,703 European ancestry controls	NA	22q13.31	NR	rs5767218-C	0.367	3E-6		1.71	[1.37-2.14]	Illumina [7261187] (imputed)	N
943	chr22	46982292	46982293	rs9616064	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in obese individuals	4,613 European ancestry male individuals, 4,690 European ancestry female individuals, 142 European ancestry individuals	NA	22q13.31	CELSR1, GRAMD4	rs9616064-C	0.69	9E-6	(women)	0.104	[0.059-0.149] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
947	chr22	47532395	47532396	rs5766691	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	22q13.31	TBC1D22A	rs5766691-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
952	chr22	48188252	48188253	rs5767992	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	22q13.31	RP11-191L9.1	rs5767992-A	0.067	8E-6	(INS )	0.03	[NR] uU/mL increase	Illumina [899892]	N
953	chr22	48284513	48284514	rs9627183	18821564	Mick E	2008-09-26	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder.	Attention deficit hyperactivity disorder	105 European ancestry cases, 34 Hispanic cases, 26 African American cases, 22 cases	NA	22q13.31	intergenic	rs9627183-C	0.03	3E-6				Affymetrix [319722]	N
954	chr22	48453590	48453591	rs117294	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (fairness)	9,617 European ancestry individuals	NA	22q13.31	intergenic	rs117294-C	NR	7E-6		0.11	[0.061-0.159] unit increase	Illumina [628922]	N
956	chr22	48630183	48630184	rs13054085	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	22q13.32	intergenic	rs13054085-A	0.236	2E-6	(Hcy )	0.03	[NR] umol/L increase	Illumina [899892]	N
956	chr22	48651996	48651997	rs1004689	23725790	Renteria ME	2013-06-03	Twin Res Hum Genet	GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.	DNA methylation (variation)	256 European ancestry individuals	384 European ancestry individuals	22q13.32	intergenic	rs1004689-G	0.467	2E-6	(IGF2-DMR)			Illumina [515966]	N
956	chr22	48741797	48741798	rs4407	24096698	De Vivo I	2013-10-06	Hum Genet	Genome-wide association study of endometrial cancer in E2C2.	Endometrial cancer	up to 2,695 European ancestry cases, up to 2,777 European ancestry controls	up to 3,235 cases, up to 12,059 controls	22q13.32	intergenic	rs4407-?	NR	3E-6	(European, Endometroid subtype)			Illumina [873935]	N
956	chr22	48741797	48741798	rs4407	24096698	De Vivo I	2013-10-06	Hum Genet	Genome-wide association study of endometrial cancer in E2C2.	Endometrial cancer	up to 2,695 European ancestry cases, up to 2,777 European ancestry controls	up to 3,235 cases, up to 12,059 controls	22q13.32	intergenic	rs4407-?	NR	2E-6	(Endometroid subtype)			Illumina [873935]	N
958	chr22	48923458	48923459	rs80088139	24322204	Winham SJ	2013-12-10	Mol Psychiatry	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.	Bipolar disorder (body mass index interaction)	388 European ancestry cases, 1,020 European ancestry controls	NA	22q13.32	NR	rs80088139-?	NR	5E-6				NR [up to 8466825] (imputed)	N
958	chr22	48929568	48929569	rs5768709	22158540	Wu C	2011-12-11	Nat Genet	Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.	Pancreatic cancer	981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls	2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls	22q13.32	FAM19A5	rs5768709-G	0.23	1E-10		1.25	[1.17-1.34]	Affymetrix [666141]	N
964	chr22	49677645	49677646	rs6009583	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	22q13.33	C22orf34	rs6009583-C	0.74	5E-8		0.03	[0.018-0.042] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
965	chr22	49812501	49812502	rs17000918	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IL-1beta)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	22q13.33	FLJ44385	rs17000918-A		4E-9	(AA)			Illumina [NR]	N
965	chr22	49842288	49842289	rs9627735	24159190	Seppala I	2013-10-24	Eur Heart J	Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.	Symmetrical dimethylarginine levels	5110 European ancestry individuals	NA	22q13.33	NR	rs9627735-T	0.203	6E-6		0.152	[0.085-0.219] unit decrease	Affymetrix, Illumina [10085758] (imputed)	N
967	chr22	50086372	50086373	rs6009824	21273288	Del Greco M F	2011-01-27	Hum Mol Genet	Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.	Natriuretic peptide levels	1,325 European ancestry individuals	1,746 European ancestry individuals	22q13.33	BRD1	rs6009824-A	0.15	7E-6		0.13	[0.071-0.189] unit decrease	Illumina [~ 2500000] (imputed)	N
967	chr22	50128267	50128268	rs4824093	24529757	Xie T	2014-01-17	Neurobiol Aging	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.	Amyotrophic lateral sclerosis (sporadic)	250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls	NA	22q13.33	C22orf34	rs4824093-?		8E-6				Illumina [859311]	N
968	chr22	50218610	50218611	rs138880	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	22q13.33	BRD1	rs138880-C	0.78	2E-7		1.1	[NR]	NR [1085772] (imputed)	N
968	chr22	50271175	50271176	rs5769765	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	22q13.33	NR	rs5769765-G	NR	2E-7		1.0638298	[NR]	Illumina [7158791] (imputed)	N
969	chr22	50346041	50346042	rs56091001	24927181	Navarini AA	2014-06-13	Nat Commun	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.	Acne (severe)	1,893 European ancestry cases, 5,132 European ancestry controls	2,063 European ancestry cases, 1,970 European ancestry controls	22q13.33	IL17REL, LOC90834, MAPK11, MAPK12, MLC1, PANX2, PIM3, PLXNB2, PPP6R2, SELO, TRABD, TUBGCP6, ZBED4, ALG12, BRD1, C22orf34, MOV10L1, CRELD2, DENND6B, HDAC10	rs56091001-T	0.1388	4E-6		1.28	[1.16-1.42]	Illumina [7300000] (imputed)	N
969	chr22	50350970	50350971	rs28372448	21668797	Agrawal A	2010-11-04	Addict Biol	A genome-wide association study of DSM-IV cannabis dependence.	Cannabis dependence	708 African American or European ancestry cases, 2,346 African American or European ancestry controls	NA	22q13.33	PIM3	rs28372448-?	NR	8E-6		1.68	[1.34-2.11]	Illumina [948142]	N
969	chr22	50435479	50435480	rs5771069	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	22q13.33	IL17REL, PIM3	rs5771069-G	0.51	2E-7		1.11	[1.07-1.16]	Affymetrix, Illumina [~ 1100000] (imputed)	N
969	chr22	50435479	50435480	rs5771069	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	22q13.33	IL17REL	rs5771069-G	0.49	4E-8		1.17	[1.11-1.25]	Affymetrix [1897764] (imputed)	N
970	chr22	50557406	50557407	rs138229	23942779	McGue M	2013-08-14	Behav Genet	A genome-wide association study of behavioral disinhibition.	Behavioural disinhibition (generation interaction)	3,852 European ancestry parents, 3,336 European ancestry offspring	NA	22q13.33	NR	rs138229-G	0.467	9E-6	(Illicit drug use)			Illumina [527829]	N
971	chr22	50661868	50661869	rs5771242	24023788	Ong BA	2013-09-02	PLoS One	Gene network analysis in a pediatric cohort identifies novel lung function genes.	Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	1,015 European ancestry individuals, 541 African American individuals	NA	22q13.33	NR	rs5771242-?		1E-6	(AA)			Illumina [up to 524000]	N
971	chr22	50676258	50676259	rs7511006	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	22q13.33	TUBGCP6, MOV10L1	rs7511006-G	0.244	1E-6	(Urinary nitrogen )	0.04	[NR] g/d increase	Illumina [899892]	N
973	chr22	50902389	50902390	rs5771040	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	22q13.33	NR	rs5771040-G	0.660043690698709	2E-6	(IGP64)	0.1595	[0.093-0.226] unit decrease	Illumina [~ 2500000] (imputed)	N
973	chr22	50960100	50960101	rs131814	26545630	Deming Y	2015-09-25	Neurobiol Aging	A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.	Cerebrospinal fluid clusterin levels	300 Alzheimer's disease cases, 373 controls	NA	22q13.33	NCAPH2	rs131814-?		9E-6		0.249	[NR] unit decrease	Illumina [5970354] (imputed)	N
973	chr22	50966913	50966914	rs470119	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	Mean corpuscular hemoglobin	Up to 14,362 Japanese ancestry individuals	NA	22q13.33	TYMP, KLHDC7B, SCO2, NCAPH2	rs470119-T	0.26	4E-8		0.074	[0.049-0.099] unit decrease	Illumina [561583]	N
973	chr22	50971265	50971266	rs140522	23222517	van der Harst P	2012-12-05	Nature	Seventy-five genetic loci influencing the human red blood cell.	Red blood cell traits	62,553 European ancestry individuals, 9,308 South Asian ancestry individuals	63,506 European ancestry individuals	22q13.33	TYMP, ODF3B, SCO2, NCAPH2	rs140522-C	0.67	5E-23	(EA, MCV)	0.287	[0.23-0.35] unit increase	Affymetrix, Illumina, Perlegen [2711806] (imputed)	N
973	chr22	50971265	50971266	rs140522	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	22q13.33	ODF3B, SCO2	rs140522-A	NR	2E-8		1.1	[1.09-1.12]	Illumina [465434]	N
973	chr22	50971751	50971752	rs131794	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	22q13.33	TYMP	rs131794-A	0.015	4E-16	(uridine)	0.015	[0.011-0.019] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
973	chr22	50971751	50971752	rs131794	19862010	Ganesh SK	2009-10-11	Nat Genet	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	22q13.33	ECGF1	rs131794-A	NR	1E-15		0.0	[0.003-0.005] fl decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
973	chr22	50976753	50976754	rs131788	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	22q13.33	ODF3B	rs131788-A	0.189	9E-6	(Fat mass )	0.04	[NR] kg increase	Illumina [899892]	N
974	chr22	51017352	51017353	rs5770917	18820697	Miyagawa T	2008-09-28	Nat Genet	Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.	Narcolepsy	222 Japanese ancestry cases, 389 Japanese ancestry controls	274 East Asian ancestry cases, 499 East Asian ancestry controls, 388 European ancestry cases, 397 European ancestry controls, 86 African American cases, 98 African American controls	22q13.33	CPT1B	rs5770917-C	0.17	6E-8		1.63	[1.37-1.95]	Affymetrix [249133]	N
974	chr22	51063476	51063477	rs6151429	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	22q13.33	ARSA	rs6151429-T	0.93	7E-18	(X-11423--O-sulfo-L-tyrosine)	0.029	[0.023-0.035] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
974	chr22	51063476	51063477	rs6151429	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	22q13.33	ARSA	rs6151429-T	0.93	5E-13	(X-12749)	0.025	[0.017-0.033] unit decrease	Affymetrix, Illumina [2100000] (imputed)	N
974	chr22	51101937	51101938	rs6010044	23969696	Sabater-Lleal M	2013-08-22	Circulation	Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.	Fibrinogen	91,323 European ancestry individuals	8,423 African American individuals, 1,447 Hispanic individuals	22q13.33	SHANK3, CPT1B, ARSA	rs6010044-A	0.8	3E-8	(EA)	0.008	[0.006-0.01] unit decrease	Affymetrix, Illumina [2515567] (imputed)	N
974	chr22	51104679	51104680	rs9616906	20834067	Yashin AI	2010-09-01	Aging (Albany NY)	Joint influence of small-effect genetic variants on human longevity.	Longevity	1,173 individuals	NA	22q13.33	AC000050.2	rs9616906-?	NR	1E-6	(less than or equal to)			NR [~ 550000]	N
585	chr6_apd_hap1	79517	79518	rs4324798	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p22.1	TRNAA-UGC	rs4324798-A	0.09	2E-8		1.16	[1.09-1.24]	Illumina [515922]	N
586	chr6_apd_hap1	200315	200316	rs2015436	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	6p22.1	TRIM27	rs2015436-T	0.73	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
587	chr6_apd_hap1	387667	387668	rs3129109	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p22.1	OR2J3	rs3129109-T	0.39	2E-17		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
589	chr6_apd_hap1	547669	547670	rs144447022	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs144447022-G	NR	2E-28		1.25	[NR]	Illumina [7158791] (imputed)	N
590	chr6_apd_hap1	737891	737892	rs4713226	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6p22.1	OR2H1	rs4713226-A		2E-8	(AA)			Illumina [NR]	N
590	chr6_apd_hap1	765208	765209	rs1233491	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	MAS1L	rs1233491-C	0.088	8E-10		2.2	[1.58-3.08]	Affymetrix [906600]	N
591	chr6_apd_hap1	824387	824388	rs16895057	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	6p22.1	OR2I1P	rs16895057-T	0.95	3E-6		0.153	[0.088-0.218] unit increase	Affymetrix [1532051] (imputed)	N
591	chr6_apd_hap1	829889	829890	rs11970475	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p22.1	UBD	rs11970475-A	0.19	2E-24		0.07	[0.054-0.086] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
591	chr6_apd_hap1	910576	910577	rs3095267	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p22.1	intergenic	rs3095267-?	0.81	9E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
591	chr6_apd_hap1	914963	914964	rs29232	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	GABBR1	rs29232-A	0.46	9E-17		1.67	[1.48-1.88]	Illumina [480365]	N
592	chr6_apd_hap1	929844	929845	rs2252711	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.1	MOG	rs2252711-T	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
592	chr6_apd_hap1	967411	967412	rs3131888	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	6p22.1	NR	rs3131888-C	NR	7E-6		1.2820514	[NR]	Illumina [up to 9792010] (imputed)	N
593	chr6_apd_hap1	1091481	1091482	rs2523809	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-G	rs2523809-T	NR	4E-8		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
593	chr6_apd_hap1	1114266	1114267	rs189370103	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p22.1	NR	rs189370103-?	NR	8E-6	(Native Hawaiian)	1.0607	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
593	chr6_apd_hap1	1141496	1141497	rs2524005	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p22.1	other genes, MHC	rs2524005-?	NR	5E-7		1.32	[NR]	Affymetrix [745006]	N
593	chr6_apd_hap1	1146572	1146573	rs2860580	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p22.1	HLA-A	rs2860580-?	0.62	5E-67		1.72	[1.61-1.82]	Illumina [464328]	N
593	chr6_apd_hap1	1153184	1153185	rs1061235	21428769	McCormack M	2011-03-24	N Engl J Med	HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.	Adverse response to carbamapezine	65 European ancestry cases, 3,987 European ancestry controls	80 European ancestry cases, 257 European ancestry controls		HLA-A*3101	rs1061235-?	NR	1E-7		9.12	[4.03-20.65]	Illumina [~ 1200000] (imputed)	N
593	chr6_apd_hap1	1157989	1157990	rs2517713	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-A	rs2517713-A	0.62	4E-20		1.88	[1.65-2.15]	Illumina [480365]	N
593	chr6_apd_hap1	1160222	1160223	rs9260489	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	HLA-A	rs9260489-G	0.58	2E-22		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
593	chr6_apd_hap1	1160222	1160223	rs9260489	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p22.1	HLA-B	rs9260489-T	0.45	1E-11		1.21	[NR]	Affymetrix, Illumina [2529394]	N
593	chr6_apd_hap1	1162611	1162612	rs16896742	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p22.1	HLA-A	rs16896742-G	0.38	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
593	chr6_apd_hap1	1163712	1163713	rs2571391	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-A	rs2571391-C	NR	1E-15		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
594	chr6_apd_hap1	1210439	1210440	rs7758512	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	HLA-A, ZNRD1, RNF39	rs7758512-?	NR	2E-8	(progression)			Illumina [NR]	N
594	chr6_apd_hap1	1213772	1213773	rs4313034	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs4313034-T	0.83	2E-15		1.67	[1.47-1.90]	Perlegen [268068]	N
594	chr6_apd_hap1	1257285	1257286	rs6917603	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	6p22.1	PPP1R11	rs6917603-?	NR	3E-29	(XXL-VLDL-P)	0.24	[0.2-0.28] unit decrease	Illumina [~ 7700000] (imputed)	N
594	chr6_apd_hap1	1265739	1265740	rs259919	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	ZNRD1, C6orf12	rs259919-?	NR	3E-7	(setpoint)			Illumina [NR]	N
594	chr6_apd_hap1	1272752	1272753	rs8321	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs8321-?	NR	8E-9	(5 degree of freedom test)	1.081	[1.04-1.12]	NR [1252901] (imputed)	N
594	chr6_apd_hap1	1272752	1272753	rs8321	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p22.1	ZNRD1, RNF39	rs8321-G	NR	5E-7				Illumina [291119]	N
595	chr6_apd_hap1	1318504	1318505	rs2523989	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p22.1	TRIM31	rs2523989-A	NR	2E-8		1.7499		Illumina [514008]	N
595	chr6_apd_hap1	1320597	1320598	rs34704616	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6p22.1	XXbac-BPG250I8.13	rs34704616-?	NR	6E-6	(Colorword)			Illumina [up to 563855]	N
595	chr6_apd_hap1	1333595	1333596	rs10947055	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6p22.1	TRIM38	rs10947055-?	NR	2E-7	(additive, recessive)			Affymetrix [361034]	N
595	chr6_apd_hap1	1360124	1360125	rs9468692	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	TRIM10	rs9468692-?	NR	1E-6	(setpoint)			Illumina [NR]	N
595	chr6_apd_hap1	1405472	1405473	rs2523722	22883433	Irish Schizophrenia Genomics Consortium & the Wellcome Trust Case Control Consortium 2	2012-08-07	Biol Psychiatry	Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.	Schizophrenia	1,606 European ancestry cases, 1,794 European ancestry controls	13,195 European ancestry cases, 31,021 European ancestry controls	6p22.1	MHC, TRIM26	rs2523722-G	0.737	1E-16		1.25	[1.12-1.39]	Affymetrix [6212339]	N
595	chr6_apd_hap1	1414330	1414331	rs2021722	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs2021722-?	0.789	2E-12	(Modelling analysis)			NR [1252901] (imputed)	N
595	chr6_apd_hap1	1414330	1414331	rs2021722	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	6p22.1	TRIM26	rs2021722-C	0.78	2E-12		1.15	[1.11-1.19]	Affymetrix, Illumina [1252901] (imputed)	N
595	chr6_apd_hap1	1419615	1419616	rs2844775	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6p22.1	TRIM31, TRIM10, PPP1R11, TRIM40, TRIM15, HLA-A29.1, TRIM26, HCG9, ZNRD1, RNF39	rs2844775-A	0.25	8E-7	(Temperament)	0.15	[NR] unit decrease	Affymetrix [677643]	N
597	chr6_apd_hap1	1610876	1610877	rs3094067	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	TRIM39, RPP21	rs3094067-G	0.096	2E-11		2.32	[1.68-3.20]	Affymetrix [906600]	N
597	chr6_apd_hap1	1624974	1624975	rs6986	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6p22.1	NR	rs6986-C	0.2277	5E-6	(Trans-16:1n-7, EA)	0.0079	[0.0046-0.0112] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
600	chr6_apd_hap1	1978312	1978313	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937946818961625	6E-7	(IGP19)	0.3471	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_apd_hap1	1978312	1978313	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937725588025022	3E-6	(IGP74)	0.3262	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_apd_hap1	1978312	1978313	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937641317877842	2E-6	(IGP75)	0.3304	[0.19-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_apd_hap1	1978312	1978313	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937418950958538	3E-6	(IGP69)	0.3228	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_apd_hap1	1978312	1978313	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937308425901202	5E-7	(IGP76)	0.3469	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_apd_hap1	1991270	1991271	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107712365538735	8E-6	(IGP65)	0.2214	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_apd_hap1	1991270	1991271	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107418420152946	8E-6	(IGP2)	0.2231	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_apd_hap1	1991270	1991271	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107325880449438	3E-6	(IGP42)	0.2336	[0.14-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
602	chr6_apd_hap1	2259150	2259151	rs3094084	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	MUC21, TRIM39, RPP21	rs3094084-T	0.154	2E-11		2.3	[1.76-3.01]	Affymetrix [906600]	N
602	chr6_apd_hap1	2287856	2287857	rs28360974	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	6p21.33	MUC21	rs28360974-?	NR	3E-6	(Afro-Caribbean)	10.13	[3.85-26.67]	Illumina [2485249] (imputed)	N
602	chr6_apd_hap1	2314080	2314081	rs7768644	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs7768644-A	0.091	3E-13	(trend)	5.01	[3.1-8.1] (allelic)	Affymetrix [522980]	N
602	chr6_apd_hap1	2314595	2314596	rs4248154	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs4248154-C	0.54	1E-13		1.38	[1.27-1.50]	Perlegen [268068]	N
602	chr6_apd_hap1	2318834	2318835	rs2844665	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	C6orf205	rs2844665-C	0.62	3E-7		1.54	[1.30-1.82]	Illumina [268914]	N
602	chr6_apd_hap1	2331684	2331685	rs2251830	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	HCG22	rs2251830-A	0.36	5E-22		0.053	[0.041-0.065] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
602	chr6_apd_hap1	2333114	2333115	rs2517532	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.33	HLA-C, LOC729792, HCG22, C6orf15, DHFRP2, HCP5, HLA-B	rs2517532-G	0.597	1E-8		1.16	[1.10-1.22]	Illumina [870065]	N
602	chr6_apd_hap1	2333253	2333254	rs2523864	25813999	Jeong S	2015-04-01	Invest Ophthalmol Vis Sci	Identification of a Novel Mucin Gene HCG22 Associated with Steroid-Induced Ocular Hypertension.	Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)	64 European ancestry individuals	49 European ancestry individuals	6p21.33	HCG22, HLA-A, HLA-B, MUC22	rs2523864-T	0.412	5E-9				Illumina [1545328]	N
602	chr6_apd_hap1	2339310	2339311	rs9262631	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9262631-A	0.063	6E-19	(trend)	7.09	[4.32-11.63] (allelic)	Affymetrix [522980]	N
602	chr6_apd_hap1	2339517	2339518	rs9262632	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs9262632-G	0.10	1E-8	(AA)	3.1	[NR]	Illumina [1384048] (imputed)	N
602	chr6_apd_hap1	2344831	2344832	rs2517510	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs2517510-T		4E-13	(WBC)	0.0129	[0.0094-0.0164] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
606	chr6_apd_hap1	2761505	2761506	rs2248462	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.33	MICB	rs2248462-?	NR	7E-16	(Total cHL)	1.64	[1.45-1.85]	Illumina [502514]	N
606	chr6_apd_hap1	2763571	2763572	rs3749946	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	3.8-1, HCG26	rs3749946-A	0.07	2E-15		1.97	[1.66-2.33]	Illumina [480391]	N
606	chr6_apd_hap1	2763685	2763686	rs3099844	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	6p21.33	HCG26, MICB	rs3099844-A	0.08	2E-8	(HDL)	0.15	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
606	chr6_apd_hap1	2763685	2763686	rs3099844	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	6p21.33	NFKBIL1, LTA, AIF1, TNF, LTB	rs3099844-?	0.11	5E-10		3.34	[2.29-4.89]	Illumina [346110]	N
606	chr6_apd_hap1	2787408	2787409	rs2855812	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	MICB	rs2855812-T	NR	2E-7	(FEV1)	0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_apd_hap1	2790174	2790175	rs3132468	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	6p21.33	MICB	rs3132468-?	0.13	4E-11		1.34	[1.23-1.46]	Illumina [481342]	N
606	chr6_apd_hap1	2795987	2795988	rs2516399	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs2516399-A	0.81	2E-12	(eosinophil count)	0.105	[0.08-0.14] unit increase	Illumina [2178645] (imputed)	N
606	chr6_apd_hap1	2814290	2814291	rs3853601	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	6p21.33	BAT1	rs3853601-G	0.12	2E-6		1.13	[1.08-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_apd_hap1	2820167	2820168	rs2734583	21912425	Tohkin M	2011-09-13	Pharmacogenomics J	A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.	Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)	14 Japanese ancestry cases, 991 Japanese ancestry controls	NA	6p21.33	PSORS1C1, PSORS1C3, BAT1, HLA-C, MICC, PPIAP9, POLR2LP, CCHCR1, TCF19, HLA-B*5801, HCP5, POU5F1	rs2734583-?	0.0055	2E-8		66.8	[19.8-225.0]	Illumina [890321]	N
606	chr6_apd_hap1	2872508	2872509	rs11575839	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-C	rs11575839-A	0.05	1E-54	(Serum level of C4)	0.23	[0.21-0.25] g/L decrease	Illumina [1940245] (imputed)	N
606	chr6_apd_hap1	2883186	2883187	rs2857595	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	NFKBIL1, LTA, NCR3	rs2857595-T	NR	2E-23		2.3765		Illumina [514008]	N
606	chr6_apd_hap1	2883186	2883187	rs2857595	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	6p21.33	AIF1, HLA	rs2857595-?	0.50	2E-15		1.3	[1.22-1.39]	Affymetrix [662108]	N
606	chr6_apd_hap1	2883186	2883187	rs2857595	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	NCR3	rs2857595-?	NR	8E-8	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
606	chr6_apd_hap1	2883186	2883187	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	2E-10	(FEV1/FVC)	0.037	[0.025-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_apd_hap1	2883186	2883187	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	1E-6	(FEV1)	0.025	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_apd_hap1	2887673	2887674	rs2844479	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	AIF1	rs2844479-A	0.66	3E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
607	chr6_apd_hap1	2887673	2887674	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393698650943396	4E-6	(IGP60)	0.151	[0.087-0.215] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr6_apd_hap1	2887673	2887674	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393631380483438	4E-6	(IGP6)	0.1506	[0.086-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
607	chr6_apd_hap1	2887673	2887674	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393516127507802	9E-6	(IGP61)	0.1445	[0.081-0.208] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr6_apd_hap1	2887673	2887674	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393054780607685	7E-6	(IGP58)	0.1476	[0.083-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr6_apd_hap1	2887673	2887674	rs2844479	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	6p21.33	AIF1, NCR3	rs2844479-T	0.68	2E-8		3.58	[2.33-4.83] percentage SD increase	Illumina [305846]	N
607	chr6_apd_hap1	2890015	2890016	rs9348876	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	6p21.33	AIF1	rs9348876-T	0.06	3E-6		1.41	[1.22-1.63]	Illumina [508934]	N
608	chr6_apd_hap1	3093289	3093290	rs2075799	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2075799-T	0.20	6E-97	(Serum level of C4)	0.17	[0.15-0.19] g/L decrease	Illumina [1940245] (imputed)	N
608	chr6_apd_hap1	3117218	3117219	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824607758652095	1E-6	(IGP41)	0.1858	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_apd_hap1	3117218	3117219	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824401248864668	4E-6	(IGP1)	0.1774	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_apd_hap1	3117218	3117219	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.823257144469526	3E-7	(IGP19)	0.1964	[0.12-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_apd_hap1	3117294	3117295	rs9368699	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	SNORD52	rs9368699-?	NR	5E-8	(progression)			Illumina [NR]	N
608	chr6_apd_hap1	3117882	3117883	rs17201248	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs17201248-T	0.092	3E-7	(trend)	3.48	[2.09-5.81] (allelic)	Affymetrix [522980]	N
608	chr6_apd_hap1	3141459	3141460	rs67682613	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs67682613-G	NR	7E-19		1.1494253	[NR]	Illumina [7158791] (imputed)	N
609	chr6_apd_hap1	3151820	3151821	rs11966200	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA-C, HLA-B	rs11966200-A	0.06	1E-48		1.9	[1.74-2.07]	Illumina [493909]	N
609	chr6_apd_hap1	3153465	3153466	rs494620	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	6p21.33	NR	rs494620-?	NR	5E-7		0.3	[0.18-0.42] years increase	Illumina [315418]	N
609	chr6_apd_hap1	3157351	3157352	rs12661281	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	6p21.33	SLC44A4	rs12661281-?	NR	1E-11		1.27	[NR]	Illumina [4471719] (imputed)	N
609	chr6_apd_hap1	3158677	3158678	rs2736428	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	6p21.33	SLC44A4	rs2736428-T	NR	3E-6		0.05	[0.03-0.07] kb increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
609	chr6_apd_hap1	3165987	3165988	rs652888	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	EHMT2	rs652888-G	0.24	1E-6		1.14	[1.08-1.19]	Illumina [3680900] (imputed)	N
609	chr6_apd_hap1	3165987	3165988	rs652888	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	EHMT2	rs652888-?	NR	7E-13		1.38	[1.22-1.57]	Illumina [719265]	N
609	chr6_apd_hap1	3165987	3165988	rs652888	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	EHMT2	rs652888-C	0.2021	3E-46		2.71	[NR]	Illumina [242824]	N
610	chr6_apd_hap1	3359610	3359611	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	3E-9		0.68	[0.44-0.92] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_apd_hap1	3359610	3359611	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	6p21.33	CYP21A2	rs2021783-C	0.79	4E-11				Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_apd_hap1	3359610	3359611	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	2E-12		0.49	[0.35-0.63] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_apd_hap1	3364805	3364806	rs185819	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.33	HLA class III	rs185819-T	0.52	3E-8		5.2	[3.44-6.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
610	chr6_apd_hap1	3365496	3365497	rs1150754	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.33	TNXB	rs1150754-A	0.13	6E-29	(anti-dsDNA +)	2.21	[1.93-2.53]	Illumina [421318] (imputed)	N
611	chr6_apd_hap1	3424715	3424716	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	4E-11		0.0266	[0.019-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_apd_hap1	3424715	3424716	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	3E-9	(EA)	0.025	[0.017-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_apd_hap1	3424715	3424716	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
611	chr6_apd_hap1	3424715	3424716	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
611	chr6_apd_hap1	3424715	3424716	rs204999	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs204999-G	0.2643	9E-40		2.44	[NR]	Illumina [242824]	N
611	chr6_apd_hap1	3429251	3429252	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196796488164359	4E-6	(IGP18)	0.1779	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_apd_hap1	3429251	3429252	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.19676420855615	4E-6	(IGP25)	0.1773	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_apd_hap1	3429251	3429252	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196432337204109	4E-8	(IGP23)	0.2111	[0.14-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_apd_hap1	3437209	3437210	rs3096696	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	PPT2	rs3096696-A		4E-6		1.478		Affymetrix [NR]	N
611	chr6_apd_hap1	3442216	3442217	rs3134950	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	6p21.32	AGPAT1, PPT2	rs3134950-A	0.625	6E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_apd_hap1	3442216	3442217	rs3134950	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		6p21.32	EGFL8, AGPAT1, PPT2	rs3134950-A	NR	1E-6		0.0945	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_apd_hap1	3449250	3449251	rs3096697	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	EGFL8	rs3096697-T	0.2054	1E-41		2.58	[NR]	Illumina [242824]	N
611	chr6_apd_hap1	3451287	3451288	rs1061808	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	6p21.32	AGPAT1	rs1061808-?	NR	8E-10	(proportions)	0.9	[NR] % increase	Illumina [NR] (imputed)	N
611	chr6_apd_hap1	3455227	3455228	rs3130284	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	AGPAT1	rs3130284-C	NR	7E-6		1.464		Affymetrix [NR]	N
611	chr6_apd_hap1	3461232	3461233	rs3134945	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	RNF5	rs3134945-T	0.2049	2E-40		2.54	[NR]	Illumina [242824]	N
611	chr6_apd_hap1	3461897	3461898	rs41268928	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	RNF5, NOTCH4, AGER	rs41268928-C	0.04	3E-16	(EA)	0.69	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_apd_hap1	3464000	3464001	rs2071288	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	AGER, RNF5, NOTCH4	rs2071288-T	0.1	2E-8	(Blacks)	0.56	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_apd_hap1	3466183	3466184	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	4E-9	(All)	0.23	[0.15-0.31] unit decrease	Illumina [6900000] (imputed)	N
611	chr6_apd_hap1	3466183	3466184	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	5E-9	(%LAA-950, All)	0.14	[-0.07560-0.35560] unit decrease	Illumina [7600000] (imputed)	N
611	chr6_apd_hap1	3466183	3466184	rs2070600	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	AGER	rs2070600-?	NR	1E-21	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
611	chr6_apd_hap1	3466183	3466184	rs2070600	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	6p21.32	AGER, PPT2	rs2070600-T	0.04	3E-14	(FEV1/FVC)	1.0	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
611	chr6_apd_hap1	3466183	3466184	rs2070600	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	6p21.32	AGER	rs2070600-T	0.06	3E-15	(FEV1/FVC)	0.088	[0.066-0.110] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_apd_hap1	3470318	3470319	rs204993	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	PBX2	rs204993-A	0.58	2E-15		1.17	[1.12-1.21]	Illumina [458847]	N
611	chr6_apd_hap1	3473056	3473057	rs176095	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	GPSM3	rs176095-G	NR	3E-7		1.3020833	[1.18-1.44]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
611	chr6_apd_hap1	3473056	3473057	rs176095	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	GPSM3	rs176095-T	0.81	8E-20		1.4	[1.30-1.51]	Illumina [606164]	N
611	chr6_apd_hap1	3478485	3478486	rs13215567	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	GPSM3, NOTCH4	rs13215567-A	0.049	1E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
611	chr6_apd_hap1	3480181	3480182	rs2071278	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRA	rs2071278-G	0.27	4E-72	(Serum level of C4)	0.13	[0.11-0.15] g/L decrease	Illumina [1940245] (imputed)	N
611	chr6_apd_hap1	3485823	3485824	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	5E-7	(EA)	1.25	[NR]	NR [1085772] (imputed)	N
611	chr6_apd_hap1	3485823	3485824	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	3E-7		1.25	[NR]	NR [1085772] (imputed)	N
611	chr6_apd_hap1	3486431	3486432	rs2071277	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	NOTCH4	rs2071277-C	0.219	2E-11		1.3	[1.20-1.41]	Illumina [2272849] (imputed)	N
611	chr6_apd_hap1	3487741	3487742	rs3131296	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	6p21.32	MHC, NOTCH4	rs3131296-G	0.87	2E-10		1.19	[NR]	Illumina [314868]	N
612	chr6_apd_hap1	3597576	3597577	rs6910071	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6p21.32	HLA-DRB1	rs6910071-G	0.22	1E-299		2.88	[2.73-3.03]	Affymetrix, Illumina [~ 2716259] (imputed)	N
612	chr6_apd_hap1	3620711	3620712	rs3129900	20639878	Singer JB	2010-07-18	Nat Genet	A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.	Lumiracoxib-related liver injury	31 European ancestry cases, 3 Hispanic cases, 1 case, 176 European, Hispanic and other ancestry controls	79 European ancestry cases, 16 Hispanic ancestry cases, 1 case, 405 European, Hispanic and other ancestry controls	6p21.32	HLA-DRB1	rs3129900-?	0.105	7E-25		7.5	[5.0-11.3]	Affymetrix [682386]	N
612	chr6_apd_hap1	3623637	3623638	rs9469099	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	C6orf10	rs9469099-G	0.909	5E-19		1.61	[1.44-1.80]	Illumina [606164]	N
612	chr6_apd_hap1	3630107	3630108	rs910049	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	C6orf10	rs910049-A	0.142	9E-11		1.46	[1.28-1.62]	Illumina [431618]	N
612	chr6_apd_hap1	3634013	3634014	rs9268301	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	C6orf10	rs9268301-A	0.438	2E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
612	chr6_apd_hap1	3635926	3635927	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
612	chr6_apd_hap1	3635926	3635927	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
612	chr6_apd_hap1	3635926	3635927	rs2395148	18576341	Behrens EM	2008-06-24	Arthritis Rheum	Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.	Arthritis (juvenile idiopathic)	67 European ancestry cases, 1,952 European ancestry controls, 63 cases	NA	6p21.32	HLA-DRB1	rs2395148-?	NR	2E-10		5.37	[3.02-9.56]	Illumina [524684]	N
612	chr6_apd_hap1	3650578	3650579	rs3129934	22457343	Martinelli-Boneschi F	2012-03-28	Mult Scler	A genome-wide association study in progressive multiple sclerosis.	Multiple sclerosis	197 European ancestry cases, 234 European ancestry controls	379 European ancestry cases, 398 European ancestry controls	6p21.32	C6orf10	rs3129934-T	0.10	7E-16		2.34	[1.90-2.87]	Affymetrix [277866]	N
612	chr6_apd_hap1	3650578	3650579	rs3129934	18941528	Comabella M	2008-10-22	PLoS One	Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.	Multiple sclerosis	242 European ancestry cases, 242 European ancestry controls	553 European ancestry cases, 1,033 European ancestry controls	6p21.32	HLA-DRB1	rs3129934-T	NR	9E-11		3.3	[2.3-4.9]	Affymetrix [428867]	N
612	chr6_apd_hap1	3651156	3651157	rs3129939	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs3129939-G	0.1772	2E-40		2.6	[NR]	Illumina [242824]	N
612	chr6_apd_hap1	3652023	3652024	rs2273017	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.32	MHC	rs2273017-A	0.51	2E-22		1.53	[1.40-1.66]	Perlegen [268068]	N
612	chr6_apd_hap1	3653080	3653081	rs3129943	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	C6orf10	rs3129943-T	0.62	3E-15		1.17	[1.12-1.21]	Illumina [458847]	N
612	chr6_apd_hap1	3653460	3653461	rs2050190	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	6p21.32	C6orf10	rs2050190-A	NR	7E-7		0.2528	[0.17-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_apd_hap1	3655737	3655738	rs9268402	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6p21.32	BTNL2, C6orf10	rs9268402-G	0.59	3E-15		1.16	[1.12-1.20]	Affymetrix [~ 2200000] (imputed)	N
612	chr6_apd_hap1	3659665	3659666	rs7758128	21326295	Jin Y	2011-02-17	J Invest Dermatol	Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.	Vitiligo	1,339 European ancestry cases	677 European ancestry cases	6p21.32	BTNL2, C6orf10	rs7758128-A	0.06	8E-11				Illumina [520460]	N
613	chr6_apd_hap1	3672639	3672640	rs3117099	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.32	other genes, MHC	rs3117099-?	NR	3E-6		1.25	[NR]	Affymetrix [745006]	N
613	chr6_apd_hap1	3672882	3672883	rs3117098	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	BTNL2	rs3117098-G	0.25	5E-12		1.16	[1.11-1.21]	Illumina [458847]	N
613	chr6_apd_hap1	3677584	3677585	rs1980493	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	BTNL2	rs1980493-G	NR	2E-20		2.5034		Illumina [514008]	N
613	chr6_apd_hap1	3677584	3677585	rs1980493	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	BTNL2	rs1980493-G	0.1656	1E-48		2.87	[NR]	Illumina [242824]	N
613	chr6_apd_hap1	3677584	3677585	rs1980493	19287509	Cui J	2009-03-14	Mol Med	Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.	Anti-cyclic Citrullinated Peptide Antibody	531 European ancestry cases	849 European ancestry cases	6p21.32	HLA-DRA, BTNL2	rs1980493-?	0.13	5E-7				Affymetrix [97248]	N
613	chr6_apd_hap1	3678185	3678186	rs2076530	22936702	Hofmann S	2012-08-30	Eur Respir J	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.	Sarcoidosis	637 European ancestry cases, 1,233 European ancestry controls	3,121 European ancestry cases, 4,284 European ancestry controls	6p21.32	BTNL2	rs2076530-?	NR	3E-11	(Chronic)			Affymetrix [677619]	N
613	chr6_apd_hap1	3678213	3678214	rs9268480	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	BTNL2	rs9268480-G	0.91	3E-6		1.82	[1.43-2.33]	Illumina [513923]	N
613	chr6_apd_hap1	3678324	3678325	rs2076529	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p21.32	BTNL2	rs2076529-C	0.43	4E-7		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
613	chr6_apd_hap1	3682456	3682457	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	BTNL2	rs3817963-?	NR	8E-6	(OCB positive vs. controls)	1.52	[1.27-1.79]	Illumina [495970]	N
613	chr6_apd_hap1	3682456	3682457	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	BTNL2	rs3817963-?	NR	6E-10		1.61	[1.38-1.87]	Illumina [495970]	N
613	chr6_apd_hap1	3682456	3682457	rs3817963	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-A	0.315	1E-8		1.3	[1.18-1.42]	Illumina [431618]	N
613	chr6_apd_hap1	3682456	3682457	rs3817963	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-G	0.318	3E-10		1.18	[1.12-1.24]	Illumina [538166]	N
613	chr6_apd_hap1	3684954	3684955	rs9461741	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.32	BTNL2	rs9461741-C	0.018	4E-15		2.66	[2.08-3.39]	Illumina [611856]	N
613	chr6_apd_hap1	3687599	3687600	rs10947261	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs10947261-T	0.294	3E-12		1.36	[1.25-1.49]	Illumina [5664371] (imputed)	N
613	chr6_apd_hap1	3687679	3687680	rs10947262	20305777	Nakajima M	2010-03-18	PLoS One	New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.	Knee osteoarthritis	899 Japanese ancestry cases, 3,396 Japanese ancestry controls	167 Japanese ancestry cases, 347 Japanese ancestry controls, 813 European ancestry  cases, 1,071 European ancestry controls,	6p21.32	HLA-DQA2, HLA-DQB1, BTNL2	rs10947262-T	0.42	5E-9		1.31	[1.20-1.44]	Illumina [459393]	N
613	chr6_apd_hap1	3688065	3688066	rs3806156	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p21.32	HLA-DRA, BTNL2, HLA-DQA1	rs3806156-T	0.37	7E-19		1.42	[1.32-1.54]	Illumina [520460]	N
613	chr6_apd_hap1	3690340	3690341	rs3763309	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	6p21.32	HLA-DRB1	rs3763309-?		2E-124		2.3	[2.14-2.46]	Affymetrix, Illumina [1831729] (imputed)	N
613	chr6_apd_hap1	3690715	3690716	rs3763312	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.32	BTNL2, HLA-DRA	rs3763312-A	0.15	6E-6	(Han)	0.4002	unit decrease	Illumina [up to 528294]	N
613	chr6_apd_hap1	3690838	3690839	rs3763313	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.32	NOTCH4, BTNL2	rs3763313-?	NR	2E-6	(progression)			Illumina [NR]	N
613	chr6_apd_hap1	3691155	3691156	rs3763317	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRB	rs3763317-C	0.37	9E-66	(Serum level of C4)	0.12	[0.10-0.14] g/L increase	Illumina [1940245] (imputed)	N
613	chr6_apd_hap1	3693857	3693858	rs9268516	23028483	Ramasamy A	2012-09-28	PLoS One	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Asthma	1,716 European ancestry cases, 16,888 European ancestry controls	4,035 European ancestry cases, 11,251 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268516-T	0.24	1E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 2200000] (imputed)	N
613	chr6_apd_hap1	3694104	3694105	rs9405098	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs9405098-A	0.253	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
613	chr6_apd_hap1	3696104	3696105	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.517	2E-11		0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_apd_hap1	3696104	3696105	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5158	5E-8	(women)	0.0241	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_apd_hap1	3696104	3696105	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5154	4E-6	(men)	0.0223	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_apd_hap1	3696104	3696105	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.511	4E-11	(EA)	0.0226	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_apd_hap1	3696104	3696105	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5107	2E-7	(EA, women)	0.0237	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_apd_hap1	3696104	3696105	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5106	5E-6	(EA, men)	0.0226	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_apd_hap1	3739259	3739260	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.72	1E-10	(East Asian)	1.3	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_apd_hap1	3739259	3739260	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	2E-38		1.41	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_apd_hap1	3739259	3739260	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	1E-30	(EA)	1.49	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_apd_hap1	3742665	3742666	rs6903608	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	6p21.32	HLA class II, HLA class I	rs6903608-C	0.30	7E-31		1.64	[1.51-1.78]	Affymetrix, Illumina [1004829] (imputed)	N
613	chr6_apd_hap1	3742665	3742666	rs6903608	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	6p21.32	NR	rs6903608-G	0.27	5E-27		1.62	[NR]	Illumina [296129]	N
613	chr6_apd_hap1	3742665	3742666	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_apd_hap1	3742665	3742666	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_apd_hap1	3742665	3742666	rs6903608	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	6p21.32	HLA-DRA	rs6903608-G	0.27	3E-50		1.7	[1.58-1.82]	Illumina [504374]	N
613	chr6_apd_hap1	3743152	3743153	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250	(EA)	2.47	[2.39-2.55]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_apd_hap1	3743152	3743153	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250		2.28	[2.22-2.34]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_apd_hap1	3743152	3743153	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.44	2E-145	(East Asian)	1.9	[1.81-1.99]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_apd_hap1	3744023	3744024	rs9268853	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	MHC	rs9268853-T	0.64	3E-6		1.37	[1.20-1.56]	Illumina [581060]	N
613	chr6_apd_hap1	3744023	3744024	rs9268853	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	BTLN2, HLA-DRA, HLA-DRB5, HLA-DRB1	rs9268853-C	NR	2E-10	(FL)	1.56	[NR]	Affymetrix [530583]	N
613	chr6_apd_hap1	3744023	3744024	rs9268853	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9268853-T	0.66	1E-55		1.4	[1.34-1.47]	Affymetrix, Illumina [~ 1100000] (imputed)	N
613	chr6_apd_hap1	3744099	3744100	rs9268856	24943344	Ferrari R	2014-07-01	Lancet Neurol	Frontotemporal dementia and its subtypes: a genome-wide association study.	Frontotemporal dementia	1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls	690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2	rs9268856-C	0.748	6E-9	(All Frontotemporal dementia)	1.24	[1.16-1.32]	Illumina [6026385] (imputed)	N
613	chr6_apd_hap1	3745527	3745528	rs9268877	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	6p21.32	MHC	rs9268877-?	NR	4E-23				Affymetrix [NR]	N
613	chr6_apd_hap1	3745527	3745528	rs9268877	18836448	Franke A	2008-10-05	Nat Genet	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.	Ulcerative colitis	1,167 European ancestry cases, 777 European ancestry controls	1,855 European ancestry cases, 3,091 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268877-T	0.45	6E-18		1.45	[1.33-1.58]	Affymetrix [355262]	N
613	chr6_apd_hap1	3746460	3746461	rs9268905	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	6p21.32	HLA-DRA	rs9268905-C	0.32	1E-7				Illumina [~ 2609000] (imputed)	N
613	chr6_apd_hap1	3747218	3747219	rs9268923	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	6p21.32	HLA-DRA	rs9268923-C	0.67	4E-15		1.45	[1.33-1.59]	Affymetrix [1897764] (imputed)	N
613	chr6_apd_hap1	3747550	3747551	rs2395185	25186300	Terao C	2014-09-03	Arthritis Rheumatol	An association between anti-nuclear antibody and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study.	Antinuclear antibody levels	3,185 Japanese ancestry individuals	3,963 Japanese ancestry individuals	6p21.32	HLA-DRA, HLA-DRB5	rs2395185-?	NR	1E-11		0.25	unit increase	Illumina [303506]	N
613	chr6_apd_hap1	3747550	3747551	rs2395185	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	6p21.32	HLA class II	rs2395185-T	0.35	1E-8		1.17	[1.11-1.23]	Illumina [596032]	N
613	chr6_apd_hap1	3747550	3747551	rs2395185	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.32	HLA-DRA	rs2395185-?	NR	4E-31	(Total cHL)	1.82	[1.67-2.00]	Illumina [502514]	N
613	chr6_apd_hap1	3747550	3747551	rs2395185	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	6p21.32	C6orf10, BTNL2, HLA	rs2395185-G	NR	9E-23		1.49	[NR]	Illumina [266047]	N
613	chr6_apd_hap1	3747550	3747551	rs2395185	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	intergenic	rs2395185-G	0.61	5E-22		1.92	[1.68-2.19]	Illumina [513923]	N
613	chr6_apd_hap1	3747550	3747551	rs2395185	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, BTNL2, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs2395185-?	0.67	1E-16		1.52		Illumina [280748]	N
613	chr6_apd_hap1	3758580	3758581	rs12194148	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs12194148-?	NR	5E-58	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
613	chr6_apd_hap1	3758926	3758927	rs12195582	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	6p21.32	HLA	rs12195582-T	0.465	5E-100		1.78	[1.69-1.88]	Illumina [up to 21554489]	N
613	chr6_apd_hap1	3761100	3761101	rs7453498	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	6p21.32	intergenic	rs7453498-C	0.8656	3E-6	(Complete)	0.8142	[0.47-1.16] unit increase	Affymetrix, Illumina [NR] (imputed)	N
615	chr6_apd_hap1	3973536	3973537	rs3916765	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p21.32	HLA-DQA2	rs3916765-A	0.12	1E-6	(Lean)	1.21	[1.12-1.31]	NR [NR]	N
615	chr6_apd_hap1	3975932	3975933	rs9275698	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQA2	rs9275698-T	0.79	5E-12		1.18	[1.12-1.24]	Illumina [458847]	N
615	chr6_apd_hap1	3985755	3985756	rs2859113	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs2859113-C	0.378328302013423	6E-8	(IGP59)	0.1817	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
615	chr6_apd_hap1	3988042	3988043	rs2858884	20711174	Hor H	2010-08-15	Nat Genet	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	Narcolepsy	562 European ancestry cases, 702 European ancestry controls	370 cases, 495 controls	6p21.32	HLA-DQA2	rs2858884-A	0.81	3E-8		1.79	[1.45-2.17]	Affymetrix [392949]	N
615	chr6_apd_hap1	3995248	3995249	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQA2	rs9276370-T	0.076	2E-12		1.95	[1.62-2.34]	Illumina [456262]	N
615	chr6_apd_hap1	3995248	3995249	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_apd_hap1	4012194	4012195	rs7756516	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_apd_hap1	4013471	4013472	rs2301271	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2	rs2301271-T	0.40	2E-12	(anti-dsDNA -)	1.47	[1.32-1.63]	Illumina [421318] (imputed)	N
615	chr6_apd_hap1	4015081	4015082	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.346381764494382	2E-8	(IGP42)	0.1909	[0.12-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
615	chr6_apd_hap1	4015081	4015082	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.34601888034188	4E-8	(IGP2)	0.1853	[0.12-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
615	chr6_apd_hap1	4018290	4018291	rs7453920	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-A	0.88	1E-60		2.0	[1.82-2.17]	Illumina [3680900] (imputed)	N
615	chr6_apd_hap1	4018290	4018291	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.051	7E-15		2.31	[1.87-2.85]	Illumina [456262]	N
615	chr6_apd_hap1	4018290	4018291	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_apd_hap1	4018290	4018291	rs7453920	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.87	5E-37		1.8868	[1.69-2.08]	Illumina [490610]	N
615	chr6_apd_hap1	4018290	4018291	rs7453920	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs7453920-?	NR	7E-26		2.0	[1.72-2.27]	Illumina [719265]	N
615	chr6_apd_hap1	4018290	4018291	rs7453920	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2	rs7453920-?	NR	5E-6	(LYM)	1.19	[1.11-1.3]	Affymetrix [530583]	N
615	chr6_apd_hap1	4018290	4018291	rs7453920	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HAL-DQB2	rs7453920-G	0.83	6E-28		1.81	[1.62-2.01]	Illumina [423627]	N
615	chr6_apd_hap1	4018364	4018365	rs2051549	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	6p21.32	HLA-DQA2	rs2051549-?	NR	3E-22				Illumina [737984]	N
615	chr6_apd_hap1	4024976	4024977	rs9276606	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs9276606-T	0.15	3E-22	(Serum level of C4)	0.09	[0.070-0.110] g/L decrease	Illumina [1940245] (imputed)	N
615	chr6_apd_hap1	4030147	4030148	rs2621416	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2, TAP2	rs2621416-G	NR	2E-9	(FL)	1.57	[NR]	Affymetrix [530583]	N
615	chr6_apd_hap1	4051418	4051419	rs2857151	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	6p21.32	HLA-DOB, HLA-DQB2	rs2857151-G	0.76	5E-11		1.47	[1.23-1.77]	Illumina [463793]	N
616	chr6_apd_hap1	4070248	4070249	rs7383287	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs7383287-A	NR	1E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
616	chr6_apd_hap1	4074198	4074199	rs1894407	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6p21.32	NR	rs1894407-C		1E-7		1.17	[1.11-1.24]	Affymetrix, Illumina [up to 3437411] (imputed)	N
616	chr6_apd_hap1	4084777	4084778	rs2228391	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA	rs2228391-C	0.108	4E-7	(trend)	3.32	[2.02-5.46] (allelic)	Affymetrix [522980]	N
616	chr6_apd_hap1	4084880	4084881	rs241436	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p21.32	TAP2	rs241436-G	0.49	8E-6	(men)	0.089	[0.05-0.128] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
616	chr6_apd_hap1	4085735	4085736	rs1015166	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	TAP2	rs1015166-T	NR	4E-22		2.1428		Illumina [514008]	N
616	chr6_apd_hap1	4091074	4091075	rs241428	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs241428-G	0.08	9E-83	(Serum level of C4)	0.23	[0.21-0.25] g/L increase	Illumina [1940245] (imputed)	N
616	chr6_apd_hap1	4096851	4096852	rs9357155	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	TAP2, TAP1, PSMB8, PSMB9	rs9357155-?	0.87 (EA)	2E-12		1.41	[NR]	Illumina [498322]	N
616	chr6_apd_hap1	4098632	4098633	rs2071543	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	PSMB9, TAP1, TAP2, PSMB8	rs2071543-G	0.80	2E-9	(East Asian)	1.41	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_apd_hap1	4139609	4139610	rs2187689	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	PSMB9	rs2187689-C	0.08	3E-8		0.23	[0.15-0.31] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4141654	4141655	rs10046257	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10046257-A	0.10	3E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4142674	4142675	rs6457690	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6457690-A	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4143343	4143344	rs1029296	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029296-C	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4143444	4143445	rs1029295	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029295-C	0.10	5E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4143896	4143897	rs6936004	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6936004-C	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4144379	4144380	rs10214886	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10214886-A	0.10	2E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4146672	4146673	rs7744666	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs7744666-C	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4146708	4146709	rs11969002	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs11969002-A	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4147712	4147713	rs9469300	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs9469300-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_apd_hap1	4149567	4149568	rs3749982	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs3749982-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_apd_hap1	4200231	4200232	rs1480380	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	NR	rs1480380-C	0.908	6E-7	(Modelling analysis)			NR [1252901] (imputed)	N
617	chr6_apd_hap1	4200231	4200232	rs1480380	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs1480380-T	0.0877	4E-39		3.05	[NR]	Illumina [242824]	N
617	chr6_apd_hap1	4201711	4201712	rs73396800	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs73396800-G	NR	4E-16		1.1904762	[NR]	Illumina [7158791] (imputed)	N
617	chr6_apd_hap1	4202836	4202837	rs16871226	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs16871226-G	0.0244821228239845	2E-6	(IGP67)	0.5182	[0.3-0.73] unit increase	Illumina [~ 2500000] (imputed)	N
617	chr6_apd_hap1	4319840	4319841	rs3077	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPA1	rs3077-A	0.66	1E-53		1.45	[1.39-1.52]	Illumina [3680900] (imputed)	N
617	chr6_apd_hap1	4319840	4319841	rs3077	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs3077-?	NR	5E-39		1.89	[1.69-2.08]	Illumina [719265]	N
617	chr6_apd_hap1	4319840	4319841	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	4E-45	(Protective effects against CHB)	1.82	[1.67-1.96]	Affymetrix [597789]	N
617	chr6_apd_hap1	4319840	4319841	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	1E-9	(Clearance of HBV)	1.67	[1.43-2.0]	Affymetrix [597789]	N
617	chr6_apd_hap1	4319840	4319841	rs3077	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPA1	rs3077-G	0.60	2E-61		1.87	[1.73-2.01]	Illumina [423627]	N
618	chr6_apd_hap1	4329680	4329681	rs987870	21814517	Noguchi E	2011-07-21	PLoS Genet	Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.	Asthma	938 Japanese ancestry cases, 2,376 Japanese ancestry controls	1653 East Asian ancestry cases, 1453 East Asian ancestry controls	6p21.32	HLA, DPB1	rs987870-C	0.14	2E-10		1.4	[1.26-1.55]	Illumina [450326]	N
618	chr6_apd_hap1	4329680	4329681	rs987870	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1	rs987870-?	0.15	2E-20	(ATA positive)	2.09	[1.78-2.45]	Illumina [NR] (imputed)	N
618	chr6_apd_hap1	4335467	4335468	rs1042151	23180272	Park BL	2012-11-21	Hum Genet	Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.	Aspirin exacerbated respiratory disease in asthmatics	117 Korean ancestry cases, 685 Korean ancestry controls	142 Korean ancestry cases, 996 Korean ancestry controls	6p21.32	HLA-DPB1	rs1042151-G	0.083	5E-7		2.4	[1.68-3.42]	Illumina [430486]	N
618	chr6_apd_hap1	4341651	4341652	rs9277535	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-A	0.58	1E-70		1.52	[1.45-1.59]	Illumina [3680900] (imputed)	N
618	chr6_apd_hap1	4341651	4341652	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.251	5E-14		1.59	[1.41-1.79]	Illumina [456262]	N
618	chr6_apd_hap1	4341651	4341652	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
618	chr6_apd_hap1	4341651	4341652	rs9277535	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs9277535-?	NR	4E-40		1.89	[1.72-2.08]	Illumina [719265]	N
618	chr6_apd_hap1	4341651	4341652	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-21	(Protective effects against CHB)	1.64	[1.47-1.82]	Affymetrix [597789]	N
618	chr6_apd_hap1	4341651	4341652	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-17	(Clearance of HBV)	1.52	[1.37-1.67]	Affymetrix [597789]	N
618	chr6_apd_hap1	4341651	4341652	rs9277535	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DPB1	rs9277535-?	NR	3E-12		1.39	[1.23-1.59]	Illumina [455508]	N
618	chr6_apd_hap1	4341651	4341652	rs9277535	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.57	3E-54		1.77	[1.65-1.91]	Illumina [423627]	N
618	chr6_apd_hap1	4341651	4341652	rs9277535	19349983	Kamatani Y	2009-04-06	Nat Genet	A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.	Hepatitis B	179 Japanese ancestry cases, 934 Japanese ancestry controls	1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls	6p21.32	HLA-DPB1	rs9277535-G		6E-39		1.75	[1.61-1.92]	Illumina [499544]	N
618	chr6_apd_hap1	4342328	4342329	rs9277554	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	6p21.32	HLA-DOA, HSD17B8, RING1, COL11A2, RXRB, HLA-DPB1*04, HLA-DPB1, HLA-DPB2	rs9277554-C	0.708	2E-50		4.17	[3.33-5.00]	Illumina [287802]	N
618	chr6_apd_hap1	4342395	4342396	rs9277555	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	6p21.32	NR	rs9277555-G		6E-7		0.0199	[0.010-0.030] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
618	chr6_apd_hap1	4346908	4346909	rs2281388	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DPB1	rs2281388-T	0.32	2E-65		1.64	[1.55-1.74]	Illumina [486049]	N
618	chr6_apd_hap1	4347612	4347613	rs6928954	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	6p21.32	intergenic	rs6928954-?	0.023	1E-6		0.075	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
618	chr6_apd_hap1	4356683	4356684	rs3117242	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	6p21.32	HLA-DP, COL11A2	rs3117242-?	NR	1E-71		3.67	[NR]	Affymetrix [NR]	N
618	chr6_apd_hap1	4358935	4358936	rs4282438	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	COL11A2, HLA-DPB1, HLA-DPA1	rs4282438-G	0.3546	9E-25		1.58	[1.45-1.72]	Affymetrix [556134]	N
618	chr6_apd_hap1	4358935	4358936	rs4282438	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	HLA-DPB2	rs4282438-?	0.56	5E-27	(Stringently Matched)	1.35	[1.27-1.41]	Affymetrix [563339]	N
618	chr6_apd_hap1	4369070	4369071	rs733208	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Thyroid peroxidase antibody positivity	377 Korean ancestry cases, 3,019 Korean ancestry anti-TPO controls	108 Korean ancestry cases, 734 Korean ancestry controls	6p21.32	HLA-DPB2	rs733208-A	0.30	4E-7		1.435	[1.30-1.57]	Affymetrix [1418709] (imputed)	N
618	chr6_apd_hap1	4373011	4373012	rs3117035	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	6p21.32	intergenic	rs3117035-A	0.48	1E-6		0.14	[0.08-0.20] unit decrease	Illumina [~ 318327]	N
618	chr6_apd_hap1	4373210	4373211	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs1883414-G	0.68	2E-11		1.22	[NR]	Illumina [> 1000000] (imputed)	N
618	chr6_apd_hap1	4373210	4373211	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB1, HLA-DPA1, HLA-DPB2	rs1883414-G	0.68	5E-7	(EA)	1.2	[NR]	Illumina [> 1000000] (imputed)	N
618	chr6_apd_hap1	4373210	4373211	rs1883414	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1, HLA-DPB2	rs1883414-?	0.67 (EA)	5E-9		1.28	[NR]	Illumina [498322]	N
618	chr6_apd_hap1	4376385	4376386	rs3117027	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DPB2	rs3117027-?	NR	1E-7		1.25	[1.15-1.36]	Illumina [632668]	N
618	chr6_apd_hap1	4384373	4384374	rs3129269	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs3129269-C	NR	5E-7	(East Asian)	1.29	[NR]	Illumina [> 1000000] (imputed)	N
587	chr6_cox_hap2	298991	298992	rs4324798	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p22.1	TRNAA-UGC	rs4324798-A	0.09	2E-8		1.16	[1.09-1.24]	Illumina [515922]	N
588	chr6_cox_hap2	415673	415674	rs2015436	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	6p22.1	TRIM27	rs2015436-T	0.73	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
588	chr6_cox_hap2	434987	434988	rs4947339	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	6p22.1	TRIM27	rs4947339-T	0.438	2E-6	(epinehprine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
589	chr6_cox_hap2	603109	603110	rs3129109	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p22.1	OR2J3	rs3129109-T	0.39	2E-17		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
590	chr6_cox_hap2	699616	699617	rs9257616	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	6p22.1	OR2J2, TRIM27, ZNF311, OR2W1, OR2B3, LOC651503, OR214J1, OR5V1, OR12D3, OR2J3	rs9257616-G	0.56	3E-7		0.093	[0.058-0.128] unit increase	Illumina [~ 2500000] (imputed)	N
590	chr6_cox_hap2	763115	763116	rs144447022	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs144447022-G	NR	2E-28		1.25	[NR]	Illumina [7158791] (imputed)	N
591	chr6_cox_hap2	870717	870718	rs9378134	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	6p22.1	OR12D3	rs9378134-A	0.04	3E-6		0.49	[0.29-0.69] unit increase	Illumina [2675979] (imputed)	N
591	chr6_cox_hap2	874134	874135	rs3094548	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p22.1	OR12D2	rs3094548-G	NR	1E-7	(FEV1)	0.029	[0.019-0.039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
591	chr6_cox_hap2	875263	875264	rs9257809	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	6p22.1	OR2D12, OR2D13, MHC	rs9257809-A	0.87	4E-9		1.21	[1.13-1.28]	Illumina [521744]	N
591	chr6_cox_hap2	905782	905783	rs16894878	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.1	OR12D1P, OR11A1	rs16894878-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
592	chr6_cox_hap2	953194	953195	rs4713226	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6p22.1	OR2H1	rs4713226-A		2E-8	(AA)			Illumina [NR]	N
592	chr6_cox_hap2	980510	980511	rs1233491	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	MAS1L	rs1233491-C	0.088	8E-10		2.2	[1.58-3.08]	Affymetrix [906600]	N
592	chr6_cox_hap2	1039686	1039687	rs16895057	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	6p22.1	OR2I1P	rs16895057-T	0.95	3E-6		0.153	[0.088-0.218] unit increase	Affymetrix [1532051] (imputed)	N
592	chr6_cox_hap2	1045186	1045187	rs11970475	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p22.1	UBD	rs11970475-A	0.19	2E-24		0.07	[0.054-0.086] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
593	chr6_cox_hap2	1125851	1125852	rs3095267	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p22.1	intergenic	rs3095267-?	0.81	9E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
593	chr6_cox_hap2	1130238	1130239	rs29232	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	GABBR1	rs29232-A	0.46	9E-17		1.67	[1.48-1.88]	Illumina [480365]	N
593	chr6_cox_hap2	1145119	1145120	rs2252711	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.1	MOG	rs2252711-T	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
593	chr6_cox_hap2	1168384	1168385	rs385492	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs385492-T	NR	1E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
594	chr6_cox_hap2	1182725	1182726	rs3131888	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	6p22.1	NR	rs3131888-C	NR	7E-6		1.2820514	[NR]	Illumina [up to 9792010] (imputed)	N
594	chr6_cox_hap2	1189126	1189127	rs3129055	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-F	rs3129055-G	0.31	7E-11		1.51	[1.34-1.71]	Illumina [480365]	N
594	chr6_cox_hap2	1218677	1218678	rs2523395	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	6p22.1	LOC285830	rs2523395-?	NR	2E-6	(rs1512268)	1.24	[1.14-1.35]	Affymetrix, Illumina [1117531] (imputed)	N
594	chr6_cox_hap2	1221837	1221838	rs2523393	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p22.1	HLA-B	rs2523393-A	0.59	1E-17		1.28	[1.18-1.39]	Affymetrix, Illumina [~ 2560000] (imputed)	N
594	chr6_cox_hap2	1239325	1239326	rs9258260	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	6p22.1	UBD, HLA-A, HLA-G, HLA-F, MOG, GABBR1, HLA-H	rs9258260-T	0.104	2E-10		1.45	[1.21-1.68]	Affymetrix, Illumina [1060934] (imputed)	N
595	chr6_cox_hap2	1348041	1348042	rs2523822	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA	6p22.1	HLA-A	rs2523822-?	NR	2E-10		2.3	[1.80-2.90]	Illumina [822927]	N
595	chr6_cox_hap2	1363345	1363346	rs2523809	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-G	rs2523809-T	NR	4E-8		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
595	chr6_cox_hap2	1386130	1386131	rs189370103	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p22.1	NR	rs189370103-?	NR	8E-6	(Native Hawaiian)	1.0607	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
595	chr6_cox_hap2	1413360	1413361	rs2524005	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p22.1	other genes, MHC	rs2524005-?	NR	5E-7		1.32	[NR]	Affymetrix [745006]	N
595	chr6_cox_hap2	1429854	1429855	rs2517713	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-A	rs2517713-A	0.62	4E-20		1.88	[1.65-2.15]	Illumina [480365]	N
595	chr6_cox_hap2	1432087	1432088	rs9260489	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	HLA-A	rs9260489-G	0.58	2E-22		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
595	chr6_cox_hap2	1432087	1432088	rs9260489	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p22.1	HLA-B	rs9260489-T	0.45	1E-11		1.21	[NR]	Affymetrix, Illumina [2529394]	N
595	chr6_cox_hap2	1434476	1434477	rs16896742	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p22.1	HLA-A	rs16896742-G	0.38	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
595	chr6_cox_hap2	1435577	1435578	rs2571391	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-A	rs2571391-C	NR	1E-15		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
596	chr6_cox_hap2	1445878	1445879	rs6935053	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p22.1	HCG9	rs6935053-?	NR	2E-6	(Conditioned on rs9271366)			Illumina [581060]	N
596	chr6_cox_hap2	1446963	1446964	rs3893464	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs3893464-G	0.36	2E-20		1.53	[1.39-1.67]	Perlegen [268068]	N
596	chr6_cox_hap2	1453645	1453646	rs2523946	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p22.1	NR	rs2523946-C	0.511	5E-11		1.317	[1.217-1.426]	Illumina [3792949] (imputed)	N
596	chr6_cox_hap2	1453645	1453646	rs2523946	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p22.1	HLA-A	rs2523946-C	0.50	2E-11		1.21	[1.15-1.28]	Illumina [444882]	N
596	chr6_cox_hap2	1453785	1453786	rs3823355	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p22.1	HLA-A, HCG9	rs3823355-T	0.29	9E-23		1.5	[1.39-1.63]	Illumina [520460]	N
596	chr6_cox_hap2	1454769	1454770	rs6904029	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6p22.1	HLA-A29.1, HCG9	rs6904029-?		3E-6	(PC3)	0.0464	[NR] unit decrease	Illumina [4167292] (imputed)	N
596	chr6_cox_hap2	1482305	1482306	rs7758512	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	HLA-A, ZNRD1, RNF39	rs7758512-?	NR	2E-8	(progression)			Illumina [NR]	N
596	chr6_cox_hap2	1485638	1485639	rs4313034	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs4313034-T	0.83	2E-15		1.67	[1.47-1.90]	Perlegen [268068]	N
596	chr6_cox_hap2	1529150	1529151	rs6917603	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	6p22.1	PPP1R11	rs6917603-?	NR	3E-29	(XXL-VLDL-P)	0.24	[0.2-0.28] unit decrease	Illumina [~ 7700000] (imputed)	N
596	chr6_cox_hap2	1537608	1537609	rs259919	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	ZNRD1, C6orf12	rs259919-?	NR	3E-7	(setpoint)			Illumina [NR]	N
596	chr6_cox_hap2	1544621	1544622	rs8321	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs8321-?	NR	8E-9	(5 degree of freedom test)	1.081	[1.04-1.12]	NR [1252901] (imputed)	N
596	chr6_cox_hap2	1544621	1544622	rs8321	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p22.1	ZNRD1, RNF39	rs8321-G	NR	5E-7				Illumina [291119]	N
597	chr6_cox_hap2	1587986	1587987	rs2023472	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	TRIM31	rs2023472-A	0.38	3E-15		0.03	[0.022-0.038] unit increase	Affymetrix [2500000] (imputed)	N
597	chr6_cox_hap2	1590395	1590396	rs2523989	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p22.1	TRIM31	rs2523989-A	NR	2E-8		1.7499		Illumina [514008]	N
597	chr6_cox_hap2	1592500	1592501	rs34704616	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6p22.1	XXbac-BPG250I8.13	rs34704616-?	NR	6E-6	(Colorword)			Illumina [up to 563855]	N
597	chr6_cox_hap2	1605498	1605499	rs10947055	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6p22.1	TRIM38	rs10947055-?	NR	2E-7	(additive, recessive)			Affymetrix [361034]	N
597	chr6_cox_hap2	1632026	1632027	rs9468692	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	TRIM10	rs9468692-?	NR	1E-6	(setpoint)			Illumina [NR]	N
597	chr6_cox_hap2	1677373	1677374	rs2523722	22883433	Irish Schizophrenia Genomics Consortium & the Wellcome Trust Case Control Consortium 2	2012-08-07	Biol Psychiatry	Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.	Schizophrenia	1,606 European ancestry cases, 1,794 European ancestry controls	13,195 European ancestry cases, 31,021 European ancestry controls	6p22.1	MHC, TRIM26	rs2523722-G	0.737	1E-16		1.25	[1.12-1.39]	Affymetrix [6212339]	N
597	chr6_cox_hap2	1686226	1686227	rs2021722	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs2021722-?	0.789	2E-12	(Modelling analysis)			NR [1252901] (imputed)	N
597	chr6_cox_hap2	1686226	1686227	rs2021722	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	6p22.1	TRIM26	rs2021722-C	0.78	2E-12		1.15	[1.11-1.19]	Affymetrix, Illumina [1252901] (imputed)	N
597	chr6_cox_hap2	1691523	1691524	rs2844775	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6p22.1	TRIM31, TRIM10, PPP1R11, TRIM40, TRIM15, HLA-A29.1, TRIM26, HCG9, ZNRD1, RNF39	rs2844775-A	0.25	8E-7	(Temperament)	0.15	[NR] unit decrease	Affymetrix [677643]	N
598	chr6_cox_hap2	1811253	1811254	rs3094067	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	TRIM39, RPP21	rs3094067-G	0.096	2E-11		2.32	[1.68-3.20]	Affymetrix [906600]	N
598	chr6_cox_hap2	1825349	1825350	rs6986	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6p22.1	NR	rs6986-C	0.2277	5E-6	(Trans-16:1n-7, EA)	0.0079	[0.0046-0.0112] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
600	chr6_cox_hap2	2049656	2049657	rs3132613	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs3132613-C	0.25	1E-13		1.43	[1.30-1.57]	Perlegen [268068]	N
601	chr6_cox_hap2	2178737	2178738	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937946818961625	6E-7	(IGP19)	0.3471	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
601	chr6_cox_hap2	2178737	2178738	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937725588025022	3E-6	(IGP74)	0.3262	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
601	chr6_cox_hap2	2178737	2178738	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937641317877842	2E-6	(IGP75)	0.3304	[0.19-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
601	chr6_cox_hap2	2178737	2178738	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937418950958538	3E-6	(IGP69)	0.3228	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
601	chr6_cox_hap2	2178737	2178738	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937308425901202	5E-7	(IGP76)	0.3469	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
601	chr6_cox_hap2	2191696	2191697	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107712365538735	8E-6	(IGP65)	0.2214	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
601	chr6_cox_hap2	2191696	2191697	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107418420152946	8E-6	(IGP2)	0.2231	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
601	chr6_cox_hap2	2191696	2191697	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107325880449438	3E-6	(IGP42)	0.2336	[0.14-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
602	chr6_cox_hap2	2248189	2248190	rs12526186	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	6p21.33	intergenic	rs12526186-?	NR	3E-6	(risperidone)	9.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
602	chr6_cox_hap2	2249524	2249525	rs3094117	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p21.33	intergenic	rs3094117-?	0.77	2E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
602	chr6_cox_hap2	2275339	2275340	rs3131060	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	FLOT1	rs3131060-A	0.112	1E-13		2.3	[1.71-3.11]	Affymetrix [906600]	N
602	chr6_cox_hap2	2278997	2278998	rs4587207	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	6p21.33	FLOT1, LINC00243, IER3	rs4587207-G	0.20	2E-8	(EA)	3.14	[2.04-4.24] unit decrease	Affymetrix, Illumina [2033301]	N
602	chr6_cox_hap2	2286408	2286409	rs3130783	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	IER3, DDR1	rs3130783-A	0.79	2E-11		1.16	[1.11-1.20]	Affymetrix, Illumina [2442884] (imputed)	N
602	chr6_cox_hap2	2294055	2294056	rs886424	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	IER3, DDR1	rs886424-A	NR	3E-14		2.2107		Illumina [514008]	N
602	chr6_cox_hap2	2294055	2294056	rs886424	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.33	other genes, MHC	rs886424-?	NR	9E-7		1.37	[NR]	Affymetrix [745006]	N
602	chr6_cox_hap2	2307232	2307233	rs7772131	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	6p21.33	C6orf214	rs7772131-?	NR	3E-6	(AA)	6.73	[0.89-12.57] unit decrease	Affymetrix [~ 2300000] (imputed)	N
602	chr6_cox_hap2	2310052	2310053	rs7749924	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs7749924-C	0.851598582628062	8E-6	(IGP32)	0.2204	[0.12-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
602	chr6_cox_hap2	2311456	2311457	rs9501030	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.33	IER3, GTF2H4, FLOT1, VARS2, MIR588, DDR1	rs9501030-A	NR	4E-6	(Analysis II)			Illumina [313720]	N
603	chr6_cox_hap2	2360350	2360351	rs7756521	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	VARS2, DDR1, DPCR1	rs7756521-?	NR	1E-6	(progression)			Illumina [NR]	N
603	chr6_cox_hap2	2388226	2388227	rs1052693	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-A	rs1052693-G	0.36	3E-48	(Serum level of C4)	0.1	[0.080-0.120] g/L increase	Illumina [1940245] (imputed)	N
603	chr6_cox_hap2	2425361	2425362	rs3132581	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.33	NR	rs3132581-G		2E-7	(Modelling analysis)			NR [1252901] (imputed)	N
603	chr6_cox_hap2	2432027	2432028	rs3132580	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	DPCR1	rs3132580-T	0.1379	3E-40		2.74	[NR]	Illumina [242824]	N
603	chr6_cox_hap2	2450781	2450782	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
603	chr6_cox_hap2	2450781	2450782	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
603	chr6_cox_hap2	2459409	2459410	rs3094084	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	MUC21, TRIM39, RPP21	rs3094084-T	0.154	2E-11		2.3	[1.76-3.01]	Affymetrix [906600]	N
603	chr6_cox_hap2	2488138	2488139	rs28360974	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	6p21.33	MUC21	rs28360974-?	NR	3E-6	(Afro-Caribbean)	10.13	[3.85-26.67]	Illumina [2485249] (imputed)	N
604	chr6_cox_hap2	2514123	2514124	rs7768644	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs7768644-A	0.091	3E-13	(trend)	5.01	[3.1-8.1] (allelic)	Affymetrix [522980]	N
604	chr6_cox_hap2	2514638	2514639	rs4248154	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs4248154-C	0.54	1E-13		1.38	[1.27-1.50]	Perlegen [268068]	N
604	chr6_cox_hap2	2518876	2518877	rs2844665	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	C6orf205	rs2844665-C	0.62	3E-7		1.54	[1.30-1.82]	Illumina [268914]	N
604	chr6_cox_hap2	2531718	2531719	rs2251830	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	HCG22	rs2251830-A	0.36	5E-22		0.053	[0.041-0.065] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
604	chr6_cox_hap2	2533148	2533149	rs2517532	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.33	HLA-C, LOC729792, HCG22, C6orf15, DHFRP2, HCP5, HLA-B	rs2517532-G	0.597	1E-8		1.16	[1.10-1.22]	Illumina [870065]	N
604	chr6_cox_hap2	2533287	2533288	rs2523864	25813999	Jeong S	2015-04-01	Invest Ophthalmol Vis Sci	Identification of a Novel Mucin Gene HCG22 Associated with Steroid-Induced Ocular Hypertension.	Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)	64 European ancestry individuals	49 European ancestry individuals	6p21.33	HCG22, HLA-A, HLA-B, MUC22	rs2523864-T	0.412	5E-9				Illumina [1545328]	N
604	chr6_cox_hap2	2539307	2539308	rs9262631	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9262631-A	0.063	6E-19	(trend)	7.09	[4.32-11.63] (allelic)	Affymetrix [522980]	N
604	chr6_cox_hap2	2539514	2539515	rs9262632	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs9262632-G	0.10	1E-8	(AA)	3.1	[NR]	Illumina [1384048] (imputed)	N
604	chr6_cox_hap2	2544828	2544829	rs2517510	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs2517510-T		4E-13	(WBC)	0.0129	[0.0094-0.0164] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
604	chr6_cox_hap2	2572866	2572867	rs4947296	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	HCG22	rs4947296-?	NR	1E-11		2.57	[1.96-3.37]	Affymetrix [661736]	N
604	chr6_cox_hap2	2572866	2572867	rs4947296	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	MUC21, C6orf15	rs4947296-C	0.14	4E-51		1.77	[1.65-1.91]	Illumina [486049]	N
604	chr6_cox_hap2	2573028	2573029	rs3130544	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs3130544-A	NR	5E-7	(WBC)	0.0189	[0.011-0.026] unit decrease	Illumina [544917]	N
604	chr6_cox_hap2	2573028	2573029	rs3130544	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	6p21.33	NR	rs3130544-A	0.13	2E-90		5.64	[4.77-6.67]	Illumina [274256]	N
604	chr6_cox_hap2	2573028	2573029	rs3130544	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3130544-A	0.1238	9E-58		3.34	[NR]	Illumina [242824]	N
604	chr6_cox_hap2	2584225	2584226	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		5E-6				NR [~ 3000000] (imputed)	N
604	chr6_cox_hap2	2584225	2584226	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		2E-6				NR [~ 3000000] (imputed)	N
604	chr6_cox_hap2	2588742	2588743	rs6457327	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.33	C6orf15	rs6457327-C	0.56	7E-6	(FL)	1.47	[1.27-1.72]	Illumina [312768]	N
604	chr6_cox_hap2	2588742	2588743	rs6457327	19620980	Skibola CF	2009-07-20	Nat Genet	Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.	Follicular lymphoma	189 European ancestry cases, 592 European controls	456 European ancestry cases, 2,785 European ancestry controls	6p21.33	STG, PSORS1	rs6457327-C	0.62	5E-11		1.69	[1.43-2.00]	Illumina [~ 500000]	N
604	chr6_cox_hap2	2595908	2595909	rs2233956	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs2233956-G	0.1813	6E-48		2.77	[NR]	Illumina [242824]	N
604	chr6_cox_hap2	2600470	2600471	rs3094212	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	6p21.33	PSORS1C1, CDSN	rs3094212-C	0.35	7E-9		0.07	[0.046-0.094] unit increase	Illumina [561583]	N
604	chr6_cox_hap2	2606672	2606673	rs9263688	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9263688-G	0.053	5E-21	(trend)	8.06	[4.86-13.37] (allelic)	Affymetrix [522980]	N
604	chr6_cox_hap2	2608293	2608294	rs3815087	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	PSORS1C1	rs3815087-A	0.21	3E-7		1.53	[1.29-1.80]	Illumina [268914]	N
604	chr6_cox_hap2	2608293	2608294	rs3815087	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	CDSN	rs3815087-?	NR	8E-8	(progression)			Illumina [NR]	N
604	chr6_cox_hap2	2612019	2612020	rs3130559	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1	rs3130559-T	0.2	8E-9	(SP-D)			Illumina [588352]	N
604	chr6_cox_hap2	2614296	2614297	rs4959053	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	PSORS1C1	rs4959053-?	.11	2E-20		4.38	[3.20-5.99]	Affymetrix [661736]	N
604	chr6_cox_hap2	2615663	2615664	rs3823418	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	PSORS1C1	rs3823418-A	0.15	2E-7		0.026	[0.0084-0.0436] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
604	chr6_cox_hap2	2616395	2616396	rs3130564	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	PSORS1C1	rs3130564-T	0.163	4E-10		2.05	[1.56-2.70]	Affymetrix [906600]	N
604	chr6_cox_hap2	2616395	2616396	rs3130564	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	PSORS1C1	rs3130564-T	0.1934	1E-42		2.62	[NR]	Illumina [242824]	N
604	chr6_cox_hap2	2617685	2617686	rs3132565	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs3132565-A	NR	1E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
604	chr6_cox_hap2	2620989	2620990	rs3130573	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.33	PSORS1C1	rs3130573-G	0.32	6E-10		1.25	[1.17-1.35]	Illumina [489814]	N
604	chr6_cox_hap2	2621180	2621181	rs1265097	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	PSORS1C1, PSORS1C2	rs1265097-A	0.115	2E-32		0.059	[0.049-0.069] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
605	chr6_cox_hap2	2621908	2621909	rs1265093	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1, CCHCR1	rs1265093-A	0.26	6E-9	(SP-D)			Illumina [588352]	N
605	chr6_cox_hap2	2621979	2621980	rs2285803	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	6p21.33	PSORS1C1, CCHCR1, TCF19, POU5F1, CDSN	rs2285803-A	0.32	1E-10		1.192	[1.13-1.26]	Illumina [414804]	N
605	chr6_cox_hap2	2626115	2626116	rs9263739	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.33	HLA	rs9263739-T	0.15	4E-67		2.73	[2.43-3.07]	Illumina [513923]	N
605	chr6_cox_hap2	2632764	2632765	rs1265112	21810746	Chantarangsu S	2011-08-01	Clin Infect Dis	Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.	Nevirapine-induced rash	72 Thai ancestry nevirapine-induced rash HIV cases, 77 Thai ancestry nevirapine-tolerant rash HIV cases	88 Thai ancestry nevirapine-induced rash HIV cases, 145 Thai ancestry nevirapine-tolerant HIV cases	6p21.33	CCHCR1	rs1265112-G	0.06	1E-8		4.36	[2.58-7.36]	Illumina [499730]	N
605	chr6_cox_hap2	2633256	2633257	rs130067	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	6p21.33	CCHCR1	rs130067-G	0.21	3E-8		1.05	[1.02-1.09]	NR [2600000] (imputed)	N
605	chr6_cox_hap2	2644061	2644062	rs7750641	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	TCF19	rs7750641-T	0.1263	3E-58		3.35	[NR]	Illumina [242824]	N
605	chr6_cox_hap2	2645344	2645345	rs1419881	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	TCF19	rs1419881-G	0.55	3E-7		1.12	[1.08-1.18]	Illumina [3680900] (imputed)	N
605	chr6_cox_hap2	2645344	2645345	rs1419881	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	TCF19	rs1419881-?	NR	1E-18		1.37	[1.23-1.52]	Illumina [719265]	N
605	chr6_cox_hap2	2649655	2649656	rs3130931	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130931-C	0.69	8E-7		1.54	[1.29-1.84]	Illumina [268914]	N
605	chr6_cox_hap2	2651219	2651220	rs3130501	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130501-G	0.74	2E-8		1.74	[1.43-2.13]	Illumina [268914]	N
605	chr6_cox_hap2	2651480	2651481	rs3132524	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p21.33	TCF19, POU5F1	rs3132524-G		4E-9		1.07	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
605	chr6_cox_hap2	2654221	2654222	rs879882	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs879882-?	NR	2E-7	(Conditioned on rs2256183)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
605	chr6_cox_hap2	2654816	2654817	rs1265159	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs1265159-T	0.2191	4E-37		2.42	[NR]	Illumina [242824]	N
605	chr6_cox_hap2	2657014	2657015	rs3094188	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.33	PSORS1C3	rs3094188-C	0.280	7E-7		1.61	[1.33-1.94]	Illumina [4929034] (imputed)	N
605	chr6_cox_hap2	2657014	2657015	rs3094188	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3094188-A	0.63	3E-8		1.59	[1.34-1.88]	Illumina [268914]	N
605	chr6_cox_hap2	2658351	2658352	rs3131018	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	PSORS1C3	rs3131018-C	0.625	4E-16	(EA)	2.1	[NR]	Illumina [1384048] (imputed)	N
605	chr6_cox_hap2	2670565	2670566	rs1265181	19169255	Zhang XJ	2009-01-25	Nat Genet	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	Psoriasis	1,139 Han Chinese ancestry cases, 1,132 Han Chinese ancestry controls	5,721 Chinese ancestry cases, 7,340 Chinese ancestry controls	6p21.33	MHC	rs1265181-?	NR	2E-208		22.62		Illumina [494902]	N
605	chr6_cox_hap2	2682801	2682802	rs6903896	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	6p21.33	NR	rs6903896-?	NR	6E-7	(sneeze)			Illumina [535076]	N
605	chr6_cox_hap2	2685297	2685298	rs9263871	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.33	HCG27	rs9263871-G	NR	9E-6	(Dominant)	1.7	[1.35-2.13]	Affymetrix, Illumina [1621689] (imputed)	N
605	chr6_cox_hap2	2698962	2698963	rs3869109	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	6p21.33	HCG27, HLA-C	rs3869109-G	NR	1E-9		1.14	[NR]	Affymetrix [~ 5000000] (imputed)	N
605	chr6_cox_hap2	2700793	2700794	rs9263963	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9263963-T	0.113293342563644	1E-6	(IGP23)	0.2567	[0.15-0.36] unit increase	Illumina [~ 2500000] (imputed)	N
605	chr6_cox_hap2	2712274	2712275	rs3130941	24324648	Yatagai Y	2013-12-04	PLoS One	Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.	IgE levels	967 Japanese ancestry individuals, 213 Japanese ancestry asthmatic individuals	1,894 Japanese ancestry individuals, 580 Japanese ancestry asthmatic individuals	6p21.33	HCG27, HLA-C	rs3130941-C	0.25	1E-10		0.098	unit increase	Illumina [479940]	N
605	chr6_cox_hap2	2734916	2734917	rs3095254	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	6p21.33	MHC	rs3095254-C	0.461	8E-9	(Japanese)	0.035	[0.023-0.047] unit increase	Illumina [NR] (imputed)	N
605	chr6_cox_hap2	2734916	2734917	rs3095254	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs3095254-C	0.46	6E-11	(monocyte count)	0.074	[0.05-0.09] unit increase	Illumina [2178645] (imputed)	N
605	chr6_cox_hap2	2745349	2745350	rs3130542	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.16	9E-7		1.17	[1.10-1.24]	Illumina [3680900] (imputed)	N
605	chr6_cox_hap2	2745349	2745350	rs3130542	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.13	9E-14		1.33	[1.23-1.44]	Illumina [490610]	N
606	chr6_cox_hap2	2753685	2753686	rs2074488	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	HLA-C	rs2074488-T	0.13	2E-10	(SP-D)			Illumina [588352]	N
606	chr6_cox_hap2	2754363	2754364	rs13191343	20953186	Huffmeier U	2010-10-17	Nat Genet	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	Psoriatic arthritis	572 European ancestry cases, 888 European ancestry controls	Up to 1,761 European ancestry cases, 3,727 European ancestry controls	6p21.33	HLA-C	rs13191343-T	0.13	2E-72		2.37	[2.16-2.61]	Affymetrix [1585307] (imputed)	N
606	chr6_cox_hap2	2758209	2758210	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	6E-10		0.23	[NR] unit increase	Illumina [12100000] (imputed)	N
606	chr6_cox_hap2	2758209	2758210	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	4E-10		0.25	[NR] unit increase	Illumina [12100000] (imputed)	N
606	chr6_cox_hap2	2760441	2760442	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.717	8E-6	(Japanese)	0.013	[0.0071-0.0189] unit decrease	Illumina [NR] (imputed)	N
606	chr6_cox_hap2	2760441	2760442	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.348	1E-8	(EA)	0.017	[0.011-0.023] unit decrease	Illumina [NR] (imputed)	N
606	chr6_cox_hap2	2760441	2760442	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-?	NR	3E-14		0.0139	[0.010-0.017] unit decrease	Illumina [NR] (imputed)	N
606	chr6_cox_hap2	2765635	2765636	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	6E-21	(CD8)	0.31	[0.25-0.37] SD decrease	Illumina [529721]	N
606	chr6_cox_hap2	2765635	2765636	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	2E-28	(CD4:CD8)	0.37	[0.31-0.43] SD increase	Illumina [529721]	N
606	chr6_cox_hap2	2766164	2766165	rs12191877	20953188	Ellinghaus E	2010-10-17	Nat Genet	Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.	Psoriasis	472 European ancestry cases, 1,146 European ancestry controls	2,668, European ancestry cases, 762 French Canadian founder population cases, 2,585 cases, 3,485 European ancestry controls, 994 French Canadian founder population controls, 2,412 controls	6p21.33	HLA-C	rs12191877-?	NR	4E-32		2.79	[2.35-3.33]	Illumina [2339118] (imputed)	N
606	chr6_cox_hap2	2766164	2766165	rs12191877	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	6p21.33	HLA-C	rs12191877-T	0.15	1E-100		2.64	[NR]	Perlegen [~ 2500000] (imputed)	N
606	chr6_cox_hap2	2772076	2772077	rs9468925	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA	rs9468925-?	0.617	2E-33		1.35	[1.28-1.41]	Illumina [493909]	N
606	chr6_cox_hap2	2776986	2776987	rs2894207	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.33	HLA-C, HLA-B	rs2894207-?	0.82	3E-33		1.64	[1.52-1.75]	Illumina [464328]	N
606	chr6_cox_hap2	2778725	2778726	rs2247056	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	HLA-C, HLA-B	rs2247056-T	0.27	4E-12		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
606	chr6_cox_hap2	2778725	2778726	rs2247056	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	6p21.33	HLA	rs2247056-T	0.25	2E-15		2.99	[2.17-3.81] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
606	chr6_cox_hap2	2784951	2784952	rs9461688	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6p21.33	HLA-C	rs9461688-?	0.31	4E-6	(IL18)			Illumina [496032]	N
606	chr6_cox_hap2	2785496	2785497	rs6457374	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	HLA-C	rs6457374-T	0.73	8E-35		0.041	[0.035-0.047] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
606	chr6_cox_hap2	2785556	2785557	rs9368677	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.33	HLA-C	rs9368677-G	0.798	1E-17		1.36	[1.27-1.46]	Illumina [606164]	N
606	chr6_cox_hap2	2787615	2787616	rs9264942	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.33	NR	rs9264942-?	NR	5E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
606	chr6_cox_hap2	2787615	2787616	rs9264942	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.33	PSORS1C1, NFKBIL1, HLA-C, MICB	rs9264942-C	0.378	5E-28		1.145	[1.107-1.184]	Affymetrix, Illumina [1230000] (imputed)	N
606	chr6_cox_hap2	2787615	2787616	rs9264942	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-C	rs9264942-C	0.34	3E-35	(EA)	2.9	[NR]	Illumina [1384048] (imputed)	N
606	chr6_cox_hap2	2787615	2787616	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-C	0.412	6E-32	(setpoint)	5.3	[NR] % increase	Illumina [NR]	N
606	chr6_cox_hap2	2787615	2787616	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-?	NR	6E-12	(progression)			Illumina [NR]	N
606	chr6_cox_hap2	2787790	2787791	rs10484554	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6p21.33	HLA-C	rs10484554-?	NR	4E-214		4.66	[4.23-5.13]	Illumina [535475]	N
606	chr6_cox_hap2	2787790	2787791	rs10484554	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	HLA-C	rs10484554-T	0.13	6E-8				Illumina [291119]	N
606	chr6_cox_hap2	2787790	2787791	rs10484554	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs10484554-T	0.15	2E-39		2.8	[2.40-3.30]	Illumina [305983]	N
606	chr6_cox_hap2	2824997	2824998	rs3134792	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3134792-C	0.114	6E-72		3.93	[NR]	Illumina [242824]	N
606	chr6_cox_hap2	2824997	2824998	rs3134792	18364390	Capon F	2008-03-25	Hum Mol Genet	Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.	Psoriasis	318 European ancestry cases, 288 European ancestry controls	2,361 European ancestry cases, 1,927 European ancestry controls	6p21.33	HLA-C	rs3134792-?	NR	1E-9				Illumina [~ 408000]	N
606	chr6_cox_hap2	2833226	2833227	rs2442719	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.33	HLA-C, HLA-B	rs2442719-A	0.4161	8E-7	(Han)	0.3298	unit decrease	Illumina [up to 528294]	N
606	chr6_cox_hap2	2833955	2833956	rs2596500	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs2596500-A	NR	8E-20		1.18	[NR]	Illumina [7158791] (imputed)	N
606	chr6_cox_hap2	2835055	2835056	rs3819299	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.33	HLA-B	rs3819299-G	NR	9E-10		5.048	[3.43-6.66] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_cox_hap2	2835247	2835248	rs2523608	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs2523608-A	0.59	9E-9		0.02	[0.012-0.028] unit increase	Affymetrix [2500000] (imputed)	N
606	chr6_cox_hap2	2835247	2835248	rs2523608	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523608-G	0.326	9E-20	(AA)	2.6	[NR]	Illumina [1384048] (imputed)	N
606	chr6_cox_hap2	2835247	2835248	rs2523608	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	6p21.33	HLA-B	rs2523608-?	0.37	3E-6				Illumina [1212217]	N
606	chr6_cox_hap2	2835478	2835479	rs2523607	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	6p21.33	HLA-B	rs2523607-A	0.120	2E-10		1.32	[1.21-1.44]	Illumina [8363971] (imputed)	N
606	chr6_cox_hap2	2836571	2836572	rs41549217	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	6p21.33	HLA-B, MICA, HCP5, HCG26	rs41549217-T	0.0288	2E-7		4.6582	[4.08-5.24]	Illumina [8809853] (imputed)	N
606	chr6_cox_hap2	2839749	2839750	rs2523590	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523590-C	0.164	2E-13	(AA)	2.4	[NR]	Illumina [1384048] (imputed)	N
606	chr6_cox_hap2	2840386	2840387	rs9378249	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	6p21.33	NR	rs9378249-?	NR	1E-8	(addtive)			Affymetrix [NR]	N
606	chr6_cox_hap2	2843939	2843940	rs2523557	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	HLA-B, MICA	rs2523557-C	0.13	9E-35		7.33	[5.34-10.07]	Illumina [1392644]	N
606	chr6_cox_hap2	2845420	2845421	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	7E-6		0.44	[0.24-0.64] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
606	chr6_cox_hap2	2845420	2845421	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	2E-7		0.29	[0.17-0.41] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
606	chr6_cox_hap2	2848018	2848019	rs17193122	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA-B*38:02	rs17193122-A	0.047	4E-27	(trend)	9.59	[5.78-15.90] (allelic)	Affymetrix [522980]	N
606	chr6_cox_hap2	2848583	2848584	rs2922994	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.33	HLA-B, TCF19	rs2922994-G	0.113	2E-9		1.64	[1.39-1.92]	Illumina [611856]	N
606	chr6_cox_hap2	2848782	2848783	rs7743761	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	6p21.33	MHC	rs7743761-?	NR	5E-304				Illumina [288662]	N
606	chr6_cox_hap2	2849100	2849101	rs9266406	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	MICA, DHFRP2, MICB	rs9266406-?	.40	2E-10		2.29	[1.77-2.95]	Affymetrix [661736]	N
606	chr6_cox_hap2	2859483	2859484	rs9266629	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	FGFR3P	rs9266629-C	0.21	4E-10	(SP-D)			Illumina [588352]	N
606	chr6_cox_hap2	2860120	2860121	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	7E-9		1.09	[1.06-1.13]	Affymetrix, Illumina [2579389] (imputed)	N
606	chr6_cox_hap2	2860120	2860121	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	1E-6	(AA)	1.11	[1.07-1.16]	Affymetrix, Illumina [2579389] (imputed)	N
606	chr6_cox_hap2	2863381	2863382	rs1521	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	HLA-B	rs1521-T	0.79	2E-65		1.92	[1.78-2.08]	Illumina [486049]	N
606	chr6_cox_hap2	2864790	2864791	rs9266772	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.33	MICA, HLA-C	rs9266772-C	0.1882	3E-12		0.104	[0.075-0.133] unit increase	Illumina [2400000] (imputed)	N
606	chr6_cox_hap2	2866006	2866007	rs2596565	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.33	MICA, HLA-B	rs2596565-?		9E-9		1.4	[NR]	Illumina [452367]	N
606	chr6_cox_hap2	2866859	2866860	rs6932730	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.33	MICA, HLA-C, HLA-B, MICB	rs6932730-T	0.82	4E-8		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_cox_hap2	2867237	2867238	rs13437082	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	6p21.33	HLA-B	rs13437082-?	0.13	5E-8		0.07	[0.04-0.10] s.d. decrease	Illumina [229216]	N
606	chr6_cox_hap2	2872937	2872938	rs7751505	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.33	MICA, VARS2	rs7751505-C	0.28	4E-6	(Pubertal growth)	0.07	[0.041-0.099] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_cox_hap2	2874994	2874995	rs16899524	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs16899524-C	0.93	1E-8		0.04	[0.026-0.054] unit increase	Affymetrix [2500000] (imputed)	N
606	chr6_cox_hap2	2878483	2878484	rs4349859	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	6p21.33	HLA-B	rs4349859-A	0.04	1E-200	(less than)			Illumina [2223620] (imputed)	N
606	chr6_cox_hap2	2879291	2879292	rs2596542	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.33	MICA	rs2596542-A	0.33	4E-13		1.39	[1.27-1.52]	Illumina [432703]	N
607	chr6_cox_hap2	2886960	2886961	rs2857281	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	MICA	rs2857281-C	0.081	1E-37		11.92	[8.16-17.42]	Illumina [1392644]	N
607	chr6_cox_hap2	2890286	2890287	rs12175489	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.33	HCP5, HLA-B	rs12175489-A	0.15	2E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
607	chr6_cox_hap2	2893228	2893229	rs2256183	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs2256183-A	0.45	8E-29		0.04	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
607	chr6_cox_hap2	2903109	2903110	rs2516448	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.33	MICA	rs2516448-?	NR	4E-18		1.42	[1.31-1.54]	Illumina [632668]	N
607	chr6_cox_hap2	2904100	2904101	rs4418214	23935489	McLaren PJ	2013-07-25	PLoS Pathog	Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls.	HIV-1 susceptibility	6,334 European ancestry cases, 7,247 European ancestry controls	NA	6p21.33	HLA-C, HLA-B	rs4418214-C	NR	4E-11		1.52		Affymetrix, Illumina [~ 8000000] (imputed)	N
607	chr6_cox_hap2	2904100	2904101	rs4418214	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	MICA	rs4418214-C	0.075	1E-34	(EA)	4.4	[NR]	Illumina [1384048] (imputed)	N
607	chr6_cox_hap2	2918250	2918251	rs2596466	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	MICA	rs2596466-C	0.07	2E-12		0.05	[0.034-0.066] unit decrease	Affymetrix [2500000] (imputed)	N
607	chr6_cox_hap2	2920461	2920462	rs9469003	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	HCP5	rs9469003-C	0.15	2E-9		1.73	[1.44-2.08]	Illumina [268914]	N
607	chr6_cox_hap2	2920898	2920899	rs2524276	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	6p21.33	intergenic	rs2524276-?	NR	6E-6				NR [~ 2000000]	N
607	chr6_cox_hap2	2934235	2934236	rs9267119	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs9267119-C	NR	1E-6		1.098901	[NR]	Illumina [7158791] (imputed)	N
607	chr6_cox_hap2	2939580	2939581	rs3094228	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6p21.33	NR	rs3094228-C		4E-7		1.23	[1.13-1.33]	Affymetrix, Illumina [up to 3437411] (imputed)	N
607	chr6_cox_hap2	2941344	2941345	rs2255221	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs2255221-T	0.137	4E-14	(AA)	2.7	[NR]	Illumina [1384048] (imputed)	N
607	chr6_cox_hap2	2941433	2941434	rs2395029	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2395029-G	0.032	1E-25	(EA)	5.3	[NR]	Illumina [1384048] (imputed)	N
607	chr6_cox_hap2	2941433	2941434	rs2395029	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HCP5, HLA-B	rs2395029-G	0.048	5E-35	(setpoint)	5.8	[NR] % increase	Illumina [NR]	N
607	chr6_cox_hap2	2941433	2941434	rs2395029	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HCP5, HLA-B	rs2395029-?	NR	1E-11	(progression)			Illumina [NR]	N
607	chr6_cox_hap2	2941433	2941434	rs2395029	19483685	Daly AK	2009-05-31	Nat Genet	HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.	Drug-induced liver injury (flucloxacillin)	58 European ancestry cases, 282 European ancestry controls	NA	6p21.33	HCP5, HLA-B	rs2395029-?	0.05	9E-33		45.0	[19.4-105]	Illumina [866399]	N
607	chr6_cox_hap2	2941433	2941434	rs2395029	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	MCCD1, BAT1, TNF, LTB, HCP5, MICB	rs2395029-G	0.03	3E-19		3.47	[2.39-5.04]	Illumina [291119]	N
607	chr6_cox_hap2	2941433	2941434	rs2395029	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs2395029-C	0.03	2E-26		4.1	[3.10-5.30]	Illumina [305983]	N
607	chr6_cox_hap2	2943764	2943765	rs3094604	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	intergenic	rs3094604-A	0.833	1E-7		1.39	[1.23-1.57]	Illumina [8129524] (imputed)	N
607	chr6_cox_hap2	2948043	2948044	rs2596449	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs2596449-A	0.047	2E-13	(trend)	6.35	[3.68-10.96] (allelic)	Affymetrix [522980]	N
607	chr6_cox_hap2	2949735	2949736	rs1055569	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Psychotic symptoms and prion disease	Up to 170 cases, 5,200 controls	NA	6p21.33	HCG26	rs1055569-?	0.291	3E-6		2.36	[1.66-3.35]	Illumina [518938]	N
607	chr6_cox_hap2	2950322	2950323	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	3E-9		0.0069	[0.0046-0.0092] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
607	chr6_cox_hap2	2950322	2950323	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	1E-9		0.0079	[0.0054-0.0105] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
607	chr6_cox_hap2	2956453	2956454	rs2248462	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.33	MICB	rs2248462-?	NR	7E-16	(Total cHL)	1.64	[1.45-1.85]	Illumina [502514]	N
607	chr6_cox_hap2	2958519	2958520	rs3749946	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	3.8-1, HCG26	rs3749946-A	0.07	2E-15		1.97	[1.66-2.33]	Illumina [480391]	N
607	chr6_cox_hap2	2958633	2958634	rs3099844	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	6p21.33	HCG26, MICB	rs3099844-A	0.08	2E-8	(HDL)	0.15	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
607	chr6_cox_hap2	2958633	2958634	rs3099844	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	6p21.33	NFKBIL1, LTA, AIF1, TNF, LTB	rs3099844-?	0.11	5E-10		3.34	[2.29-4.89]	Illumina [346110]	N
607	chr6_cox_hap2	2982390	2982391	rs2855812	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	MICB	rs2855812-T	NR	2E-7	(FEV1)	0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_cox_hap2	2985156	2985157	rs3132468	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	6p21.33	MICB	rs3132468-?	0.13	4E-11		1.34	[1.23-1.46]	Illumina [481342]	N
607	chr6_cox_hap2	2990969	2990970	rs2516399	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs2516399-A	0.81	2E-12	(eosinophil count)	0.105	[0.08-0.14] unit increase	Illumina [2178645] (imputed)	N
607	chr6_cox_hap2	3009264	3009265	rs3853601	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	6p21.33	BAT1	rs3853601-G	0.12	2E-6		1.13	[1.08-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3015141	3015142	rs2734583	21912425	Tohkin M	2011-09-13	Pharmacogenomics J	A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.	Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)	14 Japanese ancestry cases, 991 Japanese ancestry controls	NA	6p21.33	PSORS1C1, PSORS1C3, BAT1, HLA-C, MICC, PPIAP9, POLR2LP, CCHCR1, TCF19, HLA-B*5801, HCP5, POU5F1	rs2734583-?	0.0055	2E-8		66.8	[19.8-225.0]	Illumina [890321]	N
608	chr6_cox_hap2	3051923	3051924	rs1799964	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6p21.33	HLA-DQA2, LTA, TNF, LST1, LTB	rs1799964-C	0.209	4E-11		1.19	[1.13-1.25]	Affymetrix, Illumina [953241] (imputed)	N
608	chr6_cox_hap2	3067402	3067403	rs11575839	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-C	rs11575839-A	0.05	1E-54	(Serum level of C4)	0.23	[0.21-0.25] g/L decrease	Illumina [1940245] (imputed)	N
608	chr6_cox_hap2	3078075	3078076	rs2857595	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	NFKBIL1, LTA, NCR3	rs2857595-T	NR	2E-23		2.3765		Illumina [514008]	N
608	chr6_cox_hap2	3078075	3078076	rs2857595	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	6p21.33	AIF1, HLA	rs2857595-?	0.50	2E-15		1.3	[1.22-1.39]	Affymetrix [662108]	N
608	chr6_cox_hap2	3078075	3078076	rs2857595	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	NCR3	rs2857595-?	NR	8E-8	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3078075	3078076	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	2E-10	(FEV1/FVC)	0.037	[0.025-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3078075	3078076	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	1E-6	(FEV1)	0.025	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3082563	3082564	rs2844479	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	AIF1	rs2844479-A	0.66	3E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
608	chr6_cox_hap2	3082563	3082564	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393698650943396	4E-6	(IGP60)	0.151	[0.087-0.215] unit increase	Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3082563	3082564	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393631380483438	4E-6	(IGP6)	0.1506	[0.086-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3082563	3082564	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393516127507802	9E-6	(IGP61)	0.1445	[0.081-0.208] unit increase	Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3082563	3082564	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393054780607685	7E-6	(IGP58)	0.1476	[0.083-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3082563	3082564	rs2844479	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	6p21.33	AIF1, NCR3	rs2844479-T	0.68	2E-8		3.58	[2.33-4.83] percentage SD increase	Illumina [305846]	N
608	chr6_cox_hap2	3084897	3084898	rs9348876	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	6p21.33	AIF1	rs9348876-T	0.06	3E-6		1.41	[1.22-1.63]	Illumina [508934]	N
608	chr6_cox_hap2	3098000	3098001	rs2857693	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	BAT2	rs2857693-T	0.38	3E-29		0.034	[0.028-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
608	chr6_cox_hap2	3100511	3100512	rs2736172	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	6p21.33	TNF, MICB	rs2736172-?		4E-6				Affymetrix [545513]	N
608	chr6_cox_hap2	3105496	3105497	rs1046080	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6p21.33	PRRC2A	rs1046080-A	0.74	1E-14	(X-11444/X-11470)	0.027	[0.019-0.035] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
608	chr6_cox_hap2	3111458	3111459	rs3115663	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT2	rs3115663-G	0.1812	7E-57		3.04	[NR]	Illumina [242824]	N
608	chr6_cox_hap2	3112582	3112583	rs1046089	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.33	PRRC2A, BAG6	rs1046089-G	0.34	4E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
608	chr6_cox_hap2	3112582	3112583	rs1046089	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	6p21.33	NR	rs1046089-A	0.3492	4E-11		0.1919	[0.13-0.25] years increase	NR [NR]	N
608	chr6_cox_hap2	3112582	3112583	rs1046089	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	6p21.33	PRRC2A	rs1046089-A	0.353	2E-16		0.213	[0.16-0.26] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
608	chr6_cox_hap2	3125984	3125985	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	2E-11		0.376	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3125984	3125985	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	1E-10		0.054	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3125984	3125985	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	3E-11		0.228	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr6_cox_hap2	3130137	3130138	rs3117582	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p21.33	APOM, BAT3	rs3117582-C	0.10	5E-12		1.22	[1.15-1.29]	Illumina [515922]	N
608	chr6_cox_hap2	3130137	3130138	rs3117582	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	6p21.33	BAT3	rs3117582-?	NR	4E-10		1.24	[1.16-1.33]	Illumina [511919]	N
608	chr6_cox_hap2	3130137	3130138	rs3117582	18978787	Wang Y	2008-11-02	Nat Genet	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.	Lung cancer	5,095 European ancestry cases, 5,200 European ancestry cases	2,448 European ancestry cases, 2,983 European ancestry controls	6p21.33	BAT3, MSH5	rs3117582-C	NR	5E-10		1.24	[1.16-1.33]	Illumina [223891]	N
608	chr6_cox_hap2	3132223	3132224	rs805297	21844665	Hu HJ	2011-08-16	Exp Mol Med	Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis.	Rheumatoid arthritis	100 Korean ancestry cases, 600 Korean ancestry controls	578 Korean ancestry cases, 711 Korean ancestry controls	6p21.33	APOM	rs805297-A	0.36	3E-10		1.56	[1.36-1.80]	Affymetrix [300909]	N
608	chr6_cox_hap2	3141753	3141754	rs3130618	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	GPANK1	rs3130618-C	0.79	2E-7		1.34	[1.20-1.49]	Illumina [8129524] (imputed)	N
608	chr6_cox_hap2	3141753	3141754	rs3130618	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT4	rs3130618-A	0.1811	2E-56		3.03	[NR]	Illumina [242824]	N
609	chr6_cox_hap2	3146361	3146362	rs9267531	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	CSNK2B	rs9267531-?	NR	8E-8				Affymetrix [up to 700598]	N
609	chr6_cox_hap2	3146361	3146362	rs9267531	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	CSNK2B, MSH5, MICA, MICB	rs9267531-G	0.1	3E-14		2.62	[1.93-3.54]	Affymetrix [906600]	N
609	chr6_cox_hap2	3230626	3230627	rs3131379	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	MSH5	rs3131379-?	NR	8E-8				Affymetrix [up to 700598]	N
609	chr6_cox_hap2	3230626	3230627	rs3131379	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	6p21.33	HLA region	rs3131379-A	0.1	2E-52		2.36	[2.11-2.64]	Illumina [317501]	N
610	chr6_cox_hap2	3288109	3288110	rs2075799	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2075799-T	0.20	6E-97	(Serum level of C4)	0.17	[0.15-0.19] g/L decrease	Illumina [1940245] (imputed)	N
610	chr6_cox_hap2	3312040	3312041	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824607758652095	1E-6	(IGP41)	0.1858	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
610	chr6_cox_hap2	3312040	3312041	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824401248864668	4E-6	(IGP1)	0.1774	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
610	chr6_cox_hap2	3312040	3312041	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.823257144469526	3E-7	(IGP19)	0.1964	[0.12-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
610	chr6_cox_hap2	3312116	3312117	rs9368699	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	SNORD52	rs9368699-?	NR	5E-8	(progression)			Illumina [NR]	N
610	chr6_cox_hap2	3312704	3312705	rs17201248	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs17201248-T	0.092	3E-7	(trend)	3.48	[2.09-5.81] (allelic)	Affymetrix [522980]	N
610	chr6_cox_hap2	3336451	3336452	rs67682613	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs67682613-G	NR	7E-19		1.1494253	[NR]	Illumina [7158791] (imputed)	N
610	chr6_cox_hap2	3346819	3346820	rs11966200	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA-C, HLA-B	rs11966200-A	0.06	1E-48		1.9	[1.74-2.07]	Illumina [493909]	N
610	chr6_cox_hap2	3348466	3348467	rs494620	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	6p21.33	NR	rs494620-?	NR	5E-7		0.3	[0.18-0.42] years increase	Illumina [315418]	N
610	chr6_cox_hap2	3352351	3352352	rs12661281	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	6p21.33	SLC44A4	rs12661281-?	NR	1E-11		1.27	[NR]	Illumina [4471719] (imputed)	N
610	chr6_cox_hap2	3353677	3353678	rs2736428	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	6p21.33	SLC44A4	rs2736428-T	NR	3E-6		0.05	[0.03-0.07] kb increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
610	chr6_cox_hap2	3360987	3360988	rs652888	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	EHMT2	rs652888-G	0.24	1E-6		1.14	[1.08-1.19]	Illumina [3680900] (imputed)	N
610	chr6_cox_hap2	3360987	3360988	rs652888	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	EHMT2	rs652888-?	NR	7E-13		1.38	[1.22-1.57]	Illumina [719265]	N
610	chr6_cox_hap2	3360987	3360988	rs652888	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	EHMT2	rs652888-C	0.2021	3E-46		2.71	[NR]	Illumina [242824]	N
610	chr6_cox_hap2	3377006	3377007	rs9267663	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	6p21.33	EHMT2	rs9267663-T	NR	6E-6		0.29	[0.16-0.42] unit decrease	Illumina [628922]	N
610	chr6_cox_hap2	3380079	3380080	rs558702	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.33	C2	rs558702-A	0.1	8E-21		2.276	[2.097-2.47]	Illumina [NR]	N
610	chr6_cox_hap2	3380609	3380610	rs9267665	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.33	HLA	rs9267665-?	NR	1E-17		2.05	[1.64-2.57]	Illumina [455508]	N
610	chr6_cox_hap2	3393435	3393436	rs9267673	21105107	Clifford RJ	2010-12-01	Hepatology	Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.	Hepatocellular carcinoma	180 Korean ancestry cases, 271 Korean ancestry controls	206 Korean ancestry cases, 416 East Asian ancestry controls,	6p21.33	C2	rs9267673-?	0.08	2E-6		1.97	[1.47-2.64]	Affymetrix [658897]	N
611	chr6_cox_hap2	3413559	3413560	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	C2	rs9332739-?	0.955	1E-6		2.63	[1.79-3.85]	Affymetrix, Illumina [6036699] (imputed)	N
611	chr6_cox_hap2	3413559	3413560	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	C2	rs9332739-?	0.955	2E-8		2.08	[1.61-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
611	chr6_cox_hap2	3413559	3413560	rs9332739	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	C2	rs9332739-?	0.96	2E-23		2.17	[NR]	Affymetrix [6036699] (imputed)	N
611	chr6_cox_hap2	3415765	3415766	rs9380272	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs9380272-A	0.012	2E-8		4.31	[2.76-6.87]	Illumina [~ 2500000] (imputed)	N
611	chr6_cox_hap2	3423934	3423935	rs12614	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	CFB	rs12614-T	0.92	1E-34		1.89	[1.69-2.08]	Illumina [3680900] (imputed)	N
611	chr6_cox_hap2	3423935	3423936	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	CFB	rs641153-?	0.899	2E-9		2.13	[1.69-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
611	chr6_cox_hap2	3423935	3423936	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	CFB	rs641153-?	0.899	1E-17		2.22	[1.85-2.63]	Affymetrix, Illumina [6036699] (imputed)	N
611	chr6_cox_hap2	3423935	3423936	rs641153	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	CFB	rs641153-?	0.90	6E-31		1.85	[NR]	Affymetrix [6036699] (imputed)	N
611	chr6_cox_hap2	3423935	3423936	rs641153	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	6p21.33	CFB, C2	rs641153-?	NR	2E-20				Affymetrix [632932]	N
611	chr6_cox_hap2	3426706	3426707	rs541862	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.33	CFB	rs541862-T	0.99	9E-17		1.89	[1.61-2.17]	Illumina [2272849] (imputed)	N
611	chr6_cox_hap2	3427295	3427296	rs4151657	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	CFB, BAT2, MSH5, HSPA1L, SLC44A4	rs4151657-G	0.29	5E-14		1.54	[1.38-1.73]	Illumina [480391]	N
611	chr6_cox_hap2	3428615	3428616	rs1270942	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	BAT2, HSPA1L, CFB, TNXB, NOTCH4	rs1270942-C	NR	5E-25		3.0494		Illumina [514008]	N
611	chr6_cox_hap2	3429672	3429673	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (extreme sampling)	720 European ancestry grade 5 cases, 513 European ancestry grade 1 controls	70 European ancestry grade 5 cases, 73 European ancestry grade 1 controls	6p21.33	RDBP, CFB, DKFZp779M0311	rs522162-?	0.93	3E-7		2.38	[1.69-3.33]	Affymetrix [2543887] (imputed)	N
611	chr6_cox_hap2	3429672	3429673	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	RDBP, CFB, ATF6B, STK19	rs522162-?	0.93	2E-10		2.33	[1.82-3.03]	Affymetrix [2543887] (imputed)	N
611	chr6_cox_hap2	3440106	3440107	rs2734331	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p21.33	SKIV2L	rs2734331-A	0.97	7E-13	(X-11470)	0.073	[0.053-0.093] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
611	chr6_cox_hap2	3440196	3440197	rs592229	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	6p21.33	HLA	rs592229-G	0.43	2E-8		0.048	[0.030-0.066] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
611	chr6_cox_hap2	3440196	3440197	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370399655280899	4E-6	(IGP42)	0.1536	[0.088-0.219] unit increase	Illumina [~ 2500000] (imputed)	N
611	chr6_cox_hap2	3440196	3440197	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370283129554656	9E-6	(IGP2)	0.1479	[0.083-0.213] unit increase	Illumina [~ 2500000] (imputed)	N
611	chr6_cox_hap2	3440217	3440218	rs429608	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	CFB, C2	rs429608-G	0.86	4E-89		1.74	[1.68-1.79]	Affymetrix, Illumina [2442884] (imputed)	N
611	chr6_cox_hap2	3440217	3440218	rs429608	20861866	Kopplin LJ	2010-09-23	Genes Immun	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Age-related macular degeneration	684 European ancestry cases, 188 European ancestry controls	1,896 European ancestry cases, 1,866 European ancestry controls	6p21.33	BF, SKIV2L	rs429608-?	NR	5E-15		1.85	[NR]	Affymetrix [> 361556] (imputed)	N
611	chr6_cox_hap2	3440217	3440218	rs429608	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs429608-G	0.842	3E-21		2.16	[1.84-2.53]	Illumina [~ 2500000] (imputed)	N
611	chr6_cox_hap2	3442916	3442917	rs406936	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	SKIV2L	rs406936-?	0.10	7E-7		1.75	[1.41-2.17]	Affymetrix [2543887] (imputed)	N
611	chr6_cox_hap2	3450652	3450653	rs389884	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	CFB, STK19, ZBTB12	rs389884-C	0.0953	2E-8	(EA, WBC)	0.0254	[0.017-0.034] unit decrease	Illumina [544917]	N
611	chr6_cox_hap2	3450652	3450653	rs389884	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs389884-C	0.1148	8E-66		3.65	[NR]	Illumina [242824]	N
611	chr6_cox_hap2	3477546	3477547	rs6455	26385043	Kertai MD	2015-06-17	Am Heart J	Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery.	Postoperative atrial fibrillation in coronary artery bypass grafting surgery	620 European ancestry cases, 257 European ancestry controls	220 cases, 84 controls	6p21.33	CYP21A2	rs6455-G	0.015	3E-6		1.96	[0.51-7.58]	Illumina [524975]	N
611	chr6_cox_hap2	3490396	3490397	rs2857009	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2857009-G	0.20	1E-22	(Serum level of C4)	0.08	[0.060-0.100] g/L increase	Illumina [1940245] (imputed)	N
611	chr6_cox_hap2	3497458	3497459	rs12198173	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	TNXB	rs12198173-?	NR	3E-6	(progression)			Illumina [NR]	N
611	chr6_cox_hap2	3515518	3515519	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	3E-9		0.68	[0.44-0.92] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
611	chr6_cox_hap2	3515518	3515519	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	6p21.33	CYP21A2	rs2021783-C	0.79	4E-11				Affymetrix, Illumina [2485448] (imputed)	N
611	chr6_cox_hap2	3515518	3515519	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	2E-12		0.49	[0.35-0.63] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
611	chr6_cox_hap2	3520732	3520733	rs185819	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.33	HLA class III	rs185819-T	0.52	3E-8		5.2	[3.44-6.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
611	chr6_cox_hap2	3521423	3521424	rs1150754	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.33	TNXB	rs1150754-A	0.13	6E-29	(anti-dsDNA +)	2.21	[1.93-2.53]	Illumina [421318] (imputed)	N
611	chr6_cox_hap2	3530529	3530530	rs1150753	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	TNXB	rs1150753-?	NR	6E-9				Affymetrix [up to 700598]	N
612	chr6_cox_hap2	3540729	3540730	rs41268896	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	c6orf10	rs41268896-A	NR	4E-8		1.298	[1.238-1.361]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
612	chr6_cox_hap2	3541668	3541669	rs41268902	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs41268902-A	NR	5E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
612	chr6_cox_hap2	3541677	3541678	rs3117181	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p21.32	TNXB	rs3117181-C	NR	5E-7	(DPA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
612	chr6_cox_hap2	3545465	3545466	rs12153855	23886662	Weidinger S	2013-07-25	Hum Mol Genet	A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.	Atopic dermatitis	1563 European ancestry cases, 4,054 European ancestry controls	2,286 European ancestry cases, 3,160 European ancestry controls	6p21.32	TNXB, CREBL1	rs12153855-T	NR	3E-14		1.581	[1.405-1.779]	Illumina [2406139] (imputed)	N
612	chr6_cox_hap2	3545465	3545466	rs12153855	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	TNXB	rs12153855-C	0.011	1E-9		1.44	[1.28-1.63]	Illumina [2272849] (imputed)	N
612	chr6_cox_hap2	3547160	3547161	rs2269426	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	6p21.32	MHC	rs2269426-T	0.76	3E-6	(EA)	4.6	[2.7-6.6] % standard unit increase	Illumina [312179]	N
612	chr6_cox_hap2	3550228	3550229	rs17207986	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.32	MHC	rs17207986-G	NR	1E-16	(Analysis III)	3.95	[NR]	Illumina [313720]	N
612	chr6_cox_hap2	3580642	3580643	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	4E-11		0.0266	[0.019-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_cox_hap2	3580642	3580643	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	3E-9	(EA)	0.025	[0.017-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_cox_hap2	3580642	3580643	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
612	chr6_cox_hap2	3580642	3580643	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
612	chr6_cox_hap2	3580642	3580643	rs204999	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs204999-G	0.2643	9E-40		2.44	[NR]	Illumina [242824]	N
612	chr6_cox_hap2	3585180	3585181	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196796488164359	4E-6	(IGP18)	0.1779	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
612	chr6_cox_hap2	3585180	3585181	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.19676420855615	4E-6	(IGP25)	0.1773	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
612	chr6_cox_hap2	3585180	3585181	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196432337204109	4E-8	(IGP23)	0.2111	[0.14-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
612	chr6_cox_hap2	3593139	3593140	rs3096696	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	PPT2	rs3096696-A		4E-6		1.478		Affymetrix [NR]	N
612	chr6_cox_hap2	3598156	3598157	rs3134950	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	6p21.32	AGPAT1, PPT2	rs3134950-A	0.625	6E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_cox_hap2	3598156	3598157	rs3134950	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		6p21.32	EGFL8, AGPAT1, PPT2	rs3134950-A	NR	1E-6		0.0945	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_cox_hap2	3605190	3605191	rs3096697	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	EGFL8	rs3096697-T	0.2054	1E-41		2.58	[NR]	Illumina [242824]	N
612	chr6_cox_hap2	3607227	3607228	rs1061808	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	6p21.32	AGPAT1	rs1061808-?	NR	8E-10	(proportions)	0.9	[NR] % increase	Illumina [NR] (imputed)	N
612	chr6_cox_hap2	3611167	3611168	rs3130284	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	AGPAT1	rs3130284-C	NR	7E-6		1.464		Affymetrix [NR]	N
612	chr6_cox_hap2	3617172	3617173	rs3134945	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	RNF5	rs3134945-T	0.2049	2E-40		2.54	[NR]	Illumina [242824]	N
612	chr6_cox_hap2	3617837	3617838	rs41268928	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	RNF5, NOTCH4, AGER	rs41268928-C	0.04	3E-16	(EA)	0.69	unit decrease	Affymetrix [up to 9100000] (imputed)	N
612	chr6_cox_hap2	3619940	3619941	rs2071288	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	AGER, RNF5, NOTCH4	rs2071288-T	0.1	2E-8	(Blacks)	0.56	unit decrease	Affymetrix [up to 9100000] (imputed)	N
612	chr6_cox_hap2	3622123	3622124	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	4E-9	(All)	0.23	[0.15-0.31] unit decrease	Illumina [6900000] (imputed)	N
612	chr6_cox_hap2	3622123	3622124	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	5E-9	(%LAA-950, All)	0.14	[-0.07560-0.35560] unit decrease	Illumina [7600000] (imputed)	N
612	chr6_cox_hap2	3622123	3622124	rs2070600	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	AGER	rs2070600-?	NR	1E-21	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
612	chr6_cox_hap2	3622123	3622124	rs2070600	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	6p21.32	AGER, PPT2	rs2070600-T	0.04	3E-14	(FEV1/FVC)	1.0	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
612	chr6_cox_hap2	3622123	3622124	rs2070600	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	6p21.32	AGER	rs2070600-T	0.06	3E-15	(FEV1/FVC)	0.088	[0.066-0.110] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_cox_hap2	3626258	3626259	rs204993	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	PBX2	rs204993-A	0.58	2E-15		1.17	[1.12-1.21]	Illumina [458847]	N
612	chr6_cox_hap2	3628996	3628997	rs176095	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	GPSM3	rs176095-G	NR	3E-7		1.3020833	[1.18-1.44]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
612	chr6_cox_hap2	3628996	3628997	rs176095	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	GPSM3	rs176095-T	0.81	8E-20		1.4	[1.30-1.51]	Illumina [606164]	N
612	chr6_cox_hap2	3634425	3634426	rs13215567	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	GPSM3, NOTCH4	rs13215567-A	0.049	1E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
612	chr6_cox_hap2	3636121	3636122	rs2071278	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRA	rs2071278-G	0.27	4E-72	(Serum level of C4)	0.13	[0.11-0.15] g/L decrease	Illumina [1940245] (imputed)	N
612	chr6_cox_hap2	3641762	3641763	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	5E-7	(EA)	1.25	[NR]	NR [1085772] (imputed)	N
612	chr6_cox_hap2	3641762	3641763	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	3E-7		1.25	[NR]	NR [1085772] (imputed)	N
612	chr6_cox_hap2	3642371	3642372	rs2071277	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	NOTCH4	rs2071277-C	0.219	2E-11		1.3	[1.20-1.41]	Illumina [2272849] (imputed)	N
612	chr6_cox_hap2	3643681	3643682	rs3131296	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	6p21.32	MHC, NOTCH4	rs3131296-G	0.87	2E-10		1.19	[NR]	Illumina [314868]	N
612	chr6_cox_hap2	3650569	3650570	rs2071286	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	NOTCH4	rs2071286-?	0.29	2E-8		2.15	[NR]	Illumina [899641]	N
612	chr6_cox_hap2	3655019	3655020	rs404860	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	NOTCH4	rs404860-A	0.50	4E-23		1.21	[1.16-1.25]	Illumina [458847]	N
612	chr6_cox_hap2	3659055	3659056	rs422951	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	NOTCH4	rs422951-G	0.81	5E-16		1.27	[1.20-1.35]	Illumina [3680900] (imputed)	N
612	chr6_cox_hap2	3660697	3660698	rs3132946	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	6p21.32	NR	rs3132946-A	0.12	8E-6		1.38	[1.21-1.57]	Illumina [439828]	N
612	chr6_cox_hap2	3661075	3661076	rs443198	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs443198-?	0.63	9E-21	(ACA positive)	1.82	[1.59-2.04]	Illumina [NR] (imputed)	N
612	chr6_cox_hap2	3661289	3661290	rs3134931	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		6p21.32	HLA, NOTCH4, C2	rs3134931-T	0.73	1E-8		0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [2397181]	N
612	chr6_cox_hap2	3663006	3663007	rs3096702	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	6p21.32	CYP21A2, DOM3Z, FKBPL, HLA-DRB6, HCG23, LOC10029, ATF6B, LOC100293534, AGER, LOC100507547, MIR1236, PPT2, PPT2-EGF, HLA-DRA, PPT2-EGFL8, RNF5, RNF5P1, CFB, RDBP, TNXA, TNXB, HLA-DQB1, NOTCH4, SKIV2L, STK19, GPSM3, PBX2, LOC10050, EGFL8, AGPAT1, C2, C4A, PRRT1, BTNL2, C4B, HLA-DRB5, C6orf10, HLA-DRB1, CYP21A1P, HLA-DQA1	rs3096702-A	0.4	5E-9		1.07	[1.04-1.10]	Illumina [~ 2600000] (imputed)	N
613	chr6_cox_hap2	3675704	3675705	rs549182	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	NOTCH4	rs549182-A	0.11	8E-10		1.59	[1.37-1.85]	Illumina [480391]	N
613	chr6_cox_hap2	3675769	3675770	rs9267911	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	PBX2, NOTCH4	rs9267911-T	0.479	3E-7		1.5	[1.29-1.76]	Illumina [4929034] (imputed)	N
613	chr6_cox_hap2	3678995	3678996	rs424232	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	6p21.32	HLA	rs424232-C		5E-21				Illumina [944512] (imputed)	N
613	chr6_cox_hap2	3681466	3681467	rs419132	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6p21.32	HLA-area	rs419132-G	0.2	5E-12		0.056	[0.04-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
613	chr6_cox_hap2	3687801	3687802	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-C	0.585	6E-6	(EA)	0.02	[0.012-0.028] unit increase	Illumina [NR] (imputed)	N
613	chr6_cox_hap2	3687801	3687802	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-?	NR	3E-8		0.0196	[0.013-0.026] unit decrease	Illumina [NR] (imputed)	N
613	chr6_cox_hap2	3687941	3687942	rs9267972	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	C6orf10, NOTCh4	rs9267972-A	NR	2E-6	(Dominant)	1.85	[1.46,2.33]	Affymetrix, Illumina [1621689] (imputed)	N
613	chr6_cox_hap2	3689552	3689553	rs3115573	20595679	Feehally J	2010-07-01	J Am Soc Nephrol	HLA has strongest association with IgA nephropathy in genome-wide analysis.	Nephropathy	187 European ancestry child cases, 244 European ancestry cases, 4,980 European ancestry controls	NA	6p21.32	intergenic	rs3115573-?	NR	1E-9		1.62	[1.39-1.90]	Illumina [286200]	N
613	chr6_cox_hap2	3689698	3689699	rs9296015	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs9296015-?	0.81	1E-8	(ATA positive)	1.85	[1.49-2.27]	Illumina [NR] (imputed)	N
613	chr6_cox_hap2	3689698	3689699	rs9296015	21505073	Terao C	2011-04-19	Hum Mol Genet	The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.	Rheumatoid arthritis	1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls	4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls	6p21.32	HLA locus	rs9296015-?	NR	2E-38				Illumina [241523]	N
613	chr6_cox_hap2	3693997	3693998	rs3130320	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	NOTCH4, C6orf10	rs3130320-T	0.39	3E-6	(case-only)	1.39	[1.21-1.60]	Illumina [421318] (imputed)	N
613	chr6_cox_hap2	3715370	3715371	rs3130340	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	6p21.32	MHC, C6orf10	rs3130340-T	0.79	1E-7		0.1	[0.06-0.13] s.d. decrease	Illumina [301019]	N
613	chr6_cox_hap2	3728346	3728347	rs926070	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	6p21.32	HLA	rs926070-A		4E-8	0.66	1.27	[NR]	Illumina [450000] (imputed)	N
613	chr6_cox_hap2	3732029	3732030	rs7775397	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs7775397-G	0.1139	5E-71		3.83	[NR]	Illumina [242824]	N
613	chr6_cox_hap2	3753655	3753656	rs6910071	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6p21.32	HLA-DRB1	rs6910071-G	0.22	1E-299		2.88	[2.73-3.03]	Affymetrix, Illumina [~ 2716259] (imputed)	N
613	chr6_cox_hap2	3776779	3776780	rs3129900	20639878	Singer JB	2010-07-18	Nat Genet	A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.	Lumiracoxib-related liver injury	31 European ancestry cases, 3 Hispanic cases, 1 case, 176 European, Hispanic and other ancestry controls	79 European ancestry cases, 16 Hispanic ancestry cases, 1 case, 405 European, Hispanic and other ancestry controls	6p21.32	HLA-DRB1	rs3129900-?	0.105	7E-25		7.5	[5.0-11.3]	Affymetrix [682386]	N
613	chr6_cox_hap2	3779709	3779710	rs9469099	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	C6orf10	rs9469099-G	0.909	5E-19		1.61	[1.44-1.80]	Illumina [606164]	N
613	chr6_cox_hap2	3786183	3786184	rs910049	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	C6orf10	rs910049-A	0.142	9E-11		1.46	[1.28-1.62]	Illumina [431618]	N
613	chr6_cox_hap2	3790087	3790088	rs9268301	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	C6orf10	rs9268301-A	0.438	2E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
613	chr6_cox_hap2	3792000	3792001	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
613	chr6_cox_hap2	3792000	3792001	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
613	chr6_cox_hap2	3792000	3792001	rs2395148	18576341	Behrens EM	2008-06-24	Arthritis Rheum	Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.	Arthritis (juvenile idiopathic)	67 European ancestry cases, 1,952 European ancestry controls, 63 cases	NA	6p21.32	HLA-DRB1	rs2395148-?	NR	2E-10		5.37	[3.02-9.56]	Illumina [524684]	N
613	chr6_cox_hap2	3795817	3795818	rs13196329	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.32	C6orf10	rs13196329-C	0.02	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
614	chr6_cox_hap2	3806666	3806667	rs3129934	22457343	Martinelli-Boneschi F	2012-03-28	Mult Scler	A genome-wide association study in progressive multiple sclerosis.	Multiple sclerosis	197 European ancestry cases, 234 European ancestry controls	379 European ancestry cases, 398 European ancestry controls	6p21.32	C6orf10	rs3129934-T	0.10	7E-16		2.34	[1.90-2.87]	Affymetrix [277866]	N
614	chr6_cox_hap2	3806666	3806667	rs3129934	18941528	Comabella M	2008-10-22	PLoS One	Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.	Multiple sclerosis	242 European ancestry cases, 242 European ancestry controls	553 European ancestry cases, 1,033 European ancestry controls	6p21.32	HLA-DRB1	rs3129934-T	NR	9E-11		3.3	[2.3-4.9]	Affymetrix [428867]	N
614	chr6_cox_hap2	3807245	3807246	rs3129939	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs3129939-G	0.1772	2E-40		2.6	[NR]	Illumina [242824]	N
614	chr6_cox_hap2	3808110	3808111	rs2273017	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.32	MHC	rs2273017-A	0.51	2E-22		1.53	[1.40-1.66]	Perlegen [268068]	N
614	chr6_cox_hap2	3809155	3809156	rs3129943	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	C6orf10	rs3129943-T	0.62	3E-15		1.17	[1.12-1.21]	Illumina [458847]	N
614	chr6_cox_hap2	3809535	3809536	rs2050190	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	6p21.32	C6orf10	rs2050190-A	NR	7E-7		0.2528	[0.17-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
614	chr6_cox_hap2	3811812	3811813	rs9268402	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6p21.32	BTNL2, C6orf10	rs9268402-G	0.59	3E-15		1.16	[1.12-1.20]	Affymetrix [~ 2200000] (imputed)	N
614	chr6_cox_hap2	3815726	3815727	rs7758128	21326295	Jin Y	2011-02-17	J Invest Dermatol	Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.	Vitiligo	1,339 European ancestry cases	677 European ancestry cases	6p21.32	BTNL2, C6orf10	rs7758128-A	0.06	8E-11				Illumina [520460]	N
614	chr6_cox_hap2	3828698	3828699	rs3117099	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.32	other genes, MHC	rs3117099-?	NR	3E-6		1.25	[NR]	Affymetrix [745006]	N
614	chr6_cox_hap2	3828941	3828942	rs3117098	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	BTNL2	rs3117098-G	0.25	5E-12		1.16	[1.11-1.21]	Illumina [458847]	N
614	chr6_cox_hap2	3833635	3833636	rs1980493	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	BTNL2	rs1980493-G	NR	2E-20		2.5034		Illumina [514008]	N
614	chr6_cox_hap2	3833635	3833636	rs1980493	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	BTNL2	rs1980493-G	0.1656	1E-48		2.87	[NR]	Illumina [242824]	N
614	chr6_cox_hap2	3833635	3833636	rs1980493	19287509	Cui J	2009-03-14	Mol Med	Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.	Anti-cyclic Citrullinated Peptide Antibody	531 European ancestry cases	849 European ancestry cases	6p21.32	HLA-DRA, BTNL2	rs1980493-?	0.13	5E-7				Affymetrix [97248]	N
614	chr6_cox_hap2	3834236	3834237	rs2076530	22936702	Hofmann S	2012-08-30	Eur Respir J	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.	Sarcoidosis	637 European ancestry cases, 1,233 European ancestry controls	3,121 European ancestry cases, 4,284 European ancestry controls	6p21.32	BTNL2	rs2076530-?	NR	3E-11	(Chronic)			Affymetrix [677619]	N
614	chr6_cox_hap2	3834264	3834265	rs9268480	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	BTNL2	rs9268480-G	0.91	3E-6		1.82	[1.43-2.33]	Illumina [513923]	N
614	chr6_cox_hap2	3834375	3834376	rs2076529	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p21.32	BTNL2	rs2076529-C	0.43	4E-7		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
614	chr6_cox_hap2	3838507	3838508	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	BTNL2	rs3817963-?	NR	8E-6	(OCB positive vs. controls)	1.52	[1.27-1.79]	Illumina [495970]	N
614	chr6_cox_hap2	3838507	3838508	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	BTNL2	rs3817963-?	NR	6E-10		1.61	[1.38-1.87]	Illumina [495970]	N
614	chr6_cox_hap2	3838507	3838508	rs3817963	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-A	0.315	1E-8		1.3	[1.18-1.42]	Illumina [431618]	N
614	chr6_cox_hap2	3838507	3838508	rs3817963	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-G	0.318	3E-10		1.18	[1.12-1.24]	Illumina [538166]	N
614	chr6_cox_hap2	3840992	3840993	rs9461741	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.32	BTNL2	rs9461741-C	0.018	4E-15		2.66	[2.08-3.39]	Illumina [611856]	N
614	chr6_cox_hap2	3843637	3843638	rs10947261	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs10947261-T	0.294	3E-12		1.36	[1.25-1.49]	Illumina [5664371] (imputed)	N
614	chr6_cox_hap2	3843717	3843718	rs10947262	20305777	Nakajima M	2010-03-18	PLoS One	New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.	Knee osteoarthritis	899 Japanese ancestry cases, 3,396 Japanese ancestry controls	167 Japanese ancestry cases, 347 Japanese ancestry controls, 813 European ancestry  cases, 1,071 European ancestry controls,	6p21.32	HLA-DQA2, HLA-DQB1, BTNL2	rs10947262-T	0.42	5E-9		1.31	[1.20-1.44]	Illumina [459393]	N
614	chr6_cox_hap2	3844104	3844105	rs3806156	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p21.32	HLA-DRA, BTNL2, HLA-DQA1	rs3806156-T	0.37	7E-19		1.42	[1.32-1.54]	Illumina [520460]	N
614	chr6_cox_hap2	3846379	3846380	rs3763309	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	6p21.32	HLA-DRB1	rs3763309-?		2E-124		2.3	[2.14-2.46]	Affymetrix, Illumina [1831729] (imputed)	N
614	chr6_cox_hap2	3846754	3846755	rs3763312	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.32	BTNL2, HLA-DRA	rs3763312-A	0.15	6E-6	(Han)	0.4002	unit decrease	Illumina [up to 528294]	N
614	chr6_cox_hap2	3846877	3846878	rs3763313	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.32	NOTCH4, BTNL2	rs3763313-?	NR	2E-6	(progression)			Illumina [NR]	N
614	chr6_cox_hap2	3847194	3847195	rs3763317	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRB	rs3763317-C	0.37	9E-66	(Serum level of C4)	0.12	[0.10-0.14] g/L increase	Illumina [1940245] (imputed)	N
614	chr6_cox_hap2	3849892	3849893	rs9268516	23028483	Ramasamy A	2012-09-28	PLoS One	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Asthma	1,716 European ancestry cases, 16,888 European ancestry controls	4,035 European ancestry cases, 11,251 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268516-T	0.24	1E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 2200000] (imputed)	N
614	chr6_cox_hap2	3850139	3850140	rs9405098	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs9405098-A	0.253	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
614	chr6_cox_hap2	3852137	3852138	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.517	2E-11		0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
614	chr6_cox_hap2	3852137	3852138	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5158	5E-8	(women)	0.0241	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
614	chr6_cox_hap2	3852137	3852138	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5154	4E-6	(men)	0.0223	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
614	chr6_cox_hap2	3852137	3852138	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.511	4E-11	(EA)	0.0226	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
614	chr6_cox_hap2	3852137	3852138	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5107	2E-7	(EA, women)	0.0237	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
614	chr6_cox_hap2	3852137	3852138	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5106	5E-6	(EA, men)	0.0226	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
614	chr6_cox_hap2	3853460	3853461	rs4959027	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.32	TAP2, HLA-DRA	rs4959027-G	0.82	9E-7	(Pubertal growth)	0.09	[0.057-0.123] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
614	chr6_cox_hap2	3853518	3853519	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
614	chr6_cox_hap2	3853518	3853519	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
614	chr6_cox_hap2	3855131	3855132	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
614	chr6_cox_hap2	3855131	3855132	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
614	chr6_cox_hap2	3858220	3858221	rs2395163	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	6p21.32	LOC642072	rs2395163-?	NR	3E-11		1.24	[NR]	Illumina [2500000] (imputed)	N
614	chr6_cox_hap2	3859554	3859555	rs116869525	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA-DRB1*08:03	rs116869525-T	0.083	1E-8	(trend)	4.16	[2.50-6.90] (allelic)	Affymetrix [522980]	N
614	chr6_cox_hap2	3860059	3860060	rs3135363	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DR	rs3135363-?	NR	8E-7		1.51	[1.28-1.78]	Illumina [588026]	N
614	chr6_cox_hap2	3860059	3860060	rs3135363	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3135363-C	0.702	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
614	chr6_cox_hap2	3860059	3860060	rs3135363	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DR	rs3135363-?	NR	7E-22		1.53	[1.35-1.74]	Illumina [455508]	N
614	chr6_cox_hap2	3860059	3860060	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
614	chr6_cox_hap2	3860059	3860060	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
614	chr6_cox_hap2	3863419	3863420	rs3135350	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	6p21.32	NOTCH4, HLA-DRA, BTNL2	rs3135350-G	0.046	9E-8	(Gliadin)	0.51	[NR] unit increase	Illumina [944565] (imputed)	N
614	chr6_cox_hap2	3871515	3871516	rs3129860	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3129860-A	0.231	1E-9		1.36	[1.22-1.49]	Illumina [431618]	N
614	chr6_cox_hap2	3871653	3871654	rs3135338	20159113	Jakkula E	2010-02-12	Am J Hum Genet	Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.	Multiple sclerosis	68 Finland founder cases, 136 Finland founder controls	83 Finland founder cases, 365 Finland founder controls 3,285 European ancestry cases, 6,379 European ancestry controls, 1,202 cases, 3,399 controls	6p21.32	HLA	rs3135338-A	0.13	2E-25		3.43	[NR]	Illumina [297343]	N
614	chr6_cox_hap2	3876779	3876780	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRA	rs3129871-?	NR	1E-16	(OCB positive vs. controls)	1.98	[1.68-2.32]	Illumina [495970]	N
614	chr6_cox_hap2	3876779	3876780	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	HLA-DRA	rs3129871-?	NR	6E-15		1.72	[1.59-1.86]	Illumina [495970]	N
614	chr6_cox_hap2	3878979	3878980	rs9268645	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	6p21.32	MHC	rs9268645-?	NR	1E-100				Affymetrix, Illumina [841622] (imputed)	N
614	chr6_cox_hap2	3879981	3879982	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	5E-10	(Sporadic)	1.38	[1.24-1.52]	Illumina [811597]	N
614	chr6_cox_hap2	3879981	3879982	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	3E-8		1.31	[1.19-1.43]	Illumina [811597]	N
614	chr6_cox_hap2	3879981	3879982	rs3129882	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRA	rs3129882-?	0.44	2E-27	(ATA positive)	2.17	[1.88-2.50]	Illumina [NR] (imputed)	N
614	chr6_cox_hap2	3879981	3879982	rs3129882	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	6p21.32	HLA-DRA	rs3129882-G	0.40	2E-10		1.26	[1.17-1.35]	Illumina [811597]	N
614	chr6_cox_hap2	3882097	3882098	rs7192	22541561	Zhao H	2012-04-26	Am J Hum Genet	A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.	Non-obstructive azoospermia	802 Han Chinese ancestry cases, 1,863 Han Chinese ancestry controls	1,424 Han Chinese ancestry cases, 2,713 Han Chinese ancestry controls	6p21.32	HLA-DRA	rs7192-T	0.26	3E-6		1.29	[NR]	Affymetrix, Illumina [912924]	N
614	chr6_cox_hap2	3882852	3882853	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	3E-17		0.045	[NR] unit increase	NR [NR] (imputed)	N
614	chr6_cox_hap2	3882852	3882853	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	1E-21		0.048	[NR] unit increase	NR [NR] (imputed)	N
614	chr6_cox_hap2	3882852	3882853	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	2E-15		1.83	[1.36-2.3] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
614	chr6_cox_hap2	3882852	3882853	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	4E-19		2.31	[1.78-2.84] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
614	chr6_cox_hap2	3883468	3883469	rs3135388	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
614	chr6_cox_hap2	3883468	3883469	rs3135388	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p21.32	HLA-DRB1	rs3135388-A	0.22	4E-225		2.75	[2.46-3.07]	Affymetrix, Illumina [~ 2560000] (imputed)	N
614	chr6_cox_hap2	3883468	3883469	rs3135388	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	6p21.32	HLA-DRA	rs3135388-A	0.23	9E-81		1.99	[1.84-2.15]	Affymetrix [334923]	N
614	chr6_cox_hap2	3883876	3883877	rs2227139	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p21.32	intergenic	rs2227139-G	NR	1E-7	(WBC)	0.02	[0.01-0.03] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
614	chr6_cox_hap2	3883962	3883963	rs3129889	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3129889-G	0.20	1E-206		2.97	[NR]	Affymetrix, Illumina [2529394]	N
614	chr6_cox_hap2	3884695	3884696	rs3129890	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DRA	rs3129890-T	0.61	5E-13		1.15	[1.11-1.20]	Illumina [458847]	N
614	chr6_cox_hap2	3895290	3895291	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.72	1E-10	(East Asian)	1.3	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_cox_hap2	3895290	3895291	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	2E-38		1.41	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_cox_hap2	3895290	3895291	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	1E-30	(EA)	1.49	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_cox_hap2	3898693	3898694	rs6903608	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	6p21.32	HLA class II, HLA class I	rs6903608-C	0.30	7E-31		1.64	[1.51-1.78]	Affymetrix, Illumina [1004829] (imputed)	N
614	chr6_cox_hap2	3898693	3898694	rs6903608	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	6p21.32	NR	rs6903608-G	0.27	5E-27		1.62	[NR]	Illumina [296129]	N
614	chr6_cox_hap2	3898693	3898694	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
614	chr6_cox_hap2	3898693	3898694	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
614	chr6_cox_hap2	3898693	3898694	rs6903608	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	6p21.32	HLA-DRA	rs6903608-G	0.27	3E-50		1.7	[1.58-1.82]	Illumina [504374]	N
614	chr6_cox_hap2	3899180	3899181	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250	(EA)	2.47	[2.39-2.55]	Affymetrix, Illumina [up to 9739303] (imputed)	N
614	chr6_cox_hap2	3899180	3899181	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250		2.28	[2.22-2.34]	Affymetrix, Illumina [up to 9739303] (imputed)	N
614	chr6_cox_hap2	3899180	3899181	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.44	2E-145	(East Asian)	1.9	[1.81-1.99]	Affymetrix, Illumina [up to 9739303] (imputed)	N
614	chr6_cox_hap2	3900052	3900053	rs9268853	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	MHC	rs9268853-T	0.64	3E-6		1.37	[1.20-1.56]	Illumina [581060]	N
614	chr6_cox_hap2	3900052	3900053	rs9268853	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	BTLN2, HLA-DRA, HLA-DRB5, HLA-DRB1	rs9268853-C	NR	2E-10	(FL)	1.56	[NR]	Affymetrix [530583]	N
614	chr6_cox_hap2	3900052	3900053	rs9268853	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9268853-T	0.66	1E-55		1.4	[1.34-1.47]	Affymetrix, Illumina [~ 1100000] (imputed)	N
614	chr6_cox_hap2	3900128	3900129	rs9268856	24943344	Ferrari R	2014-07-01	Lancet Neurol	Frontotemporal dementia and its subtypes: a genome-wide association study.	Frontotemporal dementia	1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls	690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2	rs9268856-C	0.748	6E-9	(All Frontotemporal dementia)	1.24	[1.16-1.32]	Illumina [6026385] (imputed)	N
614	chr6_cox_hap2	3901550	3901551	rs9268877	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	6p21.32	MHC	rs9268877-?	NR	4E-23				Affymetrix [NR]	N
614	chr6_cox_hap2	3901550	3901551	rs9268877	18836448	Franke A	2008-10-05	Nat Genet	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.	Ulcerative colitis	1,167 European ancestry cases, 777 European ancestry controls	1,855 European ancestry cases, 3,091 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268877-T	0.45	6E-18		1.45	[1.33-1.58]	Affymetrix [355262]	N
614	chr6_cox_hap2	3902483	3902484	rs9268905	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	6p21.32	HLA-DRA	rs9268905-C	0.32	1E-7				Illumina [~ 2609000] (imputed)	N
614	chr6_cox_hap2	3903256	3903257	rs9268923	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	6p21.32	HLA-DRA	rs9268923-C	0.67	4E-15		1.45	[1.33-1.59]	Affymetrix [1897764] (imputed)	N
614	chr6_cox_hap2	3903588	3903589	rs2395185	25186300	Terao C	2014-09-03	Arthritis Rheumatol	An association between anti-nuclear antibody and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study.	Antinuclear antibody levels	3,185 Japanese ancestry individuals	3,963 Japanese ancestry individuals	6p21.32	HLA-DRA, HLA-DRB5	rs2395185-?	NR	1E-11		0.25	unit increase	Illumina [303506]	N
614	chr6_cox_hap2	3903588	3903589	rs2395185	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	6p21.32	HLA class II	rs2395185-T	0.35	1E-8		1.17	[1.11-1.23]	Illumina [596032]	N
614	chr6_cox_hap2	3903588	3903589	rs2395185	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.32	HLA-DRA	rs2395185-?	NR	4E-31	(Total cHL)	1.82	[1.67-2.00]	Illumina [502514]	N
614	chr6_cox_hap2	3903588	3903589	rs2395185	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	6p21.32	C6orf10, BTNL2, HLA	rs2395185-G	NR	9E-23		1.49	[NR]	Illumina [266047]	N
614	chr6_cox_hap2	3903588	3903589	rs2395185	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	intergenic	rs2395185-G	0.61	5E-22		1.92	[1.68-2.19]	Illumina [513923]	N
614	chr6_cox_hap2	3903588	3903589	rs2395185	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, BTNL2, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs2395185-?	0.67	1E-16		1.52		Illumina [280748]	N
614	chr6_cox_hap2	3914614	3914615	rs12194148	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs12194148-?	NR	5E-58	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
614	chr6_cox_hap2	3914960	3914961	rs12195582	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	6p21.32	HLA	rs12195582-T	0.465	5E-100		1.78	[1.69-1.88]	Illumina [up to 21554489]	N
614	chr6_cox_hap2	3917128	3917129	rs7453498	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	6p21.32	intergenic	rs7453498-C	0.8656	3E-6	(Complete)	0.8142	[0.47-1.16] unit increase	Affymetrix, Illumina [NR] (imputed)	N
614	chr6_cox_hap2	3919015	3919016	rs7748270	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	MHC	rs7748270-T	0.525	4E-13	(all cases vs. all controls)	1.7361	[NR]	Affymetrix [3441843] (imputed)	N
614	chr6_cox_hap2	3919015	3919016	rs7748270	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	MHC	rs7748270-T	0.525	1E-16	(ACPA+ cases vs. all controls)	2.01	[NR]	Affymetrix [3441843] (imputed)	N
615	chr6_cox_hap2	3972904	3972905	rs3828840	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3828840-?	NR	5E-15	(OCB positive vs. controls)	1.94	[1.64-2.29]	Illumina [495970]	N
615	chr6_cox_hap2	4003304	4003305	rs17885382	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	HLA-DRB1	rs17885382-T		3E-6		1.627		Affymetrix [NR]	N
615	chr6_cox_hap2	4020675	4020676	rs477515	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DRA, BTNL2, HLA-DRB1, C6orf10	rs477515-T	0.442	3E-19		2.05	[1.75-2.41]	Illumina [588026]	N
615	chr6_cox_hap2	4020675	4020676	rs477515	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	HLA-DRB1	rs477515-T	0.32	3E-13	(Quantitative)	0.28	[NR] unit decrease	Illumina [944565]	N
615	chr6_cox_hap2	4020675	4020676	rs477515	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	6p21.32	HLA-DQA1	rs477515-?	0.69	1E-8		1.38	[1.23-1.54]	Illumina [NR]	N
615	chr6_cox_hap2	4022933	4022934	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
615	chr6_cox_hap2	4022933	4022934	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
615	chr6_cox_hap2	4024145	4024146	rs9270965	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9270965-?	NR	5E-12		1.72	[NR]	Affymetrix [603382]	N
615	chr6_cox_hap2	4024303	4024304	rs602875	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs602875-A	0.68	5E-27		1.61	[1.39-1.61]	Illumina [491883]	N
615	chr6_cox_hap2	4024673	4024674	rs9270984	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6p21.32	HLA-DRB1	rs9270984-T	0.18	5E-24		1.73		Illumina [2100739] (imputed)	N
615	chr6_cox_hap2	4024742	4024743	rs9270986	25643325	Renton AE	2015-04-01	JAMA Neurol	A Genome-wide Association Study of Myasthenia Gravis.	Myasthenia gravis	972 European ancestry cases, 1,977 European ancestry controls	423 European ancestry cases, 467 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9270986-A	0.15	6E-8		1.43	[NR]	Illumina [8114394] (imputed)	N
615	chr6_cox_hap2	4024853	4024854	rs615672	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	HLA-DRB1	rs615672-?	NR	8E-27				Affymetrix [469557]	N
615	chr6_cox_hap2	4026367	4026368	rs3021304	25108386	Hou S	2014-08-10	Nat Genet	Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.	Vogt-Koyanagi-Harada syndrome	774 Han Chinese ancestry cases, 2,009 Han Chinese ancestry controls	764 Han Chinese ancestry cases, 3594 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3021304-G	0.346	1E-118		2.97	[2.71-3.26]	Affymetrix, Illumina [2208258] (imputed)	N
615	chr6_cox_hap2	4026444	4026445	rs9461776	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	HLA-DQA1, HLA-DRB1	rs9461776-G	0.29	7E-9		2.02	[NR]	Illumina [899641]	N
615	chr6_cox_hap2	4027185	4027186	rs9271100	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs9271100-T	0.217	8E-95		1.68	[NR]	Illumina [4577171] (imputed)	N
615	chr6_cox_hap2	4027185	4027186	rs9271100	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs9271100-?	NR	1E-12		1.9	[1.59-2.27]	Illumina [493955]	N
615	chr6_cox_hap2	4027502	4027503	rs9271117	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9271117-?	NR	6E-14		1.75	[NR]	Affymetrix [603382]	N
615	chr6_cox_hap2	4028085	4028086	rs660895	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p21.32	NR	rs660895-G	0.259	1E-10		1.289	[1.184-1.402]	Illumina [3792949] (imputed)	N
615	chr6_cox_hap2	4028085	4028086	rs660895	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs660895-G	0.24	4E-20		1.34	[1.26-1.42]	Illumina [444882]	N
615	chr6_cox_hap2	4028085	4028086	rs660895	17804836	Plenge RM	2007-09-05	N Engl J Med	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.	Rheumatoid arthritis	1,522 European ancestry cases, 1,850 European ancestry controls	1,053 European ancestry cases, 1,858 European ancestry controls	6p21.32	HLA-DRB1	rs660895-?	0.21	1E-108		3.62	[NR]	Illumina [297086]	N
615	chr6_cox_hap2	4028786	4028787	rs674313	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DRB5	rs674313-T	0.26	7E-9		1.69	[1.41-2.01]	Affymetrix [827777]	N
615	chr6_cox_hap2	4029234	4029235	rs9271192	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	6p21.32	HLA-DRB5, HLA-DRB1	rs9271192-C	0.276	3E-12		1.11	[1.08-1.18]	Illumina [7055881] (imputed)	N
615	chr6_cox_hap2	4029739	4029740	rs9271209	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.32	NR	rs9271209-?	NR	2E-85	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
615	chr6_cox_hap2	4032611	4032612	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-6	(LYM)	1.29	[1.16-1.43]	Affymetrix [530583]	N
615	chr6_cox_hap2	4032611	4032612	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-12	(FL)	1.93	[NR]	Affymetrix [530583]	N
615	chr6_cox_hap2	4032611	4032612	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	2E-8	(NHL)	1.37	[1.23-1.54]	Affymetrix [530583]	N
615	chr6_cox_hap2	4032611	4032612	rs4530903	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs4530903-?	NR	5E-6	(Negative/disorganized symptoms)	0.0919	[NR] unit increase	Affymetrix [696491]	N
615	chr6_cox_hap2	4034462	4034463	rs9271348	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271348-?		5E-7		1.2821	[NR]	Illumina [452367]	N
615	chr6_cox_hap2	4037577	4037578	rs9271366	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9271366-A	0.888	5E-12		1.66	[1.44-1.92]	Illumina [5664371] (imputed)	N
615	chr6_cox_hap2	4037577	4037578	rs9271366	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271366-G	0.11	1E-18		2.1	[1.78-2.48]	Illumina [581060]	N
615	chr6_cox_hap2	4037577	4037578	rs9271366	21699788	Okada Y	2011-06-20	Gastroenterology	HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.	Ulcerative colitis or Crohn's disease	372 Japanese ancestry Crohn's disease cases, 372 Japanese ancestry ulcerative colitis cases	607 Japanese ancestry Crohn's disease cases, 376 Japanese ancestry ulcerative colitis cases	6p21.32	MHC, HLA-DRB1	rs9271366-C	0.21	2E-70	(UC vs. CD)	4.44	[3.74-5.27]	Illumina [461368]	N
615	chr6_cox_hap2	4037577	4037578	rs9271366	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-?	0.85	3E-33		7.69	[5.26-11.11]	Illumina [2057134] (imputed)	N
615	chr6_cox_hap2	4037577	4037578	rs9271366	20598377	Nischwitz S	2010-06-30	J Neuroimmunol	Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.	Multiple sclerosis	590 European ancestry cases, 825 European ancestry controls	NA	6p21.32	DQA1	rs9271366-G	NR	4E-17		2.62	[2.09-3.28]	Illumina [~ 300000]	N
615	chr6_cox_hap2	4037577	4037578	rs9271366	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-G	0.15	7E-184		2.78	[NR]	Illumina [302098]	N
615	chr6_cox_hap2	4039989	4039990	rs35597309	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	6p21.32	HLA	rs35597309-A	0.072	1E-7		1.19	[1.12-1.27]	Affymetrix, Illumina [7556215] (imputed)	N
615	chr6_cox_hap2	4041660	4041661	rs3129763	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3129763-?	0.25	1E-11	(ATA positive)	1.65	[1.42-1.91]	Illumina [NR] (imputed)	N
615	chr6_cox_hap2	4041688	4041689	rs9271588	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1, c6orf10, BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB6	rs9271588-T	0.532	9E-37		1.75	[1.59-1.89]	Affymetrix [556134]	N
615	chr6_cox_hap2	4042921	4042922	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DRB1	rs9271640-A	NR	5E-12		1.56	[1.38-1.77]	NR [485522]	N
615	chr6_cox_hap2	4042921	4042922	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
615	chr6_cox_hap2	4042921	4042922	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
615	chr6_cox_hap2	4042921	4042922	rs9271640	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA1	rs9271640-?	NR	2E-20	(OCB positive vs. controls)	2.37	[1.97-2.84]	Illumina [495970]	N
615	chr6_cox_hap2	4045625	4045626	rs9271858	23291585	Fakiola M	2013-01-06	Nat Genet	Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.	Leishmaniasis (visceral)	989 Indian ancestry cases, 1,089 Indian ancestry controls, 357 Brazilian ancestry cases, 1,613 Brazilian ancestry unaffected relatives	951 Indian ancestry cases, 990 Indian ancestry controls	6p21.32	HLA, HLA-DRB1, HLA-DQA1	rs9271858-G	0.39	3E-17		1.41	[1.30-1.52]	Illumina [521134]	N
615	chr6_cox_hap2	4050374	4050375	rs9272105	22807686	Li S	2012-07-12	PLoS Genet	GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.	Hepatocellular carcinoma	1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers	4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.45	5E-22		1.28	[1.22-1.35]	NR [523663]	N
615	chr6_cox_hap2	4050374	4050375	rs9272105	21502966	Weber F	2011-04-19	Pharmacogenomics J	Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-&#x003b2; therapy in multiple sclerosis patients.	Response to interferon beta therapy	178 European ancestry antibody-positive individuals, 184 European ancestry antibody-negative individuals	350 European ancestry antibody-positive individuals, 468 European ancestry antibody-negative individuals	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.44	4E-10		0.26	[NR] unit increase	Illumina [~ 317000]	N
615	chr6_cox_hap2	4051176	4051177	rs9272143	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9272143-?	NR	3E-22		1.49	[1.37-1.61]	Illumina [632668]	N
615	chr6_cox_hap2	4052650	4052651	rs9272219	19571809	Shi J	2009-07-01	Nature	Common variants on chromosome 6p22.1 are associated with schizophrenia.	Schizophrenia	2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls	5,327 European ancestry cases, 16,424 European ancestry controls	6p21.32	HLA-DQA1	rs9272219-G	0.72	7E-8	(EA)	1.14	[NR]	Affymetrix [up to 843798]	N
615	chr6_cox_hap2	4053380	4053381	rs2040406	20453840	Sanna S	2010-05-09	Nat Genet	Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.	Multiple sclerosis	882 Sardinian cases, 872 Sardinian controls	1,775 Sardinian cases, 2,005 Sardinian controls	6p21.32	HLA-DQB1, HLA-DRB	rs2040406-G	0.26	1E-20		2.05	[NR]	Affymetrix [6607266] (imputed)	N
615	chr6_cox_hap2	4054758	4054759	rs9272346	23181788	Lasky-Su J	2012-12-04	Clin Exp Allergy	HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.	Asthma	Up to 1,238 European ancestry cases, up to 2,617 European ancestry controls	Up to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents	6p21.32	HLA-DQA1	rs9272346-?	NR	2E-8	(Adult)			Affymetrix [455089]	N
615	chr6_cox_hap2	4054758	4054759	rs9272346	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	6p21.32	HLA	rs9272346-G	NR	6E-129				Affymetrix [up to 335565]	N
615	chr6_cox_hap2	4054758	4054759	rs9272346	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	6p21.32	MHC	rs9272346-G	0.61	5E-134		5.49	[4.83-6.24]	Affymetrix [469557]	N
615	chr6_cox_hap2	4056276	4056277	rs2187668	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	NR	1E-9				Affymetrix [up to 700598]	N
615	chr6_cox_hap2	4056276	4056277	rs2187668	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-T	0.107	4E-10		2.93	[2.18-3.95]	Affymetrix [906600]	N
615	chr6_cox_hap2	4056276	4056277	rs2187668	24768677	de Boer YS	2014-04-23	Gastroenterology	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	Autoimmune hepatitis type-1	649 European ancestry cases, 13,436 European ancestry controls	451 European ancestry cases, 4,103 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	0.15	2E-78		2.9	[2.60-3.40]	Illumina [254006]	N
615	chr6_cox_hap2	4056276	4056277	rs2187668	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DR3	rs2187668-A	0.12	6E-28	(anti-dsDNA +)	2.23	[1.94-2.57]	Illumina [421318] (imputed)	N
615	chr6_cox_hap2	4056276	4056277	rs2187668	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	HLA-DQA1	rs2187668-A	0.1297	8E-93		4.32	[NR]	Illumina [242824]	N
615	chr6_cox_hap2	4056276	4056277	rs2187668	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs2187668-A	0.13	2E-33		2.53	[2.17-2.95]	Illumina [2057134] (imputed)	N
615	chr6_cox_hap2	4056276	4056277	rs2187668	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs2187668-A	0.26	1E-50		6.23	[5.95-6.52]	Illumina [292387]	N
615	chr6_cox_hap2	4056276	4056277	rs2187668	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.11	3E-21				Illumina [502033]	N
615	chr6_cox_hap2	4056276	4056277	rs2187668	17558408	van Heel DA	2007-06-10	Nat Genet	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.	Celiac disease	778 European ancestry cases, 1,422 European ancestry controls	991 European ancestry cases, 1,489 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.14	1E-19		7.04	[6.08-8.15]	Illumina [310605]	N
615	chr6_cox_hap2	4057221	4057222	rs9272535	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DQA1	rs9272535-A	0.27	9E-8		1.61	[1.35-1.92]	Affymetrix [827777]	N
615	chr6_cox_hap2	4062846	4062847	rs6927022	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DQA1	rs6927022-A	0.535	5E-133		1.444	[1.387-1.503]	Affymetrix, Illumina [1230000] (imputed)	N
616	chr6_cox_hap2	4071148	4071149	rs9273349	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	6p21.32	HLA-DQ	rs9273349-C	0.58	7E-14		1.18	[1.13-1.24]	Illumina [582892]	N
616	chr6_cox_hap2	4071409	4071410	rs7744020	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs7744020-A	0.272	8E-9		1.9	year decrease	Affymetrix [603382]	N
616	chr6_cox_hap2	4071551	4071552	rs9273363	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	6p21.32	HLA	rs9273363-A	0.27	2E-10		1.24	[NR]	Illumina [549934]	N
616	chr6_cox_hap2	4071590	4071591	rs6906021	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.45	2E-12		1.15	[1.11-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4071590	4071591	rs6906021	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.4749	7E-15		0.0945	[0.071-0.118] unit increase	Illumina [2400000] (imputed)	N
616	chr6_cox_hap2	4071878	4071879	rs9273373	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	6p21.32	HLA-DQB1	rs9273373-G	0.54	4E-14		1.24	[1.17-1.30]	Illumina [up to 4972397] (imputed)	N
616	chr6_cox_hap2	4072983	4072984	rs1063355	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DQA1	rs1063355-A	NR	2E-6		1.43	[1.23-1.66]	Illumina [480391]	N
616	chr6_cox_hap2	4081648	4081649	rs9274623	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs9274623-G	NR	6E-19		1.1363636	[NR]	Illumina [7158791] (imputed)	N
616	chr6_cox_hap2	4097191	4097192	rs17212223	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs17212223-T	0.191	3E-8		1.95	year decrease	Affymetrix [603382]	N
616	chr6_cox_hap2	4100870	4100871	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
616	chr6_cox_hap2	4100870	4100871	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
616	chr6_cox_hap2	4103088	4103089	rs3129716	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQB1	rs3129716-?	NR	4E-9				Affymetrix [up to 700598]	N
616	chr6_cox_hap2	4103230	4103231	rs7774434	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	6p21.32	MHC	rs7774434-C	0.38	4E-34		1.6	[1.48-1.73]	Illumina [507467]	N
616	chr6_cox_hap2	4103230	4103231	rs7774434	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	6p21.32	HLA-DQB1	rs7774434-C	0.371	3E-26		1.75	[NR]	Illumina [276459]	N
616	chr6_cox_hap2	4103731	4103732	rs7775228	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	6p21.32	HLA region	rs7775228-C	0.13	2E-9		1.33	[1.21-1.45]	Affymetrix, Illumina [2217510] (imputed)	N
616	chr6_cox_hap2	4103731	4103732	rs7775228	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQB1	rs7775228-A	0.63	5E-15		1.17	[1.12-1.21]	Illumina [458847]	N
616	chr6_cox_hap2	4103962	4103963	rs9469220	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQB1	rs9469220-G	NR	2E-7		0.09	[0.05-0.12] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
616	chr6_cox_hap2	4103962	4103963	rs9469220	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	6p21.32	NR	rs9469220-A	0.48	2E-6		1.14	[0.98-1.32]	Affymetrix [469557]	N
616	chr6_cox_hap2	4105528	4105529	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.59	8E-14	(East Asian)	1.38		Illumina [> 1000000] (imputed)	N
616	chr6_cox_hap2	4105528	4105529	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-30		1.36	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_cox_hap2	4105528	4105529	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-18	(EA)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_cox_hap2	4109285	4109286	rs3129720	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQB1	rs3129720-?	NR	5E-15	(OCB positive vs. controls)	1.91	[1.62-2.24]	Illumina [495970]	N
616	chr6_cox_hap2	4109285	4109286	rs3129720	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQB1, HLA-DRB9, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs3129720-C	0.764	5E-7		1.16	(1.10-1.23)	Illumina [870065]	N
616	chr6_cox_hap2	4109505	4109506	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
616	chr6_cox_hap2	4109505	4109506	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1	rs6457617-A	NR	7E-17		0.127	[NR] unit decrease	NR [485236]	N
616	chr6_cox_hap2	4109505	4109506	rs6457617	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DRB1, DQA1, DQB1	rs6457617-T	0.45	7E-33		1.4	[1.32-1.48]	Illumina [486049]	N
616	chr6_cox_hap2	4109505	4109506	rs6457617	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.32	HLA, DQB1	rs6457617-T	0.50	2E-37		1.61	[1.49-1.72]	Illumina [489814]	N
616	chr6_cox_hap2	4109505	4109506	rs6457617	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	6p21.32	HLA-DQB1	rs6457617-?	0.53	4E-17		1.37	[1.28-1.47]	Illumina [279621]	N
616	chr6_cox_hap2	4109505	4109506	rs6457617	18668548	Julia A	2008-08-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.	Rheumatoid arthritis	400 European ancestry cases, 400 European ancestry controls	410 European ancestry cases, 394 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQA1	rs6457617-?	NR	1E-9				Illumina [299918]	N
616	chr6_cox_hap2	4109505	4109506	rs6457617	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	MHC	rs6457617-T	0.49	5E-75		2.36	[1.97-2.84]	Affymetrix [469557]	N
616	chr6_cox_hap2	4109653	4109654	rs6457620	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.32	HLA locus	rs6457620-C	0.51	2E-16		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
616	chr6_cox_hap2	4109653	4109654	rs6457620	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	6p21.32	HLA-DRB1	rs6457620-?	0.50	4E-186		2.55	[2.40-2.71]	Affymetrix, Illumina [at least 315971] (imputed)	N
616	chr6_cox_hap2	4110112	4110113	rs2647012	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	intergenic	rs2647012-?	NR	3E-7	(Additive)	1.52	[1.3-1.75]	Affymetrix, Illumina [1621689] (imputed)	N
616	chr6_cox_hap2	4110112	4110113	rs2647012	21533074	Smedby KE	2011-04-21	PLoS Genet	GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma.	Follicular lymphoma	379 European ancestry cases, 791 European ancestry controls	1,049 European ancestry cases, 3,952 European ancestry controls	6p21.32	HLA-DQB1	rs2647012-G	0.56	2E-21		1.56	[1.43-1.72]	Illumina [298168]	N
616	chr6_cox_hap2	4110112	4110113	rs2647012	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQA1	rs2647012-A	0.44	8E-6	(case-only)	1.38	[1.20-1.59]	Illumina [421318] (imputed)	N
616	chr6_cox_hap2	4110614	4110615	rs9357152	21896673	Chen D	2011-09-10	Hum Mol Genet	Genome-wide association study of HPV seropositivity.	HPV seropositivity	1,286 European ancestry lung cancer cases, 679 European ancestry head and neck cancer cases, 811 European ancestry kidney cancer cases, 2,035 European ancestry controls	1,307 Hispanic head and neck cancer cases, 1,037 Hispanic controls	6p21.32	HLA-DQB1	rs9357152-G	0.33	1E-14				Illumina [316015]	N
616	chr6_cox_hap2	4110614	4110615	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
616	chr6_cox_hap2	4110614	4110615	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
616	chr6_cox_hap2	4111074	4111075	rs10484561	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.32	HLA-DQB1	rs10484561-G	0.11	1E-29	(FL)	1.95	[1.72-2.22]	Illumina [312768]	N
616	chr6_cox_hap2	4111949	4111950	rs9275319	23242368	Jiang DK	2012-12-16	Nat Genet	Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.	Hepatocellular carcinoma (hepatitis B virus related)	1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls	4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls	6p21.32	HLA-DQ	rs9275319-A	0.88	3E-17		1.49	[1.36-1.63]	Illumina [1672517] (imputed)	N
616	chr6_cox_hap2	4112314	4112315	rs9275326	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	6p21.32	HLA-DQB	rs9275326-C	0.906	1E-12		1.21	[1.16-1.26]	Illumina [7893274] (imputed)	N
616	chr6_cox_hap2	4113556	4113557	rs2647044	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.32	HLA-DQB1	rs2647044-G	NR	6E-6	(FEV1/FVC)	0.044	[0.024-0.064] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4113556	4113557	rs2647044	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	6p21.32	HLA-DRB1	rs2647044-A	0.13	1E-16		8.3	[6.97-9.89]	Illumina [543071]	N
616	chr6_cox_hap2	4113747	4113748	rs2647045	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647045-?	NR	4E-10	(FL)	1.69	[NR]	Affymetrix [530583]	N
616	chr6_cox_hap2	4113983	4113984	rs2647046	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647046-?	NR	2E-6	(NHL)	1.25	[1.14-1.37]	Affymetrix [530583]	N
616	chr6_cox_hap2	4114802	4114803	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.75	1E-7	(ATA positive)	1.61	[1.35-1.92]	Illumina [NR] (imputed)	N
616	chr6_cox_hap2	4114802	4114803	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.25	3E-54	(ACA positive)	2.38	[2.13-2.67]	Illumina [NR] (imputed)	N
616	chr6_cox_hap2	4115019	4115020	rs11752643	21971053	Takeuchi F	2011-10-05	Eur J Hum Genet	Genome-wide association study of coronary artery disease in the Japanese.	Coronary heart disease	806 Japanese ancestry cases, 1,337 Japanese ancestry controls	3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls	6p21.32	HLA, DRB-DQB	rs11752643-T	0.06	5E-7		1.26	[1.15-1.38]	Illumina [451382]	N
616	chr6_cox_hap2	4115413	4115414	rs2647050	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	HLA-DQB1	rs2647050-T	NR	1E-6	(Perc15, All)	1.6	[0.66-2.54] unit increase	Illumina [7600000] (imputed)	N
616	chr6_cox_hap2	4115601	4115602	rs9275406	23918589	Negi S	2013-12-01	Arthritis Rheum	A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians.	Rheumatoid arthritis	706 North Indian ancestry cases, 761 North Indian ancestry controls	927 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1, C6orf10, HLA-DQA1	rs9275406-T	0.17	3E-12		2.1	[1.72-2.68]	Illumina [559348]	N
616	chr6_cox_hap2	4115895	4115896	rs2856718	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB1	rs2856718-C	0.55	7E-28		1.28	[1.22-1.33]	Illumina [3680900] (imputed)	N
616	chr6_cox_hap2	4115895	4115896	rs2856718	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs2856718-?	NR	2E-24		1.6	[1.46-1.75]	Illumina [719265]	N
616	chr6_cox_hap2	4115895	4115896	rs2856718	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DQB1	rs2856718-A	0.48	4E-37		1.56	[1.45-1.67]	Illumina [423627]	N
616	chr6_cox_hap2	4115948	4115949	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.77	5E-10	(East Asian)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_cox_hap2	4115948	4115949	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	5E-8	(EA)	1.21	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_cox_hap2	4115948	4115949	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	1E-15		1.27	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_cox_hap2	4116743	4116744	rs13192471	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	6p21.32	HLA-DRB1	rs13192471-G	0.22	2E-58		1.97	[1.82-2.14]	Illumina [393217]	N
616	chr6_cox_hap2	4116888	4116889	rs1794275	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DQA/B	rs1794275-A	0.15	3E-13		1.3	[1.21-1.39]	Illumina [444882]	N
616	chr6_cox_hap2	4120376	4120377	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945894807901907	8E-6	(IGP1)	0.3014	[0.17-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4120376	4120377	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945736455079007	1E-6	(IGP19)	0.3272	[0.2-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4120376	4120377	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945425811930783	3E-7	(IGP41)	0.3448	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4120748	4120749	rs9275524	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	intergenic	rs9275524-T		2E-7	(Modelling analysis)	1.07	[1.04-1.09]	NR [1252901] (imputed)	N
616	chr6_cox_hap2	4121109	4121110	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	7E-14	(ACPA+ cases vs. all controls)	3.015	[NR]	Affymetrix [3441843] (imputed)	N
616	chr6_cox_hap2	4121109	4121110	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	3E-12	(all cases vs. all controls)	2.608	[NR]	Affymetrix [3441843] (imputed)	N
616	chr6_cox_hap2	4121109	4121110	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	2E-13	(ACPA- cases vs. all controls)	2.869	[NR]	Affymetrix [3441843] (imputed)	N
616	chr6_cox_hap2	4123526	4123527	rs9275563	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275563-?	NR	6E-11	(OCB positive vs. controls)	1.75	[1.47-2.04]	Illumina [495970]	N
616	chr6_cox_hap2	4124211	4124212	rs4273729	23420232	Duggal P	2013-02-19	Ann Intern Med	Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.	Chronic hepatitis C infection	1,482 chronic HCV cases, 919 spontaneously cleared HCV cases	461 chronic HCV cases, 284 spontaneously cleared HCV cases	6p21.32	HLA	rs4273729	NR	5E-17		1.59		Illumina [792721] (imputed)	N
616	chr6_cox_hap2	4124613	4124614	rs9275572	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-A	0.4	5E-16		1.74	[1.64-1.85]	Illumina [NR]	N
616	chr6_cox_hap2	4124613	4124614	rs9275572	24376798	Miki D	2013-12-20	PLoS One	HLA-DQB1*03 confers susceptibility to chronic hepatitis C in Japanese: a genome-wide association study.	Chronic hepatitis C infection	481 Japanese ancestry cases, 2,963 Japanese ancestry controls	5,737 Japanese ancestry cases, 26,931 Japanese ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs9275572-T	0.359	4E-16		1.27	[1.19-1.33]	Illumina [458207]	N
616	chr6_cox_hap2	4124613	4124614	rs9275572	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.32	HLA-DQ, HLA-DR	rs9275572-A	0.36	6E-9		1.3	[1.19-1.42]	Illumina [432703]	N
616	chr6_cox_hap2	4124613	4124614	rs9275572	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-G	0.59	1E-35		2.21	[1.98-2.47]	Illumina [463301]	N
616	chr6_cox_hap2	4126190	4126191	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Pack-years)	1.0E-4	[-0.00014-0.00025] unit decrease	NR [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4126190	4126191	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Ever-smoking)	0.001	[-0.04016-0.04216] unit decrease	NR [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4126542	4126543	rs7765379	25383971	Dunstan SJ	2014-11-10	Nat Genet	Variation at HLA-DRB1 is associated with resistance to enteric fever.	Enteric fever	432 Vietnamese ancestry cases, 2,011 Vietnamese ancestry controls	151 Vietnamese ancestry cases,  668 Vietnamese ancestry controls, 595 Nepalese ancestry cases, 386 Nepalese ancestry controls	6p21.32	HLA-DRB1, HLA-DQB1	rs7765379-A	0.945	2E-13		4.55	[2.94-6.67]	Illumina [709725]	N
616	chr6_cox_hap2	4126542	4126543	rs7765379	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	HLA-DQA2, HLA-DOB, HLA-DQB1, PSMB9, HLA-DRB1, HLA-DQA1	rs7765379-G	NR	9E-59		1.93	[1.78-2.09]	Illumina [4929034] (imputed)	N
616	chr6_cox_hap2	4126542	4126543	rs7765379	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	6p21.32	HLA-DRB1	rs7765379-?		5E-23		2.51	[NR]	Illumina [441398]	N
616	chr6_cox_hap2	4126891	4126892	rs2858331	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQA2	rs2858331-G	NR	6E-6				Affymetrix, Illumina [NR] (imputed)	N
616	chr6_cox_hap2	4126891	4126892	rs2858331	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p21.32	HLA-DQA2	rs2858331-G	NR	1E-8		0.04	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
616	chr6_cox_hap2	4126969	4126970	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.763	6E-6		0.016	[0.0089-0.0227] kg/m2 increase	Affymetrix, Illumina [2550021]	N
616	chr6_cox_hap2	4126969	4126970	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.76	9E-6	(EA)	0.016	[0.009-0.0232] kg/m2 increase	Affymetrix, Illumina [2550021]	N
616	chr6_cox_hap2	4127245	4127246	rs9275596	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Peanut allergy	316 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 589 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	62 European ancestry child cases, 69 European ancestry child controls, 24 child cases, 58 child controls	6p21.32	HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DQA2	rs9275596-C	0.35	6E-11	(EA)	1.7	[1.40-2.10]	Illumina [6459842] (imputed)	N
616	chr6_cox_hap2	4127245	4127246	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.8	1E-19	(East Asian)	1.69	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_cox_hap2	4127245	4127246	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	3E-31		1.44	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_cox_hap2	4127245	4127246	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	2E-15	(EA)	1.35		Illumina [> 1000000] (imputed)	N
616	chr6_cox_hap2	4127245	4127246	rs9275596	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1, HLA-DQA1	rs9275596-?	0.73 (EA)	2E-26		1.59	[NR]	Illumina [498322]	N
616	chr6_cox_hap2	4127283	4127284	rs6935723	25217962	Heap GA	2014-09-14	Nat Genet	HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.	Response to thiopurine immunosuppressants in inflammatory bowel disease (pancreatitis) (azathioprine and mercaptopurine)	172 European ancestry cases, 2,035 European ancestry controls	78 European ancestry cases, 472 controls	6p21.32	HLA region	rs6935723-C	0.27	1E-21		2.46	[2.04-2.98]	Affymetrix, Illumina [2819700] (imputed)	N
616	chr6_cox_hap2	4127290	4127291	rs3104402	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs3104402-A	NR	6E-6		0.165	[0.094-0.236] unit decrease	Affymetrix [736996]	N
616	chr6_cox_hap2	4127751	4127752	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
616	chr6_cox_hap2	4127751	4127752	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
616	chr6_cox_hap2	4131158	4131159	rs3916765	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p21.32	HLA-DQA2	rs3916765-A	0.12	1E-6	(Lean)	1.21	[1.12-1.31]	NR [NR]	N
616	chr6_cox_hap2	4133556	4133557	rs9275698	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQA2	rs9275698-T	0.79	5E-12		1.18	[1.12-1.24]	Illumina [458847]	N
616	chr6_cox_hap2	4143379	4143380	rs2859113	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs2859113-C	0.378328302013423	6E-8	(IGP59)	0.1817	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4145666	4145667	rs2858884	20711174	Hor H	2010-08-15	Nat Genet	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	Narcolepsy	562 European ancestry cases, 702 European ancestry controls	370 cases, 495 controls	6p21.32	HLA-DQA2	rs2858884-A	0.81	3E-8		1.79	[1.45-2.17]	Affymetrix [392949]	N
616	chr6_cox_hap2	4152872	4152873	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQA2	rs9276370-T	0.076	2E-12		1.95	[1.62-2.34]	Illumina [456262]	N
616	chr6_cox_hap2	4152872	4152873	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
616	chr6_cox_hap2	4169818	4169819	rs7756516	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
616	chr6_cox_hap2	4171095	4171096	rs2301271	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2	rs2301271-T	0.40	2E-12	(anti-dsDNA -)	1.47	[1.32-1.63]	Illumina [421318] (imputed)	N
616	chr6_cox_hap2	4172705	4172706	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.346381764494382	2E-8	(IGP42)	0.1909	[0.12-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4172705	4172706	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.34601888034188	4E-8	(IGP2)	0.1853	[0.12-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_cox_hap2	4175914	4175915	rs7453920	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-A	0.88	1E-60		2.0	[1.82-2.17]	Illumina [3680900] (imputed)	N
616	chr6_cox_hap2	4175914	4175915	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.051	7E-15		2.31	[1.87-2.85]	Illumina [456262]	N
616	chr6_cox_hap2	4175914	4175915	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
616	chr6_cox_hap2	4175914	4175915	rs7453920	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.87	5E-37		1.8868	[1.69-2.08]	Illumina [490610]	N
616	chr6_cox_hap2	4175914	4175915	rs7453920	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs7453920-?	NR	7E-26		2.0	[1.72-2.27]	Illumina [719265]	N
616	chr6_cox_hap2	4175914	4175915	rs7453920	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2	rs7453920-?	NR	5E-6	(LYM)	1.19	[1.11-1.3]	Affymetrix [530583]	N
616	chr6_cox_hap2	4175914	4175915	rs7453920	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HAL-DQB2	rs7453920-G	0.83	6E-28		1.81	[1.62-2.01]	Illumina [423627]	N
616	chr6_cox_hap2	4175988	4175989	rs2051549	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	6p21.32	HLA-DQA2	rs2051549-?	NR	3E-22				Illumina [737984]	N
616	chr6_cox_hap2	4182600	4182601	rs9276606	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs9276606-T	0.15	3E-22	(Serum level of C4)	0.09	[0.070-0.110] g/L decrease	Illumina [1940245] (imputed)	N
616	chr6_cox_hap2	4187773	4187774	rs2621416	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2, TAP2	rs2621416-G	NR	2E-9	(FL)	1.57	[NR]	Affymetrix [530583]	N
617	chr6_cox_hap2	4209120	4209121	rs2857151	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	6p21.32	HLA-DOB, HLA-DQB2	rs2857151-G	0.76	5E-11		1.47	[1.23-1.77]	Illumina [463793]	N
617	chr6_cox_hap2	4227615	4227616	rs7383287	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs7383287-A	NR	1E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
617	chr6_cox_hap2	4231565	4231566	rs1894407	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6p21.32	NR	rs1894407-C		1E-7		1.17	[1.11-1.24]	Affymetrix, Illumina [up to 3437411] (imputed)	N
617	chr6_cox_hap2	4242301	4242302	rs2228391	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA	rs2228391-C	0.108	4E-7	(trend)	3.32	[2.02-5.46] (allelic)	Affymetrix [522980]	N
617	chr6_cox_hap2	4242404	4242405	rs241436	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p21.32	TAP2	rs241436-G	0.49	8E-6	(men)	0.089	[0.05-0.128] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
617	chr6_cox_hap2	4243259	4243260	rs1015166	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	TAP2	rs1015166-T	NR	4E-22		2.1428		Illumina [514008]	N
617	chr6_cox_hap2	4248597	4248598	rs241428	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs241428-G	0.08	9E-83	(Serum level of C4)	0.23	[0.21-0.25] g/L increase	Illumina [1940245] (imputed)	N
617	chr6_cox_hap2	4254375	4254376	rs9357155	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	TAP2, TAP1, PSMB8, PSMB9	rs9357155-?	0.87 (EA)	2E-12		1.41	[NR]	Illumina [498322]	N
617	chr6_cox_hap2	4256156	4256157	rs2071543	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	PSMB9, TAP1, TAP2, PSMB8	rs2071543-G	0.80	2E-9	(East Asian)	1.41	[NR]	Illumina [> 1000000] (imputed)	N
617	chr6_cox_hap2	4297174	4297175	rs2187689	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	PSMB9	rs2187689-C	0.08	3E-8		0.23	[0.15-0.31] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4299220	4299221	rs10046257	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10046257-A	0.10	3E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4300240	4300241	rs6457690	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6457690-A	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4300904	4300905	rs1029296	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029296-C	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4301005	4301006	rs1029295	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029295-C	0.10	5E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4301457	4301458	rs6936004	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6936004-C	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4301942	4301943	rs10214886	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10214886-A	0.10	2E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4304235	4304236	rs7744666	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs7744666-C	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4304271	4304272	rs11969002	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs11969002-A	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4305275	4305276	rs9469300	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs9469300-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_cox_hap2	4307130	4307131	rs3749982	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs3749982-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
618	chr6_cox_hap2	4357771	4357772	rs1480380	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	NR	rs1480380-C	0.908	6E-7	(Modelling analysis)			NR [1252901] (imputed)	N
618	chr6_cox_hap2	4357771	4357772	rs1480380	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs1480380-T	0.0877	4E-39		3.05	[NR]	Illumina [242824]	N
618	chr6_cox_hap2	4359251	4359252	rs73396800	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs73396800-G	NR	4E-16		1.1904762	[NR]	Illumina [7158791] (imputed)	N
618	chr6_cox_hap2	4360376	4360377	rs16871226	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs16871226-G	0.0244821228239845	2E-6	(IGP67)	0.5182	[0.3-0.73] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_cox_hap2	4397821	4397822	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.87438328769575	7E-6	(IGP59)	0.2057	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_cox_hap2	4397821	4397822	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874270331235955	2E-6	(IGP42)	0.2151	[0.13-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr6_cox_hap2	4397821	4397822	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874157767431399	5E-6	(IGP2)	0.2092	[0.12-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr6_cox_hap2	4397821	4397822	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873857556055831	6E-6	(IGP16)	0.2057	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr6_cox_hap2	4397821	4397822	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873550828800713	6E-6	(IGP61)	0.206	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_cox_hap2	4397821	4397822	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873514573726542	3E-6	(IGP58)	0.2131	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_cox_hap2	4397821	4397822	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.872971129118433	6E-7	(IGP65)	0.2253	[0.14-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_cox_hap2	4405886	4405887	rs9500927	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DOA	rs9500927-T	0.26	4E-9		1.13	[1.09-1.18]	Illumina [458847]	N
618	chr6_cox_hap2	4416900	4416901	rs3128935	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	6p21.32	HLA-DOA	rs3128935-T	0.97	9E-6	(Age 20-60 years)	2.28	[1.59-3.28]	Affymetrix, Illumina [up to 17585496] (imputed)	N
618	chr6_cox_hap2	4418095	4418096	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	White wine liking	381 Carlantino individuals, 744 Friuli Venezia Giulia individuals, 1,115 Val Borbera individuals	1,261 Erasmus Rucphen Family individuals, 335 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	2E-8		0.0539	[NR] unit increase	Illumina [9969492] (imputed)	N
618	chr6_cox_hap2	4418095	4418096	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	Red wine liking	398 Carlantino individuals, 751 Friuli Venezia Giulia individuals, 1,122 Val Borbera individuals	1,246 Erasmus Rucphen Family individuals, 353 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	8E-6		0.0419	[NR] unit increase	Illumina [6967159] (imputed)	N
618	chr6_cox_hap2	4419430	4419431	rs378352	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DOA	rs378352-T	0.39	1E-23		1.26	[1.20-1.31]	Illumina [3680900] (imputed)	N
618	chr6_cox_hap2	4419510	4419511	rs399604	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.32	HLA-DOA	rs399604-C	NR	1E-10		2.346	[1.63-3.06] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
619	chr6_cox_hap2	4477201	4477202	rs3077	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPA1	rs3077-A	0.66	1E-53		1.45	[1.39-1.52]	Illumina [3680900] (imputed)	N
619	chr6_cox_hap2	4477201	4477202	rs3077	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs3077-?	NR	5E-39		1.89	[1.69-2.08]	Illumina [719265]	N
619	chr6_cox_hap2	4477201	4477202	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	4E-45	(Protective effects against CHB)	1.82	[1.67-1.96]	Affymetrix [597789]	N
619	chr6_cox_hap2	4477201	4477202	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	1E-9	(Clearance of HBV)	1.67	[1.43-2.0]	Affymetrix [597789]	N
619	chr6_cox_hap2	4477201	4477202	rs3077	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPA1	rs3077-G	0.60	2E-61		1.87	[1.73-2.01]	Illumina [423627]	N
619	chr6_cox_hap2	4487059	4487060	rs987870	21814517	Noguchi E	2011-07-21	PLoS Genet	Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.	Asthma	938 Japanese ancestry cases, 2,376 Japanese ancestry controls	1653 East Asian ancestry cases, 1453 East Asian ancestry controls	6p21.32	HLA, DPB1	rs987870-C	0.14	2E-10		1.4	[1.26-1.55]	Illumina [450326]	N
619	chr6_cox_hap2	4487059	4487060	rs987870	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1	rs987870-?	0.15	2E-20	(ATA positive)	2.09	[1.78-2.45]	Illumina [NR] (imputed)	N
619	chr6_cox_hap2	4492839	4492840	rs1042151	23180272	Park BL	2012-11-21	Hum Genet	Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.	Aspirin exacerbated respiratory disease in asthmatics	117 Korean ancestry cases, 685 Korean ancestry controls	142 Korean ancestry cases, 996 Korean ancestry controls	6p21.32	HLA-DPB1	rs1042151-G	0.083	5E-7		2.4	[1.68-3.42]	Illumina [430486]	N
619	chr6_cox_hap2	4498975	4498976	rs9277535	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-A	0.58	1E-70		1.52	[1.45-1.59]	Illumina [3680900] (imputed)	N
619	chr6_cox_hap2	4498975	4498976	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.251	5E-14		1.59	[1.41-1.79]	Illumina [456262]	N
619	chr6_cox_hap2	4498975	4498976	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
619	chr6_cox_hap2	4498975	4498976	rs9277535	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs9277535-?	NR	4E-40		1.89	[1.72-2.08]	Illumina [719265]	N
619	chr6_cox_hap2	4498975	4498976	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-21	(Protective effects against CHB)	1.64	[1.47-1.82]	Affymetrix [597789]	N
619	chr6_cox_hap2	4498975	4498976	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-17	(Clearance of HBV)	1.52	[1.37-1.67]	Affymetrix [597789]	N
619	chr6_cox_hap2	4498975	4498976	rs9277535	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DPB1	rs9277535-?	NR	3E-12		1.39	[1.23-1.59]	Illumina [455508]	N
619	chr6_cox_hap2	4498975	4498976	rs9277535	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.57	3E-54		1.77	[1.65-1.91]	Illumina [423627]	N
619	chr6_cox_hap2	4498975	4498976	rs9277535	19349983	Kamatani Y	2009-04-06	Nat Genet	A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.	Hepatitis B	179 Japanese ancestry cases, 934 Japanese ancestry controls	1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls	6p21.32	HLA-DPB1	rs9277535-G		6E-39		1.75	[1.61-1.92]	Illumina [499544]	N
619	chr6_cox_hap2	4499648	4499649	rs9277554	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	6p21.32	HLA-DOA, HSD17B8, RING1, COL11A2, RXRB, HLA-DPB1*04, HLA-DPB1, HLA-DPB2	rs9277554-C	0.708	2E-50		4.17	[3.33-5.00]	Illumina [287802]	N
619	chr6_cox_hap2	4499715	4499716	rs9277555	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	6p21.32	NR	rs9277555-G		6E-7		0.0199	[0.010-0.030] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
619	chr6_cox_hap2	4504219	4504220	rs2281388	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DPB1	rs2281388-T	0.32	2E-65		1.64	[1.55-1.74]	Illumina [486049]	N
619	chr6_cox_hap2	4504923	4504924	rs6928954	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	6p21.32	intergenic	rs6928954-?	0.023	1E-6		0.075	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
619	chr6_cox_hap2	4514039	4514040	rs3117242	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	6p21.32	HLA-DP, COL11A2	rs3117242-?	NR	1E-71		3.67	[NR]	Affymetrix [NR]	N
619	chr6_cox_hap2	4516255	4516256	rs4282438	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	COL11A2, HLA-DPB1, HLA-DPA1	rs4282438-G	0.3546	9E-25		1.58	[1.45-1.72]	Affymetrix [556134]	N
619	chr6_cox_hap2	4516255	4516256	rs4282438	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	HLA-DPB2	rs4282438-?	0.56	5E-27	(Stringently Matched)	1.35	[1.27-1.41]	Affymetrix [563339]	N
619	chr6_cox_hap2	4526407	4526408	rs733208	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Thyroid peroxidase antibody positivity	377 Korean ancestry cases, 3,019 Korean ancestry anti-TPO controls	108 Korean ancestry cases, 734 Korean ancestry controls	6p21.32	HLA-DPB2	rs733208-A	0.30	4E-7		1.435	[1.30-1.57]	Affymetrix [1418709] (imputed)	N
619	chr6_cox_hap2	4530357	4530358	rs3117035	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	6p21.32	intergenic	rs3117035-A	0.48	1E-6		0.14	[0.08-0.20] unit decrease	Illumina [~ 318327]	N
619	chr6_cox_hap2	4530556	4530557	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs1883414-G	0.68	2E-11		1.22	[NR]	Illumina [> 1000000] (imputed)	N
619	chr6_cox_hap2	4530556	4530557	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB1, HLA-DPA1, HLA-DPB2	rs1883414-G	0.68	5E-7	(EA)	1.2	[NR]	Illumina [> 1000000] (imputed)	N
619	chr6_cox_hap2	4530556	4530557	rs1883414	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1, HLA-DPB2	rs1883414-?	0.67 (EA)	5E-9		1.28	[NR]	Illumina [498322]	N
619	chr6_cox_hap2	4533745	4533746	rs3117027	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DPB2	rs3117027-?	NR	1E-7		1.25	[1.15-1.36]	Illumina [632668]	N
619	chr6_cox_hap2	4541399	4541400	rs3129269	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs3129269-C	NR	5E-7	(East Asian)	1.29	[NR]	Illumina [> 1000000] (imputed)	N
619	chr6_cox_hap2	4547971	4547972	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPA3	rs9366816-C	0.414	3E-10		1.43	[1.28-1.60]	Illumina [456262]	N
619	chr6_cox_hap2	4547971	4547972	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
620	chr6_cox_hap2	4587783	4587784	rs2254287	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	6p21.32	B3GALT4	rs2254287-G	0.38	5E-8		1.91	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
620	chr6_cox_hap2	4648119	4648120	rs9277952	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	intergenic	rs9277952-?	0.53	2E-9	(Matched)	1.18	[1.12-1.23]	Affymetrix [563339]	N
585	chr6_dbb_hap3	79526	79527	rs4324798	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p22.1	TRNAA-UGC	rs4324798-A	0.09	2E-8		1.16	[1.09-1.24]	Illumina [515922]	N
587	chr6_dbb_hap3	387640	387641	rs3129109	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p22.1	OR2J3	rs3129109-T	0.39	2E-17		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
588	chr6_dbb_hap3	484165	484166	rs9257616	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	6p22.1	OR2J2, TRIM27, ZNF311, OR2W1, OR2B3, LOC651503, OR214J1, OR5V1, OR12D3, OR2J3	rs9257616-G	0.56	3E-7		0.093	[0.058-0.128] unit increase	Illumina [~ 2500000] (imputed)	N
589	chr6_dbb_hap3	547637	547638	rs144447022	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs144447022-G	NR	2E-28		1.25	[NR]	Illumina [7158791] (imputed)	N
589	chr6_dbb_hap3	655230	655231	rs9378134	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	6p22.1	OR12D3	rs9378134-A	0.04	3E-6		0.49	[0.29-0.69] unit increase	Illumina [2675979] (imputed)	N
590	chr6_dbb_hap3	658655	658656	rs3094548	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p22.1	OR12D2	rs3094548-G	NR	1E-7	(FEV1)	0.029	[0.019-0.039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
590	chr6_dbb_hap3	659784	659785	rs9257809	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	6p22.1	OR2D12, OR2D13, MHC	rs9257809-A	0.87	4E-9		1.21	[1.13-1.28]	Illumina [521744]	N
590	chr6_dbb_hap3	690340	690341	rs16894878	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.1	OR12D1P, OR11A1	rs16894878-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
590	chr6_dbb_hap3	737744	737745	rs4713226	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6p22.1	OR2H1	rs4713226-A		2E-8	(AA)			Illumina [NR]	N
590	chr6_dbb_hap3	765060	765061	rs1233491	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	MAS1L	rs1233491-C	0.088	8E-10		2.2	[1.58-3.08]	Affymetrix [906600]	N
591	chr6_dbb_hap3	824227	824228	rs16895057	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	6p22.1	OR2I1P	rs16895057-T	0.95	3E-6		0.153	[0.088-0.218] unit increase	Affymetrix [1532051] (imputed)	N
591	chr6_dbb_hap3	829727	829728	rs11970475	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p22.1	UBD	rs11970475-A	0.19	2E-24		0.07	[0.054-0.086] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
591	chr6_dbb_hap3	910400	910401	rs3095267	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p22.1	intergenic	rs3095267-?	0.81	9E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
591	chr6_dbb_hap3	914776	914777	rs29232	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	GABBR1	rs29232-A	0.46	9E-17		1.67	[1.48-1.88]	Illumina [480365]	N
592	chr6_dbb_hap3	929672	929673	rs2252711	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.1	MOG	rs2252711-T	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
592	chr6_dbb_hap3	952894	952895	rs385492	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs385492-T	NR	1E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
592	chr6_dbb_hap3	967218	967219	rs3131888	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	6p22.1	NR	rs3131888-C	NR	7E-6		1.2820514	[NR]	Illumina [up to 9792010] (imputed)	N
592	chr6_dbb_hap3	973605	973606	rs3129055	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-F	rs3129055-G	0.31	7E-11		1.51	[1.34-1.71]	Illumina [480365]	N
592	chr6_dbb_hap3	1003398	1003399	rs2523395	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	6p22.1	LOC285830	rs2523395-?	NR	2E-6	(rs1512268)	1.24	[1.14-1.35]	Affymetrix, Illumina [1117531] (imputed)	N
592	chr6_dbb_hap3	1006539	1006540	rs2523393	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p22.1	HLA-B	rs2523393-A	0.59	1E-17		1.28	[1.18-1.39]	Affymetrix, Illumina [~ 2560000] (imputed)	N
592	chr6_dbb_hap3	1024026	1024027	rs9258260	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	6p22.1	UBD, HLA-A, HLA-G, HLA-F, MOG, GABBR1, HLA-H	rs9258260-T	0.104	2E-10		1.45	[1.21-1.68]	Affymetrix, Illumina [1060934] (imputed)	N
593	chr6_dbb_hap3	1129258	1129259	rs2523822	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA	6p22.1	HLA-A	rs2523822-?	NR	2E-10		2.3	[1.80-2.90]	Illumina [822927]	N
593	chr6_dbb_hap3	1144620	1144621	rs2523809	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-G	rs2523809-T	NR	4E-8		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
593	chr6_dbb_hap3	1167420	1167421	rs189370103	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p22.1	NR	rs189370103-?	NR	8E-6	(Native Hawaiian)	1.0607	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
594	chr6_dbb_hap3	1194639	1194640	rs2524005	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p22.1	other genes, MHC	rs2524005-?	NR	5E-7		1.32	[NR]	Affymetrix [745006]	N
594	chr6_dbb_hap3	1200047	1200048	rs2860580	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p22.1	HLA-A	rs2860580-?	0.62	5E-67		1.72	[1.61-1.82]	Illumina [464328]	N
594	chr6_dbb_hap3	1206673	1206674	rs1061235	21428769	McCormack M	2011-03-24	N Engl J Med	HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.	Adverse response to carbamapezine	65 European ancestry cases, 3,987 European ancestry controls	80 European ancestry cases, 257 European ancestry controls		HLA-A*3101	rs1061235-?	NR	1E-7		9.12	[4.03-20.65]	Illumina [~ 1200000] (imputed)	N
594	chr6_dbb_hap3	1211484	1211485	rs2517713	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-A	rs2517713-A	0.62	4E-20		1.88	[1.65-2.15]	Illumina [480365]	N
594	chr6_dbb_hap3	1213718	1213719	rs9260489	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	HLA-A	rs9260489-G	0.58	2E-22		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
594	chr6_dbb_hap3	1213718	1213719	rs9260489	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p22.1	HLA-B	rs9260489-T	0.45	1E-11		1.21	[NR]	Affymetrix, Illumina [2529394]	N
594	chr6_dbb_hap3	1216110	1216111	rs16896742	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p22.1	HLA-A	rs16896742-G	0.38	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
594	chr6_dbb_hap3	1217206	1217207	rs2571391	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-A	rs2571391-C	NR	1E-15		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
594	chr6_dbb_hap3	1227509	1227510	rs6935053	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p22.1	HCG9	rs6935053-?	NR	2E-6	(Conditioned on rs9271366)			Illumina [581060]	N
594	chr6_dbb_hap3	1228594	1228595	rs3893464	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs3893464-G	0.36	2E-20		1.53	[1.39-1.67]	Perlegen [268068]	N
594	chr6_dbb_hap3	1235276	1235277	rs2523946	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p22.1	NR	rs2523946-C	0.511	5E-11		1.317	[1.217-1.426]	Illumina [3792949] (imputed)	N
594	chr6_dbb_hap3	1235276	1235277	rs2523946	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p22.1	HLA-A	rs2523946-C	0.50	2E-11		1.21	[1.15-1.28]	Illumina [444882]	N
594	chr6_dbb_hap3	1235416	1235417	rs3823355	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p22.1	HLA-A, HCG9	rs3823355-T	0.29	9E-23		1.5	[1.39-1.63]	Illumina [520460]	N
594	chr6_dbb_hap3	1236400	1236401	rs6904029	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6p22.1	HLA-A29.1, HCG9	rs6904029-?		3E-6	(PC3)	0.0464	[NR] unit decrease	Illumina [4167292] (imputed)	N
594	chr6_dbb_hap3	1263934	1263935	rs7758512	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	HLA-A, ZNRD1, RNF39	rs7758512-?	NR	2E-8	(progression)			Illumina [NR]	N
594	chr6_dbb_hap3	1267267	1267268	rs4313034	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs4313034-T	0.83	2E-15		1.67	[1.47-1.90]	Perlegen [268068]	N
595	chr6_dbb_hap3	1310780	1310781	rs6917603	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	6p22.1	PPP1R11	rs6917603-?	NR	3E-29	(XXL-VLDL-P)	0.24	[0.2-0.28] unit decrease	Illumina [~ 7700000] (imputed)	N
595	chr6_dbb_hap3	1319232	1319233	rs259919	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	ZNRD1, C6orf12	rs259919-?	NR	3E-7	(setpoint)			Illumina [NR]	N
595	chr6_dbb_hap3	1326245	1326246	rs8321	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs8321-?	NR	8E-9	(5 degree of freedom test)	1.081	[1.04-1.12]	NR [1252901] (imputed)	N
595	chr6_dbb_hap3	1326245	1326246	rs8321	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p22.1	ZNRD1, RNF39	rs8321-G	NR	5E-7				Illumina [291119]	N
595	chr6_dbb_hap3	1369589	1369590	rs2023472	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	TRIM31	rs2023472-A	0.38	3E-15		0.03	[0.022-0.038] unit increase	Affymetrix [2500000] (imputed)	N
595	chr6_dbb_hap3	1371993	1371994	rs2523989	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p22.1	TRIM31	rs2523989-A	NR	2E-8		1.7499		Illumina [514008]	N
595	chr6_dbb_hap3	1374086	1374087	rs34704616	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6p22.1	XXbac-BPG250I8.13	rs34704616-?	NR	6E-6	(Colorword)			Illumina [up to 563855]	N
595	chr6_dbb_hap3	1387084	1387085	rs10947055	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6p22.1	TRIM38	rs10947055-?	NR	2E-7	(additive, recessive)			Affymetrix [361034]	N
595	chr6_dbb_hap3	1413614	1413615	rs9468692	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	TRIM10	rs9468692-?	NR	1E-6	(setpoint)			Illumina [NR]	N
596	chr6_dbb_hap3	1458962	1458963	rs2523722	22883433	Irish Schizophrenia Genomics Consortium & the Wellcome Trust Case Control Consortium 2	2012-08-07	Biol Psychiatry	Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.	Schizophrenia	1,606 European ancestry cases, 1,794 European ancestry controls	13,195 European ancestry cases, 31,021 European ancestry controls	6p22.1	MHC, TRIM26	rs2523722-G	0.737	1E-16		1.25	[1.12-1.39]	Affymetrix [6212339]	N
596	chr6_dbb_hap3	1467820	1467821	rs2021722	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs2021722-?	0.789	2E-12	(Modelling analysis)			NR [1252901] (imputed)	N
596	chr6_dbb_hap3	1467820	1467821	rs2021722	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	6p22.1	TRIM26	rs2021722-C	0.78	2E-12		1.15	[1.11-1.19]	Affymetrix, Illumina [1252901] (imputed)	N
596	chr6_dbb_hap3	1473105	1473106	rs2844775	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6p22.1	TRIM31, TRIM10, PPP1R11, TRIM40, TRIM15, HLA-A29.1, TRIM26, HCG9, ZNRD1, RNF39	rs2844775-A	0.25	8E-7	(Temperament)	0.15	[NR] unit decrease	Affymetrix [677643]	N
597	chr6_dbb_hap3	1592895	1592896	rs3094067	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	TRIM39, RPP21	rs3094067-G	0.096	2E-11		2.32	[1.68-3.20]	Affymetrix [906600]	N
597	chr6_dbb_hap3	1606993	1606994	rs6986	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6p22.1	NR	rs6986-C	0.2277	5E-6	(Trans-16:1n-7, EA)	0.0079	[0.0046-0.0112] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
598	chr6_dbb_hap3	1831240	1831241	rs3132613	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs3132613-C	0.25	1E-13		1.43	[1.30-1.57]	Perlegen [268068]	N
599	chr6_dbb_hap3	1960328	1960329	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937946818961625	6E-7	(IGP19)	0.3471	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
599	chr6_dbb_hap3	1960328	1960329	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937725588025022	3E-6	(IGP74)	0.3262	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
599	chr6_dbb_hap3	1960328	1960329	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937641317877842	2E-6	(IGP75)	0.3304	[0.19-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
599	chr6_dbb_hap3	1960328	1960329	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937418950958538	3E-6	(IGP69)	0.3228	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
599	chr6_dbb_hap3	1960328	1960329	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937308425901202	5E-7	(IGP76)	0.3469	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_dbb_hap3	1973286	1973287	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107712365538735	8E-6	(IGP65)	0.2214	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_dbb_hap3	1973286	1973287	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107418420152946	8E-6	(IGP2)	0.2231	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_dbb_hap3	1973286	1973287	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107325880449438	3E-6	(IGP42)	0.2336	[0.14-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_dbb_hap3	2029928	2029929	rs12526186	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	6p21.33	intergenic	rs12526186-?	NR	3E-6	(risperidone)	9.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
600	chr6_dbb_hap3	2031263	2031264	rs3094117	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p21.33	intergenic	rs3094117-?	0.77	2E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
600	chr6_dbb_hap3	2057377	2057378	rs3131060	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	FLOT1	rs3131060-A	0.112	1E-13		2.3	[1.71-3.11]	Affymetrix [906600]	N
600	chr6_dbb_hap3	2061021	2061022	rs4587207	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	6p21.33	FLOT1, LINC00243, IER3	rs4587207-G	0.20	2E-8	(EA)	3.14	[2.04-4.24] unit decrease	Affymetrix, Illumina [2033301]	N
600	chr6_dbb_hap3	2068445	2068446	rs3130783	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	IER3, DDR1	rs3130783-A	0.79	2E-11		1.16	[1.11-1.20]	Affymetrix, Illumina [2442884] (imputed)	N
600	chr6_dbb_hap3	2076115	2076116	rs886424	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	IER3, DDR1	rs886424-A	NR	3E-14		2.2107		Illumina [514008]	N
600	chr6_dbb_hap3	2076115	2076116	rs886424	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.33	other genes, MHC	rs886424-?	NR	9E-7		1.37	[NR]	Affymetrix [745006]	N
600	chr6_dbb_hap3	2089241	2089242	rs7772131	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	6p21.33	C6orf214	rs7772131-?	NR	3E-6	(AA)	6.73	[0.89-12.57] unit decrease	Affymetrix [~ 2300000] (imputed)	N
600	chr6_dbb_hap3	2092061	2092062	rs7749924	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs7749924-C	0.851598582628062	8E-6	(IGP32)	0.2204	[0.12-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_dbb_hap3	2093468	2093469	rs9501030	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.33	IER3, GTF2H4, FLOT1, VARS2, MIR588, DDR1	rs9501030-A	NR	4E-6	(Analysis II)			Illumina [313720]	N
601	chr6_dbb_hap3	2142355	2142356	rs7756521	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	VARS2, DDR1, DPCR1	rs7756521-?	NR	1E-6	(progression)			Illumina [NR]	N
601	chr6_dbb_hap3	2170263	2170264	rs1052693	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-A	rs1052693-G	0.36	3E-48	(Serum level of C4)	0.1	[0.080-0.120] g/L increase	Illumina [1940245] (imputed)	N
601	chr6_dbb_hap3	2207572	2207573	rs3132581	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.33	NR	rs3132581-G		2E-7	(Modelling analysis)			NR [1252901] (imputed)	N
601	chr6_dbb_hap3	2214238	2214239	rs3132580	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	DPCR1	rs3132580-T	0.1379	3E-40		2.74	[NR]	Illumina [242824]	N
602	chr6_dbb_hap3	2232996	2232997	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
602	chr6_dbb_hap3	2232996	2232997	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
602	chr6_dbb_hap3	2241622	2241623	rs3094084	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	MUC21, TRIM39, RPP21	rs3094084-T	0.154	2E-11		2.3	[1.76-3.01]	Affymetrix [906600]	N
602	chr6_dbb_hap3	2270329	2270330	rs28360974	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	6p21.33	MUC21	rs28360974-?	NR	3E-6	(Afro-Caribbean)	10.13	[3.85-26.67]	Illumina [2485249] (imputed)	N
602	chr6_dbb_hap3	2296554	2296555	rs7768644	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs7768644-A	0.091	3E-13	(trend)	5.01	[3.1-8.1] (allelic)	Affymetrix [522980]	N
602	chr6_dbb_hap3	2297069	2297070	rs4248154	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs4248154-C	0.54	1E-13		1.38	[1.27-1.50]	Perlegen [268068]	N
602	chr6_dbb_hap3	2301308	2301309	rs2844665	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	C6orf205	rs2844665-C	0.62	3E-7		1.54	[1.30-1.82]	Illumina [268914]	N
602	chr6_dbb_hap3	2314158	2314159	rs2251830	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	HCG22	rs2251830-A	0.36	5E-22		0.053	[0.041-0.065] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
602	chr6_dbb_hap3	2315588	2315589	rs2517532	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.33	HLA-C, LOC729792, HCG22, C6orf15, DHFRP2, HCP5, HLA-B	rs2517532-G	0.597	1E-8		1.16	[1.10-1.22]	Illumina [870065]	N
602	chr6_dbb_hap3	2315727	2315728	rs2523864	25813999	Jeong S	2015-04-01	Invest Ophthalmol Vis Sci	Identification of a Novel Mucin Gene HCG22 Associated with Steroid-Induced Ocular Hypertension.	Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)	64 European ancestry individuals	49 European ancestry individuals	6p21.33	HCG22, HLA-A, HLA-B, MUC22	rs2523864-T	0.412	5E-9				Illumina [1545328]	N
602	chr6_dbb_hap3	2321780	2321781	rs9262631	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9262631-A	0.063	6E-19	(trend)	7.09	[4.32-11.63] (allelic)	Affymetrix [522980]	N
602	chr6_dbb_hap3	2321987	2321988	rs9262632	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs9262632-G	0.10	1E-8	(AA)	3.1	[NR]	Illumina [1384048] (imputed)	N
602	chr6_dbb_hap3	2327301	2327302	rs2517510	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs2517510-T		4E-13	(WBC)	0.0129	[0.0094-0.0164] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
602	chr6_dbb_hap3	2355358	2355359	rs4947296	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	HCG22	rs4947296-?	NR	1E-11		2.57	[1.96-3.37]	Affymetrix [661736]	N
602	chr6_dbb_hap3	2355358	2355359	rs4947296	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	MUC21, C6orf15	rs4947296-C	0.14	4E-51		1.77	[1.65-1.91]	Illumina [486049]	N
602	chr6_dbb_hap3	2355520	2355521	rs3130544	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs3130544-A	NR	5E-7	(WBC)	0.0189	[0.011-0.026] unit decrease	Illumina [544917]	N
602	chr6_dbb_hap3	2355520	2355521	rs3130544	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	6p21.33	NR	rs3130544-A	0.13	2E-90		5.64	[4.77-6.67]	Illumina [274256]	N
602	chr6_dbb_hap3	2355520	2355521	rs3130544	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3130544-A	0.1238	9E-58		3.34	[NR]	Illumina [242824]	N
603	chr6_dbb_hap3	2366698	2366699	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		5E-6				NR [~ 3000000] (imputed)	N
603	chr6_dbb_hap3	2366698	2366699	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		2E-6				NR [~ 3000000] (imputed)	N
603	chr6_dbb_hap3	2371200	2371201	rs6457327	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.33	C6orf15	rs6457327-C	0.56	7E-6	(FL)	1.47	[1.27-1.72]	Illumina [312768]	N
603	chr6_dbb_hap3	2371200	2371201	rs6457327	19620980	Skibola CF	2009-07-20	Nat Genet	Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.	Follicular lymphoma	189 European ancestry cases, 592 European controls	456 European ancestry cases, 2,785 European ancestry controls	6p21.33	STG, PSORS1	rs6457327-C	0.62	5E-11		1.69	[1.43-2.00]	Illumina [~ 500000]	N
603	chr6_dbb_hap3	2378376	2378377	rs2233956	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs2233956-G	0.1813	6E-48		2.77	[NR]	Illumina [242824]	N
603	chr6_dbb_hap3	2382938	2382939	rs3094212	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	6p21.33	PSORS1C1, CDSN	rs3094212-C	0.35	7E-9		0.07	[0.046-0.094] unit increase	Illumina [561583]	N
603	chr6_dbb_hap3	2389135	2389136	rs9263688	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9263688-G	0.053	5E-21	(trend)	8.06	[4.86-13.37] (allelic)	Affymetrix [522980]	N
603	chr6_dbb_hap3	2390756	2390757	rs3815087	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	PSORS1C1	rs3815087-A	0.21	3E-7		1.53	[1.29-1.80]	Illumina [268914]	N
603	chr6_dbb_hap3	2390756	2390757	rs3815087	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	CDSN	rs3815087-?	NR	8E-8	(progression)			Illumina [NR]	N
603	chr6_dbb_hap3	2394466	2394467	rs3130559	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1	rs3130559-T	0.2	8E-9	(SP-D)			Illumina [588352]	N
603	chr6_dbb_hap3	2396738	2396739	rs4959053	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	PSORS1C1	rs4959053-?	.11	2E-20		4.38	[3.20-5.99]	Affymetrix [661736]	N
603	chr6_dbb_hap3	2398095	2398096	rs3823418	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	PSORS1C1	rs3823418-A	0.15	2E-7		0.026	[0.0084-0.0436] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
603	chr6_dbb_hap3	2398814	2398815	rs3130564	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	PSORS1C1	rs3130564-T	0.163	4E-10		2.05	[1.56-2.70]	Affymetrix [906600]	N
603	chr6_dbb_hap3	2398814	2398815	rs3130564	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	PSORS1C1	rs3130564-T	0.1934	1E-42		2.62	[NR]	Illumina [242824]	N
603	chr6_dbb_hap3	2400104	2400105	rs3132565	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs3132565-A	NR	1E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
603	chr6_dbb_hap3	2403405	2403406	rs3130573	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.33	PSORS1C1	rs3130573-G	0.32	6E-10		1.25	[1.17-1.35]	Illumina [489814]	N
603	chr6_dbb_hap3	2403596	2403597	rs1265097	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	PSORS1C1, PSORS1C2	rs1265097-A	0.115	2E-32		0.059	[0.049-0.069] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
603	chr6_dbb_hap3	2404324	2404325	rs1265093	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1, CCHCR1	rs1265093-A	0.26	6E-9	(SP-D)			Illumina [588352]	N
603	chr6_dbb_hap3	2404395	2404396	rs2285803	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	6p21.33	PSORS1C1, CCHCR1, TCF19, POU5F1, CDSN	rs2285803-A	0.32	1E-10		1.192	[1.13-1.26]	Illumina [414804]	N
603	chr6_dbb_hap3	2408485	2408486	rs9263739	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.33	HLA	rs9263739-T	0.15	4E-67		2.73	[2.43-3.07]	Illumina [513923]	N
603	chr6_dbb_hap3	2415134	2415135	rs1265112	21810746	Chantarangsu S	2011-08-01	Clin Infect Dis	Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.	Nevirapine-induced rash	72 Thai ancestry nevirapine-induced rash HIV cases, 77 Thai ancestry nevirapine-tolerant rash HIV cases	88 Thai ancestry nevirapine-induced rash HIV cases, 145 Thai ancestry nevirapine-tolerant HIV cases	6p21.33	CCHCR1	rs1265112-G	0.06	1E-8		4.36	[2.58-7.36]	Illumina [499730]	N
603	chr6_dbb_hap3	2415626	2415627	rs130067	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	6p21.33	CCHCR1	rs130067-G	0.21	3E-8		1.05	[1.02-1.09]	NR [2600000] (imputed)	N
603	chr6_dbb_hap3	2426432	2426433	rs7750641	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	TCF19	rs7750641-T	0.1263	3E-58		3.35	[NR]	Illumina [242824]	N
603	chr6_dbb_hap3	2427715	2427716	rs1419881	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	TCF19	rs1419881-G	0.55	3E-7		1.12	[1.08-1.18]	Illumina [3680900] (imputed)	N
603	chr6_dbb_hap3	2427715	2427716	rs1419881	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	TCF19	rs1419881-?	NR	1E-18		1.37	[1.23-1.52]	Illumina [719265]	N
603	chr6_dbb_hap3	2432026	2432027	rs3130931	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130931-C	0.69	8E-7		1.54	[1.29-1.84]	Illumina [268914]	N
603	chr6_dbb_hap3	2433590	2433591	rs3130501	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130501-G	0.74	2E-8		1.74	[1.43-2.13]	Illumina [268914]	N
603	chr6_dbb_hap3	2433851	2433852	rs3132524	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p21.33	TCF19, POU5F1	rs3132524-G		4E-9		1.07	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
603	chr6_dbb_hap3	2436592	2436593	rs879882	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs879882-?	NR	2E-7	(Conditioned on rs2256183)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
603	chr6_dbb_hap3	2437187	2437188	rs1265159	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs1265159-T	0.2191	4E-37		2.42	[NR]	Illumina [242824]	N
603	chr6_dbb_hap3	2439385	2439386	rs3094188	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.33	PSORS1C3	rs3094188-C	0.280	7E-7		1.61	[1.33-1.94]	Illumina [4929034] (imputed)	N
603	chr6_dbb_hap3	2439385	2439386	rs3094188	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3094188-A	0.63	3E-8		1.59	[1.34-1.88]	Illumina [268914]	N
603	chr6_dbb_hap3	2440722	2440723	rs3131018	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	PSORS1C3	rs3131018-C	0.625	4E-16	(EA)	2.1	[NR]	Illumina [1384048] (imputed)	N
603	chr6_dbb_hap3	2452932	2452933	rs1265181	19169255	Zhang XJ	2009-01-25	Nat Genet	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	Psoriasis	1,139 Han Chinese ancestry cases, 1,132 Han Chinese ancestry controls	5,721 Chinese ancestry cases, 7,340 Chinese ancestry controls	6p21.33	MHC	rs1265181-?	NR	2E-208		22.62		Illumina [494902]	N
603	chr6_dbb_hap3	2465168	2465169	rs6903896	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	6p21.33	NR	rs6903896-?	NR	6E-7	(sneeze)			Illumina [535076]	N
603	chr6_dbb_hap3	2467664	2467665	rs9263871	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.33	HCG27	rs9263871-G	NR	9E-6	(Dominant)	1.7	[1.35-2.13]	Affymetrix, Illumina [1621689] (imputed)	N
603	chr6_dbb_hap3	2481329	2481330	rs3869109	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	6p21.33	HCG27, HLA-C	rs3869109-G	NR	1E-9		1.14	[NR]	Affymetrix [~ 5000000] (imputed)	N
603	chr6_dbb_hap3	2483160	2483161	rs9263963	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9263963-T	0.113293342563644	1E-6	(IGP23)	0.2567	[0.15-0.36] unit increase	Illumina [~ 2500000] (imputed)	N
604	chr6_dbb_hap3	2494640	2494641	rs3130941	24324648	Yatagai Y	2013-12-04	PLoS One	Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.	IgE levels	967 Japanese ancestry individuals, 213 Japanese ancestry asthmatic individuals	1,894 Japanese ancestry individuals, 580 Japanese ancestry asthmatic individuals	6p21.33	HCG27, HLA-C	rs3130941-C	0.25	1E-10		0.098	unit increase	Illumina [479940]	N
604	chr6_dbb_hap3	2517269	2517270	rs3095254	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	6p21.33	MHC	rs3095254-C	0.461	8E-9	(Japanese)	0.035	[0.023-0.047] unit increase	Illumina [NR] (imputed)	N
604	chr6_dbb_hap3	2517269	2517270	rs3095254	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs3095254-C	0.46	6E-11	(monocyte count)	0.074	[0.05-0.09] unit increase	Illumina [2178645] (imputed)	N
604	chr6_dbb_hap3	2527702	2527703	rs3130542	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.16	9E-7		1.17	[1.10-1.24]	Illumina [3680900] (imputed)	N
604	chr6_dbb_hap3	2527702	2527703	rs3130542	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.13	9E-14		1.33	[1.23-1.44]	Illumina [490610]	N
604	chr6_dbb_hap3	2531112	2531113	rs2853953	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs2853953-A	0.9	5E-20		1.47	[1.35-1.59]	Illumina [3680900] (imputed)	N
604	chr6_dbb_hap3	2533919	2533920	rs9264638	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals			HLA-C	rs9264638-A	0.58	2E-23		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
604	chr6_dbb_hap3	2536023	2536024	rs2074488	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	HLA-C	rs2074488-T	0.13	2E-10	(SP-D)			Illumina [588352]	N
604	chr6_dbb_hap3	2536700	2536701	rs13191343	20953186	Huffmeier U	2010-10-17	Nat Genet	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	Psoriatic arthritis	572 European ancestry cases, 888 European ancestry controls	Up to 1,761 European ancestry cases, 3,727 European ancestry controls	6p21.33	HLA-C	rs13191343-T	0.13	2E-72		2.37	[2.16-2.61]	Affymetrix [1585307] (imputed)	N
604	chr6_dbb_hap3	2537738	2537739	rs2524079	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C3, HCG27, HLA-C, HLA-B	rs2524079-A		1E-11	(Lymphocytes)	0.0148	[0.010-0.019] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
604	chr6_dbb_hap3	2540525	2540526	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	6E-10		0.23	[NR] unit increase	Illumina [12100000] (imputed)	N
604	chr6_dbb_hap3	2540525	2540526	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	4E-10		0.25	[NR] unit increase	Illumina [12100000] (imputed)	N
604	chr6_dbb_hap3	2542750	2542751	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.717	8E-6	(Japanese)	0.013	[0.0071-0.0189] unit decrease	Illumina [NR] (imputed)	N
604	chr6_dbb_hap3	2542750	2542751	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.348	1E-8	(EA)	0.017	[0.011-0.023] unit decrease	Illumina [NR] (imputed)	N
604	chr6_dbb_hap3	2542750	2542751	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-?	NR	3E-14		0.0139	[0.010-0.017] unit decrease	Illumina [NR] (imputed)	N
604	chr6_dbb_hap3	2547943	2547944	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	6E-21	(CD8)	0.31	[0.25-0.37] SD decrease	Illumina [529721]	N
604	chr6_dbb_hap3	2547943	2547944	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	2E-28	(CD4:CD8)	0.37	[0.31-0.43] SD increase	Illumina [529721]	N
604	chr6_dbb_hap3	2548472	2548473	rs12191877	20953188	Ellinghaus E	2010-10-17	Nat Genet	Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.	Psoriasis	472 European ancestry cases, 1,146 European ancestry controls	2,668, European ancestry cases, 762 French Canadian founder population cases, 2,585 cases, 3,485 European ancestry controls, 994 French Canadian founder population controls, 2,412 controls	6p21.33	HLA-C	rs12191877-?	NR	4E-32		2.79	[2.35-3.33]	Illumina [2339118] (imputed)	N
604	chr6_dbb_hap3	2548472	2548473	rs12191877	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	6p21.33	HLA-C	rs12191877-T	0.15	1E-100		2.64	[NR]	Perlegen [~ 2500000] (imputed)	N
604	chr6_dbb_hap3	2554384	2554385	rs9468925	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA	rs9468925-?	0.617	2E-33		1.35	[1.28-1.41]	Illumina [493909]	N
604	chr6_dbb_hap3	2559312	2559313	rs2894207	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.33	HLA-C, HLA-B	rs2894207-?	0.82	3E-33		1.64	[1.52-1.75]	Illumina [464328]	N
604	chr6_dbb_hap3	2561039	2561040	rs2247056	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	HLA-C, HLA-B	rs2247056-T	0.27	4E-12		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
604	chr6_dbb_hap3	2561039	2561040	rs2247056	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	6p21.33	HLA	rs2247056-T	0.25	2E-15		2.99	[2.17-3.81] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
604	chr6_dbb_hap3	2567263	2567264	rs9461688	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6p21.33	HLA-C	rs9461688-?	0.31	4E-6	(IL18)			Illumina [496032]	N
604	chr6_dbb_hap3	2567808	2567809	rs6457374	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	HLA-C	rs6457374-T	0.73	8E-35		0.041	[0.035-0.047] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
604	chr6_dbb_hap3	2567868	2567869	rs9368677	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.33	HLA-C	rs9368677-G	0.798	1E-17		1.36	[1.27-1.46]	Illumina [606164]	N
604	chr6_dbb_hap3	2569927	2569928	rs9264942	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.33	NR	rs9264942-?	NR	5E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
604	chr6_dbb_hap3	2569927	2569928	rs9264942	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.33	PSORS1C1, NFKBIL1, HLA-C, MICB	rs9264942-C	0.378	5E-28		1.145	[1.107-1.184]	Affymetrix, Illumina [1230000] (imputed)	N
604	chr6_dbb_hap3	2569927	2569928	rs9264942	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-C	rs9264942-C	0.34	3E-35	(EA)	2.9	[NR]	Illumina [1384048] (imputed)	N
604	chr6_dbb_hap3	2569927	2569928	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-C	0.412	6E-32	(setpoint)	5.3	[NR] % increase	Illumina [NR]	N
604	chr6_dbb_hap3	2569927	2569928	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-?	NR	6E-12	(progression)			Illumina [NR]	N
604	chr6_dbb_hap3	2570102	2570103	rs10484554	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6p21.33	HLA-C	rs10484554-?	NR	4E-214		4.66	[4.23-5.13]	Illumina [535475]	N
604	chr6_dbb_hap3	2570102	2570103	rs10484554	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	HLA-C	rs10484554-T	0.13	6E-8				Illumina [291119]	N
604	chr6_dbb_hap3	2570102	2570103	rs10484554	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs10484554-T	0.15	2E-39		2.8	[2.40-3.30]	Illumina [305983]	N
604	chr6_dbb_hap3	2597643	2597644	rs3134792	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3134792-C	0.114	6E-72		3.93	[NR]	Illumina [242824]	N
604	chr6_dbb_hap3	2597643	2597644	rs3134792	18364390	Capon F	2008-03-25	Hum Mol Genet	Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.	Psoriasis	318 European ancestry cases, 288 European ancestry controls	2,361 European ancestry cases, 1,927 European ancestry controls	6p21.33	HLA-C	rs3134792-?	NR	1E-9				Illumina [~ 408000]	N
604	chr6_dbb_hap3	2605869	2605870	rs2442719	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.33	HLA-C, HLA-B	rs2442719-A	0.4161	8E-7	(Han)	0.3298	unit decrease	Illumina [up to 528294]	N
605	chr6_dbb_hap3	2723723	2723724	rs2596449	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs2596449-A	0.047	2E-13	(trend)	6.35	[3.68-10.96] (allelic)	Affymetrix [522980]	N
605	chr6_dbb_hap3	2725415	2725416	rs1055569	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Psychotic symptoms and prion disease	Up to 170 cases, 5,200 controls	NA	6p21.33	HCG26	rs1055569-?	0.291	3E-6		2.36	[1.66-3.35]	Illumina [518938]	N
605	chr6_dbb_hap3	2726002	2726003	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	3E-9		0.0069	[0.0046-0.0092] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
605	chr6_dbb_hap3	2726002	2726003	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	1E-9		0.0079	[0.0054-0.0105] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
605	chr6_dbb_hap3	2732129	2732130	rs2248462	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.33	MICB	rs2248462-?	NR	7E-16	(Total cHL)	1.64	[1.45-1.85]	Illumina [502514]	N
605	chr6_dbb_hap3	2734195	2734196	rs3749946	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	3.8-1, HCG26	rs3749946-A	0.07	2E-15		1.97	[1.66-2.33]	Illumina [480391]	N
605	chr6_dbb_hap3	2734309	2734310	rs3099844	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	6p21.33	HCG26, MICB	rs3099844-A	0.08	2E-8	(HDL)	0.15	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
605	chr6_dbb_hap3	2734309	2734310	rs3099844	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	6p21.33	NFKBIL1, LTA, AIF1, TNF, LTB	rs3099844-?	0.11	5E-10		3.34	[2.29-4.89]	Illumina [346110]	N
606	chr6_dbb_hap3	2758315	2758316	rs2855812	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	MICB	rs2855812-T	NR	2E-7	(FEV1)	0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_dbb_hap3	2761081	2761082	rs3132468	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	6p21.33	MICB	rs3132468-?	0.13	4E-11		1.34	[1.23-1.46]	Illumina [481342]	N
606	chr6_dbb_hap3	2766892	2766893	rs2516399	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs2516399-A	0.81	2E-12	(eosinophil count)	0.105	[0.08-0.14] unit increase	Illumina [2178645] (imputed)	N
606	chr6_dbb_hap3	2785182	2785183	rs3853601	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	6p21.33	BAT1	rs3853601-G	0.12	2E-6		1.13	[1.08-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_dbb_hap3	2791059	2791060	rs2734583	21912425	Tohkin M	2011-09-13	Pharmacogenomics J	A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.	Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)	14 Japanese ancestry cases, 991 Japanese ancestry controls	NA	6p21.33	PSORS1C1, PSORS1C3, BAT1, HLA-C, MICC, PPIAP9, POLR2LP, CCHCR1, TCF19, HLA-B*5801, HCP5, POU5F1	rs2734583-?	0.0055	2E-8		66.8	[19.8-225.0]	Illumina [890321]	N
606	chr6_dbb_hap3	2827848	2827849	rs1799964	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6p21.33	HLA-DQA2, LTA, TNF, LST1, LTB	rs1799964-C	0.209	4E-11		1.19	[1.13-1.25]	Affymetrix, Illumina [953241] (imputed)	N
606	chr6_dbb_hap3	2843335	2843336	rs11575839	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-C	rs11575839-A	0.05	1E-54	(Serum level of C4)	0.23	[0.21-0.25] g/L decrease	Illumina [1940245] (imputed)	N
606	chr6_dbb_hap3	2854024	2854025	rs2857595	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	NFKBIL1, LTA, NCR3	rs2857595-T	NR	2E-23		2.3765		Illumina [514008]	N
606	chr6_dbb_hap3	2854024	2854025	rs2857595	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	6p21.33	AIF1, HLA	rs2857595-?	0.50	2E-15		1.3	[1.22-1.39]	Affymetrix [662108]	N
606	chr6_dbb_hap3	2854024	2854025	rs2857595	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	NCR3	rs2857595-?	NR	8E-8	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
606	chr6_dbb_hap3	2854024	2854025	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	2E-10	(FEV1/FVC)	0.037	[0.025-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_dbb_hap3	2854024	2854025	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	1E-6	(FEV1)	0.025	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_dbb_hap3	2858508	2858509	rs2844479	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	AIF1	rs2844479-A	0.66	3E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
606	chr6_dbb_hap3	2858508	2858509	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393698650943396	4E-6	(IGP60)	0.151	[0.087-0.215] unit increase	Illumina [~ 2500000] (imputed)	N
606	chr6_dbb_hap3	2858508	2858509	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393631380483438	4E-6	(IGP6)	0.1506	[0.086-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
606	chr6_dbb_hap3	2858508	2858509	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393516127507802	9E-6	(IGP61)	0.1445	[0.081-0.208] unit increase	Illumina [~ 2500000] (imputed)	N
606	chr6_dbb_hap3	2858508	2858509	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393054780607685	7E-6	(IGP58)	0.1476	[0.083-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
606	chr6_dbb_hap3	2858508	2858509	rs2844479	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	6p21.33	AIF1, NCR3	rs2844479-T	0.68	2E-8		3.58	[2.33-4.83] percentage SD increase	Illumina [305846]	N
606	chr6_dbb_hap3	2860842	2860843	rs9348876	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	6p21.33	AIF1	rs9348876-T	0.06	3E-6		1.41	[1.22-1.63]	Illumina [508934]	N
606	chr6_dbb_hap3	2873955	2873956	rs2857693	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	BAT2	rs2857693-T	0.38	3E-29		0.034	[0.028-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
606	chr6_dbb_hap3	2876472	2876473	rs2736172	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	6p21.33	TNF, MICB	rs2736172-?		4E-6				Affymetrix [545513]	N
606	chr6_dbb_hap3	2881453	2881454	rs1046080	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6p21.33	PRRC2A	rs1046080-A	0.74	1E-14	(X-11444/X-11470)	0.027	[0.019-0.035] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
607	chr6_dbb_hap3	2887414	2887415	rs3115663	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT2	rs3115663-G	0.1812	7E-57		3.04	[NR]	Illumina [242824]	N
607	chr6_dbb_hap3	2888538	2888539	rs1046089	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.33	PRRC2A, BAG6	rs1046089-G	0.34	4E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
607	chr6_dbb_hap3	2888538	2888539	rs1046089	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	6p21.33	NR	rs1046089-A	0.3492	4E-11		0.1919	[0.13-0.25] years increase	NR [NR]	N
607	chr6_dbb_hap3	2888538	2888539	rs1046089	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	6p21.33	PRRC2A	rs1046089-A	0.353	2E-16		0.213	[0.16-0.26] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
607	chr6_dbb_hap3	2901940	2901941	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	2E-11		0.376	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_dbb_hap3	2901940	2901941	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	1E-10		0.054	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_dbb_hap3	2901940	2901941	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	3E-11		0.228	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_dbb_hap3	2906098	2906099	rs3117582	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p21.33	APOM, BAT3	rs3117582-C	0.10	5E-12		1.22	[1.15-1.29]	Illumina [515922]	N
607	chr6_dbb_hap3	2906098	2906099	rs3117582	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	6p21.33	BAT3	rs3117582-?	NR	4E-10		1.24	[1.16-1.33]	Illumina [511919]	N
607	chr6_dbb_hap3	2906098	2906099	rs3117582	18978787	Wang Y	2008-11-02	Nat Genet	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.	Lung cancer	5,095 European ancestry cases, 5,200 European ancestry cases	2,448 European ancestry cases, 2,983 European ancestry controls	6p21.33	BAT3, MSH5	rs3117582-C	NR	5E-10		1.24	[1.16-1.33]	Illumina [223891]	N
607	chr6_dbb_hap3	2908184	2908185	rs805297	21844665	Hu HJ	2011-08-16	Exp Mol Med	Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis.	Rheumatoid arthritis	100 Korean ancestry cases, 600 Korean ancestry controls	578 Korean ancestry cases, 711 Korean ancestry controls	6p21.33	APOM	rs805297-A	0.36	3E-10		1.56	[1.36-1.80]	Affymetrix [300909]	N
607	chr6_dbb_hap3	2917712	2917713	rs3130618	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	GPANK1	rs3130618-C	0.79	2E-7		1.34	[1.20-1.49]	Illumina [8129524] (imputed)	N
607	chr6_dbb_hap3	2917712	2917713	rs3130618	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT4	rs3130618-A	0.1811	2E-56		3.03	[NR]	Illumina [242824]	N
607	chr6_dbb_hap3	2922321	2922322	rs9267531	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	CSNK2B	rs9267531-?	NR	8E-8				Affymetrix [up to 700598]	N
607	chr6_dbb_hap3	2922321	2922322	rs9267531	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	CSNK2B, MSH5, MICA, MICB	rs9267531-G	0.1	3E-14		2.62	[1.93-3.54]	Affymetrix [906600]	N
607	chr6_dbb_hap3	3006610	3006611	rs3131379	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	MSH5	rs3131379-?	NR	8E-8				Affymetrix [up to 700598]	N
607	chr6_dbb_hap3	3006610	3006611	rs3131379	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	6p21.33	HLA region	rs3131379-A	0.1	2E-52		2.36	[2.11-2.64]	Illumina [317501]	N
608	chr6_dbb_hap3	3064115	3064116	rs2075799	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2075799-T	0.20	6E-97	(Serum level of C4)	0.17	[0.15-0.19] g/L decrease	Illumina [1940245] (imputed)	N
608	chr6_dbb_hap3	3088051	3088052	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824607758652095	1E-6	(IGP41)	0.1858	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_dbb_hap3	3088051	3088052	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824401248864668	4E-6	(IGP1)	0.1774	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_dbb_hap3	3088051	3088052	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.823257144469526	3E-7	(IGP19)	0.1964	[0.12-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_dbb_hap3	3088127	3088128	rs9368699	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	SNORD52	rs9368699-?	NR	5E-8	(progression)			Illumina [NR]	N
608	chr6_dbb_hap3	3088715	3088716	rs17201248	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs17201248-T	0.092	3E-7	(trend)	3.48	[2.09-5.81] (allelic)	Affymetrix [522980]	N
608	chr6_dbb_hap3	3112290	3112291	rs67682613	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs67682613-G	NR	7E-19		1.1494253	[NR]	Illumina [7158791] (imputed)	N
608	chr6_dbb_hap3	3122647	3122648	rs11966200	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA-C, HLA-B	rs11966200-A	0.06	1E-48		1.9	[1.74-2.07]	Illumina [493909]	N
608	chr6_dbb_hap3	3124294	3124295	rs494620	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	6p21.33	NR	rs494620-?	NR	5E-7		0.3	[0.18-0.42] years increase	Illumina [315418]	N
608	chr6_dbb_hap3	3128179	3128180	rs12661281	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	6p21.33	SLC44A4	rs12661281-?	NR	1E-11		1.27	[NR]	Illumina [4471719] (imputed)	N
608	chr6_dbb_hap3	3129505	3129506	rs2736428	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	6p21.33	SLC44A4	rs2736428-T	NR	3E-6		0.05	[0.03-0.07] kb increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr6_dbb_hap3	3136815	3136816	rs652888	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	EHMT2	rs652888-G	0.24	1E-6		1.14	[1.08-1.19]	Illumina [3680900] (imputed)	N
608	chr6_dbb_hap3	3136815	3136816	rs652888	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	EHMT2	rs652888-?	NR	7E-13		1.38	[1.22-1.57]	Illumina [719265]	N
608	chr6_dbb_hap3	3136815	3136816	rs652888	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	EHMT2	rs652888-C	0.2021	3E-46		2.71	[NR]	Illumina [242824]	N
609	chr6_dbb_hap3	3152834	3152835	rs9267663	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	6p21.33	EHMT2	rs9267663-T	NR	6E-6		0.29	[0.16-0.42] unit decrease	Illumina [628922]	N
609	chr6_dbb_hap3	3155907	3155908	rs558702	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.33	C2	rs558702-A	0.1	8E-21		2.276	[2.097-2.47]	Illumina [NR]	N
609	chr6_dbb_hap3	3156437	3156438	rs9267665	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.33	HLA	rs9267665-?	NR	1E-17		2.05	[1.64-2.57]	Illumina [455508]	N
609	chr6_dbb_hap3	3169264	3169265	rs9267673	21105107	Clifford RJ	2010-12-01	Hepatology	Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.	Hepatocellular carcinoma	180 Korean ancestry cases, 271 Korean ancestry controls	206 Korean ancestry cases, 416 East Asian ancestry controls,	6p21.33	C2	rs9267673-?	0.08	2E-6		1.97	[1.47-2.64]	Affymetrix [658897]	N
609	chr6_dbb_hap3	3189390	3189391	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	C2	rs9332739-?	0.955	1E-6		2.63	[1.79-3.85]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_dbb_hap3	3189390	3189391	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	C2	rs9332739-?	0.955	2E-8		2.08	[1.61-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_dbb_hap3	3189390	3189391	rs9332739	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	C2	rs9332739-?	0.96	2E-23		2.17	[NR]	Affymetrix [6036699] (imputed)	N
609	chr6_dbb_hap3	3191597	3191598	rs9380272	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs9380272-A	0.012	2E-8		4.31	[2.76-6.87]	Illumina [~ 2500000] (imputed)	N
609	chr6_dbb_hap3	3199766	3199767	rs12614	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	CFB	rs12614-T	0.92	1E-34		1.89	[1.69-2.08]	Illumina [3680900] (imputed)	N
609	chr6_dbb_hap3	3199767	3199768	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	CFB	rs641153-?	0.899	2E-9		2.13	[1.69-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_dbb_hap3	3199767	3199768	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	CFB	rs641153-?	0.899	1E-17		2.22	[1.85-2.63]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_dbb_hap3	3199767	3199768	rs641153	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	CFB	rs641153-?	0.90	6E-31		1.85	[NR]	Affymetrix [6036699] (imputed)	N
609	chr6_dbb_hap3	3199767	3199768	rs641153	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	6p21.33	CFB, C2	rs641153-?	NR	2E-20				Affymetrix [632932]	N
609	chr6_dbb_hap3	3202538	3202539	rs541862	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.33	CFB	rs541862-T	0.99	9E-17		1.89	[1.61-2.17]	Illumina [2272849] (imputed)	N
609	chr6_dbb_hap3	3203127	3203128	rs4151657	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	CFB, BAT2, MSH5, HSPA1L, SLC44A4	rs4151657-G	0.29	5E-14		1.54	[1.38-1.73]	Illumina [480391]	N
609	chr6_dbb_hap3	3204447	3204448	rs1270942	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	BAT2, HSPA1L, CFB, TNXB, NOTCH4	rs1270942-C	NR	5E-25		3.0494		Illumina [514008]	N
609	chr6_dbb_hap3	3205504	3205505	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (extreme sampling)	720 European ancestry grade 5 cases, 513 European ancestry grade 1 controls	70 European ancestry grade 5 cases, 73 European ancestry grade 1 controls	6p21.33	RDBP, CFB, DKFZp779M0311	rs522162-?	0.93	3E-7		2.38	[1.69-3.33]	Affymetrix [2543887] (imputed)	N
609	chr6_dbb_hap3	3205504	3205505	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	RDBP, CFB, ATF6B, STK19	rs522162-?	0.93	2E-10		2.33	[1.82-3.03]	Affymetrix [2543887] (imputed)	N
609	chr6_dbb_hap3	3215933	3215934	rs2734331	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p21.33	SKIV2L	rs2734331-A	0.97	7E-13	(X-11470)	0.073	[0.053-0.093] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
609	chr6_dbb_hap3	3216023	3216024	rs592229	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	6p21.33	HLA	rs592229-G	0.43	2E-8		0.048	[0.030-0.066] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
609	chr6_dbb_hap3	3216023	3216024	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370399655280899	4E-6	(IGP42)	0.1536	[0.088-0.219] unit increase	Illumina [~ 2500000] (imputed)	N
609	chr6_dbb_hap3	3216023	3216024	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370283129554656	9E-6	(IGP2)	0.1479	[0.083-0.213] unit increase	Illumina [~ 2500000] (imputed)	N
609	chr6_dbb_hap3	3216044	3216045	rs429608	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	CFB, C2	rs429608-G	0.86	4E-89		1.74	[1.68-1.79]	Affymetrix, Illumina [2442884] (imputed)	N
609	chr6_dbb_hap3	3216044	3216045	rs429608	20861866	Kopplin LJ	2010-09-23	Genes Immun	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Age-related macular degeneration	684 European ancestry cases, 188 European ancestry controls	1,896 European ancestry cases, 1,866 European ancestry controls	6p21.33	BF, SKIV2L	rs429608-?	NR	5E-15		1.85	[NR]	Affymetrix [> 361556] (imputed)	N
609	chr6_dbb_hap3	3216044	3216045	rs429608	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs429608-G	0.842	3E-21		2.16	[1.84-2.53]	Illumina [~ 2500000] (imputed)	N
609	chr6_dbb_hap3	3218743	3218744	rs406936	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	SKIV2L	rs406936-?	0.10	7E-7		1.75	[1.41-2.17]	Affymetrix [2543887] (imputed)	N
609	chr6_dbb_hap3	3226479	3226480	rs389884	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	CFB, STK19, ZBTB12	rs389884-C	0.0953	2E-8	(EA, WBC)	0.0254	[0.017-0.034] unit decrease	Illumina [544917]	N
609	chr6_dbb_hap3	3226479	3226480	rs389884	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs389884-C	0.1148	8E-66		3.65	[NR]	Illumina [242824]	N
610	chr6_dbb_hap3	3286111	3286112	rs6455	26385043	Kertai MD	2015-06-17	Am Heart J	Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery.	Postoperative atrial fibrillation in coronary artery bypass grafting surgery	620 European ancestry cases, 257 European ancestry controls	220 cases, 84 controls	6p21.33	CYP21A2	rs6455-G	0.015	3E-6		1.96	[0.51-7.58]	Illumina [524975]	N
610	chr6_dbb_hap3	3298962	3298963	rs2857009	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2857009-G	0.20	1E-22	(Serum level of C4)	0.08	[0.060-0.100] g/L increase	Illumina [1940245] (imputed)	N
610	chr6_dbb_hap3	3306023	3306024	rs12198173	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	TNXB	rs12198173-?	NR	3E-6	(progression)			Illumina [NR]	N
610	chr6_dbb_hap3	3324064	3324065	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	3E-9		0.68	[0.44-0.92] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_dbb_hap3	3324064	3324065	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	6p21.33	CYP21A2	rs2021783-C	0.79	4E-11				Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_dbb_hap3	3324064	3324065	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	2E-12		0.49	[0.35-0.63] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_dbb_hap3	3329280	3329281	rs185819	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.33	HLA class III	rs185819-T	0.52	3E-8		5.2	[3.44-6.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
610	chr6_dbb_hap3	3329971	3329972	rs1150754	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.33	TNXB	rs1150754-A	0.13	6E-29	(anti-dsDNA +)	2.21	[1.93-2.53]	Illumina [421318] (imputed)	N
610	chr6_dbb_hap3	3339065	3339066	rs1150753	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	TNXB	rs1150753-?	NR	6E-9				Affymetrix [up to 700598]	N
610	chr6_dbb_hap3	3349250	3349251	rs41268896	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	c6orf10	rs41268896-A	NR	4E-8		1.298	[1.238-1.361]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
610	chr6_dbb_hap3	3350182	3350183	rs41268902	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs41268902-A	NR	5E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
610	chr6_dbb_hap3	3350191	3350192	rs3117181	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p21.32	TNXB	rs3117181-C	NR	5E-7	(DPA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
610	chr6_dbb_hap3	3353977	3353978	rs12153855	23886662	Weidinger S	2013-07-25	Hum Mol Genet	A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.	Atopic dermatitis	1563 European ancestry cases, 4,054 European ancestry controls	2,286 European ancestry cases, 3,160 European ancestry controls	6p21.32	TNXB, CREBL1	rs12153855-T	NR	3E-14		1.581	[1.405-1.779]	Illumina [2406139] (imputed)	N
610	chr6_dbb_hap3	3353977	3353978	rs12153855	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	TNXB	rs12153855-C	0.011	1E-9		1.44	[1.28-1.63]	Illumina [2272849] (imputed)	N
610	chr6_dbb_hap3	3355672	3355673	rs2269426	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	6p21.32	MHC	rs2269426-T	0.76	3E-6	(EA)	4.6	[2.7-6.6] % standard unit increase	Illumina [312179]	N
610	chr6_dbb_hap3	3358740	3358741	rs17207986	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.32	MHC	rs17207986-G	NR	1E-16	(Analysis III)	3.95	[NR]	Illumina [313720]	N
610	chr6_dbb_hap3	3389147	3389148	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	4E-11		0.0266	[0.019-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
610	chr6_dbb_hap3	3389147	3389148	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	3E-9	(EA)	0.025	[0.017-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
610	chr6_dbb_hap3	3389147	3389148	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
610	chr6_dbb_hap3	3389147	3389148	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
610	chr6_dbb_hap3	3389147	3389148	rs204999	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs204999-G	0.2643	9E-40		2.44	[NR]	Illumina [242824]	N
610	chr6_dbb_hap3	3393685	3393686	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196796488164359	4E-6	(IGP18)	0.1779	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
610	chr6_dbb_hap3	3393685	3393686	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.19676420855615	4E-6	(IGP25)	0.1773	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
610	chr6_dbb_hap3	3393685	3393686	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196432337204109	4E-8	(IGP23)	0.2111	[0.14-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
610	chr6_dbb_hap3	3401644	3401645	rs3096696	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	PPT2	rs3096696-A		4E-6		1.478		Affymetrix [NR]	N
610	chr6_dbb_hap3	3406680	3406681	rs3134950	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	6p21.32	AGPAT1, PPT2	rs3134950-A	0.625	6E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
610	chr6_dbb_hap3	3406680	3406681	rs3134950	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		6p21.32	EGFL8, AGPAT1, PPT2	rs3134950-A	NR	1E-6		0.0945	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_dbb_hap3	3484245	3484246	rs549182	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	NOTCH4	rs549182-A	0.11	8E-10		1.59	[1.37-1.85]	Illumina [480391]	N
611	chr6_dbb_hap3	3484310	3484311	rs9267911	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	PBX2, NOTCH4	rs9267911-T	0.479	3E-7		1.5	[1.29-1.76]	Illumina [4929034] (imputed)	N
611	chr6_dbb_hap3	3487525	3487526	rs424232	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	6p21.32	HLA	rs424232-C		5E-21				Illumina [944512] (imputed)	N
611	chr6_dbb_hap3	3489998	3489999	rs419132	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6p21.32	HLA-area	rs419132-G	0.2	5E-12		0.056	[0.04-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
611	chr6_dbb_hap3	3496288	3496289	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-C	0.585	6E-6	(EA)	0.02	[0.012-0.028] unit increase	Illumina [NR] (imputed)	N
611	chr6_dbb_hap3	3496288	3496289	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-?	NR	3E-8		0.0196	[0.013-0.026] unit decrease	Illumina [NR] (imputed)	N
611	chr6_dbb_hap3	3496428	3496429	rs9267972	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	C6orf10, NOTCh4	rs9267972-A	NR	2E-6	(Dominant)	1.85	[1.46,2.33]	Affymetrix, Illumina [1621689] (imputed)	N
611	chr6_dbb_hap3	3498039	3498040	rs3115573	20595679	Feehally J	2010-07-01	J Am Soc Nephrol	HLA has strongest association with IgA nephropathy in genome-wide analysis.	Nephropathy	187 European ancestry child cases, 244 European ancestry cases, 4,980 European ancestry controls	NA	6p21.32	intergenic	rs3115573-?	NR	1E-9		1.62	[1.39-1.90]	Illumina [286200]	N
611	chr6_dbb_hap3	3498185	3498186	rs9296015	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs9296015-?	0.81	1E-8	(ATA positive)	1.85	[1.49-2.27]	Illumina [NR] (imputed)	N
611	chr6_dbb_hap3	3498185	3498186	rs9296015	21505073	Terao C	2011-04-19	Hum Mol Genet	The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.	Rheumatoid arthritis	1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls	4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls	6p21.32	HLA locus	rs9296015-?	NR	2E-38				Illumina [241523]	N
611	chr6_dbb_hap3	3502485	3502486	rs3130320	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	NOTCH4, C6orf10	rs3130320-T	0.39	3E-6	(case-only)	1.39	[1.21-1.60]	Illumina [421318] (imputed)	N
611	chr6_dbb_hap3	3523854	3523855	rs3130340	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	6p21.32	MHC, C6orf10	rs3130340-T	0.79	1E-7		0.1	[0.06-0.13] s.d. decrease	Illumina [301019]	N
611	chr6_dbb_hap3	3536811	3536812	rs926070	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	6p21.32	HLA	rs926070-A		4E-8	0.66	1.27	[NR]	Illumina [450000] (imputed)	N
612	chr6_dbb_hap3	3540498	3540499	rs7775397	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs7775397-G	0.1139	5E-71		3.83	[NR]	Illumina [242824]	N
612	chr6_dbb_hap3	3562123	3562124	rs6910071	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6p21.32	HLA-DRB1	rs6910071-G	0.22	1E-299		2.88	[2.73-3.03]	Affymetrix, Illumina [~ 2716259] (imputed)	N
612	chr6_dbb_hap3	3585250	3585251	rs3129900	20639878	Singer JB	2010-07-18	Nat Genet	A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.	Lumiracoxib-related liver injury	31 European ancestry cases, 3 Hispanic cases, 1 case, 176 European, Hispanic and other ancestry controls	79 European ancestry cases, 16 Hispanic ancestry cases, 1 case, 405 European, Hispanic and other ancestry controls	6p21.32	HLA-DRB1	rs3129900-?	0.105	7E-25		7.5	[5.0-11.3]	Affymetrix [682386]	N
612	chr6_dbb_hap3	3588180	3588181	rs9469099	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	C6orf10	rs9469099-G	0.909	5E-19		1.61	[1.44-1.80]	Illumina [606164]	N
612	chr6_dbb_hap3	3594653	3594654	rs910049	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	C6orf10	rs910049-A	0.142	9E-11		1.46	[1.28-1.62]	Illumina [431618]	N
612	chr6_dbb_hap3	3598557	3598558	rs9268301	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	C6orf10	rs9268301-A	0.438	2E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
612	chr6_dbb_hap3	3600470	3600471	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
612	chr6_dbb_hap3	3600470	3600471	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
612	chr6_dbb_hap3	3600470	3600471	rs2395148	18576341	Behrens EM	2008-06-24	Arthritis Rheum	Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.	Arthritis (juvenile idiopathic)	67 European ancestry cases, 1,952 European ancestry controls, 63 cases	NA	6p21.32	HLA-DRB1	rs2395148-?	NR	2E-10		5.37	[3.02-9.56]	Illumina [524684]	N
612	chr6_dbb_hap3	3604288	3604289	rs13196329	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.32	C6orf10	rs13196329-C	0.02	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
612	chr6_dbb_hap3	3615125	3615126	rs3129934	22457343	Martinelli-Boneschi F	2012-03-28	Mult Scler	A genome-wide association study in progressive multiple sclerosis.	Multiple sclerosis	197 European ancestry cases, 234 European ancestry controls	379 European ancestry cases, 398 European ancestry controls	6p21.32	C6orf10	rs3129934-T	0.10	7E-16		2.34	[1.90-2.87]	Affymetrix [277866]	N
612	chr6_dbb_hap3	3615125	3615126	rs3129934	18941528	Comabella M	2008-10-22	PLoS One	Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.	Multiple sclerosis	242 European ancestry cases, 242 European ancestry controls	553 European ancestry cases, 1,033 European ancestry controls	6p21.32	HLA-DRB1	rs3129934-T	NR	9E-11		3.3	[2.3-4.9]	Affymetrix [428867]	N
612	chr6_dbb_hap3	3615704	3615705	rs3129939	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs3129939-G	0.1772	2E-40		2.6	[NR]	Illumina [242824]	N
612	chr6_dbb_hap3	3616570	3616571	rs2273017	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.32	MHC	rs2273017-A	0.51	2E-22		1.53	[1.40-1.66]	Perlegen [268068]	N
612	chr6_dbb_hap3	3617617	3617618	rs3129943	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	C6orf10	rs3129943-T	0.62	3E-15		1.17	[1.12-1.21]	Illumina [458847]	N
612	chr6_dbb_hap3	3617997	3617998	rs2050190	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	6p21.32	C6orf10	rs2050190-A	NR	7E-7		0.2528	[0.17-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_dbb_hap3	3620274	3620275	rs9268402	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6p21.32	BTNL2, C6orf10	rs9268402-G	0.59	3E-15		1.16	[1.12-1.20]	Affymetrix [~ 2200000] (imputed)	N
612	chr6_dbb_hap3	3624198	3624199	rs7758128	21326295	Jin Y	2011-02-17	J Invest Dermatol	Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.	Vitiligo	1,339 European ancestry cases	677 European ancestry cases	6p21.32	BTNL2, C6orf10	rs7758128-A	0.06	8E-11				Illumina [520460]	N
612	chr6_dbb_hap3	3637168	3637169	rs3117099	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.32	other genes, MHC	rs3117099-?	NR	3E-6		1.25	[NR]	Affymetrix [745006]	N
612	chr6_dbb_hap3	3637411	3637412	rs3117098	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	BTNL2	rs3117098-G	0.25	5E-12		1.16	[1.11-1.21]	Illumina [458847]	N
612	chr6_dbb_hap3	3642113	3642114	rs1980493	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	BTNL2	rs1980493-G	NR	2E-20		2.5034		Illumina [514008]	N
612	chr6_dbb_hap3	3642113	3642114	rs1980493	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	BTNL2	rs1980493-G	0.1656	1E-48		2.87	[NR]	Illumina [242824]	N
612	chr6_dbb_hap3	3642113	3642114	rs1980493	19287509	Cui J	2009-03-14	Mol Med	Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.	Anti-cyclic Citrullinated Peptide Antibody	531 European ancestry cases	849 European ancestry cases	6p21.32	HLA-DRA, BTNL2	rs1980493-?	0.13	5E-7				Affymetrix [97248]	N
612	chr6_dbb_hap3	3642714	3642715	rs2076530	22936702	Hofmann S	2012-08-30	Eur Respir J	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.	Sarcoidosis	637 European ancestry cases, 1,233 European ancestry controls	3,121 European ancestry cases, 4,284 European ancestry controls	6p21.32	BTNL2	rs2076530-?	NR	3E-11	(Chronic)			Affymetrix [677619]	N
612	chr6_dbb_hap3	3642742	3642743	rs9268480	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	BTNL2	rs9268480-G	0.91	3E-6		1.82	[1.43-2.33]	Illumina [513923]	N
612	chr6_dbb_hap3	3642853	3642854	rs2076529	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p21.32	BTNL2	rs2076529-C	0.43	4E-7		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
612	chr6_dbb_hap3	3646985	3646986	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	BTNL2	rs3817963-?	NR	8E-6	(OCB positive vs. controls)	1.52	[1.27-1.79]	Illumina [495970]	N
612	chr6_dbb_hap3	3646985	3646986	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	BTNL2	rs3817963-?	NR	6E-10		1.61	[1.38-1.87]	Illumina [495970]	N
612	chr6_dbb_hap3	3646985	3646986	rs3817963	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-A	0.315	1E-8		1.3	[1.18-1.42]	Illumina [431618]	N
612	chr6_dbb_hap3	3646985	3646986	rs3817963	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-G	0.318	3E-10		1.18	[1.12-1.24]	Illumina [538166]	N
612	chr6_dbb_hap3	3649471	3649472	rs9461741	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.32	BTNL2	rs9461741-C	0.018	4E-15		2.66	[2.08-3.39]	Illumina [611856]	N
612	chr6_dbb_hap3	3652116	3652117	rs10947261	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs10947261-T	0.294	3E-12		1.36	[1.25-1.49]	Illumina [5664371] (imputed)	N
612	chr6_dbb_hap3	3652196	3652197	rs10947262	20305777	Nakajima M	2010-03-18	PLoS One	New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.	Knee osteoarthritis	899 Japanese ancestry cases, 3,396 Japanese ancestry controls	167 Japanese ancestry cases, 347 Japanese ancestry controls, 813 European ancestry  cases, 1,071 European ancestry controls,	6p21.32	HLA-DQA2, HLA-DQB1, BTNL2	rs10947262-T	0.42	5E-9		1.31	[1.20-1.44]	Illumina [459393]	N
612	chr6_dbb_hap3	3652583	3652584	rs3806156	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p21.32	HLA-DRA, BTNL2, HLA-DQA1	rs3806156-T	0.37	7E-19		1.42	[1.32-1.54]	Illumina [520460]	N
612	chr6_dbb_hap3	3654858	3654859	rs3763309	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	6p21.32	HLA-DRB1	rs3763309-?		2E-124		2.3	[2.14-2.46]	Affymetrix, Illumina [1831729] (imputed)	N
612	chr6_dbb_hap3	3655233	3655234	rs3763312	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.32	BTNL2, HLA-DRA	rs3763312-A	0.15	6E-6	(Han)	0.4002	unit decrease	Illumina [up to 528294]	N
612	chr6_dbb_hap3	3655356	3655357	rs3763313	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.32	NOTCH4, BTNL2	rs3763313-?	NR	2E-6	(progression)			Illumina [NR]	N
612	chr6_dbb_hap3	3655673	3655674	rs3763317	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRB	rs3763317-C	0.37	9E-66	(Serum level of C4)	0.12	[0.10-0.14] g/L increase	Illumina [1940245] (imputed)	N
612	chr6_dbb_hap3	3657585	3657586	rs9268516	23028483	Ramasamy A	2012-09-28	PLoS One	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Asthma	1,716 European ancestry cases, 16,888 European ancestry controls	4,035 European ancestry cases, 11,251 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268516-T	0.24	1E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 2200000] (imputed)	N
612	chr6_dbb_hap3	3657832	3657833	rs9405098	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs9405098-A	0.253	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
612	chr6_dbb_hap3	3659831	3659832	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.517	2E-11		0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_dbb_hap3	3659831	3659832	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5158	5E-8	(women)	0.0241	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_dbb_hap3	3659831	3659832	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5154	4E-6	(men)	0.0223	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_dbb_hap3	3659831	3659832	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.511	4E-11	(EA)	0.0226	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_dbb_hap3	3659831	3659832	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5107	2E-7	(EA, women)	0.0237	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_dbb_hap3	3659831	3659832	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5106	5E-6	(EA, men)	0.0226	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_dbb_hap3	3661158	3661159	rs4959027	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.32	TAP2, HLA-DRA	rs4959027-G	0.82	9E-7	(Pubertal growth)	0.09	[0.057-0.123] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_dbb_hap3	3661216	3661217	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
612	chr6_dbb_hap3	3661216	3661217	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
612	chr6_dbb_hap3	3662829	3662830	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
612	chr6_dbb_hap3	3662829	3662830	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
612	chr6_dbb_hap3	3665917	3665918	rs2395163	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	6p21.32	LOC642072	rs2395163-?	NR	3E-11		1.24	[NR]	Illumina [2500000] (imputed)	N
612	chr6_dbb_hap3	3667251	3667252	rs116869525	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA-DRB1*08:03	rs116869525-T	0.083	1E-8	(trend)	4.16	[2.50-6.90] (allelic)	Affymetrix [522980]	N
612	chr6_dbb_hap3	3667756	3667757	rs3135363	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DR	rs3135363-?	NR	8E-7		1.51	[1.28-1.78]	Illumina [588026]	N
612	chr6_dbb_hap3	3667756	3667757	rs3135363	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3135363-C	0.702	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
612	chr6_dbb_hap3	3667756	3667757	rs3135363	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DR	rs3135363-?	NR	7E-22		1.53	[1.35-1.74]	Illumina [455508]	N
612	chr6_dbb_hap3	3667756	3667757	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
612	chr6_dbb_hap3	3667756	3667757	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
613	chr6_dbb_hap3	3671106	3671107	rs3135350	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	6p21.32	NOTCH4, HLA-DRA, BTNL2	rs3135350-G	0.046	9E-8	(Gliadin)	0.51	[NR] unit increase	Illumina [944565] (imputed)	N
613	chr6_dbb_hap3	3679204	3679205	rs3129860	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3129860-A	0.231	1E-9		1.36	[1.22-1.49]	Illumina [431618]	N
613	chr6_dbb_hap3	3679342	3679343	rs3135338	20159113	Jakkula E	2010-02-12	Am J Hum Genet	Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.	Multiple sclerosis	68 Finland founder cases, 136 Finland founder controls	83 Finland founder cases, 365 Finland founder controls 3,285 European ancestry cases, 6,379 European ancestry controls, 1,202 cases, 3,399 controls	6p21.32	HLA	rs3135338-A	0.13	2E-25		3.43	[NR]	Illumina [297343]	N
613	chr6_dbb_hap3	3684456	3684457	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRA	rs3129871-?	NR	1E-16	(OCB positive vs. controls)	1.98	[1.68-2.32]	Illumina [495970]	N
613	chr6_dbb_hap3	3684456	3684457	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	HLA-DRA	rs3129871-?	NR	6E-15		1.72	[1.59-1.86]	Illumina [495970]	N
613	chr6_dbb_hap3	3686637	3686638	rs9268645	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	6p21.32	MHC	rs9268645-?	NR	1E-100				Affymetrix, Illumina [841622] (imputed)	N
613	chr6_dbb_hap3	3687640	3687641	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	5E-10	(Sporadic)	1.38	[1.24-1.52]	Illumina [811597]	N
613	chr6_dbb_hap3	3687640	3687641	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	3E-8		1.31	[1.19-1.43]	Illumina [811597]	N
613	chr6_dbb_hap3	3687640	3687641	rs3129882	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRA	rs3129882-?	0.44	2E-27	(ATA positive)	2.17	[1.88-2.50]	Illumina [NR] (imputed)	N
613	chr6_dbb_hap3	3687640	3687641	rs3129882	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	6p21.32	HLA-DRA	rs3129882-G	0.40	2E-10		1.26	[1.17-1.35]	Illumina [811597]	N
613	chr6_dbb_hap3	3689756	3689757	rs7192	22541561	Zhao H	2012-04-26	Am J Hum Genet	A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.	Non-obstructive azoospermia	802 Han Chinese ancestry cases, 1,863 Han Chinese ancestry controls	1,424 Han Chinese ancestry cases, 2,713 Han Chinese ancestry controls	6p21.32	HLA-DRA	rs7192-T	0.26	3E-6		1.29	[NR]	Affymetrix, Illumina [912924]	N
613	chr6_dbb_hap3	3690553	3690554	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	3E-17		0.045	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_dbb_hap3	3690553	3690554	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	1E-21		0.048	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_dbb_hap3	3690553	3690554	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	2E-15		1.83	[1.36-2.3] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_dbb_hap3	3690553	3690554	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	4E-19		2.31	[1.78-2.84] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_dbb_hap3	3691169	3691170	rs3135388	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
613	chr6_dbb_hap3	3691169	3691170	rs3135388	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p21.32	HLA-DRB1	rs3135388-A	0.22	4E-225		2.75	[2.46-3.07]	Affymetrix, Illumina [~ 2560000] (imputed)	N
613	chr6_dbb_hap3	3691169	3691170	rs3135388	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	6p21.32	HLA-DRA	rs3135388-A	0.23	9E-81		1.99	[1.84-2.15]	Affymetrix [334923]	N
613	chr6_dbb_hap3	3691577	3691578	rs2227139	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p21.32	intergenic	rs2227139-G	NR	1E-7	(WBC)	0.02	[0.01-0.03] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
613	chr6_dbb_hap3	3691663	3691664	rs3129889	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3129889-G	0.20	1E-206		2.97	[NR]	Affymetrix, Illumina [2529394]	N
613	chr6_dbb_hap3	3692391	3692392	rs3129890	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DRA	rs3129890-T	0.61	5E-13		1.15	[1.11-1.20]	Illumina [458847]	N
613	chr6_dbb_hap3	3703000	3703001	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.72	1E-10	(East Asian)	1.3	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_dbb_hap3	3703000	3703001	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	2E-38		1.41	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_dbb_hap3	3703000	3703001	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	1E-30	(EA)	1.49	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_dbb_hap3	3706381	3706382	rs6903608	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	6p21.32	HLA class II, HLA class I	rs6903608-C	0.30	7E-31		1.64	[1.51-1.78]	Affymetrix, Illumina [1004829] (imputed)	N
613	chr6_dbb_hap3	3706381	3706382	rs6903608	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	6p21.32	NR	rs6903608-G	0.27	5E-27		1.62	[NR]	Illumina [296129]	N
613	chr6_dbb_hap3	3706381	3706382	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_dbb_hap3	3706381	3706382	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_dbb_hap3	3706381	3706382	rs6903608	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	6p21.32	HLA-DRA	rs6903608-G	0.27	3E-50		1.7	[1.58-1.82]	Illumina [504374]	N
613	chr6_dbb_hap3	3706868	3706869	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250	(EA)	2.47	[2.39-2.55]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_dbb_hap3	3706868	3706869	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250		2.28	[2.22-2.34]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_dbb_hap3	3706868	3706869	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.44	2E-145	(East Asian)	1.9	[1.81-1.99]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_dbb_hap3	3707739	3707740	rs9268853	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	MHC	rs9268853-T	0.64	3E-6		1.37	[1.20-1.56]	Illumina [581060]	N
613	chr6_dbb_hap3	3707739	3707740	rs9268853	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	BTLN2, HLA-DRA, HLA-DRB5, HLA-DRB1	rs9268853-C	NR	2E-10	(FL)	1.56	[NR]	Affymetrix [530583]	N
613	chr6_dbb_hap3	3707739	3707740	rs9268853	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9268853-T	0.66	1E-55		1.4	[1.34-1.47]	Affymetrix, Illumina [~ 1100000] (imputed)	N
613	chr6_dbb_hap3	3707815	3707816	rs9268856	24943344	Ferrari R	2014-07-01	Lancet Neurol	Frontotemporal dementia and its subtypes: a genome-wide association study.	Frontotemporal dementia	1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls	690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2	rs9268856-C	0.748	6E-9	(All Frontotemporal dementia)	1.24	[1.16-1.32]	Illumina [6026385] (imputed)	N
613	chr6_dbb_hap3	3709240	3709241	rs9268877	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	6p21.32	MHC	rs9268877-?	NR	4E-23				Affymetrix [NR]	N
613	chr6_dbb_hap3	3709240	3709241	rs9268877	18836448	Franke A	2008-10-05	Nat Genet	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.	Ulcerative colitis	1,167 European ancestry cases, 777 European ancestry controls	1,855 European ancestry cases, 3,091 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268877-T	0.45	6E-18		1.45	[1.33-1.58]	Affymetrix [355262]	N
613	chr6_dbb_hap3	3710173	3710174	rs9268905	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	6p21.32	HLA-DRA	rs9268905-C	0.32	1E-7				Illumina [~ 2609000] (imputed)	N
613	chr6_dbb_hap3	3710931	3710932	rs9268923	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	6p21.32	HLA-DRA	rs9268923-C	0.67	4E-15		1.45	[1.33-1.59]	Affymetrix [1897764] (imputed)	N
613	chr6_dbb_hap3	3711264	3711265	rs2395185	25186300	Terao C	2014-09-03	Arthritis Rheumatol	An association between anti-nuclear antibody and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study.	Antinuclear antibody levels	3,185 Japanese ancestry individuals	3,963 Japanese ancestry individuals	6p21.32	HLA-DRA, HLA-DRB5	rs2395185-?	NR	1E-11		0.25	unit increase	Illumina [303506]	N
613	chr6_dbb_hap3	3711264	3711265	rs2395185	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	6p21.32	HLA class II	rs2395185-T	0.35	1E-8		1.17	[1.11-1.23]	Illumina [596032]	N
613	chr6_dbb_hap3	3711264	3711265	rs2395185	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.32	HLA-DRA	rs2395185-?	NR	4E-31	(Total cHL)	1.82	[1.67-2.00]	Illumina [502514]	N
613	chr6_dbb_hap3	3711264	3711265	rs2395185	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	6p21.32	C6orf10, BTNL2, HLA	rs2395185-G	NR	9E-23		1.49	[NR]	Illumina [266047]	N
613	chr6_dbb_hap3	3711264	3711265	rs2395185	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	intergenic	rs2395185-G	0.61	5E-22		1.92	[1.68-2.19]	Illumina [513923]	N
613	chr6_dbb_hap3	3711264	3711265	rs2395185	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, BTNL2, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs2395185-?	0.67	1E-16		1.52		Illumina [280748]	N
613	chr6_dbb_hap3	3722272	3722273	rs12194148	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs12194148-?	NR	5E-58	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
613	chr6_dbb_hap3	3722624	3722625	rs12195582	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	6p21.32	HLA	rs12195582-T	0.465	5E-100		1.78	[1.69-1.88]	Illumina [up to 21554489]	N
613	chr6_dbb_hap3	3724791	3724792	rs7453498	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	6p21.32	intergenic	rs7453498-C	0.8656	3E-6	(Complete)	0.8142	[0.47-1.16] unit increase	Affymetrix, Illumina [NR] (imputed)	N
614	chr6_dbb_hap3	3846166	3846167	rs477515	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DRA, BTNL2, HLA-DRB1, C6orf10	rs477515-T	0.442	3E-19		2.05	[1.75-2.41]	Illumina [588026]	N
614	chr6_dbb_hap3	3846166	3846167	rs477515	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	HLA-DRB1	rs477515-T	0.32	3E-13	(Quantitative)	0.28	[NR] unit decrease	Illumina [944565]	N
614	chr6_dbb_hap3	3846166	3846167	rs477515	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	6p21.32	HLA-DQA1	rs477515-?	0.69	1E-8		1.38	[1.23-1.54]	Illumina [NR]	N
614	chr6_dbb_hap3	3848423	3848424	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
614	chr6_dbb_hap3	3848423	3848424	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
614	chr6_dbb_hap3	3849635	3849636	rs9270965	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9270965-?	NR	5E-12		1.72	[NR]	Affymetrix [603382]	N
614	chr6_dbb_hap3	3849793	3849794	rs602875	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs602875-A	0.68	5E-27		1.61	[1.39-1.61]	Illumina [491883]	N
614	chr6_dbb_hap3	3850160	3850161	rs9270984	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6p21.32	HLA-DRB1	rs9270984-T	0.18	5E-24		1.73		Illumina [2100739] (imputed)	N
614	chr6_dbb_hap3	3850229	3850230	rs9270986	25643325	Renton AE	2015-04-01	JAMA Neurol	A Genome-wide Association Study of Myasthenia Gravis.	Myasthenia gravis	972 European ancestry cases, 1,977 European ancestry controls	423 European ancestry cases, 467 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9270986-A	0.15	6E-8		1.43	[NR]	Illumina [8114394] (imputed)	N
614	chr6_dbb_hap3	3850340	3850341	rs615672	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	HLA-DRB1	rs615672-?	NR	8E-27				Affymetrix [469557]	N
614	chr6_dbb_hap3	3851839	3851840	rs3021304	25108386	Hou S	2014-08-10	Nat Genet	Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.	Vogt-Koyanagi-Harada syndrome	774 Han Chinese ancestry cases, 2,009 Han Chinese ancestry controls	764 Han Chinese ancestry cases, 3594 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3021304-G	0.346	1E-118		2.97	[2.71-3.26]	Affymetrix, Illumina [2208258] (imputed)	N
614	chr6_dbb_hap3	3851916	3851917	rs9461776	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	HLA-DQA1, HLA-DRB1	rs9461776-G	0.29	7E-9		2.02	[NR]	Illumina [899641]	N
614	chr6_dbb_hap3	3852657	3852658	rs9271100	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs9271100-T	0.217	8E-95		1.68	[NR]	Illumina [4577171] (imputed)	N
614	chr6_dbb_hap3	3852657	3852658	rs9271100	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs9271100-?	NR	1E-12		1.9	[1.59-2.27]	Illumina [493955]	N
614	chr6_dbb_hap3	3852974	3852975	rs9271117	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9271117-?	NR	6E-14		1.75	[NR]	Affymetrix [603382]	N
614	chr6_dbb_hap3	3853557	3853558	rs660895	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p21.32	NR	rs660895-G	0.259	1E-10		1.289	[1.184-1.402]	Illumina [3792949] (imputed)	N
614	chr6_dbb_hap3	3853557	3853558	rs660895	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs660895-G	0.24	4E-20		1.34	[1.26-1.42]	Illumina [444882]	N
614	chr6_dbb_hap3	3853557	3853558	rs660895	17804836	Plenge RM	2007-09-05	N Engl J Med	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.	Rheumatoid arthritis	1,522 European ancestry cases, 1,850 European ancestry controls	1,053 European ancestry cases, 1,858 European ancestry controls	6p21.32	HLA-DRB1	rs660895-?	0.21	1E-108		3.62	[NR]	Illumina [297086]	N
614	chr6_dbb_hap3	3854258	3854259	rs674313	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DRB5	rs674313-T	0.26	7E-9		1.69	[1.41-2.01]	Affymetrix [827777]	N
614	chr6_dbb_hap3	3854706	3854707	rs9271192	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	6p21.32	HLA-DRB5, HLA-DRB1	rs9271192-C	0.276	3E-12		1.11	[1.08-1.18]	Illumina [7055881] (imputed)	N
614	chr6_dbb_hap3	3855211	3855212	rs9271209	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.32	NR	rs9271209-?	NR	2E-85	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
614	chr6_dbb_hap3	3858060	3858061	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-6	(LYM)	1.29	[1.16-1.43]	Affymetrix [530583]	N
614	chr6_dbb_hap3	3858060	3858061	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-12	(FL)	1.93	[NR]	Affymetrix [530583]	N
614	chr6_dbb_hap3	3858060	3858061	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	2E-8	(NHL)	1.37	[1.23-1.54]	Affymetrix [530583]	N
614	chr6_dbb_hap3	3858060	3858061	rs4530903	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs4530903-?	NR	5E-6	(Negative/disorganized symptoms)	0.0919	[NR] unit increase	Affymetrix [696491]	N
614	chr6_dbb_hap3	3859912	3859913	rs9271348	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271348-?		5E-7		1.2821	[NR]	Illumina [452367]	N
614	chr6_dbb_hap3	3862676	3862677	rs9271366	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9271366-A	0.888	5E-12		1.66	[1.44-1.92]	Illumina [5664371] (imputed)	N
614	chr6_dbb_hap3	3862676	3862677	rs9271366	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271366-G	0.11	1E-18		2.1	[1.78-2.48]	Illumina [581060]	N
614	chr6_dbb_hap3	3862676	3862677	rs9271366	21699788	Okada Y	2011-06-20	Gastroenterology	HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.	Ulcerative colitis or Crohn's disease	372 Japanese ancestry Crohn's disease cases, 372 Japanese ancestry ulcerative colitis cases	607 Japanese ancestry Crohn's disease cases, 376 Japanese ancestry ulcerative colitis cases	6p21.32	MHC, HLA-DRB1	rs9271366-C	0.21	2E-70	(UC vs. CD)	4.44	[3.74-5.27]	Illumina [461368]	N
614	chr6_dbb_hap3	3862676	3862677	rs9271366	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-?	0.85	3E-33		7.69	[5.26-11.11]	Illumina [2057134] (imputed)	N
614	chr6_dbb_hap3	3862676	3862677	rs9271366	20598377	Nischwitz S	2010-06-30	J Neuroimmunol	Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.	Multiple sclerosis	590 European ancestry cases, 825 European ancestry controls	NA	6p21.32	DQA1	rs9271366-G	NR	4E-17		2.62	[2.09-3.28]	Illumina [~ 300000]	N
614	chr6_dbb_hap3	3862676	3862677	rs9271366	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-G	0.15	7E-184		2.78	[NR]	Illumina [302098]	N
614	chr6_dbb_hap3	3865085	3865086	rs35597309	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	6p21.32	HLA	rs35597309-A	0.072	1E-7		1.19	[1.12-1.27]	Affymetrix, Illumina [7556215] (imputed)	N
614	chr6_dbb_hap3	3872791	3872792	rs3129763	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3129763-?	0.25	1E-11	(ATA positive)	1.65	[1.42-1.91]	Illumina [NR] (imputed)	N
614	chr6_dbb_hap3	3872819	3872820	rs9271588	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1, c6orf10, BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB6	rs9271588-T	0.532	9E-37		1.75	[1.59-1.89]	Affymetrix [556134]	N
614	chr6_dbb_hap3	3874050	3874051	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DRB1	rs9271640-A	NR	5E-12		1.56	[1.38-1.77]	NR [485522]	N
614	chr6_dbb_hap3	3874050	3874051	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
614	chr6_dbb_hap3	3874050	3874051	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
614	chr6_dbb_hap3	3874050	3874051	rs9271640	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA1	rs9271640-?	NR	2E-20	(OCB positive vs. controls)	2.37	[1.97-2.84]	Illumina [495970]	N
614	chr6_dbb_hap3	3874460	3874461	rs28421666	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.32	HLA-DQ, HLA-DR	rs28421666-?	0.88	2E-18		1.49	[1.37-1.64]	Illumina [464328]	N
614	chr6_dbb_hap3	3876952	3876953	rs9271858	23291585	Fakiola M	2013-01-06	Nat Genet	Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.	Leishmaniasis (visceral)	989 Indian ancestry cases, 1,089 Indian ancestry controls, 357 Brazilian ancestry cases, 1,613 Brazilian ancestry unaffected relatives	951 Indian ancestry cases, 990 Indian ancestry controls	6p21.32	HLA, HLA-DRB1, HLA-DQA1	rs9271858-G	0.39	3E-17		1.41	[1.30-1.52]	Illumina [521134]	N
614	chr6_dbb_hap3	3881720	3881721	rs9272105	22807686	Li S	2012-07-12	PLoS Genet	GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.	Hepatocellular carcinoma	1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers	4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.45	5E-22		1.28	[1.22-1.35]	NR [523663]	N
614	chr6_dbb_hap3	3881720	3881721	rs9272105	21502966	Weber F	2011-04-19	Pharmacogenomics J	Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-&#x003b2; therapy in multiple sclerosis patients.	Response to interferon beta therapy	178 European ancestry antibody-positive individuals, 184 European ancestry antibody-negative individuals	350 European ancestry antibody-positive individuals, 468 European ancestry antibody-negative individuals	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.44	4E-10		0.26	[NR] unit increase	Illumina [~ 317000]	N
614	chr6_dbb_hap3	3882524	3882525	rs9272143	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9272143-?	NR	3E-22		1.49	[1.37-1.61]	Illumina [632668]	N
614	chr6_dbb_hap3	3883991	3883992	rs9272219	19571809	Shi J	2009-07-01	Nature	Common variants on chromosome 6p22.1 are associated with schizophrenia.	Schizophrenia	2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls	5,327 European ancestry cases, 16,424 European ancestry controls	6p21.32	HLA-DQA1	rs9272219-G	0.72	7E-8	(EA)	1.14	[NR]	Affymetrix [up to 843798]	N
614	chr6_dbb_hap3	3884729	3884730	rs2040406	20453840	Sanna S	2010-05-09	Nat Genet	Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.	Multiple sclerosis	882 Sardinian cases, 872 Sardinian controls	1,775 Sardinian cases, 2,005 Sardinian controls	6p21.32	HLA-DQB1, HLA-DRB	rs2040406-G	0.26	1E-20		2.05	[NR]	Affymetrix [6607266] (imputed)	N
614	chr6_dbb_hap3	3886094	3886095	rs9272346	23181788	Lasky-Su J	2012-12-04	Clin Exp Allergy	HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.	Asthma	Up to 1,238 European ancestry cases, up to 2,617 European ancestry controls	Up to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents	6p21.32	HLA-DQA1	rs9272346-?	NR	2E-8	(Adult)			Affymetrix [455089]	N
614	chr6_dbb_hap3	3886094	3886095	rs9272346	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	6p21.32	HLA	rs9272346-G	NR	6E-129				Affymetrix [up to 335565]	N
614	chr6_dbb_hap3	3886094	3886095	rs9272346	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	6p21.32	MHC	rs9272346-G	0.61	5E-134		5.49	[4.83-6.24]	Affymetrix [469557]	N
614	chr6_dbb_hap3	3887610	3887611	rs2187668	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	NR	1E-9				Affymetrix [up to 700598]	N
614	chr6_dbb_hap3	3887610	3887611	rs2187668	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-T	0.107	4E-10		2.93	[2.18-3.95]	Affymetrix [906600]	N
614	chr6_dbb_hap3	3887610	3887611	rs2187668	24768677	de Boer YS	2014-04-23	Gastroenterology	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	Autoimmune hepatitis type-1	649 European ancestry cases, 13,436 European ancestry controls	451 European ancestry cases, 4,103 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	0.15	2E-78		2.9	[2.60-3.40]	Illumina [254006]	N
614	chr6_dbb_hap3	3887610	3887611	rs2187668	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DR3	rs2187668-A	0.12	6E-28	(anti-dsDNA +)	2.23	[1.94-2.57]	Illumina [421318] (imputed)	N
614	chr6_dbb_hap3	3887610	3887611	rs2187668	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	HLA-DQA1	rs2187668-A	0.1297	8E-93		4.32	[NR]	Illumina [242824]	N
614	chr6_dbb_hap3	3887610	3887611	rs2187668	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs2187668-A	0.13	2E-33		2.53	[2.17-2.95]	Illumina [2057134] (imputed)	N
614	chr6_dbb_hap3	3887610	3887611	rs2187668	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs2187668-A	0.26	1E-50		6.23	[5.95-6.52]	Illumina [292387]	N
614	chr6_dbb_hap3	3887610	3887611	rs2187668	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.11	3E-21				Illumina [502033]	N
614	chr6_dbb_hap3	3887610	3887611	rs2187668	17558408	van Heel DA	2007-06-10	Nat Genet	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.	Celiac disease	778 European ancestry cases, 1,422 European ancestry controls	991 European ancestry cases, 1,489 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.14	1E-19		7.04	[6.08-8.15]	Illumina [310605]	N
614	chr6_dbb_hap3	3888457	3888458	rs9272535	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DQA1	rs9272535-A	0.27	9E-8		1.61	[1.35-1.92]	Affymetrix [827777]	N
614	chr6_dbb_hap3	3894053	3894054	rs6927022	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DQA1	rs6927022-A	0.535	5E-133		1.444	[1.387-1.503]	Affymetrix, Illumina [1230000] (imputed)	N
614	chr6_dbb_hap3	3904489	3904490	rs9273349	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	6p21.32	HLA-DQ	rs9273349-C	0.58	7E-14		1.18	[1.13-1.24]	Illumina [582892]	N
614	chr6_dbb_hap3	3904750	3904751	rs7744020	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs7744020-A	0.272	8E-9		1.9	year decrease	Affymetrix [603382]	N
614	chr6_dbb_hap3	3904892	3904893	rs9273363	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	6p21.32	HLA	rs9273363-A	0.27	2E-10		1.24	[NR]	Illumina [549934]	N
614	chr6_dbb_hap3	3904931	3904932	rs6906021	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.45	2E-12		1.15	[1.11-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
614	chr6_dbb_hap3	3904931	3904932	rs6906021	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.4749	7E-15		0.0945	[0.071-0.118] unit increase	Illumina [2400000] (imputed)	N
614	chr6_dbb_hap3	3905219	3905220	rs9273373	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	6p21.32	HLA-DQB1	rs9273373-G	0.54	4E-14		1.24	[1.17-1.30]	Illumina [up to 4972397] (imputed)	N
614	chr6_dbb_hap3	3906350	3906351	rs1063355	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DQA1	rs1063355-A	NR	2E-6		1.43	[1.23-1.66]	Illumina [480391]	N
614	chr6_dbb_hap3	3907065	3907066	rs2854275	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	PSORS1C1, BAT2, EHMT2, HLA-DQB1, C6orf15, BAT4, NOTCH4, PRRT1, HLA-B	rs2854275-T	0.064	2E-10	(Conditional on rs477515 - Quantitative)	0.45	[NR] unit decrease	Illumina [944565]	N
614	chr6_dbb_hap3	3926564	3926565	rs17212223	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs17212223-T	0.191	3E-8		1.95	year decrease	Affymetrix [603382]	N
614	chr6_dbb_hap3	3930257	3930258	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
614	chr6_dbb_hap3	3930257	3930258	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
615	chr6_dbb_hap3	3939193	3939194	rs3129716	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQB1	rs3129716-?	NR	4E-9				Affymetrix [up to 700598]	N
615	chr6_dbb_hap3	3939336	3939337	rs7774434	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	6p21.32	MHC	rs7774434-C	0.38	4E-34		1.6	[1.48-1.73]	Illumina [507467]	N
615	chr6_dbb_hap3	3939336	3939337	rs7774434	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	6p21.32	HLA-DQB1	rs7774434-C	0.371	3E-26		1.75	[NR]	Illumina [276459]	N
615	chr6_dbb_hap3	3939838	3939839	rs7775228	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	6p21.32	HLA region	rs7775228-C	0.13	2E-9		1.33	[1.21-1.45]	Affymetrix, Illumina [2217510] (imputed)	N
615	chr6_dbb_hap3	3939838	3939839	rs7775228	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQB1	rs7775228-A	0.63	5E-15		1.17	[1.12-1.21]	Illumina [458847]	N
615	chr6_dbb_hap3	3940069	3940070	rs9469220	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQB1	rs9469220-G	NR	2E-7		0.09	[0.05-0.12] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
615	chr6_dbb_hap3	3940069	3940070	rs9469220	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	6p21.32	NR	rs9469220-A	0.48	2E-6		1.14	[0.98-1.32]	Affymetrix [469557]	N
615	chr6_dbb_hap3	3941620	3941621	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.59	8E-14	(East Asian)	1.38		Illumina [> 1000000] (imputed)	N
615	chr6_dbb_hap3	3941620	3941621	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-30		1.36	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_dbb_hap3	3941620	3941621	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-18	(EA)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_dbb_hap3	3946073	3946074	rs3129720	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQB1	rs3129720-?	NR	5E-15	(OCB positive vs. controls)	1.91	[1.62-2.24]	Illumina [495970]	N
615	chr6_dbb_hap3	3946073	3946074	rs3129720	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQB1, HLA-DRB9, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs3129720-C	0.764	5E-7		1.16	(1.10-1.23)	Illumina [870065]	N
615	chr6_dbb_hap3	3946294	3946295	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
615	chr6_dbb_hap3	3946294	3946295	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1	rs6457617-A	NR	7E-17		0.127	[NR] unit decrease	NR [485236]	N
615	chr6_dbb_hap3	3946294	3946295	rs6457617	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DRB1, DQA1, DQB1	rs6457617-T	0.45	7E-33		1.4	[1.32-1.48]	Illumina [486049]	N
615	chr6_dbb_hap3	3946294	3946295	rs6457617	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.32	HLA, DQB1	rs6457617-T	0.50	2E-37		1.61	[1.49-1.72]	Illumina [489814]	N
615	chr6_dbb_hap3	3946294	3946295	rs6457617	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	6p21.32	HLA-DQB1	rs6457617-?	0.53	4E-17		1.37	[1.28-1.47]	Illumina [279621]	N
615	chr6_dbb_hap3	3946294	3946295	rs6457617	18668548	Julia A	2008-08-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.	Rheumatoid arthritis	400 European ancestry cases, 400 European ancestry controls	410 European ancestry cases, 394 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQA1	rs6457617-?	NR	1E-9				Illumina [299918]	N
615	chr6_dbb_hap3	3946294	3946295	rs6457617	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	MHC	rs6457617-T	0.49	5E-75		2.36	[1.97-2.84]	Affymetrix [469557]	N
615	chr6_dbb_hap3	3946442	3946443	rs6457620	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.32	HLA locus	rs6457620-C	0.51	2E-16		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
615	chr6_dbb_hap3	3946442	3946443	rs6457620	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	6p21.32	HLA-DRB1	rs6457620-?	0.50	4E-186		2.55	[2.40-2.71]	Affymetrix, Illumina [at least 315971] (imputed)	N
615	chr6_dbb_hap3	3946901	3946902	rs2647012	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	intergenic	rs2647012-?	NR	3E-7	(Additive)	1.52	[1.3-1.75]	Affymetrix, Illumina [1621689] (imputed)	N
615	chr6_dbb_hap3	3946901	3946902	rs2647012	21533074	Smedby KE	2011-04-21	PLoS Genet	GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma.	Follicular lymphoma	379 European ancestry cases, 791 European ancestry controls	1,049 European ancestry cases, 3,952 European ancestry controls	6p21.32	HLA-DQB1	rs2647012-G	0.56	2E-21		1.56	[1.43-1.72]	Illumina [298168]	N
615	chr6_dbb_hap3	3946901	3946902	rs2647012	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQA1	rs2647012-A	0.44	8E-6	(case-only)	1.38	[1.20-1.59]	Illumina [421318] (imputed)	N
615	chr6_dbb_hap3	3947403	3947404	rs9357152	21896673	Chen D	2011-09-10	Hum Mol Genet	Genome-wide association study of HPV seropositivity.	HPV seropositivity	1,286 European ancestry lung cancer cases, 679 European ancestry head and neck cancer cases, 811 European ancestry kidney cancer cases, 2,035 European ancestry controls	1,307 Hispanic head and neck cancer cases, 1,037 Hispanic controls	6p21.32	HLA-DQB1	rs9357152-G	0.33	1E-14				Illumina [316015]	N
615	chr6_dbb_hap3	3947403	3947404	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
615	chr6_dbb_hap3	3947403	3947404	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
615	chr6_dbb_hap3	3947863	3947864	rs10484561	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.32	HLA-DQB1	rs10484561-G	0.11	1E-29	(FL)	1.95	[1.72-2.22]	Illumina [312768]	N
615	chr6_dbb_hap3	3948739	3948740	rs9275319	23242368	Jiang DK	2012-12-16	Nat Genet	Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.	Hepatocellular carcinoma (hepatitis B virus related)	1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls	4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls	6p21.32	HLA-DQ	rs9275319-A	0.88	3E-17		1.49	[1.36-1.63]	Illumina [1672517] (imputed)	N
615	chr6_dbb_hap3	3949104	3949105	rs9275326	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	6p21.32	HLA-DQB	rs9275326-C	0.906	1E-12		1.21	[1.16-1.26]	Illumina [7893274] (imputed)	N
615	chr6_dbb_hap3	3950332	3950333	rs2647044	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.32	HLA-DQB1	rs2647044-G	NR	6E-6	(FEV1/FVC)	0.044	[0.024-0.064] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
615	chr6_dbb_hap3	3950332	3950333	rs2647044	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	6p21.32	HLA-DRB1	rs2647044-A	0.13	1E-16		8.3	[6.97-9.89]	Illumina [543071]	N
615	chr6_dbb_hap3	3950523	3950524	rs2647045	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647045-?	NR	4E-10	(FL)	1.69	[NR]	Affymetrix [530583]	N
615	chr6_dbb_hap3	3950759	3950760	rs2647046	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647046-?	NR	2E-6	(NHL)	1.25	[1.14-1.37]	Affymetrix [530583]	N
615	chr6_dbb_hap3	3951579	3951580	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.75	1E-7	(ATA positive)	1.61	[1.35-1.92]	Illumina [NR] (imputed)	N
615	chr6_dbb_hap3	3951579	3951580	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.25	3E-54	(ACA positive)	2.38	[2.13-2.67]	Illumina [NR] (imputed)	N
615	chr6_dbb_hap3	3951795	3951796	rs11752643	21971053	Takeuchi F	2011-10-05	Eur J Hum Genet	Genome-wide association study of coronary artery disease in the Japanese.	Coronary heart disease	806 Japanese ancestry cases, 1,337 Japanese ancestry controls	3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls	6p21.32	HLA, DRB-DQB	rs11752643-T	0.06	5E-7		1.26	[1.15-1.38]	Illumina [451382]	N
615	chr6_dbb_hap3	3952189	3952190	rs2647050	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	HLA-DQB1	rs2647050-T	NR	1E-6	(Perc15, All)	1.6	[0.66-2.54] unit increase	Illumina [7600000] (imputed)	N
615	chr6_dbb_hap3	3952377	3952378	rs9275406	23918589	Negi S	2013-12-01	Arthritis Rheum	A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians.	Rheumatoid arthritis	706 North Indian ancestry cases, 761 North Indian ancestry controls	927 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1, C6orf10, HLA-DQA1	rs9275406-T	0.17	3E-12		2.1	[1.72-2.68]	Illumina [559348]	N
615	chr6_dbb_hap3	3952669	3952670	rs2856718	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB1	rs2856718-C	0.55	7E-28		1.28	[1.22-1.33]	Illumina [3680900] (imputed)	N
615	chr6_dbb_hap3	3952669	3952670	rs2856718	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs2856718-?	NR	2E-24		1.6	[1.46-1.75]	Illumina [719265]	N
615	chr6_dbb_hap3	3952669	3952670	rs2856718	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DQB1	rs2856718-A	0.48	4E-37		1.56	[1.45-1.67]	Illumina [423627]	N
615	chr6_dbb_hap3	3952722	3952723	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.77	5E-10	(East Asian)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_dbb_hap3	3952722	3952723	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	5E-8	(EA)	1.21	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_dbb_hap3	3952722	3952723	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	1E-15		1.27	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_dbb_hap3	3953517	3953518	rs13192471	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	6p21.32	HLA-DRB1	rs13192471-G	0.22	2E-58		1.97	[1.82-2.14]	Illumina [393217]	N
615	chr6_dbb_hap3	3953662	3953663	rs1794275	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DQA/B	rs1794275-A	0.15	3E-13		1.3	[1.21-1.39]	Illumina [444882]	N
615	chr6_dbb_hap3	3957148	3957149	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945894807901907	8E-6	(IGP1)	0.3014	[0.17-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
615	chr6_dbb_hap3	3957148	3957149	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945736455079007	1E-6	(IGP19)	0.3272	[0.2-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
615	chr6_dbb_hap3	3957148	3957149	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945425811930783	3E-7	(IGP41)	0.3448	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
615	chr6_dbb_hap3	3957519	3957520	rs9275524	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	intergenic	rs9275524-T		2E-7	(Modelling analysis)	1.07	[1.04-1.09]	NR [1252901] (imputed)	N
615	chr6_dbb_hap3	3957880	3957881	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	7E-14	(ACPA+ cases vs. all controls)	3.015	[NR]	Affymetrix [3441843] (imputed)	N
615	chr6_dbb_hap3	3957880	3957881	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	3E-12	(all cases vs. all controls)	2.608	[NR]	Affymetrix [3441843] (imputed)	N
615	chr6_dbb_hap3	3957880	3957881	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	2E-13	(ACPA- cases vs. all controls)	2.869	[NR]	Affymetrix [3441843] (imputed)	N
615	chr6_dbb_hap3	3959801	3959802	rs9275563	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275563-?	NR	6E-11	(OCB positive vs. controls)	1.75	[1.47-2.04]	Illumina [495970]	N
615	chr6_dbb_hap3	3960493	3960494	rs4273729	23420232	Duggal P	2013-02-19	Ann Intern Med	Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.	Chronic hepatitis C infection	1,482 chronic HCV cases, 919 spontaneously cleared HCV cases	461 chronic HCV cases, 284 spontaneously cleared HCV cases	6p21.32	HLA	rs4273729	NR	5E-17		1.59		Illumina [792721] (imputed)	N
615	chr6_dbb_hap3	3960903	3960904	rs9275572	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-A	0.4	5E-16		1.74	[1.64-1.85]	Illumina [NR]	N
615	chr6_dbb_hap3	3960903	3960904	rs9275572	24376798	Miki D	2013-12-20	PLoS One	HLA-DQB1*03 confers susceptibility to chronic hepatitis C in Japanese: a genome-wide association study.	Chronic hepatitis C infection	481 Japanese ancestry cases, 2,963 Japanese ancestry controls	5,737 Japanese ancestry cases, 26,931 Japanese ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs9275572-T	0.359	4E-16		1.27	[1.19-1.33]	Illumina [458207]	N
615	chr6_dbb_hap3	3960903	3960904	rs9275572	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.32	HLA-DQ, HLA-DR	rs9275572-A	0.36	6E-9		1.3	[1.19-1.42]	Illumina [432703]	N
615	chr6_dbb_hap3	3960903	3960904	rs9275572	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-G	0.59	1E-35		2.21	[1.98-2.47]	Illumina [463301]	N
615	chr6_dbb_hap3	3962483	3962484	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Pack-years)	1.0E-4	[-0.00014-0.00025] unit decrease	NR [~ 2500000] (imputed)	N
615	chr6_dbb_hap3	3962483	3962484	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Ever-smoking)	0.001	[-0.04016-0.04216] unit decrease	NR [~ 2500000] (imputed)	N
615	chr6_dbb_hap3	3962837	3962838	rs7765379	25383971	Dunstan SJ	2014-11-10	Nat Genet	Variation at HLA-DRB1 is associated with resistance to enteric fever.	Enteric fever	432 Vietnamese ancestry cases, 2,011 Vietnamese ancestry controls	151 Vietnamese ancestry cases,  668 Vietnamese ancestry controls, 595 Nepalese ancestry cases, 386 Nepalese ancestry controls	6p21.32	HLA-DRB1, HLA-DQB1	rs7765379-A	0.945	2E-13		4.55	[2.94-6.67]	Illumina [709725]	N
615	chr6_dbb_hap3	3962837	3962838	rs7765379	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	HLA-DQA2, HLA-DOB, HLA-DQB1, PSMB9, HLA-DRB1, HLA-DQA1	rs7765379-G	NR	9E-59		1.93	[1.78-2.09]	Illumina [4929034] (imputed)	N
615	chr6_dbb_hap3	3962837	3962838	rs7765379	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	6p21.32	HLA-DRB1	rs7765379-?		5E-23		2.51	[NR]	Illumina [441398]	N
615	chr6_dbb_hap3	3963186	3963187	rs2858331	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQA2	rs2858331-G	NR	6E-6				Affymetrix, Illumina [NR] (imputed)	N
615	chr6_dbb_hap3	3963186	3963187	rs2858331	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p21.32	HLA-DQA2	rs2858331-G	NR	1E-8		0.04	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
615	chr6_dbb_hap3	3963264	3963265	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.763	6E-6		0.016	[0.0089-0.0227] kg/m2 increase	Affymetrix, Illumina [2550021]	N
615	chr6_dbb_hap3	3963264	3963265	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.76	9E-6	(EA)	0.016	[0.009-0.0232] kg/m2 increase	Affymetrix, Illumina [2550021]	N
615	chr6_dbb_hap3	3963540	3963541	rs9275596	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Peanut allergy	316 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 589 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	62 European ancestry child cases, 69 European ancestry child controls, 24 child cases, 58 child controls	6p21.32	HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DQA2	rs9275596-C	0.35	6E-11	(EA)	1.7	[1.40-2.10]	Illumina [6459842] (imputed)	N
615	chr6_dbb_hap3	3963540	3963541	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.8	1E-19	(East Asian)	1.69	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_dbb_hap3	3963540	3963541	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	3E-31		1.44	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_dbb_hap3	3963540	3963541	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	2E-15	(EA)	1.35		Illumina [> 1000000] (imputed)	N
615	chr6_dbb_hap3	3963540	3963541	rs9275596	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1, HLA-DQA1	rs9275596-?	0.73 (EA)	2E-26		1.59	[NR]	Illumina [498322]	N
615	chr6_dbb_hap3	3963578	3963579	rs6935723	25217962	Heap GA	2014-09-14	Nat Genet	HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.	Response to thiopurine immunosuppressants in inflammatory bowel disease (pancreatitis) (azathioprine and mercaptopurine)	172 European ancestry cases, 2,035 European ancestry controls	78 European ancestry cases, 472 controls	6p21.32	HLA region	rs6935723-C	0.27	1E-21		2.46	[2.04-2.98]	Affymetrix, Illumina [2819700] (imputed)	N
615	chr6_dbb_hap3	3963585	3963586	rs3104402	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs3104402-A	NR	6E-6		0.165	[0.094-0.236] unit decrease	Affymetrix [736996]	N
615	chr6_dbb_hap3	3964049	3964050	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
615	chr6_dbb_hap3	3964049	3964050	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
615	chr6_dbb_hap3	3967463	3967464	rs3916765	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p21.32	HLA-DQA2	rs3916765-A	0.12	1E-6	(Lean)	1.21	[1.12-1.31]	NR [NR]	N
615	chr6_dbb_hap3	3970179	3970180	rs9275698	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQA2	rs9275698-T	0.79	5E-12		1.18	[1.12-1.24]	Illumina [458847]	N
615	chr6_dbb_hap3	3980354	3980355	rs2859113	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs2859113-C	0.378328302013423	6E-8	(IGP59)	0.1817	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
615	chr6_dbb_hap3	3982660	3982661	rs2858884	20711174	Hor H	2010-08-15	Nat Genet	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	Narcolepsy	562 European ancestry cases, 702 European ancestry controls	370 cases, 495 controls	6p21.32	HLA-DQA2	rs2858884-A	0.81	3E-8		1.79	[1.45-2.17]	Affymetrix [392949]	N
615	chr6_dbb_hap3	3989856	3989857	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQA2	rs9276370-T	0.076	2E-12		1.95	[1.62-2.34]	Illumina [456262]	N
615	chr6_dbb_hap3	3989856	3989857	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_dbb_hap3	4006480	4006481	rs7756516	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_dbb_hap3	4007758	4007759	rs2301271	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2	rs2301271-T	0.40	2E-12	(anti-dsDNA -)	1.47	[1.32-1.63]	Illumina [421318] (imputed)	N
615	chr6_dbb_hap3	4009370	4009371	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.346381764494382	2E-8	(IGP42)	0.1909	[0.12-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
615	chr6_dbb_hap3	4009370	4009371	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.34601888034188	4E-8	(IGP2)	0.1853	[0.12-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
615	chr6_dbb_hap3	4012578	4012579	rs7453920	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-A	0.88	1E-60		2.0	[1.82-2.17]	Illumina [3680900] (imputed)	N
615	chr6_dbb_hap3	4012578	4012579	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.051	7E-15		2.31	[1.87-2.85]	Illumina [456262]	N
615	chr6_dbb_hap3	4012578	4012579	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_dbb_hap3	4012578	4012579	rs7453920	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.87	5E-37		1.8868	[1.69-2.08]	Illumina [490610]	N
615	chr6_dbb_hap3	4012578	4012579	rs7453920	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs7453920-?	NR	7E-26		2.0	[1.72-2.27]	Illumina [719265]	N
615	chr6_dbb_hap3	4012578	4012579	rs7453920	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2	rs7453920-?	NR	5E-6	(LYM)	1.19	[1.11-1.3]	Affymetrix [530583]	N
615	chr6_dbb_hap3	4012578	4012579	rs7453920	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HAL-DQB2	rs7453920-G	0.83	6E-28		1.81	[1.62-2.01]	Illumina [423627]	N
615	chr6_dbb_hap3	4012652	4012653	rs2051549	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	6p21.32	HLA-DQA2	rs2051549-?	NR	3E-22				Illumina [737984]	N
615	chr6_dbb_hap3	4019250	4019251	rs9276606	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs9276606-T	0.15	3E-22	(Serum level of C4)	0.09	[0.070-0.110] g/L decrease	Illumina [1940245] (imputed)	N
615	chr6_dbb_hap3	4024424	4024425	rs2621416	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2, TAP2	rs2621416-G	NR	2E-9	(FL)	1.57	[NR]	Affymetrix [530583]	N
615	chr6_dbb_hap3	4045780	4045781	rs2857151	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	6p21.32	HLA-DOB, HLA-DQB2	rs2857151-G	0.76	5E-11		1.47	[1.23-1.77]	Illumina [463793]	N
616	chr6_dbb_hap3	4064611	4064612	rs7383287	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs7383287-A	NR	1E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
616	chr6_dbb_hap3	4068561	4068562	rs1894407	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6p21.32	NR	rs1894407-C		1E-7		1.17	[1.11-1.24]	Affymetrix, Illumina [up to 3437411] (imputed)	N
616	chr6_dbb_hap3	4079151	4079152	rs2228391	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA	rs2228391-C	0.108	4E-7	(trend)	3.32	[2.02-5.46] (allelic)	Affymetrix [522980]	N
616	chr6_dbb_hap3	4079254	4079255	rs241436	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p21.32	TAP2	rs241436-G	0.49	8E-6	(men)	0.089	[0.05-0.128] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
616	chr6_dbb_hap3	4080109	4080110	rs1015166	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	TAP2	rs1015166-T	NR	4E-22		2.1428		Illumina [514008]	N
616	chr6_dbb_hap3	4085448	4085449	rs241428	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs241428-G	0.08	9E-83	(Serum level of C4)	0.23	[0.21-0.25] g/L increase	Illumina [1940245] (imputed)	N
616	chr6_dbb_hap3	4091225	4091226	rs9357155	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	TAP2, TAP1, PSMB8, PSMB9	rs9357155-?	0.87 (EA)	2E-12		1.41	[NR]	Illumina [498322]	N
616	chr6_dbb_hap3	4093006	4093007	rs2071543	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	PSMB9, TAP1, TAP2, PSMB8	rs2071543-G	0.80	2E-9	(East Asian)	1.41	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_dbb_hap3	4133978	4133979	rs2187689	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	PSMB9	rs2187689-C	0.08	3E-8		0.23	[0.15-0.31] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4136022	4136023	rs10046257	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10046257-A	0.10	3E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4137042	4137043	rs6457690	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6457690-A	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4137706	4137707	rs1029296	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029296-C	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4137807	4137808	rs1029295	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029295-C	0.10	5E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4138259	4138260	rs6936004	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6936004-C	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4138744	4138745	rs10214886	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10214886-A	0.10	2E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4141037	4141038	rs7744666	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs7744666-C	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4141073	4141074	rs11969002	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs11969002-A	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4142077	4142078	rs9469300	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs9469300-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_dbb_hap3	4143932	4143933	rs3749982	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs3749982-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_dbb_hap3	4194583	4194584	rs1480380	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	NR	rs1480380-C	0.908	6E-7	(Modelling analysis)			NR [1252901] (imputed)	N
617	chr6_dbb_hap3	4194583	4194584	rs1480380	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs1480380-T	0.0877	4E-39		3.05	[NR]	Illumina [242824]	N
617	chr6_dbb_hap3	4196063	4196064	rs73396800	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs73396800-G	NR	4E-16		1.1904762	[NR]	Illumina [7158791] (imputed)	N
617	chr6_dbb_hap3	4197188	4197189	rs16871226	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs16871226-G	0.0244821228239845	2E-6	(IGP67)	0.5182	[0.3-0.73] unit increase	Illumina [~ 2500000] (imputed)	N
617	chr6_dbb_hap3	4234621	4234622	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.87438328769575	7E-6	(IGP59)	0.2057	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
617	chr6_dbb_hap3	4234621	4234622	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874270331235955	2E-6	(IGP42)	0.2151	[0.13-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
617	chr6_dbb_hap3	4234621	4234622	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874157767431399	5E-6	(IGP2)	0.2092	[0.12-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
617	chr6_dbb_hap3	4234621	4234622	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873857556055831	6E-6	(IGP16)	0.2057	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
617	chr6_dbb_hap3	4234621	4234622	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873550828800713	6E-6	(IGP61)	0.206	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
617	chr6_dbb_hap3	4234621	4234622	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873514573726542	3E-6	(IGP58)	0.2131	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
617	chr6_dbb_hap3	4234621	4234622	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.872971129118433	6E-7	(IGP65)	0.2253	[0.14-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
617	chr6_dbb_hap3	4242703	4242704	rs9500927	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DOA	rs9500927-T	0.26	4E-9		1.13	[1.09-1.18]	Illumina [458847]	N
617	chr6_dbb_hap3	4253752	4253753	rs3128935	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	6p21.32	HLA-DOA	rs3128935-T	0.97	9E-6	(Age 20-60 years)	2.28	[1.59-3.28]	Affymetrix, Illumina [up to 17585496] (imputed)	N
617	chr6_dbb_hap3	4254947	4254948	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	White wine liking	381 Carlantino individuals, 744 Friuli Venezia Giulia individuals, 1,115 Val Borbera individuals	1,261 Erasmus Rucphen Family individuals, 335 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	2E-8		0.0539	[NR] unit increase	Illumina [9969492] (imputed)	N
617	chr6_dbb_hap3	4254947	4254948	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	Red wine liking	398 Carlantino individuals, 751 Friuli Venezia Giulia individuals, 1,122 Val Borbera individuals	1,246 Erasmus Rucphen Family individuals, 353 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	8E-6		0.0419	[NR] unit increase	Illumina [6967159] (imputed)	N
617	chr6_dbb_hap3	4256281	4256282	rs378352	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DOA	rs378352-T	0.39	1E-23		1.26	[1.20-1.31]	Illumina [3680900] (imputed)	N
617	chr6_dbb_hap3	4256361	4256362	rs399604	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.32	HLA-DOA	rs399604-C	NR	1E-10		2.346	[1.63-3.06] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
617	chr6_dbb_hap3	4314360	4314361	rs3077	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPA1	rs3077-A	0.66	1E-53		1.45	[1.39-1.52]	Illumina [3680900] (imputed)	N
617	chr6_dbb_hap3	4314360	4314361	rs3077	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs3077-?	NR	5E-39		1.89	[1.69-2.08]	Illumina [719265]	N
617	chr6_dbb_hap3	4314360	4314361	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	4E-45	(Protective effects against CHB)	1.82	[1.67-1.96]	Affymetrix [597789]	N
617	chr6_dbb_hap3	4314360	4314361	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	1E-9	(Clearance of HBV)	1.67	[1.43-2.0]	Affymetrix [597789]	N
617	chr6_dbb_hap3	4314360	4314361	rs3077	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPA1	rs3077-G	0.60	2E-61		1.87	[1.73-2.01]	Illumina [423627]	N
617	chr6_dbb_hap3	4324218	4324219	rs987870	21814517	Noguchi E	2011-07-21	PLoS Genet	Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.	Asthma	938 Japanese ancestry cases, 2,376 Japanese ancestry controls	1653 East Asian ancestry cases, 1453 East Asian ancestry controls	6p21.32	HLA, DPB1	rs987870-C	0.14	2E-10		1.4	[1.26-1.55]	Illumina [450326]	N
617	chr6_dbb_hap3	4324218	4324219	rs987870	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1	rs987870-?	0.15	2E-20	(ATA positive)	2.09	[1.78-2.45]	Illumina [NR] (imputed)	N
618	chr6_dbb_hap3	4329999	4330000	rs1042151	23180272	Park BL	2012-11-21	Hum Genet	Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.	Aspirin exacerbated respiratory disease in asthmatics	117 Korean ancestry cases, 685 Korean ancestry controls	142 Korean ancestry cases, 996 Korean ancestry controls	6p21.32	HLA-DPB1	rs1042151-G	0.083	5E-7		2.4	[1.68-3.42]	Illumina [430486]	N
618	chr6_dbb_hap3	4336191	4336192	rs9277535	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-A	0.58	1E-70		1.52	[1.45-1.59]	Illumina [3680900] (imputed)	N
618	chr6_dbb_hap3	4336191	4336192	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.251	5E-14		1.59	[1.41-1.79]	Illumina [456262]	N
618	chr6_dbb_hap3	4336191	4336192	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
618	chr6_dbb_hap3	4336191	4336192	rs9277535	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs9277535-?	NR	4E-40		1.89	[1.72-2.08]	Illumina [719265]	N
618	chr6_dbb_hap3	4336191	4336192	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-21	(Protective effects against CHB)	1.64	[1.47-1.82]	Affymetrix [597789]	N
618	chr6_dbb_hap3	4336191	4336192	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-17	(Clearance of HBV)	1.52	[1.37-1.67]	Affymetrix [597789]	N
618	chr6_dbb_hap3	4336191	4336192	rs9277535	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DPB1	rs9277535-?	NR	3E-12		1.39	[1.23-1.59]	Illumina [455508]	N
618	chr6_dbb_hap3	4336191	4336192	rs9277535	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.57	3E-54		1.77	[1.65-1.91]	Illumina [423627]	N
618	chr6_dbb_hap3	4336191	4336192	rs9277535	19349983	Kamatani Y	2009-04-06	Nat Genet	A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.	Hepatitis B	179 Japanese ancestry cases, 934 Japanese ancestry controls	1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls	6p21.32	HLA-DPB1	rs9277535-G		6E-39		1.75	[1.61-1.92]	Illumina [499544]	N
618	chr6_dbb_hap3	4336868	4336869	rs9277554	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	6p21.32	HLA-DOA, HSD17B8, RING1, COL11A2, RXRB, HLA-DPB1*04, HLA-DPB1, HLA-DPB2	rs9277554-C	0.708	2E-50		4.17	[3.33-5.00]	Illumina [287802]	N
618	chr6_dbb_hap3	4336935	4336936	rs9277555	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	6p21.32	NR	rs9277555-G		6E-7		0.0199	[0.010-0.030] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
618	chr6_dbb_hap3	4341448	4341449	rs2281388	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DPB1	rs2281388-T	0.32	2E-65		1.64	[1.55-1.74]	Illumina [486049]	N
618	chr6_dbb_hap3	4342152	4342153	rs6928954	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	6p21.32	intergenic	rs6928954-?	0.023	1E-6		0.075	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
618	chr6_dbb_hap3	4351223	4351224	rs3117242	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	6p21.32	HLA-DP, COL11A2	rs3117242-?	NR	1E-71		3.67	[NR]	Affymetrix [NR]	N
618	chr6_dbb_hap3	4353476	4353477	rs4282438	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	COL11A2, HLA-DPB1, HLA-DPA1	rs4282438-G	0.3546	9E-25		1.58	[1.45-1.72]	Affymetrix [556134]	N
618	chr6_dbb_hap3	4353476	4353477	rs4282438	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	HLA-DPB2	rs4282438-?	0.56	5E-27	(Stringently Matched)	1.35	[1.27-1.41]	Affymetrix [563339]	N
618	chr6_dbb_hap3	4378919	4378920	rs3129269	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs3129269-C	NR	5E-7	(East Asian)	1.29	[NR]	Illumina [> 1000000] (imputed)	N
618	chr6_dbb_hap3	4385480	4385481	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPA3	rs9366816-C	0.414	3E-10		1.43	[1.28-1.60]	Illumina [456262]	N
618	chr6_dbb_hap3	4385480	4385481	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
618	chr6_dbb_hap3	4425254	4425255	rs2254287	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	6p21.32	B3GALT4	rs2254287-G	0.38	5E-8		1.91	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
619	chr6_dbb_hap3	4485585	4485586	rs9277952	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	intergenic	rs9277952-?	0.53	2E-9	(Matched)	1.18	[1.12-1.23]	Affymetrix [563339]	N
585	chr6_mcf_hap5	79517	79518	rs4324798	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p22.1	TRNAA-UGC	rs4324798-A	0.09	2E-8		1.16	[1.09-1.24]	Illumina [515922]	N
586	chr6_mcf_hap5	200476	200477	rs2015436	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	6p22.1	TRIM27	rs2015436-T	0.73	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
586	chr6_mcf_hap5	219807	219808	rs4947339	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	6p22.1	TRIM27	rs4947339-T	0.438	2E-6	(epinehprine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
588	chr6_mcf_hap5	484277	484278	rs9257616	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	6p22.1	OR2J2, TRIM27, ZNF311, OR2W1, OR2B3, LOC651503, OR214J1, OR5V1, OR12D3, OR2J3	rs9257616-G	0.56	3E-7		0.093	[0.058-0.128] unit increase	Illumina [~ 2500000] (imputed)	N
589	chr6_mcf_hap5	655105	655106	rs9378134	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	6p22.1	OR12D3	rs9378134-A	0.04	3E-6		0.49	[0.29-0.69] unit increase	Illumina [2675979] (imputed)	N
590	chr6_mcf_hap5	658521	658522	rs3094548	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p22.1	OR12D2	rs3094548-G	NR	1E-7	(FEV1)	0.029	[0.019-0.039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
590	chr6_mcf_hap5	659650	659651	rs9257809	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	6p22.1	OR2D12, OR2D13, MHC	rs9257809-A	0.87	4E-9		1.21	[1.13-1.28]	Illumina [521744]	N
590	chr6_mcf_hap5	690178	690179	rs16894878	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.1	OR12D1P, OR11A1	rs16894878-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
590	chr6_mcf_hap5	737595	737596	rs4713226	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6p22.1	OR2H1	rs4713226-A		2E-8	(AA)			Illumina [NR]	N
590	chr6_mcf_hap5	764911	764912	rs1233491	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	MAS1L	rs1233491-C	0.088	8E-10		2.2	[1.58-3.08]	Affymetrix [906600]	N
591	chr6_mcf_hap5	824088	824089	rs16895057	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	6p22.1	OR2I1P	rs16895057-T	0.95	3E-6		0.153	[0.088-0.218] unit increase	Affymetrix [1532051] (imputed)	N
591	chr6_mcf_hap5	829588	829589	rs11970475	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p22.1	UBD	rs11970475-A	0.19	2E-24		0.07	[0.054-0.086] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
591	chr6_mcf_hap5	910243	910244	rs3095267	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p22.1	intergenic	rs3095267-?	0.81	9E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
591	chr6_mcf_hap5	914630	914631	rs29232	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	GABBR1	rs29232-A	0.46	9E-17		1.67	[1.48-1.88]	Illumina [480365]	N
592	chr6_mcf_hap5	929508	929509	rs2252711	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.1	MOG	rs2252711-T	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
592	chr6_mcf_hap5	952725	952726	rs385492	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs385492-T	NR	1E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
592	chr6_mcf_hap5	967059	967060	rs3131888	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	6p22.1	NR	rs3131888-C	NR	7E-6		1.2820514	[NR]	Illumina [up to 9792010] (imputed)	N
592	chr6_mcf_hap5	973425	973426	rs3129055	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-F	rs3129055-G	0.31	7E-11		1.51	[1.34-1.71]	Illumina [480365]	N
592	chr6_mcf_hap5	1023689	1023690	rs9258260	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	6p22.1	UBD, HLA-A, HLA-G, HLA-F, MOG, GABBR1, HLA-H	rs9258260-T	0.104	2E-10		1.45	[1.21-1.68]	Affymetrix, Illumina [1060934] (imputed)	N
593	chr6_mcf_hap5	1128898	1128899	rs2523822	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA	6p22.1	HLA-A	rs2523822-?	NR	2E-10		2.3	[1.80-2.90]	Illumina [822927]	N
593	chr6_mcf_hap5	1144256	1144257	rs2523809	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-G	rs2523809-T	NR	4E-8		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
593	chr6_mcf_hap5	1167057	1167058	rs189370103	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p22.1	NR	rs189370103-?	NR	8E-6	(Native Hawaiian)	1.0607	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
594	chr6_mcf_hap5	1295200	1295201	rs1061235	21428769	McCormack M	2011-03-24	N Engl J Med	HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.	Adverse response to carbamapezine	65 European ancestry cases, 3,987 European ancestry controls	80 European ancestry cases, 257 European ancestry controls		HLA-A*3101	rs1061235-?	NR	1E-7		9.12	[4.03-20.65]	Illumina [~ 1200000] (imputed)	N
594	chr6_mcf_hap5	1300011	1300012	rs2517713	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-A	rs2517713-A	0.62	4E-20		1.88	[1.65-2.15]	Illumina [480365]	N
594	chr6_mcf_hap5	1302245	1302246	rs9260489	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	HLA-A	rs9260489-G	0.58	2E-22		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
594	chr6_mcf_hap5	1302245	1302246	rs9260489	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p22.1	HLA-B	rs9260489-T	0.45	1E-11		1.21	[NR]	Affymetrix, Illumina [2529394]	N
594	chr6_mcf_hap5	1304637	1304638	rs16896742	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p22.1	HLA-A	rs16896742-G	0.38	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
594	chr6_mcf_hap5	1305733	1305734	rs2571391	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-A	rs2571391-C	NR	1E-15		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
595	chr6_mcf_hap5	1316027	1316028	rs6935053	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p22.1	HCG9	rs6935053-?	NR	2E-6	(Conditioned on rs9271366)			Illumina [581060]	N
595	chr6_mcf_hap5	1317113	1317114	rs3893464	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs3893464-G	0.36	2E-20		1.53	[1.39-1.67]	Perlegen [268068]	N
595	chr6_mcf_hap5	1323797	1323798	rs2523946	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p22.1	NR	rs2523946-C	0.511	5E-11		1.317	[1.217-1.426]	Illumina [3792949] (imputed)	N
595	chr6_mcf_hap5	1323797	1323798	rs2523946	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p22.1	HLA-A	rs2523946-C	0.50	2E-11		1.21	[1.15-1.28]	Illumina [444882]	N
595	chr6_mcf_hap5	1323937	1323938	rs3823355	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p22.1	HLA-A, HCG9	rs3823355-T	0.29	9E-23		1.5	[1.39-1.63]	Illumina [520460]	N
595	chr6_mcf_hap5	1324927	1324928	rs6904029	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6p22.1	HLA-A29.1, HCG9	rs6904029-?		3E-6	(PC3)	0.0464	[NR] unit decrease	Illumina [4167292] (imputed)	N
595	chr6_mcf_hap5	1352452	1352453	rs7758512	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	HLA-A, ZNRD1, RNF39	rs7758512-?	NR	2E-8	(progression)			Illumina [NR]	N
595	chr6_mcf_hap5	1355788	1355789	rs4313034	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs4313034-T	0.83	2E-15		1.67	[1.47-1.90]	Perlegen [268068]	N
595	chr6_mcf_hap5	1398963	1398964	rs6917603	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	6p22.1	PPP1R11	rs6917603-?	NR	3E-29	(XXL-VLDL-P)	0.24	[0.2-0.28] unit decrease	Illumina [~ 7700000] (imputed)	N
595	chr6_mcf_hap5	1407403	1407404	rs259919	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	ZNRD1, C6orf12	rs259919-?	NR	3E-7	(setpoint)			Illumina [NR]	N
595	chr6_mcf_hap5	1414419	1414420	rs8321	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs8321-?	NR	8E-9	(5 degree of freedom test)	1.081	[1.04-1.12]	NR [1252901] (imputed)	N
595	chr6_mcf_hap5	1414419	1414420	rs8321	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p22.1	ZNRD1, RNF39	rs8321-G	NR	5E-7				Illumina [291119]	N
596	chr6_mcf_hap5	1457747	1457748	rs2023472	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	TRIM31	rs2023472-A	0.38	3E-15		0.03	[0.022-0.038] unit increase	Affymetrix [2500000] (imputed)	N
596	chr6_mcf_hap5	1460156	1460157	rs2523989	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p22.1	TRIM31	rs2523989-A	NR	2E-8		1.7499		Illumina [514008]	N
596	chr6_mcf_hap5	1462249	1462250	rs34704616	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6p22.1	XXbac-BPG250I8.13	rs34704616-?	NR	6E-6	(Colorword)			Illumina [up to 563855]	N
596	chr6_mcf_hap5	1475248	1475249	rs10947055	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6p22.1	TRIM38	rs10947055-?	NR	2E-7	(additive, recessive)			Affymetrix [361034]	N
596	chr6_mcf_hap5	1501772	1501773	rs9468692	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	TRIM10	rs9468692-?	NR	1E-6	(setpoint)			Illumina [NR]	N
596	chr6_mcf_hap5	1547107	1547108	rs2523722	22883433	Irish Schizophrenia Genomics Consortium & the Wellcome Trust Case Control Consortium 2	2012-08-07	Biol Psychiatry	Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.	Schizophrenia	1,606 European ancestry cases, 1,794 European ancestry controls	13,195 European ancestry cases, 31,021 European ancestry controls	6p22.1	MHC, TRIM26	rs2523722-G	0.737	1E-16		1.25	[1.12-1.39]	Affymetrix [6212339]	N
596	chr6_mcf_hap5	1555966	1555967	rs2021722	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs2021722-?	0.789	2E-12	(Modelling analysis)			NR [1252901] (imputed)	N
596	chr6_mcf_hap5	1555966	1555967	rs2021722	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	6p22.1	TRIM26	rs2021722-C	0.78	2E-12		1.15	[1.11-1.19]	Affymetrix, Illumina [1252901] (imputed)	N
596	chr6_mcf_hap5	1561262	1561263	rs2844775	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6p22.1	TRIM31, TRIM10, PPP1R11, TRIM40, TRIM15, HLA-A29.1, TRIM26, HCG9, ZNRD1, RNF39	rs2844775-A	0.25	8E-7	(Temperament)	0.15	[NR] unit decrease	Affymetrix [677643]	N
599	chr6_mcf_hap5	1919459	1919460	rs3132613	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs3132613-C	0.25	1E-13		1.43	[1.30-1.57]	Perlegen [268068]	N
600	chr6_mcf_hap5	2048552	2048553	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937946818961625	6E-7	(IGP19)	0.3471	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mcf_hap5	2048552	2048553	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937725588025022	3E-6	(IGP74)	0.3262	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mcf_hap5	2048552	2048553	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937641317877842	2E-6	(IGP75)	0.3304	[0.19-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mcf_hap5	2048552	2048553	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937418950958538	3E-6	(IGP69)	0.3228	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mcf_hap5	2048552	2048553	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937308425901202	5E-7	(IGP76)	0.3469	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_mcf_hap5	2061510	2061511	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107712365538735	8E-6	(IGP65)	0.2214	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mcf_hap5	2061510	2061511	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107418420152946	8E-6	(IGP2)	0.2231	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_mcf_hap5	2061510	2061511	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107325880449438	3E-6	(IGP42)	0.2336	[0.14-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
602	chr6_mcf_hap5	2230209	2230210	rs7756521	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	VARS2, DDR1, DPCR1	rs7756521-?	NR	1E-6	(progression)			Illumina [NR]	N
602	chr6_mcf_hap5	2258106	2258107	rs1052693	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-A	rs1052693-G	0.36	3E-48	(Serum level of C4)	0.1	[0.080-0.120] g/L increase	Illumina [1940245] (imputed)	N
602	chr6_mcf_hap5	2295399	2295400	rs3132581	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.33	NR	rs3132581-G		2E-7	(Modelling analysis)			NR [1252901] (imputed)	N
602	chr6_mcf_hap5	2320828	2320829	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
602	chr6_mcf_hap5	2320828	2320829	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
602	chr6_mcf_hap5	2329454	2329455	rs3094084	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	MUC21, TRIM39, RPP21	rs3094084-T	0.154	2E-11		2.3	[1.76-3.01]	Affymetrix [906600]	N
602	chr6_mcf_hap5	2358165	2358166	rs28360974	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	6p21.33	MUC21	rs28360974-?	NR	3E-6	(Afro-Caribbean)	10.13	[3.85-26.67]	Illumina [2485249] (imputed)	N
603	chr6_mcf_hap5	2384047	2384048	rs7768644	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs7768644-A	0.091	3E-13	(trend)	5.01	[3.1-8.1] (allelic)	Affymetrix [522980]	N
603	chr6_mcf_hap5	2384562	2384563	rs4248154	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs4248154-C	0.54	1E-13		1.38	[1.27-1.50]	Perlegen [268068]	N
603	chr6_mcf_hap5	2388801	2388802	rs2844665	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	C6orf205	rs2844665-C	0.62	3E-7		1.54	[1.30-1.82]	Illumina [268914]	N
603	chr6_mcf_hap5	2398924	2398925	rs2251830	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	HCG22	rs2251830-A	0.36	5E-22		0.053	[0.041-0.065] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
603	chr6_mcf_hap5	2400354	2400355	rs2517532	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.33	HLA-C, LOC729792, HCG22, C6orf15, DHFRP2, HCP5, HLA-B	rs2517532-G	0.597	1E-8		1.16	[1.10-1.22]	Illumina [870065]	N
603	chr6_mcf_hap5	2400493	2400494	rs2523864	25813999	Jeong S	2015-04-01	Invest Ophthalmol Vis Sci	Identification of a Novel Mucin Gene HCG22 Associated with Steroid-Induced Ocular Hypertension.	Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)	64 European ancestry individuals	49 European ancestry individuals	6p21.33	HCG22, HLA-A, HLA-B, MUC22	rs2523864-T	0.412	5E-9				Illumina [1545328]	N
603	chr6_mcf_hap5	2406524	2406525	rs9262631	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9262631-A	0.063	6E-19	(trend)	7.09	[4.32-11.63] (allelic)	Affymetrix [522980]	N
603	chr6_mcf_hap5	2406731	2406732	rs9262632	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs9262632-G	0.10	1E-8	(AA)	3.1	[NR]	Illumina [1384048] (imputed)	N
603	chr6_mcf_hap5	2412045	2412046	rs2517510	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs2517510-T		4E-13	(WBC)	0.0129	[0.0094-0.0164] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
603	chr6_mcf_hap5	2440099	2440100	rs4947296	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	HCG22	rs4947296-?	NR	1E-11		2.57	[1.96-3.37]	Affymetrix [661736]	N
603	chr6_mcf_hap5	2440099	2440100	rs4947296	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	MUC21, C6orf15	rs4947296-C	0.14	4E-51		1.77	[1.65-1.91]	Illumina [486049]	N
603	chr6_mcf_hap5	2440261	2440262	rs3130544	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs3130544-A	NR	5E-7	(WBC)	0.0189	[0.011-0.026] unit decrease	Illumina [544917]	N
603	chr6_mcf_hap5	2440261	2440262	rs3130544	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	6p21.33	NR	rs3130544-A	0.13	2E-90		5.64	[4.77-6.67]	Illumina [274256]	N
603	chr6_mcf_hap5	2440261	2440262	rs3130544	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3130544-A	0.1238	9E-58		3.34	[NR]	Illumina [242824]	N
603	chr6_mcf_hap5	2451448	2451449	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		5E-6				NR [~ 3000000] (imputed)	N
603	chr6_mcf_hap5	2451448	2451449	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		2E-6				NR [~ 3000000] (imputed)	N
603	chr6_mcf_hap5	2455954	2455955	rs6457327	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.33	C6orf15	rs6457327-C	0.56	7E-6	(FL)	1.47	[1.27-1.72]	Illumina [312768]	N
603	chr6_mcf_hap5	2455954	2455955	rs6457327	19620980	Skibola CF	2009-07-20	Nat Genet	Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.	Follicular lymphoma	189 European ancestry cases, 592 European controls	456 European ancestry cases, 2,785 European ancestry controls	6p21.33	STG, PSORS1	rs6457327-C	0.62	5E-11		1.69	[1.43-2.00]	Illumina [~ 500000]	N
603	chr6_mcf_hap5	2463129	2463130	rs2233956	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs2233956-G	0.1813	6E-48		2.77	[NR]	Illumina [242824]	N
603	chr6_mcf_hap5	2467691	2467692	rs3094212	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	6p21.33	PSORS1C1, CDSN	rs3094212-C	0.35	7E-9		0.07	[0.046-0.094] unit increase	Illumina [561583]	N
603	chr6_mcf_hap5	2473888	2473889	rs9263688	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9263688-G	0.053	5E-21	(trend)	8.06	[4.86-13.37] (allelic)	Affymetrix [522980]	N
603	chr6_mcf_hap5	2475509	2475510	rs3815087	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	PSORS1C1	rs3815087-A	0.21	3E-7		1.53	[1.29-1.80]	Illumina [268914]	N
603	chr6_mcf_hap5	2475509	2475510	rs3815087	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	CDSN	rs3815087-?	NR	8E-8	(progression)			Illumina [NR]	N
603	chr6_mcf_hap5	2479244	2479245	rs3130559	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1	rs3130559-T	0.2	8E-9	(SP-D)			Illumina [588352]	N
603	chr6_mcf_hap5	2481520	2481521	rs4959053	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	PSORS1C1	rs4959053-?	.11	2E-20		4.38	[3.20-5.99]	Affymetrix [661736]	N
603	chr6_mcf_hap5	2482885	2482886	rs3823418	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	PSORS1C1	rs3823418-A	0.15	2E-7		0.026	[0.0084-0.0436] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
603	chr6_mcf_hap5	2483617	2483618	rs3130564	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	PSORS1C1	rs3130564-T	0.163	4E-10		2.05	[1.56-2.70]	Affymetrix [906600]	N
603	chr6_mcf_hap5	2483617	2483618	rs3130564	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	PSORS1C1	rs3130564-T	0.1934	1E-42		2.62	[NR]	Illumina [242824]	N
603	chr6_mcf_hap5	2484907	2484908	rs3132565	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs3132565-A	NR	1E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
603	chr6_mcf_hap5	2488212	2488213	rs3130573	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.33	PSORS1C1	rs3130573-G	0.32	6E-10		1.25	[1.17-1.35]	Illumina [489814]	N
603	chr6_mcf_hap5	2488403	2488404	rs1265097	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	PSORS1C1, PSORS1C2	rs1265097-A	0.115	2E-32		0.059	[0.049-0.069] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
603	chr6_mcf_hap5	2489131	2489132	rs1265093	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1, CCHCR1	rs1265093-A	0.26	6E-9	(SP-D)			Illumina [588352]	N
603	chr6_mcf_hap5	2489202	2489203	rs2285803	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	6p21.33	PSORS1C1, CCHCR1, TCF19, POU5F1, CDSN	rs2285803-A	0.32	1E-10		1.192	[1.13-1.26]	Illumina [414804]	N
604	chr6_mcf_hap5	2493291	2493292	rs9263739	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.33	HLA	rs9263739-T	0.15	4E-67		2.73	[2.43-3.07]	Illumina [513923]	N
604	chr6_mcf_hap5	2499947	2499948	rs1265112	21810746	Chantarangsu S	2011-08-01	Clin Infect Dis	Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.	Nevirapine-induced rash	72 Thai ancestry nevirapine-induced rash HIV cases, 77 Thai ancestry nevirapine-tolerant rash HIV cases	88 Thai ancestry nevirapine-induced rash HIV cases, 145 Thai ancestry nevirapine-tolerant HIV cases	6p21.33	CCHCR1	rs1265112-G	0.06	1E-8		4.36	[2.58-7.36]	Illumina [499730]	N
604	chr6_mcf_hap5	2500439	2500440	rs130067	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	6p21.33	CCHCR1	rs130067-G	0.21	3E-8		1.05	[1.02-1.09]	NR [2600000] (imputed)	N
604	chr6_mcf_hap5	2511231	2511232	rs7750641	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	TCF19	rs7750641-T	0.1263	3E-58		3.35	[NR]	Illumina [242824]	N
604	chr6_mcf_hap5	2512514	2512515	rs1419881	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	TCF19	rs1419881-G	0.55	3E-7		1.12	[1.08-1.18]	Illumina [3680900] (imputed)	N
604	chr6_mcf_hap5	2512514	2512515	rs1419881	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	TCF19	rs1419881-?	NR	1E-18		1.37	[1.23-1.52]	Illumina [719265]	N
604	chr6_mcf_hap5	2516825	2516826	rs3130931	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130931-C	0.69	8E-7		1.54	[1.29-1.84]	Illumina [268914]	N
604	chr6_mcf_hap5	2518390	2518391	rs3130501	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130501-G	0.74	2E-8		1.74	[1.43-2.13]	Illumina [268914]	N
604	chr6_mcf_hap5	2518651	2518652	rs3132524	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p21.33	TCF19, POU5F1	rs3132524-G		4E-9		1.07	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
604	chr6_mcf_hap5	2521392	2521393	rs879882	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs879882-?	NR	2E-7	(Conditioned on rs2256183)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
604	chr6_mcf_hap5	2521987	2521988	rs1265159	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs1265159-T	0.2191	4E-37		2.42	[NR]	Illumina [242824]	N
604	chr6_mcf_hap5	2524185	2524186	rs3094188	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.33	PSORS1C3	rs3094188-C	0.280	7E-7		1.61	[1.33-1.94]	Illumina [4929034] (imputed)	N
604	chr6_mcf_hap5	2524185	2524186	rs3094188	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3094188-A	0.63	3E-8		1.59	[1.34-1.88]	Illumina [268914]	N
604	chr6_mcf_hap5	2525522	2525523	rs3131018	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	PSORS1C3	rs3131018-C	0.625	4E-16	(EA)	2.1	[NR]	Illumina [1384048] (imputed)	N
604	chr6_mcf_hap5	2537739	2537740	rs1265181	19169255	Zhang XJ	2009-01-25	Nat Genet	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	Psoriasis	1,139 Han Chinese ancestry cases, 1,132 Han Chinese ancestry controls	5,721 Chinese ancestry cases, 7,340 Chinese ancestry controls	6p21.33	MHC	rs1265181-?	NR	2E-208		22.62		Illumina [494902]	N
604	chr6_mcf_hap5	2549999	2550000	rs6903896	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	6p21.33	NR	rs6903896-?	NR	6E-7	(sneeze)			Illumina [535076]	N
604	chr6_mcf_hap5	2552541	2552542	rs9263871	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.33	HCG27	rs9263871-G	NR	9E-6	(Dominant)	1.7	[1.35-2.13]	Affymetrix, Illumina [1621689] (imputed)	N
604	chr6_mcf_hap5	2566224	2566225	rs3869109	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	6p21.33	HCG27, HLA-C	rs3869109-G	NR	1E-9		1.14	[NR]	Affymetrix [~ 5000000] (imputed)	N
604	chr6_mcf_hap5	2568053	2568054	rs9263963	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9263963-T	0.113293342563644	1E-6	(IGP23)	0.2567	[0.15-0.36] unit increase	Illumina [~ 2500000] (imputed)	N
604	chr6_mcf_hap5	2579554	2579555	rs3130941	24324648	Yatagai Y	2013-12-04	PLoS One	Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.	IgE levels	967 Japanese ancestry individuals, 213 Japanese ancestry asthmatic individuals	1,894 Japanese ancestry individuals, 580 Japanese ancestry asthmatic individuals	6p21.33	HCG27, HLA-C	rs3130941-C	0.25	1E-10		0.098	unit increase	Illumina [479940]	N
604	chr6_mcf_hap5	2602203	2602204	rs3095254	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	6p21.33	MHC	rs3095254-C	0.461	8E-9	(Japanese)	0.035	[0.023-0.047] unit increase	Illumina [NR] (imputed)	N
604	chr6_mcf_hap5	2602203	2602204	rs3095254	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs3095254-C	0.46	6E-11	(monocyte count)	0.074	[0.05-0.09] unit increase	Illumina [2178645] (imputed)	N
604	chr6_mcf_hap5	2612636	2612637	rs3130542	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.16	9E-7		1.17	[1.10-1.24]	Illumina [3680900] (imputed)	N
604	chr6_mcf_hap5	2612636	2612637	rs3130542	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.13	9E-14		1.33	[1.23-1.44]	Illumina [490610]	N
604	chr6_mcf_hap5	2616040	2616041	rs2853953	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs2853953-A	0.9	5E-20		1.47	[1.35-1.59]	Illumina [3680900] (imputed)	N
604	chr6_mcf_hap5	2618849	2618850	rs9264638	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals			HLA-C	rs9264638-A	0.58	2E-23		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
604	chr6_mcf_hap5	2620952	2620953	rs2074488	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	HLA-C	rs2074488-T	0.13	2E-10	(SP-D)			Illumina [588352]	N
605	chr6_mcf_hap5	2621630	2621631	rs13191343	20953186	Huffmeier U	2010-10-17	Nat Genet	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	Psoriatic arthritis	572 European ancestry cases, 888 European ancestry controls	Up to 1,761 European ancestry cases, 3,727 European ancestry controls	6p21.33	HLA-C	rs13191343-T	0.13	2E-72		2.37	[2.16-2.61]	Affymetrix [1585307] (imputed)	N
605	chr6_mcf_hap5	2622686	2622687	rs2524079	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C3, HCG27, HLA-C, HLA-B	rs2524079-A		1E-11	(Lymphocytes)	0.0148	[0.010-0.019] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
605	chr6_mcf_hap5	2625473	2625474	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	6E-10		0.23	[NR] unit increase	Illumina [12100000] (imputed)	N
605	chr6_mcf_hap5	2625473	2625474	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	4E-10		0.25	[NR] unit increase	Illumina [12100000] (imputed)	N
605	chr6_mcf_hap5	2627705	2627706	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.717	8E-6	(Japanese)	0.013	[0.0071-0.0189] unit decrease	Illumina [NR] (imputed)	N
605	chr6_mcf_hap5	2627705	2627706	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.348	1E-8	(EA)	0.017	[0.011-0.023] unit decrease	Illumina [NR] (imputed)	N
605	chr6_mcf_hap5	2627705	2627706	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-?	NR	3E-14		0.0139	[0.010-0.017] unit decrease	Illumina [NR] (imputed)	N
605	chr6_mcf_hap5	2632888	2632889	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	6E-21	(CD8)	0.31	[0.25-0.37] SD decrease	Illumina [529721]	N
605	chr6_mcf_hap5	2632888	2632889	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	2E-28	(CD4:CD8)	0.37	[0.31-0.43] SD increase	Illumina [529721]	N
605	chr6_mcf_hap5	2633417	2633418	rs12191877	20953188	Ellinghaus E	2010-10-17	Nat Genet	Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.	Psoriasis	472 European ancestry cases, 1,146 European ancestry controls	2,668, European ancestry cases, 762 French Canadian founder population cases, 2,585 cases, 3,485 European ancestry controls, 994 French Canadian founder population controls, 2,412 controls	6p21.33	HLA-C	rs12191877-?	NR	4E-32		2.79	[2.35-3.33]	Illumina [2339118] (imputed)	N
605	chr6_mcf_hap5	2633417	2633418	rs12191877	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	6p21.33	HLA-C	rs12191877-T	0.15	1E-100		2.64	[NR]	Perlegen [~ 2500000] (imputed)	N
605	chr6_mcf_hap5	2639328	2639329	rs9468925	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA	rs9468925-?	0.617	2E-33		1.35	[1.28-1.41]	Illumina [493909]	N
605	chr6_mcf_hap5	2644246	2644247	rs2894207	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.33	HLA-C, HLA-B	rs2894207-?	0.82	3E-33		1.64	[1.52-1.75]	Illumina [464328]	N
605	chr6_mcf_hap5	2645994	2645995	rs2247056	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	HLA-C, HLA-B	rs2247056-T	0.27	4E-12		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
605	chr6_mcf_hap5	2645994	2645995	rs2247056	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	6p21.33	HLA	rs2247056-T	0.25	2E-15		2.99	[2.17-3.81] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
605	chr6_mcf_hap5	2652210	2652211	rs9461688	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6p21.33	HLA-C	rs9461688-?	0.31	4E-6	(IL18)			Illumina [496032]	N
605	chr6_mcf_hap5	2652755	2652756	rs6457374	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	HLA-C	rs6457374-T	0.73	8E-35		0.041	[0.035-0.047] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
605	chr6_mcf_hap5	2652815	2652816	rs9368677	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.33	HLA-C	rs9368677-G	0.798	1E-17		1.36	[1.27-1.46]	Illumina [606164]	N
605	chr6_mcf_hap5	2654874	2654875	rs9264942	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.33	NR	rs9264942-?	NR	5E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
605	chr6_mcf_hap5	2654874	2654875	rs9264942	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.33	PSORS1C1, NFKBIL1, HLA-C, MICB	rs9264942-C	0.378	5E-28		1.145	[1.107-1.184]	Affymetrix, Illumina [1230000] (imputed)	N
605	chr6_mcf_hap5	2654874	2654875	rs9264942	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-C	rs9264942-C	0.34	3E-35	(EA)	2.9	[NR]	Illumina [1384048] (imputed)	N
605	chr6_mcf_hap5	2654874	2654875	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-C	0.412	6E-32	(setpoint)	5.3	[NR] % increase	Illumina [NR]	N
605	chr6_mcf_hap5	2654874	2654875	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-?	NR	6E-12	(progression)			Illumina [NR]	N
605	chr6_mcf_hap5	2655068	2655069	rs10484554	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6p21.33	HLA-C	rs10484554-?	NR	4E-214		4.66	[4.23-5.13]	Illumina [535475]	N
605	chr6_mcf_hap5	2655068	2655069	rs10484554	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	HLA-C	rs10484554-T	0.13	6E-8				Illumina [291119]	N
605	chr6_mcf_hap5	2655068	2655069	rs10484554	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs10484554-T	0.15	2E-39		2.8	[2.40-3.30]	Illumina [305983]	N
605	chr6_mcf_hap5	2692065	2692066	rs3134792	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3134792-C	0.114	6E-72		3.93	[NR]	Illumina [242824]	N
605	chr6_mcf_hap5	2692065	2692066	rs3134792	18364390	Capon F	2008-03-25	Hum Mol Genet	Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.	Psoriasis	318 European ancestry cases, 288 European ancestry controls	2,361 European ancestry cases, 1,927 European ancestry controls	6p21.33	HLA-C	rs3134792-?	NR	1E-9				Illumina [~ 408000]	N
605	chr6_mcf_hap5	2700317	2700318	rs2442719	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.33	HLA-C, HLA-B	rs2442719-A	0.4161	8E-7	(Han)	0.3298	unit decrease	Illumina [up to 528294]	N
605	chr6_mcf_hap5	2701046	2701047	rs2596500	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs2596500-A	NR	8E-20		1.18	[NR]	Illumina [7158791] (imputed)	N
605	chr6_mcf_hap5	2702146	2702147	rs3819299	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.33	HLA-B	rs3819299-G	NR	9E-10		5.048	[3.43-6.66] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr6_mcf_hap5	2702338	2702339	rs2523608	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs2523608-A	0.59	9E-9		0.02	[0.012-0.028] unit increase	Affymetrix [2500000] (imputed)	N
605	chr6_mcf_hap5	2702338	2702339	rs2523608	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523608-G	0.326	9E-20	(AA)	2.6	[NR]	Illumina [1384048] (imputed)	N
605	chr6_mcf_hap5	2702338	2702339	rs2523608	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	6p21.33	HLA-B	rs2523608-?	0.37	3E-6				Illumina [1212217]	N
605	chr6_mcf_hap5	2702569	2702570	rs2523607	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	6p21.33	HLA-B	rs2523607-A	0.120	2E-10		1.32	[1.21-1.44]	Illumina [8363971] (imputed)	N
605	chr6_mcf_hap5	2703676	2703677	rs41549217	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	6p21.33	HLA-B, MICA, HCP5, HCG26	rs41549217-T	0.0288	2E-7		4.6582	[4.08-5.24]	Illumina [8809853] (imputed)	N
605	chr6_mcf_hap5	2706855	2706856	rs2523590	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523590-C	0.164	2E-13	(AA)	2.4	[NR]	Illumina [1384048] (imputed)	N
605	chr6_mcf_hap5	2707492	2707493	rs9378249	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	6p21.33	NR	rs9378249-?	NR	1E-8	(addtive)			Affymetrix [NR]	N
605	chr6_mcf_hap5	2711041	2711042	rs2523557	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	HLA-B, MICA	rs2523557-C	0.13	9E-35		7.33	[5.34-10.07]	Illumina [1392644]	N
606	chr6_mcf_hap5	2813891	2813892	rs3094604	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	intergenic	rs3094604-A	0.833	1E-7		1.39	[1.23-1.57]	Illumina [8129524] (imputed)	N
606	chr6_mcf_hap5	2818169	2818170	rs2596449	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs2596449-A	0.047	2E-13	(trend)	6.35	[3.68-10.96] (allelic)	Affymetrix [522980]	N
606	chr6_mcf_hap5	2819861	2819862	rs1055569	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Psychotic symptoms and prion disease	Up to 170 cases, 5,200 controls	NA	6p21.33	HCG26	rs1055569-?	0.291	3E-6		2.36	[1.66-3.35]	Illumina [518938]	N
606	chr6_mcf_hap5	2820448	2820449	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	3E-9		0.0069	[0.0046-0.0092] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
606	chr6_mcf_hap5	2820448	2820449	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	1E-9		0.0079	[0.0054-0.0105] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
606	chr6_mcf_hap5	2826579	2826580	rs2248462	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.33	MICB	rs2248462-?	NR	7E-16	(Total cHL)	1.64	[1.45-1.85]	Illumina [502514]	N
606	chr6_mcf_hap5	2828645	2828646	rs3749946	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	3.8-1, HCG26	rs3749946-A	0.07	2E-15		1.97	[1.66-2.33]	Illumina [480391]	N
606	chr6_mcf_hap5	2828759	2828760	rs3099844	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	6p21.33	HCG26, MICB	rs3099844-A	0.08	2E-8	(HDL)	0.15	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
606	chr6_mcf_hap5	2828759	2828760	rs3099844	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	6p21.33	NFKBIL1, LTA, AIF1, TNF, LTB	rs3099844-?	0.11	5E-10		3.34	[2.29-4.89]	Illumina [346110]	N
606	chr6_mcf_hap5	2852476	2852477	rs2855812	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	MICB	rs2855812-T	NR	2E-7	(FEV1)	0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_mcf_hap5	2855242	2855243	rs3132468	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	6p21.33	MICB	rs3132468-?	0.13	4E-11		1.34	[1.23-1.46]	Illumina [481342]	N
606	chr6_mcf_hap5	2861055	2861056	rs2516399	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs2516399-A	0.81	2E-12	(eosinophil count)	0.105	[0.08-0.14] unit increase	Illumina [2178645] (imputed)	N
606	chr6_mcf_hap5	2879352	2879353	rs3853601	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	6p21.33	BAT1	rs3853601-G	0.12	2E-6		1.13	[1.08-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_mcf_hap5	2885229	2885230	rs2734583	21912425	Tohkin M	2011-09-13	Pharmacogenomics J	A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.	Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)	14 Japanese ancestry cases, 991 Japanese ancestry controls	NA	6p21.33	PSORS1C1, PSORS1C3, BAT1, HLA-C, MICC, PPIAP9, POLR2LP, CCHCR1, TCF19, HLA-B*5801, HCP5, POU5F1	rs2734583-?	0.0055	2E-8		66.8	[19.8-225.0]	Illumina [890321]	N
607	chr6_mcf_hap5	2922013	2922014	rs1799964	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6p21.33	HLA-DQA2, LTA, TNF, LST1, LTB	rs1799964-C	0.209	4E-11		1.19	[1.13-1.25]	Affymetrix, Illumina [953241] (imputed)	N
607	chr6_mcf_hap5	2937491	2937492	rs11575839	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-C	rs11575839-A	0.05	1E-54	(Serum level of C4)	0.23	[0.21-0.25] g/L decrease	Illumina [1940245] (imputed)	N
607	chr6_mcf_hap5	2968073	2968074	rs2857693	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	BAT2	rs2857693-T	0.38	3E-29		0.034	[0.028-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
607	chr6_mcf_hap5	2970590	2970591	rs2736172	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	6p21.33	TNF, MICB	rs2736172-?		4E-6				Affymetrix [545513]	N
607	chr6_mcf_hap5	2975569	2975570	rs1046080	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6p21.33	PRRC2A	rs1046080-A	0.74	1E-14	(X-11444/X-11470)	0.027	[0.019-0.035] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
607	chr6_mcf_hap5	2981530	2981531	rs3115663	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT2	rs3115663-G	0.1812	7E-57		3.04	[NR]	Illumina [242824]	N
607	chr6_mcf_hap5	2982654	2982655	rs1046089	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.33	PRRC2A, BAG6	rs1046089-G	0.34	4E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
607	chr6_mcf_hap5	2982654	2982655	rs1046089	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	6p21.33	NR	rs1046089-A	0.3492	4E-11		0.1919	[0.13-0.25] years increase	NR [NR]	N
607	chr6_mcf_hap5	2982654	2982655	rs1046089	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	6p21.33	PRRC2A	rs1046089-A	0.353	2E-16		0.213	[0.16-0.26] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
607	chr6_mcf_hap5	2996039	2996040	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	2E-11		0.376	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_mcf_hap5	2996039	2996040	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	1E-10		0.054	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_mcf_hap5	2996039	2996040	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	3E-11		0.228	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_mcf_hap5	3000199	3000200	rs3117582	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p21.33	APOM, BAT3	rs3117582-C	0.10	5E-12		1.22	[1.15-1.29]	Illumina [515922]	N
607	chr6_mcf_hap5	3000199	3000200	rs3117582	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	6p21.33	BAT3	rs3117582-?	NR	4E-10		1.24	[1.16-1.33]	Illumina [511919]	N
607	chr6_mcf_hap5	3000199	3000200	rs3117582	18978787	Wang Y	2008-11-02	Nat Genet	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.	Lung cancer	5,095 European ancestry cases, 5,200 European ancestry cases	2,448 European ancestry cases, 2,983 European ancestry controls	6p21.33	BAT3, MSH5	rs3117582-C	NR	5E-10		1.24	[1.16-1.33]	Illumina [223891]	N
607	chr6_mcf_hap5	3002285	3002286	rs805297	21844665	Hu HJ	2011-08-16	Exp Mol Med	Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis.	Rheumatoid arthritis	100 Korean ancestry cases, 600 Korean ancestry controls	578 Korean ancestry cases, 711 Korean ancestry controls	6p21.33	APOM	rs805297-A	0.36	3E-10		1.56	[1.36-1.80]	Affymetrix [300909]	N
607	chr6_mcf_hap5	3011813	3011814	rs3130618	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	GPANK1	rs3130618-C	0.79	2E-7		1.34	[1.20-1.49]	Illumina [8129524] (imputed)	N
607	chr6_mcf_hap5	3011813	3011814	rs3130618	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT4	rs3130618-A	0.1811	2E-56		3.03	[NR]	Illumina [242824]	N
608	chr6_mcf_hap5	3016421	3016422	rs9267531	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	CSNK2B	rs9267531-?	NR	8E-8				Affymetrix [up to 700598]	N
608	chr6_mcf_hap5	3016421	3016422	rs9267531	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	CSNK2B, MSH5, MICA, MICB	rs9267531-G	0.1	3E-14		2.62	[1.93-3.54]	Affymetrix [906600]	N
608	chr6_mcf_hap5	3100721	3100722	rs3131379	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	MSH5	rs3131379-?	NR	8E-8				Affymetrix [up to 700598]	N
608	chr6_mcf_hap5	3100721	3100722	rs3131379	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	6p21.33	HLA region	rs3131379-A	0.1	2E-52		2.36	[2.11-2.64]	Illumina [317501]	N
609	chr6_mcf_hap5	3206582	3206583	rs67682613	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs67682613-G	NR	7E-19		1.1494253	[NR]	Illumina [7158791] (imputed)	N
609	chr6_mcf_hap5	3216939	3216940	rs11966200	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA-C, HLA-B	rs11966200-A	0.06	1E-48		1.9	[1.74-2.07]	Illumina [493909]	N
609	chr6_mcf_hap5	3218584	3218585	rs494620	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	6p21.33	NR	rs494620-?	NR	5E-7		0.3	[0.18-0.42] years increase	Illumina [315418]	N
609	chr6_mcf_hap5	3222470	3222471	rs12661281	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	6p21.33	SLC44A4	rs12661281-?	NR	1E-11		1.27	[NR]	Illumina [4471719] (imputed)	N
609	chr6_mcf_hap5	3223796	3223797	rs2736428	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	6p21.33	SLC44A4	rs2736428-T	NR	3E-6		0.05	[0.03-0.07] kb increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
609	chr6_mcf_hap5	3231106	3231107	rs652888	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	EHMT2	rs652888-G	0.24	1E-6		1.14	[1.08-1.19]	Illumina [3680900] (imputed)	N
609	chr6_mcf_hap5	3231106	3231107	rs652888	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	EHMT2	rs652888-?	NR	7E-13		1.38	[1.22-1.57]	Illumina [719265]	N
609	chr6_mcf_hap5	3231106	3231107	rs652888	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	EHMT2	rs652888-C	0.2021	3E-46		2.71	[NR]	Illumina [242824]	N
609	chr6_mcf_hap5	3247135	3247136	rs9267663	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	6p21.33	EHMT2	rs9267663-T	NR	6E-6		0.29	[0.16-0.42] unit decrease	Illumina [628922]	N
609	chr6_mcf_hap5	3250208	3250209	rs558702	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.33	C2	rs558702-A	0.1	8E-21		2.276	[2.097-2.47]	Illumina [NR]	N
609	chr6_mcf_hap5	3250738	3250739	rs9267665	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.33	HLA	rs9267665-?	NR	1E-17		2.05	[1.64-2.57]	Illumina [455508]	N
609	chr6_mcf_hap5	3263572	3263573	rs9267673	21105107	Clifford RJ	2010-12-01	Hepatology	Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.	Hepatocellular carcinoma	180 Korean ancestry cases, 271 Korean ancestry controls	206 Korean ancestry cases, 416 East Asian ancestry controls,	6p21.33	C2	rs9267673-?	0.08	2E-6		1.97	[1.47-2.64]	Affymetrix [658897]	N
610	chr6_mcf_hap5	3283647	3283648	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	C2	rs9332739-?	0.955	1E-6		2.63	[1.79-3.85]	Affymetrix, Illumina [6036699] (imputed)	N
610	chr6_mcf_hap5	3283647	3283648	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	C2	rs9332739-?	0.955	2E-8		2.08	[1.61-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
610	chr6_mcf_hap5	3283647	3283648	rs9332739	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	C2	rs9332739-?	0.96	2E-23		2.17	[NR]	Affymetrix [6036699] (imputed)	N
610	chr6_mcf_hap5	3285852	3285853	rs9380272	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs9380272-A	0.012	2E-8		4.31	[2.76-6.87]	Illumina [~ 2500000] (imputed)	N
610	chr6_mcf_hap5	3294022	3294023	rs12614	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	CFB	rs12614-T	0.92	1E-34		1.89	[1.69-2.08]	Illumina [3680900] (imputed)	N
610	chr6_mcf_hap5	3294023	3294024	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	CFB	rs641153-?	0.899	2E-9		2.13	[1.69-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
610	chr6_mcf_hap5	3294023	3294024	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	CFB	rs641153-?	0.899	1E-17		2.22	[1.85-2.63]	Affymetrix, Illumina [6036699] (imputed)	N
610	chr6_mcf_hap5	3294023	3294024	rs641153	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	CFB	rs641153-?	0.90	6E-31		1.85	[NR]	Affymetrix [6036699] (imputed)	N
610	chr6_mcf_hap5	3294023	3294024	rs641153	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	6p21.33	CFB, C2	rs641153-?	NR	2E-20				Affymetrix [632932]	N
610	chr6_mcf_hap5	3296794	3296795	rs541862	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.33	CFB	rs541862-T	0.99	9E-17		1.89	[1.61-2.17]	Illumina [2272849] (imputed)	N
610	chr6_mcf_hap5	3297383	3297384	rs4151657	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	CFB, BAT2, MSH5, HSPA1L, SLC44A4	rs4151657-G	0.29	5E-14		1.54	[1.38-1.73]	Illumina [480391]	N
610	chr6_mcf_hap5	3298703	3298704	rs1270942	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	BAT2, HSPA1L, CFB, TNXB, NOTCH4	rs1270942-C	NR	5E-25		3.0494		Illumina [514008]	N
610	chr6_mcf_hap5	3299760	3299761	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (extreme sampling)	720 European ancestry grade 5 cases, 513 European ancestry grade 1 controls	70 European ancestry grade 5 cases, 73 European ancestry grade 1 controls	6p21.33	RDBP, CFB, DKFZp779M0311	rs522162-?	0.93	3E-7		2.38	[1.69-3.33]	Affymetrix [2543887] (imputed)	N
610	chr6_mcf_hap5	3299760	3299761	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	RDBP, CFB, ATF6B, STK19	rs522162-?	0.93	2E-10		2.33	[1.82-3.03]	Affymetrix [2543887] (imputed)	N
610	chr6_mcf_hap5	3310194	3310195	rs2734331	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p21.33	SKIV2L	rs2734331-A	0.97	7E-13	(X-11470)	0.073	[0.053-0.093] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
610	chr6_mcf_hap5	3310284	3310285	rs592229	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	6p21.33	HLA	rs592229-G	0.43	2E-8		0.048	[0.030-0.066] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
610	chr6_mcf_hap5	3310284	3310285	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370399655280899	4E-6	(IGP42)	0.1536	[0.088-0.219] unit increase	Illumina [~ 2500000] (imputed)	N
610	chr6_mcf_hap5	3310284	3310285	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370283129554656	9E-6	(IGP2)	0.1479	[0.083-0.213] unit increase	Illumina [~ 2500000] (imputed)	N
610	chr6_mcf_hap5	3310305	3310306	rs429608	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	CFB, C2	rs429608-G	0.86	4E-89		1.74	[1.68-1.79]	Affymetrix, Illumina [2442884] (imputed)	N
610	chr6_mcf_hap5	3310305	3310306	rs429608	20861866	Kopplin LJ	2010-09-23	Genes Immun	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Age-related macular degeneration	684 European ancestry cases, 188 European ancestry controls	1,896 European ancestry cases, 1,866 European ancestry controls	6p21.33	BF, SKIV2L	rs429608-?	NR	5E-15		1.85	[NR]	Affymetrix [> 361556] (imputed)	N
610	chr6_mcf_hap5	3310305	3310306	rs429608	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs429608-G	0.842	3E-21		2.16	[1.84-2.53]	Illumina [~ 2500000] (imputed)	N
610	chr6_mcf_hap5	3313004	3313005	rs406936	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	SKIV2L	rs406936-?	0.10	7E-7		1.75	[1.41-2.17]	Affymetrix [2543887] (imputed)	N
610	chr6_mcf_hap5	3320740	3320741	rs389884	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	CFB, STK19, ZBTB12	rs389884-C	0.0953	2E-8	(EA, WBC)	0.0254	[0.017-0.034] unit decrease	Illumina [544917]	N
610	chr6_mcf_hap5	3320740	3320741	rs389884	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs389884-C	0.1148	8E-66		3.65	[NR]	Illumina [242824]	N
610	chr6_mcf_hap5	3386736	3386737	rs6455	26385043	Kertai MD	2015-06-17	Am Heart J	Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery.	Postoperative atrial fibrillation in coronary artery bypass grafting surgery	620 European ancestry cases, 257 European ancestry controls	220 cases, 84 controls	6p21.33	CYP21A2	rs6455-G	0.015	3E-6		1.96	[0.51-7.58]	Illumina [524975]	N
610	chr6_mcf_hap5	3399586	3399587	rs2857009	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2857009-G	0.20	1E-22	(Serum level of C4)	0.08	[0.060-0.100] g/L increase	Illumina [1940245] (imputed)	N
610	chr6_mcf_hap5	3406648	3406649	rs12198173	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	TNXB	rs12198173-?	NR	3E-6	(progression)			Illumina [NR]	N
611	chr6_mcf_hap5	3424706	3424707	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	3E-9		0.68	[0.44-0.92] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
611	chr6_mcf_hap5	3424706	3424707	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	6p21.33	CYP21A2	rs2021783-C	0.79	4E-11				Affymetrix, Illumina [2485448] (imputed)	N
611	chr6_mcf_hap5	3424706	3424707	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	2E-12		0.49	[0.35-0.63] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
611	chr6_mcf_hap5	3429905	3429906	rs185819	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.33	HLA class III	rs185819-T	0.52	3E-8		5.2	[3.44-6.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
611	chr6_mcf_hap5	3430596	3430597	rs1150754	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.33	TNXB	rs1150754-A	0.13	6E-29	(anti-dsDNA +)	2.21	[1.93-2.53]	Illumina [421318] (imputed)	N
611	chr6_mcf_hap5	3439702	3439703	rs1150753	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	TNXB	rs1150753-?	NR	6E-9				Affymetrix [up to 700598]	N
611	chr6_mcf_hap5	3449902	3449903	rs41268896	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	c6orf10	rs41268896-A	NR	4E-8		1.298	[1.238-1.361]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
611	chr6_mcf_hap5	3450834	3450835	rs41268902	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs41268902-A	NR	5E-6		1.09	[NR]	Illumina [7158791] (imputed)	N
611	chr6_mcf_hap5	3450843	3450844	rs3117181	21829377	Lemaitre RN	2011-07-28	PLoS Genet	Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Phospholipid levels (plasma)	8,866 European ancestry individuals	NA	6p21.32	TNXB	rs3117181-C	NR	5E-7	(DPA)	0.02	[NR] % increase	Affymetrix, Illumina [NR]	N
611	chr6_mcf_hap5	3454631	3454632	rs12153855	23886662	Weidinger S	2013-07-25	Hum Mol Genet	A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.	Atopic dermatitis	1563 European ancestry cases, 4,054 European ancestry controls	2,286 European ancestry cases, 3,160 European ancestry controls	6p21.32	TNXB, CREBL1	rs12153855-T	NR	3E-14		1.581	[1.405-1.779]	Illumina [2406139] (imputed)	N
611	chr6_mcf_hap5	3454631	3454632	rs12153855	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	TNXB	rs12153855-C	0.011	1E-9		1.44	[1.28-1.63]	Illumina [2272849] (imputed)	N
611	chr6_mcf_hap5	3456326	3456327	rs2269426	19198610	Gudbjartsson DF	2009-02-08	Nat Genet	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Eosinophil counts	9,392 European ancestry individuals	12,118 European ancestry individuals, 5,212 East Asian ancestry individuals	6p21.32	MHC	rs2269426-T	0.76	3E-6	(EA)	4.6	[2.7-6.6] % standard unit increase	Illumina [312179]	N
611	chr6_mcf_hap5	3459394	3459395	rs17207986	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.32	MHC	rs17207986-G	NR	1E-16	(Analysis III)	3.95	[NR]	Illumina [313720]	N
611	chr6_mcf_hap5	3489802	3489803	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	4E-11		0.0266	[0.019-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mcf_hap5	3489802	3489803	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	3E-9	(EA)	0.025	[0.017-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mcf_hap5	3489802	3489803	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
611	chr6_mcf_hap5	3489802	3489803	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
611	chr6_mcf_hap5	3489802	3489803	rs204999	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs204999-G	0.2643	9E-40		2.44	[NR]	Illumina [242824]	N
611	chr6_mcf_hap5	3494337	3494338	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196796488164359	4E-6	(IGP18)	0.1779	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_mcf_hap5	3494337	3494338	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.19676420855615	4E-6	(IGP25)	0.1773	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_mcf_hap5	3494337	3494338	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196432337204109	4E-8	(IGP23)	0.2111	[0.14-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_mcf_hap5	3502294	3502295	rs3096696	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	PPT2	rs3096696-A		4E-6		1.478		Affymetrix [NR]	N
611	chr6_mcf_hap5	3507305	3507306	rs3134950	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	6p21.32	AGPAT1, PPT2	rs3134950-A	0.625	6E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mcf_hap5	3507305	3507306	rs3134950	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		6p21.32	EGFL8, AGPAT1, PPT2	rs3134950-A	NR	1E-6		0.0945	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mcf_hap5	3514338	3514339	rs3096697	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	EGFL8	rs3096697-T	0.2054	1E-41		2.58	[NR]	Illumina [242824]	N
611	chr6_mcf_hap5	3516375	3516376	rs1061808	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	6p21.32	AGPAT1	rs1061808-?	NR	8E-10	(proportions)	0.9	[NR] % increase	Illumina [NR] (imputed)	N
611	chr6_mcf_hap5	3520315	3520316	rs3130284	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	AGPAT1	rs3130284-C	NR	7E-6		1.464		Affymetrix [NR]	N
611	chr6_mcf_hap5	3526320	3526321	rs3134945	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	RNF5	rs3134945-T	0.2049	2E-40		2.54	[NR]	Illumina [242824]	N
611	chr6_mcf_hap5	3526983	3526984	rs41268928	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	RNF5, NOTCH4, AGER	rs41268928-C	0.04	3E-16	(EA)	0.69	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_mcf_hap5	3529086	3529087	rs2071288	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	AGER, RNF5, NOTCH4	rs2071288-T	0.1	2E-8	(Blacks)	0.56	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_mcf_hap5	3531269	3531270	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	4E-9	(All)	0.23	[0.15-0.31] unit decrease	Illumina [6900000] (imputed)	N
611	chr6_mcf_hap5	3531269	3531270	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	5E-9	(%LAA-950, All)	0.14	[-0.07560-0.35560] unit decrease	Illumina [7600000] (imputed)	N
611	chr6_mcf_hap5	3531269	3531270	rs2070600	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	AGER	rs2070600-?	NR	1E-21	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
611	chr6_mcf_hap5	3531269	3531270	rs2070600	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	6p21.32	AGER, PPT2	rs2070600-T	0.04	3E-14	(FEV1/FVC)	1.0	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
611	chr6_mcf_hap5	3531269	3531270	rs2070600	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	6p21.32	AGER	rs2070600-T	0.06	3E-15	(FEV1/FVC)	0.088	[0.066-0.110] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mcf_hap5	3535404	3535405	rs204993	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	PBX2	rs204993-A	0.58	2E-15		1.17	[1.12-1.21]	Illumina [458847]	N
611	chr6_mcf_hap5	3538142	3538143	rs176095	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	GPSM3	rs176095-G	NR	3E-7		1.3020833	[1.18-1.44]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
611	chr6_mcf_hap5	3538142	3538143	rs176095	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	GPSM3	rs176095-T	0.81	8E-20		1.4	[1.30-1.51]	Illumina [606164]	N
612	chr6_mcf_hap5	3543571	3543572	rs13215567	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	GPSM3, NOTCH4	rs13215567-A	0.049	1E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
612	chr6_mcf_hap5	3545267	3545268	rs2071278	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRA	rs2071278-G	0.27	4E-72	(Serum level of C4)	0.13	[0.11-0.15] g/L decrease	Illumina [1940245] (imputed)	N
612	chr6_mcf_hap5	3550908	3550909	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	5E-7	(EA)	1.25	[NR]	NR [1085772] (imputed)	N
612	chr6_mcf_hap5	3550908	3550909	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	3E-7		1.25	[NR]	NR [1085772] (imputed)	N
612	chr6_mcf_hap5	3551516	3551517	rs2071277	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	NOTCH4	rs2071277-C	0.219	2E-11		1.3	[1.20-1.41]	Illumina [2272849] (imputed)	N
612	chr6_mcf_hap5	3552826	3552827	rs3131296	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	6p21.32	MHC, NOTCH4	rs3131296-G	0.87	2E-10		1.19	[NR]	Illumina [314868]	N
612	chr6_mcf_hap5	3559724	3559725	rs2071286	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	NOTCH4	rs2071286-?	0.29	2E-8		2.15	[NR]	Illumina [899641]	N
612	chr6_mcf_hap5	3564194	3564195	rs404860	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	NOTCH4	rs404860-A	0.50	4E-23		1.21	[1.16-1.25]	Illumina [458847]	N
612	chr6_mcf_hap5	3568232	3568233	rs422951	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	NOTCH4	rs422951-G	0.81	5E-16		1.27	[1.20-1.35]	Illumina [3680900] (imputed)	N
612	chr6_mcf_hap5	3569874	3569875	rs3132946	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	6p21.32	NR	rs3132946-A	0.12	8E-6		1.38	[1.21-1.57]	Illumina [439828]	N
612	chr6_mcf_hap5	3570252	3570253	rs443198	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs443198-?	0.63	9E-21	(ACA positive)	1.82	[1.59-2.04]	Illumina [NR] (imputed)	N
612	chr6_mcf_hap5	3570466	3570467	rs3134931	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		6p21.32	HLA, NOTCH4, C2	rs3134931-T	0.73	1E-8		0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [2397181]	N
612	chr6_mcf_hap5	3572177	3572178	rs3096702	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	6p21.32	CYP21A2, DOM3Z, FKBPL, HLA-DRB6, HCG23, LOC10029, ATF6B, LOC100293534, AGER, LOC100507547, MIR1236, PPT2, PPT2-EGF, HLA-DRA, PPT2-EGFL8, RNF5, RNF5P1, CFB, RDBP, TNXA, TNXB, HLA-DQB1, NOTCH4, SKIV2L, STK19, GPSM3, PBX2, LOC10050, EGFL8, AGPAT1, C2, C4A, PRRT1, BTNL2, C4B, HLA-DRB5, C6orf10, HLA-DRB1, CYP21A1P, HLA-DQA1	rs3096702-A	0.4	5E-9		1.07	[1.04-1.10]	Illumina [~ 2600000] (imputed)	N
612	chr6_mcf_hap5	3584890	3584891	rs549182	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	NOTCH4	rs549182-A	0.11	8E-10		1.59	[1.37-1.85]	Illumina [480391]	N
612	chr6_mcf_hap5	3584955	3584956	rs9267911	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	PBX2, NOTCH4	rs9267911-T	0.479	3E-7		1.5	[1.29-1.76]	Illumina [4929034] (imputed)	N
612	chr6_mcf_hap5	3588169	3588170	rs424232	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	6p21.32	HLA	rs424232-C		5E-21				Illumina [944512] (imputed)	N
612	chr6_mcf_hap5	3590644	3590645	rs419132	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6p21.32	HLA-area	rs419132-G	0.2	5E-12		0.056	[0.04-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
612	chr6_mcf_hap5	3596938	3596939	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-C	0.585	6E-6	(EA)	0.02	[0.012-0.028] unit increase	Illumina [NR] (imputed)	N
612	chr6_mcf_hap5	3596938	3596939	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-?	NR	3E-8		0.0196	[0.013-0.026] unit decrease	Illumina [NR] (imputed)	N
612	chr6_mcf_hap5	3597078	3597079	rs9267972	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	C6orf10, NOTCh4	rs9267972-A	NR	2E-6	(Dominant)	1.85	[1.46,2.33]	Affymetrix, Illumina [1621689] (imputed)	N
612	chr6_mcf_hap5	3598689	3598690	rs3115573	20595679	Feehally J	2010-07-01	J Am Soc Nephrol	HLA has strongest association with IgA nephropathy in genome-wide analysis.	Nephropathy	187 European ancestry child cases, 244 European ancestry cases, 4,980 European ancestry controls	NA	6p21.32	intergenic	rs3115573-?	NR	1E-9		1.62	[1.39-1.90]	Illumina [286200]	N
612	chr6_mcf_hap5	3598835	3598836	rs9296015	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs9296015-?	0.81	1E-8	(ATA positive)	1.85	[1.49-2.27]	Illumina [NR] (imputed)	N
612	chr6_mcf_hap5	3598835	3598836	rs9296015	21505073	Terao C	2011-04-19	Hum Mol Genet	The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.	Rheumatoid arthritis	1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls	4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls	6p21.32	HLA locus	rs9296015-?	NR	2E-38				Illumina [241523]	N
612	chr6_mcf_hap5	3662754	3662755	rs6910071	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6p21.32	HLA-DRB1	rs6910071-G	0.22	1E-299		2.88	[2.73-3.03]	Affymetrix, Illumina [~ 2716259] (imputed)	N
613	chr6_mcf_hap5	3685891	3685892	rs3129900	20639878	Singer JB	2010-07-18	Nat Genet	A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.	Lumiracoxib-related liver injury	31 European ancestry cases, 3 Hispanic cases, 1 case, 176 European, Hispanic and other ancestry controls	79 European ancestry cases, 16 Hispanic ancestry cases, 1 case, 405 European, Hispanic and other ancestry controls	6p21.32	HLA-DRB1	rs3129900-?	0.105	7E-25		7.5	[5.0-11.3]	Affymetrix [682386]	N
613	chr6_mcf_hap5	3688822	3688823	rs9469099	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	C6orf10	rs9469099-G	0.909	5E-19		1.61	[1.44-1.80]	Illumina [606164]	N
613	chr6_mcf_hap5	3695292	3695293	rs910049	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	C6orf10	rs910049-A	0.142	9E-11		1.46	[1.28-1.62]	Illumina [431618]	N
613	chr6_mcf_hap5	3699198	3699199	rs9268301	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	C6orf10	rs9268301-A	0.438	2E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
613	chr6_mcf_hap5	3701111	3701112	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
613	chr6_mcf_hap5	3701111	3701112	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
613	chr6_mcf_hap5	3701111	3701112	rs2395148	18576341	Behrens EM	2008-06-24	Arthritis Rheum	Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.	Arthritis (juvenile idiopathic)	67 European ancestry cases, 1,952 European ancestry controls, 63 cases	NA	6p21.32	HLA-DRB1	rs2395148-?	NR	2E-10		5.37	[3.02-9.56]	Illumina [524684]	N
613	chr6_mcf_hap5	3704928	3704929	rs13196329	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.32	C6orf10	rs13196329-C	0.02	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
613	chr6_mcf_hap5	3715760	3715761	rs3129934	22457343	Martinelli-Boneschi F	2012-03-28	Mult Scler	A genome-wide association study in progressive multiple sclerosis.	Multiple sclerosis	197 European ancestry cases, 234 European ancestry controls	379 European ancestry cases, 398 European ancestry controls	6p21.32	C6orf10	rs3129934-T	0.10	7E-16		2.34	[1.90-2.87]	Affymetrix [277866]	N
613	chr6_mcf_hap5	3715760	3715761	rs3129934	18941528	Comabella M	2008-10-22	PLoS One	Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.	Multiple sclerosis	242 European ancestry cases, 242 European ancestry controls	553 European ancestry cases, 1,033 European ancestry controls	6p21.32	HLA-DRB1	rs3129934-T	NR	9E-11		3.3	[2.3-4.9]	Affymetrix [428867]	N
613	chr6_mcf_hap5	3716338	3716339	rs3129939	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs3129939-G	0.1772	2E-40		2.6	[NR]	Illumina [242824]	N
613	chr6_mcf_hap5	3717205	3717206	rs2273017	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.32	MHC	rs2273017-A	0.51	2E-22		1.53	[1.40-1.66]	Perlegen [268068]	N
613	chr6_mcf_hap5	3718280	3718281	rs3129943	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	C6orf10	rs3129943-T	0.62	3E-15		1.17	[1.12-1.21]	Illumina [458847]	N
613	chr6_mcf_hap5	3718660	3718661	rs2050190	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	6p21.32	C6orf10	rs2050190-A	NR	7E-7		0.2528	[0.17-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
613	chr6_mcf_hap5	3720937	3720938	rs9268402	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6p21.32	BTNL2, C6orf10	rs9268402-G	0.59	3E-15		1.16	[1.12-1.20]	Affymetrix [~ 2200000] (imputed)	N
613	chr6_mcf_hap5	3724862	3724863	rs7758128	21326295	Jin Y	2011-02-17	J Invest Dermatol	Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.	Vitiligo	1,339 European ancestry cases	677 European ancestry cases	6p21.32	BTNL2, C6orf10	rs7758128-A	0.06	8E-11				Illumina [520460]	N
613	chr6_mcf_hap5	3737826	3737827	rs3117099	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.32	other genes, MHC	rs3117099-?	NR	3E-6		1.25	[NR]	Affymetrix [745006]	N
613	chr6_mcf_hap5	3738070	3738071	rs3117098	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	BTNL2	rs3117098-G	0.25	5E-12		1.16	[1.11-1.21]	Illumina [458847]	N
613	chr6_mcf_hap5	3742772	3742773	rs1980493	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	BTNL2	rs1980493-G	NR	2E-20		2.5034		Illumina [514008]	N
613	chr6_mcf_hap5	3742772	3742773	rs1980493	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	BTNL2	rs1980493-G	0.1656	1E-48		2.87	[NR]	Illumina [242824]	N
613	chr6_mcf_hap5	3742772	3742773	rs1980493	19287509	Cui J	2009-03-14	Mol Med	Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.	Anti-cyclic Citrullinated Peptide Antibody	531 European ancestry cases	849 European ancestry cases	6p21.32	HLA-DRA, BTNL2	rs1980493-?	0.13	5E-7				Affymetrix [97248]	N
613	chr6_mcf_hap5	3743373	3743374	rs2076530	22936702	Hofmann S	2012-08-30	Eur Respir J	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.	Sarcoidosis	637 European ancestry cases, 1,233 European ancestry controls	3,121 European ancestry cases, 4,284 European ancestry controls	6p21.32	BTNL2	rs2076530-?	NR	3E-11	(Chronic)			Affymetrix [677619]	N
613	chr6_mcf_hap5	3743401	3743402	rs9268480	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	BTNL2	rs9268480-G	0.91	3E-6		1.82	[1.43-2.33]	Illumina [513923]	N
613	chr6_mcf_hap5	3743512	3743513	rs2076529	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p21.32	BTNL2	rs2076529-C	0.43	4E-7		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
613	chr6_mcf_hap5	3747644	3747645	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	BTNL2	rs3817963-?	NR	8E-6	(OCB positive vs. controls)	1.52	[1.27-1.79]	Illumina [495970]	N
613	chr6_mcf_hap5	3747644	3747645	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	BTNL2	rs3817963-?	NR	6E-10		1.61	[1.38-1.87]	Illumina [495970]	N
613	chr6_mcf_hap5	3747644	3747645	rs3817963	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-A	0.315	1E-8		1.3	[1.18-1.42]	Illumina [431618]	N
613	chr6_mcf_hap5	3747644	3747645	rs3817963	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-G	0.318	3E-10		1.18	[1.12-1.24]	Illumina [538166]	N
613	chr6_mcf_hap5	3750148	3750149	rs9461741	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.32	BTNL2	rs9461741-C	0.018	4E-15		2.66	[2.08-3.39]	Illumina [611856]	N
613	chr6_mcf_hap5	3752793	3752794	rs10947261	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs10947261-T	0.294	3E-12		1.36	[1.25-1.49]	Illumina [5664371] (imputed)	N
613	chr6_mcf_hap5	3752873	3752874	rs10947262	20305777	Nakajima M	2010-03-18	PLoS One	New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.	Knee osteoarthritis	899 Japanese ancestry cases, 3,396 Japanese ancestry controls	167 Japanese ancestry cases, 347 Japanese ancestry controls, 813 European ancestry  cases, 1,071 European ancestry controls,	6p21.32	HLA-DQA2, HLA-DQB1, BTNL2	rs10947262-T	0.42	5E-9		1.31	[1.20-1.44]	Illumina [459393]	N
613	chr6_mcf_hap5	3753261	3753262	rs3806156	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p21.32	HLA-DRA, BTNL2, HLA-DQA1	rs3806156-T	0.37	7E-19		1.42	[1.32-1.54]	Illumina [520460]	N
613	chr6_mcf_hap5	3755533	3755534	rs3763309	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	6p21.32	HLA-DRB1	rs3763309-?		2E-124		2.3	[2.14-2.46]	Affymetrix, Illumina [1831729] (imputed)	N
613	chr6_mcf_hap5	3755908	3755909	rs3763312	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.32	BTNL2, HLA-DRA	rs3763312-A	0.15	6E-6	(Han)	0.4002	unit decrease	Illumina [up to 528294]	N
613	chr6_mcf_hap5	3756031	3756032	rs3763313	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.32	NOTCH4, BTNL2	rs3763313-?	NR	2E-6	(progression)			Illumina [NR]	N
613	chr6_mcf_hap5	3756348	3756349	rs3763317	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRB	rs3763317-C	0.37	9E-66	(Serum level of C4)	0.12	[0.10-0.14] g/L increase	Illumina [1940245] (imputed)	N
613	chr6_mcf_hap5	3758262	3758263	rs9268516	23028483	Ramasamy A	2012-09-28	PLoS One	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Asthma	1,716 European ancestry cases, 16,888 European ancestry controls	4,035 European ancestry cases, 11,251 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268516-T	0.24	1E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 2200000] (imputed)	N
613	chr6_mcf_hap5	3758509	3758510	rs9405098	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs9405098-A	0.253	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
613	chr6_mcf_hap5	3760508	3760509	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.517	2E-11		0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mcf_hap5	3760508	3760509	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5158	5E-8	(women)	0.0241	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mcf_hap5	3760508	3760509	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5154	4E-6	(men)	0.0223	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mcf_hap5	3760508	3760509	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.511	4E-11	(EA)	0.0226	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mcf_hap5	3760508	3760509	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5107	2E-7	(EA, women)	0.0237	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mcf_hap5	3760508	3760509	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5106	5E-6	(EA, men)	0.0226	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mcf_hap5	3761827	3761828	rs4959027	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.32	TAP2, HLA-DRA	rs4959027-G	0.82	9E-7	(Pubertal growth)	0.09	[0.057-0.123] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
613	chr6_mcf_hap5	3761885	3761886	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_mcf_hap5	3761885	3761886	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_mcf_hap5	3763498	3763499	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_mcf_hap5	3763498	3763499	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_mcf_hap5	3766582	3766583	rs2395163	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	6p21.32	LOC642072	rs2395163-?	NR	3E-11		1.24	[NR]	Illumina [2500000] (imputed)	N
613	chr6_mcf_hap5	3767916	3767917	rs116869525	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA-DRB1*08:03	rs116869525-T	0.083	1E-8	(trend)	4.16	[2.50-6.90] (allelic)	Affymetrix [522980]	N
613	chr6_mcf_hap5	3768421	3768422	rs3135363	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DR	rs3135363-?	NR	8E-7		1.51	[1.28-1.78]	Illumina [588026]	N
613	chr6_mcf_hap5	3768421	3768422	rs3135363	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3135363-C	0.702	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
613	chr6_mcf_hap5	3768421	3768422	rs3135363	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DR	rs3135363-?	NR	7E-22		1.53	[1.35-1.74]	Illumina [455508]	N
613	chr6_mcf_hap5	3768421	3768422	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
613	chr6_mcf_hap5	3768421	3768422	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
613	chr6_mcf_hap5	3771738	3771739	rs3135350	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	6p21.32	NOTCH4, HLA-DRA, BTNL2	rs3135350-G	0.046	9E-8	(Gliadin)	0.51	[NR] unit increase	Illumina [944565] (imputed)	N
613	chr6_mcf_hap5	3779849	3779850	rs3129860	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3129860-A	0.231	1E-9		1.36	[1.22-1.49]	Illumina [431618]	N
613	chr6_mcf_hap5	3779987	3779988	rs3135338	20159113	Jakkula E	2010-02-12	Am J Hum Genet	Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.	Multiple sclerosis	68 Finland founder cases, 136 Finland founder controls	83 Finland founder cases, 365 Finland founder controls 3,285 European ancestry cases, 6,379 European ancestry controls, 1,202 cases, 3,399 controls	6p21.32	HLA	rs3135338-A	0.13	2E-25		3.43	[NR]	Illumina [297343]	N
613	chr6_mcf_hap5	3785118	3785119	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRA	rs3129871-?	NR	1E-16	(OCB positive vs. controls)	1.98	[1.68-2.32]	Illumina [495970]	N
613	chr6_mcf_hap5	3785118	3785119	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	HLA-DRA	rs3129871-?	NR	6E-15		1.72	[1.59-1.86]	Illumina [495970]	N
613	chr6_mcf_hap5	3787298	3787299	rs9268645	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	6p21.32	MHC	rs9268645-?	NR	1E-100				Affymetrix, Illumina [841622] (imputed)	N
613	chr6_mcf_hap5	3788301	3788302	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	5E-10	(Sporadic)	1.38	[1.24-1.52]	Illumina [811597]	N
613	chr6_mcf_hap5	3788301	3788302	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	3E-8		1.31	[1.19-1.43]	Illumina [811597]	N
613	chr6_mcf_hap5	3788301	3788302	rs3129882	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRA	rs3129882-?	0.44	2E-27	(ATA positive)	2.17	[1.88-2.50]	Illumina [NR] (imputed)	N
613	chr6_mcf_hap5	3788301	3788302	rs3129882	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	6p21.32	HLA-DRA	rs3129882-G	0.40	2E-10		1.26	[1.17-1.35]	Illumina [811597]	N
613	chr6_mcf_hap5	3790417	3790418	rs7192	22541561	Zhao H	2012-04-26	Am J Hum Genet	A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.	Non-obstructive azoospermia	802 Han Chinese ancestry cases, 1,863 Han Chinese ancestry controls	1,424 Han Chinese ancestry cases, 2,713 Han Chinese ancestry controls	6p21.32	HLA-DRA	rs7192-T	0.26	3E-6		1.29	[NR]	Affymetrix, Illumina [912924]	N
613	chr6_mcf_hap5	3791214	3791215	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	3E-17		0.045	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_mcf_hap5	3791214	3791215	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	1E-21		0.048	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_mcf_hap5	3791214	3791215	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	2E-15		1.83	[1.36-2.3] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_mcf_hap5	3791214	3791215	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	4E-19		2.31	[1.78-2.84] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_mcf_hap5	3791830	3791831	rs3135388	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
613	chr6_mcf_hap5	3791830	3791831	rs3135388	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p21.32	HLA-DRB1	rs3135388-A	0.22	4E-225		2.75	[2.46-3.07]	Affymetrix, Illumina [~ 2560000] (imputed)	N
613	chr6_mcf_hap5	3791830	3791831	rs3135388	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	6p21.32	HLA-DRA	rs3135388-A	0.23	9E-81		1.99	[1.84-2.15]	Affymetrix [334923]	N
613	chr6_mcf_hap5	3792238	3792239	rs2227139	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p21.32	intergenic	rs2227139-G	NR	1E-7	(WBC)	0.02	[0.01-0.03] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
613	chr6_mcf_hap5	3792324	3792325	rs3129889	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3129889-G	0.20	1E-206		2.97	[NR]	Affymetrix, Illumina [2529394]	N
613	chr6_mcf_hap5	3793050	3793051	rs3129890	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DRA	rs3129890-T	0.61	5E-13		1.15	[1.11-1.20]	Illumina [458847]	N
614	chr6_mcf_hap5	3803570	3803571	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.72	1E-10	(East Asian)	1.3	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_mcf_hap5	3803570	3803571	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	2E-38		1.41	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_mcf_hap5	3803570	3803571	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	1E-30	(EA)	1.49	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_mcf_hap5	3806976	3806977	rs6903608	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	6p21.32	HLA class II, HLA class I	rs6903608-C	0.30	7E-31		1.64	[1.51-1.78]	Affymetrix, Illumina [1004829] (imputed)	N
614	chr6_mcf_hap5	3806976	3806977	rs6903608	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	6p21.32	NR	rs6903608-G	0.27	5E-27		1.62	[NR]	Illumina [296129]	N
614	chr6_mcf_hap5	3806976	3806977	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
614	chr6_mcf_hap5	3806976	3806977	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
614	chr6_mcf_hap5	3806976	3806977	rs6903608	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	6p21.32	HLA-DRA	rs6903608-G	0.27	3E-50		1.7	[1.58-1.82]	Illumina [504374]	N
614	chr6_mcf_hap5	3807463	3807464	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250	(EA)	2.47	[2.39-2.55]	Affymetrix, Illumina [up to 9739303] (imputed)	N
614	chr6_mcf_hap5	3807463	3807464	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250		2.28	[2.22-2.34]	Affymetrix, Illumina [up to 9739303] (imputed)	N
614	chr6_mcf_hap5	3807463	3807464	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.44	2E-145	(East Asian)	1.9	[1.81-1.99]	Affymetrix, Illumina [up to 9739303] (imputed)	N
614	chr6_mcf_hap5	3808334	3808335	rs9268853	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	MHC	rs9268853-T	0.64	3E-6		1.37	[1.20-1.56]	Illumina [581060]	N
614	chr6_mcf_hap5	3808334	3808335	rs9268853	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	BTLN2, HLA-DRA, HLA-DRB5, HLA-DRB1	rs9268853-C	NR	2E-10	(FL)	1.56	[NR]	Affymetrix [530583]	N
614	chr6_mcf_hap5	3808334	3808335	rs9268853	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9268853-T	0.66	1E-55		1.4	[1.34-1.47]	Affymetrix, Illumina [~ 1100000] (imputed)	N
614	chr6_mcf_hap5	3808410	3808411	rs9268856	24943344	Ferrari R	2014-07-01	Lancet Neurol	Frontotemporal dementia and its subtypes: a genome-wide association study.	Frontotemporal dementia	1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls	690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2	rs9268856-C	0.748	6E-9	(All Frontotemporal dementia)	1.24	[1.16-1.32]	Illumina [6026385] (imputed)	N
614	chr6_mcf_hap5	3809835	3809836	rs9268877	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	6p21.32	MHC	rs9268877-?	NR	4E-23				Affymetrix [NR]	N
614	chr6_mcf_hap5	3809835	3809836	rs9268877	18836448	Franke A	2008-10-05	Nat Genet	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.	Ulcerative colitis	1,167 European ancestry cases, 777 European ancestry controls	1,855 European ancestry cases, 3,091 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268877-T	0.45	6E-18		1.45	[1.33-1.58]	Affymetrix [355262]	N
614	chr6_mcf_hap5	3810768	3810769	rs9268905	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	6p21.32	HLA-DRA	rs9268905-C	0.32	1E-7				Illumina [~ 2609000] (imputed)	N
614	chr6_mcf_hap5	3811526	3811527	rs9268923	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	6p21.32	HLA-DRA	rs9268923-C	0.67	4E-15		1.45	[1.33-1.59]	Affymetrix [1897764] (imputed)	N
614	chr6_mcf_hap5	3811859	3811860	rs2395185	25186300	Terao C	2014-09-03	Arthritis Rheumatol	An association between anti-nuclear antibody and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study.	Antinuclear antibody levels	3,185 Japanese ancestry individuals	3,963 Japanese ancestry individuals	6p21.32	HLA-DRA, HLA-DRB5	rs2395185-?	NR	1E-11		0.25	unit increase	Illumina [303506]	N
614	chr6_mcf_hap5	3811859	3811860	rs2395185	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	6p21.32	HLA class II	rs2395185-T	0.35	1E-8		1.17	[1.11-1.23]	Illumina [596032]	N
614	chr6_mcf_hap5	3811859	3811860	rs2395185	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.32	HLA-DRA	rs2395185-?	NR	4E-31	(Total cHL)	1.82	[1.67-2.00]	Illumina [502514]	N
614	chr6_mcf_hap5	3811859	3811860	rs2395185	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	6p21.32	C6orf10, BTNL2, HLA	rs2395185-G	NR	9E-23		1.49	[NR]	Illumina [266047]	N
614	chr6_mcf_hap5	3811859	3811860	rs2395185	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	intergenic	rs2395185-G	0.61	5E-22		1.92	[1.68-2.19]	Illumina [513923]	N
614	chr6_mcf_hap5	3811859	3811860	rs2395185	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, BTNL2, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs2395185-?	0.67	1E-16		1.52		Illumina [280748]	N
614	chr6_mcf_hap5	3822867	3822868	rs12194148	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs12194148-?	NR	5E-58	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
614	chr6_mcf_hap5	3823219	3823220	rs12195582	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	6p21.32	HLA	rs12195582-T	0.465	5E-100		1.78	[1.69-1.88]	Illumina [up to 21554489]	N
614	chr6_mcf_hap5	3825385	3825386	rs7453498	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	6p21.32	intergenic	rs7453498-C	0.8656	3E-6	(Complete)	0.8142	[0.47-1.16] unit increase	Affymetrix, Illumina [NR] (imputed)	N
614	chr6_mcf_hap5	3864905	3864906	rs2157337	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs2157337-?	NR	9E-52	(ACPA-positive RA vs ACPA-negative RA)			Illumina [1723056] (imputed)	N
614	chr6_mcf_hap5	3882710	3882711	rs3828840	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3828840-?	NR	5E-15	(OCB positive vs. controls)	1.94	[1.64-2.29]	Illumina [495970]	N
614	chr6_mcf_hap5	3929938	3929939	rs3129763	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3129763-?	0.25	1E-11	(ATA positive)	1.65	[1.42-1.91]	Illumina [NR] (imputed)	N
614	chr6_mcf_hap5	3929966	3929967	rs9271588	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1, c6orf10, BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB6	rs9271588-T	0.532	9E-37		1.75	[1.59-1.89]	Affymetrix [556134]	N
614	chr6_mcf_hap5	3931198	3931199	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DRB1	rs9271640-A	NR	5E-12		1.56	[1.38-1.77]	NR [485522]	N
614	chr6_mcf_hap5	3931198	3931199	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
614	chr6_mcf_hap5	3931198	3931199	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
614	chr6_mcf_hap5	3931198	3931199	rs9271640	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA1	rs9271640-?	NR	2E-20	(OCB positive vs. controls)	2.37	[1.97-2.84]	Illumina [495970]	N
614	chr6_mcf_hap5	3931609	3931610	rs28421666	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.32	HLA-DQ, HLA-DR	rs28421666-?	0.88	2E-18		1.49	[1.37-1.64]	Illumina [464328]	N
615	chr6_mcf_hap5	3934100	3934101	rs9271858	23291585	Fakiola M	2013-01-06	Nat Genet	Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.	Leishmaniasis (visceral)	989 Indian ancestry cases, 1,089 Indian ancestry controls, 357 Brazilian ancestry cases, 1,613 Brazilian ancestry unaffected relatives	951 Indian ancestry cases, 990 Indian ancestry controls	6p21.32	HLA, HLA-DRB1, HLA-DQA1	rs9271858-G	0.39	3E-17		1.41	[1.30-1.52]	Illumina [521134]	N
615	chr6_mcf_hap5	3938862	3938863	rs9272105	22807686	Li S	2012-07-12	PLoS Genet	GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.	Hepatocellular carcinoma	1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers	4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.45	5E-22		1.28	[1.22-1.35]	NR [523663]	N
615	chr6_mcf_hap5	3938862	3938863	rs9272105	21502966	Weber F	2011-04-19	Pharmacogenomics J	Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-&#x003b2; therapy in multiple sclerosis patients.	Response to interferon beta therapy	178 European ancestry antibody-positive individuals, 184 European ancestry antibody-negative individuals	350 European ancestry antibody-positive individuals, 468 European ancestry antibody-negative individuals	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.44	4E-10		0.26	[NR] unit increase	Illumina [~ 317000]	N
615	chr6_mcf_hap5	3939665	3939666	rs9272143	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9272143-?	NR	3E-22		1.49	[1.37-1.61]	Illumina [632668]	N
615	chr6_mcf_hap5	3941131	3941132	rs9272219	19571809	Shi J	2009-07-01	Nature	Common variants on chromosome 6p22.1 are associated with schizophrenia.	Schizophrenia	2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls	5,327 European ancestry cases, 16,424 European ancestry controls	6p21.32	HLA-DQA1	rs9272219-G	0.72	7E-8	(EA)	1.14	[NR]	Affymetrix [up to 843798]	N
615	chr6_mcf_hap5	3941869	3941870	rs2040406	20453840	Sanna S	2010-05-09	Nat Genet	Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.	Multiple sclerosis	882 Sardinian cases, 872 Sardinian controls	1,775 Sardinian cases, 2,005 Sardinian controls	6p21.32	HLA-DQB1, HLA-DRB	rs2040406-G	0.26	1E-20		2.05	[NR]	Affymetrix [6607266] (imputed)	N
615	chr6_mcf_hap5	3943237	3943238	rs9272346	23181788	Lasky-Su J	2012-12-04	Clin Exp Allergy	HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.	Asthma	Up to 1,238 European ancestry cases, up to 2,617 European ancestry controls	Up to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents	6p21.32	HLA-DQA1	rs9272346-?	NR	2E-8	(Adult)			Affymetrix [455089]	N
615	chr6_mcf_hap5	3943237	3943238	rs9272346	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	6p21.32	HLA	rs9272346-G	NR	6E-129				Affymetrix [up to 335565]	N
615	chr6_mcf_hap5	3943237	3943238	rs9272346	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	6p21.32	MHC	rs9272346-G	0.61	5E-134		5.49	[4.83-6.24]	Affymetrix [469557]	N
615	chr6_mcf_hap5	3944753	3944754	rs2187668	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	NR	1E-9				Affymetrix [up to 700598]	N
615	chr6_mcf_hap5	3944753	3944754	rs2187668	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-T	0.107	4E-10		2.93	[2.18-3.95]	Affymetrix [906600]	N
615	chr6_mcf_hap5	3944753	3944754	rs2187668	24768677	de Boer YS	2014-04-23	Gastroenterology	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	Autoimmune hepatitis type-1	649 European ancestry cases, 13,436 European ancestry controls	451 European ancestry cases, 4,103 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	0.15	2E-78		2.9	[2.60-3.40]	Illumina [254006]	N
615	chr6_mcf_hap5	3944753	3944754	rs2187668	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DR3	rs2187668-A	0.12	6E-28	(anti-dsDNA +)	2.23	[1.94-2.57]	Illumina [421318] (imputed)	N
615	chr6_mcf_hap5	3944753	3944754	rs2187668	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	HLA-DQA1	rs2187668-A	0.1297	8E-93		4.32	[NR]	Illumina [242824]	N
615	chr6_mcf_hap5	3944753	3944754	rs2187668	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs2187668-A	0.13	2E-33		2.53	[2.17-2.95]	Illumina [2057134] (imputed)	N
615	chr6_mcf_hap5	3944753	3944754	rs2187668	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs2187668-A	0.26	1E-50		6.23	[5.95-6.52]	Illumina [292387]	N
615	chr6_mcf_hap5	3944753	3944754	rs2187668	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.11	3E-21				Illumina [502033]	N
615	chr6_mcf_hap5	3944753	3944754	rs2187668	17558408	van Heel DA	2007-06-10	Nat Genet	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.	Celiac disease	778 European ancestry cases, 1,422 European ancestry controls	991 European ancestry cases, 1,489 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.14	1E-19		7.04	[6.08-8.15]	Illumina [310605]	N
615	chr6_mcf_hap5	3945602	3945603	rs9272535	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DQA1	rs9272535-A	0.27	9E-8		1.61	[1.35-1.92]	Affymetrix [827777]	N
615	chr6_mcf_hap5	3960029	3960030	rs9273349	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	6p21.32	HLA-DQ	rs9273349-C	0.58	7E-14		1.18	[1.13-1.24]	Illumina [582892]	N
615	chr6_mcf_hap5	3960290	3960291	rs7744020	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs7744020-A	0.272	8E-9		1.9	year decrease	Affymetrix [603382]	N
615	chr6_mcf_hap5	3960432	3960433	rs9273363	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	6p21.32	HLA	rs9273363-A	0.27	2E-10		1.24	[NR]	Illumina [549934]	N
615	chr6_mcf_hap5	3960471	3960472	rs6906021	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.45	2E-12		1.15	[1.11-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
615	chr6_mcf_hap5	3960471	3960472	rs6906021	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.4749	7E-15		0.0945	[0.071-0.118] unit increase	Illumina [2400000] (imputed)	N
615	chr6_mcf_hap5	3960759	3960760	rs9273373	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	6p21.32	HLA-DQB1	rs9273373-G	0.54	4E-14		1.24	[1.17-1.30]	Illumina [up to 4972397] (imputed)	N
615	chr6_mcf_hap5	3961888	3961889	rs1063355	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DQA1	rs1063355-A	NR	2E-6		1.43	[1.23-1.66]	Illumina [480391]	N
615	chr6_mcf_hap5	3962603	3962604	rs2854275	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	PSORS1C1, BAT2, EHMT2, HLA-DQB1, C6orf15, BAT4, NOTCH4, PRRT1, HLA-B	rs2854275-T	0.064	2E-10	(Conditional on rs477515 - Quantitative)	0.45	[NR] unit decrease	Illumina [944565]	N
615	chr6_mcf_hap5	3967117	3967118	rs9274407	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA		HLA-DRB1-DQB1	rs9274407-?	NR	5E-14		3.1	[2.30-4.20]	Illumina [822927]	N
615	chr6_mcf_hap5	3968020	3968021	rs9274477	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA		NR	rs9274477-G	0.292	2E-8		1.82	year decrease	Affymetrix [603382]	N
615	chr6_mcf_hap5	3970304	3970305	rs9274623	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs9274623-G	NR	6E-19		1.1363636	[NR]	Illumina [7158791] (imputed)	N
615	chr6_mcf_hap5	3981211	3981212	rs17212223	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs17212223-T	0.191	3E-8		1.95	year decrease	Affymetrix [603382]	N
615	chr6_mcf_hap5	3984900	3984901	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
615	chr6_mcf_hap5	3984900	3984901	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
615	chr6_mcf_hap5	3993828	3993829	rs3129716	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQB1	rs3129716-?	NR	4E-9				Affymetrix [up to 700598]	N
615	chr6_mcf_hap5	3993971	3993972	rs7774434	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	6p21.32	MHC	rs7774434-C	0.38	4E-34		1.6	[1.48-1.73]	Illumina [507467]	N
615	chr6_mcf_hap5	3993971	3993972	rs7774434	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	6p21.32	HLA-DQB1	rs7774434-C	0.371	3E-26		1.75	[NR]	Illumina [276459]	N
615	chr6_mcf_hap5	3994473	3994474	rs7775228	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	6p21.32	HLA region	rs7775228-C	0.13	2E-9		1.33	[1.21-1.45]	Affymetrix, Illumina [2217510] (imputed)	N
615	chr6_mcf_hap5	3994473	3994474	rs7775228	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQB1	rs7775228-A	0.63	5E-15		1.17	[1.12-1.21]	Illumina [458847]	N
615	chr6_mcf_hap5	3994704	3994705	rs9469220	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQB1	rs9469220-G	NR	2E-7		0.09	[0.05-0.12] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
615	chr6_mcf_hap5	3994704	3994705	rs9469220	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	6p21.32	NR	rs9469220-A	0.48	2E-6		1.14	[0.98-1.32]	Affymetrix [469557]	N
615	chr6_mcf_hap5	3996255	3996256	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.59	8E-14	(East Asian)	1.38		Illumina [> 1000000] (imputed)	N
615	chr6_mcf_hap5	3996255	3996256	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-30		1.36	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_mcf_hap5	3996255	3996256	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-18	(EA)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_mcf_hap5	4000708	4000709	rs3129720	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQB1	rs3129720-?	NR	5E-15	(OCB positive vs. controls)	1.91	[1.62-2.24]	Illumina [495970]	N
615	chr6_mcf_hap5	4000708	4000709	rs3129720	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQB1, HLA-DRB9, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs3129720-C	0.764	5E-7		1.16	(1.10-1.23)	Illumina [870065]	N
615	chr6_mcf_hap5	4000929	4000930	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
615	chr6_mcf_hap5	4000929	4000930	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1	rs6457617-A	NR	7E-17		0.127	[NR] unit decrease	NR [485236]	N
615	chr6_mcf_hap5	4000929	4000930	rs6457617	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DRB1, DQA1, DQB1	rs6457617-T	0.45	7E-33		1.4	[1.32-1.48]	Illumina [486049]	N
615	chr6_mcf_hap5	4000929	4000930	rs6457617	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.32	HLA, DQB1	rs6457617-T	0.50	2E-37		1.61	[1.49-1.72]	Illumina [489814]	N
615	chr6_mcf_hap5	4000929	4000930	rs6457617	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	6p21.32	HLA-DQB1	rs6457617-?	0.53	4E-17		1.37	[1.28-1.47]	Illumina [279621]	N
615	chr6_mcf_hap5	4000929	4000930	rs6457617	18668548	Julia A	2008-08-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.	Rheumatoid arthritis	400 European ancestry cases, 400 European ancestry controls	410 European ancestry cases, 394 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQA1	rs6457617-?	NR	1E-9				Illumina [299918]	N
615	chr6_mcf_hap5	4000929	4000930	rs6457617	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	MHC	rs6457617-T	0.49	5E-75		2.36	[1.97-2.84]	Affymetrix [469557]	N
615	chr6_mcf_hap5	4001077	4001078	rs6457620	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.32	HLA locus	rs6457620-C	0.51	2E-16		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
615	chr6_mcf_hap5	4001077	4001078	rs6457620	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	6p21.32	HLA-DRB1	rs6457620-?	0.50	4E-186		2.55	[2.40-2.71]	Affymetrix, Illumina [at least 315971] (imputed)	N
615	chr6_mcf_hap5	4001536	4001537	rs2647012	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	intergenic	rs2647012-?	NR	3E-7	(Additive)	1.52	[1.3-1.75]	Affymetrix, Illumina [1621689] (imputed)	N
615	chr6_mcf_hap5	4001536	4001537	rs2647012	21533074	Smedby KE	2011-04-21	PLoS Genet	GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma.	Follicular lymphoma	379 European ancestry cases, 791 European ancestry controls	1,049 European ancestry cases, 3,952 European ancestry controls	6p21.32	HLA-DQB1	rs2647012-G	0.56	2E-21		1.56	[1.43-1.72]	Illumina [298168]	N
615	chr6_mcf_hap5	4001536	4001537	rs2647012	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQA1	rs2647012-A	0.44	8E-6	(case-only)	1.38	[1.20-1.59]	Illumina [421318] (imputed)	N
615	chr6_mcf_hap5	4002038	4002039	rs9357152	21896673	Chen D	2011-09-10	Hum Mol Genet	Genome-wide association study of HPV seropositivity.	HPV seropositivity	1,286 European ancestry lung cancer cases, 679 European ancestry head and neck cancer cases, 811 European ancestry kidney cancer cases, 2,035 European ancestry controls	1,307 Hispanic head and neck cancer cases, 1,037 Hispanic controls	6p21.32	HLA-DQB1	rs9357152-G	0.33	1E-14				Illumina [316015]	N
615	chr6_mcf_hap5	4002038	4002039	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
615	chr6_mcf_hap5	4002038	4002039	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
615	chr6_mcf_hap5	4002498	4002499	rs10484561	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.32	HLA-DQB1	rs10484561-G	0.11	1E-29	(FL)	1.95	[1.72-2.22]	Illumina [312768]	N
615	chr6_mcf_hap5	4003374	4003375	rs9275319	23242368	Jiang DK	2012-12-16	Nat Genet	Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.	Hepatocellular carcinoma (hepatitis B virus related)	1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls	4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls	6p21.32	HLA-DQ	rs9275319-A	0.88	3E-17		1.49	[1.36-1.63]	Illumina [1672517] (imputed)	N
615	chr6_mcf_hap5	4003739	4003740	rs9275326	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	6p21.32	HLA-DQB	rs9275326-C	0.906	1E-12		1.21	[1.16-1.26]	Illumina [7893274] (imputed)	N
615	chr6_mcf_hap5	4004967	4004968	rs2647044	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.32	HLA-DQB1	rs2647044-G	NR	6E-6	(FEV1/FVC)	0.044	[0.024-0.064] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
615	chr6_mcf_hap5	4004967	4004968	rs2647044	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	6p21.32	HLA-DRB1	rs2647044-A	0.13	1E-16		8.3	[6.97-9.89]	Illumina [543071]	N
615	chr6_mcf_hap5	4005158	4005159	rs2647045	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647045-?	NR	4E-10	(FL)	1.69	[NR]	Affymetrix [530583]	N
615	chr6_mcf_hap5	4005394	4005395	rs2647046	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647046-?	NR	2E-6	(NHL)	1.25	[1.14-1.37]	Affymetrix [530583]	N
615	chr6_mcf_hap5	4006214	4006215	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.75	1E-7	(ATA positive)	1.61	[1.35-1.92]	Illumina [NR] (imputed)	N
615	chr6_mcf_hap5	4006214	4006215	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.25	3E-54	(ACA positive)	2.38	[2.13-2.67]	Illumina [NR] (imputed)	N
615	chr6_mcf_hap5	4006430	4006431	rs11752643	21971053	Takeuchi F	2011-10-05	Eur J Hum Genet	Genome-wide association study of coronary artery disease in the Japanese.	Coronary heart disease	806 Japanese ancestry cases, 1,337 Japanese ancestry controls	3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls	6p21.32	HLA, DRB-DQB	rs11752643-T	0.06	5E-7		1.26	[1.15-1.38]	Illumina [451382]	N
615	chr6_mcf_hap5	4006824	4006825	rs2647050	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	HLA-DQB1	rs2647050-T	NR	1E-6	(Perc15, All)	1.6	[0.66-2.54] unit increase	Illumina [7600000] (imputed)	N
615	chr6_mcf_hap5	4007012	4007013	rs9275406	23918589	Negi S	2013-12-01	Arthritis Rheum	A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians.	Rheumatoid arthritis	706 North Indian ancestry cases, 761 North Indian ancestry controls	927 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1, C6orf10, HLA-DQA1	rs9275406-T	0.17	3E-12		2.1	[1.72-2.68]	Illumina [559348]	N
615	chr6_mcf_hap5	4007304	4007305	rs2856718	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB1	rs2856718-C	0.55	7E-28		1.28	[1.22-1.33]	Illumina [3680900] (imputed)	N
615	chr6_mcf_hap5	4007304	4007305	rs2856718	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs2856718-?	NR	2E-24		1.6	[1.46-1.75]	Illumina [719265]	N
615	chr6_mcf_hap5	4007304	4007305	rs2856718	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DQB1	rs2856718-A	0.48	4E-37		1.56	[1.45-1.67]	Illumina [423627]	N
615	chr6_mcf_hap5	4007357	4007358	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.77	5E-10	(East Asian)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_mcf_hap5	4007357	4007358	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	5E-8	(EA)	1.21	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_mcf_hap5	4007357	4007358	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	1E-15		1.27	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_mcf_hap5	4008152	4008153	rs13192471	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	6p21.32	HLA-DRB1	rs13192471-G	0.22	2E-58		1.97	[1.82-2.14]	Illumina [393217]	N
615	chr6_mcf_hap5	4008297	4008298	rs1794275	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DQA/B	rs1794275-A	0.15	3E-13		1.3	[1.21-1.39]	Illumina [444882]	N
615	chr6_mcf_hap5	4011783	4011784	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945894807901907	8E-6	(IGP1)	0.3014	[0.17-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
615	chr6_mcf_hap5	4011783	4011784	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945736455079007	1E-6	(IGP19)	0.3272	[0.2-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
615	chr6_mcf_hap5	4011783	4011784	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945425811930783	3E-7	(IGP41)	0.3448	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
615	chr6_mcf_hap5	4012154	4012155	rs9275524	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	intergenic	rs9275524-T		2E-7	(Modelling analysis)	1.07	[1.04-1.09]	NR [1252901] (imputed)	N
615	chr6_mcf_hap5	4012515	4012516	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	7E-14	(ACPA+ cases vs. all controls)	3.015	[NR]	Affymetrix [3441843] (imputed)	N
615	chr6_mcf_hap5	4012515	4012516	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	3E-12	(all cases vs. all controls)	2.608	[NR]	Affymetrix [3441843] (imputed)	N
615	chr6_mcf_hap5	4012515	4012516	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	2E-13	(ACPA- cases vs. all controls)	2.869	[NR]	Affymetrix [3441843] (imputed)	N
615	chr6_mcf_hap5	4014436	4014437	rs9275563	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275563-?	NR	6E-11	(OCB positive vs. controls)	1.75	[1.47-2.04]	Illumina [495970]	N
615	chr6_mcf_hap5	4015128	4015129	rs4273729	23420232	Duggal P	2013-02-19	Ann Intern Med	Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.	Chronic hepatitis C infection	1,482 chronic HCV cases, 919 spontaneously cleared HCV cases	461 chronic HCV cases, 284 spontaneously cleared HCV cases	6p21.32	HLA	rs4273729	NR	5E-17		1.59		Illumina [792721] (imputed)	N
615	chr6_mcf_hap5	4015538	4015539	rs9275572	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-A	0.4	5E-16		1.74	[1.64-1.85]	Illumina [NR]	N
615	chr6_mcf_hap5	4015538	4015539	rs9275572	24376798	Miki D	2013-12-20	PLoS One	HLA-DQB1*03 confers susceptibility to chronic hepatitis C in Japanese: a genome-wide association study.	Chronic hepatitis C infection	481 Japanese ancestry cases, 2,963 Japanese ancestry controls	5,737 Japanese ancestry cases, 26,931 Japanese ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs9275572-T	0.359	4E-16		1.27	[1.19-1.33]	Illumina [458207]	N
615	chr6_mcf_hap5	4015538	4015539	rs9275572	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.32	HLA-DQ, HLA-DR	rs9275572-A	0.36	6E-9		1.3	[1.19-1.42]	Illumina [432703]	N
615	chr6_mcf_hap5	4015538	4015539	rs9275572	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-G	0.59	1E-35		2.21	[1.98-2.47]	Illumina [463301]	N
615	chr6_mcf_hap5	4017117	4017118	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Pack-years)	1.0E-4	[-0.00014-0.00025] unit decrease	NR [~ 2500000] (imputed)	N
615	chr6_mcf_hap5	4017117	4017118	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Ever-smoking)	0.001	[-0.04016-0.04216] unit decrease	NR [~ 2500000] (imputed)	N
615	chr6_mcf_hap5	4017469	4017470	rs7765379	25383971	Dunstan SJ	2014-11-10	Nat Genet	Variation at HLA-DRB1 is associated with resistance to enteric fever.	Enteric fever	432 Vietnamese ancestry cases, 2,011 Vietnamese ancestry controls	151 Vietnamese ancestry cases,  668 Vietnamese ancestry controls, 595 Nepalese ancestry cases, 386 Nepalese ancestry controls	6p21.32	HLA-DRB1, HLA-DQB1	rs7765379-A	0.945	2E-13		4.55	[2.94-6.67]	Illumina [709725]	N
615	chr6_mcf_hap5	4017469	4017470	rs7765379	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	HLA-DQA2, HLA-DOB, HLA-DQB1, PSMB9, HLA-DRB1, HLA-DQA1	rs7765379-G	NR	9E-59		1.93	[1.78-2.09]	Illumina [4929034] (imputed)	N
615	chr6_mcf_hap5	4017469	4017470	rs7765379	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	6p21.32	HLA-DRB1	rs7765379-?		5E-23		2.51	[NR]	Illumina [441398]	N
615	chr6_mcf_hap5	4017818	4017819	rs2858331	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQA2	rs2858331-G	NR	6E-6				Affymetrix, Illumina [NR] (imputed)	N
615	chr6_mcf_hap5	4017818	4017819	rs2858331	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p21.32	HLA-DQA2	rs2858331-G	NR	1E-8		0.04	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
615	chr6_mcf_hap5	4017896	4017897	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.763	6E-6		0.016	[0.0089-0.0227] kg/m2 increase	Affymetrix, Illumina [2550021]	N
615	chr6_mcf_hap5	4017896	4017897	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.76	9E-6	(EA)	0.016	[0.009-0.0232] kg/m2 increase	Affymetrix, Illumina [2550021]	N
615	chr6_mcf_hap5	4018172	4018173	rs9275596	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Peanut allergy	316 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 589 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	62 European ancestry child cases, 69 European ancestry child controls, 24 child cases, 58 child controls	6p21.32	HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DQA2	rs9275596-C	0.35	6E-11	(EA)	1.7	[1.40-2.10]	Illumina [6459842] (imputed)	N
615	chr6_mcf_hap5	4018172	4018173	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.8	1E-19	(East Asian)	1.69	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_mcf_hap5	4018172	4018173	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	3E-31		1.44	[NR]	Illumina [> 1000000] (imputed)	N
615	chr6_mcf_hap5	4018172	4018173	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	2E-15	(EA)	1.35		Illumina [> 1000000] (imputed)	N
615	chr6_mcf_hap5	4018172	4018173	rs9275596	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1, HLA-DQA1	rs9275596-?	0.73 (EA)	2E-26		1.59	[NR]	Illumina [498322]	N
615	chr6_mcf_hap5	4018210	4018211	rs6935723	25217962	Heap GA	2014-09-14	Nat Genet	HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.	Response to thiopurine immunosuppressants in inflammatory bowel disease (pancreatitis) (azathioprine and mercaptopurine)	172 European ancestry cases, 2,035 European ancestry controls	78 European ancestry cases, 472 controls	6p21.32	HLA region	rs6935723-C	0.27	1E-21		2.46	[2.04-2.98]	Affymetrix, Illumina [2819700] (imputed)	N
615	chr6_mcf_hap5	4018217	4018218	rs3104402	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs3104402-A	NR	6E-6		0.165	[0.094-0.236] unit decrease	Affymetrix [736996]	N
615	chr6_mcf_hap5	4018678	4018679	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
615	chr6_mcf_hap5	4018678	4018679	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
615	chr6_mcf_hap5	4022091	4022092	rs3916765	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p21.32	HLA-DQA2	rs3916765-A	0.12	1E-6	(Lean)	1.21	[1.12-1.31]	NR [NR]	N
615	chr6_mcf_hap5	4024808	4024809	rs9275698	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQA2	rs9275698-T	0.79	5E-12		1.18	[1.12-1.24]	Illumina [458847]	N
615	chr6_mcf_hap5	4034973	4034974	rs2859113	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs2859113-C	0.378328302013423	6E-8	(IGP59)	0.1817	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
615	chr6_mcf_hap5	4037279	4037280	rs2858884	20711174	Hor H	2010-08-15	Nat Genet	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	Narcolepsy	562 European ancestry cases, 702 European ancestry controls	370 cases, 495 controls	6p21.32	HLA-DQA2	rs2858884-A	0.81	3E-8		1.79	[1.45-2.17]	Affymetrix [392949]	N
615	chr6_mcf_hap5	4044475	4044476	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQA2	rs9276370-T	0.076	2E-12		1.95	[1.62-2.34]	Illumina [456262]	N
615	chr6_mcf_hap5	4044475	4044476	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_mcf_hap5	4061099	4061100	rs7756516	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_mcf_hap5	4062377	4062378	rs2301271	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2	rs2301271-T	0.40	2E-12	(anti-dsDNA -)	1.47	[1.32-1.63]	Illumina [421318] (imputed)	N
616	chr6_mcf_hap5	4063989	4063990	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.346381764494382	2E-8	(IGP42)	0.1909	[0.12-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_mcf_hap5	4063989	4063990	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.34601888034188	4E-8	(IGP2)	0.1853	[0.12-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_mcf_hap5	4067197	4067198	rs7453920	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-A	0.88	1E-60		2.0	[1.82-2.17]	Illumina [3680900] (imputed)	N
616	chr6_mcf_hap5	4067197	4067198	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.051	7E-15		2.31	[1.87-2.85]	Illumina [456262]	N
616	chr6_mcf_hap5	4067197	4067198	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
616	chr6_mcf_hap5	4067197	4067198	rs7453920	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.87	5E-37		1.8868	[1.69-2.08]	Illumina [490610]	N
616	chr6_mcf_hap5	4067197	4067198	rs7453920	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs7453920-?	NR	7E-26		2.0	[1.72-2.27]	Illumina [719265]	N
616	chr6_mcf_hap5	4067197	4067198	rs7453920	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2	rs7453920-?	NR	5E-6	(LYM)	1.19	[1.11-1.3]	Affymetrix [530583]	N
616	chr6_mcf_hap5	4067197	4067198	rs7453920	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HAL-DQB2	rs7453920-G	0.83	6E-28		1.81	[1.62-2.01]	Illumina [423627]	N
616	chr6_mcf_hap5	4067271	4067272	rs2051549	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	6p21.32	HLA-DQA2	rs2051549-?	NR	3E-22				Illumina [737984]	N
616	chr6_mcf_hap5	4073871	4073872	rs9276606	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs9276606-T	0.15	3E-22	(Serum level of C4)	0.09	[0.070-0.110] g/L decrease	Illumina [1940245] (imputed)	N
616	chr6_mcf_hap5	4079047	4079048	rs2621416	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2, TAP2	rs2621416-G	NR	2E-9	(FL)	1.57	[NR]	Affymetrix [530583]	N
616	chr6_mcf_hap5	4100409	4100410	rs2857151	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	6p21.32	HLA-DOB, HLA-DQB2	rs2857151-G	0.76	5E-11		1.47	[1.23-1.77]	Illumina [463793]	N
616	chr6_mcf_hap5	4119986	4119987	rs7383287	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs7383287-A	NR	1E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
616	chr6_mcf_hap5	4123931	4123932	rs1894407	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6p21.32	NR	rs1894407-C		1E-7		1.17	[1.11-1.24]	Affymetrix, Illumina [up to 3437411] (imputed)	N
616	chr6_mcf_hap5	4134660	4134661	rs2228391	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA	rs2228391-C	0.108	4E-7	(trend)	3.32	[2.02-5.46] (allelic)	Affymetrix [522980]	N
616	chr6_mcf_hap5	4134763	4134764	rs241436	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p21.32	TAP2	rs241436-G	0.49	8E-6	(men)	0.089	[0.05-0.128] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
616	chr6_mcf_hap5	4135618	4135619	rs1015166	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	TAP2	rs1015166-T	NR	4E-22		2.1428		Illumina [514008]	N
616	chr6_mcf_hap5	4140947	4140948	rs241428	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs241428-G	0.08	9E-83	(Serum level of C4)	0.23	[0.21-0.25] g/L increase	Illumina [1940245] (imputed)	N
616	chr6_mcf_hap5	4146724	4146725	rs9357155	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	TAP2, TAP1, PSMB8, PSMB9	rs9357155-?	0.87 (EA)	2E-12		1.41	[NR]	Illumina [498322]	N
616	chr6_mcf_hap5	4148505	4148506	rs2071543	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	PSMB9, TAP1, TAP2, PSMB8	rs2071543-G	0.80	2E-9	(East Asian)	1.41	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_mcf_hap5	4189481	4189482	rs2187689	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	PSMB9	rs2187689-C	0.08	3E-8		0.23	[0.15-0.31] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_mcf_hap5	4191527	4191528	rs10046257	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10046257-A	0.10	3E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_mcf_hap5	4192547	4192548	rs6457690	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6457690-A	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_mcf_hap5	4193216	4193217	rs1029296	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029296-C	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_mcf_hap5	4193317	4193318	rs1029295	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029295-C	0.10	5E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_mcf_hap5	4193769	4193770	rs6936004	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6936004-C	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_mcf_hap5	4194252	4194253	rs10214886	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10214886-A	0.10	2E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mcf_hap5	4196545	4196546	rs7744666	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs7744666-C	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mcf_hap5	4196581	4196582	rs11969002	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs11969002-A	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mcf_hap5	4197585	4197586	rs9469300	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs9469300-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mcf_hap5	4199440	4199441	rs3749982	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs3749982-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mcf_hap5	4250098	4250099	rs1480380	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	NR	rs1480380-C	0.908	6E-7	(Modelling analysis)			NR [1252901] (imputed)	N
617	chr6_mcf_hap5	4250098	4250099	rs1480380	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs1480380-T	0.0877	4E-39		3.05	[NR]	Illumina [242824]	N
617	chr6_mcf_hap5	4251578	4251579	rs73396800	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs73396800-G	NR	4E-16		1.1904762	[NR]	Illumina [7158791] (imputed)	N
617	chr6_mcf_hap5	4252703	4252704	rs16871226	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs16871226-G	0.0244821228239845	2E-6	(IGP67)	0.5182	[0.3-0.73] unit increase	Illumina [~ 2500000] (imputed)	N
617	chr6_mcf_hap5	4309266	4309267	rs3128935	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	6p21.32	HLA-DOA	rs3128935-T	0.97	9E-6	(Age 20-60 years)	2.28	[1.59-3.28]	Affymetrix, Illumina [up to 17585496] (imputed)	N
617	chr6_mcf_hap5	4310461	4310462	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	White wine liking	381 Carlantino individuals, 744 Friuli Venezia Giulia individuals, 1,115 Val Borbera individuals	1,261 Erasmus Rucphen Family individuals, 335 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	2E-8		0.0539	[NR] unit increase	Illumina [9969492] (imputed)	N
617	chr6_mcf_hap5	4310461	4310462	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	Red wine liking	398 Carlantino individuals, 751 Friuli Venezia Giulia individuals, 1,122 Val Borbera individuals	1,246 Erasmus Rucphen Family individuals, 353 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	8E-6		0.0419	[NR] unit increase	Illumina [6967159] (imputed)	N
617	chr6_mcf_hap5	4311796	4311797	rs378352	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DOA	rs378352-T	0.39	1E-23		1.26	[1.20-1.31]	Illumina [3680900] (imputed)	N
617	chr6_mcf_hap5	4311876	4311877	rs399604	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.32	HLA-DOA	rs399604-C	NR	1E-10		2.346	[1.63-3.06] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
618	chr6_mcf_hap5	4369894	4369895	rs3077	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPA1	rs3077-A	0.66	1E-53		1.45	[1.39-1.52]	Illumina [3680900] (imputed)	N
618	chr6_mcf_hap5	4369894	4369895	rs3077	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs3077-?	NR	5E-39		1.89	[1.69-2.08]	Illumina [719265]	N
618	chr6_mcf_hap5	4369894	4369895	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	4E-45	(Protective effects against CHB)	1.82	[1.67-1.96]	Affymetrix [597789]	N
618	chr6_mcf_hap5	4369894	4369895	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	1E-9	(Clearance of HBV)	1.67	[1.43-2.0]	Affymetrix [597789]	N
618	chr6_mcf_hap5	4369894	4369895	rs3077	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPA1	rs3077-G	0.60	2E-61		1.87	[1.73-2.01]	Illumina [423627]	N
618	chr6_mcf_hap5	4379734	4379735	rs987870	21814517	Noguchi E	2011-07-21	PLoS Genet	Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.	Asthma	938 Japanese ancestry cases, 2,376 Japanese ancestry controls	1653 East Asian ancestry cases, 1453 East Asian ancestry controls	6p21.32	HLA, DPB1	rs987870-C	0.14	2E-10		1.4	[1.26-1.55]	Illumina [450326]	N
618	chr6_mcf_hap5	4379734	4379735	rs987870	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1	rs987870-?	0.15	2E-20	(ATA positive)	2.09	[1.78-2.45]	Illumina [NR] (imputed)	N
618	chr6_mcf_hap5	4385521	4385522	rs1042151	23180272	Park BL	2012-11-21	Hum Genet	Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.	Aspirin exacerbated respiratory disease in asthmatics	117 Korean ancestry cases, 685 Korean ancestry controls	142 Korean ancestry cases, 996 Korean ancestry controls	6p21.32	HLA-DPB1	rs1042151-G	0.083	5E-7		2.4	[1.68-3.42]	Illumina [430486]	N
618	chr6_mcf_hap5	4391705	4391706	rs9277535	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-A	0.58	1E-70		1.52	[1.45-1.59]	Illumina [3680900] (imputed)	N
618	chr6_mcf_hap5	4391705	4391706	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.251	5E-14		1.59	[1.41-1.79]	Illumina [456262]	N
618	chr6_mcf_hap5	4391705	4391706	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
618	chr6_mcf_hap5	4391705	4391706	rs9277535	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs9277535-?	NR	4E-40		1.89	[1.72-2.08]	Illumina [719265]	N
618	chr6_mcf_hap5	4391705	4391706	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-21	(Protective effects against CHB)	1.64	[1.47-1.82]	Affymetrix [597789]	N
618	chr6_mcf_hap5	4391705	4391706	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-17	(Clearance of HBV)	1.52	[1.37-1.67]	Affymetrix [597789]	N
618	chr6_mcf_hap5	4391705	4391706	rs9277535	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DPB1	rs9277535-?	NR	3E-12		1.39	[1.23-1.59]	Illumina [455508]	N
618	chr6_mcf_hap5	4391705	4391706	rs9277535	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.57	3E-54		1.77	[1.65-1.91]	Illumina [423627]	N
618	chr6_mcf_hap5	4391705	4391706	rs9277535	19349983	Kamatani Y	2009-04-06	Nat Genet	A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.	Hepatitis B	179 Japanese ancestry cases, 934 Japanese ancestry controls	1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls	6p21.32	HLA-DPB1	rs9277535-G		6E-39		1.75	[1.61-1.92]	Illumina [499544]	N
618	chr6_mcf_hap5	4392382	4392383	rs9277554	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	6p21.32	HLA-DOA, HSD17B8, RING1, COL11A2, RXRB, HLA-DPB1*04, HLA-DPB1, HLA-DPB2	rs9277554-C	0.708	2E-50		4.17	[3.33-5.00]	Illumina [287802]	N
618	chr6_mcf_hap5	4392449	4392450	rs9277555	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	6p21.32	NR	rs9277555-G		6E-7		0.0199	[0.010-0.030] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
618	chr6_mcf_hap5	4396962	4396963	rs2281388	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DPB1	rs2281388-T	0.32	2E-65		1.64	[1.55-1.74]	Illumina [486049]	N
618	chr6_mcf_hap5	4397666	4397667	rs6928954	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	6p21.32	intergenic	rs6928954-?	0.023	1E-6		0.075	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
618	chr6_mcf_hap5	4406737	4406738	rs3117242	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	6p21.32	HLA-DP, COL11A2	rs3117242-?	NR	1E-71		3.67	[NR]	Affymetrix [NR]	N
618	chr6_mcf_hap5	4408989	4408990	rs4282438	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	COL11A2, HLA-DPB1, HLA-DPA1	rs4282438-G	0.3546	9E-25		1.58	[1.45-1.72]	Affymetrix [556134]	N
618	chr6_mcf_hap5	4408989	4408990	rs4282438	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	HLA-DPB2	rs4282438-?	0.56	5E-27	(Stringently Matched)	1.35	[1.27-1.41]	Affymetrix [563339]	N
618	chr6_mcf_hap5	4419124	4419125	rs733208	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Thyroid peroxidase antibody positivity	377 Korean ancestry cases, 3,019 Korean ancestry anti-TPO controls	108 Korean ancestry cases, 734 Korean ancestry controls	6p21.32	HLA-DPB2	rs733208-A	0.30	4E-7		1.435	[1.30-1.57]	Affymetrix [1418709] (imputed)	N
620	chr6_mcf_hap5	4617712	4617713	rs2254287	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	6p21.32	B3GALT4	rs2254287-G	0.38	5E-8		1.91	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
620	chr6_mcf_hap5	4678015	4678016	rs9277952	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	intergenic	rs9277952-?	0.53	2E-9	(Matched)	1.18	[1.12-1.23]	Affymetrix [563339]	N
585	chr6_qbl_hap6	79517	79518	rs4324798	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p22.1	TRNAA-UGC	rs4324798-A	0.09	2E-8		1.16	[1.09-1.24]	Illumina [515922]	N
586	chr6_qbl_hap6	200314	200315	rs2015436	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	6p22.1	TRIM27	rs2015436-T	0.73	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
586	chr6_qbl_hap6	219651	219652	rs4947339	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	6p22.1	TRIM27	rs4947339-T	0.438	2E-6	(epinehprine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
587	chr6_qbl_hap6	387634	387635	rs3129109	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p22.1	OR2J3	rs3129109-T	0.39	2E-17		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
588	chr6_qbl_hap6	484162	484163	rs9257616	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	6p22.1	OR2J2, TRIM27, ZNF311, OR2W1, OR2B3, LOC651503, OR214J1, OR5V1, OR12D3, OR2J3	rs9257616-G	0.56	3E-7		0.093	[0.058-0.128] unit increase	Illumina [~ 2500000] (imputed)	N
590	chr6_qbl_hap6	690293	690294	rs16894878	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.1	OR12D1P, OR11A1	rs16894878-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
590	chr6_qbl_hap6	737698	737699	rs4713226	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6p22.1	OR2H1	rs4713226-A		2E-8	(AA)			Illumina [NR]	N
590	chr6_qbl_hap6	765015	765016	rs1233491	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	MAS1L	rs1233491-C	0.088	8E-10		2.2	[1.58-3.08]	Affymetrix [906600]	N
591	chr6_qbl_hap6	824193	824194	rs16895057	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	6p22.1	OR2I1P	rs16895057-T	0.95	3E-6		0.153	[0.088-0.218] unit increase	Affymetrix [1532051] (imputed)	N
591	chr6_qbl_hap6	829695	829696	rs11970475	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p22.1	UBD	rs11970475-A	0.19	2E-24		0.07	[0.054-0.086] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
591	chr6_qbl_hap6	910366	910367	rs3095267	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p22.1	intergenic	rs3095267-?	0.81	9E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
591	chr6_qbl_hap6	914742	914743	rs29232	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	GABBR1	rs29232-A	0.46	9E-17		1.67	[1.48-1.88]	Illumina [480365]	N
592	chr6_qbl_hap6	929638	929639	rs2252711	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.1	MOG	rs2252711-T	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
592	chr6_qbl_hap6	952860	952861	rs385492	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs385492-T	NR	1E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
592	chr6_qbl_hap6	967184	967185	rs3131888	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	6p22.1	NR	rs3131888-C	NR	7E-6		1.2820514	[NR]	Illumina [up to 9792010] (imputed)	N
592	chr6_qbl_hap6	973571	973572	rs3129055	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-F	rs3129055-G	0.31	7E-11		1.51	[1.34-1.71]	Illumina [480365]	N
592	chr6_qbl_hap6	1003379	1003380	rs2523395	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	6p22.1	LOC285830	rs2523395-?	NR	2E-6	(rs1512268)	1.24	[1.14-1.35]	Affymetrix, Illumina [1117531] (imputed)	N
592	chr6_qbl_hap6	1006520	1006521	rs2523393	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p22.1	HLA-B	rs2523393-A	0.59	1E-17		1.28	[1.18-1.39]	Affymetrix, Illumina [~ 2560000] (imputed)	N
592	chr6_qbl_hap6	1024011	1024012	rs9258260	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	6p22.1	UBD, HLA-A, HLA-G, HLA-F, MOG, GABBR1, HLA-H	rs9258260-T	0.104	2E-10		1.45	[1.21-1.68]	Affymetrix, Illumina [1060934] (imputed)	N
593	chr6_qbl_hap6	1129014	1129015	rs2523822	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA	6p22.1	HLA-A	rs2523822-?	NR	2E-10		2.3	[1.80-2.90]	Illumina [822927]	N
593	chr6_qbl_hap6	1144296	1144297	rs2523809	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-G	rs2523809-T	NR	4E-8		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
593	chr6_qbl_hap6	1167076	1167077	rs189370103	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p22.1	NR	rs189370103-?	NR	8E-6	(Native Hawaiian)	1.0607	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
594	chr6_qbl_hap6	1194285	1194286	rs2524005	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p22.1	other genes, MHC	rs2524005-?	NR	5E-7		1.32	[NR]	Affymetrix [745006]	N
594	chr6_qbl_hap6	1199455	1199456	rs2860580	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p22.1	HLA-A	rs2860580-?	0.62	5E-67		1.72	[1.61-1.82]	Illumina [464328]	N
594	chr6_qbl_hap6	1206090	1206091	rs1061235	21428769	McCormack M	2011-03-24	N Engl J Med	HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.	Adverse response to carbamapezine	65 European ancestry cases, 3,987 European ancestry controls	80 European ancestry cases, 257 European ancestry controls		HLA-A*3101	rs1061235-?	NR	1E-7		9.12	[4.03-20.65]	Illumina [~ 1200000] (imputed)	N
594	chr6_qbl_hap6	1210909	1210910	rs2517713	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-A	rs2517713-A	0.62	4E-20		1.88	[1.65-2.15]	Illumina [480365]	N
594	chr6_qbl_hap6	1213188	1213189	rs9260489	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	HLA-A	rs9260489-G	0.58	2E-22		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
594	chr6_qbl_hap6	1213188	1213189	rs9260489	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p22.1	HLA-B	rs9260489-T	0.45	1E-11		1.21	[NR]	Affymetrix, Illumina [2529394]	N
594	chr6_qbl_hap6	1215565	1215566	rs16896742	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p22.1	HLA-A	rs16896742-G	0.38	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
594	chr6_qbl_hap6	1216661	1216662	rs2571391	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-A	rs2571391-C	NR	1E-15		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
594	chr6_qbl_hap6	1226962	1226963	rs6935053	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p22.1	HCG9	rs6935053-?	NR	2E-6	(Conditioned on rs9271366)			Illumina [581060]	N
594	chr6_qbl_hap6	1228049	1228050	rs3893464	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs3893464-G	0.36	2E-20		1.53	[1.39-1.67]	Perlegen [268068]	N
594	chr6_qbl_hap6	1234734	1234735	rs2523946	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p22.1	NR	rs2523946-C	0.511	5E-11		1.317	[1.217-1.426]	Illumina [3792949] (imputed)	N
594	chr6_qbl_hap6	1234734	1234735	rs2523946	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p22.1	HLA-A	rs2523946-C	0.50	2E-11		1.21	[1.15-1.28]	Illumina [444882]	N
594	chr6_qbl_hap6	1234874	1234875	rs3823355	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p22.1	HLA-A, HCG9	rs3823355-T	0.29	9E-23		1.5	[1.39-1.63]	Illumina [520460]	N
594	chr6_qbl_hap6	1235858	1235859	rs6904029	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6p22.1	HLA-A29.1, HCG9	rs6904029-?		3E-6	(PC3)	0.0464	[NR] unit decrease	Illumina [4167292] (imputed)	N
594	chr6_qbl_hap6	1263503	1263504	rs7758512	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	HLA-A, ZNRD1, RNF39	rs7758512-?	NR	2E-8	(progression)			Illumina [NR]	N
594	chr6_qbl_hap6	1266840	1266841	rs4313034	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs4313034-T	0.83	2E-15		1.67	[1.47-1.90]	Perlegen [268068]	N
594	chr6_qbl_hap6	1310027	1310028	rs6917603	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	6p22.1	PPP1R11	rs6917603-?	NR	3E-29	(XXL-VLDL-P)	0.24	[0.2-0.28] unit decrease	Illumina [~ 7700000] (imputed)	N
595	chr6_qbl_hap6	1318499	1318500	rs259919	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	ZNRD1, C6orf12	rs259919-?	NR	3E-7	(setpoint)			Illumina [NR]	N
595	chr6_qbl_hap6	1325501	1325502	rs8321	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs8321-?	NR	8E-9	(5 degree of freedom test)	1.081	[1.04-1.12]	NR [1252901] (imputed)	N
595	chr6_qbl_hap6	1325501	1325502	rs8321	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p22.1	ZNRD1, RNF39	rs8321-G	NR	5E-7				Illumina [291119]	N
595	chr6_qbl_hap6	1368829	1368830	rs2023472	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	TRIM31	rs2023472-A	0.38	3E-15		0.03	[0.022-0.038] unit increase	Affymetrix [2500000] (imputed)	N
595	chr6_qbl_hap6	1371236	1371237	rs2523989	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p22.1	TRIM31	rs2523989-A	NR	2E-8		1.7499		Illumina [514008]	N
595	chr6_qbl_hap6	1373328	1373329	rs34704616	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6p22.1	XXbac-BPG250I8.13	rs34704616-?	NR	6E-6	(Colorword)			Illumina [up to 563855]	N
595	chr6_qbl_hap6	1386321	1386322	rs10947055	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6p22.1	TRIM38	rs10947055-?	NR	2E-7	(additive, recessive)			Affymetrix [361034]	N
595	chr6_qbl_hap6	1412837	1412838	rs9468692	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	TRIM10	rs9468692-?	NR	1E-6	(setpoint)			Illumina [NR]	N
596	chr6_qbl_hap6	1458199	1458200	rs2523722	22883433	Irish Schizophrenia Genomics Consortium & the Wellcome Trust Case Control Consortium 2	2012-08-07	Biol Psychiatry	Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.	Schizophrenia	1,606 European ancestry cases, 1,794 European ancestry controls	13,195 European ancestry cases, 31,021 European ancestry controls	6p22.1	MHC, TRIM26	rs2523722-G	0.737	1E-16		1.25	[1.12-1.39]	Affymetrix [6212339]	N
596	chr6_qbl_hap6	1467057	1467058	rs2021722	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs2021722-?	0.789	2E-12	(Modelling analysis)			NR [1252901] (imputed)	N
596	chr6_qbl_hap6	1467057	1467058	rs2021722	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	6p22.1	TRIM26	rs2021722-C	0.78	2E-12		1.15	[1.11-1.19]	Affymetrix, Illumina [1252901] (imputed)	N
596	chr6_qbl_hap6	1472342	1472343	rs2844775	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6p22.1	TRIM31, TRIM10, PPP1R11, TRIM40, TRIM15, HLA-A29.1, TRIM26, HCG9, ZNRD1, RNF39	rs2844775-A	0.25	8E-7	(Temperament)	0.15	[NR] unit decrease	Affymetrix [677643]	N
597	chr6_qbl_hap6	1592142	1592143	rs3094067	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	TRIM39, RPP21	rs3094067-G	0.096	2E-11		2.32	[1.68-3.20]	Affymetrix [906600]	N
597	chr6_qbl_hap6	1606240	1606241	rs6986	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6p22.1	NR	rs6986-C	0.2277	5E-6	(Trans-16:1n-7, EA)	0.0079	[0.0046-0.0112] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
598	chr6_qbl_hap6	1830511	1830512	rs3132613	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs3132613-C	0.25	1E-13		1.43	[1.30-1.57]	Perlegen [268068]	N
599	chr6_qbl_hap6	1959600	1959601	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937946818961625	6E-7	(IGP19)	0.3471	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
599	chr6_qbl_hap6	1959600	1959601	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937725588025022	3E-6	(IGP74)	0.3262	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
599	chr6_qbl_hap6	1959600	1959601	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937641317877842	2E-6	(IGP75)	0.3304	[0.19-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
599	chr6_qbl_hap6	1959600	1959601	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937418950958538	3E-6	(IGP69)	0.3228	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
599	chr6_qbl_hap6	1959600	1959601	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937308425901202	5E-7	(IGP76)	0.3469	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_qbl_hap6	1972558	1972559	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107712365538735	8E-6	(IGP65)	0.2214	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_qbl_hap6	1972558	1972559	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107418420152946	8E-6	(IGP2)	0.2231	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_qbl_hap6	1972558	1972559	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107325880449438	3E-6	(IGP42)	0.2336	[0.14-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_qbl_hap6	2029058	2029059	rs12526186	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	6p21.33	intergenic	rs12526186-?	NR	3E-6	(risperidone)	9.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
600	chr6_qbl_hap6	2030393	2030394	rs3094117	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p21.33	intergenic	rs3094117-?	0.77	2E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
600	chr6_qbl_hap6	2056193	2056194	rs3131060	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	FLOT1	rs3131060-A	0.112	1E-13		2.3	[1.71-3.11]	Affymetrix [906600]	N
600	chr6_qbl_hap6	2059849	2059850	rs4587207	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	6p21.33	FLOT1, LINC00243, IER3	rs4587207-G	0.20	2E-8	(EA)	3.14	[2.04-4.24] unit decrease	Affymetrix, Illumina [2033301]	N
600	chr6_qbl_hap6	2067275	2067276	rs3130783	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	IER3, DDR1	rs3130783-A	0.79	2E-11		1.16	[1.11-1.20]	Affymetrix, Illumina [2442884] (imputed)	N
600	chr6_qbl_hap6	2074925	2074926	rs886424	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	IER3, DDR1	rs886424-A	NR	3E-14		2.2107		Illumina [514008]	N
600	chr6_qbl_hap6	2074925	2074926	rs886424	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.33	other genes, MHC	rs886424-?	NR	9E-7		1.37	[NR]	Affymetrix [745006]	N
600	chr6_qbl_hap6	2088097	2088098	rs7772131	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	6p21.33	C6orf214	rs7772131-?	NR	3E-6	(AA)	6.73	[0.89-12.57] unit decrease	Affymetrix [~ 2300000] (imputed)	N
600	chr6_qbl_hap6	2090917	2090918	rs7749924	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs7749924-C	0.851598582628062	8E-6	(IGP32)	0.2204	[0.12-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_qbl_hap6	2092321	2092322	rs9501030	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.33	IER3, GTF2H4, FLOT1, VARS2, MIR588, DDR1	rs9501030-A	NR	4E-6	(Analysis II)			Illumina [313720]	N
601	chr6_qbl_hap6	2141239	2141240	rs7756521	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	VARS2, DDR1, DPCR1	rs7756521-?	NR	1E-6	(progression)			Illumina [NR]	N
601	chr6_qbl_hap6	2169136	2169137	rs1052693	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-A	rs1052693-G	0.36	3E-48	(Serum level of C4)	0.1	[0.080-0.120] g/L increase	Illumina [1940245] (imputed)	N
601	chr6_qbl_hap6	2206429	2206430	rs3132581	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.33	NR	rs3132581-G		2E-7	(Modelling analysis)			NR [1252901] (imputed)	N
601	chr6_qbl_hap6	2213095	2213096	rs3132580	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	DPCR1	rs3132580-T	0.1379	3E-40		2.74	[NR]	Illumina [242824]	N
602	chr6_qbl_hap6	2231851	2231852	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
602	chr6_qbl_hap6	2231851	2231852	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
602	chr6_qbl_hap6	2240479	2240480	rs3094084	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	MUC21, TRIM39, RPP21	rs3094084-T	0.154	2E-11		2.3	[1.76-3.01]	Affymetrix [906600]	N
602	chr6_qbl_hap6	2269648	2269649	rs28360974	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	6p21.33	MUC21	rs28360974-?	NR	3E-6	(Afro-Caribbean)	10.13	[3.85-26.67]	Illumina [2485249] (imputed)	N
602	chr6_qbl_hap6	2295556	2295557	rs7768644	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs7768644-A	0.091	3E-13	(trend)	5.01	[3.1-8.1] (allelic)	Affymetrix [522980]	N
602	chr6_qbl_hap6	2296071	2296072	rs4248154	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs4248154-C	0.54	1E-13		1.38	[1.27-1.50]	Perlegen [268068]	N
602	chr6_qbl_hap6	2300308	2300309	rs2844665	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	C6orf205	rs2844665-C	0.62	3E-7		1.54	[1.30-1.82]	Illumina [268914]	N
602	chr6_qbl_hap6	2313148	2313149	rs2251830	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	HCG22	rs2251830-A	0.36	5E-22		0.053	[0.041-0.065] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
602	chr6_qbl_hap6	2314578	2314579	rs2517532	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.33	HLA-C, LOC729792, HCG22, C6orf15, DHFRP2, HCP5, HLA-B	rs2517532-G	0.597	1E-8		1.16	[1.10-1.22]	Illumina [870065]	N
602	chr6_qbl_hap6	2314717	2314718	rs2523864	25813999	Jeong S	2015-04-01	Invest Ophthalmol Vis Sci	Identification of a Novel Mucin Gene HCG22 Associated with Steroid-Induced Ocular Hypertension.	Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)	64 European ancestry individuals	49 European ancestry individuals	6p21.33	HCG22, HLA-A, HLA-B, MUC22	rs2523864-T	0.412	5E-9				Illumina [1545328]	N
602	chr6_qbl_hap6	2320384	2320385	rs9262631	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9262631-A	0.063	6E-19	(trend)	7.09	[4.32-11.63] (allelic)	Affymetrix [522980]	N
602	chr6_qbl_hap6	2320591	2320592	rs9262632	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs9262632-G	0.10	1E-8	(AA)	3.1	[NR]	Illumina [1384048] (imputed)	N
602	chr6_qbl_hap6	2325904	2325905	rs2517510	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs2517510-T		4E-13	(WBC)	0.0129	[0.0094-0.0164] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
602	chr6_qbl_hap6	2353987	2353988	rs4947296	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	HCG22	rs4947296-?	NR	1E-11		2.57	[1.96-3.37]	Affymetrix [661736]	N
602	chr6_qbl_hap6	2353987	2353988	rs4947296	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	MUC21, C6orf15	rs4947296-C	0.14	4E-51		1.77	[1.65-1.91]	Illumina [486049]	N
602	chr6_qbl_hap6	2354149	2354150	rs3130544	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs3130544-A	NR	5E-7	(WBC)	0.0189	[0.011-0.026] unit decrease	Illumina [544917]	N
602	chr6_qbl_hap6	2354149	2354150	rs3130544	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	6p21.33	NR	rs3130544-A	0.13	2E-90		5.64	[4.77-6.67]	Illumina [274256]	N
602	chr6_qbl_hap6	2354149	2354150	rs3130544	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3130544-A	0.1238	9E-58		3.34	[NR]	Illumina [242824]	N
603	chr6_qbl_hap6	2365354	2365355	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		5E-6				NR [~ 3000000] (imputed)	N
603	chr6_qbl_hap6	2365354	2365355	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		2E-6				NR [~ 3000000] (imputed)	N
603	chr6_qbl_hap6	2369856	2369857	rs6457327	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.33	C6orf15	rs6457327-C	0.56	7E-6	(FL)	1.47	[1.27-1.72]	Illumina [312768]	N
603	chr6_qbl_hap6	2369856	2369857	rs6457327	19620980	Skibola CF	2009-07-20	Nat Genet	Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.	Follicular lymphoma	189 European ancestry cases, 592 European controls	456 European ancestry cases, 2,785 European ancestry controls	6p21.33	STG, PSORS1	rs6457327-C	0.62	5E-11		1.69	[1.43-2.00]	Illumina [~ 500000]	N
603	chr6_qbl_hap6	2377022	2377023	rs2233956	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs2233956-G	0.1813	6E-48		2.77	[NR]	Illumina [242824]	N
603	chr6_qbl_hap6	2381584	2381585	rs3094212	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	6p21.33	PSORS1C1, CDSN	rs3094212-C	0.35	7E-9		0.07	[0.046-0.094] unit increase	Illumina [561583]	N
603	chr6_qbl_hap6	2387788	2387789	rs9263688	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9263688-G	0.053	5E-21	(trend)	8.06	[4.86-13.37] (allelic)	Affymetrix [522980]	N
603	chr6_qbl_hap6	2389409	2389410	rs3815087	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	PSORS1C1	rs3815087-A	0.21	3E-7		1.53	[1.29-1.80]	Illumina [268914]	N
603	chr6_qbl_hap6	2389409	2389410	rs3815087	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	CDSN	rs3815087-?	NR	8E-8	(progression)			Illumina [NR]	N
603	chr6_qbl_hap6	2393143	2393144	rs3130559	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1	rs3130559-T	0.2	8E-9	(SP-D)			Illumina [588352]	N
603	chr6_qbl_hap6	2395420	2395421	rs4959053	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	PSORS1C1	rs4959053-?	.11	2E-20		4.38	[3.20-5.99]	Affymetrix [661736]	N
603	chr6_qbl_hap6	2396789	2396790	rs3823418	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	PSORS1C1	rs3823418-A	0.15	2E-7		0.026	[0.0084-0.0436] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
603	chr6_qbl_hap6	2397521	2397522	rs3130564	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	PSORS1C1	rs3130564-T	0.163	4E-10		2.05	[1.56-2.70]	Affymetrix [906600]	N
603	chr6_qbl_hap6	2397521	2397522	rs3130564	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	PSORS1C1	rs3130564-T	0.1934	1E-42		2.62	[NR]	Illumina [242824]	N
603	chr6_qbl_hap6	2398810	2398811	rs3132565	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs3132565-A	NR	1E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
603	chr6_qbl_hap6	2402113	2402114	rs3130573	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.33	PSORS1C1	rs3130573-G	0.32	6E-10		1.25	[1.17-1.35]	Illumina [489814]	N
603	chr6_qbl_hap6	2402304	2402305	rs1265097	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	PSORS1C1, PSORS1C2	rs1265097-A	0.115	2E-32		0.059	[0.049-0.069] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
603	chr6_qbl_hap6	2403031	2403032	rs1265093	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1, CCHCR1	rs1265093-A	0.26	6E-9	(SP-D)			Illumina [588352]	N
603	chr6_qbl_hap6	2403102	2403103	rs2285803	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	6p21.33	PSORS1C1, CCHCR1, TCF19, POU5F1, CDSN	rs2285803-A	0.32	1E-10		1.192	[1.13-1.26]	Illumina [414804]	N
603	chr6_qbl_hap6	2407189	2407190	rs9263739	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.33	HLA	rs9263739-T	0.15	4E-67		2.73	[2.43-3.07]	Illumina [513923]	N
603	chr6_qbl_hap6	2413851	2413852	rs1265112	21810746	Chantarangsu S	2011-08-01	Clin Infect Dis	Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.	Nevirapine-induced rash	72 Thai ancestry nevirapine-induced rash HIV cases, 77 Thai ancestry nevirapine-tolerant rash HIV cases	88 Thai ancestry nevirapine-induced rash HIV cases, 145 Thai ancestry nevirapine-tolerant HIV cases	6p21.33	CCHCR1	rs1265112-G	0.06	1E-8		4.36	[2.58-7.36]	Illumina [499730]	N
603	chr6_qbl_hap6	2414343	2414344	rs130067	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	6p21.33	CCHCR1	rs130067-G	0.21	3E-8		1.05	[1.02-1.09]	NR [2600000] (imputed)	N
603	chr6_qbl_hap6	2425160	2425161	rs7750641	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	TCF19	rs7750641-T	0.1263	3E-58		3.35	[NR]	Illumina [242824]	N
603	chr6_qbl_hap6	2426443	2426444	rs1419881	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	TCF19	rs1419881-G	0.55	3E-7		1.12	[1.08-1.18]	Illumina [3680900] (imputed)	N
603	chr6_qbl_hap6	2426443	2426444	rs1419881	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	TCF19	rs1419881-?	NR	1E-18		1.37	[1.23-1.52]	Illumina [719265]	N
603	chr6_qbl_hap6	2430754	2430755	rs3130931	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130931-C	0.69	8E-7		1.54	[1.29-1.84]	Illumina [268914]	N
603	chr6_qbl_hap6	2432321	2432322	rs3130501	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130501-G	0.74	2E-8		1.74	[1.43-2.13]	Illumina [268914]	N
603	chr6_qbl_hap6	2432582	2432583	rs3132524	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p21.33	TCF19, POU5F1	rs3132524-G		4E-9		1.07	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
603	chr6_qbl_hap6	2435320	2435321	rs879882	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs879882-?	NR	2E-7	(Conditioned on rs2256183)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
603	chr6_qbl_hap6	2435915	2435916	rs1265159	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs1265159-T	0.2191	4E-37		2.42	[NR]	Illumina [242824]	N
603	chr6_qbl_hap6	2438113	2438114	rs3094188	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.33	PSORS1C3	rs3094188-C	0.280	7E-7		1.61	[1.33-1.94]	Illumina [4929034] (imputed)	N
603	chr6_qbl_hap6	2438113	2438114	rs3094188	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3094188-A	0.63	3E-8		1.59	[1.34-1.88]	Illumina [268914]	N
603	chr6_qbl_hap6	2439450	2439451	rs3131018	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	PSORS1C3	rs3131018-C	0.625	4E-16	(EA)	2.1	[NR]	Illumina [1384048] (imputed)	N
603	chr6_qbl_hap6	2451642	2451643	rs1265181	19169255	Zhang XJ	2009-01-25	Nat Genet	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	Psoriasis	1,139 Han Chinese ancestry cases, 1,132 Han Chinese ancestry controls	5,721 Chinese ancestry cases, 7,340 Chinese ancestry controls	6p21.33	MHC	rs1265181-?	NR	2E-208		22.62		Illumina [494902]	N
603	chr6_qbl_hap6	2463877	2463878	rs6903896	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	6p21.33	NR	rs6903896-?	NR	6E-7	(sneeze)			Illumina [535076]	N
603	chr6_qbl_hap6	2466374	2466375	rs9263871	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.33	HCG27	rs9263871-G	NR	9E-6	(Dominant)	1.7	[1.35-2.13]	Affymetrix, Illumina [1621689] (imputed)	N
603	chr6_qbl_hap6	2480051	2480052	rs3869109	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	6p21.33	HCG27, HLA-C	rs3869109-G	NR	1E-9		1.14	[NR]	Affymetrix [~ 5000000] (imputed)	N
603	chr6_qbl_hap6	2481905	2481906	rs9263963	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9263963-T	0.113293342563644	1E-6	(IGP23)	0.2567	[0.15-0.36] unit increase	Illumina [~ 2500000] (imputed)	N
604	chr6_qbl_hap6	2492270	2492271	rs3130941	24324648	Yatagai Y	2013-12-04	PLoS One	Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.	IgE levels	967 Japanese ancestry individuals, 213 Japanese ancestry asthmatic individuals	1,894 Japanese ancestry individuals, 580 Japanese ancestry asthmatic individuals	6p21.33	HCG27, HLA-C	rs3130941-C	0.25	1E-10		0.098	unit increase	Illumina [479940]	N
604	chr6_qbl_hap6	2514925	2514926	rs3095254	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	6p21.33	MHC	rs3095254-C	0.461	8E-9	(Japanese)	0.035	[0.023-0.047] unit increase	Illumina [NR] (imputed)	N
604	chr6_qbl_hap6	2514925	2514926	rs3095254	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs3095254-C	0.46	6E-11	(monocyte count)	0.074	[0.05-0.09] unit increase	Illumina [2178645] (imputed)	N
604	chr6_qbl_hap6	2525356	2525357	rs3130542	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.16	9E-7		1.17	[1.10-1.24]	Illumina [3680900] (imputed)	N
604	chr6_qbl_hap6	2525356	2525357	rs3130542	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.13	9E-14		1.33	[1.23-1.44]	Illumina [490610]	N
604	chr6_qbl_hap6	2528755	2528756	rs2853953	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs2853953-A	0.9	5E-20		1.47	[1.35-1.59]	Illumina [3680900] (imputed)	N
604	chr6_qbl_hap6	2531562	2531563	rs9264638	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals			HLA-C	rs9264638-A	0.58	2E-23		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
604	chr6_qbl_hap6	2533666	2533667	rs2074488	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	HLA-C	rs2074488-T	0.13	2E-10	(SP-D)			Illumina [588352]	N
604	chr6_qbl_hap6	2534343	2534344	rs13191343	20953186	Huffmeier U	2010-10-17	Nat Genet	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	Psoriatic arthritis	572 European ancestry cases, 888 European ancestry controls	Up to 1,761 European ancestry cases, 3,727 European ancestry controls	6p21.33	HLA-C	rs13191343-T	0.13	2E-72		2.37	[2.16-2.61]	Affymetrix [1585307] (imputed)	N
604	chr6_qbl_hap6	2535385	2535386	rs2524079	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C3, HCG27, HLA-C, HLA-B	rs2524079-A		1E-11	(Lymphocytes)	0.0148	[0.010-0.019] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
604	chr6_qbl_hap6	2538172	2538173	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	6E-10		0.23	[NR] unit increase	Illumina [12100000] (imputed)	N
604	chr6_qbl_hap6	2538172	2538173	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	4E-10		0.25	[NR] unit increase	Illumina [12100000] (imputed)	N
604	chr6_qbl_hap6	2540404	2540405	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.717	8E-6	(Japanese)	0.013	[0.0071-0.0189] unit decrease	Illumina [NR] (imputed)	N
604	chr6_qbl_hap6	2540404	2540405	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.348	1E-8	(EA)	0.017	[0.011-0.023] unit decrease	Illumina [NR] (imputed)	N
604	chr6_qbl_hap6	2540404	2540405	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-?	NR	3E-14		0.0139	[0.010-0.017] unit decrease	Illumina [NR] (imputed)	N
604	chr6_qbl_hap6	2545593	2545594	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	6E-21	(CD8)	0.31	[0.25-0.37] SD decrease	Illumina [529721]	N
604	chr6_qbl_hap6	2545593	2545594	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	2E-28	(CD4:CD8)	0.37	[0.31-0.43] SD increase	Illumina [529721]	N
604	chr6_qbl_hap6	2546122	2546123	rs12191877	20953188	Ellinghaus E	2010-10-17	Nat Genet	Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.	Psoriasis	472 European ancestry cases, 1,146 European ancestry controls	2,668, European ancestry cases, 762 French Canadian founder population cases, 2,585 cases, 3,485 European ancestry controls, 994 French Canadian founder population controls, 2,412 controls	6p21.33	HLA-C	rs12191877-?	NR	4E-32		2.79	[2.35-3.33]	Illumina [2339118] (imputed)	N
604	chr6_qbl_hap6	2546122	2546123	rs12191877	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	6p21.33	HLA-C	rs12191877-T	0.15	1E-100		2.64	[NR]	Perlegen [~ 2500000] (imputed)	N
604	chr6_qbl_hap6	2552317	2552318	rs9468925	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA	rs9468925-?	0.617	2E-33		1.35	[1.28-1.41]	Illumina [493909]	N
604	chr6_qbl_hap6	2557222	2557223	rs2894207	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.33	HLA-C, HLA-B	rs2894207-?	0.82	3E-33		1.64	[1.52-1.75]	Illumina [464328]	N
604	chr6_qbl_hap6	2558955	2558956	rs2247056	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	HLA-C, HLA-B	rs2247056-T	0.27	4E-12		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
604	chr6_qbl_hap6	2558955	2558956	rs2247056	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	6p21.33	HLA	rs2247056-T	0.25	2E-15		2.99	[2.17-3.81] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
604	chr6_qbl_hap6	2565244	2565245	rs9461688	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6p21.33	HLA-C	rs9461688-?	0.31	4E-6	(IL18)			Illumina [496032]	N
604	chr6_qbl_hap6	2565791	2565792	rs6457374	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	HLA-C	rs6457374-T	0.73	8E-35		0.041	[0.035-0.047] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
604	chr6_qbl_hap6	2565851	2565852	rs9368677	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.33	HLA-C	rs9368677-G	0.798	1E-17		1.36	[1.27-1.46]	Illumina [606164]	N
604	chr6_qbl_hap6	2567903	2567904	rs9264942	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.33	NR	rs9264942-?	NR	5E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
604	chr6_qbl_hap6	2567903	2567904	rs9264942	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.33	PSORS1C1, NFKBIL1, HLA-C, MICB	rs9264942-C	0.378	5E-28		1.145	[1.107-1.184]	Affymetrix, Illumina [1230000] (imputed)	N
604	chr6_qbl_hap6	2567903	2567904	rs9264942	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-C	rs9264942-C	0.34	3E-35	(EA)	2.9	[NR]	Illumina [1384048] (imputed)	N
604	chr6_qbl_hap6	2567903	2567904	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-C	0.412	6E-32	(setpoint)	5.3	[NR] % increase	Illumina [NR]	N
604	chr6_qbl_hap6	2567903	2567904	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-?	NR	6E-12	(progression)			Illumina [NR]	N
604	chr6_qbl_hap6	2568078	2568079	rs10484554	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6p21.33	HLA-C	rs10484554-?	NR	4E-214		4.66	[4.23-5.13]	Illumina [535475]	N
604	chr6_qbl_hap6	2568078	2568079	rs10484554	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	HLA-C	rs10484554-T	0.13	6E-8				Illumina [291119]	N
604	chr6_qbl_hap6	2568078	2568079	rs10484554	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs10484554-T	0.15	2E-39		2.8	[2.40-3.30]	Illumina [305983]	N
604	chr6_qbl_hap6	2605801	2605802	rs3134792	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3134792-C	0.114	6E-72		3.93	[NR]	Illumina [242824]	N
604	chr6_qbl_hap6	2605801	2605802	rs3134792	18364390	Capon F	2008-03-25	Hum Mol Genet	Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.	Psoriasis	318 European ancestry cases, 288 European ancestry controls	2,361 European ancestry cases, 1,927 European ancestry controls	6p21.33	HLA-C	rs3134792-?	NR	1E-9				Illumina [~ 408000]	N
604	chr6_qbl_hap6	2614050	2614051	rs2442719	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.33	HLA-C, HLA-B	rs2442719-A	0.4161	8E-7	(Han)	0.3298	unit decrease	Illumina [up to 528294]	N
604	chr6_qbl_hap6	2614782	2614783	rs2596500	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs2596500-A	NR	8E-20		1.18	[NR]	Illumina [7158791] (imputed)	N
604	chr6_qbl_hap6	2615872	2615873	rs3819299	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.33	HLA-B	rs3819299-G	NR	9E-10		5.048	[3.43-6.66] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
604	chr6_qbl_hap6	2616064	2616065	rs2523608	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs2523608-A	0.59	9E-9		0.02	[0.012-0.028] unit increase	Affymetrix [2500000] (imputed)	N
604	chr6_qbl_hap6	2616064	2616065	rs2523608	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523608-G	0.326	9E-20	(AA)	2.6	[NR]	Illumina [1384048] (imputed)	N
604	chr6_qbl_hap6	2616064	2616065	rs2523608	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	6p21.33	HLA-B	rs2523608-?	0.37	3E-6				Illumina [1212217]	N
604	chr6_qbl_hap6	2616295	2616296	rs2523607	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	6p21.33	HLA-B	rs2523607-A	0.120	2E-10		1.32	[1.21-1.44]	Illumina [8363971] (imputed)	N
604	chr6_qbl_hap6	2617399	2617400	rs41549217	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	6p21.33	HLA-B, MICA, HCP5, HCG26	rs41549217-T	0.0288	2E-7		4.6582	[4.08-5.24]	Illumina [8809853] (imputed)	N
604	chr6_qbl_hap6	2620579	2620580	rs2523590	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523590-C	0.164	2E-13	(AA)	2.4	[NR]	Illumina [1384048] (imputed)	N
604	chr6_qbl_hap6	2621215	2621216	rs9378249	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	6p21.33	NR	rs9378249-?	NR	1E-8	(addtive)			Affymetrix [NR]	N
605	chr6_qbl_hap6	2624764	2624765	rs2523557	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	HLA-B, MICA	rs2523557-C	0.13	9E-35		7.33	[5.34-10.07]	Illumina [1392644]	N
605	chr6_qbl_hap6	2626242	2626243	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	7E-6		0.44	[0.24-0.64] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
605	chr6_qbl_hap6	2626242	2626243	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	2E-7		0.29	[0.17-0.41] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
605	chr6_qbl_hap6	2628843	2628844	rs17193122	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA-B*38:02	rs17193122-A	0.047	4E-27	(trend)	9.59	[5.78-15.90] (allelic)	Affymetrix [522980]	N
605	chr6_qbl_hap6	2629409	2629410	rs2922994	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.33	HLA-B, TCF19	rs2922994-G	0.113	2E-9		1.64	[1.39-1.92]	Illumina [611856]	N
605	chr6_qbl_hap6	2629609	2629610	rs7743761	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	6p21.33	MHC	rs7743761-?	NR	5E-304				Illumina [288662]	N
605	chr6_qbl_hap6	2629927	2629928	rs9266406	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	MICA, DHFRP2, MICB	rs9266406-?	.40	2E-10		2.29	[1.77-2.95]	Affymetrix [661736]	N
605	chr6_qbl_hap6	2640333	2640334	rs9266629	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	FGFR3P	rs9266629-C	0.21	4E-10	(SP-D)			Illumina [588352]	N
605	chr6_qbl_hap6	2640961	2640962	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	7E-9		1.09	[1.06-1.13]	Affymetrix, Illumina [2579389] (imputed)	N
605	chr6_qbl_hap6	2640961	2640962	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	1E-6	(AA)	1.11	[1.07-1.16]	Affymetrix, Illumina [2579389] (imputed)	N
605	chr6_qbl_hap6	2644202	2644203	rs1521	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	HLA-B	rs1521-T	0.79	2E-65		1.92	[1.78-2.08]	Illumina [486049]	N
605	chr6_qbl_hap6	2645611	2645612	rs9266772	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.33	MICA, HLA-C	rs9266772-C	0.1882	3E-12		0.104	[0.075-0.133] unit increase	Illumina [2400000] (imputed)	N
605	chr6_qbl_hap6	2646829	2646830	rs2596565	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.33	MICA, HLA-B	rs2596565-?		9E-9		1.4	[NR]	Illumina [452367]	N
605	chr6_qbl_hap6	2647682	2647683	rs6932730	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.33	MICA, HLA-C, HLA-B, MICB	rs6932730-T	0.82	4E-8		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr6_qbl_hap6	2648060	2648061	rs13437082	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	6p21.33	HLA-B	rs13437082-?	0.13	5E-8		0.07	[0.04-0.10] s.d. decrease	Illumina [229216]	N
605	chr6_qbl_hap6	2653693	2653694	rs7751505	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.33	MICA, VARS2	rs7751505-C	0.28	4E-6	(Pubertal growth)	0.07	[0.041-0.099] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr6_qbl_hap6	2655749	2655750	rs16899524	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs16899524-C	0.93	1E-8		0.04	[0.026-0.054] unit increase	Affymetrix [2500000] (imputed)	N
605	chr6_qbl_hap6	2658157	2658158	rs2251396	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	PSORS1C1, MICA, HCP5	rs2251396-T	NR	1E-22		2.2132		Illumina [514008]	N
605	chr6_qbl_hap6	2659237	2659238	rs4349859	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	6p21.33	HLA-B	rs4349859-A	0.04	1E-200	(less than)			Illumina [2223620] (imputed)	N
605	chr6_qbl_hap6	2660045	2660046	rs2596542	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.33	MICA	rs2596542-A	0.33	4E-13		1.39	[1.27-1.52]	Illumina [432703]	N
605	chr6_qbl_hap6	2667707	2667708	rs2857281	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	MICA	rs2857281-C	0.081	1E-37		11.92	[8.16-17.42]	Illumina [1392644]	N
605	chr6_qbl_hap6	2671051	2671052	rs12175489	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.33	HCP5, HLA-B	rs12175489-A	0.15	2E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
605	chr6_qbl_hap6	2674072	2674073	rs2256183	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs2256183-A	0.45	8E-29		0.04	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
605	chr6_qbl_hap6	2732095	2732096	rs2596449	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs2596449-A	0.047	2E-13	(trend)	6.35	[3.68-10.96] (allelic)	Affymetrix [522980]	N
605	chr6_qbl_hap6	2733787	2733788	rs1055569	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Psychotic symptoms and prion disease	Up to 170 cases, 5,200 controls	NA	6p21.33	HCG26	rs1055569-?	0.291	3E-6		2.36	[1.66-3.35]	Illumina [518938]	N
605	chr6_qbl_hap6	2734374	2734375	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	3E-9		0.0069	[0.0046-0.0092] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
605	chr6_qbl_hap6	2734374	2734375	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	1E-9		0.0079	[0.0054-0.0105] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
605	chr6_qbl_hap6	2740501	2740502	rs2248462	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.33	MICB	rs2248462-?	NR	7E-16	(Total cHL)	1.64	[1.45-1.85]	Illumina [502514]	N
605	chr6_qbl_hap6	2742567	2742568	rs3749946	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	3.8-1, HCG26	rs3749946-A	0.07	2E-15		1.97	[1.66-2.33]	Illumina [480391]	N
605	chr6_qbl_hap6	2742681	2742682	rs3099844	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	6p21.33	HCG26, MICB	rs3099844-A	0.08	2E-8	(HDL)	0.15	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
605	chr6_qbl_hap6	2742681	2742682	rs3099844	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	6p21.33	NFKBIL1, LTA, AIF1, TNF, LTB	rs3099844-?	0.11	5E-10		3.34	[2.29-4.89]	Illumina [346110]	N
606	chr6_qbl_hap6	2766424	2766425	rs2855812	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	MICB	rs2855812-T	NR	2E-7	(FEV1)	0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_qbl_hap6	2769190	2769191	rs3132468	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	6p21.33	MICB	rs3132468-?	0.13	4E-11		1.34	[1.23-1.46]	Illumina [481342]	N
606	chr6_qbl_hap6	2774996	2774997	rs2516399	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs2516399-A	0.81	2E-12	(eosinophil count)	0.105	[0.08-0.14] unit increase	Illumina [2178645] (imputed)	N
606	chr6_qbl_hap6	2793282	2793283	rs3853601	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	6p21.33	BAT1	rs3853601-G	0.12	2E-6		1.13	[1.08-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_qbl_hap6	2799157	2799158	rs2734583	21912425	Tohkin M	2011-09-13	Pharmacogenomics J	A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.	Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)	14 Japanese ancestry cases, 991 Japanese ancestry controls	NA	6p21.33	PSORS1C1, PSORS1C3, BAT1, HLA-C, MICC, PPIAP9, POLR2LP, CCHCR1, TCF19, HLA-B*5801, HCP5, POU5F1	rs2734583-?	0.0055	2E-8		66.8	[19.8-225.0]	Illumina [890321]	N
606	chr6_qbl_hap6	2835945	2835946	rs1799964	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6p21.33	HLA-DQA2, LTA, TNF, LST1, LTB	rs1799964-C	0.209	4E-11		1.19	[1.13-1.25]	Affymetrix, Illumina [953241] (imputed)	N
606	chr6_qbl_hap6	2851432	2851433	rs11575839	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-C	rs11575839-A	0.05	1E-54	(Serum level of C4)	0.23	[0.21-0.25] g/L decrease	Illumina [1940245] (imputed)	N
606	chr6_qbl_hap6	2862103	2862104	rs2857595	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	NFKBIL1, LTA, NCR3	rs2857595-T	NR	2E-23		2.3765		Illumina [514008]	N
606	chr6_qbl_hap6	2862103	2862104	rs2857595	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	6p21.33	AIF1, HLA	rs2857595-?	0.50	2E-15		1.3	[1.22-1.39]	Affymetrix [662108]	N
606	chr6_qbl_hap6	2862103	2862104	rs2857595	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	NCR3	rs2857595-?	NR	8E-8	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
606	chr6_qbl_hap6	2862103	2862104	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	2E-10	(FEV1/FVC)	0.037	[0.025-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_qbl_hap6	2862103	2862104	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	1E-6	(FEV1)	0.025	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_qbl_hap6	2866585	2866586	rs2844479	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	AIF1	rs2844479-A	0.66	3E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
606	chr6_qbl_hap6	2866585	2866586	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393698650943396	4E-6	(IGP60)	0.151	[0.087-0.215] unit increase	Illumina [~ 2500000] (imputed)	N
606	chr6_qbl_hap6	2866585	2866586	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393631380483438	4E-6	(IGP6)	0.1506	[0.086-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
606	chr6_qbl_hap6	2866585	2866586	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393516127507802	9E-6	(IGP61)	0.1445	[0.081-0.208] unit increase	Illumina [~ 2500000] (imputed)	N
606	chr6_qbl_hap6	2866585	2866586	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393054780607685	7E-6	(IGP58)	0.1476	[0.083-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
606	chr6_qbl_hap6	2866585	2866586	rs2844479	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	6p21.33	AIF1, NCR3	rs2844479-T	0.68	2E-8		3.58	[2.33-4.83] percentage SD increase	Illumina [305846]	N
606	chr6_qbl_hap6	2868919	2868920	rs9348876	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	6p21.33	AIF1	rs9348876-T	0.06	3E-6		1.41	[1.22-1.63]	Illumina [508934]	N
606	chr6_qbl_hap6	2882024	2882025	rs2857693	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	BAT2	rs2857693-T	0.38	3E-29		0.034	[0.028-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
607	chr6_qbl_hap6	2884535	2884536	rs2736172	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	6p21.33	TNF, MICB	rs2736172-?		4E-6				Affymetrix [545513]	N
607	chr6_qbl_hap6	2889520	2889521	rs1046080	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6p21.33	PRRC2A	rs1046080-A	0.74	1E-14	(X-11444/X-11470)	0.027	[0.019-0.035] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
607	chr6_qbl_hap6	2895479	2895480	rs3115663	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT2	rs3115663-G	0.1812	7E-57		3.04	[NR]	Illumina [242824]	N
607	chr6_qbl_hap6	2896603	2896604	rs1046089	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.33	PRRC2A, BAG6	rs1046089-G	0.34	4E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
607	chr6_qbl_hap6	2896603	2896604	rs1046089	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	6p21.33	NR	rs1046089-A	0.3492	4E-11		0.1919	[0.13-0.25] years increase	NR [NR]	N
607	chr6_qbl_hap6	2896603	2896604	rs1046089	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	6p21.33	PRRC2A	rs1046089-A	0.353	2E-16		0.213	[0.16-0.26] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
607	chr6_qbl_hap6	2910005	2910006	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	2E-11		0.376	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_qbl_hap6	2910005	2910006	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	1E-10		0.054	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_qbl_hap6	2910005	2910006	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	3E-11		0.228	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_qbl_hap6	2914156	2914157	rs3117582	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p21.33	APOM, BAT3	rs3117582-C	0.10	5E-12		1.22	[1.15-1.29]	Illumina [515922]	N
607	chr6_qbl_hap6	2914156	2914157	rs3117582	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	6p21.33	BAT3	rs3117582-?	NR	4E-10		1.24	[1.16-1.33]	Illumina [511919]	N
607	chr6_qbl_hap6	2914156	2914157	rs3117582	18978787	Wang Y	2008-11-02	Nat Genet	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.	Lung cancer	5,095 European ancestry cases, 5,200 European ancestry cases	2,448 European ancestry cases, 2,983 European ancestry controls	6p21.33	BAT3, MSH5	rs3117582-C	NR	5E-10		1.24	[1.16-1.33]	Illumina [223891]	N
607	chr6_qbl_hap6	2916242	2916243	rs805297	21844665	Hu HJ	2011-08-16	Exp Mol Med	Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis.	Rheumatoid arthritis	100 Korean ancestry cases, 600 Korean ancestry controls	578 Korean ancestry cases, 711 Korean ancestry controls	6p21.33	APOM	rs805297-A	0.36	3E-10		1.56	[1.36-1.80]	Affymetrix [300909]	N
607	chr6_qbl_hap6	2925776	2925777	rs3130618	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	GPANK1	rs3130618-C	0.79	2E-7		1.34	[1.20-1.49]	Illumina [8129524] (imputed)	N
607	chr6_qbl_hap6	2925776	2925777	rs3130618	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT4	rs3130618-A	0.1811	2E-56		3.03	[NR]	Illumina [242824]	N
607	chr6_qbl_hap6	2930384	2930385	rs9267531	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	CSNK2B	rs9267531-?	NR	8E-8				Affymetrix [up to 700598]	N
607	chr6_qbl_hap6	2930384	2930385	rs9267531	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	CSNK2B, MSH5, MICA, MICB	rs9267531-G	0.1	3E-14		2.62	[1.93-3.54]	Affymetrix [906600]	N
608	chr6_qbl_hap6	3014676	3014677	rs3131379	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	MSH5	rs3131379-?	NR	8E-8				Affymetrix [up to 700598]	N
608	chr6_qbl_hap6	3014676	3014677	rs3131379	18204446	Harley JB	2008-01-20	Nat Genet	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.	Systemic lupus erythematosus	720 European ancestry female cases, 2,337 European ancestry female controls	1,846 European ancestry female cases, 1,825 European ancestry female controls	6p21.33	HLA region	rs3131379-A	0.1	2E-52		2.36	[2.11-2.64]	Illumina [317501]	N
608	chr6_qbl_hap6	3072176	3072177	rs2075799	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2075799-T	0.20	6E-97	(Serum level of C4)	0.17	[0.15-0.19] g/L decrease	Illumina [1940245] (imputed)	N
608	chr6_qbl_hap6	3096123	3096124	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824607758652095	1E-6	(IGP41)	0.1858	[0.11-0.26] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_qbl_hap6	3096123	3096124	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.824401248864668	4E-6	(IGP1)	0.1774	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_qbl_hap6	3096123	3096124	rs4711279	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs4711279-C	0.823257144469526	3E-7	(IGP19)	0.1964	[0.12-0.27] unit decrease	Illumina [~ 2500000] (imputed)	N
608	chr6_qbl_hap6	3096199	3096200	rs9368699	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	SNORD52	rs9368699-?	NR	5E-8	(progression)			Illumina [NR]	N
608	chr6_qbl_hap6	3096787	3096788	rs17201248	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs17201248-T	0.092	3E-7	(trend)	3.48	[2.09-5.81] (allelic)	Affymetrix [522980]	N
608	chr6_qbl_hap6	3120495	3120496	rs67682613	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs67682613-G	NR	7E-19		1.1494253	[NR]	Illumina [7158791] (imputed)	N
608	chr6_qbl_hap6	3130854	3130855	rs11966200	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA-C, HLA-B	rs11966200-A	0.06	1E-48		1.9	[1.74-2.07]	Illumina [493909]	N
608	chr6_qbl_hap6	3132501	3132502	rs494620	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	6p21.33	NR	rs494620-?	NR	5E-7		0.3	[0.18-0.42] years increase	Illumina [315418]	N
608	chr6_qbl_hap6	3136389	3136390	rs12661281	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	6p21.33	SLC44A4	rs12661281-?	NR	1E-11		1.27	[NR]	Illumina [4471719] (imputed)	N
608	chr6_qbl_hap6	3137715	3137716	rs2736428	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	6p21.33	SLC44A4	rs2736428-T	NR	3E-6		0.05	[0.03-0.07] kb increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
608	chr6_qbl_hap6	3145024	3145025	rs652888	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	EHMT2	rs652888-G	0.24	1E-6		1.14	[1.08-1.19]	Illumina [3680900] (imputed)	N
608	chr6_qbl_hap6	3145024	3145025	rs652888	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	EHMT2	rs652888-?	NR	7E-13		1.38	[1.22-1.57]	Illumina [719265]	N
608	chr6_qbl_hap6	3145024	3145025	rs652888	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	EHMT2	rs652888-C	0.2021	3E-46		2.71	[NR]	Illumina [242824]	N
609	chr6_qbl_hap6	3161044	3161045	rs9267663	22566634	Benjamin DJ	2012-05-07	Proc Natl Acad Sci U S A	The genetic architecture of economic and political preferences.	Economic and political preferences (environmentalism)	9,617 European ancestry individuals	NA	6p21.33	EHMT2	rs9267663-T	NR	6E-6		0.29	[0.16-0.42] unit decrease	Illumina [628922]	N
609	chr6_qbl_hap6	3164119	3164120	rs558702	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.33	C2	rs558702-A	0.1	8E-21		2.276	[2.097-2.47]	Illumina [NR]	N
609	chr6_qbl_hap6	3164649	3164650	rs9267665	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.33	HLA	rs9267665-?	NR	1E-17		2.05	[1.64-2.57]	Illumina [455508]	N
609	chr6_qbl_hap6	3177470	3177471	rs9267673	21105107	Clifford RJ	2010-12-01	Hepatology	Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.	Hepatocellular carcinoma	180 Korean ancestry cases, 271 Korean ancestry controls	206 Korean ancestry cases, 416 East Asian ancestry controls,	6p21.33	C2	rs9267673-?	0.08	2E-6		1.97	[1.47-2.64]	Affymetrix [658897]	N
609	chr6_qbl_hap6	3197596	3197597	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	C2	rs9332739-?	0.955	1E-6		2.63	[1.79-3.85]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_qbl_hap6	3197596	3197597	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	C2	rs9332739-?	0.955	2E-8		2.08	[1.61-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_qbl_hap6	3197596	3197597	rs9332739	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	C2	rs9332739-?	0.96	2E-23		2.17	[NR]	Affymetrix [6036699] (imputed)	N
609	chr6_qbl_hap6	3199802	3199803	rs9380272	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs9380272-A	0.012	2E-8		4.31	[2.76-6.87]	Illumina [~ 2500000] (imputed)	N
609	chr6_qbl_hap6	3207972	3207973	rs12614	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	CFB	rs12614-T	0.92	1E-34		1.89	[1.69-2.08]	Illumina [3680900] (imputed)	N
609	chr6_qbl_hap6	3207973	3207974	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	CFB	rs641153-?	0.899	2E-9		2.13	[1.69-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_qbl_hap6	3207973	3207974	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	CFB	rs641153-?	0.899	1E-17		2.22	[1.85-2.63]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_qbl_hap6	3207973	3207974	rs641153	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	CFB	rs641153-?	0.90	6E-31		1.85	[NR]	Affymetrix [6036699] (imputed)	N
609	chr6_qbl_hap6	3207973	3207974	rs641153	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	6p21.33	CFB, C2	rs641153-?	NR	2E-20				Affymetrix [632932]	N
609	chr6_qbl_hap6	3210744	3210745	rs541862	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.33	CFB	rs541862-T	0.99	9E-17		1.89	[1.61-2.17]	Illumina [2272849] (imputed)	N
609	chr6_qbl_hap6	3211333	3211334	rs4151657	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	CFB, BAT2, MSH5, HSPA1L, SLC44A4	rs4151657-G	0.29	5E-14		1.54	[1.38-1.73]	Illumina [480391]	N
609	chr6_qbl_hap6	3212653	3212654	rs1270942	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	BAT2, HSPA1L, CFB, TNXB, NOTCH4	rs1270942-C	NR	5E-25		3.0494		Illumina [514008]	N
609	chr6_qbl_hap6	3213710	3213711	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (extreme sampling)	720 European ancestry grade 5 cases, 513 European ancestry grade 1 controls	70 European ancestry grade 5 cases, 73 European ancestry grade 1 controls	6p21.33	RDBP, CFB, DKFZp779M0311	rs522162-?	0.93	3E-7		2.38	[1.69-3.33]	Affymetrix [2543887] (imputed)	N
609	chr6_qbl_hap6	3213710	3213711	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	RDBP, CFB, ATF6B, STK19	rs522162-?	0.93	2E-10		2.33	[1.82-3.03]	Affymetrix [2543887] (imputed)	N
609	chr6_qbl_hap6	3224139	3224140	rs2734331	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p21.33	SKIV2L	rs2734331-A	0.97	7E-13	(X-11470)	0.073	[0.053-0.093] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
609	chr6_qbl_hap6	3224229	3224230	rs592229	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	6p21.33	HLA	rs592229-G	0.43	2E-8		0.048	[0.030-0.066] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
609	chr6_qbl_hap6	3224229	3224230	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370399655280899	4E-6	(IGP42)	0.1536	[0.088-0.219] unit increase	Illumina [~ 2500000] (imputed)	N
609	chr6_qbl_hap6	3224229	3224230	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370283129554656	9E-6	(IGP2)	0.1479	[0.083-0.213] unit increase	Illumina [~ 2500000] (imputed)	N
609	chr6_qbl_hap6	3224250	3224251	rs429608	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	CFB, C2	rs429608-G	0.86	4E-89		1.74	[1.68-1.79]	Affymetrix, Illumina [2442884] (imputed)	N
609	chr6_qbl_hap6	3224250	3224251	rs429608	20861866	Kopplin LJ	2010-09-23	Genes Immun	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Age-related macular degeneration	684 European ancestry cases, 188 European ancestry controls	1,896 European ancestry cases, 1,866 European ancestry controls	6p21.33	BF, SKIV2L	rs429608-?	NR	5E-15		1.85	[NR]	Affymetrix [> 361556] (imputed)	N
609	chr6_qbl_hap6	3224250	3224251	rs429608	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs429608-G	0.842	3E-21		2.16	[1.84-2.53]	Illumina [~ 2500000] (imputed)	N
609	chr6_qbl_hap6	3226949	3226950	rs406936	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	SKIV2L	rs406936-?	0.10	7E-7		1.75	[1.41-2.17]	Affymetrix [2543887] (imputed)	N
609	chr6_qbl_hap6	3234685	3234686	rs389884	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	CFB, STK19, ZBTB12	rs389884-C	0.0953	2E-8	(EA, WBC)	0.0254	[0.017-0.034] unit decrease	Illumina [544917]	N
609	chr6_qbl_hap6	3234685	3234686	rs389884	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs389884-C	0.1148	8E-66		3.65	[NR]	Illumina [242824]	N
610	chr6_qbl_hap6	3280799	3280800	rs2857009	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2857009-G	0.20	1E-22	(Serum level of C4)	0.08	[0.060-0.100] g/L increase	Illumina [1940245] (imputed)	N
610	chr6_qbl_hap6	3287861	3287862	rs12198173	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	TNXB	rs12198173-?	NR	3E-6	(progression)			Illumina [NR]	N
610	chr6_qbl_hap6	3305886	3305887	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	3E-9		0.68	[0.44-0.92] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_qbl_hap6	3305886	3305887	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	6p21.33	CYP21A2	rs2021783-C	0.79	4E-11				Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_qbl_hap6	3305886	3305887	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	2E-12		0.49	[0.35-0.63] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_qbl_hap6	3311089	3311090	rs185819	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.33	HLA class III	rs185819-T	0.52	3E-8		5.2	[3.44-6.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
610	chr6_qbl_hap6	3311780	3311781	rs1150754	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.33	TNXB	rs1150754-A	0.13	6E-29	(anti-dsDNA +)	2.21	[1.93-2.53]	Illumina [421318] (imputed)	N
610	chr6_qbl_hap6	3370994	3370995	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	4E-11		0.0266	[0.019-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
610	chr6_qbl_hap6	3370994	3370995	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	3E-9	(EA)	0.025	[0.017-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
610	chr6_qbl_hap6	3370994	3370995	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
610	chr6_qbl_hap6	3370994	3370995	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
610	chr6_qbl_hap6	3370994	3370995	rs204999	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs204999-G	0.2643	9E-40		2.44	[NR]	Illumina [242824]	N
610	chr6_qbl_hap6	3375530	3375531	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196796488164359	4E-6	(IGP18)	0.1779	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
610	chr6_qbl_hap6	3375530	3375531	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.19676420855615	4E-6	(IGP25)	0.1773	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
610	chr6_qbl_hap6	3375530	3375531	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196432337204109	4E-8	(IGP23)	0.2111	[0.14-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
610	chr6_qbl_hap6	3383484	3383485	rs3096696	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	PPT2	rs3096696-A		4E-6		1.478		Affymetrix [NR]	N
610	chr6_qbl_hap6	3388496	3388497	rs3134950	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	6p21.32	AGPAT1, PPT2	rs3134950-A	0.625	6E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
610	chr6_qbl_hap6	3388496	3388497	rs3134950	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		6p21.32	EGFL8, AGPAT1, PPT2	rs3134950-A	NR	1E-6		0.0945	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
610	chr6_qbl_hap6	3395529	3395530	rs3096697	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	EGFL8	rs3096697-T	0.2054	1E-41		2.58	[NR]	Illumina [242824]	N
610	chr6_qbl_hap6	3397566	3397567	rs1061808	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	6p21.32	AGPAT1	rs1061808-?	NR	8E-10	(proportions)	0.9	[NR] % increase	Illumina [NR] (imputed)	N
610	chr6_qbl_hap6	3401506	3401507	rs3130284	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	AGPAT1	rs3130284-C	NR	7E-6		1.464		Affymetrix [NR]	N
610	chr6_qbl_hap6	3407511	3407512	rs3134945	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	RNF5	rs3134945-T	0.2049	2E-40		2.54	[NR]	Illumina [242824]	N
611	chr6_qbl_hap6	3408176	3408177	rs41268928	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	RNF5, NOTCH4, AGER	rs41268928-C	0.04	3E-16	(EA)	0.69	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_qbl_hap6	3410279	3410280	rs2071288	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	AGER, RNF5, NOTCH4	rs2071288-T	0.1	2E-8	(Blacks)	0.56	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_qbl_hap6	3412462	3412463	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	4E-9	(All)	0.23	[0.15-0.31] unit decrease	Illumina [6900000] (imputed)	N
611	chr6_qbl_hap6	3412462	3412463	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	5E-9	(%LAA-950, All)	0.14	[-0.07560-0.35560] unit decrease	Illumina [7600000] (imputed)	N
611	chr6_qbl_hap6	3412462	3412463	rs2070600	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	AGER	rs2070600-?	NR	1E-21	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
611	chr6_qbl_hap6	3412462	3412463	rs2070600	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	6p21.32	AGER, PPT2	rs2070600-T	0.04	3E-14	(FEV1/FVC)	1.0	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
611	chr6_qbl_hap6	3412462	3412463	rs2070600	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	6p21.32	AGER	rs2070600-T	0.06	3E-15	(FEV1/FVC)	0.088	[0.066-0.110] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_qbl_hap6	3416597	3416598	rs204993	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	PBX2	rs204993-A	0.58	2E-15		1.17	[1.12-1.21]	Illumina [458847]	N
611	chr6_qbl_hap6	3419336	3419337	rs176095	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	GPSM3	rs176095-G	NR	3E-7		1.3020833	[1.18-1.44]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
611	chr6_qbl_hap6	3419336	3419337	rs176095	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	GPSM3	rs176095-T	0.81	8E-20		1.4	[1.30-1.51]	Illumina [606164]	N
611	chr6_qbl_hap6	3424765	3424766	rs13215567	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	GPSM3, NOTCH4	rs13215567-A	0.049	1E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
611	chr6_qbl_hap6	3426460	3426461	rs2071278	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRA	rs2071278-G	0.27	4E-72	(Serum level of C4)	0.13	[0.11-0.15] g/L decrease	Illumina [1940245] (imputed)	N
611	chr6_qbl_hap6	3432101	3432102	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	5E-7	(EA)	1.25	[NR]	NR [1085772] (imputed)	N
611	chr6_qbl_hap6	3432101	3432102	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	3E-7		1.25	[NR]	NR [1085772] (imputed)	N
611	chr6_qbl_hap6	3432709	3432710	rs2071277	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	NOTCH4	rs2071277-C	0.219	2E-11		1.3	[1.20-1.41]	Illumina [2272849] (imputed)	N
611	chr6_qbl_hap6	3434019	3434020	rs3131296	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	6p21.32	MHC, NOTCH4	rs3131296-G	0.87	2E-10		1.19	[NR]	Illumina [314868]	N
611	chr6_qbl_hap6	3440916	3440917	rs2071286	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	NOTCH4	rs2071286-?	0.29	2E-8		2.15	[NR]	Illumina [899641]	N
611	chr6_qbl_hap6	3445365	3445366	rs404860	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	NOTCH4	rs404860-A	0.50	4E-23		1.21	[1.16-1.25]	Illumina [458847]	N
611	chr6_qbl_hap6	3449403	3449404	rs422951	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	NOTCH4	rs422951-G	0.81	5E-16		1.27	[1.20-1.35]	Illumina [3680900] (imputed)	N
611	chr6_qbl_hap6	3451048	3451049	rs3132946	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	6p21.32	NR	rs3132946-A	0.12	8E-6		1.38	[1.21-1.57]	Illumina [439828]	N
611	chr6_qbl_hap6	3451426	3451427	rs443198	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs443198-?	0.63	9E-21	(ACA positive)	1.82	[1.59-2.04]	Illumina [NR] (imputed)	N
611	chr6_qbl_hap6	3451640	3451641	rs3134931	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		6p21.32	HLA, NOTCH4, C2	rs3134931-T	0.73	1E-8		0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [2397181]	N
611	chr6_qbl_hap6	3453351	3453352	rs3096702	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	6p21.32	CYP21A2, DOM3Z, FKBPL, HLA-DRB6, HCG23, LOC10029, ATF6B, LOC100293534, AGER, LOC100507547, MIR1236, PPT2, PPT2-EGF, HLA-DRA, PPT2-EGFL8, RNF5, RNF5P1, CFB, RDBP, TNXA, TNXB, HLA-DQB1, NOTCH4, SKIV2L, STK19, GPSM3, PBX2, LOC10050, EGFL8, AGPAT1, C2, C4A, PRRT1, BTNL2, C4B, HLA-DRB5, C6orf10, HLA-DRB1, CYP21A1P, HLA-DQA1	rs3096702-A	0.4	5E-9		1.07	[1.04-1.10]	Illumina [~ 2600000] (imputed)	N
611	chr6_qbl_hap6	3466046	3466047	rs549182	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	NOTCH4	rs549182-A	0.11	8E-10		1.59	[1.37-1.85]	Illumina [480391]	N
611	chr6_qbl_hap6	3466111	3466112	rs9267911	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	PBX2, NOTCH4	rs9267911-T	0.479	3E-7		1.5	[1.29-1.76]	Illumina [4929034] (imputed)	N
611	chr6_qbl_hap6	3469329	3469330	rs424232	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	6p21.32	HLA	rs424232-C		5E-21				Illumina [944512] (imputed)	N
611	chr6_qbl_hap6	3471807	3471808	rs419132	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6p21.32	HLA-area	rs419132-G	0.2	5E-12		0.056	[0.04-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
611	chr6_qbl_hap6	3478107	3478108	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-C	0.585	6E-6	(EA)	0.02	[0.012-0.028] unit increase	Illumina [NR] (imputed)	N
611	chr6_qbl_hap6	3478107	3478108	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-?	NR	3E-8		0.0196	[0.013-0.026] unit decrease	Illumina [NR] (imputed)	N
611	chr6_qbl_hap6	3478247	3478248	rs9267972	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	C6orf10, NOTCh4	rs9267972-A	NR	2E-6	(Dominant)	1.85	[1.46,2.33]	Affymetrix, Illumina [1621689] (imputed)	N
611	chr6_qbl_hap6	3479858	3479859	rs3115573	20595679	Feehally J	2010-07-01	J Am Soc Nephrol	HLA has strongest association with IgA nephropathy in genome-wide analysis.	Nephropathy	187 European ancestry child cases, 244 European ancestry cases, 4,980 European ancestry controls	NA	6p21.32	intergenic	rs3115573-?	NR	1E-9		1.62	[1.39-1.90]	Illumina [286200]	N
611	chr6_qbl_hap6	3480004	3480005	rs9296015	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs9296015-?	0.81	1E-8	(ATA positive)	1.85	[1.49-2.27]	Illumina [NR] (imputed)	N
611	chr6_qbl_hap6	3480004	3480005	rs9296015	21505073	Terao C	2011-04-19	Hum Mol Genet	The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.	Rheumatoid arthritis	1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls	4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls	6p21.32	HLA locus	rs9296015-?	NR	2E-38				Illumina [241523]	N
611	chr6_qbl_hap6	3484444	3484445	rs3130320	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	NOTCH4, C6orf10	rs3130320-T	0.39	3E-6	(case-only)	1.39	[1.21-1.60]	Illumina [421318] (imputed)	N
611	chr6_qbl_hap6	3505824	3505825	rs3130340	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	6p21.32	MHC, C6orf10	rs3130340-T	0.79	1E-7		0.1	[0.06-0.13] s.d. decrease	Illumina [301019]	N
611	chr6_qbl_hap6	3518784	3518785	rs926070	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	6p21.32	HLA	rs926070-A		4E-8	0.66	1.27	[NR]	Illumina [450000] (imputed)	N
612	chr6_qbl_hap6	3544050	3544051	rs6910071	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6p21.32	HLA-DRB1	rs6910071-G	0.22	1E-299		2.88	[2.73-3.03]	Affymetrix, Illumina [~ 2716259] (imputed)	N
612	chr6_qbl_hap6	3567182	3567183	rs3129900	20639878	Singer JB	2010-07-18	Nat Genet	A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.	Lumiracoxib-related liver injury	31 European ancestry cases, 3 Hispanic cases, 1 case, 176 European, Hispanic and other ancestry controls	79 European ancestry cases, 16 Hispanic ancestry cases, 1 case, 405 European, Hispanic and other ancestry controls	6p21.32	HLA-DRB1	rs3129900-?	0.105	7E-25		7.5	[5.0-11.3]	Affymetrix [682386]	N
612	chr6_qbl_hap6	3570113	3570114	rs9469099	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	C6orf10	rs9469099-G	0.909	5E-19		1.61	[1.44-1.80]	Illumina [606164]	N
612	chr6_qbl_hap6	3576590	3576591	rs910049	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	C6orf10	rs910049-A	0.142	9E-11		1.46	[1.28-1.62]	Illumina [431618]	N
612	chr6_qbl_hap6	3580498	3580499	rs9268301	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	C6orf10	rs9268301-A	0.438	2E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
612	chr6_qbl_hap6	3582415	3582416	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
612	chr6_qbl_hap6	3582415	3582416	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
612	chr6_qbl_hap6	3582415	3582416	rs2395148	18576341	Behrens EM	2008-06-24	Arthritis Rheum	Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.	Arthritis (juvenile idiopathic)	67 European ancestry cases, 1,952 European ancestry controls, 63 cases	NA	6p21.32	HLA-DRB1	rs2395148-?	NR	2E-10		5.37	[3.02-9.56]	Illumina [524684]	N
612	chr6_qbl_hap6	3586229	3586230	rs13196329	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.32	C6orf10	rs13196329-C	0.02	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
612	chr6_qbl_hap6	3597061	3597062	rs3129934	22457343	Martinelli-Boneschi F	2012-03-28	Mult Scler	A genome-wide association study in progressive multiple sclerosis.	Multiple sclerosis	197 European ancestry cases, 234 European ancestry controls	379 European ancestry cases, 398 European ancestry controls	6p21.32	C6orf10	rs3129934-T	0.10	7E-16		2.34	[1.90-2.87]	Affymetrix [277866]	N
612	chr6_qbl_hap6	3597061	3597062	rs3129934	18941528	Comabella M	2008-10-22	PLoS One	Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.	Multiple sclerosis	242 European ancestry cases, 242 European ancestry controls	553 European ancestry cases, 1,033 European ancestry controls	6p21.32	HLA-DRB1	rs3129934-T	NR	9E-11		3.3	[2.3-4.9]	Affymetrix [428867]	N
612	chr6_qbl_hap6	3597640	3597641	rs3129939	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs3129939-G	0.1772	2E-40		2.6	[NR]	Illumina [242824]	N
612	chr6_qbl_hap6	3598506	3598507	rs2273017	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.32	MHC	rs2273017-A	0.51	2E-22		1.53	[1.40-1.66]	Perlegen [268068]	N
612	chr6_qbl_hap6	3599563	3599564	rs3129943	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	C6orf10	rs3129943-T	0.62	3E-15		1.17	[1.12-1.21]	Illumina [458847]	N
612	chr6_qbl_hap6	3599943	3599944	rs2050190	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	6p21.32	C6orf10	rs2050190-A	NR	7E-7		0.2528	[0.17-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_qbl_hap6	3602220	3602221	rs9268402	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6p21.32	BTNL2, C6orf10	rs9268402-G	0.59	3E-15		1.16	[1.12-1.20]	Affymetrix [~ 2200000] (imputed)	N
612	chr6_qbl_hap6	3606148	3606149	rs7758128	21326295	Jin Y	2011-02-17	J Invest Dermatol	Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.	Vitiligo	1,339 European ancestry cases	677 European ancestry cases	6p21.32	BTNL2, C6orf10	rs7758128-A	0.06	8E-11				Illumina [520460]	N
612	chr6_qbl_hap6	3619128	3619129	rs3117099	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.32	other genes, MHC	rs3117099-?	NR	3E-6		1.25	[NR]	Affymetrix [745006]	N
612	chr6_qbl_hap6	3619371	3619372	rs3117098	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	BTNL2	rs3117098-G	0.25	5E-12		1.16	[1.11-1.21]	Illumina [458847]	N
612	chr6_qbl_hap6	3624072	3624073	rs1980493	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	BTNL2	rs1980493-G	NR	2E-20		2.5034		Illumina [514008]	N
612	chr6_qbl_hap6	3624072	3624073	rs1980493	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	BTNL2	rs1980493-G	0.1656	1E-48		2.87	[NR]	Illumina [242824]	N
612	chr6_qbl_hap6	3624072	3624073	rs1980493	19287509	Cui J	2009-03-14	Mol Med	Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.	Anti-cyclic Citrullinated Peptide Antibody	531 European ancestry cases	849 European ancestry cases	6p21.32	HLA-DRA, BTNL2	rs1980493-?	0.13	5E-7				Affymetrix [97248]	N
612	chr6_qbl_hap6	3624673	3624674	rs2076530	22936702	Hofmann S	2012-08-30	Eur Respir J	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.	Sarcoidosis	637 European ancestry cases, 1,233 European ancestry controls	3,121 European ancestry cases, 4,284 European ancestry controls	6p21.32	BTNL2	rs2076530-?	NR	3E-11	(Chronic)			Affymetrix [677619]	N
612	chr6_qbl_hap6	3624701	3624702	rs9268480	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	BTNL2	rs9268480-G	0.91	3E-6		1.82	[1.43-2.33]	Illumina [513923]	N
612	chr6_qbl_hap6	3624812	3624813	rs2076529	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p21.32	BTNL2	rs2076529-C	0.43	4E-7		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
612	chr6_qbl_hap6	3628944	3628945	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	BTNL2	rs3817963-?	NR	8E-6	(OCB positive vs. controls)	1.52	[1.27-1.79]	Illumina [495970]	N
612	chr6_qbl_hap6	3628944	3628945	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	BTNL2	rs3817963-?	NR	6E-10		1.61	[1.38-1.87]	Illumina [495970]	N
612	chr6_qbl_hap6	3628944	3628945	rs3817963	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-A	0.315	1E-8		1.3	[1.18-1.42]	Illumina [431618]	N
612	chr6_qbl_hap6	3628944	3628945	rs3817963	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-G	0.318	3E-10		1.18	[1.12-1.24]	Illumina [538166]	N
612	chr6_qbl_hap6	3631440	3631441	rs9461741	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.32	BTNL2	rs9461741-C	0.018	4E-15		2.66	[2.08-3.39]	Illumina [611856]	N
612	chr6_qbl_hap6	3634085	3634086	rs10947261	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs10947261-T	0.294	3E-12		1.36	[1.25-1.49]	Illumina [5664371] (imputed)	N
612	chr6_qbl_hap6	3634165	3634166	rs10947262	20305777	Nakajima M	2010-03-18	PLoS One	New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.	Knee osteoarthritis	899 Japanese ancestry cases, 3,396 Japanese ancestry controls	167 Japanese ancestry cases, 347 Japanese ancestry controls, 813 European ancestry  cases, 1,071 European ancestry controls,	6p21.32	HLA-DQA2, HLA-DQB1, BTNL2	rs10947262-T	0.42	5E-9		1.31	[1.20-1.44]	Illumina [459393]	N
612	chr6_qbl_hap6	3634562	3634563	rs3806156	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p21.32	HLA-DRA, BTNL2, HLA-DQA1	rs3806156-T	0.37	7E-19		1.42	[1.32-1.54]	Illumina [520460]	N
612	chr6_qbl_hap6	3636837	3636838	rs3763309	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	6p21.32	HLA-DRB1	rs3763309-?		2E-124		2.3	[2.14-2.46]	Affymetrix, Illumina [1831729] (imputed)	N
612	chr6_qbl_hap6	3637212	3637213	rs3763312	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.32	BTNL2, HLA-DRA	rs3763312-A	0.15	6E-6	(Han)	0.4002	unit decrease	Illumina [up to 528294]	N
612	chr6_qbl_hap6	3637335	3637336	rs3763313	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.32	NOTCH4, BTNL2	rs3763313-?	NR	2E-6	(progression)			Illumina [NR]	N
612	chr6_qbl_hap6	3637652	3637653	rs3763317	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRB	rs3763317-C	0.37	9E-66	(Serum level of C4)	0.12	[0.10-0.14] g/L increase	Illumina [1940245] (imputed)	N
612	chr6_qbl_hap6	3640355	3640356	rs9268516	23028483	Ramasamy A	2012-09-28	PLoS One	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Asthma	1,716 European ancestry cases, 16,888 European ancestry controls	4,035 European ancestry cases, 11,251 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268516-T	0.24	1E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 2200000] (imputed)	N
612	chr6_qbl_hap6	3640602	3640603	rs9405098	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs9405098-A	0.253	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
612	chr6_qbl_hap6	3642602	3642603	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.517	2E-11		0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_qbl_hap6	3642602	3642603	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5158	5E-8	(women)	0.0241	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_qbl_hap6	3642602	3642603	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5154	4E-6	(men)	0.0223	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_qbl_hap6	3642602	3642603	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.511	4E-11	(EA)	0.0226	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_qbl_hap6	3642602	3642603	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5107	2E-7	(EA, women)	0.0237	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_qbl_hap6	3642602	3642603	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5106	5E-6	(EA, men)	0.0226	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
612	chr6_qbl_hap6	3643921	3643922	rs4959027	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.32	TAP2, HLA-DRA	rs4959027-G	0.82	9E-7	(Pubertal growth)	0.09	[0.057-0.123] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
612	chr6_qbl_hap6	3643979	3643980	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
612	chr6_qbl_hap6	3643979	3643980	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
612	chr6_qbl_hap6	3645592	3645593	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
612	chr6_qbl_hap6	3645592	3645593	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
612	chr6_qbl_hap6	3648680	3648681	rs2395163	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	6p21.32	LOC642072	rs2395163-?	NR	3E-11		1.24	[NR]	Illumina [2500000] (imputed)	N
612	chr6_qbl_hap6	3650014	3650015	rs116869525	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA-DRB1*08:03	rs116869525-T	0.083	1E-8	(trend)	4.16	[2.50-6.90] (allelic)	Affymetrix [522980]	N
612	chr6_qbl_hap6	3650519	3650520	rs3135363	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DR	rs3135363-?	NR	8E-7		1.51	[1.28-1.78]	Illumina [588026]	N
612	chr6_qbl_hap6	3650519	3650520	rs3135363	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3135363-C	0.702	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
612	chr6_qbl_hap6	3650519	3650520	rs3135363	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DR	rs3135363-?	NR	7E-22		1.53	[1.35-1.74]	Illumina [455508]	N
612	chr6_qbl_hap6	3650519	3650520	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
612	chr6_qbl_hap6	3650519	3650520	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
612	chr6_qbl_hap6	3653840	3653841	rs3135350	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	6p21.32	NOTCH4, HLA-DRA, BTNL2	rs3135350-G	0.046	9E-8	(Gliadin)	0.51	[NR] unit increase	Illumina [944565] (imputed)	N
612	chr6_qbl_hap6	3661951	3661952	rs3129860	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3129860-A	0.231	1E-9		1.36	[1.22-1.49]	Illumina [431618]	N
612	chr6_qbl_hap6	3662089	3662090	rs3135338	20159113	Jakkula E	2010-02-12	Am J Hum Genet	Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.	Multiple sclerosis	68 Finland founder cases, 136 Finland founder controls	83 Finland founder cases, 365 Finland founder controls 3,285 European ancestry cases, 6,379 European ancestry controls, 1,202 cases, 3,399 controls	6p21.32	HLA	rs3135338-A	0.13	2E-25		3.43	[NR]	Illumina [297343]	N
612	chr6_qbl_hap6	3667210	3667211	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRA	rs3129871-?	NR	1E-16	(OCB positive vs. controls)	1.98	[1.68-2.32]	Illumina [495970]	N
612	chr6_qbl_hap6	3667210	3667211	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	HLA-DRA	rs3129871-?	NR	6E-15		1.72	[1.59-1.86]	Illumina [495970]	N
612	chr6_qbl_hap6	3669392	3669393	rs9268645	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	6p21.32	MHC	rs9268645-?	NR	1E-100				Affymetrix, Illumina [841622] (imputed)	N
613	chr6_qbl_hap6	3670395	3670396	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	5E-10	(Sporadic)	1.38	[1.24-1.52]	Illumina [811597]	N
613	chr6_qbl_hap6	3670395	3670396	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	3E-8		1.31	[1.19-1.43]	Illumina [811597]	N
613	chr6_qbl_hap6	3670395	3670396	rs3129882	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRA	rs3129882-?	0.44	2E-27	(ATA positive)	2.17	[1.88-2.50]	Illumina [NR] (imputed)	N
613	chr6_qbl_hap6	3670395	3670396	rs3129882	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	6p21.32	HLA-DRA	rs3129882-G	0.40	2E-10		1.26	[1.17-1.35]	Illumina [811597]	N
613	chr6_qbl_hap6	3672511	3672512	rs7192	22541561	Zhao H	2012-04-26	Am J Hum Genet	A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.	Non-obstructive azoospermia	802 Han Chinese ancestry cases, 1,863 Han Chinese ancestry controls	1,424 Han Chinese ancestry cases, 2,713 Han Chinese ancestry controls	6p21.32	HLA-DRA	rs7192-T	0.26	3E-6		1.29	[NR]	Affymetrix, Illumina [912924]	N
613	chr6_qbl_hap6	3673308	3673309	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	3E-17		0.045	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_qbl_hap6	3673308	3673309	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	1E-21		0.048	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_qbl_hap6	3673308	3673309	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	2E-15		1.83	[1.36-2.3] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_qbl_hap6	3673308	3673309	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	4E-19		2.31	[1.78-2.84] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_qbl_hap6	3673924	3673925	rs3135388	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
613	chr6_qbl_hap6	3673924	3673925	rs3135388	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p21.32	HLA-DRB1	rs3135388-A	0.22	4E-225		2.75	[2.46-3.07]	Affymetrix, Illumina [~ 2560000] (imputed)	N
613	chr6_qbl_hap6	3673924	3673925	rs3135388	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	6p21.32	HLA-DRA	rs3135388-A	0.23	9E-81		1.99	[1.84-2.15]	Affymetrix [334923]	N
613	chr6_qbl_hap6	3674332	3674333	rs2227139	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p21.32	intergenic	rs2227139-G	NR	1E-7	(WBC)	0.02	[0.01-0.03] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
613	chr6_qbl_hap6	3674418	3674419	rs3129889	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3129889-G	0.20	1E-206		2.97	[NR]	Affymetrix, Illumina [2529394]	N
613	chr6_qbl_hap6	3675145	3675146	rs3129890	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DRA	rs3129890-T	0.61	5E-13		1.15	[1.11-1.20]	Illumina [458847]	N
613	chr6_qbl_hap6	3685785	3685786	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.72	1E-10	(East Asian)	1.3	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_qbl_hap6	3685785	3685786	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	2E-38		1.41	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_qbl_hap6	3685785	3685786	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	1E-30	(EA)	1.49	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_qbl_hap6	3689191	3689192	rs6903608	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	6p21.32	HLA class II, HLA class I	rs6903608-C	0.30	7E-31		1.64	[1.51-1.78]	Affymetrix, Illumina [1004829] (imputed)	N
613	chr6_qbl_hap6	3689191	3689192	rs6903608	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	6p21.32	NR	rs6903608-G	0.27	5E-27		1.62	[NR]	Illumina [296129]	N
613	chr6_qbl_hap6	3689191	3689192	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_qbl_hap6	3689191	3689192	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_qbl_hap6	3689191	3689192	rs6903608	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	6p21.32	HLA-DRA	rs6903608-G	0.27	3E-50		1.7	[1.58-1.82]	Illumina [504374]	N
613	chr6_qbl_hap6	3689678	3689679	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250	(EA)	2.47	[2.39-2.55]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_qbl_hap6	3689678	3689679	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250		2.28	[2.22-2.34]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_qbl_hap6	3689678	3689679	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.44	2E-145	(East Asian)	1.9	[1.81-1.99]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_qbl_hap6	3690549	3690550	rs9268853	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	MHC	rs9268853-T	0.64	3E-6		1.37	[1.20-1.56]	Illumina [581060]	N
613	chr6_qbl_hap6	3690549	3690550	rs9268853	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	BTLN2, HLA-DRA, HLA-DRB5, HLA-DRB1	rs9268853-C	NR	2E-10	(FL)	1.56	[NR]	Affymetrix [530583]	N
613	chr6_qbl_hap6	3690549	3690550	rs9268853	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9268853-T	0.66	1E-55		1.4	[1.34-1.47]	Affymetrix, Illumina [~ 1100000] (imputed)	N
613	chr6_qbl_hap6	3690625	3690626	rs9268856	24943344	Ferrari R	2014-07-01	Lancet Neurol	Frontotemporal dementia and its subtypes: a genome-wide association study.	Frontotemporal dementia	1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls	690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2	rs9268856-C	0.748	6E-9	(All Frontotemporal dementia)	1.24	[1.16-1.32]	Illumina [6026385] (imputed)	N
613	chr6_qbl_hap6	3692054	3692055	rs9268877	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	6p21.32	MHC	rs9268877-?	NR	4E-23				Affymetrix [NR]	N
613	chr6_qbl_hap6	3692054	3692055	rs9268877	18836448	Franke A	2008-10-05	Nat Genet	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.	Ulcerative colitis	1,167 European ancestry cases, 777 European ancestry controls	1,855 European ancestry cases, 3,091 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268877-T	0.45	6E-18		1.45	[1.33-1.58]	Affymetrix [355262]	N
613	chr6_qbl_hap6	3692987	3692988	rs9268905	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	6p21.32	HLA-DRA	rs9268905-C	0.32	1E-7				Illumina [~ 2609000] (imputed)	N
613	chr6_qbl_hap6	3693745	3693746	rs9268923	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	6p21.32	HLA-DRA	rs9268923-C	0.67	4E-15		1.45	[1.33-1.59]	Affymetrix [1897764] (imputed)	N
613	chr6_qbl_hap6	3694077	3694078	rs2395185	25186300	Terao C	2014-09-03	Arthritis Rheumatol	An association between anti-nuclear antibody and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study.	Antinuclear antibody levels	3,185 Japanese ancestry individuals	3,963 Japanese ancestry individuals	6p21.32	HLA-DRA, HLA-DRB5	rs2395185-?	NR	1E-11		0.25	unit increase	Illumina [303506]	N
613	chr6_qbl_hap6	3694077	3694078	rs2395185	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	6p21.32	HLA class II	rs2395185-T	0.35	1E-8		1.17	[1.11-1.23]	Illumina [596032]	N
613	chr6_qbl_hap6	3694077	3694078	rs2395185	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.32	HLA-DRA	rs2395185-?	NR	4E-31	(Total cHL)	1.82	[1.67-2.00]	Illumina [502514]	N
613	chr6_qbl_hap6	3694077	3694078	rs2395185	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	6p21.32	C6orf10, BTNL2, HLA	rs2395185-G	NR	9E-23		1.49	[NR]	Illumina [266047]	N
613	chr6_qbl_hap6	3694077	3694078	rs2395185	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	intergenic	rs2395185-G	0.61	5E-22		1.92	[1.68-2.19]	Illumina [513923]	N
613	chr6_qbl_hap6	3694077	3694078	rs2395185	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, BTNL2, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs2395185-?	0.67	1E-16		1.52		Illumina [280748]	N
613	chr6_qbl_hap6	3705107	3705108	rs12194148	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs12194148-?	NR	5E-58	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
613	chr6_qbl_hap6	3705453	3705454	rs12195582	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	6p21.32	HLA	rs12195582-T	0.465	5E-100		1.78	[1.69-1.88]	Illumina [up to 21554489]	N
613	chr6_qbl_hap6	3707626	3707627	rs7453498	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	6p21.32	intergenic	rs7453498-C	0.8656	3E-6	(Complete)	0.8142	[0.47-1.16] unit increase	Affymetrix, Illumina [NR] (imputed)	N
613	chr6_qbl_hap6	3709508	3709509	rs7748270	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	MHC	rs7748270-T	0.525	4E-13	(all cases vs. all controls)	1.7361	[NR]	Affymetrix [3441843] (imputed)	N
613	chr6_qbl_hap6	3709508	3709509	rs7748270	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	MHC	rs7748270-T	0.525	1E-16	(ACPA+ cases vs. all controls)	2.01	[NR]	Affymetrix [3441843] (imputed)	N
613	chr6_qbl_hap6	3759407	3759408	rs3828840	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3828840-?	NR	5E-15	(OCB positive vs. controls)	1.94	[1.64-2.29]	Illumina [495970]	N
613	chr6_qbl_hap6	3789763	3789764	rs17885382	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	HLA-DRB1	rs17885382-T		3E-6		1.627		Affymetrix [NR]	N
614	chr6_qbl_hap6	3807134	3807135	rs477515	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DRA, BTNL2, HLA-DRB1, C6orf10	rs477515-T	0.442	3E-19		2.05	[1.75-2.41]	Illumina [588026]	N
614	chr6_qbl_hap6	3807134	3807135	rs477515	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	HLA-DRB1	rs477515-T	0.32	3E-13	(Quantitative)	0.28	[NR] unit decrease	Illumina [944565]	N
614	chr6_qbl_hap6	3807134	3807135	rs477515	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	6p21.32	HLA-DQA1	rs477515-?	0.69	1E-8		1.38	[1.23-1.54]	Illumina [NR]	N
614	chr6_qbl_hap6	3809392	3809393	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
614	chr6_qbl_hap6	3809392	3809393	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
614	chr6_qbl_hap6	3810604	3810605	rs9270965	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9270965-?	NR	5E-12		1.72	[NR]	Affymetrix [603382]	N
614	chr6_qbl_hap6	3810762	3810763	rs602875	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs602875-A	0.68	5E-27		1.61	[1.39-1.61]	Illumina [491883]	N
614	chr6_qbl_hap6	3811132	3811133	rs9270984	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6p21.32	HLA-DRB1	rs9270984-T	0.18	5E-24		1.73		Illumina [2100739] (imputed)	N
614	chr6_qbl_hap6	3811201	3811202	rs9270986	25643325	Renton AE	2015-04-01	JAMA Neurol	A Genome-wide Association Study of Myasthenia Gravis.	Myasthenia gravis	972 European ancestry cases, 1,977 European ancestry controls	423 European ancestry cases, 467 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9270986-A	0.15	6E-8		1.43	[NR]	Illumina [8114394] (imputed)	N
614	chr6_qbl_hap6	3811312	3811313	rs615672	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	HLA-DRB1	rs615672-?	NR	8E-27				Affymetrix [469557]	N
614	chr6_qbl_hap6	3812826	3812827	rs3021304	25108386	Hou S	2014-08-10	Nat Genet	Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.	Vogt-Koyanagi-Harada syndrome	774 Han Chinese ancestry cases, 2,009 Han Chinese ancestry controls	764 Han Chinese ancestry cases, 3594 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3021304-G	0.346	1E-118		2.97	[2.71-3.26]	Affymetrix, Illumina [2208258] (imputed)	N
614	chr6_qbl_hap6	3812903	3812904	rs9461776	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	HLA-DQA1, HLA-DRB1	rs9461776-G	0.29	7E-9		2.02	[NR]	Illumina [899641]	N
614	chr6_qbl_hap6	3813644	3813645	rs9271100	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs9271100-T	0.217	8E-95		1.68	[NR]	Illumina [4577171] (imputed)	N
614	chr6_qbl_hap6	3813644	3813645	rs9271100	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs9271100-?	NR	1E-12		1.9	[1.59-2.27]	Illumina [493955]	N
614	chr6_qbl_hap6	3813961	3813962	rs9271117	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9271117-?	NR	6E-14		1.75	[NR]	Affymetrix [603382]	N
614	chr6_qbl_hap6	3814544	3814545	rs660895	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p21.32	NR	rs660895-G	0.259	1E-10		1.289	[1.184-1.402]	Illumina [3792949] (imputed)	N
614	chr6_qbl_hap6	3814544	3814545	rs660895	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs660895-G	0.24	4E-20		1.34	[1.26-1.42]	Illumina [444882]	N
614	chr6_qbl_hap6	3814544	3814545	rs660895	17804836	Plenge RM	2007-09-05	N Engl J Med	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.	Rheumatoid arthritis	1,522 European ancestry cases, 1,850 European ancestry controls	1,053 European ancestry cases, 1,858 European ancestry controls	6p21.32	HLA-DRB1	rs660895-?	0.21	1E-108		3.62	[NR]	Illumina [297086]	N
614	chr6_qbl_hap6	3815245	3815246	rs674313	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DRB5	rs674313-T	0.26	7E-9		1.69	[1.41-2.01]	Affymetrix [827777]	N
614	chr6_qbl_hap6	3815693	3815694	rs9271192	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	6p21.32	HLA-DRB5, HLA-DRB1	rs9271192-C	0.276	3E-12		1.11	[1.08-1.18]	Illumina [7055881] (imputed)	N
614	chr6_qbl_hap6	3816198	3816199	rs9271209	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.32	NR	rs9271209-?	NR	2E-85	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
614	chr6_qbl_hap6	3819070	3819071	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-6	(LYM)	1.29	[1.16-1.43]	Affymetrix [530583]	N
614	chr6_qbl_hap6	3819070	3819071	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-12	(FL)	1.93	[NR]	Affymetrix [530583]	N
614	chr6_qbl_hap6	3819070	3819071	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	2E-8	(NHL)	1.37	[1.23-1.54]	Affymetrix [530583]	N
614	chr6_qbl_hap6	3819070	3819071	rs4530903	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs4530903-?	NR	5E-6	(Negative/disorganized symptoms)	0.0919	[NR] unit increase	Affymetrix [696491]	N
614	chr6_qbl_hap6	3820921	3820922	rs9271348	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271348-?		5E-7		1.2821	[NR]	Illumina [452367]	N
614	chr6_qbl_hap6	3824037	3824038	rs9271366	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9271366-A	0.888	5E-12		1.66	[1.44-1.92]	Illumina [5664371] (imputed)	N
614	chr6_qbl_hap6	3824037	3824038	rs9271366	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271366-G	0.11	1E-18		2.1	[1.78-2.48]	Illumina [581060]	N
614	chr6_qbl_hap6	3824037	3824038	rs9271366	21699788	Okada Y	2011-06-20	Gastroenterology	HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.	Ulcerative colitis or Crohn's disease	372 Japanese ancestry Crohn's disease cases, 372 Japanese ancestry ulcerative colitis cases	607 Japanese ancestry Crohn's disease cases, 376 Japanese ancestry ulcerative colitis cases	6p21.32	MHC, HLA-DRB1	rs9271366-C	0.21	2E-70	(UC vs. CD)	4.44	[3.74-5.27]	Illumina [461368]	N
614	chr6_qbl_hap6	3824037	3824038	rs9271366	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-?	0.85	3E-33		7.69	[5.26-11.11]	Illumina [2057134] (imputed)	N
614	chr6_qbl_hap6	3824037	3824038	rs9271366	20598377	Nischwitz S	2010-06-30	J Neuroimmunol	Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.	Multiple sclerosis	590 European ancestry cases, 825 European ancestry controls	NA	6p21.32	DQA1	rs9271366-G	NR	4E-17		2.62	[2.09-3.28]	Illumina [~ 300000]	N
614	chr6_qbl_hap6	3824037	3824038	rs9271366	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-G	0.15	7E-184		2.78	[NR]	Illumina [302098]	N
614	chr6_qbl_hap6	3826449	3826450	rs35597309	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	6p21.32	HLA	rs35597309-A	0.072	1E-7		1.19	[1.12-1.27]	Affymetrix, Illumina [7556215] (imputed)	N
614	chr6_qbl_hap6	3828120	3828121	rs3129763	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3129763-?	0.25	1E-11	(ATA positive)	1.65	[1.42-1.91]	Illumina [NR] (imputed)	N
614	chr6_qbl_hap6	3828148	3828149	rs9271588	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1, c6orf10, BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB6	rs9271588-T	0.532	9E-37		1.75	[1.59-1.89]	Affymetrix [556134]	N
614	chr6_qbl_hap6	3829381	3829382	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DRB1	rs9271640-A	NR	5E-12		1.56	[1.38-1.77]	NR [485522]	N
614	chr6_qbl_hap6	3829381	3829382	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
614	chr6_qbl_hap6	3829381	3829382	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
614	chr6_qbl_hap6	3829381	3829382	rs9271640	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA1	rs9271640-?	NR	2E-20	(OCB positive vs. controls)	2.37	[1.97-2.84]	Illumina [495970]	N
614	chr6_qbl_hap6	3832085	3832086	rs9271858	23291585	Fakiola M	2013-01-06	Nat Genet	Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.	Leishmaniasis (visceral)	989 Indian ancestry cases, 1,089 Indian ancestry controls, 357 Brazilian ancestry cases, 1,613 Brazilian ancestry unaffected relatives	951 Indian ancestry cases, 990 Indian ancestry controls	6p21.32	HLA, HLA-DRB1, HLA-DQA1	rs9271858-G	0.39	3E-17		1.41	[1.30-1.52]	Illumina [521134]	N
614	chr6_qbl_hap6	3836833	3836834	rs9272105	22807686	Li S	2012-07-12	PLoS Genet	GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.	Hepatocellular carcinoma	1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers	4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.45	5E-22		1.28	[1.22-1.35]	NR [523663]	N
614	chr6_qbl_hap6	3836833	3836834	rs9272105	21502966	Weber F	2011-04-19	Pharmacogenomics J	Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-&#x003b2; therapy in multiple sclerosis patients.	Response to interferon beta therapy	178 European ancestry antibody-positive individuals, 184 European ancestry antibody-negative individuals	350 European ancestry antibody-positive individuals, 468 European ancestry antibody-negative individuals	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.44	4E-10		0.26	[NR] unit increase	Illumina [~ 317000]	N
614	chr6_qbl_hap6	3837635	3837636	rs9272143	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9272143-?	NR	3E-22		1.49	[1.37-1.61]	Illumina [632668]	N
614	chr6_qbl_hap6	3839109	3839110	rs9272219	19571809	Shi J	2009-07-01	Nature	Common variants on chromosome 6p22.1 are associated with schizophrenia.	Schizophrenia	2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls	5,327 European ancestry cases, 16,424 European ancestry controls	6p21.32	HLA-DQA1	rs9272219-G	0.72	7E-8	(EA)	1.14	[NR]	Affymetrix [up to 843798]	N
614	chr6_qbl_hap6	3839839	3839840	rs2040406	20453840	Sanna S	2010-05-09	Nat Genet	Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.	Multiple sclerosis	882 Sardinian cases, 872 Sardinian controls	1,775 Sardinian cases, 2,005 Sardinian controls	6p21.32	HLA-DQB1, HLA-DRB	rs2040406-G	0.26	1E-20		2.05	[NR]	Affymetrix [6607266] (imputed)	N
614	chr6_qbl_hap6	3841217	3841218	rs9272346	23181788	Lasky-Su J	2012-12-04	Clin Exp Allergy	HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.	Asthma	Up to 1,238 European ancestry cases, up to 2,617 European ancestry controls	Up to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents	6p21.32	HLA-DQA1	rs9272346-?	NR	2E-8	(Adult)			Affymetrix [455089]	N
614	chr6_qbl_hap6	3841217	3841218	rs9272346	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	6p21.32	HLA	rs9272346-G	NR	6E-129				Affymetrix [up to 335565]	N
614	chr6_qbl_hap6	3841217	3841218	rs9272346	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	6p21.32	MHC	rs9272346-G	0.61	5E-134		5.49	[4.83-6.24]	Affymetrix [469557]	N
614	chr6_qbl_hap6	3842735	3842736	rs2187668	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	NR	1E-9				Affymetrix [up to 700598]	N
614	chr6_qbl_hap6	3842735	3842736	rs2187668	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-T	0.107	4E-10		2.93	[2.18-3.95]	Affymetrix [906600]	N
614	chr6_qbl_hap6	3842735	3842736	rs2187668	24768677	de Boer YS	2014-04-23	Gastroenterology	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	Autoimmune hepatitis type-1	649 European ancestry cases, 13,436 European ancestry controls	451 European ancestry cases, 4,103 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	0.15	2E-78		2.9	[2.60-3.40]	Illumina [254006]	N
614	chr6_qbl_hap6	3842735	3842736	rs2187668	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DR3	rs2187668-A	0.12	6E-28	(anti-dsDNA +)	2.23	[1.94-2.57]	Illumina [421318] (imputed)	N
614	chr6_qbl_hap6	3842735	3842736	rs2187668	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	HLA-DQA1	rs2187668-A	0.1297	8E-93		4.32	[NR]	Illumina [242824]	N
614	chr6_qbl_hap6	3842735	3842736	rs2187668	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs2187668-A	0.13	2E-33		2.53	[2.17-2.95]	Illumina [2057134] (imputed)	N
614	chr6_qbl_hap6	3842735	3842736	rs2187668	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs2187668-A	0.26	1E-50		6.23	[5.95-6.52]	Illumina [292387]	N
614	chr6_qbl_hap6	3842735	3842736	rs2187668	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.11	3E-21				Illumina [502033]	N
614	chr6_qbl_hap6	3842735	3842736	rs2187668	17558408	van Heel DA	2007-06-10	Nat Genet	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.	Celiac disease	778 European ancestry cases, 1,422 European ancestry controls	991 European ancestry cases, 1,489 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.14	1E-19		7.04	[6.08-8.15]	Illumina [310605]	N
614	chr6_qbl_hap6	3843680	3843681	rs9272535	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DQA1	rs9272535-A	0.27	9E-8		1.61	[1.35-1.92]	Affymetrix [827777]	N
614	chr6_qbl_hap6	3849305	3849306	rs6927022	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DQA1	rs6927022-A	0.535	5E-133		1.444	[1.387-1.503]	Affymetrix, Illumina [1230000] (imputed)	N
614	chr6_qbl_hap6	3857602	3857603	rs9273349	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	6p21.32	HLA-DQ	rs9273349-C	0.58	7E-14		1.18	[1.13-1.24]	Illumina [582892]	N
614	chr6_qbl_hap6	3857863	3857864	rs7744020	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs7744020-A	0.272	8E-9		1.9	year decrease	Affymetrix [603382]	N
614	chr6_qbl_hap6	3858005	3858006	rs9273363	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	6p21.32	HLA	rs9273363-A	0.27	2E-10		1.24	[NR]	Illumina [549934]	N
614	chr6_qbl_hap6	3858044	3858045	rs6906021	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.45	2E-12		1.15	[1.11-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
614	chr6_qbl_hap6	3858044	3858045	rs6906021	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.4749	7E-15		0.0945	[0.071-0.118] unit increase	Illumina [2400000] (imputed)	N
614	chr6_qbl_hap6	3858332	3858333	rs9273373	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	6p21.32	HLA-DQB1	rs9273373-G	0.54	4E-14		1.24	[1.17-1.30]	Illumina [up to 4972397] (imputed)	N
614	chr6_qbl_hap6	3859437	3859438	rs1063355	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DQA1	rs1063355-A	NR	2E-6		1.43	[1.23-1.66]	Illumina [480391]	N
614	chr6_qbl_hap6	3860153	3860154	rs2854275	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	PSORS1C1, BAT2, EHMT2, HLA-DQB1, C6orf15, BAT4, NOTCH4, PRRT1, HLA-B	rs2854275-T	0.064	2E-10	(Conditional on rs477515 - Quantitative)	0.45	[NR] unit decrease	Illumina [944565]	N
614	chr6_qbl_hap6	3864926	3864927	rs9274407	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA		HLA-DRB1-DQB1	rs9274407-?	NR	5E-14		3.1	[2.30-4.20]	Illumina [822927]	N
614	chr6_qbl_hap6	3865814	3865815	rs9274477	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA		NR	rs9274477-G	0.292	2E-8		1.82	year decrease	Affymetrix [603382]	N
614	chr6_qbl_hap6	3868102	3868103	rs9274623	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs9274623-G	NR	6E-19		1.1363636	[NR]	Illumina [7158791] (imputed)	N
614	chr6_qbl_hap6	3883645	3883646	rs17212223	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs17212223-T	0.191	3E-8		1.95	year decrease	Affymetrix [603382]	N
614	chr6_qbl_hap6	3887324	3887325	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
614	chr6_qbl_hap6	3887324	3887325	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
614	chr6_qbl_hap6	3889542	3889543	rs3129716	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQB1	rs3129716-?	NR	4E-9				Affymetrix [up to 700598]	N
614	chr6_qbl_hap6	3889684	3889685	rs7774434	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	6p21.32	MHC	rs7774434-C	0.38	4E-34		1.6	[1.48-1.73]	Illumina [507467]	N
614	chr6_qbl_hap6	3889684	3889685	rs7774434	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	6p21.32	HLA-DQB1	rs7774434-C	0.371	3E-26		1.75	[NR]	Illumina [276459]	N
614	chr6_qbl_hap6	3890185	3890186	rs7775228	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	6p21.32	HLA region	rs7775228-C	0.13	2E-9		1.33	[1.21-1.45]	Affymetrix, Illumina [2217510] (imputed)	N
614	chr6_qbl_hap6	3890185	3890186	rs7775228	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQB1	rs7775228-A	0.63	5E-15		1.17	[1.12-1.21]	Illumina [458847]	N
614	chr6_qbl_hap6	3890416	3890417	rs9469220	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQB1	rs9469220-G	NR	2E-7		0.09	[0.05-0.12] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
614	chr6_qbl_hap6	3890416	3890417	rs9469220	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	6p21.32	NR	rs9469220-A	0.48	2E-6		1.14	[0.98-1.32]	Affymetrix [469557]	N
614	chr6_qbl_hap6	3891982	3891983	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.59	8E-14	(East Asian)	1.38		Illumina [> 1000000] (imputed)	N
614	chr6_qbl_hap6	3891982	3891983	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-30		1.36	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_qbl_hap6	3891982	3891983	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-18	(EA)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_qbl_hap6	3895739	3895740	rs3129720	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQB1	rs3129720-?	NR	5E-15	(OCB positive vs. controls)	1.91	[1.62-2.24]	Illumina [495970]	N
614	chr6_qbl_hap6	3895739	3895740	rs3129720	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQB1, HLA-DRB9, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs3129720-C	0.764	5E-7		1.16	(1.10-1.23)	Illumina [870065]	N
614	chr6_qbl_hap6	3895959	3895960	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
614	chr6_qbl_hap6	3895959	3895960	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1	rs6457617-A	NR	7E-17		0.127	[NR] unit decrease	NR [485236]	N
614	chr6_qbl_hap6	3895959	3895960	rs6457617	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DRB1, DQA1, DQB1	rs6457617-T	0.45	7E-33		1.4	[1.32-1.48]	Illumina [486049]	N
614	chr6_qbl_hap6	3895959	3895960	rs6457617	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.32	HLA, DQB1	rs6457617-T	0.50	2E-37		1.61	[1.49-1.72]	Illumina [489814]	N
614	chr6_qbl_hap6	3895959	3895960	rs6457617	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	6p21.32	HLA-DQB1	rs6457617-?	0.53	4E-17		1.37	[1.28-1.47]	Illumina [279621]	N
614	chr6_qbl_hap6	3895959	3895960	rs6457617	18668548	Julia A	2008-08-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.	Rheumatoid arthritis	400 European ancestry cases, 400 European ancestry controls	410 European ancestry cases, 394 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQA1	rs6457617-?	NR	1E-9				Illumina [299918]	N
614	chr6_qbl_hap6	3895959	3895960	rs6457617	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	MHC	rs6457617-T	0.49	5E-75		2.36	[1.97-2.84]	Affymetrix [469557]	N
614	chr6_qbl_hap6	3896107	3896108	rs6457620	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.32	HLA locus	rs6457620-C	0.51	2E-16		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
614	chr6_qbl_hap6	3896107	3896108	rs6457620	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	6p21.32	HLA-DRB1	rs6457620-?	0.50	4E-186		2.55	[2.40-2.71]	Affymetrix, Illumina [at least 315971] (imputed)	N
614	chr6_qbl_hap6	3896566	3896567	rs2647012	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	intergenic	rs2647012-?	NR	3E-7	(Additive)	1.52	[1.3-1.75]	Affymetrix, Illumina [1621689] (imputed)	N
614	chr6_qbl_hap6	3896566	3896567	rs2647012	21533074	Smedby KE	2011-04-21	PLoS Genet	GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma.	Follicular lymphoma	379 European ancestry cases, 791 European ancestry controls	1,049 European ancestry cases, 3,952 European ancestry controls	6p21.32	HLA-DQB1	rs2647012-G	0.56	2E-21		1.56	[1.43-1.72]	Illumina [298168]	N
614	chr6_qbl_hap6	3896566	3896567	rs2647012	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQA1	rs2647012-A	0.44	8E-6	(case-only)	1.38	[1.20-1.59]	Illumina [421318] (imputed)	N
614	chr6_qbl_hap6	3897068	3897069	rs9357152	21896673	Chen D	2011-09-10	Hum Mol Genet	Genome-wide association study of HPV seropositivity.	HPV seropositivity	1,286 European ancestry lung cancer cases, 679 European ancestry head and neck cancer cases, 811 European ancestry kidney cancer cases, 2,035 European ancestry controls	1,307 Hispanic head and neck cancer cases, 1,037 Hispanic controls	6p21.32	HLA-DQB1	rs9357152-G	0.33	1E-14				Illumina [316015]	N
614	chr6_qbl_hap6	3897068	3897069	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
614	chr6_qbl_hap6	3897068	3897069	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
614	chr6_qbl_hap6	3897528	3897529	rs10484561	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.32	HLA-DQB1	rs10484561-G	0.11	1E-29	(FL)	1.95	[1.72-2.22]	Illumina [312768]	N
614	chr6_qbl_hap6	3898403	3898404	rs9275319	23242368	Jiang DK	2012-12-16	Nat Genet	Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.	Hepatocellular carcinoma (hepatitis B virus related)	1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls	4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls	6p21.32	HLA-DQ	rs9275319-A	0.88	3E-17		1.49	[1.36-1.63]	Illumina [1672517] (imputed)	N
614	chr6_qbl_hap6	3898768	3898769	rs9275326	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	6p21.32	HLA-DQB	rs9275326-C	0.906	1E-12		1.21	[1.16-1.26]	Illumina [7893274] (imputed)	N
614	chr6_qbl_hap6	3900010	3900011	rs2647044	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.32	HLA-DQB1	rs2647044-G	NR	6E-6	(FEV1/FVC)	0.044	[0.024-0.064] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
614	chr6_qbl_hap6	3900010	3900011	rs2647044	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	6p21.32	HLA-DRB1	rs2647044-A	0.13	1E-16		8.3	[6.97-9.89]	Illumina [543071]	N
614	chr6_qbl_hap6	3900201	3900202	rs2647045	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647045-?	NR	4E-10	(FL)	1.69	[NR]	Affymetrix [530583]	N
614	chr6_qbl_hap6	3900437	3900438	rs2647046	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647046-?	NR	2E-6	(NHL)	1.25	[1.14-1.37]	Affymetrix [530583]	N
614	chr6_qbl_hap6	3901256	3901257	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.75	1E-7	(ATA positive)	1.61	[1.35-1.92]	Illumina [NR] (imputed)	N
614	chr6_qbl_hap6	3901256	3901257	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.25	3E-54	(ACA positive)	2.38	[2.13-2.67]	Illumina [NR] (imputed)	N
614	chr6_qbl_hap6	3901473	3901474	rs11752643	21971053	Takeuchi F	2011-10-05	Eur J Hum Genet	Genome-wide association study of coronary artery disease in the Japanese.	Coronary heart disease	806 Japanese ancestry cases, 1,337 Japanese ancestry controls	3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls	6p21.32	HLA, DRB-DQB	rs11752643-T	0.06	5E-7		1.26	[1.15-1.38]	Illumina [451382]	N
614	chr6_qbl_hap6	3901867	3901868	rs2647050	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	HLA-DQB1	rs2647050-T	NR	1E-6	(Perc15, All)	1.6	[0.66-2.54] unit increase	Illumina [7600000] (imputed)	N
614	chr6_qbl_hap6	3902055	3902056	rs9275406	23918589	Negi S	2013-12-01	Arthritis Rheum	A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians.	Rheumatoid arthritis	706 North Indian ancestry cases, 761 North Indian ancestry controls	927 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1, C6orf10, HLA-DQA1	rs9275406-T	0.17	3E-12		2.1	[1.72-2.68]	Illumina [559348]	N
614	chr6_qbl_hap6	3902349	3902350	rs2856718	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB1	rs2856718-C	0.55	7E-28		1.28	[1.22-1.33]	Illumina [3680900] (imputed)	N
614	chr6_qbl_hap6	3902349	3902350	rs2856718	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs2856718-?	NR	2E-24		1.6	[1.46-1.75]	Illumina [719265]	N
614	chr6_qbl_hap6	3902349	3902350	rs2856718	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DQB1	rs2856718-A	0.48	4E-37		1.56	[1.45-1.67]	Illumina [423627]	N
614	chr6_qbl_hap6	3902402	3902403	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.77	5E-10	(East Asian)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_qbl_hap6	3902402	3902403	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	5E-8	(EA)	1.21	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_qbl_hap6	3902402	3902403	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	1E-15		1.27	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_qbl_hap6	3903197	3903198	rs13192471	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	6p21.32	HLA-DRB1	rs13192471-G	0.22	2E-58		1.97	[1.82-2.14]	Illumina [393217]	N
614	chr6_qbl_hap6	3903342	3903343	rs1794275	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DQA/B	rs1794275-A	0.15	3E-13		1.3	[1.21-1.39]	Illumina [444882]	N
614	chr6_qbl_hap6	3906830	3906831	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945894807901907	8E-6	(IGP1)	0.3014	[0.17-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
614	chr6_qbl_hap6	3906830	3906831	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945736455079007	1E-6	(IGP19)	0.3272	[0.2-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
614	chr6_qbl_hap6	3906830	3906831	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945425811930783	3E-7	(IGP41)	0.3448	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
614	chr6_qbl_hap6	3907202	3907203	rs9275524	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	intergenic	rs9275524-T		2E-7	(Modelling analysis)	1.07	[1.04-1.09]	NR [1252901] (imputed)	N
614	chr6_qbl_hap6	3907563	3907564	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	7E-14	(ACPA+ cases vs. all controls)	3.015	[NR]	Affymetrix [3441843] (imputed)	N
614	chr6_qbl_hap6	3907563	3907564	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	3E-12	(all cases vs. all controls)	2.608	[NR]	Affymetrix [3441843] (imputed)	N
614	chr6_qbl_hap6	3907563	3907564	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	2E-13	(ACPA- cases vs. all controls)	2.869	[NR]	Affymetrix [3441843] (imputed)	N
614	chr6_qbl_hap6	3909980	3909981	rs9275563	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275563-?	NR	6E-11	(OCB positive vs. controls)	1.75	[1.47-2.04]	Illumina [495970]	N
614	chr6_qbl_hap6	3910665	3910666	rs4273729	23420232	Duggal P	2013-02-19	Ann Intern Med	Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.	Chronic hepatitis C infection	1,482 chronic HCV cases, 919 spontaneously cleared HCV cases	461 chronic HCV cases, 284 spontaneously cleared HCV cases	6p21.32	HLA	rs4273729	NR	5E-17		1.59		Illumina [792721] (imputed)	N
614	chr6_qbl_hap6	3911067	3911068	rs9275572	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-A	0.4	5E-16		1.74	[1.64-1.85]	Illumina [NR]	N
614	chr6_qbl_hap6	3911067	3911068	rs9275572	24376798	Miki D	2013-12-20	PLoS One	HLA-DQB1*03 confers susceptibility to chronic hepatitis C in Japanese: a genome-wide association study.	Chronic hepatitis C infection	481 Japanese ancestry cases, 2,963 Japanese ancestry controls	5,737 Japanese ancestry cases, 26,931 Japanese ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs9275572-T	0.359	4E-16		1.27	[1.19-1.33]	Illumina [458207]	N
614	chr6_qbl_hap6	3911067	3911068	rs9275572	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.32	HLA-DQ, HLA-DR	rs9275572-A	0.36	6E-9		1.3	[1.19-1.42]	Illumina [432703]	N
614	chr6_qbl_hap6	3911067	3911068	rs9275572	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-G	0.59	1E-35		2.21	[1.98-2.47]	Illumina [463301]	N
614	chr6_qbl_hap6	3912644	3912645	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Pack-years)	1.0E-4	[-0.00014-0.00025] unit decrease	NR [~ 2500000] (imputed)	N
614	chr6_qbl_hap6	3912644	3912645	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Ever-smoking)	0.001	[-0.04016-0.04216] unit decrease	NR [~ 2500000] (imputed)	N
614	chr6_qbl_hap6	3912996	3912997	rs7765379	25383971	Dunstan SJ	2014-11-10	Nat Genet	Variation at HLA-DRB1 is associated with resistance to enteric fever.	Enteric fever	432 Vietnamese ancestry cases, 2,011 Vietnamese ancestry controls	151 Vietnamese ancestry cases,  668 Vietnamese ancestry controls, 595 Nepalese ancestry cases, 386 Nepalese ancestry controls	6p21.32	HLA-DRB1, HLA-DQB1	rs7765379-A	0.945	2E-13		4.55	[2.94-6.67]	Illumina [709725]	N
614	chr6_qbl_hap6	3912996	3912997	rs7765379	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	HLA-DQA2, HLA-DOB, HLA-DQB1, PSMB9, HLA-DRB1, HLA-DQA1	rs7765379-G	NR	9E-59		1.93	[1.78-2.09]	Illumina [4929034] (imputed)	N
614	chr6_qbl_hap6	3912996	3912997	rs7765379	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	6p21.32	HLA-DRB1	rs7765379-?		5E-23		2.51	[NR]	Illumina [441398]	N
614	chr6_qbl_hap6	3913345	3913346	rs2858331	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQA2	rs2858331-G	NR	6E-6				Affymetrix, Illumina [NR] (imputed)	N
614	chr6_qbl_hap6	3913345	3913346	rs2858331	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p21.32	HLA-DQA2	rs2858331-G	NR	1E-8		0.04	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
614	chr6_qbl_hap6	3913423	3913424	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.763	6E-6		0.016	[0.0089-0.0227] kg/m2 increase	Affymetrix, Illumina [2550021]	N
614	chr6_qbl_hap6	3913423	3913424	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.76	9E-6	(EA)	0.016	[0.009-0.0232] kg/m2 increase	Affymetrix, Illumina [2550021]	N
614	chr6_qbl_hap6	3913699	3913700	rs9275596	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Peanut allergy	316 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 589 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	62 European ancestry child cases, 69 European ancestry child controls, 24 child cases, 58 child controls	6p21.32	HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DQA2	rs9275596-C	0.35	6E-11	(EA)	1.7	[1.40-2.10]	Illumina [6459842] (imputed)	N
614	chr6_qbl_hap6	3913699	3913700	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.8	1E-19	(East Asian)	1.69	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_qbl_hap6	3913699	3913700	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	3E-31		1.44	[NR]	Illumina [> 1000000] (imputed)	N
614	chr6_qbl_hap6	3913699	3913700	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	2E-15	(EA)	1.35		Illumina [> 1000000] (imputed)	N
614	chr6_qbl_hap6	3913699	3913700	rs9275596	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1, HLA-DQA1	rs9275596-?	0.73 (EA)	2E-26		1.59	[NR]	Illumina [498322]	N
614	chr6_qbl_hap6	3913737	3913738	rs6935723	25217962	Heap GA	2014-09-14	Nat Genet	HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.	Response to thiopurine immunosuppressants in inflammatory bowel disease (pancreatitis) (azathioprine and mercaptopurine)	172 European ancestry cases, 2,035 European ancestry controls	78 European ancestry cases, 472 controls	6p21.32	HLA region	rs6935723-C	0.27	1E-21		2.46	[2.04-2.98]	Affymetrix, Illumina [2819700] (imputed)	N
614	chr6_qbl_hap6	3913744	3913745	rs3104402	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs3104402-A	NR	6E-6		0.165	[0.094-0.236] unit decrease	Affymetrix [736996]	N
614	chr6_qbl_hap6	3914205	3914206	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
614	chr6_qbl_hap6	3914205	3914206	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
614	chr6_qbl_hap6	3917620	3917621	rs3916765	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p21.32	HLA-DQA2	rs3916765-A	0.12	1E-6	(Lean)	1.21	[1.12-1.31]	NR [NR]	N
614	chr6_qbl_hap6	3920025	3920026	rs9275698	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQA2	rs9275698-T	0.79	5E-12		1.18	[1.12-1.24]	Illumina [458847]	N
614	chr6_qbl_hap6	3929860	3929861	rs2859113	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs2859113-C	0.378328302013423	6E-8	(IGP59)	0.1817	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
614	chr6_qbl_hap6	3932155	3932156	rs2858884	20711174	Hor H	2010-08-15	Nat Genet	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	Narcolepsy	562 European ancestry cases, 702 European ancestry controls	370 cases, 495 controls	6p21.32	HLA-DQA2	rs2858884-A	0.81	3E-8		1.79	[1.45-2.17]	Affymetrix [392949]	N
615	chr6_qbl_hap6	3939375	3939376	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQA2	rs9276370-T	0.076	2E-12		1.95	[1.62-2.34]	Illumina [456262]	N
615	chr6_qbl_hap6	3939375	3939376	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_qbl_hap6	3956036	3956037	rs7756516	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_qbl_hap6	3957314	3957315	rs2301271	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2	rs2301271-T	0.40	2E-12	(anti-dsDNA -)	1.47	[1.32-1.63]	Illumina [421318] (imputed)	N
615	chr6_qbl_hap6	3958926	3958927	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.346381764494382	2E-8	(IGP42)	0.1909	[0.12-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
615	chr6_qbl_hap6	3958926	3958927	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.34601888034188	4E-8	(IGP2)	0.1853	[0.12-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
615	chr6_qbl_hap6	3962134	3962135	rs7453920	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-A	0.88	1E-60		2.0	[1.82-2.17]	Illumina [3680900] (imputed)	N
615	chr6_qbl_hap6	3962134	3962135	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.051	7E-15		2.31	[1.87-2.85]	Illumina [456262]	N
615	chr6_qbl_hap6	3962134	3962135	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
615	chr6_qbl_hap6	3962134	3962135	rs7453920	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.87	5E-37		1.8868	[1.69-2.08]	Illumina [490610]	N
615	chr6_qbl_hap6	3962134	3962135	rs7453920	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs7453920-?	NR	7E-26		2.0	[1.72-2.27]	Illumina [719265]	N
615	chr6_qbl_hap6	3962134	3962135	rs7453920	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2	rs7453920-?	NR	5E-6	(LYM)	1.19	[1.11-1.3]	Affymetrix [530583]	N
615	chr6_qbl_hap6	3962134	3962135	rs7453920	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HAL-DQB2	rs7453920-G	0.83	6E-28		1.81	[1.62-2.01]	Illumina [423627]	N
615	chr6_qbl_hap6	3962208	3962209	rs2051549	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	6p21.32	HLA-DQA2	rs2051549-?	NR	3E-22				Illumina [737984]	N
615	chr6_qbl_hap6	3968812	3968813	rs9276606	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs9276606-T	0.15	3E-22	(Serum level of C4)	0.09	[0.070-0.110] g/L decrease	Illumina [1940245] (imputed)	N
615	chr6_qbl_hap6	3973981	3973982	rs2621416	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2, TAP2	rs2621416-G	NR	2E-9	(FL)	1.57	[NR]	Affymetrix [530583]	N
615	chr6_qbl_hap6	4029878	4029879	rs2228391	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA	rs2228391-C	0.108	4E-7	(trend)	3.32	[2.02-5.46] (allelic)	Affymetrix [522980]	N
615	chr6_qbl_hap6	4029981	4029982	rs241436	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p21.32	TAP2	rs241436-G	0.49	8E-6	(men)	0.089	[0.05-0.128] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
615	chr6_qbl_hap6	4030836	4030837	rs1015166	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	TAP2	rs1015166-T	NR	4E-22		2.1428		Illumina [514008]	N
615	chr6_qbl_hap6	4036175	4036176	rs241428	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs241428-G	0.08	9E-83	(Serum level of C4)	0.23	[0.21-0.25] g/L increase	Illumina [1940245] (imputed)	N
615	chr6_qbl_hap6	4041954	4041955	rs9357155	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	TAP2, TAP1, PSMB8, PSMB9	rs9357155-?	0.87 (EA)	2E-12		1.41	[NR]	Illumina [498322]	N
615	chr6_qbl_hap6	4043735	4043736	rs2071543	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	PSMB9, TAP1, TAP2, PSMB8	rs2071543-G	0.80	2E-9	(East Asian)	1.41	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_qbl_hap6	4084752	4084753	rs2187689	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	PSMB9	rs2187689-C	0.08	3E-8		0.23	[0.15-0.31] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4086798	4086799	rs10046257	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10046257-A	0.10	3E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4087818	4087819	rs6457690	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6457690-A	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4088482	4088483	rs1029296	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029296-C	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4088583	4088584	rs1029295	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029295-C	0.10	5E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4089035	4089036	rs6936004	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6936004-C	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4089520	4089521	rs10214886	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10214886-A	0.10	2E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4091813	4091814	rs7744666	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs7744666-C	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4091849	4091850	rs11969002	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs11969002-A	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4092853	4092854	rs9469300	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs9469300-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4094708	4094709	rs3749982	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs3749982-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
616	chr6_qbl_hap6	4145371	4145372	rs1480380	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	NR	rs1480380-C	0.908	6E-7	(Modelling analysis)			NR [1252901] (imputed)	N
616	chr6_qbl_hap6	4145371	4145372	rs1480380	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs1480380-T	0.0877	4E-39		3.05	[NR]	Illumina [242824]	N
616	chr6_qbl_hap6	4146851	4146852	rs73396800	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs73396800-G	NR	4E-16		1.1904762	[NR]	Illumina [7158791] (imputed)	N
616	chr6_qbl_hap6	4147976	4147977	rs16871226	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs16871226-G	0.0244821228239845	2E-6	(IGP67)	0.5182	[0.3-0.73] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_qbl_hap6	4185416	4185417	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.87438328769575	7E-6	(IGP59)	0.2057	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_qbl_hap6	4185416	4185417	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874270331235955	2E-6	(IGP42)	0.2151	[0.13-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_qbl_hap6	4185416	4185417	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874157767431399	5E-6	(IGP2)	0.2092	[0.12-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_qbl_hap6	4185416	4185417	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873857556055831	6E-6	(IGP16)	0.2057	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_qbl_hap6	4185416	4185417	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873550828800713	6E-6	(IGP61)	0.206	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_qbl_hap6	4185416	4185417	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873514573726542	3E-6	(IGP58)	0.2131	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_qbl_hap6	4185416	4185417	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.872971129118433	6E-7	(IGP65)	0.2253	[0.14-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_qbl_hap6	4193500	4193501	rs9500927	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DOA	rs9500927-T	0.26	4E-9		1.13	[1.09-1.18]	Illumina [458847]	N
617	chr6_qbl_hap6	4204496	4204497	rs3128935	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	6p21.32	HLA-DOA	rs3128935-T	0.97	9E-6	(Age 20-60 years)	2.28	[1.59-3.28]	Affymetrix, Illumina [up to 17585496] (imputed)	N
617	chr6_qbl_hap6	4205691	4205692	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	White wine liking	381 Carlantino individuals, 744 Friuli Venezia Giulia individuals, 1,115 Val Borbera individuals	1,261 Erasmus Rucphen Family individuals, 335 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	2E-8		0.0539	[NR] unit increase	Illumina [9969492] (imputed)	N
617	chr6_qbl_hap6	4205691	4205692	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	Red wine liking	398 Carlantino individuals, 751 Friuli Venezia Giulia individuals, 1,122 Val Borbera individuals	1,246 Erasmus Rucphen Family individuals, 353 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	8E-6		0.0419	[NR] unit increase	Illumina [6967159] (imputed)	N
617	chr6_qbl_hap6	4207026	4207027	rs378352	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DOA	rs378352-T	0.39	1E-23		1.26	[1.20-1.31]	Illumina [3680900] (imputed)	N
617	chr6_qbl_hap6	4207106	4207107	rs399604	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.32	HLA-DOA	rs399604-C	NR	1E-10		2.346	[1.63-3.06] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
617	chr6_qbl_hap6	4265472	4265473	rs3077	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPA1	rs3077-A	0.66	1E-53		1.45	[1.39-1.52]	Illumina [3680900] (imputed)	N
617	chr6_qbl_hap6	4265472	4265473	rs3077	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs3077-?	NR	5E-39		1.89	[1.69-2.08]	Illumina [719265]	N
617	chr6_qbl_hap6	4265472	4265473	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	4E-45	(Protective effects against CHB)	1.82	[1.67-1.96]	Affymetrix [597789]	N
617	chr6_qbl_hap6	4265472	4265473	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	1E-9	(Clearance of HBV)	1.67	[1.43-2.0]	Affymetrix [597789]	N
617	chr6_qbl_hap6	4265472	4265473	rs3077	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPA1	rs3077-G	0.60	2E-61		1.87	[1.73-2.01]	Illumina [423627]	N
617	chr6_qbl_hap6	4275330	4275331	rs987870	21814517	Noguchi E	2011-07-21	PLoS Genet	Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.	Asthma	938 Japanese ancestry cases, 2,376 Japanese ancestry controls	1653 East Asian ancestry cases, 1453 East Asian ancestry controls	6p21.32	HLA, DPB1	rs987870-C	0.14	2E-10		1.4	[1.26-1.55]	Illumina [450326]	N
617	chr6_qbl_hap6	4275330	4275331	rs987870	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1	rs987870-?	0.15	2E-20	(ATA positive)	2.09	[1.78-2.45]	Illumina [NR] (imputed)	N
617	chr6_qbl_hap6	4281117	4281118	rs1042151	23180272	Park BL	2012-11-21	Hum Genet	Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.	Aspirin exacerbated respiratory disease in asthmatics	117 Korean ancestry cases, 685 Korean ancestry controls	142 Korean ancestry cases, 996 Korean ancestry controls	6p21.32	HLA-DPB1	rs1042151-G	0.083	5E-7		2.4	[1.68-3.42]	Illumina [430486]	N
617	chr6_qbl_hap6	4287313	4287314	rs9277535	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-A	0.58	1E-70		1.52	[1.45-1.59]	Illumina [3680900] (imputed)	N
617	chr6_qbl_hap6	4287313	4287314	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.251	5E-14		1.59	[1.41-1.79]	Illumina [456262]	N
617	chr6_qbl_hap6	4287313	4287314	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
617	chr6_qbl_hap6	4287313	4287314	rs9277535	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs9277535-?	NR	4E-40		1.89	[1.72-2.08]	Illumina [719265]	N
617	chr6_qbl_hap6	4287313	4287314	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-21	(Protective effects against CHB)	1.64	[1.47-1.82]	Affymetrix [597789]	N
617	chr6_qbl_hap6	4287313	4287314	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-17	(Clearance of HBV)	1.52	[1.37-1.67]	Affymetrix [597789]	N
617	chr6_qbl_hap6	4287313	4287314	rs9277535	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DPB1	rs9277535-?	NR	3E-12		1.39	[1.23-1.59]	Illumina [455508]	N
617	chr6_qbl_hap6	4287313	4287314	rs9277535	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.57	3E-54		1.77	[1.65-1.91]	Illumina [423627]	N
617	chr6_qbl_hap6	4287313	4287314	rs9277535	19349983	Kamatani Y	2009-04-06	Nat Genet	A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.	Hepatitis B	179 Japanese ancestry cases, 934 Japanese ancestry controls	1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls	6p21.32	HLA-DPB1	rs9277535-G		6E-39		1.75	[1.61-1.92]	Illumina [499544]	N
617	chr6_qbl_hap6	4287990	4287991	rs9277554	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	6p21.32	HLA-DOA, HSD17B8, RING1, COL11A2, RXRB, HLA-DPB1*04, HLA-DPB1, HLA-DPB2	rs9277554-C	0.708	2E-50		4.17	[3.33-5.00]	Illumina [287802]	N
617	chr6_qbl_hap6	4288057	4288058	rs9277555	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	6p21.32	NR	rs9277555-G		6E-7		0.0199	[0.010-0.030] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
617	chr6_qbl_hap6	4292570	4292571	rs2281388	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DPB1	rs2281388-T	0.32	2E-65		1.64	[1.55-1.74]	Illumina [486049]	N
617	chr6_qbl_hap6	4293274	4293275	rs6928954	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	6p21.32	intergenic	rs6928954-?	0.023	1E-6		0.075	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
617	chr6_qbl_hap6	4302345	4302346	rs3117242	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	6p21.32	HLA-DP, COL11A2	rs3117242-?	NR	1E-71		3.67	[NR]	Affymetrix [NR]	N
617	chr6_qbl_hap6	4304626	4304627	rs4282438	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	COL11A2, HLA-DPB1, HLA-DPA1	rs4282438-G	0.3546	9E-25		1.58	[1.45-1.72]	Affymetrix [556134]	N
617	chr6_qbl_hap6	4304626	4304627	rs4282438	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	HLA-DPB2	rs4282438-?	0.56	5E-27	(Stringently Matched)	1.35	[1.27-1.41]	Affymetrix [563339]	N
617	chr6_qbl_hap6	4314761	4314762	rs733208	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Thyroid peroxidase antibody positivity	377 Korean ancestry cases, 3,019 Korean ancestry anti-TPO controls	108 Korean ancestry cases, 734 Korean ancestry controls	6p21.32	HLA-DPB2	rs733208-A	0.30	4E-7		1.435	[1.30-1.57]	Affymetrix [1418709] (imputed)	N
617	chr6_qbl_hap6	4318740	4318741	rs3117035	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	6p21.32	intergenic	rs3117035-A	0.48	1E-6		0.14	[0.08-0.20] unit decrease	Illumina [~ 318327]	N
617	chr6_qbl_hap6	4318939	4318940	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs1883414-G	0.68	2E-11		1.22	[NR]	Illumina [> 1000000] (imputed)	N
617	chr6_qbl_hap6	4318939	4318940	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB1, HLA-DPA1, HLA-DPB2	rs1883414-G	0.68	5E-7	(EA)	1.2	[NR]	Illumina [> 1000000] (imputed)	N
617	chr6_qbl_hap6	4318939	4318940	rs1883414	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1, HLA-DPB2	rs1883414-?	0.67 (EA)	5E-9		1.28	[NR]	Illumina [498322]	N
617	chr6_qbl_hap6	4322126	4322127	rs3117027	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DPB2	rs3117027-?	NR	1E-7		1.25	[1.15-1.36]	Illumina [632668]	N
618	chr6_qbl_hap6	4329782	4329783	rs3129269	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs3129269-C	NR	5E-7	(East Asian)	1.29	[NR]	Illumina [> 1000000] (imputed)	N
618	chr6_qbl_hap6	4336351	4336352	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPA3	rs9366816-C	0.414	3E-10		1.43	[1.28-1.60]	Illumina [456262]	N
618	chr6_qbl_hap6	4336351	4336352	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
618	chr6_qbl_hap6	4376170	4376171	rs2254287	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	6p21.32	B3GALT4	rs2254287-G	0.38	5E-8		1.91	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
618	chr6_qbl_hap6	4436512	4436513	rs9277952	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	intergenic	rs9277952-?	0.53	2E-9	(Matched)	1.18	[1.12-1.23]	Affymetrix [563339]	N
587	chr4_ctg9_hap1	304359	304360	rs293428	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	4q13.2	UGT2B15	rs293428-A	0.69	6E-6	(Men + Women)	0.019	[0.011-0.027] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
587	chr4_ctg9_hap1	304359	304360	rs293428	22829776	Coviello AD	2012-07-19	PLoS Genet	A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.	Sex hormone-binding globulin levels	21,791 European ancestry individuals	8,175 European ancestry individuals	4q13.2	UGT2B15	rs293428-A	0.69	3E-8	(Men)	0.029	[0.019-0.039] umol/L decrease	Affymetrix, Illumina [2543887] (imputed)	N
588	chr4_ctg9_hap1	394721	394722	rs294777	25293881	Patel Y	2014-10-07	Cancer Epidemiol Biomarkers Prev	The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.	Cotinine glucuronidation	437 European ancestry current smoker individuals, 364 African American current smoker individuals, 453 Latino current smoker individuals, 674 Japanese ancestry current smoker individuals, 311 Native Hawaiian ancestry current smoker individuals	NA	4q13.2	UGT2B10	rs294777-A	NR	6E-48		0.1905	[NR] unit increase	Illumina [11892802] (imputed)	N
585	chr6_mann_hap4	79517	79518	rs4324798	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p22.1	TRNAA-UGC	rs4324798-A	0.09	2E-8		1.16	[1.09-1.24]	Illumina [515922]	N
586	chr6_mann_hap4	200315	200316	rs2015436	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	6p22.1	TRIM27	rs2015436-T	0.73	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
586	chr6_mann_hap4	219656	219657	rs4947339	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	6p22.1	TRIM27	rs4947339-T	0.438	2E-6	(epinehprine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
587	chr6_mann_hap4	387633	387634	rs3129109	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p22.1	OR2J3	rs3129109-T	0.39	2E-17		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
588	chr6_mann_hap4	484162	484163	rs9257616	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	6p22.1	OR2J2, TRIM27, ZNF311, OR2W1, OR2B3, LOC651503, OR214J1, OR5V1, OR12D3, OR2J3	rs9257616-G	0.56	3E-7		0.093	[0.058-0.128] unit increase	Illumina [~ 2500000] (imputed)	N
589	chr6_mann_hap4	547635	547636	rs144447022	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs144447022-G	NR	2E-28		1.25	[NR]	Illumina [7158791] (imputed)	N
589	chr6_mann_hap4	654907	654908	rs9378134	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	6p22.1	OR12D3	rs9378134-A	0.04	3E-6		0.49	[0.29-0.69] unit increase	Illumina [2675979] (imputed)	N
590	chr6_mann_hap4	658332	658333	rs3094548	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p22.1	OR12D2	rs3094548-G	NR	1E-7	(FEV1)	0.029	[0.019-0.039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
590	chr6_mann_hap4	659461	659462	rs9257809	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	6p22.1	OR2D12, OR2D13, MHC	rs9257809-A	0.87	4E-9		1.21	[1.13-1.28]	Illumina [521744]	N
590	chr6_mann_hap4	689983	689984	rs16894878	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.1	OR12D1P, OR11A1	rs16894878-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
590	chr6_mann_hap4	737381	737382	rs4713226	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6p22.1	OR2H1	rs4713226-A		2E-8	(AA)			Illumina [NR]	N
590	chr6_mann_hap4	764698	764699	rs1233491	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	MAS1L	rs1233491-C	0.088	8E-10		2.2	[1.58-3.08]	Affymetrix [906600]	N
591	chr6_mann_hap4	823877	823878	rs16895057	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	6p22.1	OR2I1P	rs16895057-T	0.95	3E-6		0.153	[0.088-0.218] unit increase	Affymetrix [1532051] (imputed)	N
591	chr6_mann_hap4	829379	829380	rs11970475	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p22.1	UBD	rs11970475-A	0.19	2E-24		0.07	[0.054-0.086] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
591	chr6_mann_hap4	910010	910011	rs3095267	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p22.1	intergenic	rs3095267-?	0.81	9E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
591	chr6_mann_hap4	914386	914387	rs29232	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	GABBR1	rs29232-A	0.46	9E-17		1.67	[1.48-1.88]	Illumina [480365]	N
592	chr6_mann_hap4	929279	929280	rs2252711	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.1	MOG	rs2252711-T	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
592	chr6_mann_hap4	952494	952495	rs385492	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs385492-T	NR	1E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
592	chr6_mann_hap4	966818	966819	rs3131888	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	6p22.1	NR	rs3131888-C	NR	7E-6		1.2820514	[NR]	Illumina [up to 9792010] (imputed)	N
592	chr6_mann_hap4	973209	973210	rs3129055	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-F	rs3129055-G	0.31	7E-11		1.51	[1.34-1.71]	Illumina [480365]	N
592	chr6_mann_hap4	1003026	1003027	rs2523395	22219177	Tao S	2012-01-04	Carcinogenesis	A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.	Prostate cancer (gene x gene interaction)	4,723 European ancestry cases, 4,792 European ancestry controls	NA	6p22.1	LOC285830	rs2523395-?	NR	2E-6	(rs1512268)	1.24	[1.14-1.35]	Affymetrix, Illumina [1117531] (imputed)	N
592	chr6_mann_hap4	1006165	1006166	rs2523393	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p22.1	HLA-B	rs2523393-A	0.59	1E-17		1.28	[1.18-1.39]	Affymetrix, Illumina [~ 2560000] (imputed)	N
592	chr6_mann_hap4	1023655	1023656	rs9258260	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	6p22.1	UBD, HLA-A, HLA-G, HLA-F, MOG, GABBR1, HLA-H	rs9258260-T	0.104	2E-10		1.45	[1.21-1.68]	Affymetrix, Illumina [1060934] (imputed)	N
593	chr6_mann_hap4	1128619	1128620	rs2523822	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA	6p22.1	HLA-A	rs2523822-?	NR	2E-10		2.3	[1.80-2.90]	Illumina [822927]	N
593	chr6_mann_hap4	1143897	1143898	rs2523809	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-G	rs2523809-T	NR	4E-8		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
593	chr6_mann_hap4	1166686	1166687	rs189370103	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p22.1	NR	rs189370103-?	NR	8E-6	(Native Hawaiian)	1.0607	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
594	chr6_mann_hap4	1193884	1193885	rs2524005	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p22.1	other genes, MHC	rs2524005-?	NR	5E-7		1.32	[NR]	Affymetrix [745006]	N
594	chr6_mann_hap4	1199066	1199067	rs2860580	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p22.1	HLA-A	rs2860580-?	0.62	5E-67		1.72	[1.61-1.82]	Illumina [464328]	N
594	chr6_mann_hap4	1205698	1205699	rs1061235	21428769	McCormack M	2011-03-24	N Engl J Med	HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.	Adverse response to carbamapezine	65 European ancestry cases, 3,987 European ancestry controls	80 European ancestry cases, 257 European ancestry controls		HLA-A*3101	rs1061235-?	NR	1E-7		9.12	[4.03-20.65]	Illumina [~ 1200000] (imputed)	N
594	chr6_mann_hap4	1210471	1210472	rs2517713	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-A	rs2517713-A	0.62	4E-20		1.88	[1.65-2.15]	Illumina [480365]	N
594	chr6_mann_hap4	1218935	1218936	rs9260489	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	HLA-A	rs9260489-G	0.58	2E-22		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
594	chr6_mann_hap4	1218935	1218936	rs9260489	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p22.1	HLA-B	rs9260489-T	0.45	1E-11		1.21	[NR]	Affymetrix, Illumina [2529394]	N
594	chr6_mann_hap4	1221341	1221342	rs16896742	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p22.1	HLA-A	rs16896742-G	0.38	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
594	chr6_mann_hap4	1222461	1222462	rs2571391	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-A	rs2571391-C	NR	1E-15		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
594	chr6_mann_hap4	1232746	1232747	rs6935053	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p22.1	HCG9	rs6935053-?	NR	2E-6	(Conditioned on rs9271366)			Illumina [581060]	N
594	chr6_mann_hap4	1233831	1233832	rs3893464	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs3893464-G	0.36	2E-20		1.53	[1.39-1.67]	Perlegen [268068]	N
594	chr6_mann_hap4	1240515	1240516	rs2523946	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p22.1	NR	rs2523946-C	0.511	5E-11		1.317	[1.217-1.426]	Illumina [3792949] (imputed)	N
594	chr6_mann_hap4	1240515	1240516	rs2523946	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p22.1	HLA-A	rs2523946-C	0.50	2E-11		1.21	[1.15-1.28]	Illumina [444882]	N
594	chr6_mann_hap4	1240655	1240656	rs3823355	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p22.1	HLA-A, HCG9	rs3823355-T	0.29	9E-23		1.5	[1.39-1.63]	Illumina [520460]	N
594	chr6_mann_hap4	1241647	1241648	rs6904029	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6p22.1	HLA-A29.1, HCG9	rs6904029-?		3E-6	(PC3)	0.0464	[NR] unit decrease	Illumina [4167292] (imputed)	N
594	chr6_mann_hap4	1269161	1269162	rs7758512	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	HLA-A, ZNRD1, RNF39	rs7758512-?	NR	2E-8	(progression)			Illumina [NR]	N
594	chr6_mann_hap4	1272498	1272499	rs4313034	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs4313034-T	0.83	2E-15		1.67	[1.47-1.90]	Perlegen [268068]	N
595	chr6_mann_hap4	1315679	1315680	rs6917603	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	6p22.1	PPP1R11	rs6917603-?	NR	3E-29	(XXL-VLDL-P)	0.24	[0.2-0.28] unit decrease	Illumina [~ 7700000] (imputed)	N
595	chr6_mann_hap4	1324102	1324103	rs259919	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	ZNRD1, C6orf12	rs259919-?	NR	3E-7	(setpoint)			Illumina [NR]	N
595	chr6_mann_hap4	1331113	1331114	rs8321	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs8321-?	NR	8E-9	(5 degree of freedom test)	1.081	[1.04-1.12]	NR [1252901] (imputed)	N
595	chr6_mann_hap4	1331113	1331114	rs8321	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p22.1	ZNRD1, RNF39	rs8321-G	NR	5E-7				Illumina [291119]	N
595	chr6_mann_hap4	1374424	1374425	rs2023472	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	TRIM31	rs2023472-A	0.38	3E-15		0.03	[0.022-0.038] unit increase	Affymetrix [2500000] (imputed)	N
595	chr6_mann_hap4	1376828	1376829	rs2523989	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p22.1	TRIM31	rs2523989-A	NR	2E-8		1.7499		Illumina [514008]	N
595	chr6_mann_hap4	1378921	1378922	rs34704616	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6p22.1	XXbac-BPG250I8.13	rs34704616-?	NR	6E-6	(Colorword)			Illumina [up to 563855]	N
596	chr6_mann_hap4	1441923	1441924	rs10947055	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6p22.1	TRIM38	rs10947055-?	NR	2E-7	(additive, recessive)			Affymetrix [361034]	N
596	chr6_mann_hap4	1468454	1468455	rs9468692	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	TRIM10	rs9468692-?	NR	1E-6	(setpoint)			Illumina [NR]	N
596	chr6_mann_hap4	1513771	1513772	rs2523722	22883433	Irish Schizophrenia Genomics Consortium & the Wellcome Trust Case Control Consortium 2	2012-08-07	Biol Psychiatry	Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.	Schizophrenia	1,606 European ancestry cases, 1,794 European ancestry controls	13,195 European ancestry cases, 31,021 European ancestry controls	6p22.1	MHC, TRIM26	rs2523722-G	0.737	1E-16		1.25	[1.12-1.39]	Affymetrix [6212339]	N
596	chr6_mann_hap4	1522627	1522628	rs2021722	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs2021722-?	0.789	2E-12	(Modelling analysis)			NR [1252901] (imputed)	N
596	chr6_mann_hap4	1522627	1522628	rs2021722	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	6p22.1	TRIM26	rs2021722-C	0.78	2E-12		1.15	[1.11-1.19]	Affymetrix, Illumina [1252901] (imputed)	N
596	chr6_mann_hap4	1527919	1527920	rs2844775	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6p22.1	TRIM31, TRIM10, PPP1R11, TRIM40, TRIM15, HLA-A29.1, TRIM26, HCG9, ZNRD1, RNF39	rs2844775-A	0.25	8E-7	(Temperament)	0.15	[NR] unit decrease	Affymetrix [677643]	N
597	chr6_mann_hap4	1647315	1647316	rs3094067	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	TRIM39, RPP21	rs3094067-G	0.096	2E-11		2.32	[1.68-3.20]	Affymetrix [906600]	N
597	chr6_mann_hap4	1661416	1661417	rs6986	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6p22.1	NR	rs6986-C	0.2277	5E-6	(Trans-16:1n-7, EA)	0.0079	[0.0046-0.0112] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
599	chr6_mann_hap4	1885677	1885678	rs3132613	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs3132613-C	0.25	1E-13		1.43	[1.30-1.57]	Perlegen [268068]	N
600	chr6_mann_hap4	2014763	2014764	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937946818961625	6E-7	(IGP19)	0.3471	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mann_hap4	2014763	2014764	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937725588025022	3E-6	(IGP74)	0.3262	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mann_hap4	2014763	2014764	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937641317877842	2E-6	(IGP75)	0.3304	[0.19-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mann_hap4	2014763	2014764	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937418950958538	3E-6	(IGP69)	0.3228	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mann_hap4	2014763	2014764	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937308425901202	5E-7	(IGP76)	0.3469	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_mann_hap4	2027721	2027722	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107712365538735	8E-6	(IGP65)	0.2214	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_mann_hap4	2027721	2027722	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107418420152946	8E-6	(IGP2)	0.2231	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_mann_hap4	2027721	2027722	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107325880449438	3E-6	(IGP42)	0.2336	[0.14-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_mann_hap4	2084235	2084236	rs12526186	19721433	McClay JL	2009-09-01	Mol Psychiatry	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	Response to antipsychotic treatment	494 European ancestry cases, 244 African American and other ancestry cases	NA	6p21.33	intergenic	rs12526186-?	NR	3E-6	(risperidone)	9.0	[NR] % variance	Affymetrix, Perlegen [492900]	N
600	chr6_mann_hap4	2085570	2085571	rs3094117	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p21.33	intergenic	rs3094117-?	0.77	2E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
601	chr6_mann_hap4	2111375	2111376	rs3131060	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	FLOT1	rs3131060-A	0.112	1E-13		2.3	[1.71-3.11]	Affymetrix [906600]	N
601	chr6_mann_hap4	2115029	2115030	rs4587207	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	6p21.33	FLOT1, LINC00243, IER3	rs4587207-G	0.20	2E-8	(EA)	3.14	[2.04-4.24] unit decrease	Affymetrix, Illumina [2033301]	N
601	chr6_mann_hap4	2122441	2122442	rs3130783	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	IER3, DDR1	rs3130783-A	0.79	2E-11		1.16	[1.11-1.20]	Affymetrix, Illumina [2442884] (imputed)	N
601	chr6_mann_hap4	2130086	2130087	rs886424	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	IER3, DDR1	rs886424-A	NR	3E-14		2.2107		Illumina [514008]	N
601	chr6_mann_hap4	2130086	2130087	rs886424	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.33	other genes, MHC	rs886424-?	NR	9E-7		1.37	[NR]	Affymetrix [745006]	N
601	chr6_mann_hap4	2143260	2143261	rs7772131	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	6p21.33	C6orf214	rs7772131-?	NR	3E-6	(AA)	6.73	[0.89-12.57] unit decrease	Affymetrix [~ 2300000] (imputed)	N
601	chr6_mann_hap4	2146080	2146081	rs7749924	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs7749924-C	0.851598582628062	8E-6	(IGP32)	0.2204	[0.12-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
601	chr6_mann_hap4	2147486	2147487	rs9501030	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.33	IER3, GTF2H4, FLOT1, VARS2, MIR588, DDR1	rs9501030-A	NR	4E-6	(Analysis II)			Illumina [313720]	N
601	chr6_mann_hap4	2196337	2196338	rs7756521	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	VARS2, DDR1, DPCR1	rs7756521-?	NR	1E-6	(progression)			Illumina [NR]	N
601	chr6_mann_hap4	2224230	2224231	rs1052693	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-A	rs1052693-G	0.36	3E-48	(Serum level of C4)	0.1	[0.080-0.120] g/L increase	Illumina [1940245] (imputed)	N
602	chr6_mann_hap4	2286953	2286954	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
602	chr6_mann_hap4	2286953	2286954	rs9368649	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	MUC21, DPCR1	rs9368649-A	NR	1E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
602	chr6_mann_hap4	2295581	2295582	rs3094084	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	MUC21, TRIM39, RPP21	rs3094084-T	0.154	2E-11		2.3	[1.76-3.01]	Affymetrix [906600]	N
602	chr6_mann_hap4	2350458	2350459	rs7768644	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs7768644-A	0.091	3E-13	(trend)	5.01	[3.1-8.1] (allelic)	Affymetrix [522980]	N
602	chr6_mann_hap4	2350973	2350974	rs4248154	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs4248154-C	0.54	1E-13		1.38	[1.27-1.50]	Perlegen [268068]	N
602	chr6_mann_hap4	2355212	2355213	rs2844665	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	C6orf205	rs2844665-C	0.62	3E-7		1.54	[1.30-1.82]	Illumina [268914]	N
603	chr6_mann_hap4	2365335	2365336	rs2251830	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	HCG22	rs2251830-A	0.36	5E-22		0.053	[0.041-0.065] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
603	chr6_mann_hap4	2366765	2366766	rs2517532	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.33	HLA-C, LOC729792, HCG22, C6orf15, DHFRP2, HCP5, HLA-B	rs2517532-G	0.597	1E-8		1.16	[1.10-1.22]	Illumina [870065]	N
603	chr6_mann_hap4	2366904	2366905	rs2523864	25813999	Jeong S	2015-04-01	Invest Ophthalmol Vis Sci	Identification of a Novel Mucin Gene HCG22 Associated with Steroid-Induced Ocular Hypertension.	Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)	64 European ancestry individuals	49 European ancestry individuals	6p21.33	HCG22, HLA-A, HLA-B, MUC22	rs2523864-T	0.412	5E-9				Illumina [1545328]	N
603	chr6_mann_hap4	2372951	2372952	rs9262631	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9262631-A	0.063	6E-19	(trend)	7.09	[4.32-11.63] (allelic)	Affymetrix [522980]	N
603	chr6_mann_hap4	2373158	2373159	rs9262632	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs9262632-G	0.10	1E-8	(AA)	3.1	[NR]	Illumina [1384048] (imputed)	N
603	chr6_mann_hap4	2378471	2378472	rs2517510	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs2517510-T		4E-13	(WBC)	0.0129	[0.0094-0.0164] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
603	chr6_mann_hap4	2406520	2406521	rs4947296	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	HCG22	rs4947296-?	NR	1E-11		2.57	[1.96-3.37]	Affymetrix [661736]	N
603	chr6_mann_hap4	2406520	2406521	rs4947296	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	MUC21, C6orf15	rs4947296-C	0.14	4E-51		1.77	[1.65-1.91]	Illumina [486049]	N
603	chr6_mann_hap4	2406682	2406683	rs3130544	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs3130544-A	NR	5E-7	(WBC)	0.0189	[0.011-0.026] unit decrease	Illumina [544917]	N
603	chr6_mann_hap4	2406682	2406683	rs3130544	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	6p21.33	NR	rs3130544-A	0.13	2E-90		5.64	[4.77-6.67]	Illumina [274256]	N
603	chr6_mann_hap4	2406682	2406683	rs3130544	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3130544-A	0.1238	9E-58		3.34	[NR]	Illumina [242824]	N
603	chr6_mann_hap4	2417869	2417870	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		5E-6				NR [~ 3000000] (imputed)	N
603	chr6_mann_hap4	2417869	2417870	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		2E-6				NR [~ 3000000] (imputed)	N
603	chr6_mann_hap4	2422375	2422376	rs6457327	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.33	C6orf15	rs6457327-C	0.56	7E-6	(FL)	1.47	[1.27-1.72]	Illumina [312768]	N
603	chr6_mann_hap4	2422375	2422376	rs6457327	19620980	Skibola CF	2009-07-20	Nat Genet	Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.	Follicular lymphoma	189 European ancestry cases, 592 European controls	456 European ancestry cases, 2,785 European ancestry controls	6p21.33	STG, PSORS1	rs6457327-C	0.62	5E-11		1.69	[1.43-2.00]	Illumina [~ 500000]	N
603	chr6_mann_hap4	2429550	2429551	rs2233956	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs2233956-G	0.1813	6E-48		2.77	[NR]	Illumina [242824]	N
603	chr6_mann_hap4	2434123	2434124	rs3094212	20139978	Kamatani Y	2010-02-07	Nat Genet	Genome-wide association study of hematological and biochemical traits in a Japanese population.	White blood cell count	14,677 Japanese ancestry individuals	NA	6p21.33	PSORS1C1, CDSN	rs3094212-C	0.35	7E-9		0.07	[0.046-0.094] unit increase	Illumina [561583]	N
603	chr6_mann_hap4	2440320	2440321	rs9263688	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9263688-G	0.053	5E-21	(trend)	8.06	[4.86-13.37] (allelic)	Affymetrix [522980]	N
603	chr6_mann_hap4	2441941	2441942	rs3815087	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	PSORS1C1	rs3815087-A	0.21	3E-7		1.53	[1.29-1.80]	Illumina [268914]	N
603	chr6_mann_hap4	2441941	2441942	rs3815087	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	CDSN	rs3815087-?	NR	8E-8	(progression)			Illumina [NR]	N
603	chr6_mann_hap4	2445667	2445668	rs3130559	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1	rs3130559-T	0.2	8E-9	(SP-D)			Illumina [588352]	N
603	chr6_mann_hap4	2447943	2447944	rs4959053	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	PSORS1C1	rs4959053-?	.11	2E-20		4.38	[3.20-5.99]	Affymetrix [661736]	N
603	chr6_mann_hap4	2449308	2449309	rs3823418	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	PSORS1C1	rs3823418-A	0.15	2E-7		0.026	[0.0084-0.0436] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
603	chr6_mann_hap4	2450040	2450041	rs3130564	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	PSORS1C1	rs3130564-T	0.163	4E-10		2.05	[1.56-2.70]	Affymetrix [906600]	N
603	chr6_mann_hap4	2450040	2450041	rs3130564	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	PSORS1C1	rs3130564-T	0.1934	1E-42		2.62	[NR]	Illumina [242824]	N
603	chr6_mann_hap4	2451330	2451331	rs3132565	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs3132565-A	NR	1E-9		1.07	[NR]	Illumina [7158791] (imputed)	N
603	chr6_mann_hap4	2454635	2454636	rs3130573	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.33	PSORS1C1	rs3130573-G	0.32	6E-10		1.25	[1.17-1.35]	Illumina [489814]	N
603	chr6_mann_hap4	2454826	2454827	rs1265097	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	PSORS1C1, PSORS1C2	rs1265097-A	0.115	2E-32		0.059	[0.049-0.069] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
603	chr6_mann_hap4	2455554	2455555	rs1265093	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	PSORS1C1, CCHCR1	rs1265093-A	0.26	6E-9	(SP-D)			Illumina [588352]	N
603	chr6_mann_hap4	2455625	2455626	rs2285803	23955597	Chubb D	2013-08-18	Nat Genet	Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.	Multiple myeloma	2,335 European ancestry cases, 7,306 European ancestry controls	2,357 European ancestry cases, 3,684 European ancestry controls	6p21.33	PSORS1C1, CCHCR1, TCF19, POU5F1, CDSN	rs2285803-A	0.32	1E-10		1.192	[1.13-1.26]	Illumina [414804]	N
603	chr6_mann_hap4	2459713	2459714	rs9263739	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.33	HLA	rs9263739-T	0.15	4E-67		2.73	[2.43-3.07]	Illumina [513923]	N
603	chr6_mann_hap4	2466368	2466369	rs1265112	21810746	Chantarangsu S	2011-08-01	Clin Infect Dis	Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.	Nevirapine-induced rash	72 Thai ancestry nevirapine-induced rash HIV cases, 77 Thai ancestry nevirapine-tolerant rash HIV cases	88 Thai ancestry nevirapine-induced rash HIV cases, 145 Thai ancestry nevirapine-tolerant HIV cases	6p21.33	CCHCR1	rs1265112-G	0.06	1E-8		4.36	[2.58-7.36]	Illumina [499730]	N
603	chr6_mann_hap4	2466860	2466861	rs130067	21743467	Kote-Jarai Z	2011-07-10	Nat Genet	Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.	Prostate cancer	6,621 European ancestry cases, 6,939 European ancestry controls	22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls	6p21.33	CCHCR1	rs130067-G	0.21	3E-8		1.05	[1.02-1.09]	NR [2600000] (imputed)	N
603	chr6_mann_hap4	2477652	2477653	rs7750641	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	TCF19	rs7750641-T	0.1263	3E-58		3.35	[NR]	Illumina [242824]	N
603	chr6_mann_hap4	2478935	2478936	rs1419881	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	TCF19	rs1419881-G	0.55	3E-7		1.12	[1.08-1.18]	Illumina [3680900] (imputed)	N
603	chr6_mann_hap4	2478935	2478936	rs1419881	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	TCF19	rs1419881-?	NR	1E-18		1.37	[1.23-1.52]	Illumina [719265]	N
603	chr6_mann_hap4	2483246	2483247	rs3130931	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130931-C	0.69	8E-7		1.54	[1.29-1.84]	Illumina [268914]	N
603	chr6_mann_hap4	2484811	2484812	rs3130501	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130501-G	0.74	2E-8		1.74	[1.43-2.13]	Illumina [268914]	N
603	chr6_mann_hap4	2485072	2485073	rs3132524	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p21.33	TCF19, POU5F1	rs3132524-G		4E-9		1.07	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
603	chr6_mann_hap4	2487813	2487814	rs879882	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs879882-?	NR	2E-7	(Conditioned on rs2256183)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
603	chr6_mann_hap4	2488409	2488410	rs1265159	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs1265159-T	0.2191	4E-37		2.42	[NR]	Illumina [242824]	N
604	chr6_mann_hap4	2490607	2490608	rs3094188	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.33	PSORS1C3	rs3094188-C	0.280	7E-7		1.61	[1.33-1.94]	Illumina [4929034] (imputed)	N
604	chr6_mann_hap4	2490607	2490608	rs3094188	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3094188-A	0.63	3E-8		1.59	[1.34-1.88]	Illumina [268914]	N
604	chr6_mann_hap4	2491943	2491944	rs3131018	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	PSORS1C3	rs3131018-C	0.625	4E-16	(EA)	2.1	[NR]	Illumina [1384048] (imputed)	N
604	chr6_mann_hap4	2504160	2504161	rs1265181	19169255	Zhang XJ	2009-01-25	Nat Genet	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	Psoriasis	1,139 Han Chinese ancestry cases, 1,132 Han Chinese ancestry controls	5,721 Chinese ancestry cases, 7,340 Chinese ancestry controls	6p21.33	MHC	rs1265181-?	NR	2E-208		22.62		Illumina [494902]	N
604	chr6_mann_hap4	2516420	2516421	rs6903896	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	6p21.33	NR	rs6903896-?	NR	6E-7	(sneeze)			Illumina [535076]	N
604	chr6_mann_hap4	2545904	2545905	rs3130941	24324648	Yatagai Y	2013-12-04	PLoS One	Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.	IgE levels	967 Japanese ancestry individuals, 213 Japanese ancestry asthmatic individuals	1,894 Japanese ancestry individuals, 580 Japanese ancestry asthmatic individuals	6p21.33	HCG27, HLA-C	rs3130941-C	0.25	1E-10		0.098	unit increase	Illumina [479940]	N
604	chr6_mann_hap4	2568561	2568562	rs3095254	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	6p21.33	MHC	rs3095254-C	0.461	8E-9	(Japanese)	0.035	[0.023-0.047] unit increase	Illumina [NR] (imputed)	N
604	chr6_mann_hap4	2568561	2568562	rs3095254	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs3095254-C	0.46	6E-11	(monocyte count)	0.074	[0.05-0.09] unit increase	Illumina [2178645] (imputed)	N
604	chr6_mann_hap4	2578989	2578990	rs3130542	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.16	9E-7		1.17	[1.10-1.24]	Illumina [3680900] (imputed)	N
604	chr6_mann_hap4	2578989	2578990	rs3130542	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.13	9E-14		1.33	[1.23-1.44]	Illumina [490610]	N
604	chr6_mann_hap4	2582399	2582400	rs2853953	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs2853953-A	0.9	5E-20		1.47	[1.35-1.59]	Illumina [3680900] (imputed)	N
604	chr6_mann_hap4	2585206	2585207	rs9264638	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals			HLA-C	rs9264638-A	0.58	2E-23		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
604	chr6_mann_hap4	2587310	2587311	rs2074488	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	HLA-C	rs2074488-T	0.13	2E-10	(SP-D)			Illumina [588352]	N
604	chr6_mann_hap4	2587988	2587989	rs13191343	20953186	Huffmeier U	2010-10-17	Nat Genet	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	Psoriatic arthritis	572 European ancestry cases, 888 European ancestry controls	Up to 1,761 European ancestry cases, 3,727 European ancestry controls	6p21.33	HLA-C	rs13191343-T	0.13	2E-72		2.37	[2.16-2.61]	Affymetrix [1585307] (imputed)	N
604	chr6_mann_hap4	2589027	2589028	rs2524079	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C3, HCG27, HLA-C, HLA-B	rs2524079-A		1E-11	(Lymphocytes)	0.0148	[0.010-0.019] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
604	chr6_mann_hap4	2591814	2591815	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	6E-10		0.23	[NR] unit increase	Illumina [12100000] (imputed)	N
604	chr6_mann_hap4	2591814	2591815	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	4E-10		0.25	[NR] unit increase	Illumina [12100000] (imputed)	N
604	chr6_mann_hap4	2594046	2594047	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.717	8E-6	(Japanese)	0.013	[0.0071-0.0189] unit decrease	Illumina [NR] (imputed)	N
604	chr6_mann_hap4	2594046	2594047	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.348	1E-8	(EA)	0.017	[0.011-0.023] unit decrease	Illumina [NR] (imputed)	N
604	chr6_mann_hap4	2594046	2594047	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-?	NR	3E-14		0.0139	[0.010-0.017] unit decrease	Illumina [NR] (imputed)	N
604	chr6_mann_hap4	2599237	2599238	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	6E-21	(CD8)	0.31	[0.25-0.37] SD decrease	Illumina [529721]	N
604	chr6_mann_hap4	2599237	2599238	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	2E-28	(CD4:CD8)	0.37	[0.31-0.43] SD increase	Illumina [529721]	N
604	chr6_mann_hap4	2599766	2599767	rs12191877	20953188	Ellinghaus E	2010-10-17	Nat Genet	Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.	Psoriasis	472 European ancestry cases, 1,146 European ancestry controls	2,668, European ancestry cases, 762 French Canadian founder population cases, 2,585 cases, 3,485 European ancestry controls, 994 French Canadian founder population controls, 2,412 controls	6p21.33	HLA-C	rs12191877-?	NR	4E-32		2.79	[2.35-3.33]	Illumina [2339118] (imputed)	N
604	chr6_mann_hap4	2599766	2599767	rs12191877	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	6p21.33	HLA-C	rs12191877-T	0.15	1E-100		2.64	[NR]	Perlegen [~ 2500000] (imputed)	N
604	chr6_mann_hap4	2605673	2605674	rs9468925	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA	rs9468925-?	0.617	2E-33		1.35	[1.28-1.41]	Illumina [493909]	N
604	chr6_mann_hap4	2610575	2610576	rs2894207	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.33	HLA-C, HLA-B	rs2894207-?	0.82	3E-33		1.64	[1.52-1.75]	Illumina [464328]	N
604	chr6_mann_hap4	2612320	2612321	rs2247056	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	HLA-C, HLA-B	rs2247056-T	0.27	4E-12		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
604	chr6_mann_hap4	2612320	2612321	rs2247056	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	6p21.33	HLA	rs2247056-T	0.25	2E-15		2.99	[2.17-3.81] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
604	chr6_mann_hap4	2618537	2618538	rs9461688	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6p21.33	HLA-C	rs9461688-?	0.31	4E-6	(IL18)			Illumina [496032]	N
604	chr6_mann_hap4	2619082	2619083	rs6457374	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	HLA-C	rs6457374-T	0.73	8E-35		0.041	[0.035-0.047] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
604	chr6_mann_hap4	2619142	2619143	rs9368677	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.33	HLA-C	rs9368677-G	0.798	1E-17		1.36	[1.27-1.46]	Illumina [606164]	N
604	chr6_mann_hap4	2621201	2621202	rs9264942	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.33	NR	rs9264942-?	NR	5E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
604	chr6_mann_hap4	2621201	2621202	rs9264942	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.33	PSORS1C1, NFKBIL1, HLA-C, MICB	rs9264942-C	0.378	5E-28		1.145	[1.107-1.184]	Affymetrix, Illumina [1230000] (imputed)	N
604	chr6_mann_hap4	2621201	2621202	rs9264942	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-C	rs9264942-C	0.34	3E-35	(EA)	2.9	[NR]	Illumina [1384048] (imputed)	N
604	chr6_mann_hap4	2621201	2621202	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-C	0.412	6E-32	(setpoint)	5.3	[NR] % increase	Illumina [NR]	N
604	chr6_mann_hap4	2621201	2621202	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-?	NR	6E-12	(progression)			Illumina [NR]	N
604	chr6_mann_hap4	2621395	2621396	rs10484554	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6p21.33	HLA-C	rs10484554-?	NR	4E-214		4.66	[4.23-5.13]	Illumina [535475]	N
604	chr6_mann_hap4	2621395	2621396	rs10484554	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	HLA-C	rs10484554-T	0.13	6E-8				Illumina [291119]	N
604	chr6_mann_hap4	2621395	2621396	rs10484554	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs10484554-T	0.15	2E-39		2.8	[2.40-3.30]	Illumina [305983]	N
605	chr6_mann_hap4	2658763	2658764	rs3134792	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3134792-C	0.114	6E-72		3.93	[NR]	Illumina [242824]	N
605	chr6_mann_hap4	2658763	2658764	rs3134792	18364390	Capon F	2008-03-25	Hum Mol Genet	Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.	Psoriasis	318 European ancestry cases, 288 European ancestry controls	2,361 European ancestry cases, 1,927 European ancestry controls	6p21.33	HLA-C	rs3134792-?	NR	1E-9				Illumina [~ 408000]	N
605	chr6_mann_hap4	2666991	2666992	rs2442719	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.33	HLA-C, HLA-B	rs2442719-A	0.4161	8E-7	(Han)	0.3298	unit decrease	Illumina [up to 528294]	N
605	chr6_mann_hap4	2667721	2667722	rs2596500	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs2596500-A	NR	8E-20		1.18	[NR]	Illumina [7158791] (imputed)	N
605	chr6_mann_hap4	2668821	2668822	rs3819299	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.33	HLA-B	rs3819299-G	NR	9E-10		5.048	[3.43-6.66] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr6_mann_hap4	2669013	2669014	rs2523608	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs2523608-A	0.59	9E-9		0.02	[0.012-0.028] unit increase	Affymetrix [2500000] (imputed)	N
605	chr6_mann_hap4	2669013	2669014	rs2523608	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523608-G	0.326	9E-20	(AA)	2.6	[NR]	Illumina [1384048] (imputed)	N
605	chr6_mann_hap4	2669013	2669014	rs2523608	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	6p21.33	HLA-B	rs2523608-?	0.37	3E-6				Illumina [1212217]	N
605	chr6_mann_hap4	2669244	2669245	rs2523607	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	6p21.33	HLA-B	rs2523607-A	0.120	2E-10		1.32	[1.21-1.44]	Illumina [8363971] (imputed)	N
605	chr6_mann_hap4	2670340	2670341	rs41549217	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	6p21.33	HLA-B, MICA, HCP5, HCG26	rs41549217-T	0.0288	2E-7		4.6582	[4.08-5.24]	Illumina [8809853] (imputed)	N
605	chr6_mann_hap4	2673518	2673519	rs2523590	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523590-C	0.164	2E-13	(AA)	2.4	[NR]	Illumina [1384048] (imputed)	N
605	chr6_mann_hap4	2674155	2674156	rs9378249	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	6p21.33	NR	rs9378249-?	NR	1E-8	(addtive)			Affymetrix [NR]	N
605	chr6_mann_hap4	2677703	2677704	rs2523557	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	HLA-B, MICA	rs2523557-C	0.13	9E-35		7.33	[5.34-10.07]	Illumina [1392644]	N
605	chr6_mann_hap4	2679186	2679187	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	7E-6		0.44	[0.24-0.64] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
605	chr6_mann_hap4	2679186	2679187	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	2E-7		0.29	[0.17-0.41] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
605	chr6_mann_hap4	2681786	2681787	rs17193122	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA-B*38:02	rs17193122-A	0.047	4E-27	(trend)	9.59	[5.78-15.90] (allelic)	Affymetrix [522980]	N
605	chr6_mann_hap4	2682351	2682352	rs2922994	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.33	HLA-B, TCF19	rs2922994-G	0.113	2E-9		1.64	[1.39-1.92]	Illumina [611856]	N
605	chr6_mann_hap4	2682549	2682550	rs7743761	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	6p21.33	MHC	rs7743761-?	NR	5E-304				Illumina [288662]	N
605	chr6_mann_hap4	2682867	2682868	rs9266406	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	MICA, DHFRP2, MICB	rs9266406-?	.40	2E-10		2.29	[1.77-2.95]	Affymetrix [661736]	N
605	chr6_mann_hap4	2693270	2693271	rs9266629	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	FGFR3P	rs9266629-C	0.21	4E-10	(SP-D)			Illumina [588352]	N
605	chr6_mann_hap4	2693900	2693901	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	7E-9		1.09	[1.06-1.13]	Affymetrix, Illumina [2579389] (imputed)	N
605	chr6_mann_hap4	2693900	2693901	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	1E-6	(AA)	1.11	[1.07-1.16]	Affymetrix, Illumina [2579389] (imputed)	N
605	chr6_mann_hap4	2697153	2697154	rs1521	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	HLA-B	rs1521-T	0.79	2E-65		1.92	[1.78-2.08]	Illumina [486049]	N
605	chr6_mann_hap4	2698563	2698564	rs9266772	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.33	MICA, HLA-C	rs9266772-C	0.1882	3E-12		0.104	[0.075-0.133] unit increase	Illumina [2400000] (imputed)	N
605	chr6_mann_hap4	2699779	2699780	rs2596565	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.33	MICA, HLA-B	rs2596565-?		9E-9		1.4	[NR]	Illumina [452367]	N
605	chr6_mann_hap4	2700631	2700632	rs6932730	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.33	MICA, HLA-C, HLA-B, MICB	rs6932730-T	0.82	4E-8		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr6_mann_hap4	2701009	2701010	rs13437082	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	6p21.33	HLA-B	rs13437082-?	0.13	5E-8		0.07	[0.04-0.10] s.d. decrease	Illumina [229216]	N
605	chr6_mann_hap4	2706704	2706705	rs7751505	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.33	MICA, VARS2	rs7751505-C	0.28	4E-6	(Pubertal growth)	0.07	[0.041-0.099] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr6_mann_hap4	2708752	2708753	rs16899524	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs16899524-C	0.93	1E-8		0.04	[0.026-0.054] unit increase	Affymetrix [2500000] (imputed)	N
605	chr6_mann_hap4	2711150	2711151	rs2251396	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	PSORS1C1, MICA, HCP5	rs2251396-T	NR	1E-22		2.2132		Illumina [514008]	N
605	chr6_mann_hap4	2712230	2712231	rs4349859	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	6p21.33	HLA-B	rs4349859-A	0.04	1E-200	(less than)			Illumina [2223620] (imputed)	N
605	chr6_mann_hap4	2713038	2713039	rs2596542	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.33	MICA	rs2596542-A	0.33	4E-13		1.39	[1.27-1.52]	Illumina [432703]	N
605	chr6_mann_hap4	2720696	2720697	rs2857281	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	MICA	rs2857281-C	0.081	1E-37		11.92	[8.16-17.42]	Illumina [1392644]	N
605	chr6_mann_hap4	2724019	2724020	rs12175489	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.33	HCP5, HLA-B	rs12175489-A	0.15	2E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
605	chr6_mann_hap4	2726958	2726959	rs2256183	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs2256183-A	0.45	8E-29		0.04	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
605	chr6_mann_hap4	2736838	2736839	rs2516448	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.33	MICA	rs2516448-?	NR	4E-18		1.42	[1.31-1.54]	Illumina [632668]	N
605	chr6_mann_hap4	2737829	2737830	rs4418214	23935489	McLaren PJ	2013-07-25	PLoS Pathog	Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls.	HIV-1 susceptibility	6,334 European ancestry cases, 7,247 European ancestry controls	NA	6p21.33	HLA-C, HLA-B	rs4418214-C	NR	4E-11		1.52		Affymetrix, Illumina [~ 8000000] (imputed)	N
605	chr6_mann_hap4	2737829	2737830	rs4418214	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	MICA	rs4418214-C	0.075	1E-34	(EA)	4.4	[NR]	Illumina [1384048] (imputed)	N
605	chr6_mann_hap4	2751498	2751499	rs2596466	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	MICA	rs2596466-C	0.07	2E-12		0.05	[0.034-0.066] unit decrease	Affymetrix [2500000] (imputed)	N
606	chr6_mann_hap4	2753709	2753710	rs9469003	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	HCP5	rs9469003-C	0.15	2E-9		1.73	[1.44-2.08]	Illumina [268914]	N
606	chr6_mann_hap4	2754146	2754147	rs2524276	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	6p21.33	intergenic	rs2524276-?	NR	6E-6				NR [~ 2000000]	N
606	chr6_mann_hap4	2767484	2767485	rs9267119	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs9267119-C	NR	1E-6		1.098901	[NR]	Illumina [7158791] (imputed)	N
606	chr6_mann_hap4	2815640	2815641	rs2855812	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	MICB	rs2855812-T	NR	2E-7	(FEV1)	0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_mann_hap4	2818406	2818407	rs3132468	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	6p21.33	MICB	rs3132468-?	0.13	4E-11		1.34	[1.23-1.46]	Illumina [481342]	N
606	chr6_mann_hap4	2824219	2824220	rs2516399	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs2516399-A	0.81	2E-12	(eosinophil count)	0.105	[0.08-0.14] unit increase	Illumina [2178645] (imputed)	N
606	chr6_mann_hap4	2842517	2842518	rs3853601	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	6p21.33	BAT1	rs3853601-G	0.12	2E-6		1.13	[1.08-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_mann_hap4	2848393	2848394	rs2734583	21912425	Tohkin M	2011-09-13	Pharmacogenomics J	A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.	Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)	14 Japanese ancestry cases, 991 Japanese ancestry controls	NA	6p21.33	PSORS1C1, PSORS1C3, BAT1, HLA-C, MICC, PPIAP9, POLR2LP, CCHCR1, TCF19, HLA-B*5801, HCP5, POU5F1	rs2734583-?	0.0055	2E-8		66.8	[19.8-225.0]	Illumina [890321]	N
607	chr6_mann_hap4	2885191	2885192	rs1799964	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6p21.33	HLA-DQA2, LTA, TNF, LST1, LTB	rs1799964-C	0.209	4E-11		1.19	[1.13-1.25]	Affymetrix, Illumina [953241] (imputed)	N
607	chr6_mann_hap4	2900674	2900675	rs11575839	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-C	rs11575839-A	0.05	1E-54	(Serum level of C4)	0.23	[0.21-0.25] g/L decrease	Illumina [1940245] (imputed)	N
607	chr6_mann_hap4	2911346	2911347	rs2857595	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	NFKBIL1, LTA, NCR3	rs2857595-T	NR	2E-23		2.3765		Illumina [514008]	N
607	chr6_mann_hap4	2911346	2911347	rs2857595	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	6p21.33	AIF1, HLA	rs2857595-?	0.50	2E-15		1.3	[1.22-1.39]	Affymetrix [662108]	N
607	chr6_mann_hap4	2911346	2911347	rs2857595	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	NCR3	rs2857595-?	NR	8E-8	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2911346	2911347	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	2E-10	(FEV1/FVC)	0.037	[0.025-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2911346	2911347	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	1E-6	(FEV1)	0.025	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2915831	2915832	rs2844479	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	AIF1	rs2844479-A	0.66	3E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
607	chr6_mann_hap4	2915831	2915832	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393698650943396	4E-6	(IGP60)	0.151	[0.087-0.215] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2915831	2915832	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393631380483438	4E-6	(IGP6)	0.1506	[0.086-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2915831	2915832	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393516127507802	9E-6	(IGP61)	0.1445	[0.081-0.208] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2915831	2915832	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393054780607685	7E-6	(IGP58)	0.1476	[0.083-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2915831	2915832	rs2844479	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	6p21.33	AIF1, NCR3	rs2844479-T	0.68	2E-8		3.58	[2.33-4.83] percentage SD increase	Illumina [305846]	N
607	chr6_mann_hap4	2918162	2918163	rs9348876	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	6p21.33	AIF1	rs9348876-T	0.06	3E-6		1.41	[1.22-1.63]	Illumina [508934]	N
607	chr6_mann_hap4	2931267	2931268	rs2857693	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	BAT2	rs2857693-T	0.38	3E-29		0.034	[0.028-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
607	chr6_mann_hap4	2933778	2933779	rs2736172	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	6p21.33	TNF, MICB	rs2736172-?		4E-6				Affymetrix [545513]	N
607	chr6_mann_hap4	2938765	2938766	rs1046080	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6p21.33	PRRC2A	rs1046080-A	0.74	1E-14	(X-11444/X-11470)	0.027	[0.019-0.035] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
607	chr6_mann_hap4	2944726	2944727	rs3115663	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT2	rs3115663-G	0.1812	7E-57		3.04	[NR]	Illumina [242824]	N
607	chr6_mann_hap4	2945850	2945851	rs1046089	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.33	PRRC2A, BAG6	rs1046089-G	0.34	4E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
607	chr6_mann_hap4	2945850	2945851	rs1046089	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	6p21.33	NR	rs1046089-A	0.3492	4E-11		0.1919	[0.13-0.25] years increase	NR [NR]	N
607	chr6_mann_hap4	2945850	2945851	rs1046089	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	6p21.33	PRRC2A	rs1046089-A	0.353	2E-16		0.213	[0.16-0.26] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
607	chr6_mann_hap4	2959254	2959255	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	2E-11		0.376	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2959254	2959255	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	1E-10		0.054	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2959254	2959255	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	3E-11		0.228	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_mann_hap4	2963408	2963409	rs3117582	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p21.33	APOM, BAT3	rs3117582-C	0.10	5E-12		1.22	[1.15-1.29]	Illumina [515922]	N
607	chr6_mann_hap4	2963408	2963409	rs3117582	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	6p21.33	BAT3	rs3117582-?	NR	4E-10		1.24	[1.16-1.33]	Illumina [511919]	N
607	chr6_mann_hap4	2963408	2963409	rs3117582	18978787	Wang Y	2008-11-02	Nat Genet	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.	Lung cancer	5,095 European ancestry cases, 5,200 European ancestry cases	2,448 European ancestry cases, 2,983 European ancestry controls	6p21.33	BAT3, MSH5	rs3117582-C	NR	5E-10		1.24	[1.16-1.33]	Illumina [223891]	N
607	chr6_mann_hap4	2965494	2965495	rs805297	21844665	Hu HJ	2011-08-16	Exp Mol Med	Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis.	Rheumatoid arthritis	100 Korean ancestry cases, 600 Korean ancestry controls	578 Korean ancestry cases, 711 Korean ancestry controls	6p21.33	APOM	rs805297-A	0.36	3E-10		1.56	[1.36-1.80]	Affymetrix [300909]	N
607	chr6_mann_hap4	2975023	2975024	rs3130618	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	GPANK1	rs3130618-C	0.79	2E-7		1.34	[1.20-1.49]	Illumina [8129524] (imputed)	N
607	chr6_mann_hap4	2975023	2975024	rs3130618	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT4	rs3130618-A	0.1811	2E-56		3.03	[NR]	Illumina [242824]	N
607	chr6_mann_hap4	2979631	2979632	rs9267531	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	CSNK2B	rs9267531-?	NR	8E-8				Affymetrix [up to 700598]	N
607	chr6_mann_hap4	2979631	2979632	rs9267531	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	CSNK2B, MSH5, MICA, MICB	rs9267531-G	0.1	3E-14		2.62	[1.93-3.54]	Affymetrix [906600]	N
609	chr6_mann_hap4	3169763	3169764	rs67682613	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs67682613-G	NR	7E-19		1.1494253	[NR]	Illumina [7158791] (imputed)	N
609	chr6_mann_hap4	3246609	3246610	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	C2	rs9332739-?	0.955	1E-6		2.63	[1.79-3.85]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_mann_hap4	3246609	3246610	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	C2	rs9332739-?	0.955	2E-8		2.08	[1.61-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_mann_hap4	3246609	3246610	rs9332739	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	C2	rs9332739-?	0.96	2E-23		2.17	[NR]	Affymetrix [6036699] (imputed)	N
609	chr6_mann_hap4	3248813	3248814	rs9380272	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs9380272-A	0.012	2E-8		4.31	[2.76-6.87]	Illumina [~ 2500000] (imputed)	N
609	chr6_mann_hap4	3256998	3256999	rs12614	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	CFB	rs12614-T	0.92	1E-34		1.89	[1.69-2.08]	Illumina [3680900] (imputed)	N
609	chr6_mann_hap4	3256999	3257000	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	CFB	rs641153-?	0.899	2E-9		2.13	[1.69-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_mann_hap4	3256999	3257000	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	CFB	rs641153-?	0.899	1E-17		2.22	[1.85-2.63]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_mann_hap4	3256999	3257000	rs641153	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	CFB	rs641153-?	0.90	6E-31		1.85	[NR]	Affymetrix [6036699] (imputed)	N
609	chr6_mann_hap4	3256999	3257000	rs641153	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	6p21.33	CFB, C2	rs641153-?	NR	2E-20				Affymetrix [632932]	N
609	chr6_mann_hap4	3259770	3259771	rs541862	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.33	CFB	rs541862-T	0.99	9E-17		1.89	[1.61-2.17]	Illumina [2272849] (imputed)	N
609	chr6_mann_hap4	3260359	3260360	rs4151657	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	CFB, BAT2, MSH5, HSPA1L, SLC44A4	rs4151657-G	0.29	5E-14		1.54	[1.38-1.73]	Illumina [480391]	N
610	chr6_mann_hap4	3387687	3387688	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	3E-9		0.68	[0.44-0.92] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_mann_hap4	3387687	3387688	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Hypertension	5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls	29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls	6p21.33	CYP21A2	rs2021783-C	0.79	4E-11				Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_mann_hap4	3387687	3387688	rs2021783	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	CYP21A2	rs2021783-C	0.79	2E-12		0.49	[0.35-0.63] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
610	chr6_mann_hap4	3392914	3392915	rs185819	18391951	Gudbjartsson DF	2008-04-06	Nat Genet	Many sequence variants affecting diversity of adult human height.	Height	30,968 European ancestry individuals	8,541 European ancestry individuals	6p21.33	HLA class III	rs185819-T	0.52	3E-8		5.2	[3.44-6.96] % s.d. increase	Affymetrix, Illumina [up to 304226]	N
610	chr6_mann_hap4	3393605	3393606	rs1150754	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.33	TNXB	rs1150754-A	0.13	6E-29	(anti-dsDNA +)	2.21	[1.93-2.53]	Illumina [421318] (imputed)	N
610	chr6_mann_hap4	3402711	3402712	rs1150753	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	TNXB	rs1150753-?	NR	6E-9				Affymetrix [up to 700598]	N
611	chr6_mann_hap4	3452822	3452823	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	4E-11		0.0266	[0.019-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mann_hap4	3452822	3452823	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	3E-9	(EA)	0.025	[0.017-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mann_hap4	3452822	3452823	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
611	chr6_mann_hap4	3452822	3452823	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
611	chr6_mann_hap4	3452822	3452823	rs204999	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs204999-G	0.2643	9E-40		2.44	[NR]	Illumina [242824]	N
611	chr6_mann_hap4	3457358	3457359	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196796488164359	4E-6	(IGP18)	0.1779	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_mann_hap4	3457358	3457359	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.19676420855615	4E-6	(IGP25)	0.1773	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_mann_hap4	3457358	3457359	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196432337204109	4E-8	(IGP23)	0.2111	[0.14-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_mann_hap4	3465315	3465316	rs3096696	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	PPT2	rs3096696-A		4E-6		1.478		Affymetrix [NR]	N
611	chr6_mann_hap4	3470303	3470304	rs3134950	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	6p21.32	AGPAT1, PPT2	rs3134950-A	0.625	6E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mann_hap4	3470303	3470304	rs3134950	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		6p21.32	EGFL8, AGPAT1, PPT2	rs3134950-A	NR	1E-6		0.0945	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mann_hap4	3477336	3477337	rs3096697	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	EGFL8	rs3096697-T	0.2054	1E-41		2.58	[NR]	Illumina [242824]	N
611	chr6_mann_hap4	3479370	3479371	rs1061808	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	6p21.32	AGPAT1	rs1061808-?	NR	8E-10	(proportions)	0.9	[NR] % increase	Illumina [NR] (imputed)	N
611	chr6_mann_hap4	3483310	3483311	rs3130284	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	AGPAT1	rs3130284-C	NR	7E-6		1.464		Affymetrix [NR]	N
611	chr6_mann_hap4	3489315	3489316	rs3134945	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	RNF5	rs3134945-T	0.2049	2E-40		2.54	[NR]	Illumina [242824]	N
611	chr6_mann_hap4	3489980	3489981	rs41268928	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	RNF5, NOTCH4, AGER	rs41268928-C	0.04	3E-16	(EA)	0.69	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_mann_hap4	3492083	3492084	rs2071288	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	AGER, RNF5, NOTCH4	rs2071288-T	0.1	2E-8	(Blacks)	0.56	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_mann_hap4	3494266	3494267	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	4E-9	(All)	0.23	[0.15-0.31] unit decrease	Illumina [6900000] (imputed)	N
611	chr6_mann_hap4	3494266	3494267	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	5E-9	(%LAA-950, All)	0.14	[-0.07560-0.35560] unit decrease	Illumina [7600000] (imputed)	N
611	chr6_mann_hap4	3494266	3494267	rs2070600	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	AGER	rs2070600-?	NR	1E-21	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
611	chr6_mann_hap4	3494266	3494267	rs2070600	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	6p21.32	AGER, PPT2	rs2070600-T	0.04	3E-14	(FEV1/FVC)	1.0	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
611	chr6_mann_hap4	3494266	3494267	rs2070600	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	6p21.32	AGER	rs2070600-T	0.06	3E-15	(FEV1/FVC)	0.088	[0.066-0.110] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_mann_hap4	3498401	3498402	rs204993	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	PBX2	rs204993-A	0.58	2E-15		1.17	[1.12-1.21]	Illumina [458847]	N
611	chr6_mann_hap4	3501139	3501140	rs176095	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	GPSM3	rs176095-G	NR	3E-7		1.3020833	[1.18-1.44]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
611	chr6_mann_hap4	3501139	3501140	rs176095	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	GPSM3	rs176095-T	0.81	8E-20		1.4	[1.30-1.51]	Illumina [606164]	N
611	chr6_mann_hap4	3506568	3506569	rs13215567	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	GPSM3, NOTCH4	rs13215567-A	0.049	1E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
611	chr6_mann_hap4	3508264	3508265	rs2071278	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRA	rs2071278-G	0.27	4E-72	(Serum level of C4)	0.13	[0.11-0.15] g/L decrease	Illumina [1940245] (imputed)	N
611	chr6_mann_hap4	3513900	3513901	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	5E-7	(EA)	1.25	[NR]	NR [1085772] (imputed)	N
611	chr6_mann_hap4	3513900	3513901	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	3E-7		1.25	[NR]	NR [1085772] (imputed)	N
611	chr6_mann_hap4	3514508	3514509	rs2071277	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	NOTCH4	rs2071277-C	0.219	2E-11		1.3	[1.20-1.41]	Illumina [2272849] (imputed)	N
611	chr6_mann_hap4	3515818	3515819	rs3131296	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	6p21.32	MHC, NOTCH4	rs3131296-G	0.87	2E-10		1.19	[NR]	Illumina [314868]	N
611	chr6_mann_hap4	3522722	3522723	rs2071286	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	NOTCH4	rs2071286-?	0.29	2E-8		2.15	[NR]	Illumina [899641]	N
611	chr6_mann_hap4	3527196	3527197	rs404860	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	NOTCH4	rs404860-A	0.50	4E-23		1.21	[1.16-1.25]	Illumina [458847]	N
611	chr6_mann_hap4	3531233	3531234	rs422951	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	NOTCH4	rs422951-G	0.81	5E-16		1.27	[1.20-1.35]	Illumina [3680900] (imputed)	N
611	chr6_mann_hap4	3532875	3532876	rs3132946	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	6p21.32	NR	rs3132946-A	0.12	8E-6		1.38	[1.21-1.57]	Illumina [439828]	N
611	chr6_mann_hap4	3533253	3533254	rs443198	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs443198-?	0.63	9E-21	(ACA positive)	1.82	[1.59-2.04]	Illumina [NR] (imputed)	N
611	chr6_mann_hap4	3533467	3533468	rs3134931	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		6p21.32	HLA, NOTCH4, C2	rs3134931-T	0.73	1E-8		0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [2397181]	N
611	chr6_mann_hap4	3535175	3535176	rs3096702	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	6p21.32	CYP21A2, DOM3Z, FKBPL, HLA-DRB6, HCG23, LOC10029, ATF6B, LOC100293534, AGER, LOC100507547, MIR1236, PPT2, PPT2-EGF, HLA-DRA, PPT2-EGFL8, RNF5, RNF5P1, CFB, RDBP, TNXA, TNXB, HLA-DQB1, NOTCH4, SKIV2L, STK19, GPSM3, PBX2, LOC10050, EGFL8, AGPAT1, C2, C4A, PRRT1, BTNL2, C4B, HLA-DRB5, C6orf10, HLA-DRB1, CYP21A1P, HLA-DQA1	rs3096702-A	0.4	5E-9		1.07	[1.04-1.10]	Illumina [~ 2600000] (imputed)	N
612	chr6_mann_hap4	3547859	3547860	rs549182	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	NOTCH4	rs549182-A	0.11	8E-10		1.59	[1.37-1.85]	Illumina [480391]	N
612	chr6_mann_hap4	3547924	3547925	rs9267911	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	PBX2, NOTCH4	rs9267911-T	0.479	3E-7		1.5	[1.29-1.76]	Illumina [4929034] (imputed)	N
612	chr6_mann_hap4	3551131	3551132	rs424232	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	6p21.32	HLA	rs424232-C		5E-21				Illumina [944512] (imputed)	N
612	chr6_mann_hap4	3559913	3559914	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-C	0.585	6E-6	(EA)	0.02	[0.012-0.028] unit increase	Illumina [NR] (imputed)	N
612	chr6_mann_hap4	3559913	3559914	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-?	NR	3E-8		0.0196	[0.013-0.026] unit decrease	Illumina [NR] (imputed)	N
612	chr6_mann_hap4	3560053	3560054	rs9267972	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	C6orf10, NOTCh4	rs9267972-A	NR	2E-6	(Dominant)	1.85	[1.46,2.33]	Affymetrix, Illumina [1621689] (imputed)	N
612	chr6_mann_hap4	3561663	3561664	rs3115573	20595679	Feehally J	2010-07-01	J Am Soc Nephrol	HLA has strongest association with IgA nephropathy in genome-wide analysis.	Nephropathy	187 European ancestry child cases, 244 European ancestry cases, 4,980 European ancestry controls	NA	6p21.32	intergenic	rs3115573-?	NR	1E-9		1.62	[1.39-1.90]	Illumina [286200]	N
612	chr6_mann_hap4	3561809	3561810	rs9296015	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs9296015-?	0.81	1E-8	(ATA positive)	1.85	[1.49-2.27]	Illumina [NR] (imputed)	N
612	chr6_mann_hap4	3561809	3561810	rs9296015	21505073	Terao C	2011-04-19	Hum Mol Genet	The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.	Rheumatoid arthritis	1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls	4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls	6p21.32	HLA locus	rs9296015-?	NR	2E-38				Illumina [241523]	N
612	chr6_mann_hap4	3566111	3566112	rs3130320	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	NOTCH4, C6orf10	rs3130320-T	0.39	3E-6	(case-only)	1.39	[1.21-1.60]	Illumina [421318] (imputed)	N
612	chr6_mann_hap4	3587459	3587460	rs3130340	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	6p21.32	MHC, C6orf10	rs3130340-T	0.79	1E-7		0.1	[0.06-0.13] s.d. decrease	Illumina [301019]	N
612	chr6_mann_hap4	3600401	3600402	rs926070	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	6p21.32	HLA	rs926070-A		4E-8	0.66	1.27	[NR]	Illumina [450000] (imputed)	N
612	chr6_mann_hap4	3604087	3604088	rs7775397	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs7775397-G	0.1139	5E-71		3.83	[NR]	Illumina [242824]	N
612	chr6_mann_hap4	3625693	3625694	rs6910071	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6p21.32	HLA-DRB1	rs6910071-G	0.22	1E-299		2.88	[2.73-3.03]	Affymetrix, Illumina [~ 2716259] (imputed)	N
612	chr6_mann_hap4	3648821	3648822	rs3129900	20639878	Singer JB	2010-07-18	Nat Genet	A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.	Lumiracoxib-related liver injury	31 European ancestry cases, 3 Hispanic cases, 1 case, 176 European, Hispanic and other ancestry controls	79 European ancestry cases, 16 Hispanic ancestry cases, 1 case, 405 European, Hispanic and other ancestry controls	6p21.32	HLA-DRB1	rs3129900-?	0.105	7E-25		7.5	[5.0-11.3]	Affymetrix [682386]	N
612	chr6_mann_hap4	3651751	3651752	rs9469099	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	C6orf10	rs9469099-G	0.909	5E-19		1.61	[1.44-1.80]	Illumina [606164]	N
612	chr6_mann_hap4	3658573	3658574	rs910049	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	C6orf10	rs910049-A	0.142	9E-11		1.46	[1.28-1.62]	Illumina [431618]	N
612	chr6_mann_hap4	3662483	3662484	rs9268301	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	C6orf10	rs9268301-A	0.438	2E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
612	chr6_mann_hap4	3664400	3664401	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
612	chr6_mann_hap4	3664400	3664401	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
612	chr6_mann_hap4	3664400	3664401	rs2395148	18576341	Behrens EM	2008-06-24	Arthritis Rheum	Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.	Arthritis (juvenile idiopathic)	67 European ancestry cases, 1,952 European ancestry controls, 63 cases	NA	6p21.32	HLA-DRB1	rs2395148-?	NR	2E-10		5.37	[3.02-9.56]	Illumina [524684]	N
612	chr6_mann_hap4	3668217	3668218	rs13196329	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.32	C6orf10	rs13196329-C	0.02	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
613	chr6_mann_hap4	3679029	3679030	rs3129934	22457343	Martinelli-Boneschi F	2012-03-28	Mult Scler	A genome-wide association study in progressive multiple sclerosis.	Multiple sclerosis	197 European ancestry cases, 234 European ancestry controls	379 European ancestry cases, 398 European ancestry controls	6p21.32	C6orf10	rs3129934-T	0.10	7E-16		2.34	[1.90-2.87]	Affymetrix [277866]	N
613	chr6_mann_hap4	3679029	3679030	rs3129934	18941528	Comabella M	2008-10-22	PLoS One	Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.	Multiple sclerosis	242 European ancestry cases, 242 European ancestry controls	553 European ancestry cases, 1,033 European ancestry controls	6p21.32	HLA-DRB1	rs3129934-T	NR	9E-11		3.3	[2.3-4.9]	Affymetrix [428867]	N
613	chr6_mann_hap4	3679608	3679609	rs3129939	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs3129939-G	0.1772	2E-40		2.6	[NR]	Illumina [242824]	N
613	chr6_mann_hap4	3680473	3680474	rs2273017	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.32	MHC	rs2273017-A	0.51	2E-22		1.53	[1.40-1.66]	Perlegen [268068]	N
613	chr6_mann_hap4	3681533	3681534	rs3129943	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	C6orf10	rs3129943-T	0.62	3E-15		1.17	[1.12-1.21]	Illumina [458847]	N
613	chr6_mann_hap4	3681914	3681915	rs2050190	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	6p21.32	C6orf10	rs2050190-A	NR	7E-7		0.2528	[0.17-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
613	chr6_mann_hap4	3684191	3684192	rs9268402	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6p21.32	BTNL2, C6orf10	rs9268402-G	0.59	3E-15		1.16	[1.12-1.20]	Affymetrix [~ 2200000] (imputed)	N
613	chr6_mann_hap4	3688111	3688112	rs7758128	21326295	Jin Y	2011-02-17	J Invest Dermatol	Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.	Vitiligo	1,339 European ancestry cases	677 European ancestry cases	6p21.32	BTNL2, C6orf10	rs7758128-A	0.06	8E-11				Illumina [520460]	N
613	chr6_mann_hap4	3701104	3701105	rs3117099	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.32	other genes, MHC	rs3117099-?	NR	3E-6		1.25	[NR]	Affymetrix [745006]	N
613	chr6_mann_hap4	3701348	3701349	rs3117098	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	BTNL2	rs3117098-G	0.25	5E-12		1.16	[1.11-1.21]	Illumina [458847]	N
613	chr6_mann_hap4	3706050	3706051	rs1980493	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	BTNL2	rs1980493-G	NR	2E-20		2.5034		Illumina [514008]	N
613	chr6_mann_hap4	3706050	3706051	rs1980493	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	BTNL2	rs1980493-G	0.1656	1E-48		2.87	[NR]	Illumina [242824]	N
613	chr6_mann_hap4	3706050	3706051	rs1980493	19287509	Cui J	2009-03-14	Mol Med	Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.	Anti-cyclic Citrullinated Peptide Antibody	531 European ancestry cases	849 European ancestry cases	6p21.32	HLA-DRA, BTNL2	rs1980493-?	0.13	5E-7				Affymetrix [97248]	N
613	chr6_mann_hap4	3706651	3706652	rs2076530	22936702	Hofmann S	2012-08-30	Eur Respir J	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.	Sarcoidosis	637 European ancestry cases, 1,233 European ancestry controls	3,121 European ancestry cases, 4,284 European ancestry controls	6p21.32	BTNL2	rs2076530-?	NR	3E-11	(Chronic)			Affymetrix [677619]	N
613	chr6_mann_hap4	3706679	3706680	rs9268480	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	BTNL2	rs9268480-G	0.91	3E-6		1.82	[1.43-2.33]	Illumina [513923]	N
613	chr6_mann_hap4	3706790	3706791	rs2076529	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p21.32	BTNL2	rs2076529-C	0.43	4E-7		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
613	chr6_mann_hap4	3710921	3710922	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	BTNL2	rs3817963-?	NR	8E-6	(OCB positive vs. controls)	1.52	[1.27-1.79]	Illumina [495970]	N
613	chr6_mann_hap4	3710921	3710922	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	BTNL2	rs3817963-?	NR	6E-10		1.61	[1.38-1.87]	Illumina [495970]	N
613	chr6_mann_hap4	3710921	3710922	rs3817963	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-A	0.315	1E-8		1.3	[1.18-1.42]	Illumina [431618]	N
613	chr6_mann_hap4	3710921	3710922	rs3817963	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-G	0.318	3E-10		1.18	[1.12-1.24]	Illumina [538166]	N
613	chr6_mann_hap4	3713445	3713446	rs9461741	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.32	BTNL2	rs9461741-C	0.018	4E-15		2.66	[2.08-3.39]	Illumina [611856]	N
613	chr6_mann_hap4	3716090	3716091	rs10947261	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs10947261-T	0.294	3E-12		1.36	[1.25-1.49]	Illumina [5664371] (imputed)	N
613	chr6_mann_hap4	3716170	3716171	rs10947262	20305777	Nakajima M	2010-03-18	PLoS One	New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.	Knee osteoarthritis	899 Japanese ancestry cases, 3,396 Japanese ancestry controls	167 Japanese ancestry cases, 347 Japanese ancestry controls, 813 European ancestry  cases, 1,071 European ancestry controls,	6p21.32	HLA-DQA2, HLA-DQB1, BTNL2	rs10947262-T	0.42	5E-9		1.31	[1.20-1.44]	Illumina [459393]	N
613	chr6_mann_hap4	3716558	3716559	rs3806156	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p21.32	HLA-DRA, BTNL2, HLA-DQA1	rs3806156-T	0.37	7E-19		1.42	[1.32-1.54]	Illumina [520460]	N
613	chr6_mann_hap4	3718830	3718831	rs3763309	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	6p21.32	HLA-DRB1	rs3763309-?		2E-124		2.3	[2.14-2.46]	Affymetrix, Illumina [1831729] (imputed)	N
613	chr6_mann_hap4	3719205	3719206	rs3763312	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.32	BTNL2, HLA-DRA	rs3763312-A	0.15	6E-6	(Han)	0.4002	unit decrease	Illumina [up to 528294]	N
613	chr6_mann_hap4	3719328	3719329	rs3763313	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.32	NOTCH4, BTNL2	rs3763313-?	NR	2E-6	(progression)			Illumina [NR]	N
613	chr6_mann_hap4	3719645	3719646	rs3763317	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRB	rs3763317-C	0.37	9E-66	(Serum level of C4)	0.12	[0.10-0.14] g/L increase	Illumina [1940245] (imputed)	N
613	chr6_mann_hap4	3721559	3721560	rs9268516	23028483	Ramasamy A	2012-09-28	PLoS One	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Asthma	1,716 European ancestry cases, 16,888 European ancestry controls	4,035 European ancestry cases, 11,251 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268516-T	0.24	1E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 2200000] (imputed)	N
613	chr6_mann_hap4	3721806	3721807	rs9405098	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs9405098-A	0.253	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
613	chr6_mann_hap4	3723805	3723806	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.517	2E-11		0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mann_hap4	3723805	3723806	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5158	5E-8	(women)	0.0241	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mann_hap4	3723805	3723806	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5154	4E-6	(men)	0.0223	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mann_hap4	3723805	3723806	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.511	4E-11	(EA)	0.0226	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mann_hap4	3723805	3723806	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5107	2E-7	(EA, women)	0.0237	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mann_hap4	3723805	3723806	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5106	5E-6	(EA, men)	0.0226	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_mann_hap4	3725127	3725128	rs4959027	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.32	TAP2, HLA-DRA	rs4959027-G	0.82	9E-7	(Pubertal growth)	0.09	[0.057-0.123] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
613	chr6_mann_hap4	3725185	3725186	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_mann_hap4	3725185	3725186	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_mann_hap4	3726798	3726799	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_mann_hap4	3726798	3726799	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_mann_hap4	3729886	3729887	rs2395163	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	6p21.32	LOC642072	rs2395163-?	NR	3E-11		1.24	[NR]	Illumina [2500000] (imputed)	N
613	chr6_mann_hap4	3731220	3731221	rs116869525	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA-DRB1*08:03	rs116869525-T	0.083	1E-8	(trend)	4.16	[2.50-6.90] (allelic)	Affymetrix [522980]	N
613	chr6_mann_hap4	3731725	3731726	rs3135363	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DR	rs3135363-?	NR	8E-7		1.51	[1.28-1.78]	Illumina [588026]	N
613	chr6_mann_hap4	3731725	3731726	rs3135363	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3135363-C	0.702	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
613	chr6_mann_hap4	3731725	3731726	rs3135363	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DR	rs3135363-?	NR	7E-22		1.53	[1.35-1.74]	Illumina [455508]	N
613	chr6_mann_hap4	3731725	3731726	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
613	chr6_mann_hap4	3731725	3731726	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
613	chr6_mann_hap4	3735045	3735046	rs3135350	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	6p21.32	NOTCH4, HLA-DRA, BTNL2	rs3135350-G	0.046	9E-8	(Gliadin)	0.51	[NR] unit increase	Illumina [944565] (imputed)	N
613	chr6_mann_hap4	3743143	3743144	rs3129860	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3129860-A	0.231	1E-9		1.36	[1.22-1.49]	Illumina [431618]	N
613	chr6_mann_hap4	3743281	3743282	rs3135338	20159113	Jakkula E	2010-02-12	Am J Hum Genet	Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.	Multiple sclerosis	68 Finland founder cases, 136 Finland founder controls	83 Finland founder cases, 365 Finland founder controls 3,285 European ancestry cases, 6,379 European ancestry controls, 1,202 cases, 3,399 controls	6p21.32	HLA	rs3135338-A	0.13	2E-25		3.43	[NR]	Illumina [297343]	N
613	chr6_mann_hap4	3748402	3748403	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRA	rs3129871-?	NR	1E-16	(OCB positive vs. controls)	1.98	[1.68-2.32]	Illumina [495970]	N
613	chr6_mann_hap4	3748402	3748403	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	HLA-DRA	rs3129871-?	NR	6E-15		1.72	[1.59-1.86]	Illumina [495970]	N
613	chr6_mann_hap4	3750585	3750586	rs9268645	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	6p21.32	MHC	rs9268645-?	NR	1E-100				Affymetrix, Illumina [841622] (imputed)	N
613	chr6_mann_hap4	3751588	3751589	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	5E-10	(Sporadic)	1.38	[1.24-1.52]	Illumina [811597]	N
613	chr6_mann_hap4	3751588	3751589	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	3E-8		1.31	[1.19-1.43]	Illumina [811597]	N
613	chr6_mann_hap4	3751588	3751589	rs3129882	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRA	rs3129882-?	0.44	2E-27	(ATA positive)	2.17	[1.88-2.50]	Illumina [NR] (imputed)	N
613	chr6_mann_hap4	3751588	3751589	rs3129882	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	6p21.32	HLA-DRA	rs3129882-G	0.40	2E-10		1.26	[1.17-1.35]	Illumina [811597]	N
613	chr6_mann_hap4	3753704	3753705	rs7192	22541561	Zhao H	2012-04-26	Am J Hum Genet	A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.	Non-obstructive azoospermia	802 Han Chinese ancestry cases, 1,863 Han Chinese ancestry controls	1,424 Han Chinese ancestry cases, 2,713 Han Chinese ancestry controls	6p21.32	HLA-DRA	rs7192-T	0.26	3E-6		1.29	[NR]	Affymetrix, Illumina [912924]	N
613	chr6_mann_hap4	3754501	3754502	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	3E-17		0.045	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_mann_hap4	3754501	3754502	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	1E-21		0.048	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_mann_hap4	3754501	3754502	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	2E-15		1.83	[1.36-2.3] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_mann_hap4	3754501	3754502	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	4E-19		2.31	[1.78-2.84] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_mann_hap4	3755117	3755118	rs3135388	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
613	chr6_mann_hap4	3755117	3755118	rs3135388	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p21.32	HLA-DRB1	rs3135388-A	0.22	4E-225		2.75	[2.46-3.07]	Affymetrix, Illumina [~ 2560000] (imputed)	N
613	chr6_mann_hap4	3755117	3755118	rs3135388	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	6p21.32	HLA-DRA	rs3135388-A	0.23	9E-81		1.99	[1.84-2.15]	Affymetrix [334923]	N
613	chr6_mann_hap4	3755525	3755526	rs2227139	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p21.32	intergenic	rs2227139-G	NR	1E-7	(WBC)	0.02	[0.01-0.03] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
613	chr6_mann_hap4	3755611	3755612	rs3129889	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3129889-G	0.20	1E-206		2.97	[NR]	Affymetrix, Illumina [2529394]	N
613	chr6_mann_hap4	3756339	3756340	rs3129890	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DRA	rs3129890-T	0.61	5E-13		1.15	[1.11-1.20]	Illumina [458847]	N
613	chr6_mann_hap4	3766973	3766974	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.72	1E-10	(East Asian)	1.3	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_mann_hap4	3766973	3766974	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	2E-38		1.41	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_mann_hap4	3766973	3766974	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	1E-30	(EA)	1.49	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_mann_hap4	3770379	3770380	rs6903608	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	6p21.32	HLA class II, HLA class I	rs6903608-C	0.30	7E-31		1.64	[1.51-1.78]	Affymetrix, Illumina [1004829] (imputed)	N
613	chr6_mann_hap4	3770379	3770380	rs6903608	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	6p21.32	NR	rs6903608-G	0.27	5E-27		1.62	[NR]	Illumina [296129]	N
613	chr6_mann_hap4	3770379	3770380	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_mann_hap4	3770379	3770380	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_mann_hap4	3770379	3770380	rs6903608	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	6p21.32	HLA-DRA	rs6903608-G	0.27	3E-50		1.7	[1.58-1.82]	Illumina [504374]	N
613	chr6_mann_hap4	3770866	3770867	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250	(EA)	2.47	[2.39-2.55]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_mann_hap4	3770866	3770867	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250		2.28	[2.22-2.34]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_mann_hap4	3770866	3770867	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.44	2E-145	(East Asian)	1.9	[1.81-1.99]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_mann_hap4	3771737	3771738	rs9268853	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	MHC	rs9268853-T	0.64	3E-6		1.37	[1.20-1.56]	Illumina [581060]	N
613	chr6_mann_hap4	3771737	3771738	rs9268853	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	BTLN2, HLA-DRA, HLA-DRB5, HLA-DRB1	rs9268853-C	NR	2E-10	(FL)	1.56	[NR]	Affymetrix [530583]	N
613	chr6_mann_hap4	3771737	3771738	rs9268853	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9268853-T	0.66	1E-55		1.4	[1.34-1.47]	Affymetrix, Illumina [~ 1100000] (imputed)	N
613	chr6_mann_hap4	3771813	3771814	rs9268856	24943344	Ferrari R	2014-07-01	Lancet Neurol	Frontotemporal dementia and its subtypes: a genome-wide association study.	Frontotemporal dementia	1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls	690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2	rs9268856-C	0.748	6E-9	(All Frontotemporal dementia)	1.24	[1.16-1.32]	Illumina [6026385] (imputed)	N
613	chr6_mann_hap4	3773238	3773239	rs9268877	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	6p21.32	MHC	rs9268877-?	NR	4E-23				Affymetrix [NR]	N
613	chr6_mann_hap4	3773238	3773239	rs9268877	18836448	Franke A	2008-10-05	Nat Genet	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.	Ulcerative colitis	1,167 European ancestry cases, 777 European ancestry controls	1,855 European ancestry cases, 3,091 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268877-T	0.45	6E-18		1.45	[1.33-1.58]	Affymetrix [355262]	N
613	chr6_mann_hap4	3774171	3774172	rs9268905	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	6p21.32	HLA-DRA	rs9268905-C	0.32	1E-7				Illumina [~ 2609000] (imputed)	N
613	chr6_mann_hap4	3774929	3774930	rs9268923	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	6p21.32	HLA-DRA	rs9268923-C	0.67	4E-15		1.45	[1.33-1.59]	Affymetrix [1897764] (imputed)	N
613	chr6_mann_hap4	3775262	3775263	rs2395185	25186300	Terao C	2014-09-03	Arthritis Rheumatol	An association between anti-nuclear antibody and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study.	Antinuclear antibody levels	3,185 Japanese ancestry individuals	3,963 Japanese ancestry individuals	6p21.32	HLA-DRA, HLA-DRB5	rs2395185-?	NR	1E-11		0.25	unit increase	Illumina [303506]	N
613	chr6_mann_hap4	3775262	3775263	rs2395185	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	6p21.32	HLA class II	rs2395185-T	0.35	1E-8		1.17	[1.11-1.23]	Illumina [596032]	N
613	chr6_mann_hap4	3775262	3775263	rs2395185	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.32	HLA-DRA	rs2395185-?	NR	4E-31	(Total cHL)	1.82	[1.67-2.00]	Illumina [502514]	N
613	chr6_mann_hap4	3775262	3775263	rs2395185	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	6p21.32	C6orf10, BTNL2, HLA	rs2395185-G	NR	9E-23		1.49	[NR]	Illumina [266047]	N
613	chr6_mann_hap4	3775262	3775263	rs2395185	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	intergenic	rs2395185-G	0.61	5E-22		1.92	[1.68-2.19]	Illumina [513923]	N
613	chr6_mann_hap4	3775262	3775263	rs2395185	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, BTNL2, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs2395185-?	0.67	1E-16		1.52		Illumina [280748]	N
613	chr6_mann_hap4	3786271	3786272	rs12194148	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs12194148-?	NR	5E-58	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
613	chr6_mann_hap4	3786623	3786624	rs12195582	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	6p21.32	HLA	rs12195582-T	0.465	5E-100		1.78	[1.69-1.88]	Illumina [up to 21554489]	N
613	chr6_mann_hap4	3788790	3788791	rs7453498	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	6p21.32	intergenic	rs7453498-C	0.8656	3E-6	(Complete)	0.8142	[0.47-1.16] unit increase	Affymetrix, Illumina [NR] (imputed)	N
613	chr6_mann_hap4	3790691	3790692	rs7748270	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	MHC	rs7748270-T	0.525	4E-13	(all cases vs. all controls)	1.7361	[NR]	Affymetrix [3441843] (imputed)	N
613	chr6_mann_hap4	3790691	3790692	rs7748270	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	MHC	rs7748270-T	0.525	1E-16	(ACPA+ cases vs. all controls)	2.01	[NR]	Affymetrix [3441843] (imputed)	N
614	chr6_mann_hap4	3828308	3828309	rs2157337	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs2157337-?	NR	9E-52	(ACPA-positive RA vs ACPA-negative RA)			Illumina [1723056] (imputed)	N
614	chr6_mann_hap4	3846436	3846437	rs3828840	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3828840-?	NR	5E-15	(OCB positive vs. controls)	1.94	[1.64-2.29]	Illumina [495970]	N
615	chr6_mann_hap4	4020599	4020600	rs477515	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DRA, BTNL2, HLA-DRB1, C6orf10	rs477515-T	0.442	3E-19		2.05	[1.75-2.41]	Illumina [588026]	N
615	chr6_mann_hap4	4020599	4020600	rs477515	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	HLA-DRB1	rs477515-T	0.32	3E-13	(Quantitative)	0.28	[NR] unit decrease	Illumina [944565]	N
615	chr6_mann_hap4	4020599	4020600	rs477515	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	6p21.32	HLA-DQA1	rs477515-?	0.69	1E-8		1.38	[1.23-1.54]	Illumina [NR]	N
615	chr6_mann_hap4	4022856	4022857	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
615	chr6_mann_hap4	4022856	4022857	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
615	chr6_mann_hap4	4024068	4024069	rs9270965	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9270965-?	NR	5E-12		1.72	[NR]	Affymetrix [603382]	N
615	chr6_mann_hap4	4024226	4024227	rs602875	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs602875-A	0.68	5E-27		1.61	[1.39-1.61]	Illumina [491883]	N
615	chr6_mann_hap4	4024593	4024594	rs9270984	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6p21.32	HLA-DRB1	rs9270984-T	0.18	5E-24		1.73		Illumina [2100739] (imputed)	N
615	chr6_mann_hap4	4024662	4024663	rs9270986	25643325	Renton AE	2015-04-01	JAMA Neurol	A Genome-wide Association Study of Myasthenia Gravis.	Myasthenia gravis	972 European ancestry cases, 1,977 European ancestry controls	423 European ancestry cases, 467 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9270986-A	0.15	6E-8		1.43	[NR]	Illumina [8114394] (imputed)	N
615	chr6_mann_hap4	4024773	4024774	rs615672	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	HLA-DRB1	rs615672-?	NR	8E-27				Affymetrix [469557]	N
615	chr6_mann_hap4	4026272	4026273	rs3021304	25108386	Hou S	2014-08-10	Nat Genet	Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.	Vogt-Koyanagi-Harada syndrome	774 Han Chinese ancestry cases, 2,009 Han Chinese ancestry controls	764 Han Chinese ancestry cases, 3594 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3021304-G	0.346	1E-118		2.97	[2.71-3.26]	Affymetrix, Illumina [2208258] (imputed)	N
615	chr6_mann_hap4	4026349	4026350	rs9461776	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	HLA-DQA1, HLA-DRB1	rs9461776-G	0.29	7E-9		2.02	[NR]	Illumina [899641]	N
615	chr6_mann_hap4	4027090	4027091	rs9271100	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs9271100-T	0.217	8E-95		1.68	[NR]	Illumina [4577171] (imputed)	N
615	chr6_mann_hap4	4027090	4027091	rs9271100	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs9271100-?	NR	1E-12		1.9	[1.59-2.27]	Illumina [493955]	N
615	chr6_mann_hap4	4027407	4027408	rs9271117	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9271117-?	NR	6E-14		1.75	[NR]	Affymetrix [603382]	N
615	chr6_mann_hap4	4027990	4027991	rs660895	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p21.32	NR	rs660895-G	0.259	1E-10		1.289	[1.184-1.402]	Illumina [3792949] (imputed)	N
615	chr6_mann_hap4	4027990	4027991	rs660895	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs660895-G	0.24	4E-20		1.34	[1.26-1.42]	Illumina [444882]	N
615	chr6_mann_hap4	4027990	4027991	rs660895	17804836	Plenge RM	2007-09-05	N Engl J Med	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.	Rheumatoid arthritis	1,522 European ancestry cases, 1,850 European ancestry controls	1,053 European ancestry cases, 1,858 European ancestry controls	6p21.32	HLA-DRB1	rs660895-?	0.21	1E-108		3.62	[NR]	Illumina [297086]	N
615	chr6_mann_hap4	4028691	4028692	rs674313	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DRB5	rs674313-T	0.26	7E-9		1.69	[1.41-2.01]	Affymetrix [827777]	N
615	chr6_mann_hap4	4029139	4029140	rs9271192	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	6p21.32	HLA-DRB5, HLA-DRB1	rs9271192-C	0.276	3E-12		1.11	[1.08-1.18]	Illumina [7055881] (imputed)	N
615	chr6_mann_hap4	4029644	4029645	rs9271209	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.32	NR	rs9271209-?	NR	2E-85	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
615	chr6_mann_hap4	4032493	4032494	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-6	(LYM)	1.29	[1.16-1.43]	Affymetrix [530583]	N
615	chr6_mann_hap4	4032493	4032494	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-12	(FL)	1.93	[NR]	Affymetrix [530583]	N
615	chr6_mann_hap4	4032493	4032494	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	2E-8	(NHL)	1.37	[1.23-1.54]	Affymetrix [530583]	N
615	chr6_mann_hap4	4032493	4032494	rs4530903	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs4530903-?	NR	5E-6	(Negative/disorganized symptoms)	0.0919	[NR] unit increase	Affymetrix [696491]	N
615	chr6_mann_hap4	4034345	4034346	rs9271348	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271348-?		5E-7		1.2821	[NR]	Illumina [452367]	N
615	chr6_mann_hap4	4037109	4037110	rs9271366	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9271366-A	0.888	5E-12		1.66	[1.44-1.92]	Illumina [5664371] (imputed)	N
615	chr6_mann_hap4	4037109	4037110	rs9271366	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271366-G	0.11	1E-18		2.1	[1.78-2.48]	Illumina [581060]	N
615	chr6_mann_hap4	4037109	4037110	rs9271366	21699788	Okada Y	2011-06-20	Gastroenterology	HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.	Ulcerative colitis or Crohn's disease	372 Japanese ancestry Crohn's disease cases, 372 Japanese ancestry ulcerative colitis cases	607 Japanese ancestry Crohn's disease cases, 376 Japanese ancestry ulcerative colitis cases	6p21.32	MHC, HLA-DRB1	rs9271366-C	0.21	2E-70	(UC vs. CD)	4.44	[3.74-5.27]	Illumina [461368]	N
615	chr6_mann_hap4	4037109	4037110	rs9271366	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-?	0.85	3E-33		7.69	[5.26-11.11]	Illumina [2057134] (imputed)	N
615	chr6_mann_hap4	4037109	4037110	rs9271366	20598377	Nischwitz S	2010-06-30	J Neuroimmunol	Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.	Multiple sclerosis	590 European ancestry cases, 825 European ancestry controls	NA	6p21.32	DQA1	rs9271366-G	NR	4E-17		2.62	[2.09-3.28]	Illumina [~ 300000]	N
615	chr6_mann_hap4	4037109	4037110	rs9271366	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-G	0.15	7E-184		2.78	[NR]	Illumina [302098]	N
615	chr6_mann_hap4	4039518	4039519	rs35597309	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	6p21.32	HLA	rs35597309-A	0.072	1E-7		1.19	[1.12-1.27]	Affymetrix, Illumina [7556215] (imputed)	N
615	chr6_mann_hap4	4047224	4047225	rs3129763	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3129763-?	0.25	1E-11	(ATA positive)	1.65	[1.42-1.91]	Illumina [NR] (imputed)	N
615	chr6_mann_hap4	4047252	4047253	rs9271588	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1, c6orf10, BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB6	rs9271588-T	0.532	9E-37		1.75	[1.59-1.89]	Affymetrix [556134]	N
615	chr6_mann_hap4	4048483	4048484	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DRB1	rs9271640-A	NR	5E-12		1.56	[1.38-1.77]	NR [485522]	N
615	chr6_mann_hap4	4048483	4048484	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
615	chr6_mann_hap4	4048483	4048484	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
615	chr6_mann_hap4	4048483	4048484	rs9271640	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA1	rs9271640-?	NR	2E-20	(OCB positive vs. controls)	2.37	[1.97-2.84]	Illumina [495970]	N
615	chr6_mann_hap4	4048893	4048894	rs28421666	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.32	HLA-DQ, HLA-DR	rs28421666-?	0.88	2E-18		1.49	[1.37-1.64]	Illumina [464328]	N
615	chr6_mann_hap4	4051385	4051386	rs9271858	23291585	Fakiola M	2013-01-06	Nat Genet	Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.	Leishmaniasis (visceral)	989 Indian ancestry cases, 1,089 Indian ancestry controls, 357 Brazilian ancestry cases, 1,613 Brazilian ancestry unaffected relatives	951 Indian ancestry cases, 990 Indian ancestry controls	6p21.32	HLA, HLA-DRB1, HLA-DQA1	rs9271858-G	0.39	3E-17		1.41	[1.30-1.52]	Illumina [521134]	N
615	chr6_mann_hap4	4056153	4056154	rs9272105	22807686	Li S	2012-07-12	PLoS Genet	GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.	Hepatocellular carcinoma	1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers	4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.45	5E-22		1.28	[1.22-1.35]	NR [523663]	N
615	chr6_mann_hap4	4056153	4056154	rs9272105	21502966	Weber F	2011-04-19	Pharmacogenomics J	Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-&#x003b2; therapy in multiple sclerosis patients.	Response to interferon beta therapy	178 European ancestry antibody-positive individuals, 184 European ancestry antibody-negative individuals	350 European ancestry antibody-positive individuals, 468 European ancestry antibody-negative individuals	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.44	4E-10		0.26	[NR] unit increase	Illumina [~ 317000]	N
615	chr6_mann_hap4	4056957	4056958	rs9272143	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9272143-?	NR	3E-22		1.49	[1.37-1.61]	Illumina [632668]	N
615	chr6_mann_hap4	4058424	4058425	rs9272219	19571809	Shi J	2009-07-01	Nature	Common variants on chromosome 6p22.1 are associated with schizophrenia.	Schizophrenia	2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls	5,327 European ancestry cases, 16,424 European ancestry controls	6p21.32	HLA-DQA1	rs9272219-G	0.72	7E-8	(EA)	1.14	[NR]	Affymetrix [up to 843798]	N
615	chr6_mann_hap4	4059162	4059163	rs2040406	20453840	Sanna S	2010-05-09	Nat Genet	Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.	Multiple sclerosis	882 Sardinian cases, 872 Sardinian controls	1,775 Sardinian cases, 2,005 Sardinian controls	6p21.32	HLA-DQB1, HLA-DRB	rs2040406-G	0.26	1E-20		2.05	[NR]	Affymetrix [6607266] (imputed)	N
615	chr6_mann_hap4	4060527	4060528	rs9272346	23181788	Lasky-Su J	2012-12-04	Clin Exp Allergy	HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.	Asthma	Up to 1,238 European ancestry cases, up to 2,617 European ancestry controls	Up to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents	6p21.32	HLA-DQA1	rs9272346-?	NR	2E-8	(Adult)			Affymetrix [455089]	N
615	chr6_mann_hap4	4060527	4060528	rs9272346	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	6p21.32	HLA	rs9272346-G	NR	6E-129				Affymetrix [up to 335565]	N
615	chr6_mann_hap4	4060527	4060528	rs9272346	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	6p21.32	MHC	rs9272346-G	0.61	5E-134		5.49	[4.83-6.24]	Affymetrix [469557]	N
615	chr6_mann_hap4	4062043	4062044	rs2187668	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	NR	1E-9				Affymetrix [up to 700598]	N
615	chr6_mann_hap4	4062043	4062044	rs2187668	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-T	0.107	4E-10		2.93	[2.18-3.95]	Affymetrix [906600]	N
615	chr6_mann_hap4	4062043	4062044	rs2187668	24768677	de Boer YS	2014-04-23	Gastroenterology	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	Autoimmune hepatitis type-1	649 European ancestry cases, 13,436 European ancestry controls	451 European ancestry cases, 4,103 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	0.15	2E-78		2.9	[2.60-3.40]	Illumina [254006]	N
615	chr6_mann_hap4	4062043	4062044	rs2187668	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DR3	rs2187668-A	0.12	6E-28	(anti-dsDNA +)	2.23	[1.94-2.57]	Illumina [421318] (imputed)	N
615	chr6_mann_hap4	4062043	4062044	rs2187668	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	HLA-DQA1	rs2187668-A	0.1297	8E-93		4.32	[NR]	Illumina [242824]	N
615	chr6_mann_hap4	4062043	4062044	rs2187668	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs2187668-A	0.13	2E-33		2.53	[2.17-2.95]	Illumina [2057134] (imputed)	N
615	chr6_mann_hap4	4062043	4062044	rs2187668	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs2187668-A	0.26	1E-50		6.23	[5.95-6.52]	Illumina [292387]	N
615	chr6_mann_hap4	4062043	4062044	rs2187668	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.11	3E-21				Illumina [502033]	N
615	chr6_mann_hap4	4062043	4062044	rs2187668	17558408	van Heel DA	2007-06-10	Nat Genet	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.	Celiac disease	778 European ancestry cases, 1,422 European ancestry controls	991 European ancestry cases, 1,489 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.14	1E-19		7.04	[6.08-8.15]	Illumina [310605]	N
615	chr6_mann_hap4	4062890	4062891	rs9272535	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DQA1	rs9272535-A	0.27	9E-8		1.61	[1.35-1.92]	Affymetrix [827777]	N
616	chr6_mann_hap4	4068486	4068487	rs6927022	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DQA1	rs6927022-A	0.535	5E-133		1.444	[1.387-1.503]	Affymetrix, Illumina [1230000] (imputed)	N
616	chr6_mann_hap4	4078943	4078944	rs9273349	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	6p21.32	HLA-DQ	rs9273349-C	0.58	7E-14		1.18	[1.13-1.24]	Illumina [582892]	N
616	chr6_mann_hap4	4079204	4079205	rs7744020	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs7744020-A	0.272	8E-9		1.9	year decrease	Affymetrix [603382]	N
616	chr6_mann_hap4	4079346	4079347	rs9273363	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	6p21.32	HLA	rs9273363-A	0.27	2E-10		1.24	[NR]	Illumina [549934]	N
616	chr6_mann_hap4	4079385	4079386	rs6906021	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.45	2E-12		1.15	[1.11-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4079385	4079386	rs6906021	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.4749	7E-15		0.0945	[0.071-0.118] unit increase	Illumina [2400000] (imputed)	N
616	chr6_mann_hap4	4079673	4079674	rs9273373	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	6p21.32	HLA-DQB1	rs9273373-G	0.54	4E-14		1.24	[1.17-1.30]	Illumina [up to 4972397] (imputed)	N
616	chr6_mann_hap4	4083722	4083723	rs2854275	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	PSORS1C1, BAT2, EHMT2, HLA-DQB1, C6orf15, BAT4, NOTCH4, PRRT1, HLA-B	rs2854275-T	0.064	2E-10	(Conditional on rs477515 - Quantitative)	0.45	[NR] unit decrease	Illumina [944565]	N
616	chr6_mann_hap4	4088492	4088493	rs9274407	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA		HLA-DRB1-DQB1	rs9274407-?	NR	5E-14		3.1	[2.30-4.20]	Illumina [822927]	N
616	chr6_mann_hap4	4089380	4089381	rs9274477	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA		NR	rs9274477-G	0.292	2E-8		1.82	year decrease	Affymetrix [603382]	N
616	chr6_mann_hap4	4091668	4091669	rs9274623	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs9274623-G	NR	6E-19		1.1363636	[NR]	Illumina [7158791] (imputed)	N
616	chr6_mann_hap4	4108917	4108918	rs17212223	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs17212223-T	0.191	3E-8		1.95	year decrease	Affymetrix [603382]	N
616	chr6_mann_hap4	4112593	4112594	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
616	chr6_mann_hap4	4112593	4112594	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
616	chr6_mann_hap4	4114823	4114824	rs3129716	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQB1	rs3129716-?	NR	4E-9				Affymetrix [up to 700598]	N
616	chr6_mann_hap4	4114966	4114967	rs7774434	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	6p21.32	MHC	rs7774434-C	0.38	4E-34		1.6	[1.48-1.73]	Illumina [507467]	N
616	chr6_mann_hap4	4114966	4114967	rs7774434	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	6p21.32	HLA-DQB1	rs7774434-C	0.371	3E-26		1.75	[NR]	Illumina [276459]	N
616	chr6_mann_hap4	4115784	4115785	rs7775228	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	6p21.32	HLA region	rs7775228-C	0.13	2E-9		1.33	[1.21-1.45]	Affymetrix, Illumina [2217510] (imputed)	N
616	chr6_mann_hap4	4115784	4115785	rs7775228	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQB1	rs7775228-A	0.63	5E-15		1.17	[1.12-1.21]	Illumina [458847]	N
616	chr6_mann_hap4	4116015	4116016	rs9469220	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQB1	rs9469220-G	NR	2E-7		0.09	[0.05-0.12] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
616	chr6_mann_hap4	4116015	4116016	rs9469220	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	6p21.32	NR	rs9469220-A	0.48	2E-6		1.14	[0.98-1.32]	Affymetrix [469557]	N
616	chr6_mann_hap4	4117566	4117567	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.59	8E-14	(East Asian)	1.38		Illumina [> 1000000] (imputed)	N
616	chr6_mann_hap4	4117566	4117567	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-30		1.36	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_mann_hap4	4117566	4117567	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-18	(EA)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_mann_hap4	4121319	4121320	rs3129720	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQB1	rs3129720-?	NR	5E-15	(OCB positive vs. controls)	1.91	[1.62-2.24]	Illumina [495970]	N
616	chr6_mann_hap4	4121319	4121320	rs3129720	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQB1, HLA-DRB9, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs3129720-C	0.764	5E-7		1.16	(1.10-1.23)	Illumina [870065]	N
616	chr6_mann_hap4	4121540	4121541	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
616	chr6_mann_hap4	4121540	4121541	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1	rs6457617-A	NR	7E-17		0.127	[NR] unit decrease	NR [485236]	N
616	chr6_mann_hap4	4121540	4121541	rs6457617	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DRB1, DQA1, DQB1	rs6457617-T	0.45	7E-33		1.4	[1.32-1.48]	Illumina [486049]	N
616	chr6_mann_hap4	4121540	4121541	rs6457617	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.32	HLA, DQB1	rs6457617-T	0.50	2E-37		1.61	[1.49-1.72]	Illumina [489814]	N
616	chr6_mann_hap4	4121540	4121541	rs6457617	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	6p21.32	HLA-DQB1	rs6457617-?	0.53	4E-17		1.37	[1.28-1.47]	Illumina [279621]	N
616	chr6_mann_hap4	4121540	4121541	rs6457617	18668548	Julia A	2008-08-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.	Rheumatoid arthritis	400 European ancestry cases, 400 European ancestry controls	410 European ancestry cases, 394 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQA1	rs6457617-?	NR	1E-9				Illumina [299918]	N
616	chr6_mann_hap4	4121540	4121541	rs6457617	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	MHC	rs6457617-T	0.49	5E-75		2.36	[1.97-2.84]	Affymetrix [469557]	N
616	chr6_mann_hap4	4121688	4121689	rs6457620	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.32	HLA locus	rs6457620-C	0.51	2E-16		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
616	chr6_mann_hap4	4121688	4121689	rs6457620	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	6p21.32	HLA-DRB1	rs6457620-?	0.50	4E-186		2.55	[2.40-2.71]	Affymetrix, Illumina [at least 315971] (imputed)	N
616	chr6_mann_hap4	4122147	4122148	rs2647012	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	intergenic	rs2647012-?	NR	3E-7	(Additive)	1.52	[1.3-1.75]	Affymetrix, Illumina [1621689] (imputed)	N
616	chr6_mann_hap4	4122147	4122148	rs2647012	21533074	Smedby KE	2011-04-21	PLoS Genet	GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma.	Follicular lymphoma	379 European ancestry cases, 791 European ancestry controls	1,049 European ancestry cases, 3,952 European ancestry controls	6p21.32	HLA-DQB1	rs2647012-G	0.56	2E-21		1.56	[1.43-1.72]	Illumina [298168]	N
616	chr6_mann_hap4	4122147	4122148	rs2647012	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQA1	rs2647012-A	0.44	8E-6	(case-only)	1.38	[1.20-1.59]	Illumina [421318] (imputed)	N
616	chr6_mann_hap4	4122649	4122650	rs9357152	21896673	Chen D	2011-09-10	Hum Mol Genet	Genome-wide association study of HPV seropositivity.	HPV seropositivity	1,286 European ancestry lung cancer cases, 679 European ancestry head and neck cancer cases, 811 European ancestry kidney cancer cases, 2,035 European ancestry controls	1,307 Hispanic head and neck cancer cases, 1,037 Hispanic controls	6p21.32	HLA-DQB1	rs9357152-G	0.33	1E-14				Illumina [316015]	N
616	chr6_mann_hap4	4122649	4122650	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
616	chr6_mann_hap4	4122649	4122650	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
616	chr6_mann_hap4	4123109	4123110	rs10484561	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.32	HLA-DQB1	rs10484561-G	0.11	1E-29	(FL)	1.95	[1.72-2.22]	Illumina [312768]	N
616	chr6_mann_hap4	4123989	4123990	rs9275319	23242368	Jiang DK	2012-12-16	Nat Genet	Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.	Hepatocellular carcinoma (hepatitis B virus related)	1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls	4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls	6p21.32	HLA-DQ	rs9275319-A	0.88	3E-17		1.49	[1.36-1.63]	Illumina [1672517] (imputed)	N
616	chr6_mann_hap4	4124354	4124355	rs9275326	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	6p21.32	HLA-DQB	rs9275326-C	0.906	1E-12		1.21	[1.16-1.26]	Illumina [7893274] (imputed)	N
616	chr6_mann_hap4	4125578	4125579	rs2647044	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.32	HLA-DQB1	rs2647044-G	NR	6E-6	(FEV1/FVC)	0.044	[0.024-0.064] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4125578	4125579	rs2647044	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	6p21.32	HLA-DRB1	rs2647044-A	0.13	1E-16		8.3	[6.97-9.89]	Illumina [543071]	N
616	chr6_mann_hap4	4125769	4125770	rs2647045	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647045-?	NR	4E-10	(FL)	1.69	[NR]	Affymetrix [530583]	N
616	chr6_mann_hap4	4126005	4126006	rs2647046	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647046-?	NR	2E-6	(NHL)	1.25	[1.14-1.37]	Affymetrix [530583]	N
616	chr6_mann_hap4	4126826	4126827	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.75	1E-7	(ATA positive)	1.61	[1.35-1.92]	Illumina [NR] (imputed)	N
616	chr6_mann_hap4	4126826	4126827	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.25	3E-54	(ACA positive)	2.38	[2.13-2.67]	Illumina [NR] (imputed)	N
616	chr6_mann_hap4	4127043	4127044	rs11752643	21971053	Takeuchi F	2011-10-05	Eur J Hum Genet	Genome-wide association study of coronary artery disease in the Japanese.	Coronary heart disease	806 Japanese ancestry cases, 1,337 Japanese ancestry controls	3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls	6p21.32	HLA, DRB-DQB	rs11752643-T	0.06	5E-7		1.26	[1.15-1.38]	Illumina [451382]	N
616	chr6_mann_hap4	4127437	4127438	rs2647050	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	HLA-DQB1	rs2647050-T	NR	1E-6	(Perc15, All)	1.6	[0.66-2.54] unit increase	Illumina [7600000] (imputed)	N
616	chr6_mann_hap4	4127625	4127626	rs9275406	23918589	Negi S	2013-12-01	Arthritis Rheum	A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians.	Rheumatoid arthritis	706 North Indian ancestry cases, 761 North Indian ancestry controls	927 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1, C6orf10, HLA-DQA1	rs9275406-T	0.17	3E-12		2.1	[1.72-2.68]	Illumina [559348]	N
616	chr6_mann_hap4	4127917	4127918	rs2856718	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB1	rs2856718-C	0.55	7E-28		1.28	[1.22-1.33]	Illumina [3680900] (imputed)	N
616	chr6_mann_hap4	4127917	4127918	rs2856718	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs2856718-?	NR	2E-24		1.6	[1.46-1.75]	Illumina [719265]	N
616	chr6_mann_hap4	4127917	4127918	rs2856718	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DQB1	rs2856718-A	0.48	4E-37		1.56	[1.45-1.67]	Illumina [423627]	N
616	chr6_mann_hap4	4127970	4127971	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.77	5E-10	(East Asian)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_mann_hap4	4127970	4127971	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	5E-8	(EA)	1.21	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_mann_hap4	4127970	4127971	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	1E-15		1.27	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_mann_hap4	4128765	4128766	rs13192471	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	6p21.32	HLA-DRB1	rs13192471-G	0.22	2E-58		1.97	[1.82-2.14]	Illumina [393217]	N
616	chr6_mann_hap4	4128910	4128911	rs1794275	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DQA/B	rs1794275-A	0.15	3E-13		1.3	[1.21-1.39]	Illumina [444882]	N
616	chr6_mann_hap4	4132386	4132387	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945894807901907	8E-6	(IGP1)	0.3014	[0.17-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4132386	4132387	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945736455079007	1E-6	(IGP19)	0.3272	[0.2-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4132386	4132387	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945425811930783	3E-7	(IGP41)	0.3448	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4132757	4132758	rs9275524	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	intergenic	rs9275524-T		2E-7	(Modelling analysis)	1.07	[1.04-1.09]	NR [1252901] (imputed)	N
616	chr6_mann_hap4	4133118	4133119	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	7E-14	(ACPA+ cases vs. all controls)	3.015	[NR]	Affymetrix [3441843] (imputed)	N
616	chr6_mann_hap4	4133118	4133119	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	3E-12	(all cases vs. all controls)	2.608	[NR]	Affymetrix [3441843] (imputed)	N
616	chr6_mann_hap4	4133118	4133119	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	2E-13	(ACPA- cases vs. all controls)	2.869	[NR]	Affymetrix [3441843] (imputed)	N
616	chr6_mann_hap4	4135037	4135038	rs9275563	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275563-?	NR	6E-11	(OCB positive vs. controls)	1.75	[1.47-2.04]	Illumina [495970]	N
616	chr6_mann_hap4	4135729	4135730	rs4273729	23420232	Duggal P	2013-02-19	Ann Intern Med	Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.	Chronic hepatitis C infection	1,482 chronic HCV cases, 919 spontaneously cleared HCV cases	461 chronic HCV cases, 284 spontaneously cleared HCV cases	6p21.32	HLA	rs4273729	NR	5E-17		1.59		Illumina [792721] (imputed)	N
616	chr6_mann_hap4	4136139	4136140	rs9275572	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-A	0.4	5E-16		1.74	[1.64-1.85]	Illumina [NR]	N
616	chr6_mann_hap4	4136139	4136140	rs9275572	24376798	Miki D	2013-12-20	PLoS One	HLA-DQB1*03 confers susceptibility to chronic hepatitis C in Japanese: a genome-wide association study.	Chronic hepatitis C infection	481 Japanese ancestry cases, 2,963 Japanese ancestry controls	5,737 Japanese ancestry cases, 26,931 Japanese ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs9275572-T	0.359	4E-16		1.27	[1.19-1.33]	Illumina [458207]	N
616	chr6_mann_hap4	4136139	4136140	rs9275572	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.32	HLA-DQ, HLA-DR	rs9275572-A	0.36	6E-9		1.3	[1.19-1.42]	Illumina [432703]	N
616	chr6_mann_hap4	4136139	4136140	rs9275572	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-G	0.59	1E-35		2.21	[1.98-2.47]	Illumina [463301]	N
616	chr6_mann_hap4	4137719	4137720	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Pack-years)	1.0E-4	[-0.00014-0.00025] unit decrease	NR [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4137719	4137720	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Ever-smoking)	0.001	[-0.04016-0.04216] unit decrease	NR [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4138073	4138074	rs7765379	25383971	Dunstan SJ	2014-11-10	Nat Genet	Variation at HLA-DRB1 is associated with resistance to enteric fever.	Enteric fever	432 Vietnamese ancestry cases, 2,011 Vietnamese ancestry controls	151 Vietnamese ancestry cases,  668 Vietnamese ancestry controls, 595 Nepalese ancestry cases, 386 Nepalese ancestry controls	6p21.32	HLA-DRB1, HLA-DQB1	rs7765379-A	0.945	2E-13		4.55	[2.94-6.67]	Illumina [709725]	N
616	chr6_mann_hap4	4138073	4138074	rs7765379	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	HLA-DQA2, HLA-DOB, HLA-DQB1, PSMB9, HLA-DRB1, HLA-DQA1	rs7765379-G	NR	9E-59		1.93	[1.78-2.09]	Illumina [4929034] (imputed)	N
616	chr6_mann_hap4	4138073	4138074	rs7765379	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	6p21.32	HLA-DRB1	rs7765379-?		5E-23		2.51	[NR]	Illumina [441398]	N
616	chr6_mann_hap4	4138422	4138423	rs2858331	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQA2	rs2858331-G	NR	6E-6				Affymetrix, Illumina [NR] (imputed)	N
616	chr6_mann_hap4	4138422	4138423	rs2858331	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p21.32	HLA-DQA2	rs2858331-G	NR	1E-8		0.04	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
616	chr6_mann_hap4	4138500	4138501	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.763	6E-6		0.016	[0.0089-0.0227] kg/m2 increase	Affymetrix, Illumina [2550021]	N
616	chr6_mann_hap4	4138500	4138501	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.76	9E-6	(EA)	0.016	[0.009-0.0232] kg/m2 increase	Affymetrix, Illumina [2550021]	N
616	chr6_mann_hap4	4138776	4138777	rs9275596	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Peanut allergy	316 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 589 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	62 European ancestry child cases, 69 European ancestry child controls, 24 child cases, 58 child controls	6p21.32	HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DQA2	rs9275596-C	0.35	6E-11	(EA)	1.7	[1.40-2.10]	Illumina [6459842] (imputed)	N
616	chr6_mann_hap4	4138776	4138777	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.8	1E-19	(East Asian)	1.69	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_mann_hap4	4138776	4138777	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	3E-31		1.44	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_mann_hap4	4138776	4138777	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	2E-15	(EA)	1.35		Illumina [> 1000000] (imputed)	N
616	chr6_mann_hap4	4138776	4138777	rs9275596	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1, HLA-DQA1	rs9275596-?	0.73 (EA)	2E-26		1.59	[NR]	Illumina [498322]	N
616	chr6_mann_hap4	4138814	4138815	rs6935723	25217962	Heap GA	2014-09-14	Nat Genet	HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.	Response to thiopurine immunosuppressants in inflammatory bowel disease (pancreatitis) (azathioprine and mercaptopurine)	172 European ancestry cases, 2,035 European ancestry controls	78 European ancestry cases, 472 controls	6p21.32	HLA region	rs6935723-C	0.27	1E-21		2.46	[2.04-2.98]	Affymetrix, Illumina [2819700] (imputed)	N
616	chr6_mann_hap4	4138821	4138822	rs3104402	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs3104402-A	NR	6E-6		0.165	[0.094-0.236] unit decrease	Affymetrix [736996]	N
616	chr6_mann_hap4	4139283	4139284	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
616	chr6_mann_hap4	4139283	4139284	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
616	chr6_mann_hap4	4142695	4142696	rs3916765	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p21.32	HLA-DQA2	rs3916765-A	0.12	1E-6	(Lean)	1.21	[1.12-1.31]	NR [NR]	N
616	chr6_mann_hap4	4145100	4145101	rs9275698	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQA2	rs9275698-T	0.79	5E-12		1.18	[1.12-1.24]	Illumina [458847]	N
616	chr6_mann_hap4	4154935	4154936	rs2859113	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs2859113-C	0.378328302013423	6E-8	(IGP59)	0.1817	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4157230	4157231	rs2858884	20711174	Hor H	2010-08-15	Nat Genet	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	Narcolepsy	562 European ancestry cases, 702 European ancestry controls	370 cases, 495 controls	6p21.32	HLA-DQA2	rs2858884-A	0.81	3E-8		1.79	[1.45-2.17]	Affymetrix [392949]	N
616	chr6_mann_hap4	4164450	4164451	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQA2	rs9276370-T	0.076	2E-12		1.95	[1.62-2.34]	Illumina [456262]	N
616	chr6_mann_hap4	4164450	4164451	rs9276370	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
616	chr6_mann_hap4	4181111	4181112	rs7756516	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
616	chr6_mann_hap4	4182389	4182390	rs2301271	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2	rs2301271-T	0.40	2E-12	(anti-dsDNA -)	1.47	[1.32-1.63]	Illumina [421318] (imputed)	N
616	chr6_mann_hap4	4184001	4184002	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.346381764494382	2E-8	(IGP42)	0.1909	[0.12-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4184001	4184002	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.34601888034188	4E-8	(IGP2)	0.1853	[0.12-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_mann_hap4	4187209	4187210	rs7453920	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-A	0.88	1E-60		2.0	[1.82-2.17]	Illumina [3680900] (imputed)	N
616	chr6_mann_hap4	4187209	4187210	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.051	7E-15		2.31	[1.87-2.85]	Illumina [456262]	N
616	chr6_mann_hap4	4187209	4187210	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
616	chr6_mann_hap4	4187209	4187210	rs7453920	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.87	5E-37		1.8868	[1.69-2.08]	Illumina [490610]	N
616	chr6_mann_hap4	4187209	4187210	rs7453920	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs7453920-?	NR	7E-26		2.0	[1.72-2.27]	Illumina [719265]	N
616	chr6_mann_hap4	4187209	4187210	rs7453920	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2	rs7453920-?	NR	5E-6	(LYM)	1.19	[1.11-1.3]	Affymetrix [530583]	N
616	chr6_mann_hap4	4187209	4187210	rs7453920	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HAL-DQB2	rs7453920-G	0.83	6E-28		1.81	[1.62-2.01]	Illumina [423627]	N
616	chr6_mann_hap4	4187283	4187284	rs2051549	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	6p21.32	HLA-DQA2	rs2051549-?	NR	3E-22				Illumina [737984]	N
616	chr6_mann_hap4	4193887	4193888	rs9276606	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs9276606-T	0.15	3E-22	(Serum level of C4)	0.09	[0.070-0.110] g/L decrease	Illumina [1940245] (imputed)	N
617	chr6_mann_hap4	4199056	4199057	rs2621416	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2, TAP2	rs2621416-G	NR	2E-9	(FL)	1.57	[NR]	Affymetrix [530583]	N
617	chr6_mann_hap4	4220706	4220707	rs2857151	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	6p21.32	HLA-DOB, HLA-DQB2	rs2857151-G	0.76	5E-11		1.47	[1.23-1.77]	Illumina [463793]	N
617	chr6_mann_hap4	4254967	4254968	rs2228391	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA	rs2228391-C	0.108	4E-7	(trend)	3.32	[2.02-5.46] (allelic)	Affymetrix [522980]	N
617	chr6_mann_hap4	4255070	4255071	rs241436	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p21.32	TAP2	rs241436-G	0.49	8E-6	(men)	0.089	[0.05-0.128] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
617	chr6_mann_hap4	4255925	4255926	rs1015166	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	TAP2	rs1015166-T	NR	4E-22		2.1428		Illumina [514008]	N
617	chr6_mann_hap4	4261264	4261265	rs241428	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs241428-G	0.08	9E-83	(Serum level of C4)	0.23	[0.21-0.25] g/L increase	Illumina [1940245] (imputed)	N
617	chr6_mann_hap4	4267043	4267044	rs9357155	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	TAP2, TAP1, PSMB8, PSMB9	rs9357155-?	0.87 (EA)	2E-12		1.41	[NR]	Illumina [498322]	N
617	chr6_mann_hap4	4268824	4268825	rs2071543	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	PSMB9, TAP1, TAP2, PSMB8	rs2071543-G	0.80	2E-9	(East Asian)	1.41	[NR]	Illumina [> 1000000] (imputed)	N
617	chr6_mann_hap4	4309842	4309843	rs2187689	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	PSMB9	rs2187689-C	0.08	3E-8		0.23	[0.15-0.31] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4311888	4311889	rs10046257	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10046257-A	0.10	3E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4312908	4312909	rs6457690	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6457690-A	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4313572	4313573	rs1029296	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029296-C	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4313673	4313674	rs1029295	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029295-C	0.10	5E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4314125	4314126	rs6936004	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6936004-C	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4314610	4314611	rs10214886	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10214886-A	0.10	2E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4316903	4316904	rs7744666	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs7744666-C	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4316939	4316940	rs11969002	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs11969002-A	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4317943	4317944	rs9469300	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs9469300-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_mann_hap4	4319798	4319799	rs3749982	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs3749982-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
618	chr6_mann_hap4	4370456	4370457	rs1480380	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	NR	rs1480380-C	0.908	6E-7	(Modelling analysis)			NR [1252901] (imputed)	N
618	chr6_mann_hap4	4370456	4370457	rs1480380	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs1480380-T	0.0877	4E-39		3.05	[NR]	Illumina [242824]	N
618	chr6_mann_hap4	4371936	4371937	rs73396800	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs73396800-G	NR	4E-16		1.1904762	[NR]	Illumina [7158791] (imputed)	N
618	chr6_mann_hap4	4373061	4373062	rs16871226	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs16871226-G	0.0244821228239845	2E-6	(IGP67)	0.5182	[0.3-0.73] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_mann_hap4	4410496	4410497	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.87438328769575	7E-6	(IGP59)	0.2057	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_mann_hap4	4410496	4410497	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874270331235955	2E-6	(IGP42)	0.2151	[0.13-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr6_mann_hap4	4410496	4410497	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874157767431399	5E-6	(IGP2)	0.2092	[0.12-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr6_mann_hap4	4410496	4410497	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873857556055831	6E-6	(IGP16)	0.2057	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr6_mann_hap4	4410496	4410497	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873550828800713	6E-6	(IGP61)	0.206	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_mann_hap4	4410496	4410497	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873514573726542	3E-6	(IGP58)	0.2131	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_mann_hap4	4410496	4410497	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.872971129118433	6E-7	(IGP65)	0.2253	[0.14-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_mann_hap4	4418580	4418581	rs9500927	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DOA	rs9500927-T	0.26	4E-9		1.13	[1.09-1.18]	Illumina [458847]	N
618	chr6_mann_hap4	4429595	4429596	rs3128935	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	6p21.32	HLA-DOA	rs3128935-T	0.97	9E-6	(Age 20-60 years)	2.28	[1.59-3.28]	Affymetrix, Illumina [up to 17585496] (imputed)	N
618	chr6_mann_hap4	4430790	4430791	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	White wine liking	381 Carlantino individuals, 744 Friuli Venezia Giulia individuals, 1,115 Val Borbera individuals	1,261 Erasmus Rucphen Family individuals, 335 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	2E-8		0.0539	[NR] unit increase	Illumina [9969492] (imputed)	N
618	chr6_mann_hap4	4430790	4430791	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	Red wine liking	398 Carlantino individuals, 751 Friuli Venezia Giulia individuals, 1,122 Val Borbera individuals	1,246 Erasmus Rucphen Family individuals, 353 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	8E-6		0.0419	[NR] unit increase	Illumina [6967159] (imputed)	N
618	chr6_mann_hap4	4432124	4432125	rs378352	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DOA	rs378352-T	0.39	1E-23		1.26	[1.20-1.31]	Illumina [3680900] (imputed)	N
618	chr6_mann_hap4	4432204	4432205	rs399604	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.32	HLA-DOA	rs399604-C	NR	1E-10		2.346	[1.63-3.06] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
619	chr6_mann_hap4	4490561	4490562	rs3077	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPA1	rs3077-A	0.66	1E-53		1.45	[1.39-1.52]	Illumina [3680900] (imputed)	N
619	chr6_mann_hap4	4490561	4490562	rs3077	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs3077-?	NR	5E-39		1.89	[1.69-2.08]	Illumina [719265]	N
619	chr6_mann_hap4	4490561	4490562	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	4E-45	(Protective effects against CHB)	1.82	[1.67-1.96]	Affymetrix [597789]	N
619	chr6_mann_hap4	4490561	4490562	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	1E-9	(Clearance of HBV)	1.67	[1.43-2.0]	Affymetrix [597789]	N
619	chr6_mann_hap4	4490561	4490562	rs3077	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPA1	rs3077-G	0.60	2E-61		1.87	[1.73-2.01]	Illumina [423627]	N
619	chr6_mann_hap4	4500419	4500420	rs987870	21814517	Noguchi E	2011-07-21	PLoS Genet	Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.	Asthma	938 Japanese ancestry cases, 2,376 Japanese ancestry controls	1653 East Asian ancestry cases, 1453 East Asian ancestry controls	6p21.32	HLA, DPB1	rs987870-C	0.14	2E-10		1.4	[1.26-1.55]	Illumina [450326]	N
619	chr6_mann_hap4	4500419	4500420	rs987870	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1	rs987870-?	0.15	2E-20	(ATA positive)	2.09	[1.78-2.45]	Illumina [NR] (imputed)	N
619	chr6_mann_hap4	4506206	4506207	rs1042151	23180272	Park BL	2012-11-21	Hum Genet	Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.	Aspirin exacerbated respiratory disease in asthmatics	117 Korean ancestry cases, 685 Korean ancestry controls	142 Korean ancestry cases, 996 Korean ancestry controls	6p21.32	HLA-DPB1	rs1042151-G	0.083	5E-7		2.4	[1.68-3.42]	Illumina [430486]	N
619	chr6_mann_hap4	4512406	4512407	rs9277535	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-A	0.58	1E-70		1.52	[1.45-1.59]	Illumina [3680900] (imputed)	N
619	chr6_mann_hap4	4512406	4512407	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.251	5E-14		1.59	[1.41-1.79]	Illumina [456262]	N
619	chr6_mann_hap4	4512406	4512407	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
619	chr6_mann_hap4	4512406	4512407	rs9277535	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs9277535-?	NR	4E-40		1.89	[1.72-2.08]	Illumina [719265]	N
619	chr6_mann_hap4	4512406	4512407	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-21	(Protective effects against CHB)	1.64	[1.47-1.82]	Affymetrix [597789]	N
619	chr6_mann_hap4	4512406	4512407	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-17	(Clearance of HBV)	1.52	[1.37-1.67]	Affymetrix [597789]	N
619	chr6_mann_hap4	4512406	4512407	rs9277535	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DPB1	rs9277535-?	NR	3E-12		1.39	[1.23-1.59]	Illumina [455508]	N
619	chr6_mann_hap4	4512406	4512407	rs9277535	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.57	3E-54		1.77	[1.65-1.91]	Illumina [423627]	N
619	chr6_mann_hap4	4512406	4512407	rs9277535	19349983	Kamatani Y	2009-04-06	Nat Genet	A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.	Hepatitis B	179 Japanese ancestry cases, 934 Japanese ancestry controls	1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls	6p21.32	HLA-DPB1	rs9277535-G		6E-39		1.75	[1.61-1.92]	Illumina [499544]	N
619	chr6_mann_hap4	4513083	4513084	rs9277554	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	6p21.32	HLA-DOA, HSD17B8, RING1, COL11A2, RXRB, HLA-DPB1*04, HLA-DPB1, HLA-DPB2	rs9277554-C	0.708	2E-50		4.17	[3.33-5.00]	Illumina [287802]	N
619	chr6_mann_hap4	4513150	4513151	rs9277555	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	6p21.32	NR	rs9277555-G		6E-7		0.0199	[0.010-0.030] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
619	chr6_mann_hap4	4517663	4517664	rs2281388	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DPB1	rs2281388-T	0.32	2E-65		1.64	[1.55-1.74]	Illumina [486049]	N
619	chr6_mann_hap4	4518367	4518368	rs6928954	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	6p21.32	intergenic	rs6928954-?	0.023	1E-6		0.075	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
619	chr6_mann_hap4	4527438	4527439	rs3117242	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	6p21.32	HLA-DP, COL11A2	rs3117242-?	NR	1E-71		3.67	[NR]	Affymetrix [NR]	N
619	chr6_mann_hap4	4529719	4529720	rs4282438	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	COL11A2, HLA-DPB1, HLA-DPA1	rs4282438-G	0.3546	9E-25		1.58	[1.45-1.72]	Affymetrix [556134]	N
619	chr6_mann_hap4	4529719	4529720	rs4282438	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	HLA-DPB2	rs4282438-?	0.56	5E-27	(Stringently Matched)	1.35	[1.27-1.41]	Affymetrix [563339]	N
619	chr6_mann_hap4	4539854	4539855	rs733208	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Thyroid peroxidase antibody positivity	377 Korean ancestry cases, 3,019 Korean ancestry anti-TPO controls	108 Korean ancestry cases, 734 Korean ancestry controls	6p21.32	HLA-DPB2	rs733208-A	0.30	4E-7		1.435	[1.30-1.57]	Affymetrix [1418709] (imputed)	N
619	chr6_mann_hap4	4543833	4543834	rs3117035	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	6p21.32	intergenic	rs3117035-A	0.48	1E-6		0.14	[0.08-0.20] unit decrease	Illumina [~ 318327]	N
619	chr6_mann_hap4	4544032	4544033	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs1883414-G	0.68	2E-11		1.22	[NR]	Illumina [> 1000000] (imputed)	N
619	chr6_mann_hap4	4544032	4544033	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB1, HLA-DPA1, HLA-DPB2	rs1883414-G	0.68	5E-7	(EA)	1.2	[NR]	Illumina [> 1000000] (imputed)	N
619	chr6_mann_hap4	4544032	4544033	rs1883414	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1, HLA-DPB2	rs1883414-?	0.67 (EA)	5E-9		1.28	[NR]	Illumina [498322]	N
619	chr6_mann_hap4	4547219	4547220	rs3117027	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DPB2	rs3117027-?	NR	1E-7		1.25	[1.15-1.36]	Illumina [632668]	N
619	chr6_mann_hap4	4554875	4554876	rs3129269	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs3129269-C	NR	5E-7	(East Asian)	1.29	[NR]	Illumina [> 1000000] (imputed)	N
619	chr6_mann_hap4	4561444	4561445	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPA3	rs9366816-C	0.414	3E-10		1.43	[1.28-1.60]	Illumina [456262]	N
619	chr6_mann_hap4	4561444	4561445	rs9366816	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
620	chr6_mann_hap4	4601263	4601264	rs2254287	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	6p21.32	B3GALT4	rs2254287-G	0.38	5E-8		1.91	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
620	chr6_mann_hap4	4661601	4661602	rs9277952	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	intergenic	rs9277952-?	0.53	2E-9	(Matched)	1.18	[1.12-1.23]	Affymetrix [563339]	N
585	chr6_ssto_hap7	116879	116880	rs4324798	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p22.1	TRNAA-UGC	rs4324798-A	0.09	2E-8		1.16	[1.09-1.24]	Illumina [515922]	N
586	chr6_ssto_hap7	237827	237828	rs2015436	26087016	Pappa I	2015-06-18	Am J Med Genet B Neuropsychiatr Genet	A genome-wide approach to children's aggressive behavior: The EAGLE consortium.	Childhood and early adolescence aggressive behavior	18,988 European ancestry individuals	NA	6p22.1	TRIM27	rs2015436-T	0.73	2E-6				Affymetrix, Illumina [up to 3856236] (imputed)	N
586	chr6_ssto_hap7	257161	257162	rs4947339	20526338	Johnson AD	2010-06-06	Nat Genet	Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.	Platelet aggregation	Up to 3,991 European ancestry individuals	Up to 840 African American individuals	6p22.1	TRIM27	rs4947339-T	0.438	2E-6	(epinehprine)			Affymetrix, Illumina [~ 2330000] (imputed)	N
588	chr6_ssto_hap7	425115	425116	rs3129109	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p22.1	OR2J3	rs3129109-T	0.39	2E-17		0.032	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
588	chr6_ssto_hap7	521650	521651	rs9257616	24047820	St Pourcain B	2013-09-18	Mol Autism	Common variation contributes to the genetic architecture of social communication traits.	Social communication problems	5,584 European ancestry children	1,364 European ancestry children	6p22.1	OR2J2, TRIM27, ZNF311, OR2W1, OR2B3, LOC651503, OR214J1, OR5V1, OR12D3, OR2J3	rs9257616-G	0.56	3E-7		0.093	[0.058-0.128] unit increase	Illumina [~ 2500000] (imputed)	N
589	chr6_ssto_hap7	585140	585141	rs144447022	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs144447022-G	NR	2E-28		1.25	[NR]	Illumina [7158791] (imputed)	N
590	chr6_ssto_hap7	692429	692430	rs9378134	23393555	Jensen RA	2013-02-05	PLoS One	Genome-wide association study of retinopathy in individuals without diabetes.	Retinopathy in non-diabetics	19,411 European ancestry individuals	NA	6p22.1	OR12D3	rs9378134-A	0.04	3E-6		0.49	[0.29-0.69] unit increase	Illumina [2675979] (imputed)	N
590	chr6_ssto_hap7	695864	695865	rs3094548	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p22.1	OR12D2	rs3094548-G	NR	1E-7	(FEV1)	0.029	[0.019-0.039] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
590	chr6_ssto_hap7	696993	696994	rs9257809	22961001	Su Z	2012-09-09	Nat Genet	Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.	Barrett's esophagus	Up to 1,852 European ancestry cases, 5,172 European ancestry controls	5,986 European ancestry cases, 12,825 European ancestry controls	6p22.1	OR2D12, OR2D13, MHC	rs9257809-A	0.87	4E-9		1.21	[1.13-1.28]	Illumina [521744]	N
590	chr6_ssto_hap7	727536	727537	rs16894878	25918132	Yucesoy B	2015-04-26	Toxicol Sci	Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.	Diisocyanate-induced asthma	74 European ancestry cases, 824 European ancestry controls	NA	6p22.1	OR12D1P, OR11A1	rs16894878-A	0.001	1E-6		34.08	[3.52-329.69]	Illumina [1556551]	N
590	chr6_ssto_hap7	774947	774948	rs4713226	22610502	Kennedy RB	2012-05-19	Hum Genet	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Immune reponse to smallpox (secreted IFN-alpha)	Up to 512 European ancestry individuals, up to 199 African American individuals	NA	6p22.1	OR2H1	rs4713226-A		2E-8	(AA)			Illumina [NR]	N
591	chr6_ssto_hap7	802261	802262	rs1233491	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	MAS1L	rs1233491-C	0.088	8E-10		2.2	[1.58-3.08]	Affymetrix [906600]	N
591	chr6_ssto_hap7	861435	861436	rs16895057	23456168	Hao Y	2013-03-03	Hum Genet	Genome-wide association study in Han Chinese identifies three novel loci for human height.	Height	6,534 Han Chinese ancestry individuals	1,881 Han Chinese ancestry individuals from 637 families	6p22.1	OR2I1P	rs16895057-T	0.95	3E-6		0.153	[0.088-0.218] unit increase	Affymetrix [1532051] (imputed)	N
592	chr6_ssto_hap7	947603	947604	rs3095267	23793025	Anttila V	2013-06-23	Nat Genet	Genome-wide meta-analysis identifies new susceptibility loci for migraine.	Migraine without aura	7,107 European ancestry cases, 69,427 European ancestry controls	NA	6p22.1	intergenic	rs3095267-?	0.81	9E-6		1.12	[1.06-1.18]	Affymetrix, Illumina [~ 2300000] (imputed)	N
592	chr6_ssto_hap7	951988	951989	rs29232	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	GABBR1	rs29232-A	0.46	9E-17		1.67	[1.48-1.88]	Illumina [480365]	N
592	chr6_ssto_hap7	966871	966872	rs2252711	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p22.1	MOG	rs2252711-T	NR	4E-7	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
592	chr6_ssto_hap7	990097	990098	rs385492	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p22.1	NR	rs385492-T	NR	1E-8		1.06	[NR]	Illumina [7158791] (imputed)	N
592	chr6_ssto_hap7	1004446	1004447	rs3131888	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	1,505 Ashkenazi Jewish founder cases, 2,553 Ashkenazi Jewish founder controls	NA	6p22.1	NR	rs3131888-C	NR	7E-6		1.2820514	[NR]	Illumina [up to 9792010] (imputed)	N
592	chr6_ssto_hap7	1010816	1010817	rs3129055	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-F	rs3129055-G	0.31	7E-11		1.51	[1.34-1.71]	Illumina [480365]	N
592	chr6_ssto_hap7	1043421	1043422	rs2523393	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p22.1	HLA-B	rs2523393-A	0.59	1E-17		1.28	[1.18-1.39]	Affymetrix, Illumina [~ 2560000] (imputed)	N
593	chr6_ssto_hap7	1060895	1060896	rs9258260	22412388	Kenny EE	2012-03-08	PLoS Genet	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.	Crohn's disease	737 Ashkenazi Jewish cases, 2,257  Ashkenazi Jewish controls	971 Ashkenazi Jewish cases, 2,124 Ashkenazi Jewish controls	6p22.1	UBD, HLA-A, HLA-G, HLA-F, MOG, GABBR1, HLA-H	rs9258260-T	0.104	2E-10		1.45	[1.21-1.68]	Affymetrix, Illumina [1060934] (imputed)	N
593	chr6_ssto_hap7	1165688	1165689	rs2523822	21570397	Lucena MI	2011-04-12	Gastroenterology	Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.	Drug-induced liver injury (amoxicillin-clavulanate)	201 European ancestry cases, 532 European ancestry controls	NA	6p22.1	HLA-A	rs2523822-?	NR	2E-10		2.3	[1.80-2.90]	Illumina [822927]	N
594	chr6_ssto_hap7	1180957	1180958	rs2523809	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-G	rs2523809-T	NR	4E-8		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
594	chr6_ssto_hap7	1203757	1203758	rs189370103	26053186	Park SL	2015-06-08	PLoS One	Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.	3-hydroxypropylmercapturic acid levels in smokers	362 African American current smoker individuals, 329 Native Hawaiian ancestry current smoker individuals, 438 European ancestry current smoker individuals, 449 Latino current smoker individuals, 704 Japanese ancestry current smoker individuals	NA	6p22.1	NR	rs189370103-?	NR	8E-6	(Native Hawaiian)	1.0607	[NR] unit increase	Illumina [up to 11892802] (imputed)	N
594	chr6_ssto_hap7	1230890	1230891	rs2524005	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p22.1	other genes, MHC	rs2524005-?	NR	5E-7		1.32	[NR]	Affymetrix [745006]	N
594	chr6_ssto_hap7	1236024	1236025	rs2860580	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p22.1	HLA-A	rs2860580-?	0.62	5E-67		1.72	[1.61-1.82]	Illumina [464328]	N
594	chr6_ssto_hap7	1242648	1242649	rs1061235	21428769	McCormack M	2011-03-24	N Engl J Med	HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.	Adverse response to carbamapezine	65 European ancestry cases, 3,987 European ancestry controls	80 European ancestry cases, 257 European ancestry controls		HLA-A*3101	rs1061235-?	NR	1E-7		9.12	[4.03-20.65]	Illumina [~ 1200000] (imputed)	N
594	chr6_ssto_hap7	1247419	1247420	rs2517713	19664746	Tse KP	2009-08-05	Am J Hum Genet	Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.	Nasopharyngeal carcinoma	277 Han Chinese ancestry cases, 285 Han Chinese ancestry controls	635 Han Chinese ancestry cases, 1,640 Han Chinese ancestry controls	6p22.1	HLA-A	rs2517713-A	0.62	4E-20		1.88	[1.65-2.15]	Illumina [480365]	N
594	chr6_ssto_hap7	1249660	1249661	rs9260489	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	HLA-A	rs9260489-G	0.58	2E-22		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
594	chr6_ssto_hap7	1249660	1249661	rs9260489	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p22.1	HLA-B	rs9260489-T	0.45	1E-11		1.21	[NR]	Affymetrix, Illumina [2529394]	N
594	chr6_ssto_hap7	1252074	1252075	rs16896742	25231870	Perry JR	2014-07-23	Nature	Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.	Menarche (age at onset)	Up to 182,413 European ancestry females	NA	6p22.1	HLA-A	rs16896742-G	0.38	3E-10		0.04	[0.028-0.052] unit increase	Affymetrix, Illumina [2441815] (imputed)	N
594	chr6_ssto_hap7	1253198	1253199	rs2571391	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p22.1	HLA-A	rs2571391-C	NR	1E-15		0.06	[NR] unit increase	Affymetrix [2540223] (imputed)	N
594	chr6_ssto_hap7	1263483	1263484	rs6935053	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p22.1	HCG9	rs6935053-?	NR	2E-6	(Conditioned on rs9271366)			Illumina [581060]	N
594	chr6_ssto_hap7	1264569	1264570	rs3893464	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs3893464-G	0.36	2E-20		1.53	[1.39-1.67]	Perlegen [268068]	N
594	chr6_ssto_hap7	1271258	1271259	rs2523946	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p22.1	NR	rs2523946-C	0.511	5E-11		1.317	[1.217-1.426]	Illumina [3792949] (imputed)	N
594	chr6_ssto_hap7	1271258	1271259	rs2523946	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p22.1	HLA-A	rs2523946-C	0.50	2E-11		1.21	[1.15-1.28]	Illumina [444882]	N
594	chr6_ssto_hap7	1271398	1271399	rs3823355	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p22.1	HLA-A, HCG9	rs3823355-T	0.29	9E-23		1.5	[1.39-1.63]	Illumina [520460]	N
594	chr6_ssto_hap7	1272390	1272391	rs6904029	24939585	Fransen E	2014-06-18	Eur J Hum Genet	Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.	Age-related hearing impairment	1,489 European ancestry individuals	NA	6p22.1	HLA-A29.1, HCG9	rs6904029-?		3E-6	(PC3)	0.0464	[NR] unit decrease	Illumina [4167292] (imputed)	N
594	chr6_ssto_hap7	1299915	1299916	rs7758512	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	HLA-A, ZNRD1, RNF39	rs7758512-?	NR	2E-8	(progression)			Illumina [NR]	N
594	chr6_ssto_hap7	1303252	1303253	rs4313034	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p22.1	MHC	rs4313034-T	0.83	2E-15		1.67	[1.47-1.90]	Perlegen [268068]	N
595	chr6_ssto_hap7	1347504	1347505	rs6917603	22286219	Kettunen J	2012-01-29	Nat Genet	Genome-wide association study identifies multiple loci influencing human serum metabolite levels.	Lipid metabolism phenotypes	8,330 European ancestry individuals	NA	6p22.1	PPP1R11	rs6917603-?	NR	3E-29	(XXL-VLDL-P)	0.24	[0.2-0.28] unit decrease	Illumina [~ 7700000] (imputed)	N
595	chr6_ssto_hap7	1355945	1355946	rs259919	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	ZNRD1, C6orf12	rs259919-?	NR	3E-7	(setpoint)			Illumina [NR]	N
595	chr6_ssto_hap7	1362961	1362962	rs8321	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs8321-?	NR	8E-9	(5 degree of freedom test)	1.081	[1.04-1.12]	NR [1252901] (imputed)	N
595	chr6_ssto_hap7	1362961	1362962	rs8321	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p22.1	ZNRD1, RNF39	rs8321-G	NR	5E-7				Illumina [291119]	N
595	chr6_ssto_hap7	1406313	1406314	rs2023472	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p22.1	TRIM31	rs2023472-A	0.38	3E-15		0.03	[0.022-0.038] unit increase	Affymetrix [2500000] (imputed)	N
595	chr6_ssto_hap7	1408719	1408720	rs2523989	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p22.1	TRIM31	rs2523989-A	NR	2E-8		1.7499		Illumina [514008]	N
595	chr6_ssto_hap7	1410812	1410813	rs34704616	20125193	Cirulli ET	2010-02-03	Eur J Hum Genet	Common genetic variation and performance on standardized cognitive tests.	Cognitive performance	Up to 813 European ancestry individuals, up to 167 East Asian ancestry individuals, up to 7 Hispanic/Latin American individuals, up to 74 South Asian ancestry individuals	NA	6p22.1	XXbac-BPG250I8.13	rs34704616-?	NR	6E-6	(Colorword)			Illumina [up to 563855]	N
595	chr6_ssto_hap7	1423811	1423812	rs10947055	21348951	Parsa A	2011-02-01	Clin Transl Sci	Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.	Cardiac hypertrophy	851 Old Order Amish individuals	NA	6p22.1	TRIM38	rs10947055-?	NR	2E-7	(additive, recessive)			Affymetrix [361034]	N
596	chr6_ssto_hap7	1450335	1450336	rs9468692	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p22.1	TRIM10	rs9468692-?	NR	1E-6	(setpoint)			Illumina [NR]	N
596	chr6_ssto_hap7	1495678	1495679	rs2523722	22883433	Irish Schizophrenia Genomics Consortium & the Wellcome Trust Case Control Consortium 2	2012-08-07	Biol Psychiatry	Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.	Schizophrenia	1,606 European ancestry cases, 1,794 European ancestry controls	13,195 European ancestry cases, 31,021 European ancestry controls	6p22.1	MHC, TRIM26	rs2523722-G	0.737	1E-16		1.25	[1.12-1.39]	Affymetrix [6212339]	N
596	chr6_ssto_hap7	1504537	1504538	rs2021722	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p22.1	MHC region	rs2021722-?	0.789	2E-12	(Modelling analysis)			NR [1252901] (imputed)	N
596	chr6_ssto_hap7	1504537	1504538	rs2021722	21926974	Ripke S	2011-09-18	Nat Genet	Genome-wide association study identifies five new schizophrenia loci.	Schizophrenia	9,394 European ancestry cases, 12,462 European ancestry controls	8,442 European ancestry cases, 21,397 European ancestry controls	6p22.1	TRIM26	rs2021722-C	0.78	2E-12		1.15	[1.11-1.19]	Affymetrix, Illumina [1252901] (imputed)	N
596	chr6_ssto_hap7	1509835	1509836	rs2844775	24489884	Mick E	2014-01-01	PLoS One	Genome-wide association study of proneness to anger.	Anger	8,747 European ancestry individuals	NA	6p22.1	TRIM31, TRIM10, PPP1R11, TRIM40, TRIM15, HLA-A29.1, TRIM26, HCG9, ZNRD1, RNF39	rs2844775-A	0.25	8E-7	(Temperament)	0.15	[NR] unit decrease	Affymetrix [677643]	N
597	chr6_ssto_hap7	1629222	1629223	rs3094067	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p22.1	TRIM39, RPP21	rs3094067-G	0.096	2E-11		2.32	[1.68-3.20]	Affymetrix [906600]	N
597	chr6_ssto_hap7	1643317	1643318	rs6986	25646338	Mozaffarian D	2014-12-10	Am J Clin Nutr	Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.	Trans fatty acid levels	8,013 European ancestry individuals	1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals	6p22.1	NR	rs6986-C	0.2277	5E-6	(Trans-16:1n-7, EA)	0.0079	[0.0046-0.0112] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
599	chr6_ssto_hap7	1869883	1869884	rs3132613	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs3132613-C	0.25	1E-13		1.43	[1.30-1.57]	Perlegen [268068]	N
600	chr6_ssto_hap7	1998975	1998976	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937946818961625	6E-7	(IGP19)	0.3471	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_ssto_hap7	1998975	1998976	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937725588025022	3E-6	(IGP74)	0.3262	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_ssto_hap7	1998975	1998976	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937641317877842	2E-6	(IGP75)	0.3304	[0.19-0.47] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_ssto_hap7	1998975	1998976	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937418950958538	3E-6	(IGP69)	0.3228	[0.19-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_ssto_hap7	1998975	1998976	rs9468811	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9468811-C	0.937308425901202	5E-7	(IGP76)	0.3469	[0.21-0.48] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_ssto_hap7	2011933	2011934	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107712365538735	8E-6	(IGP65)	0.2214	[0.12-0.32] unit decrease	Illumina [~ 2500000] (imputed)	N
600	chr6_ssto_hap7	2011933	2011934	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107418420152946	8E-6	(IGP2)	0.2231	[0.13-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_ssto_hap7	2011933	2011934	rs3094093	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs3094093-T	0.107325880449438	3E-6	(IGP42)	0.2336	[0.14-0.33] unit increase	Illumina [~ 2500000] (imputed)	N
600	chr6_ssto_hap7	2095571	2095572	rs3131060	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	FLOT1	rs3131060-A	0.112	1E-13		2.3	[1.71-3.11]	Affymetrix [906600]	N
601	chr6_ssto_hap7	2099215	2099216	rs4587207	25469926	Gottlieb DJ	2014-12-02	Mol Psychiatry	Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.	Sleep duration	47,180 European ancestry individuals	4,771 African American individuals	6p21.33	FLOT1, LINC00243, IER3	rs4587207-G	0.20	2E-8	(EA)	3.14	[2.04-4.24] unit decrease	Affymetrix, Illumina [2033301]	N
601	chr6_ssto_hap7	2114274	2114275	rs886424	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	IER3, DDR1	rs886424-A	NR	3E-14		2.2107		Illumina [514008]	N
601	chr6_ssto_hap7	2114274	2114275	rs886424	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.33	other genes, MHC	rs886424-?	NR	9E-7		1.37	[NR]	Affymetrix [745006]	N
601	chr6_ssto_hap7	2127400	2127401	rs7772131	22566498	Turner ST	2012-05-07	Hypertension	Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.	Response to angiotensin II receptor blocker therapy	198 European ancestry hypertensive individuals, 193 African American hypertensive individuals	NA	6p21.33	C6orf214	rs7772131-?	NR	3E-6	(AA)	6.73	[0.89-12.57] unit decrease	Affymetrix [~ 2300000] (imputed)	N
601	chr6_ssto_hap7	2130220	2130221	rs7749924	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs7749924-C	0.851598582628062	8E-6	(IGP32)	0.2204	[0.12-0.32] unit increase	Illumina [~ 2500000] (imputed)	N
601	chr6_ssto_hap7	2131627	2131628	rs9501030	20848476	Haritunians T	2010-11-01	Inflamm Bowel Dis	Genetic predictors of medically refractory ulcerative colitis.	Ulcerative colitis	324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls	NA	6p21.33	IER3, GTF2H4, FLOT1, VARS2, MIR588, DDR1	rs9501030-A	NR	4E-6	(Analysis II)			Illumina [313720]	N
602	chr6_ssto_hap7	2308449	2308450	rs28360974	23551011	Zhao L	2013-04-02	Ann Hum Genet	Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.	Preeclampsia	21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls	NA	6p21.33	MUC21	rs28360974-?	NR	3E-6	(Afro-Caribbean)	10.13	[3.85-26.67]	Illumina [2485249] (imputed)	N
602	chr6_ssto_hap7	2334356	2334357	rs7768644	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs7768644-A	0.091	3E-13	(trend)	5.01	[3.1-8.1] (allelic)	Affymetrix [522980]	N
602	chr6_ssto_hap7	2334871	2334872	rs4248154	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.33	MHC	rs4248154-C	0.54	1E-13		1.38	[1.27-1.50]	Perlegen [268068]	N
602	chr6_ssto_hap7	2339109	2339110	rs2844665	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	C6orf205	rs2844665-C	0.62	3E-7		1.54	[1.30-1.82]	Illumina [268914]	N
602	chr6_ssto_hap7	2351954	2351955	rs2251830	25429064	He M	2014-11-26	Hum Mol Genet	Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.	Height	36,227 East Asian ancestry individuals	57,699 East Asian ancestry individuals	6p21.33	HCG22	rs2251830-A	0.36	5E-22		0.053	[0.041-0.065] unit increase	Affymetrix, Illumina [2704730] (imputed)	N
602	chr6_ssto_hap7	2353384	2353385	rs2517532	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.33	HLA-C, LOC729792, HCG22, C6orf15, DHFRP2, HCP5, HLA-B	rs2517532-G	0.597	1E-8		1.16	[1.10-1.22]	Illumina [870065]	N
602	chr6_ssto_hap7	2353523	2353524	rs2523864	25813999	Jeong S	2015-04-01	Invest Ophthalmol Vis Sci	Identification of a Novel Mucin Gene HCG22 Associated with Steroid-Induced Ocular Hypertension.	Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)	64 European ancestry individuals	49 European ancestry individuals	6p21.33	HCG22, HLA-A, HLA-B, MUC22	rs2523864-T	0.412	5E-9				Illumina [1545328]	N
603	chr6_ssto_hap7	2359573	2359574	rs9262631	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs9262631-A	0.063	6E-19	(trend)	7.09	[4.32-11.63] (allelic)	Affymetrix [522980]	N
603	chr6_ssto_hap7	2359780	2359781	rs9262632	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs9262632-G	0.10	1E-8	(AA)	3.1	[NR]	Illumina [1384048] (imputed)	N
603	chr6_ssto_hap7	2365090	2365091	rs2517510	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs2517510-T		4E-13	(WBC)	0.0129	[0.0094-0.0164] unit decrease	Affymetrix, Illumina [> 2400000] (imputed)	N
603	chr6_ssto_hap7	2393168	2393169	rs4947296	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	HCG22	rs4947296-?	NR	1E-11		2.57	[1.96-3.37]	Affymetrix [661736]	N
603	chr6_ssto_hap7	2393168	2393169	rs4947296	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	MUC21, C6orf15	rs4947296-C	0.14	4E-51		1.77	[1.65-1.91]	Illumina [486049]	N
603	chr6_ssto_hap7	2393330	2393331	rs3130544	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	PSORS1C1, MUC21, HCG22, C6orf15, CCHCR1, CDSN, PSORS1C2	rs3130544-A	NR	5E-7	(WBC)	0.0189	[0.011-0.026] unit decrease	Illumina [544917]	N
603	chr6_ssto_hap7	2393330	2393331	rs3130544	23055271	Gregersen PK	2012-07-16	Ann Neurol	Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08.	Myasthenia gravis	400 European ancestry cases, 5,505 European ancestry controls	249 European ancestry cases, 3,415 European ancestry controls	6p21.33	NR	rs3130544-A	0.13	2E-90		5.64	[4.77-6.67]	Illumina [274256]	N
603	chr6_ssto_hap7	2393330	2393331	rs3130544	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3130544-A	0.1238	9E-58		3.34	[NR]	Illumina [242824]	N
603	chr6_ssto_hap7	2404540	2404541	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (cisplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		5E-6				NR [~ 3000000] (imputed)	N
603	chr6_ssto_hap7	2404540	2404541	rs9263567	21844884	Wheeler	2011-08-16	Pharmacogenomics J	Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations	Response to platinum-based chemotherapy (carboplatin)	176 Sub-Saharan African ancestry lymphoblastoid cell lines, 83 African ancestry lymphoblastoid cell lines, 175 East Asian ancestry lymphoblastoid cell lines, 174 European ancestry lymphoblastoid cell lines	NA	6p21.33	intergenic	rs9263567-?		2E-6				NR [~ 3000000] (imputed)	N
603	chr6_ssto_hap7	2408962	2408963	rs6457327	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.33	C6orf15	rs6457327-C	0.56	7E-6	(FL)	1.47	[1.27-1.72]	Illumina [312768]	N
603	chr6_ssto_hap7	2408962	2408963	rs6457327	19620980	Skibola CF	2009-07-20	Nat Genet	Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.	Follicular lymphoma	189 European ancestry cases, 592 European controls	456 European ancestry cases, 2,785 European ancestry controls	6p21.33	STG, PSORS1	rs6457327-C	0.62	5E-11		1.69	[1.43-2.00]	Illumina [~ 500000]	N
603	chr6_ssto_hap7	2464245	2464246	rs7750641	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	TCF19	rs7750641-T	0.1263	3E-58		3.35	[NR]	Illumina [242824]	N
603	chr6_ssto_hap7	2465528	2465529	rs1419881	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	TCF19	rs1419881-G	0.55	3E-7		1.12	[1.08-1.18]	Illumina [3680900] (imputed)	N
603	chr6_ssto_hap7	2465528	2465529	rs1419881	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	TCF19	rs1419881-?	NR	1E-18		1.37	[1.23-1.52]	Illumina [719265]	N
603	chr6_ssto_hap7	2469839	2469840	rs3130931	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130931-C	0.69	8E-7		1.54	[1.29-1.84]	Illumina [268914]	N
603	chr6_ssto_hap7	2471405	2471406	rs3130501	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3130501-G	0.74	2E-8		1.74	[1.43-2.13]	Illumina [268914]	N
603	chr6_ssto_hap7	2471666	2471667	rs3132524	24509480	Mahajan A	2014-02-09	Nat Genet	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Type 2 diabetes	12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls	21,491 European ancestry cases, 55,647 European ancestry controls	6p21.33	TCF19, POU5F1	rs3132524-G		4E-9		1.07	[1.04-1.09]	Affymetrix, Illumina [2500000] (imputed)	N
603	chr6_ssto_hap7	2474403	2474404	rs879882	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs879882-?	NR	2E-7	(Conditioned on rs2256183)		[NR]	Affymetrix, Illumina [2834208] (imputed)	N
603	chr6_ssto_hap7	2474998	2474999	rs1265159	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs1265159-T	0.2191	4E-37		2.42	[NR]	Illumina [242824]	N
603	chr6_ssto_hap7	2477196	2477197	rs3094188	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.33	PSORS1C3	rs3094188-C	0.280	7E-7		1.61	[1.33-1.94]	Illumina [4929034] (imputed)	N
603	chr6_ssto_hap7	2477196	2477197	rs3094188	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	POU5F1	rs3094188-A	0.63	3E-8		1.59	[1.34-1.88]	Illumina [268914]	N
603	chr6_ssto_hap7	2478534	2478535	rs3131018	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	PSORS1C3	rs3131018-C	0.625	4E-16	(EA)	2.1	[NR]	Illumina [1384048] (imputed)	N
604	chr6_ssto_hap7	2490732	2490733	rs1265181	19169255	Zhang XJ	2009-01-25	Nat Genet	Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.	Psoriasis	1,139 Han Chinese ancestry cases, 1,132 Han Chinese ancestry controls	5,721 Chinese ancestry cases, 7,340 Chinese ancestry controls	6p21.33	MHC	rs1265181-?	NR	2E-208		22.62		Illumina [494902]	N
604	chr6_ssto_hap7	2502973	2502974	rs6903896	20585627	Eriksson N	2010-06-24	PLoS Genet	Web-based, participant-driven studies yield novel genetic associations for common traits.	Common traits (Other)	9,126 European ancestry individuals	NA	6p21.33	NR	rs6903896-?	NR	6E-7	(sneeze)			Illumina [535076]	N
604	chr6_ssto_hap7	2505469	2505470	rs9263871	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.33	HCG27	rs9263871-G	NR	9E-6	(Dominant)	1.7	[1.35-2.13]	Affymetrix, Illumina [1621689] (imputed)	N
604	chr6_ssto_hap7	2519124	2519125	rs3869109	22319020	Davies RW	2012-02-07	Circ Cardiovasc Genet	A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.	Coronary heart disease	7,123 European ancestry cases, 6,826 European ancestry controls	5,211 European ancestry cases, 5,821 European ancestry controls	6p21.33	HCG27, HLA-C	rs3869109-G	NR	1E-9		1.14	[NR]	Affymetrix [~ 5000000] (imputed)	N
604	chr6_ssto_hap7	2520964	2520965	rs9263963	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs9263963-T	0.113293342563644	1E-6	(IGP23)	0.2567	[0.15-0.36] unit increase	Illumina [~ 2500000] (imputed)	N
604	chr6_ssto_hap7	2532467	2532468	rs3130941	24324648	Yatagai Y	2013-12-04	PLoS One	Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.	IgE levels	967 Japanese ancestry individuals, 213 Japanese ancestry asthmatic individuals	1,894 Japanese ancestry individuals, 580 Japanese ancestry asthmatic individuals	6p21.33	HCG27, HLA-C	rs3130941-C	0.25	1E-10		0.098	unit increase	Illumina [479940]	N
604	chr6_ssto_hap7	2555153	2555154	rs3095254	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Monocyte count	9,810 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,369 African American individuals	NA	6p21.33	MHC	rs3095254-C	0.461	8E-9	(Japanese)	0.035	[0.023-0.047] unit increase	Illumina [NR] (imputed)	N
604	chr6_ssto_hap7	2555153	2555154	rs3095254	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs3095254-C	0.46	6E-11	(monocyte count)	0.074	[0.05-0.09] unit increase	Illumina [2178645] (imputed)	N
604	chr6_ssto_hap7	2565584	2565585	rs3130542	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.16	9E-7		1.17	[1.10-1.24]	Illumina [3680900] (imputed)	N
604	chr6_ssto_hap7	2565584	2565585	rs3130542	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.33	HLA-C	rs3130542-A	0.13	9E-14		1.33	[1.23-1.44]	Illumina [490610]	N
604	chr6_ssto_hap7	2568983	2568984	rs2853953	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	HLA-C	rs2853953-A	0.9	5E-20		1.47	[1.35-1.59]	Illumina [3680900] (imputed)	N
604	chr6_ssto_hap7	2571790	2571791	rs9264638	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals			HLA-C	rs9264638-A	0.58	2E-23		0.04	[0.032-0.048] unit decrease	Affymetrix [2500000] (imputed)	N
604	chr6_ssto_hap7	2573894	2573895	rs2074488	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	HLA-C	rs2074488-T	0.13	2E-10	(SP-D)			Illumina [588352]	N
604	chr6_ssto_hap7	2574571	2574572	rs13191343	20953186	Huffmeier U	2010-10-17	Nat Genet	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	Psoriatic arthritis	572 European ancestry cases, 888 European ancestry controls	Up to 1,761 European ancestry cases, 3,727 European ancestry controls	6p21.33	HLA-C	rs13191343-T	0.13	2E-72		2.37	[2.16-2.61]	Affymetrix [1585307] (imputed)	N
604	chr6_ssto_hap7	2575613	2575614	rs2524079	21738480	Nalls MA	2011-07-01	PLoS Genet	Multiple loci are associated with white blood cell phenotypes.	White blood cell count	19,509 European ancestry individuals	11,823 European ancestry individuals	6p21.33	PSORS1C3, HCG27, HLA-C, HLA-B	rs2524079-A		1E-11	(Lymphocytes)	0.0148	[0.010-0.019] unit increase	Affymetrix, Illumina [> 2400000] (imputed)	N
604	chr6_ssto_hap7	2578400	2578401	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma and monoclonal gammopathy	2,194 European ancestry multiple myeloma cases, 251 European ancestry monoclonal gammopathy cases, 294,390 European ancestry controls	586 European ancestry multiple myeloma cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	6E-10		0.23	[NR] unit increase	Illumina [12100000] (imputed)	N
604	chr6_ssto_hap7	2578400	2578401	rs6919908	26007630	Swaminathan B	2015-05-26	Nat Commun	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	Multiple myeloma	2,194 European ancestry cases, 222,555 European ancestry controls	586 European ancestry cases, 2,111 European ancestry controls	6p21.33	PSORS1C2, HLA	rs6919908-T	0.23	4E-10		0.25	[NR] unit increase	Illumina [12100000] (imputed)	N
604	chr6_ssto_hap7	2580632	2580633	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.717	8E-6	(Japanese)	0.013	[0.0071-0.0189] unit decrease	Illumina [NR] (imputed)	N
604	chr6_ssto_hap7	2580632	2580633	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-A	0.348	1E-8	(EA)	0.017	[0.011-0.023] unit decrease	Illumina [NR] (imputed)	N
604	chr6_ssto_hap7	2580632	2580633	rs2853946	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	White blood cell count	16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals	NA	6p21.33	HLA-B	rs2853946-?	NR	3E-14		0.0139	[0.010-0.017] unit decrease	Illumina [NR] (imputed)	N
604	chr6_ssto_hap7	2586113	2586114	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	6E-21	(CD8)	0.31	[0.25-0.37] SD decrease	Illumina [529721]	N
604	chr6_ssto_hap7	2586113	2586114	rs2524054	20045101	Ferreira MA	2009-12-31	Am J Hum Genet	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	CD4:CD8 lymphocyte ratio	2,538 European ancestry twins from 1,089 families	988 individuals from 550 families	6p21.33	HLA-B	rs2524054-A	0.32	2E-28	(CD4:CD8)	0.37	[0.31-0.43] SD increase	Illumina [529721]	N
604	chr6_ssto_hap7	2586642	2586643	rs12191877	20953188	Ellinghaus E	2010-10-17	Nat Genet	Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.	Psoriasis	472 European ancestry cases, 1,146 European ancestry controls	2,668, European ancestry cases, 762 French Canadian founder population cases, 2,585 cases, 3,485 European ancestry controls, 994 French Canadian founder population controls, 2,412 controls	6p21.33	HLA-C	rs12191877-?	NR	4E-32		2.79	[2.35-3.33]	Illumina [2339118] (imputed)	N
604	chr6_ssto_hap7	2586642	2586643	rs12191877	19169254	Nair RP	2009-01-25	Nat Genet	Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.	Psoriasis	1,359 European ancestry cases, 1,400 European ancestry controls	5,048 European ancestry cases, 5,041 European ancestry controls	6p21.33	HLA-C	rs12191877-T	0.15	1E-100		2.64	[NR]	Perlegen [~ 2500000] (imputed)	N
604	chr6_ssto_hap7	2592545	2592546	rs9468925	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA	rs9468925-?	0.617	2E-33		1.35	[1.28-1.41]	Illumina [493909]	N
604	chr6_ssto_hap7	2597450	2597451	rs2894207	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.33	HLA-C, HLA-B	rs2894207-?	0.82	3E-33		1.64	[1.52-1.75]	Illumina [464328]	N
604	chr6_ssto_hap7	2599183	2599184	rs2247056	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	HLA-C, HLA-B	rs2247056-T	0.27	4E-12		1.18	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
604	chr6_ssto_hap7	2599183	2599184	rs2247056	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Triglycerides	96,598 European ancestry individuals	NA	6p21.33	HLA	rs2247056-T	0.25	2E-15		2.99	[2.17-3.81] mg/dL decrease	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
604	chr6_ssto_hap7	2605472	2605473	rs9461688	18464913	Melzer D	2008-05-09	PLoS Genet	A genome-wide association study identifies protein quantitative trait loci (pQTLs).	Protein quantitative trait loci	1,200 European ancestry individuals	up to 4,590 European ancestry individuals	6p21.33	HLA-C	rs9461688-?	0.31	4E-6	(IL18)			Illumina [496032]	N
604	chr6_ssto_hap7	2606019	2606020	rs6457374	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	HLA-C	rs6457374-T	0.73	8E-35		0.041	[0.035-0.047] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
604	chr6_ssto_hap7	2606079	2606080	rs9368677	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.33	HLA-C	rs9368677-G	0.798	1E-17		1.36	[1.27-1.46]	Illumina [606164]	N
604	chr6_ssto_hap7	2608131	2608132	rs9264942	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Crohn's disease	5,956 European ancestry cases, 14,927 European ancestry controls	14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.33	NR	rs9264942-?	NR	5E-25	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
604	chr6_ssto_hap7	2608131	2608132	rs9264942	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Crohn's disease	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.33	PSORS1C1, NFKBIL1, HLA-C, MICB	rs9264942-C	0.378	5E-28		1.145	[1.107-1.184]	Affymetrix, Illumina [1230000] (imputed)	N
604	chr6_ssto_hap7	2608131	2608132	rs9264942	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-C	rs9264942-C	0.34	3E-35	(EA)	2.9	[NR]	Illumina [1384048] (imputed)	N
604	chr6_ssto_hap7	2608131	2608132	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-C	0.412	6E-32	(setpoint)	5.3	[NR] % increase	Illumina [NR]	N
604	chr6_ssto_hap7	2608131	2608132	rs9264942	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HLA-C	rs9264942-?	NR	6E-12	(progression)			Illumina [NR]	N
604	chr6_ssto_hap7	2608306	2608307	rs10484554	20953190	Strange A	2010-10-17	Nat Genet	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	Psoriasis	2,178 European ancestry cases, 5,175 European ancestry controls	3,174 European ancestry cases, 5,464 European ancestry controls	6p21.33	HLA-C	rs10484554-?	NR	4E-214		4.66	[4.23-5.13]	Illumina [535475]	N
604	chr6_ssto_hap7	2608306	2608307	rs10484554	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	HLA-C	rs10484554-T	0.13	6E-8				Illumina [291119]	N
604	chr6_ssto_hap7	2608306	2608307	rs10484554	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs10484554-T	0.15	2E-39		2.8	[2.40-3.30]	Illumina [305983]	N
605	chr6_ssto_hap7	2646044	2646045	rs3134792	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs3134792-C	0.114	6E-72		3.93	[NR]	Illumina [242824]	N
605	chr6_ssto_hap7	2646044	2646045	rs3134792	18364390	Capon F	2008-03-25	Hum Mol Genet	Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.	Psoriasis	318 European ancestry cases, 288 European ancestry controls	2,361 European ancestry cases, 1,927 European ancestry controls	6p21.33	HLA-C	rs3134792-?	NR	1E-9				Illumina [~ 408000]	N
605	chr6_ssto_hap7	2654293	2654294	rs2442719	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.33	HLA-C, HLA-B	rs2442719-A	0.4161	8E-7	(Han)	0.3298	unit decrease	Illumina [up to 528294]	N
605	chr6_ssto_hap7	2655025	2655026	rs2596500	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs2596500-A	NR	8E-20		1.18	[NR]	Illumina [7158791] (imputed)	N
605	chr6_ssto_hap7	2656125	2656126	rs3819299	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.33	HLA-B	rs3819299-G	NR	9E-10		5.048	[3.43-6.66] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr6_ssto_hap7	2656317	2656318	rs2523608	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs2523608-A	0.59	9E-9		0.02	[0.012-0.028] unit increase	Affymetrix [2500000] (imputed)	N
605	chr6_ssto_hap7	2656317	2656318	rs2523608	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523608-G	0.326	9E-20	(AA)	2.6	[NR]	Illumina [1384048] (imputed)	N
605	chr6_ssto_hap7	2656317	2656318	rs2523608	20205591	Pelak K	2010-04-15	J Infect Dis	Host determinants of HIV-1 control in African Americans.	HIV-1 viral setpoint	515 African American cases	NA	6p21.33	HLA-B	rs2523608-?	0.37	3E-6				Illumina [1212217]	N
605	chr6_ssto_hap7	2656548	2656549	rs2523607	25261932	Cerhan JR	2014-09-28	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.	Diffuse large B cell lymphoma	3,857 European ancestry cases, 7,666 European ancestry controls	1,359 European ancestry cases, 4,557 European ancestry controls	6p21.33	HLA-B	rs2523607-A	0.120	2E-10		1.32	[1.21-1.44]	Illumina [8363971] (imputed)	N
605	chr6_ssto_hap7	2657644	2657645	rs41549217	25187353	Goldstein JI	2014-09-04	Nat Commun	Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.	Clozapine-induced agranulocytosis	161 European ancestry cases, 1,196 European ancestry clozapine-treated and untreated controls	NA	6p21.33	HLA-B, MICA, HCP5, HCG26	rs41549217-T	0.0288	2E-7		4.6582	[4.08-5.24]	Illumina [8809853] (imputed)	N
605	chr6_ssto_hap7	2660822	2660823	rs2523590	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2523590-C	0.164	2E-13	(AA)	2.4	[NR]	Illumina [1384048] (imputed)	N
605	chr6_ssto_hap7	2661459	2661460	rs9378249	21254220	Jiang Y	2011-02-01	Genet Epidemiol	Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.	Bipolar disorder	1,868 European ancestry cases, 2,938 European ancestry controls	NA	6p21.33	NR	rs9378249-?	NR	1E-8	(addtive)			Affymetrix [NR]	N
605	chr6_ssto_hap7	2665008	2665009	rs2523557	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	HLA-B, MICA	rs2523557-C	0.13	9E-35		7.33	[5.34-10.07]	Illumina [1392644]	N
605	chr6_ssto_hap7	2666491	2666492	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Systolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	7E-6		0.44	[0.24-0.64] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
605	chr6_ssto_hap7	2666491	2666492	rs9266359	25249183	Lu X	2014-09-23	Hum Mol Genet	Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.	Diastolic blood pressure	11,816 Han Chinese ancestry individuals	69,146 Han Chinese ancestry individuals	6p21.33	HLA-B	rs9266359-C	0.6	2E-7		0.29	[0.17-0.41] unit increase	Affymetrix, Illumina [2485448] (imputed)	N
605	chr6_ssto_hap7	2669091	2669092	rs17193122	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA-B*38:02	rs17193122-A	0.047	4E-27	(trend)	9.59	[5.78-15.90] (allelic)	Affymetrix [522980]	N
605	chr6_ssto_hap7	2669656	2669657	rs2922994	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.33	HLA-B, TCF19	rs2922994-G	0.113	2E-9		1.64	[1.39-1.92]	Illumina [611856]	N
605	chr6_ssto_hap7	2669855	2669856	rs7743761	20062062	Reveille JD	2010-01-10	Nat Genet	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	Ankylosing spondylitis	2,053 European ancestry cases, 5,140 European ancestry controls	898 European ancestry cases, 1,518 European ancestry controls	6p21.33	MHC	rs7743761-?	NR	5E-304				Illumina [288662]	N
605	chr6_ssto_hap7	2670173	2670174	rs9266406	23001997	Hou S	2012-12-06	Arthritis Rheum	Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study.	Behcet's disease	147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls	554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls	6p21.33	MICA, DHFRP2, MICB	rs9266406-?	.40	2E-10		2.29	[1.77-2.95]	Affymetrix [661736]	N
605	chr6_ssto_hap7	2680565	2680566	rs9266629	23144326	Kim DK	2012-11-09	Am J Respir Crit Care Med	Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.	Chronic obstructive pulmonary disease-related biomarkers	Up to 1,951 European ancestry smokers	NA	6p21.33	FGFR3P	rs9266629-C	0.21	4E-10	(SP-D)			Illumina [588352]	N
605	chr6_ssto_hap7	2681219	2681220	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	7E-9		1.09	[1.06-1.13]	Affymetrix, Illumina [2579389] (imputed)	N
605	chr6_ssto_hap7	2681219	2681220	rs2244020	25102180	Ng MC	2014-08-07	PLoS Genet	Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.	Type 2 diabetes	8,284 African American cases, 15,543 African American controls	6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls	6p21.33	HLA-B	rs2244020-G	0.69	1E-6	(AA)	1.11	[1.07-1.16]	Affymetrix, Illumina [2579389] (imputed)	N
605	chr6_ssto_hap7	2684488	2684489	rs1521	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.33	HLA-B	rs1521-T	0.79	2E-65		1.92	[1.78-2.08]	Illumina [486049]	N
605	chr6_ssto_hap7	2685897	2685898	rs9266772	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.33	MICA, HLA-C	rs9266772-C	0.1882	3E-12		0.104	[0.075-0.133] unit increase	Illumina [2400000] (imputed)	N
605	chr6_ssto_hap7	2687113	2687114	rs2596565	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.33	MICA, HLA-B	rs2596565-?		9E-9		1.4	[NR]	Illumina [452367]	N
605	chr6_ssto_hap7	2687966	2687967	rs6932730	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.33	MICA, HLA-C, HLA-B, MICB	rs6932730-T	0.82	4E-8		1.14	[1.09-1.20]	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr6_ssto_hap7	2688344	2688345	rs13437082	19343178	Soranzo N	2009-04-03	PLoS Genet	Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.	Height	12,611 European ancestry individuals	7,187 European ancestry individuals	6p21.33	HLA-B	rs13437082-?	0.13	5E-8		0.07	[0.04-0.10] s.d. decrease	Illumina [229216]	N
605	chr6_ssto_hap7	2694043	2694044	rs7751505	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.33	MICA, VARS2	rs7751505-C	0.28	4E-6	(Pubertal growth)	0.07	[0.041-0.099] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
605	chr6_ssto_hap7	2696100	2696101	rs16899524	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	HLA-B	rs16899524-C	0.93	1E-8		0.04	[0.026-0.054] unit increase	Affymetrix [2500000] (imputed)	N
605	chr6_ssto_hap7	2698507	2698508	rs2251396	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	PSORS1C1, MICA, HCP5	rs2251396-T	NR	1E-22		2.2132		Illumina [514008]	N
605	chr6_ssto_hap7	2699587	2699588	rs4349859	21743469	Evans DM	2011-07-10	Nat Genet	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	Ankylosing spondylitis	3,023 European ancestry cases, 8,779 European ancestry controls	2,111 European ancestry cases, 4,483 European ancestry controls	6p21.33	HLA-B	rs4349859-A	0.04	1E-200	(less than)			Illumina [2223620] (imputed)	N
605	chr6_ssto_hap7	2700395	2700396	rs2596542	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.33	MICA	rs2596542-A	0.33	4E-13		1.39	[1.27-1.52]	Illumina [432703]	N
605	chr6_ssto_hap7	2708058	2708059	rs2857281	26190474	Dai Y	2015-07-20	Sci Rep	Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.	Trichloroethylene-induced hypersensitivity syndrome	98 Han Chinese ancestry cases, 98 Han Chinese ancestry trichloroethylene-tolerant controls	Up to 74 Han Chinese ancestry cases, up to 1,661 Han Chinese ancestry trichloroethylene-tolerant controls	6p21.33	MICA	rs2857281-C	0.081	1E-37		11.92	[8.16-17.42]	Illumina [1392644]	N
605	chr6_ssto_hap7	2711384	2711385	rs12175489	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral adipose tissue adjusted for BMI	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.33	HCP5, HLA-B	rs12175489-A	0.15	2E-6	(men)			Affymetrix, Illumina [2500000] (imputed)	N
605	chr6_ssto_hap7	2714326	2714327	rs2256183	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.33	MICA	rs2256183-A	0.45	8E-29		0.04	[NR] unit increase	Affymetrix, Illumina [2834208] (imputed)	N
605	chr6_ssto_hap7	2724207	2724208	rs2516448	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.33	MICA	rs2516448-?	NR	4E-18		1.42	[1.31-1.54]	Illumina [632668]	N
605	chr6_ssto_hap7	2725198	2725199	rs4418214	23935489	McLaren PJ	2013-07-25	PLoS Pathog	Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls.	HIV-1 susceptibility	6,334 European ancestry cases, 7,247 European ancestry controls	NA	6p21.33	HLA-C, HLA-B	rs4418214-C	NR	4E-11		1.52		Affymetrix, Illumina [~ 8000000] (imputed)	N
605	chr6_ssto_hap7	2725198	2725199	rs4418214	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	MICA	rs4418214-C	0.075	1E-34	(EA)	4.4	[NR]	Illumina [1384048] (imputed)	N
605	chr6_ssto_hap7	2739356	2739357	rs2596466	23417110	Tin A	2013-02-16	Hum Genet	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Beta-2 microglubulin plasma levels	6,728 European ancestry individuals		6p21.33	MICA	rs2596466-C	0.07	2E-12		0.05	[0.034-0.066] unit decrease	Affymetrix [2500000] (imputed)	N
605	chr6_ssto_hap7	2741567	2741568	rs9469003	21801394	Genin E	2011-07-29	Orphanet J Rare Dis	Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.	Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	424 European ancestry cases, 1,881 European ancestry controls	NA	6p21.33	HCP5	rs9469003-C	0.15	2E-9		1.73	[1.44-2.08]	Illumina [268914]	N
605	chr6_ssto_hap7	2742004	2742005	rs2524276	22864933	O'Donnell PH	2012-01-03	Cancer	Identification of novel germline polymorphisms governing capecitabine sensitivity.	Capecitabine sensitivity	Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines	NA	6p21.33	intergenic	rs2524276-?	NR	6E-6				NR [~ 2000000]	N
606	chr6_ssto_hap7	2755343	2755344	rs9267119	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs9267119-C	NR	1E-6		1.098901	[NR]	Illumina [7158791] (imputed)	N
606	chr6_ssto_hap7	2760696	2760697	rs3094228	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6p21.33	NR	rs3094228-C		4E-7		1.23	[1.13-1.33]	Affymetrix, Illumina [up to 3437411] (imputed)	N
606	chr6_ssto_hap7	2762460	2762461	rs2255221	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	intergenic	rs2255221-T	0.137	4E-14	(AA)	2.7	[NR]	Illumina [1384048] (imputed)	N
606	chr6_ssto_hap7	2762549	2762550	rs2395029	21051598	Pereyra F	2010-11-04	Science	The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	HIV-1 control	516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls	NA	6p21.33	HLA-B	rs2395029-G	0.032	1E-25	(EA)	5.3	[NR]	Illumina [1384048] (imputed)	N
606	chr6_ssto_hap7	2762549	2762550	rs2395029	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HCP5, HLA-B	rs2395029-G	0.048	5E-35	(setpoint)	5.8	[NR] % increase	Illumina [NR]	N
606	chr6_ssto_hap7	2762549	2762550	rs2395029	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	HCP5, HLA-B	rs2395029-?	NR	1E-11	(progression)			Illumina [NR]	N
606	chr6_ssto_hap7	2762549	2762550	rs2395029	19483685	Daly AK	2009-05-31	Nat Genet	HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.	Drug-induced liver injury (flucloxacillin)	58 European ancestry cases, 282 European ancestry controls	NA	6p21.33	HCP5, HLA-B	rs2395029-?	0.05	9E-33		45.0	[19.4-105]	Illumina [866399]	N
606	chr6_ssto_hap7	2762549	2762550	rs2395029	19115949	Limou S	2009-01-01	J Infect Dis	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	AIDS progression	275 European ancestry seropositive non-progressors, 86 European ancestry seropositive rapid progressors, 1,352 European ancestry seronegative controls	(see Fellay 2007)	6p21.33	MCCD1, BAT1, TNF, LTB, HCP5, MICB	rs2395029-G	0.03	3E-19		3.47	[2.39-5.04]	Illumina [291119]	N
606	chr6_ssto_hap7	2762549	2762550	rs2395029	18369459	Liu Y	2008-04-04	PLoS Genet	A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.	Psoriasis	218 European ancestry cases, 519 European ancestry controls	1,153 European ancestry cases, 1,217 European ancestry controls	6p21.33	HLA-C	rs2395029-C	0.03	2E-26		4.1	[3.10-5.30]	Illumina [305983]	N
606	chr6_ssto_hap7	2764880	2764881	rs3094604	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	intergenic	rs3094604-A	0.833	1E-7		1.39	[1.23-1.57]	Illumina [8129524] (imputed)	N
606	chr6_ssto_hap7	2769155	2769156	rs2596449	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.33	HLA	rs2596449-A	0.047	2E-13	(trend)	6.35	[3.68-10.96] (allelic)	Affymetrix [522980]	N
606	chr6_ssto_hap7	2770847	2770848	rs1055569	25897833	Thompson AG	2015-04-21	Transl Psychiatry	Genome-wide association study of behavioural and psychiatric features in human prion disease.	Psychotic symptoms and prion disease	Up to 170 cases, 5,200 controls	NA	6p21.33	HCG26	rs1055569-?	0.291	3E-6		2.36	[1.66-3.35]	Illumina [518938]	N
606	chr6_ssto_hap7	2771434	2771435	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (sCR)	42,257 East Asian, South Asian, and South East Asian ancestry individuals	19,662 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	3E-9		0.0069	[0.0046-0.0092] mg/dl increase	Affymetrix, Illumina [2353587] (imputed)	N
606	chr6_ssto_hap7	2771434	2771435	rs3828890	22797727	Okada Y	2012-07-15	Nat Genet	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Renal function-related traits (eGRFcrea)	42,451 East Asian, South Asian, and South East Asian ancestry individuals	19,636 East Asian ancestry individuals	6p21.33	MHC	rs3828890-G	0.11	1E-9		0.0079	[0.0054-0.0105] ml/min/1.73m2 decrease	Affymetrix, Illumina [2353587] (imputed)	N
606	chr6_ssto_hap7	2777567	2777568	rs2248462	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.33	MICB	rs2248462-?	NR	7E-16	(Total cHL)	1.64	[1.45-1.85]	Illumina [502514]	N
606	chr6_ssto_hap7	2779633	2779634	rs3749946	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	3.8-1, HCG26	rs3749946-A	0.07	2E-15		1.97	[1.66-2.33]	Illumina [480391]	N
606	chr6_ssto_hap7	2779747	2779748	rs3099844	22399527	Kristiansson K	2012-03-07	Circ Cardiovasc Genet	Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.	Metabolic syndrome	2,637 European ancestry cases, 7,927 European ancestry controls	NA	6p21.33	HCG26, MICB	rs3099844-A	0.08	2E-8	(HDL)	0.15	[NR] mmol/l decrease	Illumina [1257079] (imputed)	N
606	chr6_ssto_hap7	2779747	2779748	rs3099844	20662065	Clancy RM	2010-07-26	Arthritis Rheum	Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.	Neonatal lupus	116 European ancestry cases, 3,351 European ancestry controls	NA	6p21.33	NFKBIL1, LTA, AIF1, TNF, LTB	rs3099844-?	0.11	5E-10		3.34	[2.29-4.89]	Illumina [346110]	N
606	chr6_ssto_hap7	2803522	2803523	rs2855812	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	MICB	rs2855812-T	NR	2E-7	(FEV1)	0.03	[0.018-0.042] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_ssto_hap7	2806288	2806289	rs3132468	22001756	Khor CC	2011-10-16	Nat Genet	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	Dengue shock syndrome	2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls	1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls	6p21.33	MICB	rs3132468-?	0.13	4E-11		1.34	[1.23-1.46]	Illumina [481342]	N
606	chr6_ssto_hap7	2812106	2812107	rs2516399	21738478	Okada Y	2011-06-30	PLoS Genet	Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.	White blood cell types	8,794 Japanese ancestry individuals	5,998 Japanese ancestry individuals	6p21.33	MHC	rs2516399-A	0.81	2E-12	(eosinophil count)	0.105	[0.08-0.14] unit increase	Illumina [2178645] (imputed)	N
606	chr6_ssto_hap7	2830407	2830408	rs3853601	22197932	Paternoster L	2011-12-25	Nat Genet	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Atopic dermatitis	5,606 European ancestry cases, 20,565 European ancestry controls	5,419 European ancestry cases, 19,833 European ancestry controls	6p21.33	BAT1	rs3853601-G	0.12	2E-6		1.13	[1.08-1.19]	Affymetrix, Illumina [~ 2500000] (imputed)	N
606	chr6_ssto_hap7	2836284	2836285	rs2734583	21912425	Tohkin M	2011-09-13	Pharmacogenomics J	A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.	Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)	14 Japanese ancestry cases, 991 Japanese ancestry controls	NA	6p21.33	PSORS1C1, PSORS1C3, BAT1, HLA-C, MICC, PPIAP9, POLR2LP, CCHCR1, TCF19, HLA-B*5801, HCP5, POU5F1	rs2734583-?	0.0055	2E-8		66.8	[19.8-225.0]	Illumina [890321]	N
606	chr6_ssto_hap7	2873108	2873109	rs1799964	21102463	Franke A	2010-11-21	Nat Genet	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	Crohn's disease	6,333 European ancestry cases, 15,056 European ancestry controls	15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios	6p21.33	HLA-DQA2, LTA, TNF, LST1, LTB	rs1799964-C	0.209	4E-11		1.19	[1.13-1.25]	Affymetrix, Illumina [953241] (imputed)	N
607	chr6_ssto_hap7	2888592	2888593	rs11575839	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	HLA-C	rs11575839-A	0.05	1E-54	(Serum level of C4)	0.23	[0.21-0.25] g/L decrease	Illumina [1940245] (imputed)	N
607	chr6_ssto_hap7	2899265	2899266	rs2857595	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	NFKBIL1, LTA, NCR3	rs2857595-T	NR	2E-23		2.3765		Illumina [514008]	N
607	chr6_ssto_hap7	2899265	2899266	rs2857595	25194280	Wei Q	2014-09-07	Nat Genet	Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.	Laryngeal squamous cell carcinoma	993 Chinese ancestry cases, 1,995 Chinese ancestry controls	2,398 Chinese ancestry cases, 2,804 Chinese ancestry controls	6p21.33	AIF1, HLA	rs2857595-?	0.50	2E-15		1.3	[1.22-1.39]	Affymetrix [662108]	N
607	chr6_ssto_hap7	2899265	2899266	rs2857595	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.33	NCR3	rs2857595-?	NR	8E-8	(FEV1/FVC, Ever-smoking)			NR [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2899265	2899266	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	2E-10	(FEV1/FVC)	0.037	[0.025-0.049] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2899265	2899266	rs2857595	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.33	NCR3	rs2857595-G	0.81	1E-6	(FEV1)	0.025	[0.02-0.04] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2903751	2903752	rs2844479	23563607	Berndt SI	2013-04-07	Nat Genet	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	Height	8,097 European ancestry tall individuals, 8,099 European ancestry short individuals	4,872 European ancestry tall individuals, 4,831 European ancestry short individuals	6p21.33	AIF1	rs2844479-A	0.66	3E-10		1.14	[NR]	Affymetrix, Illumina [~ 2800000] (imputed)	N
607	chr6_ssto_hap7	2903751	2903752	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393698650943396	4E-6	(IGP60)	0.151	[0.087-0.215] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2903751	2903752	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393631380483438	4E-6	(IGP6)	0.1506	[0.086-0.215] unit decrease	Illumina [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2903751	2903752	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393516127507802	9E-6	(IGP61)	0.1445	[0.081-0.208] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2903751	2903752	rs2844479	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs2844479-C	0.393054780607685	7E-6	(IGP58)	0.1476	[0.083-0.212] unit increase	Illumina [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2903751	2903752	rs2844479	19079260	Thorleifsson G	2008-12-14	Nat Genet	Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.	Weight	72,598 European ancestry individuals, 1,160 African American individuals	Up to 11,036 European ancestry individuals, 32,615 individuals	6p21.33	AIF1, NCR3	rs2844479-T	0.68	2E-8		3.58	[2.33-4.83] percentage SD increase	Illumina [305846]	N
607	chr6_ssto_hap7	2906085	2906086	rs9348876	22936669	Julia A	2012-08-30	Gut	A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.	Crohn's disease	1,277 European ancestry cases, 1,488 European ancestry controls	1,365 European ancestry cases, 1,396 European ancestry controls	6p21.33	AIF1	rs9348876-T	0.06	3E-6		1.41	[1.22-1.63]	Illumina [508934]	N
607	chr6_ssto_hap7	2919186	2919187	rs2857693	25282103	Wood AR	2014-10-05	Nat Genet	Defining the role of common variation in the genomic and biological architecture of adult human height.	Height	253,288 European ancestry individuals	80,067 European ancestry individuals	6p21.33	BAT2	rs2857693-T	0.38	3E-29		0.034	[0.028-0.04] unit decrease	Affymetrix, Illumina, Perlegen [2550858] (imputed)	N
607	chr6_ssto_hap7	2921697	2921698	rs2736172	24132900	Kanazawa T	2013-10-01	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of atypical psychosis.	Psychosis (atypical)	47 Japanese ancestry cases, 882 Japanese ancestry controls	NA	6p21.33	TNF, MICB	rs2736172-?		4E-6				Affymetrix [545513]	N
607	chr6_ssto_hap7	2926682	2926683	rs1046080	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite ratios	Up to 5,591 European ancestry individuals	Up to 1,767 European ancestry individuals	6p21.33	PRRC2A	rs1046080-A	0.74	1E-14	(X-11444/X-11470)	0.027	[0.019-0.035] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
607	chr6_ssto_hap7	2932644	2932645	rs3115663	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT2	rs3115663-G	0.1812	7E-57		3.04	[NR]	Illumina [242824]	N
607	chr6_ssto_hap7	2933768	2933769	rs1046089	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.33	PRRC2A, BAG6	rs1046089-G	0.34	4E-6	(EA)	1.3	[NR]	NR [1085772] (imputed)	N
607	chr6_ssto_hap7	2933768	2933769	rs1046089	23307926	Perry JR	2013-01-09	Hum Mol Genet	A genome-wide association study of early menopause and the combined impact of identified variants.	Menopause (age at onset)	3,493 European ancestry cases, 13,598 European ancestry controls	3,412 European ancestry cases, 4,928 European ancestry controls	6p21.33	NR	rs1046089-A	0.3492	4E-11		0.1919	[0.13-0.25] years increase	NR [NR]	N
607	chr6_ssto_hap7	2933768	2933769	rs1046089	22267201	Stolk L	2012-01-22	Nat Genet	Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.	Menopause (age at onset)	38,968 European ancestry female individuals	Up to 14,435 European ancestry female individuals	6p21.33	PRRC2A	rs1046089-A	0.353	2E-16		0.213	[0.16-0.26] years decrease	Affymetrix, Illumina [2551160] (imputed)	N
607	chr6_ssto_hap7	2947170	2947171	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Systolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	2E-11		0.376	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2947170	2947171	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Hypertension	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	1E-10		0.054	[NR] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2947170	2947171	rs805303	21909115	Ehret GB	2011-09-11	Nature	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Diastolic blood pressure	69,395 European ancestry individuals	Up to 133,361 European ancestry individuals	6p21.33	BAT2, BAT5	rs805303-G	0.61	3E-11		0.228	[NR] mmHg increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
607	chr6_ssto_hap7	2951317	2951318	rs3117582	19836008	Landi MT	2009-10-15	Am J Hum Genet	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Lung adenocarcinoma	5,739 European ancestry cases, 5,848 European ancestry controls	7,561 European ancestry cases, 13,818 European ancestry controls	6p21.33	APOM, BAT3	rs3117582-C	0.10	5E-12		1.22	[1.15-1.29]	Illumina [515922]	N
607	chr6_ssto_hap7	2951317	2951318	rs3117582	19654303	Broderick P	2009-08-04	Cancer Res	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Lung cancer	1,952 European ancestry cases, 1,438 European ancestry controls	2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals	6p21.33	BAT3	rs3117582-?	NR	4E-10		1.24	[1.16-1.33]	Illumina [511919]	N
607	chr6_ssto_hap7	2951317	2951318	rs3117582	18978787	Wang Y	2008-11-02	Nat Genet	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.	Lung cancer	5,095 European ancestry cases, 5,200 European ancestry cases	2,448 European ancestry cases, 2,983 European ancestry controls	6p21.33	BAT3, MSH5	rs3117582-C	NR	5E-10		1.24	[1.16-1.33]	Illumina [223891]	N
607	chr6_ssto_hap7	2953403	2953404	rs805297	21844665	Hu HJ	2011-08-16	Exp Mol Med	Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis.	Rheumatoid arthritis	100 Korean ancestry cases, 600 Korean ancestry controls	578 Korean ancestry cases, 711 Korean ancestry controls	6p21.33	APOM	rs805297-A	0.36	3E-10		1.56	[1.36-1.80]	Affymetrix [300909]	N
607	chr6_ssto_hap7	2962938	2962939	rs3130618	25344690	Feenstra B	2014-10-26	Nat Genet	Common variants associated with general and MMR vaccine-related febrile seizures.	Febrile seizures (MMR vaccine-related)	929 European ancestry cases, 4,118 European ancestry controls	Up to 408 European ancestry cases, Up to 1,645 European ancestry controls	6p21.33	GPANK1	rs3130618-C	0.79	2E-7		1.34	[1.20-1.49]	Illumina [8129524] (imputed)	N
607	chr6_ssto_hap7	2962938	2962939	rs3130618	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	BAT4	rs3130618-A	0.1811	2E-56		3.03	[NR]	Illumina [242824]	N
607	chr6_ssto_hap7	2967546	2967547	rs9267531	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.33	CSNK2B	rs9267531-?	NR	8E-8				Affymetrix [up to 700598]	N
607	chr6_ssto_hap7	2967546	2967547	rs9267531	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.33	CSNK2B, MSH5, MICA, MICB	rs9267531-G	0.1	3E-14		2.62	[1.93-3.54]	Affymetrix [906600]	N
609	chr6_ssto_hap7	3159452	3159453	rs67682613	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.33	NR	rs67682613-G	NR	7E-19		1.1494253	[NR]	Illumina [7158791] (imputed)	N
609	chr6_ssto_hap7	3169809	3169810	rs11966200	20526339	Quan C	2010-06-06	Nat Genet	Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.	Vitiligo	1,117 Han Chinese ancestry cases, 1,429 Han Chinese ancestry controls	6,623 East Asian ancestry cases, 10,740 East Asian ancestry controls	6p21.33	HLA-C, HLA-B	rs11966200-A	0.06	1E-48		1.9	[1.74-2.07]	Illumina [493909]	N
609	chr6_ssto_hap7	3171454	3171455	rs494620	19448619	Stolk L	2009-05-15	Nat Genet	Loci at chromosomes 13, 19 and 20 influence age at natural menopause.	Menopause (age at onset)	2,979 European ancestry female individuals	2,560 European ancestry female individuals	6p21.33	NR	rs494620-?	NR	5E-7		0.3	[0.18-0.42] years increase	Illumina [315418]	N
609	chr6_ssto_hap7	3175340	3175341	rs12661281	25629512	Cheng CY	2015-01-28	Nat Commun	New loci and coding variants confer risk for age-related macular degeneration in East Asians.	Exudative age-related macular degeneration	2,119 East Asian ancestry cases, 5,691 East Asian ancestry controls	4,226 East Asian ancestry cases, 10,289 East Asian ancestry controls	6p21.33	SLC44A4	rs12661281-?	NR	1E-11		1.27	[NR]	Illumina [4471719] (imputed)	N
609	chr6_ssto_hap7	3176666	3176667	rs2736428	20421499	Levy D	2010-04-26	Proc Natl Acad Sci U S A	Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.	Telomere length	3,417 European ancestry individuals	1,893 African American and European ancestry individuals, 2,876 European ancestry individuals	6p21.33	SLC44A4	rs2736428-T	NR	3E-6		0.05	[0.03-0.07] kb increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
609	chr6_ssto_hap7	3183976	3183977	rs652888	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	EHMT2	rs652888-G	0.24	1E-6		1.14	[1.08-1.19]	Illumina [3680900] (imputed)	N
609	chr6_ssto_hap7	3183976	3183977	rs652888	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.33	EHMT2	rs652888-?	NR	7E-13		1.38	[1.22-1.57]	Illumina [719265]	N
609	chr6_ssto_hap7	3183976	3183977	rs652888	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	EHMT2	rs652888-C	0.2021	3E-46		2.71	[NR]	Illumina [242824]	N
609	chr6_ssto_hap7	3216437	3216438	rs9267673	21105107	Clifford RJ	2010-12-01	Hepatology	Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.	Hepatocellular carcinoma	180 Korean ancestry cases, 271 Korean ancestry controls	206 Korean ancestry cases, 416 East Asian ancestry controls,	6p21.33	C2	rs9267673-?	0.08	2E-6		1.97	[1.47-2.64]	Affymetrix [658897]	N
609	chr6_ssto_hap7	3236513	3236514	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	C2	rs9332739-?	0.955	1E-6		2.63	[1.79-3.85]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_ssto_hap7	3236513	3236514	rs9332739	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	C2	rs9332739-?	0.955	2E-8		2.08	[1.61-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_ssto_hap7	3236513	3236514	rs9332739	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	C2	rs9332739-?	0.96	2E-23		2.17	[NR]	Affymetrix [6036699] (imputed)	N
609	chr6_ssto_hap7	3238718	3238719	rs9380272	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs9380272-A	0.012	2E-8		4.31	[2.76-6.87]	Illumina [~ 2500000] (imputed)	N
609	chr6_ssto_hap7	3246888	3246889	rs12614	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.33	CFB	rs12614-T	0.92	1E-34		1.89	[1.69-2.08]	Illumina [3680900] (imputed)	N
609	chr6_ssto_hap7	3246889	3246890	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (GA)	819 European ancestry geographic atrophy cases, 4,134 European ancestry controls	NA	6p21.33	CFB	rs641153-?	0.899	2E-9		2.13	[1.69-2.7]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_ssto_hap7	3246889	3246890	rs641153	22705344	Sobrin L	2012-06-15	Ophthalmology	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Age-related macular degeneration (CNV)	1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls	4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls	6p21.33	CFB	rs641153-?	0.899	1E-17		2.22	[1.85-2.63]	Affymetrix, Illumina [6036699] (imputed)	N
609	chr6_ssto_hap7	3246889	3246890	rs641153	21665990	Yu Y	2011-06-10	Hum Mol Genet	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Age-related macular degeneration	2,594 European ancestry cases, 4,134 European ancestry controls	5,640 European ancestry cases, 52,174 European ancestry controls	6p21.33	CFB	rs641153-?	0.90	6E-31		1.85	[NR]	Affymetrix [6036699] (imputed)	N
609	chr6_ssto_hap7	3246889	3246890	rs641153	20385826	Neale BM	2010-04-12	Proc Natl Acad Sci U S A	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Age-related macular degeneration	979 cases, 1,709 controls	868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls	6p21.33	CFB, C2	rs641153-?	NR	2E-20				Affymetrix [632932]	N
609	chr6_ssto_hap7	3249660	3249661	rs541862	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.33	CFB	rs541862-T	0.99	9E-17		1.89	[1.61-2.17]	Illumina [2272849] (imputed)	N
609	chr6_ssto_hap7	3250249	3250250	rs4151657	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.33	CFB, BAT2, MSH5, HSPA1L, SLC44A4	rs4151657-G	0.29	5E-14		1.54	[1.38-1.73]	Illumina [480391]	N
609	chr6_ssto_hap7	3251569	3251570	rs1270942	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.33	BAT2, HSPA1L, CFB, TNXB, NOTCH4	rs1270942-C	NR	5E-25		3.0494		Illumina [514008]	N
609	chr6_ssto_hap7	3252626	3252627	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration (extreme sampling)	720 European ancestry grade 5 cases, 513 European ancestry grade 1 controls	70 European ancestry grade 5 cases, 73 European ancestry grade 1 controls	6p21.33	RDBP, CFB, DKFZp779M0311	rs522162-?	0.93	3E-7		2.38	[1.69-3.33]	Affymetrix [2543887] (imputed)	N
609	chr6_ssto_hap7	3252626	3252627	rs522162	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	RDBP, CFB, ATF6B, STK19	rs522162-?	0.93	2E-10		2.33	[1.82-3.03]	Affymetrix [2543887] (imputed)	N
609	chr6_ssto_hap7	3263060	3263061	rs2734331	24816252	Shin SY	2014-05-11	Nat Genet	An atlas of genetic influences on human blood metabolites.	Blood metabolite levels	7,824 European ancestry individuals	NA	6p21.33	SKIV2L	rs2734331-A	0.97	7E-13	(X-11470)	0.073	[0.053-0.093] unit increase	Affymetrix, Illumina [2100000] (imputed)	N
609	chr6_ssto_hap7	3263150	3263151	rs592229	25281659	van der Valk RJ	2014-10-03	Hum Mol Genet	A novel common variant in DCST2 is associated with length in early life and height in adulthood.	Infant length	28,238 European ancestry individuals	NA	6p21.33	HLA	rs592229-G	0.43	2E-8		0.048	[0.030-0.066] unit increase	Affymetrix, Illumina [2193675] (imputed)	N
609	chr6_ssto_hap7	3263150	3263151	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370399655280899	4E-6	(IGP42)	0.1536	[0.088-0.219] unit increase	Illumina [~ 2500000] (imputed)	N
609	chr6_ssto_hap7	3263150	3263151	rs592229	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.33	NR	rs592229-G	0.370283129554656	9E-6	(IGP2)	0.1479	[0.083-0.213] unit increase	Illumina [~ 2500000] (imputed)	N
609	chr6_ssto_hap7	3263171	3263172	rs429608	23455636	Fritsche LG	2013-03-03	Nat Genet	Seven new loci associated with age-related macular degeneration.	Age-related macular degeneration	6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls	9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls	6p21.33	CFB, C2	rs429608-G	0.86	4E-89		1.74	[1.68-1.79]	Affymetrix, Illumina [2442884] (imputed)	N
609	chr6_ssto_hap7	3263171	3263172	rs429608	20861866	Kopplin LJ	2010-09-23	Genes Immun	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Age-related macular degeneration	684 European ancestry cases, 188 European ancestry controls	1,896 European ancestry cases, 1,866 European ancestry controls	6p21.33	BF, SKIV2L	rs429608-?	NR	5E-15		1.85	[NR]	Affymetrix [> 361556] (imputed)	N
609	chr6_ssto_hap7	3263171	3263172	rs429608	20385819	Chen W	2010-04-12	Proc Natl Acad Sci U S A	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	Age-related macular degeneration	2,157 European ancestry cases, 1,150 European ancestry controls	7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls	6p21.33	CFB, C2	rs429608-G	0.842	3E-21		2.16	[1.84-2.53]	Illumina [~ 2500000] (imputed)	N
609	chr6_ssto_hap7	3265870	3265871	rs406936	23577725	Naj AC	2013-05-01	Ann Hum Genet	Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.	Age-related macular degeneration	1,207 European ancestry cases, 686 European ancestry controls	122 European ancestry cases, 86 European ancestry controls	6p21.33	SKIV2L	rs406936-?	0.10	7E-7		1.75	[1.41-2.17]	Affymetrix [2543887] (imputed)	N
609	chr6_ssto_hap7	3273606	3273607	rs389884	23263863	Li J	2012-12-20	Hum Mol Genet	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hematology traits	7,943 African American children, 6,234 European ancestry children	NA	6p21.33	CFB, STK19, ZBTB12	rs389884-C	0.0953	2E-8	(EA, WBC)	0.0254	[0.017-0.034] unit decrease	Illumina [544917]	N
609	chr6_ssto_hap7	3273606	3273607	rs389884	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.33	intergenic	rs389884-C	0.1148	8E-66		3.65	[NR]	Illumina [242824]	N
610	chr6_ssto_hap7	3339603	3339604	rs6455	26385043	Kertai MD	2015-06-17	Am Heart J	Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery.	Postoperative atrial fibrillation in coronary artery bypass grafting surgery	620 European ancestry cases, 257 European ancestry controls	220 cases, 84 controls	6p21.33	CYP21A2	rs6455-G	0.015	3E-6		1.96	[0.51-7.58]	Illumina [524975]	N
610	chr6_ssto_hap7	3352453	3352454	rs2857009	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.33	C4	rs2857009-G	0.20	1E-22	(Serum level of C4)	0.08	[0.060-0.100] g/L increase	Illumina [1940245] (imputed)	N
610	chr6_ssto_hap7	3359515	3359516	rs12198173	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.33	TNXB	rs12198173-?	NR	3E-6	(progression)			Illumina [NR]	N
611	chr6_ssto_hap7	3457703	3457704	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	4E-11		0.0266	[0.019-0.034] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_ssto_hap7	3457703	3457704	rs204999	23022100	Franceschini N	2012-09-26	Am J Hum Genet	Discovery and fine mapping of serum protein loci through transethnic meta-analysis.	Serum total protein level	Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals	NA	6p21.32	intergenic	rs204999-A	0.74	3E-9	(EA)	0.025	[0.017-0.033] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_ssto_hap7	3457703	3457704	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
611	chr6_ssto_hap7	3457703	3457704	rs204999	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
611	chr6_ssto_hap7	3457703	3457704	rs204999	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs204999-G	0.2643	9E-40		2.44	[NR]	Illumina [242824]	N
611	chr6_ssto_hap7	3462239	3462240	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196796488164359	4E-6	(IGP18)	0.1779	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_ssto_hap7	3462239	3462240	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.19676420855615	4E-6	(IGP25)	0.1773	[0.1-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_ssto_hap7	3462239	3462240	rs9296009	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	PRRT1	rs9296009-T	0.196432337204109	4E-8	(IGP23)	0.2111	[0.14-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
611	chr6_ssto_hap7	3470196	3470197	rs3096696	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	PPT2	rs3096696-A		4E-6		1.478		Affymetrix [NR]	N
611	chr6_ssto_hap7	3475203	3475204	rs3134950	24823311	Guan W	2014-05-13	Circ Cardiovasc Genet	Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	8,631 European ancestry individuals	NA	6p21.32	AGPAT1, PPT2	rs3134950-A	0.625	6E-6		0.01	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_ssto_hap7	3475203	3475204	rs3134950	23362303	Wu JH	2013-01-29	Circ Cardiovasc Genet	Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.	Oleic acid (18:1n-9) plasma levels	8,961 European ancestry individuals		6p21.32	EGFL8, AGPAT1, PPT2	rs3134950-A	NR	1E-6		0.0945	unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_ssto_hap7	3482237	3482238	rs3096697	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	EGFL8	rs3096697-T	0.2054	1E-41		2.58	[NR]	Illumina [242824]	N
611	chr6_ssto_hap7	3484274	3484275	rs1061808	22359512	Demirkan A	2012-02-16	PLoS Genet	Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.	Phospholipid levels (plasma)	4,034 European ancestry individuals	NA	6p21.32	AGPAT1	rs1061808-?	NR	8E-10	(proportions)	0.9	[NR] % increase	Illumina [NR] (imputed)	N
611	chr6_ssto_hap7	3488214	3488215	rs3130284	25987655	Fernandez CA	2015-05-18	Blood	Genome-wide analysis links NFATC2 with asparaginase hypersensitivity.	Asparaginase hypersensitivity in acute lymphoblastic leukemia	3,126 child cases	182 child cases	6p21.32	AGPAT1	rs3130284-C	NR	7E-6		1.464		Affymetrix [NR]	N
611	chr6_ssto_hap7	3494219	3494220	rs3134945	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	RNF5	rs3134945-T	0.2049	2E-40		2.54	[NR]	Illumina [242824]	N
611	chr6_ssto_hap7	3494884	3494885	rs41268928	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	RNF5, NOTCH4, AGER	rs41268928-C	0.04	3E-16	(EA)	0.69	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_ssto_hap7	3496987	3496988	rs2071288	26083729	Maruthur NM	2015-06-17	PLoS One	Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study.	Advanced glycation end-product levels	581 Black individuals, 1,737 European ancestry individuals	NA	6p21.32	AGER, RNF5, NOTCH4	rs2071288-T	0.1	2E-8	(Blacks)	0.56	unit decrease	Affymetrix [up to 9100000] (imputed)	N
611	chr6_ssto_hap7	3499170	3499171	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Percentage gas trapping	3,243 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases,  3,062 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	4E-9	(All)	0.23	[0.15-0.31] unit decrease	Illumina [6900000] (imputed)	N
611	chr6_ssto_hap7	3499170	3499171	rs2070600	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	AGER	rs2070600-T	NR	5E-9	(%LAA-950, All)	0.14	[-0.07560-0.35560] unit decrease	Illumina [7600000] (imputed)	N
611	chr6_ssto_hap7	3499170	3499171	rs2070600	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	AGER	rs2070600-?	NR	1E-21	(FEV1/FVC, Pack-years)			NR [~ 2500000] (imputed)	N
611	chr6_ssto_hap7	3499170	3499171	rs2070600	20010835	Hancock DB	2009-12-13	Nat Genet	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Pulmonary function	20,890 European ancestry individuals	16,178 European ancestry individuals	6p21.32	AGER, PPT2	rs2070600-T	0.04	3E-14	(FEV1/FVC)	1.0	[NR] % increase	Affymetrix, Illumina [2534500] (imputed)	N
611	chr6_ssto_hap7	3499170	3499171	rs2070600	20010834	Repapi E	2009-12-13	Nat Genet	Genome-wide association study identifies five loci associated with lung function.	Pulmonary function	20,288 European ancestry individuals	up to 54,276 European ancestry individuals	6p21.32	AGER	rs2070600-T	0.06	3E-15	(FEV1/FVC)	0.088	[0.066-0.110] s.d. increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
611	chr6_ssto_hap7	3503306	3503307	rs204993	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	PBX2	rs204993-A	0.58	2E-15		1.17	[1.12-1.21]	Illumina [458847]	N
611	chr6_ssto_hap7	3506044	3506045	rs176095	25574825	Baurecht H	2015-01-08	Am J Hum Genet	Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.	Atopic dermatitis	2,079 European ancestry cases, 3,867 European ancestry controls	NA	6p21.32	GPSM3	rs176095-G	NR	3E-7		1.3020833	[1.18-1.44]	Affymetrix, Illumina, Perlegen [up to 5493100] (imputed)	N
611	chr6_ssto_hap7	3506044	3506045	rs176095	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	GPSM3	rs176095-T	0.81	8E-20		1.4	[1.30-1.51]	Illumina [606164]	N
611	chr6_ssto_hap7	3511473	3511474	rs13215567	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	GPSM3, NOTCH4	rs13215567-A	0.049	1E-6	(IGFBP-3 )	0.03	[NR] ng/mL increase	Illumina [899892]	N
611	chr6_ssto_hap7	3513169	3513170	rs2071278	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRA	rs2071278-G	0.27	4E-72	(Serum level of C4)	0.13	[0.11-0.15] g/L decrease	Illumina [1940245] (imputed)	N
611	chr6_ssto_hap7	3518811	3518812	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	5E-7	(EA)	1.25	[NR]	NR [1085772] (imputed)	N
611	chr6_ssto_hap7	3518811	3518812	rs3132935	23894747	Aberg KA	2013-02-01	JAMA Psychiatry	A comprehensive family-based replication study of schizophrenia genes.	Schizophrenia	11,185 European ancestry cases, 10,768 European ancestry controls	1,262 African American ancestry individuals, 2,740 European ancestry individuals, 2,296 Asian ancestry individuals	6p21.32	NOTCH4	rs3132935-?	0.82	3E-7		1.25	[NR]	NR [1085772] (imputed)	N
611	chr6_ssto_hap7	3519419	3519420	rs2071277	22694956	Cipriani V	2012-06-13	Hum Mol Genet	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.	Age-related macular degeneration	893 European ancestry cases, 2,199 European ancestry controls	1,411 European ancestry cases, 1,431 European ancestry controls	6p21.32	NOTCH4	rs2071277-C	0.219	2E-11		1.3	[1.20-1.41]	Illumina [2272849] (imputed)	N
611	chr6_ssto_hap7	3520729	3520730	rs3131296	19571808	Stefansson H	2009-07-01	Nature	Common variants conferring risk of schizophrenia.	Schizophrenia	2,663 European ancestry cases, 13,498 European ancestry controls	10,282 European ancestry cases, 21,093 European ancestry controls	6p21.32	MHC, NOTCH4	rs3131296-G	0.87	2E-10		1.19	[NR]	Illumina [314868]	N
611	chr6_ssto_hap7	3527622	3527623	rs2071286	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	NOTCH4	rs2071286-?	0.29	2E-8		2.15	[NR]	Illumina [899641]	N
611	chr6_ssto_hap7	3532073	3532074	rs404860	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	NOTCH4	rs404860-A	0.50	4E-23		1.21	[1.16-1.25]	Illumina [458847]	N
611	chr6_ssto_hap7	3536111	3536112	rs422951	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	NOTCH4	rs422951-G	0.81	5E-16		1.27	[1.20-1.35]	Illumina [3680900] (imputed)	N
611	chr6_ssto_hap7	3537756	3537757	rs3132946	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	6p21.32	NR	rs3132946-A	0.12	8E-6		1.38	[1.21-1.57]	Illumina [439828]	N
611	chr6_ssto_hap7	3538134	3538135	rs443198	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs443198-?	0.63	9E-21	(ACA positive)	1.82	[1.59-2.04]	Illumina [NR] (imputed)	N
611	chr6_ssto_hap7	3538348	3538349	rs3134931	23620142	Reiner AP	2013-04-24	Hum Mol Genet	Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.	Circulating myeloperoxidase levels (serum)	9,305 European ancestry individuals		6p21.32	HLA, NOTCH4, C2	rs3134931-T	0.73	1E-8		0.05	[0.030-0.070] unit decrease	Affymetrix, Illumina [2397181]	N
612	chr6_ssto_hap7	3540059	3540060	rs3096702	23535732	Eeles RA	2013-04-01	Nat Genet	Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.	Prostate cancer	11,085 European ancestry cases, 11,463 European ancestry controls	19,662 European ancestry cases, 19,715 European ancestry controls	6p21.32	CYP21A2, DOM3Z, FKBPL, HLA-DRB6, HCG23, LOC10029, ATF6B, LOC100293534, AGER, LOC100507547, MIR1236, PPT2, PPT2-EGF, HLA-DRA, PPT2-EGFL8, RNF5, RNF5P1, CFB, RDBP, TNXA, TNXB, HLA-DQB1, NOTCH4, SKIV2L, STK19, GPSM3, PBX2, LOC10050, EGFL8, AGPAT1, C2, C4A, PRRT1, BTNL2, C4B, HLA-DRB5, C6orf10, HLA-DRB1, CYP21A1P, HLA-DQA1	rs3096702-A	0.4	5E-9		1.07	[1.04-1.10]	Illumina [~ 2600000] (imputed)	N
612	chr6_ssto_hap7	3552773	3552774	rs549182	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	NOTCH4	rs549182-A	0.11	8E-10		1.59	[1.37-1.85]	Illumina [480391]	N
612	chr6_ssto_hap7	3552838	3552839	rs9267911	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	PBX2, NOTCH4	rs9267911-T	0.479	3E-7		1.5	[1.29-1.76]	Illumina [4929034] (imputed)	N
612	chr6_ssto_hap7	3556052	3556053	rs424232	23936387	Ostensson M	2013-08-02	PLoS One	A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.	Celiac disease	206 European ancestry trios	NA	6p21.32	HLA	rs424232-C		5E-21				Illumina [944512] (imputed)	N
612	chr6_ssto_hap7	3558535	3558536	rs419132	25961943	Surakka I	2015-05-11	Nat Genet	The impact of low-frequency and rare variants on lipid levels.	Triglycerides	up to 62,166 European ancestry individuals	NA	6p21.32	HLA-area	rs419132-G	0.2	5E-12		0.056	[0.04-0.072] s.d. increase	Affymetrix, Illumina, Perlegen [up to 9657952] (imputed)	N
612	chr6_ssto_hap7	3564831	3564832	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-C	0.585	6E-6	(EA)	0.02	[0.012-0.028] unit increase	Illumina [NR] (imputed)	N
612	chr6_ssto_hap7	3564831	3564832	rs6936204	25096241	Keller MF	2014-08-05	Hum Mol Genet	Trans-ethnic meta-analysis of white blood cell phenotypes.	Neutrophil count	9,802 Japanese ancestry individuals, 16,550 European ancestry individuals, 7,391 African American individuals	NA	6p21.32	AK123889	rs6936204-?	NR	3E-8		0.0196	[0.013-0.026] unit decrease	Illumina [NR] (imputed)	N
612	chr6_ssto_hap7	3564971	3564972	rs9267972	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	C6orf10, NOTCh4	rs9267972-A	NR	2E-6	(Dominant)	1.85	[1.46,2.33]	Affymetrix, Illumina [1621689] (imputed)	N
612	chr6_ssto_hap7	3566582	3566583	rs3115573	20595679	Feehally J	2010-07-01	J Am Soc Nephrol	HLA has strongest association with IgA nephropathy in genome-wide analysis.	Nephropathy	187 European ancestry child cases, 244 European ancestry cases, 4,980 European ancestry controls	NA	6p21.32	intergenic	rs3115573-?	NR	1E-9		1.62	[1.39-1.90]	Illumina [286200]	N
612	chr6_ssto_hap7	3566728	3566729	rs9296015	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	NOTCH4	rs9296015-?	0.81	1E-8	(ATA positive)	1.85	[1.49-2.27]	Illumina [NR] (imputed)	N
612	chr6_ssto_hap7	3566728	3566729	rs9296015	21505073	Terao C	2011-04-19	Hum Mol Genet	The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.	Rheumatoid arthritis	1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls	4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls	6p21.32	HLA locus	rs9296015-?	NR	2E-38				Illumina [241523]	N
612	chr6_ssto_hap7	3571057	3571058	rs3130320	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	NOTCH4, C6orf10	rs3130320-T	0.39	3E-6	(case-only)	1.39	[1.21-1.60]	Illumina [421318] (imputed)	N
612	chr6_ssto_hap7	3592419	3592420	rs3130340	18445777	Styrkarsdottir U	2008-04-29	N Engl J Med	Multiple genetic loci for bone mineral density and fractures.	Bone mineral density (spine)	5,861 European ancestry individuals	7,925 European ancestry individuals	6p21.32	MHC, C6orf10	rs3130340-T	0.79	1E-7		0.1	[0.06-0.13] s.d. decrease	Illumina [301019]	N
612	chr6_ssto_hap7	3605359	3605360	rs926070	24292274	Speedy HE	2013-12-01	Nat Genet	A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	1,739 European ancestry cases, 5,199 European ancestry controls	1,144 European ancestry cases, 3,151 European ancestry controls	6p21.32	HLA	rs926070-A		4E-8	0.66	1.27	[NR]	Illumina [450000] (imputed)	N
612	chr6_ssto_hap7	3609046	3609047	rs7775397	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs7775397-G	0.1139	5E-71		3.83	[NR]	Illumina [242824]	N
612	chr6_ssto_hap7	3630638	3630639	rs6910071	20453842	Stahl EA	2010-05-09	Nat Genet	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Rheumatoid arthritis	5,539 European ancestry cases, 20,169 European ancestry controls	6,768 European ancestry cases, 8,806 European ancestry controls	6p21.32	HLA-DRB1	rs6910071-G	0.22	1E-299		2.88	[2.73-3.03]	Affymetrix, Illumina [~ 2716259] (imputed)	N
612	chr6_ssto_hap7	3653775	3653776	rs3129900	20639878	Singer JB	2010-07-18	Nat Genet	A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.	Lumiracoxib-related liver injury	31 European ancestry cases, 3 Hispanic cases, 1 case, 176 European, Hispanic and other ancestry controls	79 European ancestry cases, 16 Hispanic ancestry cases, 1 case, 405 European, Hispanic and other ancestry controls	6p21.32	HLA-DRB1	rs3129900-?	0.105	7E-25		7.5	[5.0-11.3]	Affymetrix [682386]	N
612	chr6_ssto_hap7	3656706	3656707	rs9469099	23042114	Hirota T	2012-10-07	Nat Genet	Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.	Atopic dermatitis	1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls	1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls	6p21.32	C6orf10	rs9469099-G	0.909	5E-19		1.61	[1.44-1.80]	Illumina [606164]	N
612	chr6_ssto_hap7	3663176	3663177	rs910049	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	C6orf10	rs910049-A	0.142	9E-11		1.46	[1.28-1.62]	Illumina [431618]	N
612	chr6_ssto_hap7	3667082	3667083	rs9268301	23251661	Comuzzie AG	2012-12-04	PLoS One	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.	Obesity-related traits	815 Hispanic children from 263 families	NA	6p21.32	C6orf10	rs9268301-A	0.438	2E-6	(Diet carbohydrate )	0.03	[NR] g/d increase	Illumina [899892]	N
612	chr6_ssto_hap7	3668995	3668996	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
612	chr6_ssto_hap7	3668995	3668996	rs2395148	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
612	chr6_ssto_hap7	3668995	3668996	rs2395148	18576341	Behrens EM	2008-06-24	Arthritis Rheum	Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.	Arthritis (juvenile idiopathic)	67 European ancestry cases, 1,952 European ancestry controls, 63 cases	NA	6p21.32	HLA-DRB1	rs2395148-?	NR	2E-10		5.37	[3.02-9.56]	Illumina [524684]	N
613	chr6_ssto_hap7	3672812	3672813	rs13196329	22589738	Fox CS	2012-05-10	PLoS Genet	Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.	Visceral fat	5,560 European ancestry female individuals, 4,997 European ancestry male individuals	NA	6p21.32	C6orf10	rs13196329-C	0.02	3E-6	(women)			Affymetrix, Illumina [2500000] (imputed)	N
613	chr6_ssto_hap7	3683643	3683644	rs3129934	22457343	Martinelli-Boneschi F	2012-03-28	Mult Scler	A genome-wide association study in progressive multiple sclerosis.	Multiple sclerosis	197 European ancestry cases, 234 European ancestry controls	379 European ancestry cases, 398 European ancestry controls	6p21.32	C6orf10	rs3129934-T	0.10	7E-16		2.34	[1.90-2.87]	Affymetrix [277866]	N
613	chr6_ssto_hap7	3683643	3683644	rs3129934	18941528	Comabella M	2008-10-22	PLoS One	Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.	Multiple sclerosis	242 European ancestry cases, 242 European ancestry controls	553 European ancestry cases, 1,033 European ancestry controls	6p21.32	HLA-DRB1	rs3129934-T	NR	9E-11		3.3	[2.3-4.9]	Affymetrix [428867]	N
613	chr6_ssto_hap7	3684221	3684222	rs3129939	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	c6orf10	rs3129939-G	0.1772	2E-40		2.6	[NR]	Illumina [242824]	N
613	chr6_ssto_hap7	3685088	3685089	rs2273017	21900946	Nakabayashi K	2011-09-08	J Hum Genet	Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.	Graves' disease	1,119 Japanese ancestry cases, 2,718 Japanese ancestry controls	432 Japanese ancestry cases, 1,157 Japanese ancestry controls	6p21.32	MHC	rs2273017-A	0.51	2E-22		1.53	[1.40-1.66]	Perlegen [268068]	N
613	chr6_ssto_hap7	3686165	3686166	rs3129943	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	C6orf10	rs3129943-T	0.62	3E-15		1.17	[1.12-1.21]	Illumina [458847]	N
613	chr6_ssto_hap7	3686545	3686546	rs2050190	22703881	Tang W	2012-06-14	Am J Hum Genet	Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.	Activated partial thromboplastin time	9,240 European ancestry individuals	2611 European ancestry individuals	6p21.32	C6orf10	rs2050190-A	NR	7E-7		0.2528	[0.17-0.34] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
613	chr6_ssto_hap7	3688822	3688823	rs9268402	22751097	Lu X	2012-07-01	Nat Genet	Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.	Coronary heart disease	1,515 Han Chinese ancestry cases, 5,019 Han Chinese ancestry controls	15,460 Han Chinese ancestry cases, 11,472 Han Chinese ancestry controls	6p21.32	BTNL2, C6orf10	rs9268402-G	0.59	3E-15		1.16	[1.12-1.20]	Affymetrix [~ 2200000] (imputed)	N
613	chr6_ssto_hap7	3692747	3692748	rs7758128	21326295	Jin Y	2011-02-17	J Invest Dermatol	Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.	Vitiligo	1,339 European ancestry cases	677 European ancestry cases	6p21.32	BTNL2, C6orf10	rs7758128-A	0.06	8E-11				Illumina [520460]	N
613	chr6_ssto_hap7	3705711	3705712	rs3117099	22688191	Bergen SE	2012-06-12	Mol Psychiatry	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Bipolar disorder and schizophrenia	2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls	NA	6p21.32	other genes, MHC	rs3117099-?	NR	3E-6		1.25	[NR]	Affymetrix [745006]	N
613	chr6_ssto_hap7	3705955	3705956	rs3117098	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	BTNL2	rs3117098-G	0.25	5E-12		1.16	[1.11-1.21]	Illumina [458847]	N
613	chr6_ssto_hap7	3710657	3710658	rs1980493	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	BTNL2	rs1980493-G	NR	2E-20		2.5034		Illumina [514008]	N
613	chr6_ssto_hap7	3710657	3710658	rs1980493	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	BTNL2	rs1980493-G	0.1656	1E-48		2.87	[NR]	Illumina [242824]	N
613	chr6_ssto_hap7	3710657	3710658	rs1980493	19287509	Cui J	2009-03-14	Mol Med	Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.	Anti-cyclic Citrullinated Peptide Antibody	531 European ancestry cases	849 European ancestry cases	6p21.32	HLA-DRA, BTNL2	rs1980493-?	0.13	5E-7				Affymetrix [97248]	N
613	chr6_ssto_hap7	3711258	3711259	rs2076530	22936702	Hofmann S	2012-08-30	Eur Respir J	Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.	Sarcoidosis	637 European ancestry cases, 1,233 European ancestry controls	3,121 European ancestry cases, 4,284 European ancestry controls	6p21.32	BTNL2	rs2076530-?	NR	3E-11	(Chronic)			Affymetrix [677619]	N
613	chr6_ssto_hap7	3711286	3711287	rs9268480	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	BTNL2	rs9268480-G	0.91	3E-6		1.82	[1.43-2.33]	Illumina [513923]	N
613	chr6_ssto_hap7	3711397	3711398	rs2076529	20935629	Heid IM	2010-10-10	Nat Genet	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	Waist-hip ratio	Up to 77,167 European ancestry individuals	Up to 113,636 European ancestry individuals	6p21.32	BTNL2	rs2076529-C	0.43	4E-7		0.02	[NR] unit increase	Affymetrix, Illumina, Perlegen [up to 2850269] (imputed)	N
613	chr6_ssto_hap7	3715529	3715530	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	BTNL2	rs3817963-?	NR	8E-6	(OCB positive vs. controls)	1.52	[1.27-1.79]	Illumina [495970]	N
613	chr6_ssto_hap7	3715529	3715530	rs3817963	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	BTNL2	rs3817963-?	NR	6E-10		1.61	[1.38-1.87]	Illumina [495970]	N
613	chr6_ssto_hap7	3715529	3715530	rs3817963	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-A	0.315	1E-8		1.3	[1.18-1.42]	Illumina [431618]	N
613	chr6_ssto_hap7	3715529	3715530	rs3817963	22797724	Shiraishi K	2012-07-15	Nat Genet	A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.	Lung adenocarcinoma	1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls	4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls	6p21.32	BTNL2	rs3817963-G	0.318	3E-10		1.18	[1.12-1.24]	Illumina [538166]	N
613	chr6_ssto_hap7	3718033	3718034	rs9461741	25569183	Vijai J	2015-01-08	Nat Commun	A genome-wide association study of marginal zone lymphoma shows association to the HLA region.	Marginal zone lymphoma	825 European ancestry cases, 6,221 European ancestry controls	456 European ancestry cases, 906 European ancestry controls	6p21.32	BTNL2	rs9461741-C	0.018	4E-15		2.66	[2.08-3.39]	Illumina [611856]	N
613	chr6_ssto_hap7	3720678	3720679	rs10947261	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs10947261-T	0.294	3E-12		1.36	[1.25-1.49]	Illumina [5664371] (imputed)	N
613	chr6_ssto_hap7	3720758	3720759	rs10947262	20305777	Nakajima M	2010-03-18	PLoS One	New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.	Knee osteoarthritis	899 Japanese ancestry cases, 3,396 Japanese ancestry controls	167 Japanese ancestry cases, 347 Japanese ancestry controls, 813 European ancestry  cases, 1,071 European ancestry controls,	6p21.32	HLA-DQA2, HLA-DQB1, BTNL2	rs10947262-T	0.42	5E-9		1.31	[1.20-1.44]	Illumina [459393]	N
613	chr6_ssto_hap7	3721146	3721147	rs3806156	20410501	Jin Y	2010-04-21	N Engl J Med	Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.	Vitiligo	1,392 European ancestry cases, 2,629 European ancestry controls	647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families	6p21.32	HLA-DRA, BTNL2, HLA-DQA1	rs3806156-T	0.37	7E-19		1.42	[1.32-1.54]	Illumina [520460]	N
613	chr6_ssto_hap7	3723418	3723419	rs3763309	24449572	Orozco G	2014-01-01	Arthritis Rheumatol	Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.	Rheumatoid arthritis	3,034 European ancestry cases, 5,271 European ancestry controls	4,726 European ancestry cases, 2,625 European ancestry controls	6p21.32	HLA-DRB1	rs3763309-?		2E-124		2.3	[2.14-2.46]	Affymetrix, Illumina [1831729] (imputed)	N
613	chr6_ssto_hap7	3723793	3723794	rs3763312	26039976	Wei Z	2015-06-17	Sci Rep	Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.	HIV-1 viral setpoint	326 Han Chinese ancestry cases, 58 Dai Chinese ancestry cases, 40 Jingpo Chinese ancestry cases, 83 Uygur Chinese ancestry cases, 11 Hui Chinese ancestry cases, 20 East Asian cases	NA	6p21.32	BTNL2, HLA-DRA	rs3763312-A	0.15	6E-6	(Han)	0.4002	unit decrease	Illumina [up to 528294]	N
613	chr6_ssto_hap7	3723916	3723917	rs3763313	20041166	Fellay J	2009-12-24	PLoS Genet	Common genetic variation and the control of HIV-1 in humans.	HIV-1 control	2,362 European ancestry cases	NA	6p21.32	NOTCH4, BTNL2	rs3763313-?	NR	2E-6	(progression)			Illumina [NR]	N
613	chr6_ssto_hap7	3724233	3724234	rs3763317	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DRB	rs3763317-C	0.37	9E-66	(Serum level of C4)	0.12	[0.10-0.14] g/L increase	Illumina [1940245] (imputed)	N
613	chr6_ssto_hap7	3726147	3726148	rs9268516	23028483	Ramasamy A	2012-09-28	PLoS One	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Asthma	1,716 European ancestry cases, 16,888 European ancestry controls	4,035 European ancestry cases, 11,251 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268516-T	0.24	1E-8		1.15	[1.10-1.21]	Affymetrix, Illumina [~ 2200000] (imputed)	N
613	chr6_ssto_hap7	3726394	3726395	rs9405098	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs9405098-A	0.253	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
613	chr6_ssto_hap7	3728393	3728394	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.517	2E-11		0.0224	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_ssto_hap7	3728393	3728394	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5158	5E-8	(women)	0.0241	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_ssto_hap7	3728393	3728394	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5154	4E-6	(men)	0.0223	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_ssto_hap7	3728393	3728394	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.511	4E-11	(EA)	0.0226	[0.016-0.029] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_ssto_hap7	3728393	3728394	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5107	2E-7	(EA, women)	0.0237	[0.015-0.033] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_ssto_hap7	3728393	3728394	rs7759742	25673412	Shungin D	2015-02-12	Nature	New genetic loci link adipose and insulin biology to body fat distribution.	Waist-to-hip ratio adjusted for body mass index	up to 56,910 European ancestry men, up to 86,570 European ancestry women	up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African-American/Afro-Caribbean ancestry men, 6,258 African-American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women	6p21.32	BTNL2	rs7759742-A	0.5106	5E-6	(EA, men)	0.0226	[0.013-0.032] unit increase	Affymetrix, Illumina, Perlegen [up to 2542447] (imputed)	N
613	chr6_ssto_hap7	3729712	3729713	rs4959027	23449627	Cousminer DL	2013-02-27	Hum Mol Genet	Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.	Pubertal anthropometrics	up to 5,043 European ancestry males, up to 5,756 European ancestry females	NA	6p21.32	TAP2, HLA-DRA	rs4959027-G	0.82	9E-7	(Pubertal growth)	0.09	[0.057-0.123] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
613	chr6_ssto_hap7	3729770	3729771	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_ssto_hap7	3729770	3729771	rs9268528	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_ssto_hap7	3731383	3731384	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_ssto_hap7	3731383	3731384	rs9268542	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_ssto_hap7	3734467	3734468	rs2395163	22451204	Pankratz N	2012-03-01	Ann Neurol	Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.	Parkinson's disease	4,238 European ancestry cases, 4,239 European ancestry controls	3,738 European ancestry cases, 2,111 European ancestry controls	6p21.32	LOC642072	rs2395163-?	NR	3E-11		1.24	[NR]	Illumina [2500000] (imputed)	N
613	chr6_ssto_hap7	3735801	3735802	rs116869525	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA-DRB1*08:03	rs116869525-T	0.083	1E-8	(trend)	4.16	[2.50-6.90] (allelic)	Affymetrix [522980]	N
613	chr6_ssto_hap7	3736306	3736307	rs3135363	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DR	rs3135363-?	NR	8E-7		1.51	[1.28-1.78]	Illumina [588026]	N
613	chr6_ssto_hap7	3736306	3736307	rs3135363	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3135363-C	0.702	1E-10		1.37	[1.24-1.51]	Illumina [431618]	N
613	chr6_ssto_hap7	3736306	3736307	rs3135363	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DR	rs3135363-?	NR	7E-22		1.53	[1.35-1.74]	Illumina [455508]	N
613	chr6_ssto_hap7	3736306	3736307	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
613	chr6_ssto_hap7	3736306	3736307	rs3135363	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
613	chr6_ssto_hap7	3739627	3739628	rs3135350	24962563	Rubicz R	2014-07-01	Genet Epidemiol	Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.	Food antigen IgG levels	1,367 Mexican Americans from 63 families	NA	6p21.32	NOTCH4, HLA-DRA, BTNL2	rs3135350-G	0.046	9E-8	(Gliadin)	0.51	[NR] unit increase	Illumina [944565] (imputed)	N
613	chr6_ssto_hap7	3747738	3747739	rs3129860	23321320	Urabe Y	2013-01-12	J Hepatol	A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.	Hepatitis C induced liver cirrhosis	682 Japanese ancestry cases, 1,045 Japanese ancestry controls	936 Japanese ancestry cases, 3,809 Japanese ancestry controls	6p21.32	intergenic	rs3129860-A	0.231	1E-9		1.36	[1.22-1.49]	Illumina [431618]	N
613	chr6_ssto_hap7	3747876	3747877	rs3135338	20159113	Jakkula E	2010-02-12	Am J Hum Genet	Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.	Multiple sclerosis	68 Finland founder cases, 136 Finland founder controls	83 Finland founder cases, 365 Finland founder controls 3,285 European ancestry cases, 6,379 European ancestry controls, 1,202 cases, 3,399 controls	6p21.32	HLA	rs3135338-A	0.13	2E-25		3.43	[NR]	Illumina [297343]	N
613	chr6_ssto_hap7	3753008	3753009	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRA	rs3129871-?	NR	1E-16	(OCB positive vs. controls)	1.98	[1.68-2.32]	Illumina [495970]	N
613	chr6_ssto_hap7	3753008	3753009	rs3129871	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases	3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases	6p21.32	HLA-DRA	rs3129871-?	NR	6E-15		1.72	[1.59-1.86]	Illumina [495970]	N
613	chr6_ssto_hap7	3755188	3755189	rs9268645	19430480	Barrett JC	2009-05-10	Nat Genet	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Type 1 diabetes	7,514 cases, 9,045 controls	4,267 cases, 4,670 controls, 4,342 trios from 2,319 families	6p21.32	MHC	rs9268645-?	NR	1E-100				Affymetrix, Illumina [841622] (imputed)	N
613	chr6_ssto_hap7	3756191	3756192	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	5E-10	(Sporadic)	1.38	[1.24-1.52]	Illumina [811597]	N
613	chr6_ssto_hap7	3756191	3756192	rs3129882	24511991	Hill-Burns EM	2014-02-10	BMC Genomics	Identification of a novel Parkinson's disease locus via stratified genome-wide association study.	Parkinson's disease	1,565 European ancestry sproadic Parkinson's disease cases, 435 European ancestry familial Parkinson's disease cases, 1,986 European ancestry controls	1,528 European ancestry sporadic Parkinson's disease cases, 707 European ancestry familial Parkinson's disease cases, 796 European ancestry controls	6p21.32	HLA	rs3129882-G	0.395	3E-8		1.31	[1.19-1.43]	Illumina [811597]	N
613	chr6_ssto_hap7	3756191	3756192	rs3129882	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRA	rs3129882-?	0.44	2E-27	(ATA positive)	2.17	[1.88-2.50]	Illumina [NR] (imputed)	N
613	chr6_ssto_hap7	3756191	3756192	rs3129882	20711177	Hamza TH	2010-08-15	Nat Genet	Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.	Parkinson's disease	2,000 European ancestry cases, 1,986 European ancestry controls	Up to 1,447 cases, 1,468 controls	6p21.32	HLA-DRA	rs3129882-G	0.40	2E-10		1.26	[1.17-1.35]	Illumina [811597]	N
613	chr6_ssto_hap7	3758307	3758308	rs7192	22541561	Zhao H	2012-04-26	Am J Hum Genet	A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.	Non-obstructive azoospermia	802 Han Chinese ancestry cases, 1,863 Han Chinese ancestry controls	1,424 Han Chinese ancestry cases, 2,713 Han Chinese ancestry controls	6p21.32	HLA-DRA	rs7192-T	0.26	3E-6		1.29	[NR]	Affymetrix, Illumina [912924]	N
613	chr6_ssto_hap7	3759104	3759105	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	LDL cholesterol	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	3E-17		0.045	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_ssto_hap7	3759104	3759105	rs3177928	24097068	Willer CJ	2013-10-06	Nat Genet	Discovery and refinement of loci associated with lipid levels.	Cholesterol, total	94,595 European ancestry individuals	93,982 European ancestry individuals	6p21.32	HLA	rs3177928-A	0.17	1E-21		0.048	[NR] unit increase	NR [NR] (imputed)	N
613	chr6_ssto_hap7	3759104	3759105	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	LDL cholesterol	95,454 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	2E-15		1.83	[1.36-2.3] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_ssto_hap7	3759104	3759105	rs3177928	20686565	Teslovich TM	2010-08-05	Nature	Biological, clinical and population relevance of 95 loci for blood lipids.	Cholesterol, total	100,184 European ancestry individuals	NA	6p21.32	HLA	rs3177928-A	0.16	4E-19		2.31	[1.78-2.84] mg/dL increase	Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)	N
613	chr6_ssto_hap7	3759720	3759721	rs3135388	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
613	chr6_ssto_hap7	3759720	3759721	rs3135388	19525953	De Jager PL	2009-06-14	Nat Genet	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.	Multiple sclerosis	2,624 European ancestry cases, 7,220 European ancestry controls	2,215 European ancestry cases, 2,116 European ancestry controls	6p21.32	HLA-DRB1	rs3135388-A	0.22	4E-225		2.75	[2.46-3.07]	Affymetrix, Illumina [~ 2560000] (imputed)	N
613	chr6_ssto_hap7	3759720	3759721	rs3135388	17660530	Hafler DA	2007-07-29	N Engl J Med	Risk alleles for multiple sclerosis identified by a genomewide study.	Multiple sclerosis	931 European ancestry trios, 2,431 European ancestry controls	609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls	6p21.32	HLA-DRA	rs3135388-A	0.23	9E-81		1.99	[1.84-2.15]	Affymetrix [334923]	N
613	chr6_ssto_hap7	3760128	3760129	rs2227139	19820697	Soranzo N	2009-10-11	Nat Genet	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Hematological parameters	4,627 European ancestry individuals	9,316 European ancestry individuals	6p21.32	intergenic	rs2227139-G	NR	1E-7	(WBC)	0.02	[0.01-0.03] 10^9/l increase	Affymetrix, Illumina [~ 2110000] (imputed)	N
613	chr6_ssto_hap7	3760214	3760215	rs3129889	22190364	Patsopoulos NA	2011-12-01	Ann Neurol	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Multiple sclerosis	5,545 European ancestry cases, 12,153 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3129889-G	0.20	1E-206		2.97	[NR]	Affymetrix, Illumina [2529394]	N
613	chr6_ssto_hap7	3760940	3760941	rs3129890	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DRA	rs3129890-T	0.61	5E-13		1.15	[1.11-1.20]	Illumina [458847]	N
613	chr6_ssto_hap7	3771682	3771683	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.72	1E-10	(East Asian)	1.3	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_ssto_hap7	3771682	3771683	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	2E-38		1.41	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_ssto_hap7	3771682	3771683	rs7763262	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs7763262-C	0.69	1E-30	(EA)	1.49	[NR]	Illumina [> 1000000] (imputed)	N
613	chr6_ssto_hap7	3775088	3775089	rs6903608	24920014	Cozen W	2014-06-12	Nat Commun	A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.	Hodgkin's lymphoma	1,816 European ancestry cases, 7,877 European ancestry controls	1,281 European ancestry cases, 3,218 European ancestry controls	6p21.32	HLA class II, HLA class I	rs6903608-C	0.30	7E-31		1.64	[1.51-1.78]	Affymetrix, Illumina [1004829] (imputed)	N
613	chr6_ssto_hap7	3775088	3775089	rs6903608	24149102	Frampton M	2013-10-22	Nat Commun	Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.	Hodgkin's lymphoma	1,465 European ancestry cases, 6,417 European ancestry controls	1,071 European ancestry cases, 953 cases, 1,853 controls	6p21.32	NR	rs6903608-G	0.27	5E-27		1.62	[NR]	Illumina [296129]	N
613	chr6_ssto_hap7	3775088	3775089	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
613	chr6_ssto_hap7	3775088	3775089	rs6903608	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
613	chr6_ssto_hap7	3775088	3775089	rs6903608	21037568	Enciso-Mora V	2010-10-31	Nat Genet	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	Hodgkin's lymphoma	589 European ancestry cases, 5,199 European ancestry controls	2,057 European ancestry cases, 3,416 European ancestry controls	6p21.32	HLA-DRA	rs6903608-G	0.27	3E-50		1.7	[1.58-1.82]	Illumina [504374]	N
613	chr6_ssto_hap7	3775575	3775576	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250	(EA)	2.47	[2.39-2.55]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_ssto_hap7	3775575	3775576	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.45	1E-250		2.28	[2.22-2.34]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_ssto_hap7	3775575	3775576	rs9268839	24390342	Okada Y	2013-12-25	Nature	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Rheumatoid arthritis	up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls	up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls	6p21.32	HLA-DRB1	rs9268839-G	0.44	2E-145	(East Asian)	1.9	[1.81-1.99]	Affymetrix, Illumina [up to 9739303] (imputed)	N
613	chr6_ssto_hap7	3776446	3776447	rs9268853	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	MHC	rs9268853-T	0.64	3E-6		1.37	[1.20-1.56]	Illumina [581060]	N
613	chr6_ssto_hap7	3776446	3776447	rs9268853	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	BTLN2, HLA-DRA, HLA-DRB5, HLA-DRB1	rs9268853-C	NR	2E-10	(FL)	1.56	[NR]	Affymetrix [530583]	N
613	chr6_ssto_hap7	3776446	3776447	rs9268853	21297633	Anderson CA	2011-02-06	Nat Genet	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Ulcerative colitis	6,687 European ancestry cases, 19,718 European ancestry controls	9,628 European ancestry cases, 12,917 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9268853-T	0.66	1E-55		1.4	[1.34-1.47]	Affymetrix, Illumina [~ 1100000] (imputed)	N
613	chr6_ssto_hap7	3776522	3776523	rs9268856	24943344	Ferrari R	2014-07-01	Lancet Neurol	Frontotemporal dementia and its subtypes: a genome-wide association study.	Frontotemporal dementia	1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls	690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2	rs9268856-C	0.748	6E-9	(All Frontotemporal dementia)	1.24	[1.16-1.32]	Illumina [6026385] (imputed)	N
613	chr6_ssto_hap7	3777947	3777948	rs9268877	19915572	Barrett JC	2009-11-15	Nat Genet	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.	Ulcerative colitis	2,361 European ancestry cases, 5,417 European ancestry controls	2,321 European ancestry cases, 4,818 European ancestry controls	6p21.32	MHC	rs9268877-?	NR	4E-23				Affymetrix [NR]	N
613	chr6_ssto_hap7	3777947	3777948	rs9268877	18836448	Franke A	2008-10-05	Nat Genet	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.	Ulcerative colitis	1,167 European ancestry cases, 777 European ancestry controls	1,855 European ancestry cases, 3,091 European ancestry controls	6p21.32	HLA-DRA, BTNL2	rs9268877-T	0.45	6E-18		1.45	[1.33-1.58]	Affymetrix [355262]	N
613	chr6_ssto_hap7	3778880	3778881	rs9268905	21602797	Wright FA	2011-05-22	Nat Genet	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Cystic fibrosis severity	2,317 European ancestry cases, 177 cases	898 European ancestry sibling pair cases, 75 sibling pair cases	6p21.32	HLA-DRA	rs9268905-C	0.32	1E-7				Illumina [~ 2609000] (imputed)	N
613	chr6_ssto_hap7	3779638	3779639	rs9268923	20228798	Franke A	2010-03-14	Nat Genet	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).	Ulcerative colitis	1,043 European ancestry cases, 1,703 European ancestry controls	2,539 European ancestry cases, 5,428 European ancestry controls	6p21.32	HLA-DRA	rs9268923-C	0.67	4E-15		1.45	[1.33-1.59]	Affymetrix [1897764] (imputed)	N
613	chr6_ssto_hap7	3779971	3779972	rs2395185	25186300	Terao C	2014-09-03	Arthritis Rheumatol	An association between anti-nuclear antibody and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study.	Antinuclear antibody levels	3,185 Japanese ancestry individuals	3,963 Japanese ancestry individuals	6p21.32	HLA-DRA, HLA-DRB5	rs2395185-?	NR	1E-11		0.25	unit increase	Illumina [303506]	N
613	chr6_ssto_hap7	3779971	3779972	rs2395185	23143601	Lan Q	2012-11-11	Nat Genet	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.	Lung cancer	5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls	1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls	6p21.32	HLA class II	rs2395185-T	0.35	1E-8		1.17	[1.11-1.23]	Illumina [596032]	N
613	chr6_ssto_hap7	3779971	3779972	rs2395185	22286212	Urayama KY	2012-01-27	J Natl Cancer Inst	Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.	Hodgkin's lymphoma	1,200 European ancestry cases, 6,417 European ancestry controls	563 European ancestry cases, 613 European ancestry controls	6p21.32	HLA-DRA	rs2395185-?	NR	4E-31	(Total cHL)	1.82	[1.67-2.00]	Illumina [502514]	N
613	chr6_ssto_hap7	3779971	3779972	rs2395185	20228799	McGovern DP	2010-03-14	Nat Genet	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Ulcerative colitis	2,693 European ancestry cases, 6,791 European ancestry controls	2,009 European ancestry cases, 1,580 European ancestry controls	6p21.32	C6orf10, BTNL2, HLA	rs2395185-G	NR	9E-23		1.49	[NR]	Illumina [266047]	N
613	chr6_ssto_hap7	3779971	3779972	rs2395185	19915573	Asano K	2009-11-15	Nat Genet	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.	Ulcerative colitis	376 Japanese ancestry cases, 934 Japanese ancestry controls	376 Japanese ancestry cases, 1,097 Japanese ancestry controls	6p21.32	intergenic	rs2395185-G	0.61	5E-22		1.92	[1.68-2.19]	Illumina [513923]	N
613	chr6_ssto_hap7	3779971	3779972	rs2395185	19122664	Silverberg MS	2009-01-04	Nat Genet	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Ulcerative colitis	1,022 European ancestry cases, 2,503 European ancestry controls	1,387 European ancestry cases, 1,115 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, BTNL2, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs2395185-?	0.67	1E-16		1.52		Illumina [280748]	N
613	chr6_ssto_hap7	3790979	3790980	rs12194148	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs12194148-?	NR	5E-58	(ACPA-positive RA vs controls)			Illumina [1723056] (imputed)	N
613	chr6_ssto_hap7	3791331	3791332	rs12195582	25279986	Skibola CF	2014-10-02	Am J Hum Genet	Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.	Follicular lymphoma	2,728 European ancestry cases, 7,758 European ancestry controls	1,795 European ancestry cases, 5,586 European ancestry controls	6p21.32	HLA	rs12195582-T	0.465	5E-100		1.78	[1.69-1.88]	Illumina [up to 21554489]	N
613	chr6_ssto_hap7	3793497	3793498	rs7453498	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Dementia and core Alzheimer's disease neuropathologic changes	up to 3,887 cases, up to 1,027 controls	NA	6p21.32	intergenic	rs7453498-C	0.8656	3E-6	(Complete)	0.8142	[0.47-1.16] unit increase	Affymetrix, Illumina [NR] (imputed)	N
614	chr6_ssto_hap7	3833016	3833017	rs2157337	21156761	Padyukov L	2010-12-14	Ann Rheum Dis	A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.	Rheumatoid arthritis	1,147 European ancestry ACPA positive RA cases, 774 European ancestry ACPA negative RA cases, 1,079 European ancestry controls	887 European ancestry ACPA positive RA cases, 1,218 European ancestry controls	6p21.32	HLA	rs2157337-?	NR	9E-52	(ACPA-positive RA vs ACPA-negative RA)			Illumina [1723056] (imputed)	N
614	chr6_ssto_hap7	3850820	3850821	rs3828840	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DRB1	rs3828840-?	NR	5E-15	(OCB positive vs. controls)	1.94	[1.64-2.29]	Illumina [495970]	N
614	chr6_ssto_hap7	3912459	3912460	rs9406351	25188341	Beecham GW	2014-09-04	PLoS Genet	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.	Neuritic plaque	up to 4,232 individuals	NA		intergenic	rs9406351-G	0.9433	3E-6	(Ordinal)	0.8443	[0.49-1.2] unit increase	Affymetrix, Illumina [NR] (imputed)	N
615	chr6_ssto_hap7	4003584	4003585	rs477515	24282030	Pan L	2013-11-28	Hum Mol Genet	A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.	Hepatitis B vaccine response	108 Han Chinese ancestry high-responder cases, 77 Han Chinese ancestry non-responder controls	1,336 Han Chinese ancestry high-responder cases, 420 Han Chinese ancestry non-responder controls	6p21.32	HLA-DRA, BTNL2, HLA-DRB1, C6orf10	rs477515-T	0.442	3E-19		2.05	[1.75-2.41]	Illumina [588026]	N
615	chr6_ssto_hap7	4003584	4003585	rs477515	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	HLA-DRB1	rs477515-T	0.32	3E-13	(Quantitative)	0.28	[NR] unit decrease	Illumina [944565]	N
615	chr6_ssto_hap7	4003584	4003585	rs477515	18758464	Kugathasan S	2008-08-31	Nat Genet	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.	Inflammatory bowel disease	1,011 European ancestry cases, 4,250 European ancestry controls	1,922 European ancestry cases, 14,124 European ancestry controls	6p21.32	HLA-DQA1	rs477515-?	0.69	1E-8		1.38	[1.23-1.54]	Illumina [NR]	N
615	chr6_ssto_hap7	4005843	4005844	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (GAATC)	8E-18		2.5	[NR]	Illumina [705591]	N
615	chr6_ssto_hap7	4005843	4005844	rs2858870	22086417	Cozen W	2011-11-15	Blood	A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.	Nodular sclerosis Hodgkin lymphoma	393 European ancestry cases, 3,315 European ancestry controls	113 European ancestry cases, 214 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1	rs204999-?,rs9268528-?,rs9268542-?,rs6903608-?,rs2858870-?	NR (AGGCT)	2E-7		1.7	[NR]	Illumina [705591]	N
615	chr6_ssto_hap7	4007055	4007056	rs9270965	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9270965-?	NR	5E-12		1.72	[NR]	Affymetrix [603382]	N
615	chr6_ssto_hap7	4007213	4007214	rs602875	20018961	Zhang FR	2009-12-16	N Engl J Med	Genomewide association study of leprosy.	Leprosy	706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls	3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs602875-A	0.68	5E-27		1.61	[1.39-1.61]	Illumina [491883]	N
615	chr6_ssto_hap7	4007580	4007581	rs9270984	23273568	Yang W	2012-12-27	Am J Hum Genet	Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.	Systemic lupus erythematosus	1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls	3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls	6p21.32	HLA-DRB1	rs9270984-T	0.18	5E-24		1.73		Illumina [2100739] (imputed)	N
615	chr6_ssto_hap7	4007649	4007650	rs9270986	25643325	Renton AE	2015-04-01	JAMA Neurol	A Genome-wide Association Study of Myasthenia Gravis.	Myasthenia gravis	972 European ancestry cases, 1,977 European ancestry controls	423 European ancestry cases, 467 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9270986-A	0.15	6E-8		1.43	[NR]	Illumina [8114394] (imputed)	N
615	chr6_ssto_hap7	4007760	4007761	rs615672	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	HLA-DRB1	rs615672-?	NR	8E-27				Affymetrix [469557]	N
615	chr6_ssto_hap7	4009265	4009266	rs3021304	25108386	Hou S	2014-08-10	Nat Genet	Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.	Vogt-Koyanagi-Harada syndrome	774 Han Chinese ancestry cases, 2,009 Han Chinese ancestry controls	764 Han Chinese ancestry cases, 3594 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3021304-G	0.346	1E-118		2.97	[2.71-3.26]	Affymetrix, Illumina [2208258] (imputed)	N
615	chr6_ssto_hap7	4009342	4009343	rs9461776	25030430	Zignego AL	2014-07-17	Genes Immun	Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.	Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection	356 European ancestry cases, 447 European ancestry controls	92 European ancestry cases, 179 European ancestry controls	6p21.32	HLA-DQA1, HLA-DRB1	rs9461776-G	0.29	7E-9		2.02	[NR]	Illumina [899641]	N
615	chr6_ssto_hap7	4010083	4010084	rs9271100	25642632	Liu H	2015-02-02	Nat Genet	Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.	Leprosy	1,548 Chinese ancestry cases, 2,150 Chinese ancestry controls, 4,362 Chinese ancestry controls with immune-related diseases	6,765 Chinese ancestry cases, 9,505 Chinese ancestry controls	6p21.32	HLA-DR-DQ	rs9271100-T	0.217	8E-95		1.68	[NR]	Illumina [4577171] (imputed)	N
615	chr6_ssto_hap7	4010083	4010084	rs9271100	19838193	Han JW	2009-10-18	Nat Genet	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.	Systemic lupus erythematosus	1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls	3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs9271100-?	NR	1E-12		1.9	[1.59-2.27]	Illumina [493955]	N
615	chr6_ssto_hap7	4010400	4010401	rs9271117	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (onset before 2009 H1N1 influenza pandemic)	up to 893 Chinese ancestry cases with onset before the 2009 H1N1 influenza pandemic, up to 373 Chinese ancestry cases with onset after the 2009 H1N1 influenza pandemic	NA	6p21.32	NR	rs9271117-?	NR	6E-14		1.75	[NR]	Affymetrix [603382]	N
615	chr6_ssto_hap7	4010983	4010984	rs660895	26028593	Li M	2015-06-01	Nat Commun	Identification of new susceptibility loci for IgA nephropathy in Han Chinese.	IgA nephropathy	1,434 Han Chinese ancestry cases, 10,661 Han Chinese ancestry controls	6,879 Han Chinese ancestry cases, 9,019 Han Chinese ancestry controls	6p21.32	NR	rs660895-G	0.259	1E-10		1.289	[1.184-1.402]	Illumina [3792949] (imputed)	N
615	chr6_ssto_hap7	4010983	4010984	rs660895	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DRB1	rs660895-G	0.24	4E-20		1.34	[1.26-1.42]	Illumina [444882]	N
615	chr6_ssto_hap7	4010983	4010984	rs660895	17804836	Plenge RM	2007-09-05	N Engl J Med	TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.	Rheumatoid arthritis	1,522 European ancestry cases, 1,850 European ancestry controls	1,053 European ancestry cases, 1,858 European ancestry controls	6p21.32	HLA-DRB1	rs660895-?	0.21	1E-108		3.62	[NR]	Illumina [297086]	N
615	chr6_ssto_hap7	4011680	4011681	rs674313	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DRB5	rs674313-T	0.26	7E-9		1.69	[1.41-2.01]	Affymetrix [827777]	N
615	chr6_ssto_hap7	4012128	4012129	rs9271192	24162737	European Alzheimer's Disease Initiative (EADI)	2013-10-27	Nat Genet	Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.	Alzheimer's disease (late onset)	17,008 European ancestry cases, 37,154 European ancestry controls	8,572 European ancestry cases, 11,312 European ancestry controls	6p21.32	HLA-DRB5, HLA-DRB1	rs9271192-C	0.276	3E-12		1.11	[1.08-1.18]	Illumina [7055881] (imputed)	N
615	chr6_ssto_hap7	4012633	4012634	rs9271209	26192919	Liu JZ	2015-07-20	Nat Genet	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	Ulcerative colitis	6,968 European ancestry cases, 20,464 European ancestry controls	10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls	6p21.32	NR	rs9271209-?	NR	2E-85	(EA)			Affymetrix, Illumina [~ 9000000] (imputed)	N
615	chr6_ssto_hap7	4015475	4015476	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-6	(LYM)	1.29	[1.16-1.43]	Affymetrix [530583]	N
615	chr6_ssto_hap7	4015475	4015476	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	3E-12	(FL)	1.93	[NR]	Affymetrix [530583]	N
615	chr6_ssto_hap7	4015475	4015476	rs4530903	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DRB5, HLA-DQA1	rs4530903-T	NR	2E-8	(NHL)	1.37	[1.23-1.54]	Affymetrix [530583]	N
615	chr6_ssto_hap7	4015475	4015476	rs4530903	23212062	Fanous AH	2012-12-01	Am J Psychiatry	Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.	Schizophrenia	2,454 European ancestry cases	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs4530903-?	NR	5E-6	(Negative/disorganized symptoms)	0.0919	[NR] unit increase	Affymetrix [696491]	N
615	chr6_ssto_hap7	4017328	4017329	rs9271348	24532677	Bossini-Castillo L	2014-02-14	Ann Rheum Dis	A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.	Rheumatoid arthritis (ACPA-negative)	1,148 European ancestry cases, 6,008 European ancestry controls	774 European ancestry cases, 1,079 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271348-?		5E-7		1.2821	[NR]	Illumina [452367]	N
615	chr6_ssto_hap7	4020449	4020450	rs9271366	23850713	Yang SK	2013-07-14	Gut	Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.	Crohn's disease	532 Korean ancestry cases, 733 Korean ancestry controls	1,779 Korean ancestry cases, 1,709 Korean ancestry controls	6p21.32	HLA-DRA, HLA-DRB5, BTNL2, HLA-DRB1, HLA-DQA1	rs9271366-A	0.888	5E-12		1.66	[1.44-1.92]	Illumina [5664371] (imputed)	N
615	chr6_ssto_hap7	4020449	4020450	rs9271366	23511034	Yang SK	2013-04-01	Inflamm Bowel Dis	Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.	Ulcerative colitis	388 Korean ancestry cases, 739 Korean ancestry controls	417 Korean ancestry cases, 732 Korean ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9271366-G	0.11	1E-18		2.1	[1.78-2.48]	Illumina [581060]	N
615	chr6_ssto_hap7	4020449	4020450	rs9271366	21699788	Okada Y	2011-06-20	Gastroenterology	HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.	Ulcerative colitis or Crohn's disease	372 Japanese ancestry Crohn's disease cases, 372 Japanese ancestry ulcerative colitis cases	607 Japanese ancestry Crohn's disease cases, 376 Japanese ancestry ulcerative colitis cases	6p21.32	MHC, HLA-DRB1	rs9271366-C	0.21	2E-70	(UC vs. CD)	4.44	[3.74-5.27]	Illumina [461368]	N
615	chr6_ssto_hap7	4020449	4020450	rs9271366	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-?	0.85	3E-33		7.69	[5.26-11.11]	Illumina [2057134] (imputed)	N
615	chr6_ssto_hap7	4020449	4020450	rs9271366	20598377	Nischwitz S	2010-06-30	J Neuroimmunol	Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.	Multiple sclerosis	590 European ancestry cases, 825 European ancestry controls	NA	6p21.32	DQA1	rs9271366-G	NR	4E-17		2.62	[2.09-3.28]	Illumina [~ 300000]	N
615	chr6_ssto_hap7	4020449	4020450	rs9271366	19525955	Bahlo	2009-06-14	Nat Genet	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.	Multiple sclerosis	1,618 European ancestry cases, 3,413 European ancestry controls	2,256 European ancestry cases, 2,310 European ancestry controls	6p21.32	HLA-DRB1	rs9271366-G	0.15	7E-184		2.78	[NR]	Illumina [302098]	N
615	chr6_ssto_hap7	4022858	4022859	rs35597309	25129146	Wu C	2014-08-17	Nat Genet	Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.	Esophageal squamous cell carcinoma	5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls	9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry  controls	6p21.32	HLA	rs35597309-A	0.072	1E-7		1.19	[1.12-1.27]	Affymetrix, Illumina [7556215] (imputed)	N
615	chr6_ssto_hap7	4024521	4024522	rs3129763	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs3129763-?	0.25	1E-11	(ATA positive)	1.65	[1.42-1.91]	Illumina [NR] (imputed)	N
615	chr6_ssto_hap7	4024549	4024550	rs9271588	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1, c6orf10, BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB6	rs9271588-T	0.532	9E-37		1.75	[1.59-1.89]	Affymetrix [556134]	N
615	chr6_ssto_hap7	4025781	4025782	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DRB1	rs9271640-A	NR	5E-12		1.56	[1.38-1.77]	NR [485522]	N
615	chr6_ssto_hap7	4025781	4025782	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
615	chr6_ssto_hap7	4025781	4025782	rs9271640	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
615	chr6_ssto_hap7	4025781	4025782	rs9271640	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA1	rs9271640-?	NR	2E-20	(OCB positive vs. controls)	2.37	[1.97-2.84]	Illumina [495970]	N
615	chr6_ssto_hap7	4026191	4026192	rs28421666	20512145	Bei JX	2010-05-30	Nat Genet	A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.	Nasopharyngeal carcinoma	1,583 Chinese ancestry cases, 1,894 Chinese ancestry controls	3,507 Chinese ancestry cases, 3,063 Chinese ancestry controls, 284  Chinese ancestry trios	6p21.32	HLA-DQ, HLA-DR	rs28421666-?	0.88	2E-18		1.49	[1.37-1.64]	Illumina [464328]	N
615	chr6_ssto_hap7	4028682	4028683	rs9271858	23291585	Fakiola M	2013-01-06	Nat Genet	Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.	Leishmaniasis (visceral)	989 Indian ancestry cases, 1,089 Indian ancestry controls, 357 Brazilian ancestry cases, 1,613 Brazilian ancestry unaffected relatives	951 Indian ancestry cases, 990 Indian ancestry controls	6p21.32	HLA, HLA-DRB1, HLA-DQA1	rs9271858-G	0.39	3E-17		1.41	[1.30-1.52]	Illumina [521134]	N
615	chr6_ssto_hap7	4033444	4033445	rs9272105	22807686	Li S	2012-07-12	PLoS Genet	GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.	Hepatocellular carcinoma	1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers	4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.45	5E-22		1.28	[1.22-1.35]	NR [523663]	N
615	chr6_ssto_hap7	4033444	4033445	rs9272105	21502966	Weber F	2011-04-19	Pharmacogenomics J	Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-&#x003b2; therapy in multiple sclerosis patients.	Response to interferon beta therapy	178 European ancestry antibody-positive individuals, 184 European ancestry antibody-negative individuals	350 European ancestry antibody-positive individuals, 468 European ancestry antibody-negative individuals	6p21.32	HLA-DRB1, HLA-DQA1	rs9272105-A	0.44	4E-10		0.26	[NR] unit increase	Illumina [~ 317000]	N
615	chr6_ssto_hap7	4034247	4034248	rs9272143	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DRB1, HLA-DQA1	rs9272143-?	NR	3E-22		1.49	[1.37-1.61]	Illumina [632668]	N
615	chr6_ssto_hap7	4035713	4035714	rs9272219	19571809	Shi J	2009-07-01	Nature	Common variants on chromosome 6p22.1 are associated with schizophrenia.	Schizophrenia	2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls	5,327 European ancestry cases, 16,424 European ancestry controls	6p21.32	HLA-DQA1	rs9272219-G	0.72	7E-8	(EA)	1.14	[NR]	Affymetrix [up to 843798]	N
615	chr6_ssto_hap7	4036451	4036452	rs2040406	20453840	Sanna S	2010-05-09	Nat Genet	Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.	Multiple sclerosis	882 Sardinian cases, 872 Sardinian controls	1,775 Sardinian cases, 2,005 Sardinian controls	6p21.32	HLA-DQB1, HLA-DRB	rs2040406-G	0.26	1E-20		2.05	[NR]	Affymetrix [6607266] (imputed)	N
615	chr6_ssto_hap7	4037819	4037820	rs9272346	23181788	Lasky-Su J	2012-12-04	Clin Exp Allergy	HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.	Asthma	Up to 1,238 European ancestry cases, up to 2,617 European ancestry controls	Up to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents	6p21.32	HLA-DQA1	rs9272346-?	NR	2E-8	(Adult)			Affymetrix [455089]	N
615	chr6_ssto_hap7	4037819	4037820	rs9272346	18978792	Cooper JD	2008-11-02	Nat Genet	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Type 1 diabetes	3,561 European ancestry cases, 4,646 European ancestry controls	6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families	6p21.32	HLA	rs9272346-G	NR	6E-129				Affymetrix [up to 335565]	N
615	chr6_ssto_hap7	4037819	4037820	rs9272346	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Type 1 diabetes	1,963 European ancestry cases, 2,938 European ancestry controls	(see Todd 2007)	6p21.32	MHC	rs9272346-G	0.61	5E-134		5.49	[4.83-6.24]	Affymetrix [469557]	N
615	chr6_ssto_hap7	4039335	4039336	rs2187668	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	NR	1E-9				Affymetrix [up to 700598]	N
615	chr6_ssto_hap7	4039335	4039336	rs2187668	25827949	Kunz M	2015-05-04	Exp Dermatol	Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.	Cutaneous lupus erythematosus	151 European ancestry cases, 1,288 European ancestry controls	219 European ancestry cases, 262 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-T	0.107	4E-10		2.93	[2.18-3.95]	Affymetrix [906600]	N
615	chr6_ssto_hap7	4039335	4039336	rs2187668	24768677	de Boer YS	2014-04-23	Gastroenterology	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	Autoimmune hepatitis type-1	649 European ancestry cases, 13,436 European ancestry controls	451 European ancestry cases, 4,103 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-?	0.15	2E-78		2.9	[2.60-3.40]	Illumina [254006]	N
615	chr6_ssto_hap7	4039335	4039336	rs2187668	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DR3	rs2187668-A	0.12	6E-28	(anti-dsDNA +)	2.23	[1.94-2.57]	Illumina [421318] (imputed)	N
615	chr6_ssto_hap7	4039335	4039336	rs2187668	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	HLA-DQA1	rs2187668-A	0.1297	8E-93		4.32	[NR]	Illumina [242824]	N
615	chr6_ssto_hap7	4039335	4039336	rs2187668	20694011	Ferreira RC	2010-08-08	Nat Genet	Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.	Immunoglobulin A	430 European ancestry cases, 1,090 European ancestry controls	342 European ancestry cases, 886 European ancestry controls	6p21.32	HLA-DRB1	rs2187668-A	0.13	2E-33		2.53	[2.17-2.95]	Illumina [2057134] (imputed)	N
615	chr6_ssto_hap7	4039335	4039336	rs2187668	20190752	Dubois PC	2010-02-28	Nat Genet	Multiple common variants for celiac disease influencing immune gene expression.	Celiac disease	4,533 European ancestry cases, 10,750 European ancestry controls	4,918 European ancestry cases, 5,684 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs2187668-A	0.26	1E-50		6.23	[5.95-6.52]	Illumina [292387]	N
615	chr6_ssto_hap7	4039335	4039336	rs2187668	18204098	Hom G	2008-01-20	N Engl J Med	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.	Systemic lupus erythematosus	1,311 European ancestry cases, 3,340 European ancestry controls	793 European ancestry cases, 857 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.11	3E-21				Illumina [502033]	N
615	chr6_ssto_hap7	4039335	4039336	rs2187668	17558408	van Heel DA	2007-06-10	Nat Genet	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.	Celiac disease	778 European ancestry cases, 1,422 European ancestry controls	991 European ancestry cases, 1,489 European ancestry controls	6p21.32	HLA-DQA1	rs2187668-A	0.14	1E-19		7.04	[6.08-8.15]	Illumina [310605]	N
615	chr6_ssto_hap7	4040184	4040185	rs9272535	21131588	Slager SL	2010-12-03	Blood	Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.	Chronic lymphocytic leukemia	407 European ancestry cases, 296 European ancestry controls	252 European ancestry cases, 965 European ancestry controls	6p21.32	HLA-DQA1	rs9272535-A	0.27	9E-8		1.61	[1.35-1.92]	Affymetrix [827777]	N
615	chr6_ssto_hap7	4045812	4045813	rs6927022	23128233	Jostins L	2012-11-01	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Ulcerative colitis	Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls	Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DQA1	rs6927022-A	0.535	5E-133		1.444	[1.387-1.503]	Affymetrix, Illumina [1230000] (imputed)	N
615	chr6_ssto_hap7	4054612	4054613	rs9273349	20860503	Moffatt MF	2010-09-23	N Engl J Med	A large-scale, consortium-based genomewide association study of asthma.	Asthma	10,365 cases, 16,110 controls	NA	6p21.32	HLA-DQ	rs9273349-C	0.58	7E-14		1.18	[1.13-1.24]	Illumina [582892]	N
615	chr6_ssto_hap7	4054873	4054874	rs7744020	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs7744020-A	0.272	8E-9		1.9	year decrease	Affymetrix [603382]	N
615	chr6_ssto_hap7	4055015	4055016	rs9273363	23770605	Berndt SI	2013-06-16	Nat Genet	Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	Chronic lymphocytic leukemia	2,179 European ancestry cases, 6,221 European ancestry controls	1,709 European ancestry cases, 6,318 European ancestry controls	6p21.32	HLA	rs9273363-A	0.27	2E-10		1.24	[NR]	Illumina [549934]	N
615	chr6_ssto_hap7	4055054	4055055	rs6906021	23817571	Bonnelykke K	2013-06-30	Nat Genet	Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.	Allergic sensitization	5,789 European ancestry cases, 10,056 European ancestry controls	6,114 European ancestry cases, 9,920 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.45	2E-12		1.15	[1.11-1.2]	Affymetrix, Illumina [~ 2500000] (imputed)	N
615	chr6_ssto_hap7	4055054	4055055	rs6906021	23817569	Hinds DA	2013-06-30	Nat Genet	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	Self-reported allergy	53,862 European ancestry individuals	NA	6p21.32	HLA-DQB1, HLA-DQA1	rs6906021-C	0.4749	7E-15		0.0945	[0.071-0.118] unit increase	Illumina [2400000] (imputed)	N
615	chr6_ssto_hap7	4055342	4055343	rs9273373	24388013	Ferreira MA	2013-12-30	J Allergy Clin Immunol	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	Asthma and hay fever	6,685 European ancestry cases, 14,091 European ancestry controls	878 European ancestry cases, 2,455 European ancestry controls	6p21.32	HLA-DQB1	rs9273373-G	0.54	4E-14		1.24	[1.17-1.30]	Illumina [up to 4972397] (imputed)	N
615	chr6_ssto_hap7	4056465	4056466	rs1063355	24837172	Juyal G	2014-05-16	Gut	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.	Ulcerative colitis	603 North Indian ancestry cases, 622 North Indian ancestry controls	733 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQB1, HLA-DRA, HLA-DQA1	rs1063355-A	NR	2E-6		1.43	[1.23-1.66]	Illumina [480391]	N
615	chr6_ssto_hap7	4057181	4057182	rs2854275	23326239	Rubicz R	2013-01-10	PLoS Genet	A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).	Epstein-Barr virus immune response (EBNA-1)	1,367 Mexican American indivduals	589 Mexican American indivduals	6p21.32	PSORS1C1, BAT2, EHMT2, HLA-DQB1, C6orf15, BAT4, NOTCH4, PRRT1, HLA-B	rs2854275-T	0.064	2E-10	(Conditional on rs477515 - Quantitative)	0.45	[NR] unit decrease	Illumina [944565]	N
616	chr6_ssto_hap7	4065775	4065776	rs9274623	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs9274623-G	NR	6E-19		1.1363636	[NR]	Illumina [7158791] (imputed)	N
616	chr6_ssto_hap7	4083022	4083023	rs17212223	24204295	Han F	2013-10-31	PLoS Genet	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	Narcolepsy (age of onset)	at least 1,000 Chinese ancestry cases	NA	6p21.32	NR	rs17212223-T	0.191	3E-8		1.95	year decrease	Affymetrix [603382]	N
616	chr6_ssto_hap7	4086696	4086697	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
616	chr6_ssto_hap7	4086696	4086697	rs2856683	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
616	chr6_ssto_hap7	4088921	4088922	rs3129716	26316170	Demirci FY	2015-08-28	Arthritis Rheumatol	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Systemic lupus erythematosus	661 European ancestry cases, 487 European ancestry controls	4,467 European ancestry cases, 9,114 European ancestry controls	6p21.32	HLA-DQB1	rs3129716-?	NR	4E-9				Affymetrix [up to 700598]	N
616	chr6_ssto_hap7	4089063	4089064	rs7774434	21399635	Mells GF	2011-03-13	Nat Genet	Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	Primary biliary cirrhosis	1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)	620 European ancestry cases, 2,514 European ancestry controls	6p21.32	MHC	rs7774434-C	0.38	4E-34		1.6	[1.48-1.73]	Illumina [507467]	N
616	chr6_ssto_hap7	4089063	4089064	rs7774434	20639880	Liu X	2010-07-18	Nat Genet	Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.	Primary biliary cirrhosis	453 European ancestry cases, 945 European ancestry controls,	481 European ancestry cases, 3,706 European ancestry controls	6p21.32	HLA-DQB1	rs7774434-C	0.371	3E-26		1.75	[NR]	Illumina [276459]	N
616	chr6_ssto_hap7	4089567	4089568	rs7775228	22036096	Ramasamy A	2011-11-01	J Allergy Clin Immunol	A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.	IgE grass sensitization	2,315 European ancestry cases, 10,032 European ancestry controls	NA	6p21.32	HLA region	rs7775228-C	0.13	2E-9		1.33	[1.21-1.45]	Affymetrix, Illumina [2217510] (imputed)	N
616	chr6_ssto_hap7	4089567	4089568	rs7775228	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQB1	rs7775228-A	0.63	5E-15		1.17	[1.12-1.21]	Illumina [458847]	N
616	chr6_ssto_hap7	4089798	4089799	rs9469220	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQB1	rs9469220-G	NR	2E-7		0.09	[0.05-0.12] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
616	chr6_ssto_hap7	4089798	4089799	rs9469220	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Crohn's disease	1,748 European ancestry cases, 2,938 European ancestry controls	(see Parkes 2007)	6p21.32	NR	rs9469220-A	0.48	2E-6		1.14	[0.98-1.32]	Affymetrix [469557]	N
616	chr6_ssto_hap7	4091360	4091361	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.59	8E-14	(East Asian)	1.38		Illumina [> 1000000] (imputed)	N
616	chr6_ssto_hap7	4091360	4091361	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-30		1.36	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_ssto_hap7	4091360	4091361	rs9275224	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275224-G	0.51	6E-18	(EA)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_ssto_hap7	4095811	4095812	rs3129720	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQB1	rs3129720-?	NR	5E-15	(OCB positive vs. controls)	1.91	[1.62-2.24]	Illumina [495970]	N
616	chr6_ssto_hap7	4095811	4095812	rs3129720	22493691	Eriksson N	2012-04-06	PLoS One	Novel associations for hypothyroidism include known autoimmune risk loci.	Hypothyroidism	3,736 European ancestry cases, 35,546 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQB1, HLA-DRB9, HLA-DRB5, HLA-DRB1, HLA-DQA1	rs3129720-C	0.764	5E-7		1.16	(1.10-1.23)	Illumina [870065]	N
616	chr6_ssto_hap7	4096032	4096033	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
616	chr6_ssto_hap7	4096032	4096033	rs6457617	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1	rs6457617-A	NR	7E-17		0.127	[NR] unit decrease	NR [485236]	N
616	chr6_ssto_hap7	4096032	4096033	rs6457617	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DRB1, DQA1, DQB1	rs6457617-T	0.45	7E-33		1.4	[1.32-1.48]	Illumina [486049]	N
616	chr6_ssto_hap7	4096032	4096033	rs6457617	21750679	Allanore Y	2011-07-07	PLoS Genet	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	Systemic sclerosis	564 European ancestry cases, 1,776 European ancestry controls	1,682 European ancestry cases, 3,926 European ancestry controls	6p21.32	HLA, DQB1	rs6457617-T	0.50	2E-37		1.61	[1.49-1.72]	Illumina [489814]	N
616	chr6_ssto_hap7	4096032	4096033	rs6457617	20383147	Radstake TR	2010-04-11	Nat Genet	Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.	Systemic sclerosis	2,296 European ancestry cases, 5,171 European ancestry controls	2,753 European ancestry cases, 4,569 European ancestry controls	6p21.32	HLA-DQB1	rs6457617-?	0.53	4E-17		1.37	[1.28-1.47]	Illumina [279621]	N
616	chr6_ssto_hap7	4096032	4096033	rs6457617	18668548	Julia A	2008-08-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.	Rheumatoid arthritis	400 European ancestry cases, 400 European ancestry controls	410 European ancestry cases, 394 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQA1	rs6457617-?	NR	1E-9				Illumina [299918]	N
616	chr6_ssto_hap7	4096032	4096033	rs6457617	17554300	WTCCC	2007-06-07	Nature	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.	Rheumatoid arthritis	1,860 European ancestry cases, 2,938 European ancestry controls	NA	6p21.32	MHC	rs6457617-T	0.49	5E-75		2.36	[1.97-2.84]	Affymetrix [469557]	N
616	chr6_ssto_hap7	4096179	4096180	rs6457620	20881960	Lango Allen H	2010-09-29	Nature	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Height	133,653 European ancestry individuals	50,074 European ancestry individuals	6p21.32	HLA locus	rs6457620-C	0.51	2E-16		0.029	[NR] unit decrease	Affymetrix, Illumina [2834208] (imputed)	N
616	chr6_ssto_hap7	4096179	4096180	rs6457620	18794853	Raychaudhuri S	2008-09-14	Nat Genet	Common variants at CD40 and other loci confer risk of rheumatoid arthritis.	Rheumatoid arthritis	3,393 European ancestry cases, 12,460 European ancestry controls	3,929 European ancestry cases, 5,807 European ancestry controls	6p21.32	HLA-DRB1	rs6457620-?	0.50	4E-186		2.55	[2.40-2.71]	Affymetrix, Illumina [at least 315971] (imputed)	N
616	chr6_ssto_hap7	4096638	4096639	rs2647012	24925725	Chung SA	2014-06-12	J Am Soc Nephrol	Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.	Lupus nephritis in systemic lupus erythematosus	588 European ancestry cases, 1,412 European ancestry controls	NA	6p21.32	intergenic	rs2647012-?	NR	3E-7	(Additive)	1.52	[1.3-1.75]	Affymetrix, Illumina [1621689] (imputed)	N
616	chr6_ssto_hap7	4096638	4096639	rs2647012	21533074	Smedby KE	2011-04-21	PLoS Genet	GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma.	Follicular lymphoma	379 European ancestry cases, 791 European ancestry controls	1,049 European ancestry cases, 3,952 European ancestry controls	6p21.32	HLA-DQB1	rs2647012-G	0.56	2E-21		1.56	[1.43-1.72]	Illumina [298168]	N
616	chr6_ssto_hap7	4096638	4096639	rs2647012	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2, HLA-DQA1	rs2647012-A	0.44	8E-6	(case-only)	1.38	[1.20-1.59]	Illumina [421318] (imputed)	N
616	chr6_ssto_hap7	4097140	4097141	rs9357152	21896673	Chen D	2011-09-10	Hum Mol Genet	Genome-wide association study of HPV seropositivity.	HPV seropositivity	1,286 European ancestry lung cancer cases, 679 European ancestry head and neck cancer cases, 811 European ancestry kidney cancer cases, 2,035 European ancestry controls	1,307 Hispanic head and neck cancer cases, 1,037 Hispanic controls	6p21.32	HLA-DQB1	rs9357152-G	0.33	1E-14				Illumina [316015]	N
616	chr6_ssto_hap7	4097140	4097141	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.20	7E-10	(CACA)			Illumina [305724]	N
616	chr6_ssto_hap7	4097140	4097141	rs9357152	19458352	Hirschfield GM	2009-05-20	N Engl J Med	Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.	Primary biliary cirrhosis	505 European ancestry cases, 1,507 European ancestry controls	526 European ancestry cases, 1,206 European ancestry controls	6p21.32	c6orf10, HLA-DQB1, BTNL2	rs2395148-?,rs3135363-?,rs2856683-?,rs9357152-?	0.01	1E-10	(AACA)			Illumina [305724]	N
616	chr6_ssto_hap7	4097600	4097601	rs10484561	20639881	Conde L	2010-07-18	Nat Genet	Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.	Follicular lymphoma	681 European ancestry cases, 750 European ancestry controls	up to 3,164 European ancestry cases, 6,208 European ancestry controls	6p21.32	HLA-DQB1	rs10484561-G	0.11	1E-29	(FL)	1.95	[1.72-2.22]	Illumina [312768]	N
616	chr6_ssto_hap7	4098476	4098477	rs9275319	23242368	Jiang DK	2012-12-16	Nat Genet	Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.	Hepatocellular carcinoma (hepatitis B virus related)	1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls	4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls	6p21.32	HLA-DQ	rs9275319-A	0.88	3E-17		1.49	[1.36-1.63]	Illumina [1672517] (imputed)	N
616	chr6_ssto_hap7	4098841	4098842	rs9275326	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	6p21.32	HLA-DQB	rs9275326-C	0.906	1E-12		1.21	[1.16-1.26]	Illumina [7893274] (imputed)	N
616	chr6_ssto_hap7	4100049	4100050	rs2647044	21946350	Soler Artigas M	2011-09-25	Nat Genet	Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Pulmonary function	48,201 European ancestry individuals	46,411 European ancestry individuals	6p21.32	HLA-DQB1	rs2647044-G	NR	6E-6	(FEV1/FVC)	0.044	[0.024-0.064] unit increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
616	chr6_ssto_hap7	4100049	4100050	rs2647044	17632545	Hakonarson H	2007-07-15	Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.	Type 1 diabetes	467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls	390 European ancestry trios, 1,333 European ancestry cases from 549 families	6p21.32	HLA-DRB1	rs2647044-A	0.13	1E-16		8.3	[6.97-9.89]	Illumina [543071]	N
616	chr6_ssto_hap7	4100241	4100242	rs2647045	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647045-?	NR	4E-10	(FL)	1.69	[NR]	Affymetrix [530583]	N
616	chr6_ssto_hap7	4100477	4100478	rs2647046	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1	rs2647046-?	NR	2E-6	(NHL)	1.25	[1.14-1.37]	Affymetrix [530583]	N
616	chr6_ssto_hap7	4101296	4101297	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.75	1E-7	(ATA positive)	1.61	[1.35-1.92]	Illumina [NR] (imputed)	N
616	chr6_ssto_hap7	4101296	4101297	rs9275390	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DQB1	rs9275390-?	0.25	3E-54	(ACA positive)	2.38	[2.13-2.67]	Illumina [NR] (imputed)	N
616	chr6_ssto_hap7	4101509	4101510	rs11752643	21971053	Takeuchi F	2011-10-05	Eur J Hum Genet	Genome-wide association study of coronary artery disease in the Japanese.	Coronary heart disease	806 Japanese ancestry cases, 1,337 Japanese ancestry controls	3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls	6p21.32	HLA, DRB-DQB	rs11752643-T	0.06	5E-7		1.26	[1.15-1.38]	Illumina [451382]	N
616	chr6_ssto_hap7	4101920	4101921	rs2647050	26030696	Cho MH	2015-06-01	Am J Respir Crit Care Med	A Genome-wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Emphysema imaging phenotypes	5,385 European ancestry chronic obstructive pulmonary disease cases, 901 African American chronic obstructive pulmonary disease cases, 3,613 European ancestry controls, 2,132 African American controls	NA	6p21.32	HLA-DQB1	rs2647050-T	NR	1E-6	(Perc15, All)	1.6	[0.66-2.54] unit increase	Illumina [7600000] (imputed)	N
616	chr6_ssto_hap7	4102109	4102110	rs9275406	23918589	Negi S	2013-12-01	Arthritis Rheum	A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians.	Rheumatoid arthritis	706 North Indian ancestry cases, 761 North Indian ancestry controls	927 North Indian ancestry cases, 1,148 North Indian ancestry controls	6p21.32	HLA-DQA2, HLA-DQB1, C6orf10, HLA-DQA1	rs9275406-T	0.17	3E-12		2.1	[1.72-2.68]	Illumina [559348]	N
616	chr6_ssto_hap7	4102413	4102414	rs2856718	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB1	rs2856718-C	0.55	7E-28		1.28	[1.22-1.33]	Illumina [3680900] (imputed)	N
616	chr6_ssto_hap7	4102413	4102414	rs2856718	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs2856718-?	NR	2E-24		1.6	[1.46-1.75]	Illumina [719265]	N
616	chr6_ssto_hap7	4102413	4102414	rs2856718	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DQB1	rs2856718-A	0.48	4E-37		1.56	[1.45-1.67]	Illumina [423627]	N
616	chr6_ssto_hap7	4102466	4102467	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.77	5E-10	(East Asian)	1.38	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_ssto_hap7	4102466	4102467	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	5E-8	(EA)	1.21	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_ssto_hap7	4102466	4102467	rs2856717	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs2856717-G	0.62	1E-15		1.27	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_ssto_hap7	4103261	4103262	rs13192471	20453841	Kochi Y	2010-05-09	Nat Genet	A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.	Rheumatoid arthritis	2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls	4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls	6p21.32	HLA-DRB1	rs13192471-G	0.22	2E-58		1.97	[1.82-2.14]	Illumina [393217]	N
616	chr6_ssto_hap7	4103406	4103407	rs1794275	22197929	Yu XQ	2011-12-25	Nat Genet	A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.	IgA nephropathy	1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls	2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls	6p21.32	HLA-DQA/B	rs1794275-A	0.15	3E-13		1.3	[1.21-1.39]	Illumina [444882]	N
616	chr6_ssto_hap7	4106887	4106888	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945894807901907	8E-6	(IGP1)	0.3014	[0.17-0.43] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_ssto_hap7	4106887	4106888	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945736455079007	1E-6	(IGP19)	0.3272	[0.2-0.46] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_ssto_hap7	4106887	4106888	rs1794265	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs1794265-C	0.945425811930783	3E-7	(IGP41)	0.3448	[0.21-0.48] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_ssto_hap7	4107259	4107260	rs9275524	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	intergenic	rs9275524-T		2E-7	(Modelling analysis)	1.07	[1.04-1.09]	NR [1252901] (imputed)	N
616	chr6_ssto_hap7	4107620	4107621	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	7E-14	(ACPA+ cases vs. all controls)	3.015	[NR]	Affymetrix [3441843] (imputed)	N
616	chr6_ssto_hap7	4107620	4107621	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	3E-12	(all cases vs. all controls)	2.608	[NR]	Affymetrix [3441843] (imputed)	N
616	chr6_ssto_hap7	4107620	4107621	rs12525220	24782177	Jiang L	2014-05-01	Arthritis Rheumatol	Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.	Rheumatoid arthritis	433 Han Chinese ancestry ACPA positive cases, 519 Han Chinese ancestry ACPA negative cases, 943 Han Chinese ancestry controls	1,032 Han Chinese ancestry ACPA positive cases, 1,100 Han Chinese ancestry ACPA negative cases, 2,553 Han Chinese ancestry controls	6p21.32	HLA-DQA2, MHC, HLA-DQB1	rs12525220-A	0.057	2E-13	(ACPA- cases vs. all controls)	2.869	[NR]	Affymetrix [3441843] (imputed)	N
616	chr6_ssto_hap7	4109550	4109551	rs9275563	23472185	Mero IL	2013-03-05	PLoS One	Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.	Multiple sclerosis (OCB status)	1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275563-?	NR	6E-11	(OCB positive vs. controls)	1.75	[1.47-2.04]	Illumina [495970]	N
616	chr6_ssto_hap7	4110235	4110236	rs4273729	23420232	Duggal P	2013-02-19	Ann Intern Med	Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.	Chronic hepatitis C infection	1,482 chronic HCV cases, 919 spontaneously cleared HCV cases	461 chronic HCV cases, 284 spontaneously cleared HCV cases	6p21.32	HLA	rs4273729	NR	5E-17		1.59		Illumina [792721] (imputed)	N
616	chr6_ssto_hap7	4110637	4110638	rs9275572	24871463	Armstrong DL	2014-05-29	Genes Immun	GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.	Systemic lupus erythematosus	725 European ancestry cases, 2,438 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-A	0.4	5E-16		1.74	[1.64-1.85]	Illumina [NR]	N
616	chr6_ssto_hap7	4110637	4110638	rs9275572	24376798	Miki D	2013-12-20	PLoS One	HLA-DQB1*03 confers susceptibility to chronic hepatitis C in Japanese: a genome-wide association study.	Chronic hepatitis C infection	481 Japanese ancestry cases, 2,963 Japanese ancestry controls	5,737 Japanese ancestry cases, 26,931 Japanese ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1	rs9275572-T	0.359	4E-16		1.27	[1.19-1.33]	Illumina [458207]	N
616	chr6_ssto_hap7	4110637	4110638	rs9275572	21499248	Kumar V	2011-04-17	Nat Genet	Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.	Hepatocellular carcinoma	721 Japanese ancestry cases, 2,890 Japanese ancestry controls	673 Japanese ancestry cases, 2,596 Japanese ancestry controls	6p21.32	HLA-DQ, HLA-DR	rs9275572-A	0.36	6E-9		1.3	[1.19-1.42]	Illumina [432703]	N
616	chr6_ssto_hap7	4110637	4110638	rs9275572	20596022	Petukhova L	2010-07-01	Nature	Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.	Alopecia areata	Up to 1,054 European ancestry cases, 3,278 European ancestry controls	NA	6p21.32	HLA-DQA2	rs9275572-G	0.59	1E-35		2.21	[1.98-2.47]	Illumina [463301]	N
616	chr6_ssto_hap7	4112220	4112221	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Pack-years)	1.0E-4	[-0.00014-0.00025] unit decrease	NR [~ 2500000] (imputed)	N
616	chr6_ssto_hap7	4112220	4112221	rs7764819	23284291	Hancock DB	2012-12-20	PLoS Genet	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.	Pulmonary function (interaction)	50,047 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB1	rs7764819-T	0.89	4E-9	(FEV1/FVC, Ever-smoking)	0.001	[-0.04016-0.04216] unit decrease	NR [~ 2500000] (imputed)	N
616	chr6_ssto_hap7	4112572	4112573	rs7765379	25383971	Dunstan SJ	2014-11-10	Nat Genet	Variation at HLA-DRB1 is associated with resistance to enteric fever.	Enteric fever	432 Vietnamese ancestry cases, 2,011 Vietnamese ancestry controls	151 Vietnamese ancestry cases,  668 Vietnamese ancestry controls, 595 Nepalese ancestry cases, 386 Nepalese ancestry controls	6p21.32	HLA-DRB1, HLA-DQB1	rs7765379-A	0.945	2E-13		4.55	[2.94-6.67]	Illumina [709725]	N
616	chr6_ssto_hap7	4112572	4112573	rs7765379	23266558	Yamazaki K	2012-12-21	Gastroenterology	A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.	Crohn's disease	372 Japanese ancestry cases,3,389 Japanese ancestry controls	Up to 1,151 Japanese ancestry cases, up to 15,800 Japanese ancestry controls	6p21.32	HLA-DQA2, HLA-DOB, HLA-DQB1, PSMB9, HLA-DRB1, HLA-DQA1	rs7765379-G	NR	9E-59		1.93	[1.78-2.09]	Illumina [4929034] (imputed)	N
616	chr6_ssto_hap7	4112572	4112573	rs7765379	21452313	Freudenberg J	2011-04-01	Arthritis Rheum	Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.	Rheumatoid arthritis	801 Korean ancestry cases, 757 Korean ancestry controls	718 Korean ancestry cases, 719 Korean ancestry controls	6p21.32	HLA-DRB1	rs7765379-?		5E-23		2.51	[NR]	Illumina [441398]	N
616	chr6_ssto_hap7	4112921	4112922	rs2858331	23146381	Levin AM	2012-11-10	J Allergy Clin Immunol	A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.	IgE levels	2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals	2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals	6p21.32	HLA-DQA2	rs2858331-G	NR	6E-6				Affymetrix, Illumina [NR] (imputed)	N
616	chr6_ssto_hap7	4112921	4112922	rs2858331	22075330	Granada M	2011-11-08	J Allergy Clin Immunol	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	IgE levels	6,819 European ancestry individuals	7,809 European ancestry indivduals	6p21.32	HLA-DQA2	rs2858331-G	NR	1E-8		0.04	[NR] unit decrease	Affymetrix [2540223] (imputed)	N
616	chr6_ssto_hap7	4112999	4113000	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.763	6E-6		0.016	[0.0089-0.0227] kg/m2 increase	Affymetrix, Illumina [2550021]	N
616	chr6_ssto_hap7	4112999	4113000	rs9275595	25673413	Locke AE	2015-02-12	Nature	Genetic studies of body mass index yield new insights for obesity biology.	Body mass index	up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals	up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychelles male individuals, 287 Seychelles female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals	6p21.32	HLA-DQA2	rs9275595-T	0.76	9E-6	(EA)	0.016	[0.009-0.0232] kg/m2 increase	Affymetrix, Illumina [2550021]	N
616	chr6_ssto_hap7	4113275	4113276	rs9275596	25710614	Hong X	2015-02-24	Nat Commun	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Peanut allergy	316 European ancestry child cases, 144 European ancestry non-allergic non-sensitized normal child controls, 589 European ancestry uncertain phenotype child controls, 1,148 European ancestry uncertain phenotype adult controls	62 European ancestry child cases, 69 European ancestry child controls, 24 child cases, 58 child controls	6p21.32	HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DQA2	rs9275596-C	0.35	6E-11	(EA)	1.7	[1.40-2.10]	Illumina [6459842] (imputed)	N
616	chr6_ssto_hap7	4113275	4113276	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.8	1E-19	(East Asian)	1.69	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_ssto_hap7	4113275	4113276	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	3E-31		1.44	[NR]	Illumina [> 1000000] (imputed)	N
616	chr6_ssto_hap7	4113275	4113276	rs9275596	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DQB1, HLA-DQA1, HLA-DRB1	rs9275596-T	0.65	2E-15	(EA)	1.35		Illumina [> 1000000] (imputed)	N
616	chr6_ssto_hap7	4113275	4113276	rs9275596	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DQB1, HLA-DRB1, HLA-DQA1	rs9275596-?	0.73 (EA)	2E-26		1.59	[NR]	Illumina [498322]	N
616	chr6_ssto_hap7	4113313	4113314	rs6935723	25217962	Heap GA	2014-09-14	Nat Genet	HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.	Response to thiopurine immunosuppressants in inflammatory bowel disease (pancreatitis) (azathioprine and mercaptopurine)	172 European ancestry cases, 2,035 European ancestry controls	78 European ancestry cases, 472 controls	6p21.32	HLA region	rs6935723-C	0.27	1E-21		2.46	[2.04-2.98]	Affymetrix, Illumina [2819700] (imputed)	N
616	chr6_ssto_hap7	4113320	4113321	rs3104402	22658931	Pajewski NM	2012-05-30	Vaccine	A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.	Immune response to anthrax vaccine	726 European ancestry individuals	NA	6p21.32	HLA-DRB1, HLA-DQA1	rs3104402-A	NR	6E-6		0.165	[0.094-0.236] unit decrease	Affymetrix [736996]	N
616	chr6_ssto_hap7	4113782	4113783	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Oligoclonal band status in multiple sclerosis	2,232 European ancestry OCB positive individuals, 275 European ancestry OCB negative individuals, 439 OCB positive individuals, 80 OCB negative individuals	3,026 OCB positive individuals, 452 OCB negative individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-G,rs3135388-A,rs3957148-A	0.28	4E-15		2.23	[1.82-2.74]	NR [485522]	N
616	chr6_ssto_hap7	4113782	4113783	rs3957148	25616667	Goris A	2015-01-22	Brain	Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.	Immunoglobulin G index levels in multiple sclerosis	773 European ancestry Individuals, 165 Individuals	2,072 Individuals	6p21.32	HLA-DQA1, HLA-DRB1	rs9271640-A,rs6457617-G,rs3957148-A	0.28	8E-14				NR [485236]	N
616	chr6_ssto_hap7	4117213	4117214	rs3916765	22693455	Perry JR	2012-05-31	PLoS Genet	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.	Type 2 diabetes	2,112 lean type 2 diabetes cases, 4,123 obese type 2 diabetes cases, 54,412 controls	2,881 lean type 2 diabetes cases, 8,702 obese type 2 diabetes cases, 18,957 controls	6p21.32	HLA-DQA2	rs3916765-A	0.12	1E-6	(Lean)	1.21	[1.12-1.31]	NR [NR]	N
616	chr6_ssto_hap7	4119640	4119641	rs9275698	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DQA2	rs9275698-T	0.79	5E-12		1.18	[1.12-1.24]	Illumina [458847]	N
616	chr6_ssto_hap7	4129452	4129453	rs2859113	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs2859113-C	0.378328302013423	6E-8	(IGP59)	0.1817	[0.12-0.25] unit decrease	Illumina [~ 2500000] (imputed)	N
616	chr6_ssto_hap7	4131750	4131751	rs2858884	20711174	Hor H	2010-08-15	Nat Genet	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	Narcolepsy	562 European ancestry cases, 702 European ancestry controls	370 cases, 495 controls	6p21.32	HLA-DQA2	rs2858884-A	0.81	3E-8		1.79	[1.45-2.17]	Affymetrix [392949]	N
616	chr6_ssto_hap7	4155582	4155583	rs7756516	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
616	chr6_ssto_hap7	4156858	4156859	rs2301271	21408207	Chung SA	2011-03-03	PLoS Genet	Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.	Systemic lupus erythematosus	811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls	NA	6p21.32	HLA-DQA2	rs2301271-T	0.40	2E-12	(anti-dsDNA -)	1.47	[1.32-1.63]	Illumina [421318] (imputed)	N
616	chr6_ssto_hap7	4158468	4158469	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.346381764494382	2E-8	(IGP42)	0.1909	[0.12-0.26] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_ssto_hap7	4158468	4158469	rs1049110	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	HLA-DQA2, HLA-DQB2	rs1049110-C	0.34601888034188	4E-8	(IGP2)	0.1853	[0.12-0.25] unit increase	Illumina [~ 2500000] (imputed)	N
616	chr6_ssto_hap7	4161677	4161678	rs7453920	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-A	0.88	1E-60		2.0	[1.82-2.17]	Illumina [3680900] (imputed)	N
616	chr6_ssto_hap7	4161677	4161678	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.051	7E-15		2.31	[1.87-2.85]	Illumina [456262]	N
616	chr6_ssto_hap7	4161677	4161678	rs7453920	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
616	chr6_ssto_hap7	4161677	4161678	rs7453920	24162738	Hu Z	2013-10-27	Nat Genet	New loci associated with chronic hepatitis B virus infection in Han Chinese.	Hepatitis B	951 Han Chinese ancestry HBV carrier cases, 937 Han Chinese ancestry HBV cleared controls	4,230 Chinese ancestry HBV carrier cases, 3,051 Chinese ancestry HBV cleared controls, 2,622 Chinese ancestry controls	6p21.32	HLA-DQB2	rs7453920-G	0.87	5E-37		1.8868	[1.69-2.08]	Illumina [490610]	N
616	chr6_ssto_hap7	4161677	4161678	rs7453920	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DQ	rs7453920-?	NR	7E-26		2.0	[1.72-2.27]	Illumina [719265]	N
616	chr6_ssto_hap7	4161677	4161678	rs7453920	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2	rs7453920-?	NR	5E-6	(LYM)	1.19	[1.11-1.3]	Affymetrix [530583]	N
616	chr6_ssto_hap7	4161677	4161678	rs7453920	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HAL-DQB2	rs7453920-G	0.83	6E-28		1.81	[1.62-2.01]	Illumina [423627]	N
616	chr6_ssto_hap7	4161751	4161752	rs2051549	23053960	Lee YH	2012-10-07	Mol Biol Rep	Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.	Systemic lupus erythematosus	1,527 European ancestry cases, 3,421 European ancestry controls,	NA	6p21.32	HLA-DQA2	rs2051549-?	NR	3E-22				Illumina [737984]	N
616	chr6_ssto_hap7	4168360	4168361	rs9276606	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs9276606-T	0.15	3E-22	(Serum level of C4)	0.09	[0.070-0.110] g/L decrease	Illumina [1940245] (imputed)	N
616	chr6_ssto_hap7	4173537	4173538	rs2621416	23349640	Vijai J	2013-01-17	PLoS Genet	Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.	Lymphoma	275 Follicular non-Hodgkin's Lymphoma cases, 269 diffuse large B-cell non-Hodgkin's Lymphoma cases, 198 other non-Hodgkin's Lymphoma cases, 202 Hodgkin's Lymphoma cases, 4,044 controls	202 European ancestry Follicular non-Hodgkin's Lymphoma cases, 367 European ancestry diffuse large B-cell non-Hodgkin's Lymphoma cases, 577 European ancestry other non-Hodgkin's Lymphoma cases, 99 European ancestry Hodgkin's Lymphoma cases, 2,596 European ancestry controls	6p21.32	HLA-DQB2, TAP2	rs2621416-G	NR	2E-9	(FL)	1.57	[NR]	Affymetrix [530583]	N
617	chr6_ssto_hap7	4195188	4195189	rs2857151	22446962	Onouchi Y	2012-03-25	Nat Genet	A genome-wide association study identifies three new risk loci for Kawasaki disease.	Kawasaki disease	428 Japanese ancestry cases, 3,379 Japanese ancestry controls	754 Japanese ancestry cases, 947 Japanese ancestry controls	6p21.32	HLA-DOB, HLA-DQB2	rs2857151-G	0.76	5E-11		1.47	[1.23-1.77]	Illumina [463793]	N
617	chr6_ssto_hap7	4214018	4214019	rs7383287	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs7383287-A	NR	1E-7		1.07	[NR]	Illumina [7158791] (imputed)	N
617	chr6_ssto_hap7	4217968	4217969	rs1894407	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody positivity	1,769 European ancestry cases, 16,528 European ancestry controls	922 European ancestry cases, 8,068 European ancestry controls	6p21.32	NR	rs1894407-C		1E-7		1.17	[1.11-1.24]	Affymetrix, Illumina [up to 3437411] (imputed)	N
617	chr6_ssto_hap7	4228547	4228548	rs2228391	26151496	Chen PL	2015-07-07	Nat Commun	Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.	Thionamide-induced agranulocytosis in Graves' disease	21 East Asian ancestry cases with agranulocytosis, 662 East Asian ancestry cases without agranulocytosis	21 East Asian ancestry cases with agranulocytosis, 546 East Asian ancestry cases without agranulocytosis	6p21.32	HLA	rs2228391-C	0.108	4E-7	(trend)	3.32	[2.02-5.46] (allelic)	Affymetrix [522980]	N
617	chr6_ssto_hap7	4228650	4228651	rs241436	25811787	Huffman JE	2015-03-26	PLoS One	Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.	Urate levels in lean individuals	up to 5,529 European ancestry male individuals, up to 9,753 European ancestry female individuals	NA	6p21.32	TAP2	rs241436-G	0.49	8E-6	(men)	0.089	[0.05-0.128] kg/m2 increase	Affymetrix, Illumina [at least 188473] (imputed)	N
617	chr6_ssto_hap7	4229505	4229506	rs1015166	25936594	Tomer Y	2015-04-27	J Autoimmun	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	Type 1 diabetes and autoimmune thyroid diseases	346 European ancestry cases, 727 European ancestry controls	185 European ancestry cases, 340 European ancestry controls	6p21.32	TAP2	rs1015166-T	NR	4E-22		2.1428		Illumina [514008]	N
617	chr6_ssto_hap7	4234844	4234845	rs241428	23028341	Yang X	2012-09-13	PLoS Genet	Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.	Complement C3 and C4 levels	1,999 Han Chinese ancestry male individuals	1,496 Han Chinese ancestry male individuals	6p21.32	HLA-DQB	rs241428-G	0.08	9E-83	(Serum level of C4)	0.23	[0.21-0.25] g/L increase	Illumina [1940245] (imputed)	N
617	chr6_ssto_hap7	4240620	4240621	rs9357155	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	TAP2, TAP1, PSMB8, PSMB9	rs9357155-?	0.87 (EA)	2E-12		1.41	[NR]	Illumina [498322]	N
617	chr6_ssto_hap7	4242401	4242402	rs2071543	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	PSMB9, TAP1, TAP2, PSMB8	rs2071543-G	0.80	2E-9	(East Asian)	1.41	[NR]	Illumina [> 1000000] (imputed)	N
617	chr6_ssto_hap7	4283380	4283381	rs2187689	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	PSMB9	rs2187689-C	0.08	3E-8		0.23	[0.15-0.31] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4285421	4285422	rs10046257	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10046257-A	0.10	3E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4286441	4286442	rs6457690	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6457690-A	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4287110	4287111	rs1029296	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029296-C	0.10	9E-8		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4287211	4287212	rs1029295	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs1029295-C	0.10	5E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4287663	4287664	rs6936004	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs6936004-C	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4288146	4288147	rs10214886	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs10214886-A	0.10	2E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4290439	4290440	rs7744666	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs7744666-C	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4290475	4290476	rs11969002	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs11969002-A	0.10	6E-8		0.2	[0.13-0.27] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4291479	4291480	rs9469300	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs9469300-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
617	chr6_ssto_hap7	4293334	4293335	rs3749982	22993228	Williams FM	2012-09-19	Ann Rheum Dis	Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.	Disc degeneration (lumbar)	4,683 European ancestry individuals	NA	6p21.32	intergenic	rs3749982-A	0.10	1E-7		0.19	[0.12-0.26] unit increase	Affymetrix, Illumina [2552511] (imputed)	N
618	chr6_ssto_hap7	4344001	4344002	rs1480380	23453885	Smoller JW	2013-02-27	Lancet	Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls	NA	6p21.32	NR	rs1480380-C	0.908	6E-7	(Modelling analysis)			NR [1252901] (imputed)	N
618	chr6_ssto_hap7	4344001	4344002	rs1480380	21323541	Stanescu HC	2011-02-22	N Engl J Med	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	Idiopathic membranous nephropathy	556 European ancestry cases, 2,338 European ancestry controls	NA	6p21.32	intergenic	rs1480380-T	0.0877	4E-39		3.05	[NR]	Illumina [242824]	N
618	chr6_ssto_hap7	4345481	4345482	rs73396800	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs73396800-G	NR	4E-16		1.1904762	[NR]	Illumina [7158791] (imputed)	N
618	chr6_ssto_hap7	4346606	4346607	rs16871226	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs16871226-G	0.0244821228239845	2E-6	(IGP67)	0.5182	[0.3-0.73] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_ssto_hap7	4434057	4434058	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.87438328769575	7E-6	(IGP59)	0.2057	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_ssto_hap7	4434057	4434058	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874270331235955	2E-6	(IGP42)	0.2151	[0.13-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr6_ssto_hap7	4434057	4434058	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.874157767431399	5E-6	(IGP2)	0.2092	[0.12-0.3] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr6_ssto_hap7	4434057	4434058	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873857556055831	6E-6	(IGP16)	0.2057	[0.12-0.29] unit decrease	Illumina [~ 2500000] (imputed)	N
618	chr6_ssto_hap7	4434057	4434058	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873550828800713	6E-6	(IGP61)	0.206	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_ssto_hap7	4434057	4434058	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.873514573726542	3E-6	(IGP58)	0.2131	[0.12-0.3] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_ssto_hap7	4434057	4434058	rs3097645	23382691	Lauc G	2013-01-31	PLoS Genet	Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.	IgG glycosylation	2,247 European ancestry individuals	NA	6p21.32	NR	rs3097645-C	0.872971129118433	6E-7	(IGP65)	0.2253	[0.14-0.31] unit increase	Illumina [~ 2500000] (imputed)	N
618	chr6_ssto_hap7	4442122	4442123	rs9500927	21804548	Hirota T	2011-07-31	Nat Genet	Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.	Asthma	1,532 Japanese ancestry cases, 3,304 Japanese ancestry controls	5,639 Japanese ancestry cases, 24,608 Japanese ancestry controls	6p21.32	HLA-DOA	rs9500927-T	0.26	4E-9		1.13	[1.09-1.18]	Illumina [458847]	N
618	chr6_ssto_hap7	4453119	4453120	rs3128935	24024966	Teumer A	2013-08-14	J Clin Periodontol	Genome-wide association study of chronic periodontitis in a general German population.	Periodontitis (CDC/AAP)	up to 3,915 European ancestry individuals	NA	6p21.32	HLA-DOA	rs3128935-T	0.97	9E-6	(Age 20-60 years)	2.28	[1.59-3.28]	Affymetrix, Illumina [up to 17585496] (imputed)	N
618	chr6_ssto_hap7	4454314	4454315	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	White wine liking	381 Carlantino individuals, 744 Friuli Venezia Giulia individuals, 1,115 Val Borbera individuals	1,261 Erasmus Rucphen Family individuals, 335 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	2E-8		0.0539	[NR] unit increase	Illumina [9969492] (imputed)	N
618	chr6_ssto_hap7	4454314	4454315	rs9276975	25758996	Pirastu N	2015-03-11	Eur J Hum Genet	Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.	Red wine liking	398 Carlantino individuals, 751 Friuli Venezia Giulia individuals, 1,122 Val Borbera individuals	1,246 Erasmus Rucphen Family individuals, 353 Silk Road individuals	6p21.32	HLA-DOA	rs9276975-T	0.15	8E-6		0.0419	[NR] unit increase	Illumina [6967159] (imputed)	N
618	chr6_ssto_hap7	4455648	4455649	rs378352	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DOA	rs378352-T	0.39	1E-23		1.26	[1.20-1.31]	Illumina [3680900] (imputed)	N
618	chr6_ssto_hap7	4455728	4455729	rs399604	22139419	Gieger C	2011-11-30	Nature	New gene functions in megakaryopoiesis and platelet formation.	Platelet count	47,005 European ancestry individuals, 1,661 Val Borbera individuals	Up to 18,838 European ancestry individuals	6p21.32	HLA-DOA	rs399604-C	NR	1E-10		2.346	[1.63-3.06] 10^9/l increase	Affymetrix, Illumina [~ 2500000] (imputed)	N
619	chr6_ssto_hap7	4513525	4513526	rs3077	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPA1	rs3077-A	0.66	1E-53		1.45	[1.39-1.52]	Illumina [3680900] (imputed)	N
619	chr6_ssto_hap7	4513525	4513526	rs3077	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs3077-?	NR	5E-39		1.89	[1.69-2.08]	Illumina [719265]	N
619	chr6_ssto_hap7	4513525	4513526	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	4E-45	(Protective effects against CHB)	1.82	[1.67-1.96]	Affymetrix [597789]	N
619	chr6_ssto_hap7	4513525	4513526	rs3077	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPA1	rs3077-C	0.60	1E-9	(Clearance of HBV)	1.67	[1.43-2.0]	Affymetrix [597789]	N
619	chr6_ssto_hap7	4513525	4513526	rs3077	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPA1	rs3077-G	0.60	2E-61		1.87	[1.73-2.01]	Illumina [423627]	N
619	chr6_ssto_hap7	4523383	4523384	rs987870	21814517	Noguchi E	2011-07-21	PLoS Genet	Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.	Asthma	938 Japanese ancestry cases, 2,376 Japanese ancestry controls	1653 East Asian ancestry cases, 1453 East Asian ancestry controls	6p21.32	HLA, DPB1	rs987870-C	0.14	2E-10		1.4	[1.26-1.55]	Illumina [450326]	N
619	chr6_ssto_hap7	4523383	4523384	rs987870	21779181	Gorlova O	2011-07-14	PLoS Genet	Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.	Systemic sclerosis	2,296 European ancestry cases, 5,172 European ancestry controls	3,175 European ancestry cases, 4,210 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1	rs987870-?	0.15	2E-20	(ATA positive)	2.09	[1.78-2.45]	Illumina [NR] (imputed)	N
619	chr6_ssto_hap7	4529164	4529165	rs1042151	23180272	Park BL	2012-11-21	Hum Genet	Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.	Aspirin exacerbated respiratory disease in asthmatics	117 Korean ancestry cases, 685 Korean ancestry controls	142 Korean ancestry cases, 996 Korean ancestry controls	6p21.32	HLA-DPB1	rs1042151-G	0.083	5E-7		2.4	[1.68-3.42]	Illumina [430486]	N
619	chr6_ssto_hap7	4535364	4535365	rs9277535	25802187	Jiang DK	2015-04-28	Hepatology	Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.	Chronic hepatitis B infection	2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls	6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-A	0.58	1E-70		1.52	[1.45-1.59]	Illumina [3680900] (imputed)	N
619	chr6_ssto_hap7	4535364	4535365	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.251	5E-14		1.59	[1.41-1.79]	Illumina [456262]	N
619	chr6_ssto_hap7	4535364	4535365	rs9277535	24940741	Chang SW	2014-06-18	PLoS One	A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.	Chronic hepatitis B infection	321 Chinese ancestry cases, 304 Chinese ancestry controls	1,302 Chinese ancestry cases, 761 Chinese ancestry controls	6p21.32	HLA, HLA-DQB2, -DQA2, HLA-DPB1, HLA-DPA3	rs9276370-?,rs7756516-?,rs7453920-?,rs9277535-?,rs9366816-?	0.4305	1E-12	(TTGGT)	1.49	[1.33-1.66]	Illumina [456262]	N
619	chr6_ssto_hap7	4535364	4535365	rs9277535	23760081	Kim YJ	2013-06-10	Hum Mol Genet	A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.	Chronic hepatitis B infection	400 Korean ancestry cases, 1,000 Korean ancestry controls	971 Korean ancestry cases, 1,938 Korean ancestry controls	6p21.32	HLA-DP	rs9277535-?	NR	4E-40		1.89	[1.72-2.08]	Illumina [719265]	N
619	chr6_ssto_hap7	4535364	4535365	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-21	(Protective effects against CHB)	1.64	[1.47-1.82]	Affymetrix [597789]	N
619	chr6_ssto_hap7	4535364	4535365	rs9277535	22737229	Nishida N	2012-06-21	PLoS One	Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.	Hepatitis B (viral clearance)	181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals	Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals	6p21.32	HLA-DPB1	rs9277535-G	0.57	2E-17	(Clearance of HBV)	1.52	[1.37-1.67]	Affymetrix [597789]	N
619	chr6_ssto_hap7	4535364	4535365	rs9277535	21764829	Png E	2011-07-15	Hum Mol Genet	A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.	Hepatitis B vaccine response	1,683 Indonesian ancestry individuals	1,931 Indonesian ancestry individuals	6p21.32	HLA-DPB1	rs9277535-?	NR	3E-12		1.39	[1.23-1.59]	Illumina [455508]	N
619	chr6_ssto_hap7	4535364	4535365	rs9277535	21750111	Mbarek H	2011-07-12	Hum Mol Genet	A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.	Hepatitis B	458 Japanese ancestry cases, 2,056 Japanese ancestry controls	2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls	6p21.32	HLA-DPB1	rs9277535-G	0.57	3E-54		1.77	[1.65-1.91]	Illumina [423627]	N
619	chr6_ssto_hap7	4535364	4535365	rs9277535	19349983	Kamatani Y	2009-04-06	Nat Genet	A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.	Hepatitis B	179 Japanese ancestry cases, 934 Japanese ancestry controls	1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls	6p21.32	HLA-DPB1	rs9277535-G		6E-39		1.75	[1.61-1.92]	Illumina [499544]	N
619	chr6_ssto_hap7	4536041	4536042	rs9277554	23740775	Xie G	2013-09-01	Arthritis Rheum	Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.	Wegener's granulomatosis	459 European ancestry cases, 1,503 European ancestry controls	291 European ancestry cases, 317 European ancestry controls	6p21.32	HLA-DOA, HSD17B8, RING1, COL11A2, RXRB, HLA-DPB1*04, HLA-DPB1, HLA-DPB2	rs9277554-C	0.708	2E-50		4.17	[3.33-5.00]	Illumina [287802]	N
619	chr6_ssto_hap7	4536108	4536109	rs9277555	24586183	Medici M	2014-02-27	PLoS Genet	Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.	Thyroid peroxidase antibody levels	12,353 European ancestry individuals	8,159 European ancestry individuals	6p21.32	NR	rs9277555-G		6E-7		0.0199	[0.010-0.030] unit increase	Affymetrix, Illumina [up to 3437411] (imputed)	N
619	chr6_ssto_hap7	4540621	4540622	rs2281388	21841780	Chu X	2011-08-14	Nat Genet	A genome-wide association study identifies two new risk loci for Graves' disease.	Graves' disease	1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls	3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls	6p21.32	HLA, DPB1	rs2281388-T	0.32	2E-65		1.64	[1.55-1.74]	Illumina [486049]	N
619	chr6_ssto_hap7	4541325	4541326	rs6928954	20639394	Kang TW	2010-07-16	Hum Mol Genet	Genome-wide association of serum bilirubin levels in Korean population.	Bilirubin levels	8,841 Korean ancestry individuals	1,096 Korean ancestry individuals	6p21.32	intergenic	rs6928954-?	0.023	1E-6		0.075	[NR] bilirubin level increase	Affymetrix [1227049] (imputed)	N
619	chr6_ssto_hap7	4550396	4550397	rs3117242	22808956	Lyons PA	2012-07-19	N Engl J Med	Genetically distinct subsets within ANCA-associated vasculitis.	Antineutrophil cytoplasmic antibody-associated vasculitis	914 European ancestry cases, 5,259 European ancestry controls	1,454 European ancestry cases, 1,666 European ancestry controls	6p21.32	HLA-DP, COL11A2	rs3117242-?	NR	1E-71		3.67	[NR]	Affymetrix [NR]	N
619	chr6_ssto_hap7	4552649	4552650	rs4282438	24097066	Li Y	2013-10-06	Nat Genet	A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.	Sjogren's syndrome	542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls	1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls	6p21.32	COL11A2, HLA-DPB1, HLA-DPA1	rs4282438-G	0.3546	9E-25		1.58	[1.45-1.72]	Affymetrix [556134]	N
619	chr6_ssto_hap7	4552649	4552650	rs4282438	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	HLA-DPB2	rs4282438-?	0.56	5E-27	(Stringently Matched)	1.35	[1.27-1.41]	Affymetrix [563339]	N
619	chr6_ssto_hap7	4562785	4562786	rs733208	24722205	Kwak SH	2014-04-17	Hum Mol Genet	A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.	Thyroid peroxidase antibody positivity	377 Korean ancestry cases, 3,019 Korean ancestry anti-TPO controls	108 Korean ancestry cases, 734 Korean ancestry controls	6p21.32	HLA-DPB2	rs733208-A	0.30	4E-7		1.435	[1.30-1.57]	Affymetrix [1418709] (imputed)	N
619	chr6_ssto_hap7	4566735	4566736	rs3117035	20031603	Marroni F	2009-08-01	Circ Cardiovasc Genet	A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.	RR interval (heart rate)	2,325 European ancestry individuals	NA	6p21.32	intergenic	rs3117035-A	0.48	1E-6		0.14	[0.08-0.20] unit decrease	Illumina [~ 318327]	N
619	chr6_ssto_hap7	4566934	4566935	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs1883414-G	0.68	2E-11		1.22	[NR]	Illumina [> 1000000] (imputed)	N
619	chr6_ssto_hap7	4566934	4566935	rs1883414	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB1, HLA-DPA1, HLA-DPB2	rs1883414-G	0.68	5E-7	(EA)	1.2	[NR]	Illumina [> 1000000] (imputed)	N
619	chr6_ssto_hap7	4566934	4566935	rs1883414	21399633	Gharavi AG	2011-03-13	Nat Genet	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls	712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls	6p21.32	HLA-DPA1, HLA-DPB1, HLA-DPB2	rs1883414-?	0.67 (EA)	5E-9		1.28	[NR]	Illumina [498322]	N
619	chr6_ssto_hap7	4570123	4570124	rs3117027	23482656	Chen D	2013-03-12	J Natl Cancer Inst	Genome-wide association study of susceptibility loci for cervical cancer.	Cervical cancer	1,034 European ancestry cases, 3,948 European ancestry controls	1,140 European ancestry cases, 1,058 European ancestry controls	6p21.32	HLA-DPB2	rs3117027-?	NR	1E-7		1.25	[1.15-1.36]	Illumina [632668]	N
619	chr6_ssto_hap7	4577778	4577779	rs3129269	25305756	Kiryluk K	2014-10-12	Nat Genet	Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	IgA nephropathy	1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls	2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls	6p21.32	HLA-DPB2, HLA-DPB1, HLA-DPA1	rs3129269-C	NR	5E-7	(East Asian)	1.29	[NR]	Illumina [> 1000000] (imputed)	N
620	chr6_ssto_hap7	4624113	4624114	rs2254287	18193043	Willer CJ	2008-01-13	Nat Genet	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	LDL cholesterol	8,589 European ancestry individuals	12,981 European ancestry individuals	6p21.32	B3GALT4	rs2254287-G	0.38	5E-8		1.91	[NR] mg/dl increase	Affymetrix, Illumina [~ 2261000] (imputed)	N
620	chr6_ssto_hap7	4684433	4684434	rs9277952	23817570	Shi Y	2013-06-30	Nat Genet	A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.	Cervical cancer	Up to 1,364 Han Chinese ancestry cases, up to 3,028 Han Chinese ancestry controls	4,167 Han Chinese ancestry cases, 7,196 Han Chinese ancestry controls	6p21.32	intergenic	rs9277952-?	0.53	2E-9	(Matched)	1.18	[1.12-1.23]	Affymetrix [563339]	N
622	chr6_ssto_hap7	4875444	4875445	rs9461856	26198764	Goes FS	2015-07-21	Am J Med Genet B Neuropsychiatr Genet	Genome-wide association study of schizophrenia in Ashkenazi Jews.	Schizophrenia	592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls	NA	6p21.32	NR	rs9461856-A	NR	4E-12		1.08	[NR]	Illumina [7158791] (imputed)	N
585	chr17_ctg5_hap1	18140	18141	rs4792814	21833088	Sawcer S	2011-08-11	Nature	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Multiple sclerosis	9,772 European ancestry cases, 16,849 European ancestry controls	4,218 European ancestry cases, 7,296 European ancestry controls	17q21.31	MAP3K14	rs4792814-G	NR	3E-6		1.08	[1.06-1.09]	Illumina [465434]	N
585	chr17_ctg5_hap1	128502	128503	rs11012	20070850	Edwards TL	2010-01-13	Ann Hum Genet	Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.	Parkinson's disease	1,752 European ancestry cases, 1,745 European ancestry controls	NA	17q21.31	MAPT, PLEKHM1, IMP5	rs11012-T	NR	6E-8		1.43	[1.27-1.61]	Illumina [495715] (imputed)	N
586	chr17_ctg5_hap1	131463	131464	rs17631303	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Ovarian cancer in BRCA1 mutation carriers	683 European ancestry cases, 2,044 European ancestry controls	1,706 European ancestry cases, 10,258 European ancestry controls	17q21.31	intergenic	rs17631303-G	0.19	1E-8		1.27	[1.17-1.38]	Illumina [2568349] (imputed)	N
586	chr17_ctg5_hap1	131463	131464	rs17631303	23544013	Couch FJ	2013-03-27	PLoS Genet	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.	Ovarian cancer in BRCA1 mutation carriers	683 European ancestry cases, 2,044 European ancestry controls	1,706 European ancestry cases, 10,258 European ancestry controls	17q21.31	NR	rs17631303-?	NR	1E-8				Illumina [2568349] (imputed)	N
588	chr17_ctg5_hap1	512751	512752	rs2732703	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	17q21.31	KANSL1, LRRC27A, MAPT	rs2732703-T	0.87	6E-9		1.369863	[1.23-1.54]	NR [NR]	N
589	chr17_ctg5_hap1	531223	531224	rs2458179	22952603	Hart AB	2012-08-28	PLoS One	Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).	Response to amphetamines	1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals	NA	17q21.31	intergenic	rs2458179-?	NR	7E-6	(SF9)			Affymetrix [5476100] (imputed)	N
590	chr17_ctg5_hap1	678577	678578	rs17577094	24842889	Vacic V	2014-05-19	Hum Mol Genet	Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.	Parkinson's disease	1,130 Ashkenazi Jewish cases, 2,611 Ashkenazi Jewish controls	306 Ashkenazi Jewish cases, 2,583 Ashkenazi Jewish controls	17q21.31	MAPT	rs17577094-?	0.74	8E-9		1.56	[1.39-1.79]	Affymetrix, Illumina [1069161] (imputed)	N
590	chr17_ctg5_hap1	678812	678813	rs9303525	22504418	Ikram MA	2012-04-15	Nat Genet	Common variants at 6q22 and 17q21 are associated with intracranial volume.	Intracranial volume	8,175 European ancestry individuals	1,752 European ancestry individuals	17q21.31	MAPT, GRN, CRHR1, STH	rs9303525-G	0.22	8E-15		14.9	[NR] ml decrease	Affymetrix, Illumina [2229753] (imputed)	N
591	chr17_ctg5_hap1	786678	786679	rs8070723	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	17q21.31	MAPT	rs8070723-?	0.23	2E-118		5.11	[4.43-5.91]	Illumina [531451]	N
591	chr17_ctg5_hap1	786678	786679	rs8070723	21044948	Spencer CC	2010-11-02	Hum Mol Genet	Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.	Parkinson's disease	1,705 European ancestry cases, 5,175 European ancestry controls	1,039 European ancestry cases, 1,984 European ancestry controls	17q21.31	MAPT	rs8070723-?	0.76	7E-12		1.3	[1.19-1.43]	Illumina [532616]	N
591	chr17_ctg5_hap1	811040	811041	rs1981997	23583980	Fingerlin TE	2013-04-14	Nat Genet	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.	Interstitial lung disease	1,161 European ancestry cases, 4,683 European ancestry controls	876 European ancestry cases, 1,890 European ancestry controls	17q21.31	MAPT	rs1981997-G	0.77	9E-14		1.41	[1.28-1.56]	Illumina [439828]	N
591	chr17_ctg5_hap1	847977	847978	rs242557	21685912	Hoglinger GU	2011-06-19	Nat Genet	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Progressive supranuclear palsy	1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls	1,051 European ancestry cases, 3,560 European ancestry controls	17q21.31	MAPT	rs242557-?	0.35	9E-18	(controlling for rs8070723)	1.43	[1.32-1.54]	Illumina [531451]	N
591	chr17_ctg5_hap1	872983	872984	rs17649553	25064009	Nalls MA	2014-07-27	Nat Genet	Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.	Parkinson's disease	13,708 European ancestry cases, 95,282 European ancestry controls	5,353 European ancestry cases, 5,551 European ancestry controls	17q21.31	MAPT	rs17649553-C	0.774	2E-48		1.3	[1.27-1.34]	Illumina [7893274] (imputed)	N
591	chr17_ctg5_hap1	889759	889760	rs1864325	22504420	Estrada K	2012-04-15	Nat Genet	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.	Bone mineral density	Up to 32,961 European and East Asian ancestry individuals	Up to 50,933 European and East Asian ancestry individuals	17q21.31	MAPT	rs1864325-T	0.22	5E-11	(LSBMD)	0.04	[NR] unit decrease	Affymetrix, Illumina [~ 2500000] (imputed)	N
592	chr17_ctg5_hap1	942242	942243	rs17690703	24429156	Noth I	2013-04-17	Lancet Respir Med	Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.	Idiopathic pulmonary fibrosis	542 European ancestry cases, 542 European ancestry controls	868 European ancestry cases, 1,389 European ancestry controls	17q21.31	SPPL2C, KANSL1, MAPT, CRHR1, STH	rs17690703-C	0.76	6E-9		1.43	[1.27-1.61]	Affymetrix [10601812] (imputed)	N
592	chr17_ctg5_hap1	943320	943321	rs12373124	22693459	Li R	2012-05-31	PLoS Genet	Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.	Male-pattern baldness	3,891 European ancestry cases, 8,915 European ancestry controls	NA	17q21.31	intergenic	rs12373124-T	0.438	5E-10		1.33	[1.21-1.45]	Affymetrix, Illumina [2391230] (imputed)	N
592	chr17_ctg5_hap1	943856	943857	rs12185268	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 1,986 controls	NA	17q21.31	MAPT	rs12185268-?	NR	1E-9		3.46	[2.27-5.28]	Illumina [533898] (imputed)	N
592	chr17_ctg5_hap1	943856	943857	rs12185268	21738487	Do CB	2011-06-23	PLoS Genet	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Parkinson's disease	3,426 European ancestry cases, 29,624 European ancestry controls	NA	17q21.31	MAPT	rs12185268-A	0.79	3E-14		1.3	[1.22-1.39]	Illumina [522782]	N
592	chr17_ctg5_hap1	960718	960719	rs17689882	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	17q21.31	CRHR1	rs17689882-A	0.22	8E-9	(Intracranial volume, EA)	13460.47	[8891.61-18029.33] mm3 decrease	Affymetrix, Illumina [NR] (imputed)	N
592	chr17_ctg5_hap1	973820	973821	rs8072451	25607358	Hibar DP	2015-01-21	Nature	Common genetic variants influence human subcortical brain structures.	Subcortical brain region volumes	up to 13,171 European ancestry individuals	up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals	17q21.31	MAPT, GRN, CRHR1, STH	rs8072451-?	NR	1E-8	(Intracranial volume, EA)	14489.99	[9539.28-19440.70] unit decrease	Affymetrix, Illumina [NR] (imputed)	N
592	chr17_ctg5_hap1	1043108	1043109	rs7207400	25778476	Jun G	2015-03-17	Mol Psychiatry	A novel Alzheimer disease locus located near the gene encoding tau protein.	Alzheimer's disease in APOE e4- carriers	7,184 cases, 26,968 controls	718 European ancestry cases, 1,699 European ancestry controls	17q21.31	CRHR1	rs7207400-T	0.75	5E-6		1.1363636	[1.08-1.2]	NR [NR]	N
593	chr17_ctg5_hap1	1062227	1062228	rs9303521	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (spine)	19,195 European ancestry individuals	NA	17q21.31	CRHR1	rs9303521-T	0.46	1E-8		0.07	[0.05-0.09] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
593	chr17_ctg5_hap1	1062227	1062228	rs9303521	19801982	Rivadeneira F	2009-10-04	Nat Genet	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.	Bone mineral density (hip)	19,195 European ancestry individuals	NA	17q21.31	CRHR1	rs9303521-T	0.46	4E-6		0.06	[0.04-0.07] s.d. decrease	Affymetrix, Illumina [2543686] (imputed)	N
593	chr17_ctg5_hap1	1072009	1072010	rs11655470	22504419	Taal HR	2012-04-15	Nat Genet	Common variants at 12q15 and 12q24 are associated with infant head circumference.	Head circumference (infant)	10,768 European ancestry infants	8,321 European ancestry infants	17q21.31	MAPT, CRHR1	rs11655470-T	0.49	4E-6		0.048	[0.028-0.068] SD increase	Affymetrix, Illumina [~ 2400000] (imputed)	N
593	chr17_ctg5_hap1	1148169	1148170	rs393152	26077951	Kouri N	2015-06-16	Nat Commun	Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.	Corticobasal degeneration	152 cases, 3,111 controls	67 cases, 457 controls	17q21.31	MAPT	rs393152-?	NR	1E-12		3.7	[NR]	Illumina [533898] (imputed)	N
593	chr17_ctg5_hap1	1148169	1148170	rs393152	19915575	Simon-Sanchez J	2009-11-15	Nat Genet	Genome-wide association study reveals genetic risk underlying Parkinson's disease.	Parkinson's disease	1,713 European ancestry cases, 3,978 European ancestry controls	3,361 European ancestry cases, 4,573 European ancestry controls	17q21.31	MAPT, C17orf69, KIAA1267, LOC644246	rs393152-A	0.82	2E-16		1.3	[NR]	Illumina [463185]	N
593	chr17_ctg5_hap1	1152430	1152431	rs2942168	21292315	Nalls MA	2011-02-01	Lancet	Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.	Parkinson's disease	5,333 European ancestry cases, 12,019 European ancestry controls	7,053 cases, 9,007 controls	17q21.31	MAPT	rs2942168-G	0.78	1E-28		1.27	[1.23-1.31]	Illumina [7689524] (imputed)	N
